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Showing all Globin gene causative mutations (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
3675 | wild type | N/A | N/A | , | ||||
3871 | Unknown | N/A | N/A | , | ||||
3998 | --259 | N/A | N/A | , | ||||
3396 | IVS I-113 C>A | Hb Beach Haven | HBA2:c.96-5C>A | α3.7 hybrid | Causative | Haemolytic anaemia | NG_000006.1 | |
3407 | (αα)JS | N/A | NC_000016.10:g.46628_126325del | HS40, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3588 | --OY | N/A | NC_000016.10:g.0_318541del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
3622 | --71.8 (71.8 Kb deletion) | N/A | NC_000016.10:g.138971_210817del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
3631 | -α3.7;CD 104 TGC>TAC | Hb Sallanches | N/A | α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | |
3663 | HS-40 deletion | N/A | NC_000016.10:g.(47217_113592)_(113687_143639)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
3711 | (αα)YD | N/A | NC_000016.10:g.94096_147948del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
3821 | --196 | N/A | NC_000016.10:g.35880_(232158_243266)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
3822 | --227 | N/A | NC_000016.10:g.35880_(262740_268502)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
3886 | (αα)107kb deletion | N/A | NC_000016.10:g.44082_151511del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
3889 | (αα)Aurora Borealis | N/A | NC_000016.10:g.(48303_50379)_ (165612_167685)del | HS40, ζ, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
3946 | 16 kb HS-40 deletion | N/A | NC_000016.10:g.100600_116678del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
3957 | 68.9 kb HS-40 deletion | N/A | NC_000016.10:g.52778_121630del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
4015 | --259 | N/A | NC_000016.10:g.27301_286500del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
4058 | --FG | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
4059 | --Sciacca | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
4060 | --AG | N/A | NC_000016.10:g.10001_(284537_284542)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
4061 | --Puglia | N/A | NC_000016.10:g.(54016_55432)_(220780_223388)del | HS40, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
4062 | 285 kb deletion | N/A | N/A | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | |
4073 | (αα)FJ (--FJ) | N/A | NC_000016.10:g.39268_130758del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
4082 | --LAMPHUN (27 kb deletion with 9 bp insertion (Lamphun deletion)) | N/A | N/A | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
4090 | --Mococa (17 kb deletion) | N/A | NC_000016.10:g.(162059_162078)_(179126_179145)del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
4095 | --Guigang (145 kb deletion) | N/A | NC_000016.10:g.127815_273190del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
348 | -α3.7;CD 14 TGG>CGG | Hb Evanston | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
400 | -α3.7;CD 109 CTG>CGG | Hb Suan Dok | N/A | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
410 | -α3.7;CD 125 CTG>CAG [Leu>Gln] | N/A | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2244 | (αα)JM | N/A | NC_000016.10:48642_132584del | HS40, ζ, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2248 | (αα)Sco | N/A | NC_000016.10:g.(93618_93635)_(141631_141648)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2252 | --BR | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2268 | --BA | N/A | NC_000016.10:g.0_772369del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2555 | α12 (HBA2 gene conversion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
2562 | (αα)HS40del (deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)]) | N/A | NC_000016.10:g.(?_53625)_(113702_143677)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
3071 | --235 (--175) | N/A | NC_000016.10:g.10001_185264del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3275 | (αα)ALT | N/A | NC_000016.10:g.113194_116554delins39 | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
3292 | 15 kb deletion | N/A | NC_000016.10:g.172736_187935del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3296 | --GB | N/A | NC_000016.9:g.(161901_161910)_(178672_178681)del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2233 | -ζ | N/A | N/A | ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2234 | -α16.6 | N/A | NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2235 | α-αΔ970 (970 bp deletion) | N/A | NG_000006.1:g.36599_37568delinsTAG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2236 | --DUTCH I | N/A | NG_000006.1:g.7622_41156del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2237 | --AW | N/A | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2238 | --BGS | N/A | NC_000016.10:g.47749_179374del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2239 | --CAMPANIA | N/A | NC_000016.10:g.(8635_8924)_(39835_40133)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2240 | --FIL-2 (27.9 deletion) | N/A | NC_000016.10:g.156188_184103del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2241 | --ED | N/A | NC_000016.10:g.(110582_113386)_(187266_188773)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2242 | --GP | N/A | NC_000016.10:g.(43803_47123)_(187266_188649)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2243 | (αα)AS | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2245 | (αα)MM | N/A | NC_000016.10:g.(?_53322)_(141396_143702)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2246 | (αα)L | N/A | NC_000016.10:g.(?_55799)_(152345_162796)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2247 | (αα)SN | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2249 | (αα)ZW | N/A | NC_000016.10:g. 90778_106773del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2250 | (αα)RSR | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2251 | (αα)MCu | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2253 | --ZW | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2254 | --JY | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2255 | --LC | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2256 | --VR | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2257 | --JT | N/A | NC_000016.10:g.(44035_44092)_(312033_312090)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2258 | --AB | N/A | NC_000016.10:g.(?_55799)_(360870_410354)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2259 | --GZ | N/A | NC_000016.10:g.(?_53322)_(879639_910965)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2260 | Dutch II | N/A | NC_000016.10:g.(?_55799)_(284538_298092)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2261 | --MK | N/A | NC_000016.10:g.(113696_130566)_(298093_ 331093)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2262 | --80 | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2264 | --Brazil | N/A | NC_000016.10:g.(?_55799)_(986613_1063737)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2265 | --PV | N/A | NC_000016.10:g.(?_55799)_(1625950_1740473)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2266 | --HN | N/A | NC_000016.10:g.(?_55799)_(1923864_ 1939057)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2267 | --FT | N/A | NC_000016.10:g.(?_55799)_(1857769_1890275)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2269 | --TN | N/A | NC_000016.10:g.0_976709del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2270 | --BO | N/A | NC_000016.10:g.0_1896761del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2271 | --IM | N/A | NC_000016.10:g.0_2021644del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2272 | --LIN | N/A | NC_000016.10:g.0_2023655del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2273 | --GS | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3021 | --JAL | N/A | NC_000016.10:g.(149437_149482)_(179595_179654)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3022 | --LOD | N/A | NC_000016.10:g.(45349_45393)_(262286_262330)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3067 | --MEX1 | N/A | NG_000006.1:g.3(33114_33812)_(40649_42021)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3068 | --MEX2 | N/A | NC_000016.10:g.(113775_130542)_(208161_249560)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3074 | (αα)JX | N/A | NC_000016.10:g.113161_113902del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3142 | -α6.3 | N/A | NG_000006.1:g.31022_37366del6344 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3215 | --Braz | N/A | NC_000016.10:g.(167305_169853)_(239884_271794)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3244 | −KOZANI | N/A | NC_000016.10:g.(113686_143638)_(407521_?)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3255 | --MEX3 | N/A | NC_000016.10:g.151479_182582del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3258 | --NFLD | N/A | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3273 | --VS | N/A | NC_000016.10:g.(100364_105222)_(376261_986851)del | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3274 | --CBR | N/A | NC_000016.10:g.(?_53322)_(177893_179815)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3283 | --JS | N/A | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3284 | --PG | N/A | NC_000016.10:g.93628_542759del450131 | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3293 | 97 kb deletion | N/A | NC_000016.10:g.56407_153678del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3295 | 225 kb deletion | N/A | NC_000016.10:g.56407_281805del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3327 | --GX | N/A | NC_000016.10:g.(41492_43628)_(247888_254167)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3440 | -αMAL3.5 | N/A | NG_000006.1:g.32745_36301del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3514 | 170 kb deletion | N/A | N/A | α2, α1, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
306 | -α7.9 | N/A | NG_000006.1:g.28322_36260del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
307 | -α18 (18 kb deletion) | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
316 | -(α)5.2 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
322 | --CI (28+ kb deletion.) | N/A | NC_000016.10:g.(158380_161516)_ (186053_?) | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
324 | --115 | N/A | NC_000016.10:g.(13158_13584)_(39907_41256)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
326 | --YEM | N/A | NG_000006.1:g.(16201_17547)_(41420_42633)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
329 | --KOL | N/A | NC_000016.10:g.(151719_151746)_(185067_185093)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
330 | --11.1 (11.1 kb deletion) | N/A | NG_000006.1:g.(31695_31724)_(42846_42867)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
331 | --OH | N/A | NC_000016.10:g.(149158_152418)_(249560_284571)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
332 | (αα)RA | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
333 | (αα)TI | N/A | NC_000016.10:g.10023_122854del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
334 | (αα)IJ | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
335 | (αα)CMO | N/A | NC_000016.10:g.10018_157684del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
336 | (αα)TAT | N/A | NC_000016.10:g.10020_152823del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
337 | (αα)MB | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
338 | (αα)IC | N/A | NC_000016.10:g.10018_131194delinsAC | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
339 | (αα)IdF | N/A | NC_000016.10:g.10020_154449del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
327 | --MC | N/A | NC_000016.10:g.139301_182501del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 164 |
3607 | 63 Kb deletion | N/A | NC_000016.10:g.(143655_149367)_(181204_206338)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 4518 |
3595 | --CR | Hb Chiang Rai | NC_000016.10:g.144215_188843del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 5078 |
3214 | 44.6 kb deletion | N/A | NC_000016.10:g.144215_188841del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 5078 |
2554 | -α28.5 | N/A | NG_000006.1g.7065_35627del28563 | ζ, α2 | Causative | α-thalassaemia | NG_000006.1 | 7065 |
4057 | --PA | N/A | NC_000016.10:g.(146281_146304)_(180074_180097)del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 7144 |
3408 | --60.2 | N/A | NC_000016.10:g.147589_207883del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8452 |
323 | --CAL | N/A | NG_000006.1:g.8464_40664del32201 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8464 |
313 | --MED II | N/A | NG_000006.1:g.(7740_9712)_(39907_41156)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8726 |
3020 | --DANE | N/A | NG_000006.1: g.8800_40007del31208 | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 8800 |
2232 | -α27.6 | N/A | NG_000006.1:g.9079_36718del27640 | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 9079 |
4110 | 146 kb deletion | N/A | NC_000016.10:g.148636_295089del | ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 9499 |
3963 | 32.8 kb deletion | N/A | NC_000016.10:g.149860_182697del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 10723 |
310 | --THAI | N/A | NC_000016.10:g.149863_183312del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 10726 |
325 | --RT | N/A | NC_000016.10:g.151401_188301del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12264 |
311 | --FIL | N/A | NC_000016.10:g.151641_182316del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12504 |
321 | --CL | N/A | NC_000016.10:g.152451_263801del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 13314 |
2475 | 21.9 kb deletion with 29 bp insertion (Qinzhou type deletion) | N/A | NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT] | ζ, α2 | Causative | α-thalassaemia | NG_000006.1 | 14373 |
4019 | 27.2 kb deletion (--27.2) | N/A | NC_00016.10:g.154539_181778delinsTAACA | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 15402 |
320 | --BRIT | N/A | NC_000016.10:g.155501_184801del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 16364 |
314 | -(α)20.5 | N/A | NG_000006.1:g.(18148_18200)_(37868_37901)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18200 |
319 | --MA | N/A | NG_000006.1:g.18964_39864del20901 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18964 |
315 | --SA | N/A | NC_000016.10:g.159052_182788delins139752_139596 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 19464 |
3947 | 27.3 kb deletion | N/A | NC_000016.10:g.158664_185974del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 19527 |
3294 | 22 kb deletion | N/A | NG_000006.1:g.20350_42078del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 20350 |
312 | --MED I | N/A | NG_000006.1:g.(23641_23662)_(41183_41203)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 23662 |
3945 | 15.8 kb deletion (NG_000006.1:g.24749_40631del) | N/A | NC_000016.10:g.163886_179768del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 24749 |
309 | --SEA | N/A | NC_000016.10:g.165401_184701del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 26264 |
305 | -α5.3 | N/A | NG_000006.1:g.28684_33930del5246 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 28684 |
328 | --CANT | N/A | NC_000016.10:g.(168531_169756)_(182770_183028)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29394 |
4020 | 14.9 kb deletion | N/A | NC_00016.10:g.168803_183737del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 29666 |
3603 | -α6.9 | N/A | NG_000006.1:g.29785_36746del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29785 |
318 | --SPAN | N/A | NC_000016.10:g.(169756_170100)_(179044_181595)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30619 |
301 | -α4.2 | N/A | NC_000016.10:g.169818_174075del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30681 |
3966 | 5.9 kb deletion | N/A | NG_000006.1:g.30779_36726del | α2 | Causative | α-thalassaemia | NG_000006.1 | 30779 |
3018 | --NOR | N/A | NC_000016.10:g.170694_184101del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 31577 |
4115 | 45.2 kb deletion | N/A | NC_000016.10:g.171252_216415del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 32115 |
3360 | 9.7 kb deletion | N/A | NG_000006.1:g.32709_42418del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32709 |
317 | --GEO | N/A | NG_000006.1:g.32864_42264del9401 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32864 |
3268 | 811 bp deletion | N/A | NG_000006.1:g.32945_33755 | α2 | Causative | α-thalassaemia | NG_000006.1 | 32945 |
3994 | 10.3 kb deletion | N/A | NC_000016.10:g.172342_182690del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33205 |
4083 | -(α)4.9 (4.9 Kb deletion) | N/A | NC_000016.10:g.172367_177259delinsG | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 33230 |
2988 | -54 G>A | N/A | HBA2:c.-91G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33685 |
2967 | -22 C>T | N/A | HBA2:c.-59C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33717 |
3725 | -4 G>C | N/A | HBA2:c.-41C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33735 |
3726 | Cap +11 T>A | N/A | HBA2:c.-27T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33749 |
3727 | Cap +23 C>G | N/A | HBA2:c.-15C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33761 |
3728 | Cap +30 A>C | N/A | HBA2:c.-8A>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33768 |
3051 | Init CD ACCATG>-CCATG | N/A | HBA2:c.-3delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 33773 |
346 | -α3.7;Init CD ACCATG>--CATG | N/A | NG_000006.1:g.[33773_33774del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33773, 34247 |
344 | Init CD ATG>-TG | N/A | HBA2:c.1delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776 |
345 | -α3.7;Init CD ATG>GTG | N/A | NG_000006.1:g.[33776A>G;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776, 34247 |
3604 | Init CD ATG>GTG [Met>Pro] | N/A | HBA2:c.1A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
3050 | Init CD ATG>TTG [Met>Leu] | N/A | HBA2:c.1A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
2460 | Init CD ATG>AGG [Met>Arg] | N/A | HBA2:c.2T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
342 | Init CD ATG>ACG [Met>Thr] | N/A | HBA2:c.2T>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
343 | Init CD ATG>A-G | N/A | HBA2:c.2delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
3754 | Init CD ATG>AAG [Met>Lys] | N/A | HBA2:c.2T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33777 |
3564 | Init CD ATG>ATC [Met>Ile] | N/A | HBA2:c.3G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33778 |
3027 | Init CD ATG>ATT [Met>Ile] | Hb Valdecilla | HBA2:c.3G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33778 |
2306 | CD 1 GTG>CTG (Val>Leu) | Hb St. Josef | HBA2:c.4G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33779 |
4071 | CD 1 (-G) | N/A | HBA2:c.4del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33779 |
431 | CD 1 GTG>ATG [Val>Met] | Hb A2-Fontanabuona | HBA2:c.4G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33779 |
432 | CD 1 GTG>GGG [Val>Gly] | Hb Antananarivo | HBA1:c.5T>G | HBA2:c.5T>G | α1, α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33780, 37584 |
433 | CD 1 GTG>GAG [Val>Glu] | Hb Thionville | HBA1:c.5T>A | HBA2:c.5T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33780, 37584 |
434 | CD 1 GTG>GCG [Val>Ala] | Hb Lyon-Bron | HBA2:c.5T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33780 |
3720 | CD 1/2 (+TG) | N/A | HBA2:c.6_7insTG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33781 |
2361 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA2:c.8T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33783 |
436 | CD 3 TCT>CCT [Ser>Pro] | Hb Central Middlesex | HBA1:c.10T>C | HBA2:c.10T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33785, 37589 |
2371 | CD 3 TCT>TGT [Ser>Cys] | Hb Teterboro | HBA2:c.11C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33786 |
2489 | CD 3 TCT>TAT [Ser>Tyr] | Hb Tallahassee | HBA2:c.11C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33786 |
438 | CD 4 CCT>CGT [Pro>Arg] | Hb Gorée | HBA2:c.14C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33789 |
439 | CD 4 CCT>CAT [Pro>His] | Hb Bellevue | HBA2:c.14C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33789 |
440 | CD 5 GCC>CCC [Ala>Pro] | Hb Karachi | HBA1:c.16G>C | HBA2:c.16G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33791, 37595 |
3983 | CD 5 GCC>ACC [Ala>Thr] | Hb Hengqin II | HBA2:c.16G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33791 |
443 | CD 6 GAC>AAC [Asp>Asn] | Hb Dunn | HBA1:c.19G>A | HBA2:c.19G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33794, 37598 |
445 | CD 6 GAC>CAC [Asp>His] | Hb Galliera II | HBA2:c.19G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33794 |
446 | CD 6 -GAC [-Asp] | Hb Boyle Heights | HBA1:c.19_21delGAC | HBA2:c.19_21delGAC | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33794, 37598 |
3038 | CD 6 GAC>TAC [Asp>Tyr] | Hb Woodville | HBA2:c.19G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33794 |
447 | CD 6 GAC>GGC [Asp>Gly] | Hb Swan River | HBA2:c.20A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33795 |
448 | CD 6 GAC>GTC [Asp>Val] | Hb Ferndown | HBA1:c.20A>T | HBA2:c.20A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33795, 37599 |
449 | CD 6 GAC>GCC [Asp>Ala] | Hb Sawara | HBA1:c.20A>C | HBA2:c.20A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33795, 37599 |
3762 | CD 7 AAG>GAG [Lys>Glu] | Hb Kurosaki | NM_000517.6(HBA2):c.22A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33797 |
2383 | CD 7 AAG>CAG [Lys>Gln] | Hb J-Brainerd | HBA2:c.22A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33797 |
2469 | CD 7 AAG>TAG | N/A | HBA2:c.22A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33797 |
2384 | CD 7 AAG>ACG [Lys>Thr] | Hb Nayarit | HBA2:c.23A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
451 | CD 7 AAG>AGG [Lys>Arg] | Hb Guanajuato | HBA2:c.23A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
452 | CD 7 AAG>AAC [Lys>Asn] | Hb Tatras | HBA1:c.24G>C | HBA2:c.24G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33799, 37603 |
2206 | CD 8 (-C) | N/A | HBA2:c.27delC | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33802 |
4011 | CD 9 AAC>TAC [Asn>Tyr] | N/A | HBA2:c.28A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33803 |
454 | CD 9 AAC>AGC [Asn>Ser] | Hb Zurich-Hottingen | HBA2:c.29A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33804 |
455 | CD 9 AAC>ACC [Asn>Thr] | Hb Broomfield | HBA1:c.29A>C | HBA2:c.29A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33804, 37608 |
457 | CD 9 AAC>AAG [Asn>Lys] | Hb Park Ridge | HBA2:c.30C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33805 |
3402 | CD 9 AAC>AAA [Asn>Lys] | Hb Zhaoqing | HBA2:c.30C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33805 |
3991 | CD 10 GTC>GAC [Val>Asp] | Hb Chumphae | HBA2:c.32T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33807 |
3791 | CD 11 AAG>GAG [Lys>Glu] | Hb Arbresle | HBA2:c.34A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33809 |
458 | CD 11 AAG>CAG [Lys>Gln] | Hb J-Wenchang-Wuming | HBA2:c.34A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33809 |
459 | CD 11 AAG>CAG [Lys>Glu] | Hb Anantharaj | HBA2:p.Lys12Glu | HBA1:p.Lys12Glu | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33809, 37613 |
3713 | CD 11 AAG>ACG [Lys>Thr] | N/A | HBA2:c.35A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33810 |
460 | CD 11 AAG>AAC or AAT [Lys>Asn] | Hb Albany-Suma | HBA1:c.36G>C | HBA1:c.36G>T | HBA2:c.36G>C | HBA2:c.36G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33811, 37615 |
2499 | CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur) | Hb J-Paris-I | HBA1:c.38C>A | α1 | Causative | α-chain variant | NG_000006.1 | 33813 |
2433 | CD 13-14 -GCCTGG [-Ala-Trp] | Hb Souli | HBA2:c.40_45delGCCTGG | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33815 |
3599 | CD 13 GCC>TCC [Ala>Ser] | Hb Binyang | HBA2:c.40G>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33815 |
462 | CD 13 GCC>CCC [Ala>Pro] | Hb Ravenscourt Park | HBA1:c.40G>C | HBA2:c.40G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33815, 37619 |
2977 | CD 13 GCC>GAC [Ala>Asp] | Hb Little Waltham | HBA2:c.41C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33816 |
3984 | CD 13 GCC>GTC [Ala>Val] | Hb Huidong | HBA2:c.41C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33816 |
3941 | CD 14 TGG>TCG [Trp>Ser] | Hb Jax | HBA2:c.44G>C | α2 | Causative | β-chain variant | NG_000006.1 | 33819 |
2348 | CD 14 TGG>TTG [Trp>Leu] | N/A | HBA2:c.44G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33819 |
2518 | CD 14 TGG>TGA | N/A | HBA2:c.45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33820 |
464 | CD 14 TGG>TGC [Trp>Cys] | Hb Bladensburg | HBA2:c.45G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33820 |
3761 | CD 15 GGT>CGT [Gly>Arg] | Hb Ottawa | HBA2:c.46G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33821 |
3841 | CD 15 GGT>AGT [Gly>Ser] | Hb Nanchang | HBA2:c.46G>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33821 |
3916 | CD 15 GGT>TGT [Gly>Cys] | Hb Orbassano | HBA2:c.46G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33821 |
4024 | CD 15 (-GG, +C) | N/A | HBA2:c.46_47delinsC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33821 |
3487 | CD 15 GGT>GTT [Gly>Val] | Hb Liaoning | HBA2:c.47G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33822 |
4063 | CD 15 (-G, +CC) | N/A | HBA2:c.47delinsCC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33822 |
3714 | CD 15/16 (+T) | N/A | HBA2:c.48_49insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 33823 |
3623 | CD 16 AAG>CAG [Lys>Gln] | Hb Heilongjiang | HBA2:c.49A>C | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33824 |
467 | CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas) | HbI | HBA2:c.49A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33824 |
469 | CD 16 AAG>ACG [Lys>Thr] | Hb Boa Esperanca | HBA2:c.50A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33825 |
470 | CD 16 AAG>AAT [Lys>Asn] | Hb Beijing | HBA2:c.51G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33826 |
3064 | CD 17 GTC>TTC [Val>Phe] | Hb Dapu | HBA2:c.52G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33827 |
2978 | CD 17 GTC>GAC [Val>Asp] | Hb Oxford | HBA2:c.53T>A | α2 | Causative | α-chain variant | NG_000006.1 | 33828 |
3885 | CD 17 (-C) (Hb Kunming) | N/A | HBA2:c.54delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33829 |
3037 | CD 18 GGC>CGC [Gly>Arg] | Hb Handsworth | HBA2:c.55G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33830 |
350 | CD 18 GGC>G-C | N/A | HBA2:c.56delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33831 |
472 | CD 18 GGC>GAC [Gly>Asp] | Hb Al-Ain Abu Dhabi | HBA1:c.56G>A | HBA2:c.56G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33831, 37635 |
473 | CD 19 GCG>GAG [Ala>Glu] | Hb J-Tashikuergan | HBA2:c.59C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33834 |
474 | CD 19 GCG>GAY [Ala>Asp] | Hb J-Kurosh | HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33834, 37638 |
3715 | CD 19 GCG>GTG [Ala>Val] | N/A | HBA2:c.59C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33834 |
2465 | CD 19 GCG>GC- | N/A | HBA2:c.60delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33835 |
475 | CD 20 CAC>TAC [His>Tyr] | Hb Necker Enfants-Malades | HBA1:c.61C>T | HBA2:c.61C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33836, 37640 |
476 | CD 20 CAC>GAC [His>Asp] | Hb Nikaia | HBA2:c.61C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33836 |
478 | CD 20 CAC>CGC [His>Arg] | Hb Hobart | HBA1:c.62A>G | HBA2:c.62A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33837, 37641 |
3989 | CD 20 CAC>CTC [His>Leu] | Hb Hebei | HBA2: c.62A>T | α2 | Causative | α-chain variant | NG_000006.1 | 33837 |
479 | CD 20 CAC>CAA [His>Gln] | Hb Le Lamentin | HBA2:c.63C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33838 |
351 | CD 21 GCT>TCT [Ala>Ser] | Hb Zoetermeer | HBA2:c.64G>T | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33839 |
481 | CD 21 GCT>CCT [Ala>Pro] | Hb Fontainebleau | HBA2:c.64G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33839 |
2351 | CD 21 GCT>GTT [Ala>Val] | Hb Venetia | HBA2:c.65C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33840 |
2207 | CD 21/22 +T | N/A | HBA2:c.66dupT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33841 |
483 | CD 22 GGC>GAC [Gly>Asp] | Hb J-Medellin | HBA1:c.68G>A | HBA2:c.68G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33843, 37647 |
352 | CD 22 GGC>GGT new donor consensus | N/A | HBA2:c.69C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
353 | CD 22 -C | N/A | HBA2:c.69delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
2438 | CD 22-26 (-9 bp) | Hb Zhanjiang | HBA2:c.69_77delCGAGTATGG | α2 | Causative | α-chain variant | NG_000006.1 | 33844 |
3915 | -α3.7;CD 23 GAG>AAG | Hb Chad | NG_000006.1:g.34247_38050del;33845G>A | α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33845 |
354 | CD 23 GAG>TAG [Glu>STOP] | N/A | HBA2:c.70G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33845 |
484 | CD 23 GAG>CAG [Glu>Gln] | Hb Memphis | HBA2:c.70G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33845 |
485 | CD 23 GAG>AAG [Glu>Lys] (Hb E-Keelung) | Hb Chad | HBA2:c.70G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33845 |
486 | CD 23 GAG>GGG [Glu>Gly] | Hb Reims | HBA1:c.71A>G | HBA2:c.71A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33846, 37650 |
487 | CD 23 GAG>GTG [Glu>Val] | Hb G-Audhali | HBA1:c.71A>T | HBA2:c.71A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33846, 37650 |
2368 | CD 23 GAG>GCG [Glu>Ala] | Hb Dayton | HBA2:c.71A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33846 |
488 | CD 23 GAG>GAT [Glu>Asp] | Hb Lisbon | HBA1:c.72G>T | HBA2:c.72G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33847, 37651 |
489 | CD 24 TAT>CAT [Tyr>His] | Hb Luxembourg | HBA1:c.73T>C | HBA2:c.73T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33848, 37652 |
490 | CD 24 TAT>GAT [Tyr>Asp] | Hb Creve Coeur | HBA2:c.73T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33848 |
2208 | CD 24 TAT>TAG | N/A | HBA2:c.75T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33850 |
2488 | CD 24 TAT>TAA | N/A | HBA2:c.75T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33850 |
3985 | CD 25 GGT>AGT [Gly>Ser] | Hb Jinwan | HBA2:c.76G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33851 |
2538 | CD 25 GGT>GAT [Gly>Asp] | Hb Cibeles | HBA2:c.77G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33852 |
355 | CD 26 GCG>ACG [Ala>Thr] | Hb Caserta | HBA2:c.79G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33854 |
3657 | CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro] | Hb Southern Italy | HBA2:c.[79G>A;391G>C] | α2 | Causative | α-thalassaemia | NG_000006.1 | 33854, 34425 |
493 | CD 26 GCG>GTG [Ala>Val] | Hb Campinas | HBA2:c.80C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33855 |
494 | CD GCG>GAG [Ala>Glu] | Hb Shenyang | HBA2:c.80C>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33855 |
495 | CD 27 GAG>AAG [Glu>Lys] | Hb Shuangfeng | HBA2:c.82G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33857 |
496 | CD 27 GAG>GGG [Glu>Gly] | Hb Fort Worth | HBA2:c.83A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33858 |
497 | CD 27 GAG>GTG [Glu>Val] | Hb Spanish Town | HBA2:c.83A>T | α2 | Causative | α-chain variant | NG_000006.1 | 33858 |
498 | CD 27 GAG>GCG [Glu>Ala] | Hb Hackney | HBA1:c.83A>C | HBA2:c.83A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33858, 37662 |
499 | CD 27 GAG>GAC [Glu>Asp] | Hb Hekinan | HBA2:c.84G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33859 |
3568 | CD 28 GCC>-CC | N/A | HBA2:c.85delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33860 |
356 | CD 29 CTG>CCG [Leu>Pro] | Hb Agrinio | HBA2:c.89T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33864 |
357 | CD 30 -GAG [-Glu] | N/A | HBA2:c.91_93delGAG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33866 |
503 | CD 30 GAG>AAG [Glu>Lys] | Hb O-Padova | HBA2:c.91G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33866 |
3766 | CD 30 GAG>CAG [Glu>Gln] | Hb G-Honolulu | HBA2:c.91G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33866 |
2210 | CD 31 AGG>CGG [Arg>Arg] | N/A | HBA2:c.94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33869 |
2487 | CD 31 AGG>GGG [Arg>Gly] | Hb Maranon | HBA2:c.94A>G | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
3217 | CD 31 AGG>TGG [Arg>Trp] | Hb Debao | HBA2:c.94A>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
365 | -α3.7;CD 31 AGG>--G | N/A | NG_000006.1:g.[33869_33870del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 33869, 34247 |
366 | CD 31 AGG>AAG [Arg>Lys] | N/A | HBA2:c.95G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33870 |
3745 | IVS I-1 G>A | N/A | HBA2:c.95+1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
2483 | IVS I-1 G>T | N/A | HBA2:c.95+1G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
359 | IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor (α-5nt) | N/A | HBA2:c.95+2_95+6delTGAGG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33872 |
360 | IVS I-5 G>A | N/A | HBA2:c.95+5 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33875 |
4043 | IVS I-57 C>T | N/A | HBA2:c.95+7C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33877 |
3729 | IVS I-11 (-24bp) (Hb Qujing) | N/A | HBA2:c.95+11_95+34del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33881 |
362 | IVS I-55 G>A | N/A | HBA2:c.95+55 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33925 |
3976 | IVS I-68 G>A | N/A | HBA2:c.96-50G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33938 |
3730 | IVS I-73 G>A | N/A | HBA2:c.96-45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33943 |
3877 | IVS I-114 G>T | N/A | HBA2:c.96-4G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33984 |
363 | IVS I-116 GCAGGA>GCGGGA acceptor | N/A | HBA2:c.96-2A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33986 |
2957 | IVS I-117 G>A | N/A | HBA2:c.96-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33987 |
506 | CD 31 AGG>AGC [Arg>Ser] | Hb Prato | HBA2:c.96G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33988 |
2209 | CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía) | Hb Rotterdam | HBA2:c.98T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33990 |
367 | CD 32 G>A | Hb Amsterdam | HBA2:c.99G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33991 |
3363 | CD 33 TTC>CTC [Phe>Leu] | Hb Worthing | HBA2:c.100T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33992 |
368 | CD 33 T>C | Hb Chartres | HBA2:c.101T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33993 |
3362 | CD 34 CTG>CCG [Leu>Pro] | Hb Bass Hill | HBA2:c.104T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33996 |
369 | CD 35 TCC>CCC [Ser>Pro] | Hb Evora | HBA2:c.106T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33998 |
511 | CD 35 TCC>TAC [Ser>Tyr] | Hb Shinagawa | HBA2:c.107C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
2999 | CD 35 TCC>TTC [Ser>Phe] | Hb Colorado | HBA2:c.107C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
512 | CD 36 TTC>CTC [Phe>Leu] | Hb Geisinger | HBA2:c.109T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34001 |
2373 | CD 37 CCC>TCC [Pro>Ser] | Hb Boskoop | HBA2:c.112C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34004 |
514 | CD 37 CCC>CTC [Pro>Leu] | Hb Manawatu | HBA2:c.113C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34005 |
515 | CD 37 CCC>CGC [Pro>Arg] | Hb Boumerdes | HBA2:c.113C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34005 |
516 | CD 37 +GAA [+Glu] | Hb Catonsville | HBA1:c.114_115insGAA | HBA2:c.114_115insGAA | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34006, 37810 |
2211 | CD 37 CCC>CC- | N/A | HBA2:c.114delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34006 |
2319 | CD 38 ACC>GCC [Thr>Ala] | Hb Beaconsfield | HBA1:c.115A>G | HBA2:c.115A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34007, 37811 |
3488 | CD 38 ACC>AAC [Thr>Asn] | Hb Pescara | HBA2:c.116C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34008 |
3765 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA2:c.118_120del | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34010 |
372 | CD 39-41 (-9 bp, + 8 bp) | N/A | NG_000006.1:g.34010_34018delinsTACTTCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34010 |
519 | CD 40 AAG>GAG [Lys>Glu] | Hb Kariya | HBA1:c.121A>G | HBA2:c.121A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34013, 37817 |
520 | CD 40 AAG>CAG [Lys>Gln] | Hb Linwood | HBA2:c.121A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34013 |
521 | CD 40 AAG>ATG [Lys>Met] | Hb Kanagawa | HBA2:c.122A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34014 |
524 | CD 40 AAG>AAC [Lys>Asn] | Hb Villiers le Bel | HBA2:c.123G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34015 |
2493 | CD 40 AAG>AA- | N/A | HBA2:c.123delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34015 |
525 | CD 41 ACC>TCC or AGC [Thr>Ser] | Hb Miyano | HBA1:c.124A>T | HBA1:c.125C>G | HBA2:c.124A>T | HBA2:c.125C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34016, 37820 |
3986 | CD 41 ACC>AAC [Thr>Asn] | Hb Zhuhai | HBA2:c.125C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34017 |
3489 | CD 42 TAC>GAC [Tyr>Asp] | Hb Huaxi | HBA2:c.127T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34019 |
373 | CD 42 TAC>CAC [Tyr>His] | Hb Barika | HBA2:c.127T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34019 |
3801 | CD 42 TAC>TGC [Tyr>Cys] | Hb Hauteluce | HBA2:c.128A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34020 |
527 | CD 43 TTC>GTC [Phe>Val] | Hb Torino | HBA1:c.130T>G | HBA2:c.130T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34022, 37826 |
528 | CD 43 TTC>ATC [Phe>Ile] | Hb Sens | HBA2:c.130T>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34022 |
2214 | CD 43 TTC>T-C | N/A | HBA2:c.131delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34023 |
2215 | CD 43/44 -C | N/A | HBA2:c.132delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34024 |
529 | CD 43 TTC>TTG [Phe>Leu] | Hb Hirosaki | HBA2:c.132C>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34024 |
3382 | CD 44 CCG>TCG [Pro>Ser] | Hb Xuchang | HBA2:c.133C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34025 |
3763 | CD 44 CCG>GCG [Pro>Ala] | Hb Milne | HBA2:c.133C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34025 |
532 | CD 44 CCG>CGG [Pro>Arg] | Hb Kawachi | HBA1:c.134C>G | HBA2:c.134C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34026, 37830 |
533 | CD 44 CCG>CTG [Pro>Leu] | Hb Milledgeville | HBA2:c.134C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34026 |
534 | CD 45 CAC>TAC [His>Tyr] | Hb Matsudo | HBA1:c.136C>T | HBA2:c.136C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34028, 37832 |
535 | CD 45 CAC>GAC [His>Asp] | Hb Poitiers | HBA1:c.136C>G | HBA2:c.136C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34028, 37832 |
537 | CD 45 CAC>CCC [His>Pro] | Hb Oita | HBA2:c.137A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34029 |
538 | CD 45 CAC>CAG [His>Gln] | Hb Bari | HBA2:c.138C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34030 |
2541 | CD 45 CAC>CAG [His>Gln]; CD 57 GGC>CGC [Gly>Arg] | Hb Blythe Boulevard | HBA2:c.[138C>G;172G>C] | α2 | Causative | α-chain variant | NG_000006.1 | 34030, 34064 |
2953 | CD 46 TTC>ATC [Phe>Ile] | Hb Brigante | HBA2:c.139T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34031 |
539 | CD 46 TTC>TTG or TTA or CTC [Phe>Leu] | Hb Rockaway | HBA1:c.139T>C | HBA1:c.141C>A | HBA1:c.141C>G | HBA2:c.139T>C | HBA2:c.141C>A | HBA2:c.141C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34031, 37835 |
540 | CD 46 TTC>GTC [Phe>Val] | Hb Hillingdon | HBA1:c.139T>G | HBA2:c.139T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34031, 37835 |
2376 | CD 46 TTC>TCC [Phe>Ser] | Hb Lake Tapawingo | HBA2:c.140T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34032 |
3405 | CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC) | N/A | HBA2:c.142_161del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34034 |
4107 | CD 47 GAC>AAC [Asp>Asn] | Hb Arya | HBA2:c.142G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
541 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA2:c.142G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
543 | CD 47 GAC>TAC [Asp>Tyr] | Hb Kurdistan | HBA2:c.142G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
544 | CD 47 GAC>GGC [Asp>Gly] (Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II) | Hb Beilinson | HBA1:c.143A>G | HBA2:c.143A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
545 | CD 47 GAC>GCC [Asp>Ala] | Hb Cordele | HBA1:c.143A>C | HBA2:c.143A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
2216 | CD 47 -A | N/A | HBA2:c.143delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34035 |
3053 | CD 47/48 (-4bp): (-ACCT) | N/A | HBA2:c.143_146delACCT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34035 |
2535 | CD 48-54 -18 bp | Hb Fenton | HBA2:c.146_163delTGAGCCACGGCTCTGCCC | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
546 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA2:c.146T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
3694 | CD 48 CTG>CAG [Leu>Gln] | Hb Ijselland | HBA2:c.146T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34038 |
2955 | CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG) | Hb Goya | HBA2:c.149_172del | α2 | Causative | α-chain variant | NG_000006.1 | 34041 |
374 | CD 49 -GC | N/A | HBA2:c.149_150delGC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34041 |
548 | CD 49 AGC>AGA or AGG [Ser>Arg] | Hb Savaria | HBA2:c.150C>A |HBA2:c.150C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34042 |
549 | CD 50 CAC>GAC [His>Asp] | Hb J-Sardegna | HBA2:c.151C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34043 |
2314 | CD 50 CAC>TAC [His>Tyr] | Hb South Yorkshire | HBA1:c.151C>T | HBA2:c.151C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34043, 37847 |
3923 | CD 50 CAC>CCC [His>Pro] | Hb Porter Brook | HBA2:c.152A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34044 |
551 | CD 50 CAC>CGC [His>Arg] | Hb Aichi | HBA1:c.152A>G | HBA2:c.152A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34044, 37848 |
552 | CD 50 CAC>CAG [His>Gln] | Hb Frankfurt | HBA2:c.153C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34045 |
2511 | -α3.7;CD 50 CAC>CAG [His>Gln] (-α3.7kb Frankfurt) | Hb Frankfurt | NG_000006.1:g.34247_38050del;34045C>G | α3.7 hybrid | Causative | α-chain variant | NG_000006.1 | 34045 |
2458 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton II | HBA2:c.154G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
554 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA2:c.154G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
3397 | CD 51 GGC>TGC [Gly>Cys] | Hb Hunan | HBA2:c.154G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
555 | CD 51 GGC>GAC [Gly>Asp] | Hb J-Abidjan | HBA1:c.155G>A | HBA2:c.155G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34047, 37851 |
2217 | CD 51/52 +G | N/A | HBA2:c.156_157insG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34048 |
2423 | CD 52 TCT>GCT [Ser>Ala] | Hb Cheshire | HBA1:c.157T>G | HBA2:c.157T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34049, 37853 |
3039 | CD 52-59 (-24bp): (-TCTGCCCAGGTTAAGGGCCACGGC) | Hb J-Biskra | HBA2: c.157_180del | α2 | Causative | α-chain variant | NG_000006.1 | 34049 |
557 | CD 52 TCT>TTT [Ser>Phe] | Hb Essex | HBA2:c.158C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34050 |
558 | CD 53 GCC>GAC [Ala>Asp] | Hb J-Rovigo | HBA2:c.161C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34053 |
376 | CD 54 (CAG>TAG) | N/A | HBA2:c.163C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34055 |
3693 | CD 54 CAG>-AG | N/A | HBA2:c.163delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34055 |
2472 | CD 54 CAG>CCG [Gln>Pro] | Hb Dhaka | HBA1:c.164A>C | HBA2:c.164A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34056, 37860 |
2397 | CD 54 CAG>CAC or CAT [Gln>His] | Hb Princes Risborough | HBA1:p.[Gln55His] | HBA2:p.[Gln55His] | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34057, 37861 |
563 | CD 55 GTT>GCT [Val>Ala] | Hb Gerland | HBA2:c.167T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34059 |
3079 | CD 55 +T | N/A | HBA2:c.168dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34060 |
3054 | CD 56 AAG>--G | N/A | HBA2:c.169_170delAA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34061 |
564 | CD 56 AAG>GAG [Lys>Glu] | Hb Shaare Zedek | HBA2:c.169A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34061 |
565 | CD 56 AAG>AGG [Lys>Arg] | Hb Port Huron | HBA1:c.170A>G | HBA2:c.170A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34062, 37866 |
569 | CD 57 GGC>GAC [Gly>Asp] (Hb Kagoshima, Hb Nishik-I, Hb Nishik-II, Hb Nishik-III) | Hb J-Norfolk | HBA2:c.173G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34065 |
570 | CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka) | Hb M-Boston | HBA2:c.175C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34067 |
4072 | CD 58 CAC>AAC [His>Asn] | Hb DG-Nancheng | HBA2:c.175C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34067 |
571 | CD 58 CAC>CAA [His>Gln] | Hb Boghé | HBA2:c.177C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34069 |
2474 | CD 58 CAC>CAG [His>Gln] | Hb Flurlingen | HBA2:c.177C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34069 |
2409 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA2:c.178G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34070 |
379 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA2:c.178G>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34070 |
377 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA2:c.179G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071 |
575 | CD 59 GGC>GTC [Gly>Val] | Hb Tottori | HBA1:c.179G>T | HBA2:c.179G>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071, 37875 |
577 | CD 60 AAG>GAG [Lys>Glu] | Hb Dagestan | HBA2:c.181A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34073 |
3987 | CD 60 AAG>AGG [Lys>Arg] | Hb Liuzhou-Liyong | HBA2:c.182A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34074 |
580 | CD 61 AAG>GAG [Lys>Glu] | Hb Miyagi | HBA1:c.184A>G | HBA2:c.184A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34076, 37880 |
3286 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA2:c.184A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34076 |
581 | CD 61 AAG>ACG [Lys>Thr] | Hb J-Anatolia | HBA2:c.185A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34077 |
583 | CD 62 GTG>ATG [Val>Met] | Hb Evans | HBA2:c.187G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34079 |
384 | CD 66 CTG>CCG [Leu>Pro] | Hb Dartmouth | HBA2:c.190T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34082 |
2218 | CD 63-76 (-42 bp) | N/A | HBA2:c.190_231del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34082 |
2362 | CD 63 GCC>GTC [Ala>Val] (Hb Aberystwyth) | Hb Nakhon Ratchsima | HBA2:c.191C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34083 |
586 | CD 64 GAC>TAC [Asp>Tyr] | Hb Persepolis | HBA1:c.193G>T | HBA2:c.193G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34085, 37889 |
588 | CD 64 GAC>AAC [Asp>Asn] (Hb Aida) | Hb G-Waimanalo | HBA2:c.193G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34085 |
589 | CD 64 GAC>GGC [Asp>Gly] | Hb Guangzhou-Hangzhou | HBA1:c.194A>G | HBA2:c.194A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34086, 37890 |
590 | CD 65 GCG>ACG [Ala>Thr] | Hb Part-Dieu | HBA2:c.196G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34088 |
591 | CD 65 GCG>GTG [Ala>Val] | Hb Bois Guillaume | HBA1:c.197C>T | HBA2:c.197C>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34089, 37893 |
3381 | CD 67 ACC>ATC [Thr>Ile] | Hb Sichuan | HBA2:c.203C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34095 |
593 | CD 68 AAC>GAC [Asn>Asp] | Hb Ube-2 | HBA2:c.205A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34097 |
595 | CD 68 AAC>CAC [Asn>His] | Hb St. Truiden | HBA2:c.205A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34097 |
2318 | CD 68 AAC>TAC [Asn>Tyr] | Hb Chelmsford | HBA1:c.205A>T | HBA2:c.205A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34097, 37901 |
2576 | CD 68 AAC>A-C | N/A | HBA2:c.206delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34098 |
3973 | -α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia) | Hb G-Philadelphia | NG_000006.1:g.[34099C>R;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34099, 34247 |
4070 | CD 68 (-C) | N/A | HBA2:c.207del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34099 |
596 | CD 68 AAC>AAA [Asn>Lys] (Hb D-Baltimore, Hb D-St. Louis, Hb D-Washington, Hb G-Azakouli, Hb G-Bristol, Hb G-Knoxville, Hb Stanleyville-I) | Hb G-Philadelphia | HBA2:c.207C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34099 |
598 | CD 69 GCC>ACC [Ala>Thr] | Hb Decines-Charpieu | HBA2:c.208G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34100 |
2335 | CD 70 GTG>GGG [Val>Gly] | Hb Edinburgh | HBA2:c.212T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34104 |
2312 | CD 71 GCG>ACG [Ala>Thr] | Hb Hatfield | HBA1:c.214G>A | HBA2:c.214G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34106, 37910 |
600 | CD 71 GCG>GAG [Ala>Glu] | Hb J-Habana | HBA1:c.215C>A | HBA2:c.215C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34107, 37911 |
602 | CD 72 CAC>GAC [His>Asp] | Hb Norton | HBA2:c.217C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34109 |
603 | CD 72 CAC>TAC [His>Tyr] (Hb Tanashi) | Hb Fuchu-I | HBA1:c.217C>T | HBA2:c.217C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34109, 37913 |
3705 | CD 72 (+C) | N/A | HBA2:c.217dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34109 |
604 | CD 72 CAC>CGC [His>Arg] | Hb Daneshgah-Tehran | HBA2:c.218A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34110 |
605 | CD 72 CAC>CAA [His>Gln] | Hb Gouda | HBA2:c.219C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34111 |
3055 | CD 73/74 (-4bp): (-GTGG) | N/A | HBA2:c.220_223delGTGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34112 |
2979 | CD 74 GAC>TAC [ Asp>Tyr] | Hb Uttoxeter | HBA2:c.223G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34115 |
606 | CD 74 GAC>AAC [Asp>Asn] | Hb G-Pest | HBA2:c.223G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34115 |
610 | CD 74 GAC>GCC [Asp>Ala] | Hb Lille | HBA1:c.224A>C | HBA2:c.224A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34116, 37920 |
3749 | CD 74 GAC>GGC [Asp>Gly] (Hb Chapel Hill) | Hb Liangqing | HBA2:c224A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34116 |
611 | CD 75 (-GAC) | Hb Watts | HBA2:c.226_228del | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34118 |
612 | CD 75 GAC>AAC [Asp>Asn] | Hb Matsue-Oki | HBA2:c.226G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
613 | CD 75 GAC>CAC [Asp>His] | Hb Q-Iran | HBA2:c.226G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
614 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA2:c.226G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
615 | CD 75 GAC>GTC [Asp>Val] | Hb Al-Hammadi Riyadh | HBA2:c.227A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34119 |
616 | CD 75 GAC>GGC [Asp>Gly] | Hb Mizushi | HBA2:c.227A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34119 |
617 | CD 76 ATG>AGG [Met>Arg] | Hb Walpole | HBA1:c.230T>G | HBA2:c.230T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34122, 37926 |
618 | CD 76 ATG>ACG [Met>Thr] | Hb Aztec | HBA2:c.230T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34122 |
619 | CD 76 ATG>AAG [Met>Lys] | Hb Noko | HBA1:c.230T>A | HBA2:c.230T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34122, 37926 |
620 | CD 76 ATG>ATA [Met>Ile] | Hb Hellux | HBA2:c.231G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34123 |
3632 | CD 76/77 (+T) | N/A | HBB:c.231_232insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34123 |
2486 | CD 77 CCC>TCC [Pro>Ser] | Hb Nile | HBA2:c.232C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34124 |
621 | CD 77 CCC>CAC [Pro>His] | Hb Toulon | HBA2:c.233C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34125 |
622 | CD 77 CCC>CTC [Pro>Leu] | Hb Asklipios | HBA2:c.233C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34125 |
623 | CD 77 CCC>CGC [Pro>Arg] | Hb GuiZhou | HBA1:c.233C>G | HBA2:c.233C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34125, 37929 |
624 | CD 78 AAC>GAC [Asn>Asp] | Hb J-Singa | HBA1:c.235A>G | HBA2:c.235A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34127, 37931 |
626 | CD 78 AAC>AAG or AAA [Asn>Lys] | Hb Stanleyville-II | HBA2:c.[237C>A ;237C>G] | α2 | Causative | α-chain variant | NG_000006.1 | 34129 |
627 | CD 79 GCG>ACG [Ala>Thr] | Hb Mantes-La-Jolie | HBA1:c.238G>A | HBA2:c.238G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34130, 37934 |
628 | CD 79 GCG>GGG [Ala>Gly] | Hb J-Singapore | HBA2:c.239C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34131 |
629 | CD 80 CTG>GTG [Leu>Val] | Hb Conakry | HBA2:c.241C>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34133 |
630 | CD 80 CTG>CGG [Leu>Arg] | Hb Ann Arbor | HBA2:c.242T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34134 |
3800 | CD 80 CTG>CCG [Leu>Pro] | Hb Robbinsdale | HBA2:c.242T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34134 |
631 | CD 81 TCC>CCC [Ser>Pro] | Hb Passy | HBA2:c.244T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34136 |
3884 | CD 81 TCC>TTC [Ser>Phe] | Hb Zhaotong | HBA2:c.245C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34137 |
2980 | CD 81 TCC>TAC [Ser>Tyr] | Hb Wolverhampton | HBA2:c.245C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34137 |
634 | CD 82 GCC>GAC [Ala>Asp] | Hb Garden State | HBA1:c.248C>A | HBA2:c.248C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34140, 37944 |
3974 | CD 82-83 (-CCTG) | N/A | HBA2:c.249_252del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34141 |
635 | CD 83 CTG>CCG [Leu>Pro] | Hb Les Andelys | HBA2:c.251T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34143 |
636 | CD 84 AGC>GGC [Ser>Gly] | Hb Wembley | HBA1:c.253A>G | HBA2:c.253A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34145, 37949 |
638 | CD 84 AGC>AAC [Ser>Asn] | Hb Meulan | HBA2:c.254G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34146 |
2970 | CD 84 AGC>ACC [Ser>Thr] | Hb Oelsnitz | HBA2:c.254G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34146 |
2446 | CD 85 GAC>CAC [Asp>His] | Hb Canuts II | HBA2:c.256G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
640 | CD 85 GAC>TAC [Asp>Tyr] | Hb Atago | HBA1:c.256G>T | HBA2:c.256G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34148, 37952 |
3952 | CD 85 GAC>AAC [Asp>Asn] | Hb G-Norfolk | HBA2:c.256G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
2355 | CD 85 GAC>GGC [Asp>Gly] | Hb Benton | HBA2:c.257A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34149 |
642 | CD 85 GAC>GTC [Asp>Val] | Hb Inkster | HBA2:c.257A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34149 |
2398 | CD 85 GAC>GAA or GAG [Asp>Glu] | Hb Aylesbury | HBA1:c.258C>A | HBA1:c.258C>G | HBA2:c.258C>A | HBA2:c.258C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34150, 37954 |
2372 | CD 86 CTG>GTG [Leu>Val] | Hb Ridgewood | HBA2:c.259C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34151 |
643 | CD 86 CTG>CGG [Leu>Arg] | Hb Moabit | HBA1:c.260T>G | HBA2:c.260T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34152, 37956 |
644 | CD 87 +9 bp [+Ser-Asp-Leu] | Hb Neuilly-sur-Marne | HBA1:c.253_261dup | HBA2:c.253_261dup | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34154, 37949 |
645 | CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai) | Hb M-Iwate | HBA2:c.262C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34154 |
646 | CD 87 CAC>AAC [His>Asn] | Hb Auckland | HBA1:c.262C>A | HBA2:c.262C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34154, 37958 |
648 | CD 87 CAC>CGC [His>Arg] | Hb Iwata | HBA1:c.263A>G | HBA2:c.263A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34155, 37959 |
2308 | CD 87 CAC>CAG [His>Gln] | Hb Lansing | HBA2:c.264C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
2549 | CD 87 CAC>CAA [His>Glu] | Hb Lansing (A) | HBA2:c.264C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
2367 | CD 88 GCG>ACG [Ala>Thr] | Hb Voorhees | HBA2:c.265G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34157 |
650 | CD 88 GCG>TCG [Ala>Ser] | Hb Loire | HBA1:c.265G>T | HBA2:c.265G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34157, 37961 |
651 | CD 88 GCG>GAG [Ala>Glu] | Hb Wroclaw | HBA1:c.266C>A | HBA2:c.266C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
652 | CD 88 GCG>GTG [Ala>Val] | Hb Columbia Missouri | HBA1:c.266C>T | HBA2:c.266C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
653 | CD 88 GCG>GGG [Ala>Gly] | Hb Valparaiso | HBA1:c.266C>G | HBA2:c.266C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
654 | CD 89 CAC>TAC [His>Tyr] | Hb Villeurbanne | HBA2:c.268C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34160 |
3569 | CD 89-93 (-13bp): (-CACAAGCTTCGGG) | N/A | HBA2:c.268_280delCACAAGCTTCGGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34160 |
655 | CD 89 CAC>CCC [His>Pro] | Hb Tokyo | HBA1:c.269A>C | HBA2:c.269A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34161, 37965 |
656 | CD 89 CAC>CGC [His>Arg] | Hb Tamano | HBA1:c.269A>G | HBA2:c.269A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34161, 37965 |
657 | CD 89 CAC>CTC [His>Leu] | Hb Luton | HBA2:c.269A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34161 |
2390 | CD 89 CAC>CAG [His>Gln] | Hb Enfield | HBA2:c.270C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34162 |
2388 | CD 90 AAG>CAG [Lys>Gln] | Hb Bergerac | HBA2:c.271A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34163 |
388 | CD 90 AAG>TAG | N/A | HBA2:c.271A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34163 |
659 | CD 90 AAG>GAG [Lys>Glu] | Hb Sudbury | HBA1:c.271A>G | HBA2:c.271A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34163, 37967 |
660 | CD 90 AAG>ATG [Lys>Met] (Hb Munakata) | Hb Handa | HBA1:c.272A>T | HBA2:c.272A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34164, 37968 |
661 | CD 90 AAG>AGG [Lys>Arg] | Hb Clinico-Madrid | HBA2:c.272A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34164 |
3572 | CD 90‐92 (-8bp): (‐AGCTTCGG) | N/A | HBA2:c.272_279delAGCTTCGG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34164 |
664 | CD 90 AAG>AAT (Hb Tagawa-I) | Hb J-Broussais | HBA2:c.273G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34165 |
2311 | CD 91 CTT>TTT [Leu>Phe] | Hb Treviso | HBA2: c.274C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
2470 | CD 91 CTT>ATT [Leu>Ile] | Hb Zara | HBA2:c.274C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
2952 | CD 91 CTT>CGT [Leu>Arg] | Hb La Mancha | HBA2:c.275T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34167 |
2956 | CD 91 CTT>CAT [Leu>His] | Hb Kalavasos | HBA2:c.275T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34167 |
666 | CD 91 CTT>CCT [Leu>Pro] | Hb Port Phillip | HBA2:c.275T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34167 |
667 | CD 92 CGG>TGG [Arg>Trp] | Hb Cemenelum | HBA1:c.277C>T | HBA2:c.277C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34169, 37973 |
3587 | CD 92 CGG>GGG [Arg>Gly] | Hb Leeuwarden | HBA2:c.277C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34169 |
669 | CD 92 CGG>CTG [Arg>Leu] | Hb Chesapeake | HBA2:c.278G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34170 |
670 | CD 92 CGG>CCG [Arg>Pro] | Hb Monou | HBA2:c.278G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34170 |
389 | CD 93 GTG>GGG [Val>Gly] | Hb Bronte | HBA2:c.281T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34173 |
673 | CD 94 GAC>TAC [Asp>Tyr] | Hb Setif | HBA2:c.283G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
674 | CD 94 GAC>AAC [Asp>Asn] | Hb Titusville | HBA2:c.283G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
675 | CD 94 GAC>CAC [Asp>His] | Hb Sunshine Seth | HBA2:c.283G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
3080 | CD 94 (+21 bp duplication) | Hb SKMC | HBA2:c.283_300+3dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34175 |
676 | CD 94 GAC>GTC [Asp>Val] | Hb Kirksey | HBA2:c.284A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34176 |
679 | CD 94 GAC>GAG [Asp>Glu] | Hb Roanne | HBA1:c.285C>G | HBA2:c.285C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34177, 37981 |
680 | CD 95 CCG>GCG [Pro>Ala] | Hb Denmark Hill | HBA2:c.286C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34178 |
682 | CD 95 CCG>TCG [Pro>Ser] | Hb Rampa | NM_000517.4(HBA2):c.286C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34178 |
683 | CD 95 CCG>CTG [Pro>Leu] | Hb G-Georgia | HBA2:c.287C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34179 |
2375 | CD 96 GTC>ATC [Vla>Ile] | Hb El Salvador | HBA2:c.289G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34181 |
686 | CD 96 GTC>GAC [Val>Asp] | Hb El Escorial | HBA2:c.290T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34182 |
687 | CD AAC>CAC [Asn>His] (Hb Shinbashi) | Hb Fuchu-II | HBA2:c.292A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34184 |
2350 | CD 97 AAC>GAC [Asn>Asp] | Hb Cheektowaga | HBA2:c.292A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34184 |
688 | CD 97 AAC>AAA [Asn>Lys] | Hb Dallas | HBA2:c.294C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34186 |
3988 | CD 98 TTC>GTC [Phe>Val] | Hb Xiangzhou | HBA2:c.295T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34187 |
689 | CD 98 TTC>TAC [Phe>Tyr] | Hb Mill Hill | HBA1:c.296T>A | HBA2:c.296T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34188, 37992 |
3610 | CD 99 AAG>TAG [Lys>STOP] | N/A | HBA2:c.298A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34190 |
2466 | CD 99 AAG>CAG [Lys>Gln] | Hb Burkina Fassa | HBA2:c.298A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34190 |
2416 | CD 99 AAG>ATG [Lys>Met] | N/A | HBA1:c.299A>T | α1 | Causative | α-chain variant | NG_000006.1 | 34191 |
2424 | CD 99 AAG>AGG [Lys>Arg] | Hb Papanui | HBA2:c.299A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34191 |
2370 | CD 99 AAG>AAC [Lys>Asn] | Hb Fulton | HBA2:c.300G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34192 |
391 | IVS II-2 GT>GA donor | N/A | HBA2:c.300+2T>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34194 |
3731 | IVS II-34 G>A | N/A | HBA2:c.300+34G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34226 |
300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34247_38050del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34247 |
2430 | 203 bp deletion | N/A | NG_000006.1:g.34305_34507del203 | α2 | Causative | α-thalassaemia | NG_000006.1 | 34305 |
392 | IVS II-142 G>A | N/A | HBA2:c.301-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34334 |
2220 | CD 101 CTA>CCA [Leu>Pro] | Hb Bishopstown | HBA2:c.305T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34339 |
692 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba I | HBA2:c.307A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34341 |
2304 | CD 102 AGC>AAC (Ser>Asn) | Hb Enschede | HBA2:c.308G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34342 |
694 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba III | HBA2:c.309C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34343 |
696 | CD 103 CAC>TAC [His>Tyr] | Hb Lombard | HBA2:c.310C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34344 |
394 | CD 103 CAC>CTC [His>Leu] | Hb Bronovo | HBA2:c.311A>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34345 |
698 | CD 103 CAC>CGC [His>Arg] | Hb Contaldo | HBA1:c.311A>G | HBA2:c.311A>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34345, 38156 |
2420 | CD 104 TGC>CGC [Cys>Arg] | Hb Iberia | HBA2:c.313T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34347 |
3056 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA2:c.313T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34347 |
396 | CD 104 TGC>TAC [Cys>Tyr] | Hb Sallanches | HBA2:c.314G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34348 |
3583 | CD 106 CTG>CGG [Leu>Arg] | Hb Beckett | HBA2:c.320T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34354 |
3913 | CD 107 GTG>CTG [Val>Leu] | Hb Liaobu | HBA2:c.322G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34356 |
2436 | CD 107 GTG>G-G | Hb Lynwood | HBA2:c.323delT | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34357 |
3611 | CD 108 ACC>GCC [Thr>Ala] | N/A | HBA2:c.325A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34359 |
4078 | CD 108 ACC>CCC [Thr>Pro] | N/A | HBA1:c.325A>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34359 |
2991 | CD 108 ACC>AAC [Thr>Asn] | Hb Rogliano | HBA1:c.326C>A | α1 | Causative | α-chain variant | NG_000006.1 | 34360 |
397 | CD 108 ACC>AAC [Thr>Asn] | Hb Bleuland | HBA2:c.326C>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34360 |
398 | CD 109 (-C) | Hb Sciacca | HBA1:c.328delC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34362 |
399 | CD 109 CTG>CGG [Leu>Arg] | Hb Suan Dok | HBA2:c.329T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34363 |
2571 | CD 109 CTG>CCG [Leu>Pro] | Hb Milano | HBA1:c.329T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34363 |
704 | CD 110 GCC>ACC [Ala>Thr] | Hb Tonosho | HBA1:c.331G>A | HBA2:c.331G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34365, 38176 |
401 | CD 110 GCC>GAC [Ala>Asp] | Hb Petah Tikva | HBA1:c.332C>A | HBA2:c.332C>A | α1 or α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34366 |
706 | CD 111 GCC>ACC [Ala>Thr] | Hb Mosella | HBA1:c.334G>A | HBA2:c.334G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34368, 38179 |
3982 | CD 111 GCC>TCC [Ala>Ser] | Hb Liuzhou-Yufeng | HBA1:c.334G>T | α1 | Causative | α-chain variant | NG_000006.1 | 34368 |
707 | CD 111 GCC>GTC [Ala>Val] | Hb Anamosa | HBA2:c.335C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34369 |
721 | CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu] | Hb Zaïre | HBA1:c.337_351dup | HBA2:c.337_351dup | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34371, 38182 |
4068 | CD 112 CAC>-AC | N/A | HBA2:c.337delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34371 |
2360 | CD 112 CAC>TAC [His>Tyr] | Hb Kansas City | HBA2:c.337C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34371 |
2366 | CD 112 CAC>AAC [His>Asn] | Hb Royal Oak | HBA2:c.337C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34371 |
709 | CD 112 CAC>CGC [His>Arg] (Hb Serbia) | Hb Strumica | HBA1:c.338A>G | HBA2:c.338A>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34372, 38183 |
3924 | CD 112 CAC>CCC [His>Pro] | Hb Beligneux | HBA2:c.338A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34372 |
402 | CD 112/113 -C | N/A | HBA2:c.339delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34373 |
404 | CD 113-116 (-12 bp) & CD 112 (C>G) | Hb Leida | HBA2:c.[339C>G;340_351delCTCCCCGCCGAG] | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34373 |
3482 | CD 113 CTC>TTC [Leu>Phe] | Hb Pretoria | HBA2:c.340C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34374 |
711 | CD 113 CTC>CGC [Leu>Arg] | Hb San Antonio | HBA2:c.341T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34375 |
712 | CD 113 CTC>CAC [Leu>His] | Hb Twin Peaks | HBA1:c.341T>A | HBA2:c.341T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34375, 38186 |
713 | CD 114 CCC>TCC [Pro>Ser] | Hb Melusine | NM_000517.6(HBA2):c.343C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34377 |
714 | CD 114 CCC>ACC [Pro>Thr] (Hb Bamako) | Hb Jura | HBA2:c.343C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34377 |
716 | CD 114 CCC>CGC [Pro>Arg] | Hb Chiapas | HBA1:c.344C>G | HBA2:c.344C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34378, 38189 |
2527 | CD 114 (+CC) | N/A | HBA2:c.344_345dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34378 |
3140 | CD 114 CCC>CC- | N/A | HBA2:c.345delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34379 |
2369 | CD 115 -GCC [-Ala] | Hb Towson | HBA2:c.346_348delGCC | α2 | Causative | α-chain variant | NG_000006.1 | 34380 |
717 | CD 115 GCC>GAC [Ala>Asp] | Hb J-Tongariki | HBA1:c.347C>A | HBA2:c.347C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34381, 38192 |
405 | CD 116 GAG>TAG | N/A | HBA2:c.349G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
718 | CD 116 GAG>CAG [Glu>Gln] | Hb Oleander | HBA1:c.349G>C | HBA2:c.349G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34383, 38194 |
2221 | CD 115 -GAGTTCACCCC [166 aa] | N/A | HBA2:c.349_359delGAGTTCACCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
3041 | CD 116 GAG>AAG [Glu>Lys] | Hb O-Indonesia | HBA2:c.349G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34383 |
2337 | CD 116 GAG>GTG [Glu>Val] | Hb Walsgrave | HBA2:c.350A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34384 |
722 | CD 117 TTC>ATC [Phe>Ile] | Hb Ambroise Pare | HBA2:c.352T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34386 |
2023 | CD 117 TTC>TCC [Phe>Ser] | Hb Foggia | HBA2:c.353T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34387 |
3970 | CD 117 TTC>TTG [Phe>Leu] | Hb Jendouba | HBA2:c.354C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34388 |
2951 | CD 118 ACC>ATC [Thr>Ile] | Hb Cervantes | HBA2:c.356C>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34390 |
3028 | CD 119 CCT>TCT [Pro>Ser] | Hb Macarena | HBA2:c.358C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34392 |
3271 | CD 119 CCT>GCT [Pro>Ala] (Hb Lakeview Terrace) | Hb Arcadia | HBA2:c.358C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34392 |
3716 | CD 119 CCT>CAT [Pro>His] | N/A | HBA2:c.359C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34393 |
727 | CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham) | Hb J-Meerut | HBA2:c.362C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34396 |
3029 | CD 121 (+3bp): (+GTG) | Hb El Retiro | HBA2:c.364_366dupGTG | α2 | Causative | α-chain variant | NG_000006.1 | 34398 |
3042 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA2:c.367C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34401 |
2356 | CD 122 CAC>CTC [His>Leu] | Hb Dubai | HBA2:c.368A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34402 |
3961 | CD 122/123 (-CG,+GA) | Hb Nanning | HBA2:c.369_370delinsGA | α2 | Causative | α-chain variant | NG_000006.1 | 34403 |
730 | CD 122 CAC>CAG [His>Gln] | Hb Westmead | HBA2:c.369C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34403 |
731 | CD 123 GCC>ACC [Ala>Thr] (Hb Croxley Green) | Hb Santa Barnabas | HBA2:c.370G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34404 |
2457 | CD 123 GCC>GTC [Ala>Val] | Hb Pressath | HBA2:c.371C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34405 |
734 | CD 124 TCC>CCC [Ser>Pro] | Hb Policoro | HBA2:c.373T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34407 |
3748 | CD 124 TCC>ACC [Ser>Thr] | Hb Huadu | HBA2:c.373T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34407 |
2444 | CD 124 TCC>TTC [Ser>Phe] | Hb Batley | HBA1:c.374C>T | HBA2:c.374C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34408, 38219 |
3862 | CD 125 (+C) | N/A | HBA2:c.376dupC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34410 |
408 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze | HBA2:c.377T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
409 | CD 125 CTG>CGG [Leu>Arg] | Hb Plasencia | HBA2:c.377T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
736 | CD 125 CTG>CAG [Leu>Gln] | Hb West-Einde | HBA2:c.377T>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
3305 | CD 126 GCG>-CG | N/A | HBA2:c.379delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34413 |
3758 | CD 126 GAC>AAC [Asp>Asn] | Hb Tarrant | HBA2:c.379G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34413 |
741 | CD 126 GAC>GGC [Asp>Gly] | Hb West One | HBA2:c.380A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34414 |
742 | CD 126 GAC>GGC [Asp>Val] | Hb Fukutomi | HBA1:c.380A>T | HBA2:c.380A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34414, 38225 |
2338 | CD 127 AAG>GAG [Lys>Glu] | Hb Coombe Park | HBA2:c.382A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34416 |
2519 | CD 127 AAG>TAG [Lys>STOP] | N/A | HBA2:c.382A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34416 |
2530 | CD 127 AAG>AGG [Lys>Arg] | Hb Longview | HBA2:c.383A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34417 |
3612 | CD 127 AAG>ATG [Lys>Met] | N/A | HBA2:c.383A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34417 |
744 | CD 127 AAG>ACG [Lys>Thr] | Hb St. Claude | HBA1:c.383A>C | HBA2:c.383A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34417, 38228 |
745 | CD 127 AAG>AAT or AAC [Lys>Asn] | Hb Jackson | HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34418, 38229 |
2480 | CD 129 CTG>-TG | Hb Hamilton Hill | HBA2:c.388delC | α2 | Causative | α-chain variant | NG_000006.1 | 34422 |
412 | CD 129 CTG>CCG [Leu>Pro] | Hb Utrecht | HBA2:c.389T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34423 |
3613 | CD 129 CTG>CGG [Leu>Arg] | N/A | HBA2:c.389T>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34423 |
413 | CD 130 GCT>CCT [Ala>Pro] | Hb Sun Prairie | HBA2:c.391G>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34425 |
750 | CD 130 GCT>GAT [Ala>Asp] | Hb Yuda | HBA2:c.392C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34426 |
414 | CD 131 TCT>CCT [Ser>Pro] | Hb Questembert | HBA2:c.394T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34428 |
415 | CD 132 GTG>GGG [Val>Gly] | Hb Caen | HBA1:c.398T>G | HBA2:c.398T>G | α1 or α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34432 |
4085 | CD 132 (+T) | Hb Balkh | HBA2:c.398dup | α2 | Causative | α-chain variant | NG_000006.1 | 34432 |
3404 | CD 133-135 (-AGCACCG) | Hb Aalesund | HBA2:c.400_406del | α2 | Causative | α-chain variant | NG_000006.1 | 34434 |
756 | CD 133 AGC>AAC [Ser>Asn] | Hb Saclay | HBA1:c.401G>A | HBA2:c.401G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34435, 38246 |
757 | CD 133 AGC>AGA [Ser>Arg] (Hb Footscray) | Hb Val de Marne | HBA2:c.402C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34436 |
758 | CD 134 ACC>GCC [Thr>Ala] | Hb Brunswick | HBA2:c.403A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34437 |
759 | CD 134 ACC>AGC or TCC [Thr>Ser] | Hb Kenton | HBA1:c.403A>T | HBA1:c.404C>G | HBA2:c.403A>T | HBA2:c.404C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34437, 34438, 38248, 38249 |
761 | CD 135 GTG>CTG [Val>Leu] | Hb Tottenham | HBA2:c.406G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34440 |
764 | CD 136 CTG>ATG [Leu>Met] | Hb Chicago | HBA2:c.409C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34443 |
417 | CD 136 CTG>CCG [Leu>Pro] | Hb Bibba | HBA2:c.410T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34444 |
766 | CD 136 CTG>CGG [Leu>Arg] | Hb Toyama | HBA1:c.410T>G | HBA2:c.410T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34444, 38255 |
2540 | CD 137-138 ACCTCC>ACTCTC | Hb Pohnpei | HBA2:c.414_416delinsTCT | α2 | Causative | α-chain variant | NG_000006.1 | 34448 |
768 | CD 138 TCC>CCC [Ser>Pro] | Hb Attleboro | HBA1:c.415T>C | HBA2:c.415T>C | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34449, 38260 |
770 | CD 138 TCC>TTC [Ser>Phe] | Hb Frauenfeld | HBA2:c.416C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34450 |
772 | CD 139 AAA>GAA [Lys>Glu] | Hb Hanamaki-2 | HBA2:c.418A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34452 |
3379 | CD 139 AAA>CAA [Lys>Gln] | Hb Jilin | HBA2:c.418A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34452 |
2981 | CD 139 AAA>AGA [Lys>Arg] | Hb Witham | HBA2:c.419A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34453 |
774 | CD 139 AAA>AAC [Lys>Asn] | Hb Fukui | HBA2:c.420A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34454 |
775 | CD 139 (-A) | Hb Wayne | HBA2:c.420delA | α2 | Causative | α-chain variant | NG_000006.1 | 34454 |
3712 | CD 140 TAC>TCC [Tyr>Ser] | Hb Angers | HBA2:c.422A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34456 |
777 | CD 140 TAC>TAA | Hb Natal | HBA2:c.423C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34457 |
778 | CD 141 CGT>CAT [Arg>Ser] | Hb J-Cubujuqui | HBA1:c.424C>A | HBA2:c.424C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34458, 38269 |
780 | CD 141 CTG>TGT [Arg>Cys] | Hb Nunobiki | HBA2:c.424C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34458 |
781 | CD 141 CGT>CCT [Arg>Pro] | Hb Singapore | HBA2:c.425G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34459 |
418 | CD 142 (TAA>CAA) >172aa | Hb Constant Spring | HBA2:c.427T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
419 | CD 142 (TAA>AAA) >172aa | Hb Icaria | HBA2:c.427T>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
421 | CD 142 (TAA>GAA) >172aa | Hb Seal Rock | HBA2:c.427T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
785 | CD 142 TAA>CAA>CAT | Hb Zurich-Altstetten | HBA2:c.[427T>C;429A>T] | α2 | Causative | α-chain variant | NG_000006.1 | 34461 |
420 | CD 142 TAA>TCA >172aa | Hb Koya Dora | HBA2:c.428A>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34462 |
2526 | CD 142 TAA>TTA >172aa | Hb Kinshasa | HBA2:c.428A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34462 |
422 | CD 142 (TAA>TAT) >172aa | Hb Paksé | HBA2:c.429A>T | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34463 |
2230 | -α3.7 (type II) | N/A | NG_000006.1:g.34478_38288del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34478 |
2226 | 3'UTR +46 C>A | N/A | HBA2:c.*46C>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34509 |
3753 | 3'UTR +71 G>C | N/A | HBA2:c.*71G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34534 |
428 | 3'UTR -16 bp | N/A | HBA2:c.*74_*89delCCTTCCTGGTCTTTGA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34537 |
3733 | 3'UTR +82 G>A | N/A | HBA2:c.*82G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
4041 | 3.8 kb deletion | N/A | NC_000016.10:g.173682_177493del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
4111 | Poly A (AATAAA>AAΑΑΑ) | N/A | HBA2:c.*91delT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34554 |
425 | Poly A (AATAAA>AATGAA) (αPolyA2) | N/A | HBA2:c.*92A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34555 |
426 | Poly A (AATAAA>AATA--) | N/A | HBA2:c.*93_*94delAA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34556 |
424 | Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi) | N/A | HBA2:c.*94A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
427 | Poly A (AATAAA>AATAAC) | N/A | HBA2:c.*94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
3805 | Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication) | N/A | NG_000006.1:g.[34557A>G;37979_379996dup] | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34557 |
3734 | 3'UTR +98 T>C | N/A | HBA2:c.*98T>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34561 |
2228 | 3'UTR +107 A>G (3' UTR +832 G>A) | N/A | HBA2:c.*107A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34570 |
2231 | -α3.7 (type III) | N/A | NG_000006.1:g.34570_38381del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34570 |
2263 | α-ZF | N/A | NC_000016.10:g.174046_192396del | α1 | Causative | α-thalassaemia | NG_000006.1 | 34909 |
303 | -α2.7 | N/A | NG_000006.1:g.36664_39364del2701 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 36664 |
302 | -α2.4 | N/A | NG_000006.1:g.36859_39252del | α1 | Causative | α-thalassaemia | NG_000006.1 | 36859 |
304 | -α3.5 | N/A | NG_000006.1:g.37464_40964del3501 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37464 |
3764 | -4 G>C | N/A | HBA1:c.-41C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37539 |
340 | CAP +22 T>C | N/A | HBA1:c.-16T>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37564 |
3735 | Cap +23 C>G | N/A | HBA1:c.-15C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37565 |
2203 | CAP +29 (G>C) | N/A | HBA1:c.-9G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37571 |
341 | Init CD ATG>GTG | N/A | HBA1:c.1A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37580 |
3147 | Init CD ATG>AAG [Met>Lys] | N/A | HBA1:c.2T>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37581 |
3250 | Init CD ATG>A-G | N/A | HBA1:c.2delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
3719 | Init CD ATG>ACG [Met>Thr] | N/A | HBA1:c.2T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
429 | CD 1 GTG>TTG [Val>Leu] | Hb Baldock | HBA1:c.4G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37583 |
435 | CD 2 CTG>CGG [Leu>Arg] | Hb Chongqing | HBA1:c.8T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37587 |
3699 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA1:c.8T>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37587 |
2352 | CD 2/3 +CTG [+Leu] | Hb Pittsburgh | HBA1:c.9_10insCTG | α1 | Causative | α-chain variant | NG_000006.1 | 37588 |
437 | CD 3 TCT>TTT [Ser>Phe] | Hb Douala | HBA1:c.11C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37590 |
3981 | CD 5 GCC>ACC [Ala>Thr] | Hb Hengqin I | HBA1:c.16G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37595 |
441 | CD 5 GCC>GAC [Ala>Asp] | Hb J-Toronto | HBA1:c.17C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37596 |
442 | CD 6 GAC>TAC [Asp>Tyr] | Hb Woodville | HBA1:c.19G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
444 | CD 6 GAC>CAC [Asp>His] | Hb Galliera I | HBA1:c.19G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
3922 | CD 6 GAC>GAG [Asp>Glu] | Hb Brammer | HBA1:c.21C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37600 |
450 | CD 7 AAG>GAG [Lys>Glu] | Hb Kurosaki | HBA1:c.22A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37601 |
4006 | CD 7 AAG>A-G (g.188 (GenBank MK600512.1)) | N/A | HBA1:c.23delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37602 |
2987 | CD 9 AAC>GAC [Asn>Asp] | Hb Farnborough | HBA1:c.28A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37607 |
453 | CD 9 AAC>AGC [Asn>Ser] | Hb Anadour | HBA1:c.29A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37608 |
456 | CD 9 AAC>AAG or AAA [Asn>Lys] | Hb Delfzicht | HBA1:c.30C>G | HBA1:c.30C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37609 |
3953 | CD 11 AAG>CAG [Lys>Gln] | Hb J-Wenchang-Wuming | HBA1:c.34A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37613 |
461 | CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur) | Hb J-Paris-I | HBA2:c.38C>A | α2 | Causative | α-chain variant | NG_000006.1 | 37617 |
2386 | CD 13 GCC>ACC [Ala>Thr] | Hb Olivet | HBA1:c.40G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37619 |
347 | CD 14 TGG>CGG [Trp>Arg] | Hb Evanston | HBA1:c.43T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37622 |
349 | CD 14 TGG>TAG [Trp>STOP] | N/A | HBA1:c.44G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37623 |
2380 | CD 14 TGG>TTG [Trp>Leu] | Hb Basel | HBA1:c.44G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37623 |
2365 | CD 15 GGT>TGT [Gly>Cys] | Hb St. Rose | HBA1:c.46G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
465 | CD 15 GGT>CGT [Gly>Arg] (Hb Siam) | Hb Ottawa | HBA1:c.46G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
466 | cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza) | Hb I-Interlaken | HBA1:c.47G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37626 |
2509 | CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas) | HbI | HBA1:c.49A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37628 |
3395 | CD 16 AAG>TAG [Lys>STOP] | N/A | HBA1:c.49A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37628 |
468 | CD 16 AAG>ATG [Lys>Met] | Hb Harbin | HBA1:c.50A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37629 |
471 | CD 18 GGC>CGC [Gly>Arg] | Hb Handsworth | HBA1:c.55G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
2353 | CD 18 GGC>TGC [Gly>Cys] | Hb Lima | HBA1:c.55G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
3000 | CD 18 GGC>AGC [ Gly>Ser] | Hb King Ecgbert | HBA1:c.55G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
2205 | CD 20 +T | N/A | HBA1:c.62_63insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37641 |
2285 | CD 20 CAC>CCC [His>Pro] (Hb Anderlecht) | Hb Fulton-Georgia | HBA1:c.62A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37641 |
2317 | CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin) | Hb Brugg | HBA1:c.63C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37642 |
4102 | CD 20 CAC>CAG [His>Gln] | Hb Ormylia | HBA1:c.63C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37642 |
482 | CD 21 GCT>GAT [Ala>Asp] | Hb J-Nyanza | HBA1:c.65C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37644 |
3266 | CD 22 GGC>GGT [Gly>Gly] | N/A | HBA1:c.69C>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37648 |
3267 | CD 23 GAG>TAG | N/A | HBA1:c.70G>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37649 |
3757 | CD 23 GAG>CAG [Glu>Gln] | Hb Memphis | HBA1:c.70G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37649 |
491 | CD 24 TAT>TGT [Tyr>Cys] | Hb Ramona | HBA1:c.74A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37653 |
3954 | CD 16 AAG>AAC [Lys>Asn] | Hb Beijing | HBA1:c.51G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37656 |
3942 | CD 26 GCG>GGG [Ala>Gly] | N/A | HBA1:c.80C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37659 |
2510 | CD 27 GAG>GAC [Glu>Asp] | Hb Hekinan | HBA1:c.84G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
2983 | CD 27 GAG>GAT [Glu>Asp] | Hb Hekinan II | HBA1:c.84G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
2995 | CD 28 GCC>ACC [Ala>Thr] | Hb Bramall Lane | HBA1:c.85G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37664 |
3032 | CD 28 GCC>TCC [Ala>Ser] | N/A | HBA1:c.85G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37664 |
2313 | CD 28 GCC>GTC [Ala>Val] | Hb Nedlands | HBA1:c.86C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37665 |
2310 | CD 29 CTG>GTG [Leu>Val] | Hb Kosovo | HBA1:c.88C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37667 |
3030 | CD 30 GAG>TAG | N/A | HBA1:c.91G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37670 |
3767 | CD 30 GAG>AAG [Glu>Lys] | Hb O-Padova | HBA1:c.91G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37670 |
502 | CD 30 GAG>CAG [Glu>Gln] (Hb G-Chinese, Hb G-Hong Kong, Hb G-Singapore) | Hb G-Honolulu | NM_000558.5(HBA1):c.91G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37670 |
504 | CD 30 GAG>GCG [Glu>Ala] | Hb Bom Jesus da Lapa | HBA1:c.92A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
505 | CD 30 GAG>GTG [Glu>Val] | Hb Itapira | HBA1:c.92A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
2402 | CD 31 AGG>ACG [Arg>Thr] | Hb Mao | HBA1:c.95G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37674 |
3049 | IVS I-1 AGGT>AGCT donor | N/A | HBA1:c.95+1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37675 |
358 | IVS I-1 AGGT>AGAT donor | N/A | HBA1:c.95+1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37675 |
2204 | IVS I-4 A>G | N/A | HBA1:c.95+4A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37678 |
361 | IVS I-5 G>A | N/A | HBA1:c.95+5 G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37679 |
3431 | IVS I-38 C>T | N/A | HBA1:c.95+38C>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37712 |
2212 | IVS I-45 G>C | N/A | HBA1:c.95+45G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37719 |
2451 | IVS I-116 A>G | N/A | HBA1:c.96-2A>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37790 |
3251 | IVS I-117 GCAGGA>GCACGA acceptor | N/A | HBA1:c.96-1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37791 |
364 | IVS I-117 GCAGGA>GCAAGA acceptor | N/A | HBA1:c.96-1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37791 |
2381 | CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya) | Hb Queens Park | HBA1:c.98T>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37794 |
2986 | CD 32 ATG>ACG [Met>Thr] | Hb Bridlington | HBA1:c.98T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37794 |
3252 | CD 32 ATG>ATA [Met>Ile] | Hb Amsterdam-A1 | HBA1:c.99G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37795 |
509 | CD 34 CTG>CGG [Leu>Arg] (Hb Ogi) | Hb Queens | HBA1:c.104T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37800 |
2968 | CD 36 TTC>TAC [ Phe>Tyr] | Hb Kempten | HBA1:c.110T>A | α1 | Causative | α-chain variant | NG_000006.1 | 37806 |
370 | CD 37 -CCC [-Pro) | Hb Heraklion | HBA1:c.112_114delCCC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37808 |
4077 | CD 37 CCC>CC- | N/A | HBA1:c.114del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37810 |
517 | CD 38 ACC>ATC [Thr>Ile] | Hb Chelsea | HBA1:c.116C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37812 |
371 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA1:c.118_120del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37814 |
3403 | CD 39 +A | N/A | HBA2:c.118_119insA | α2 | Causative | α-thalassaemia | NG_000006.1 | 37814 |
3856 | CD 40-41 (-AAGACC) | N/A | HBA1:c.121_126delAAGACC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37817 |
522 | CD 40 AAG>ACG [Lys>Thr] | Hb Pisa | HBA1:c.122A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37818 |
523 | CD 40 AAG>AAC [Lys>Asn] | Hb Saratoga Springs | HBA1:c.123G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37819 |
2385 | CD 42 TAC>TCC [Tyr>Ser] | Hb Erzeroum | HBA1:c.128A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37824 |
3557 | CD 43 TTC>CTC [Phe>Leu] | Hb Vanvitelli | HBA1:c.130T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37826 |
3264 | CD 44 CCG>TCG [Pro>Ser] | Hb Wiangpapao | HBA1:c.133C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
530 | CD 44 CCG>GCG [Pro>Ala] (Hb Milne) | Hb Hagerstown | HBA1:c.133C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
2468 | CD 44 +C | N/A | HBA1:c.134_135insC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37830 |
536 | CD 45 CAC>CGC [His>Arg] | Hb Fort de France | HBA1:c.137A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37833 |
542 | CD 47 GAC>AAC [Asp>Asn] | Hb Arya | HBA1:c.142G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
2500 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA1:c.142G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
547 | CD 48 CTG>CCG [Leu>Pro] | Hb Reading | HBA1:c.146T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37842 |
3040 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA1:c.146T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37842 |
3026 | CD 49 AGC>CGC [Ser>Arg] | Hb Puerta del Sol | HBA1:c.148A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37844 |
2993 | CD 49 AGC>AAC [Ser>Asn] | Hb Furuset | HBA1:c.149G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37845 |
2529 | CD 50 +GGAGCC | Hb Bakersfield | HBA1:c.151_152insGGAGCC | α1 | Causative | α-chain variant | NG_000006.1 | 37847 |
550 | CD 50 CAC>CTC [His>Leu] | Hb Dublin | NM_000558.5(HBA1):c.152A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37848 |
2501 | CD 50 CAC>CAG [His>Gln] | Hb Frankfurt | HBA1:c.153C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37849 |
2502 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA1:c.154G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
553 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton | HBA1:c.154G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
375 | CD 51-55 (-13 bp deletion) | N/A | HBA1:c.155_167delGCTCTGCCCAGGT | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37851 |
556 | CD 52-59 (-24 bp) | Hb J-Biskra | HBA1:c.157_180del | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
3442 | CD 51-58 (+24 bp) | Hb Choisy | HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
3560 | CD 52 TCT>TGT [Ser>Cys] | Hb Dongguan | HBA1:c.158C>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37854 |
4009 | CD53 GCC>ACC [Ala>Thr] (g.443 (GenBank MK600512.1)) | N/A | HBA1:c.160G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37856 |
559 | CD 54 CAG>GAG [Gln>Glu] (Hb J-Paris-II, Hb Uppsala) | Hb Mexico | HBA1:c.163C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37859 |
560 | CD 54 CAG>CGG [Gln>Arg] (Hb Hikoshima) | Hb Shimonoseki | HBA1:c.164A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37860 |
2417 | CD 54 CAG>CGG [Gln>Arg] | Hb Shimonoseki | HBA1:c.164A>G | α1, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 37860 |
3626 | CD 54 CAG>CAT [Gln>His] | Hb Goole | HBA1:c.165G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37861 |
561 | CD 55 GTT>CTT [Val>Leu] (Hb Poland) | Hb Roubaix | HBA1:c.166G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37862 |
562 | CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1) | Hb Gerland | HBA1:c.167T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37863 |
566 | CD 56 AAG>ACG [Lys>Thr] | Hb Thailand | HBA1:c.170A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37866 |
567 | CD 56 AAG>AAT or AAC [Lys>Asn] | Hb Belliard | HBA1:c.171G>C | HBA1:c.171G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37867 |
568 | CD 57 GGC>CGC [Gly>Arg] | Hb L-Persian Gulf | HBA1:c.172G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
3075 | CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH) | Hb Kaohsiung Veterans General Hospital | HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
3962 | CD 57 GGC>TGC [Gly>Cys] | Hb Kirikiriroa | HBA1:c.172G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
3175 | CD 58 CAC>CTC [His>Leu] | Hb Kirklareli | HBA1:c.176A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37872 |
3280 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA1:c.178G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37874 |
573 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA1:c.178G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37874 |
378 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA1:c.179G>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37875 |
3624 | CD 60 AAG>GAG [Lys>Glu] | Hb Liuzhou | HBA1:c.182A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37878 |
578 | CD 60 AAG>AAT | Hb Zambia | HBA1:c.183G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37879 |
380 | CD 61 (-AAG) | Hb Clinic | HBA1:c.184_186del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37880 |
3334 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA1:c.184A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
3717 | CD 61 AAG>-AG | N/A | HBA1:c.184del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
2982 | CD 61 AAG>AGG [Lys>Arg] | Hb Derby | HBA1:c.185A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37881 |
582 | CD AAG>AAT [Lys>Asn] | Hb J-Buda | HBA1:c.186G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37882 |
381 | CD 62 (-GTG) [-Val] | Hb Aghia Sophia | HBA1:c.187_189del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
382 | CD 62 GTG>-TG | Hb Champaign | HBA1:c.187delG | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
2429 | CD 62 GTG>GCG [Val>Ala] | N/A | HBA1:c.188T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37884 |
2347 | CD 62 -G | N/A | HBA1:c.189delG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37885 |
3015 | CD 63 GCC>ACC [Ala>Thr] | Hb Greenville-NC | HBA1:c.190G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37886 |
585 | CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise) | Hb Pontoise | NM_000558.5(HBA1):c.191C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37887 |
383 | CD 64-74 (-33 bp) | N/A | HBA1:c.193_225del33 | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37889 |
587 | CD 64 GAC>CAC [Asp>His] | Hb Q-India | HBA1:c.193G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
2528 | CD 64 GAC>AAC [Asp>Asn] (Hb Wädenswil, Hb Burgos) | Hb G-Waimanalo | HBA1:c.193G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
2455 | CD 64 GAC>GCC [Asp>Ala] | Hb Lucan | HBA1:c.194A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37890 |
3788 | CD 65 GCG>CCG [Ala>Pro] | Hb Maruchi | HBA1:c.196G>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37892 |
3373 | CD 67 ACC>-CC | N/A | HBA1:c.202delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37898 |
594 | CD 68 AAC>CAC [Asn>His] | Hb Jeddah | HBA1:c.205A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37901 |
597 | CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn] | Hb Esch | HBA1:c.207_208insGCGCTGACCAAC | α1 | Causative | α-chain variant | NG_000006.1 | 37904 |
599 | CD 70 GTG>ATG [Val>Met] | Hb Haaksbergen | HBA1:c.211G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37907 |
4007 | CD 70 GTG>TTG [Val>Leu] (g.494 (GenBank MK600512.1)) | N/A | HBA1:c.211G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37907 |
385 | CD 74/75 -GAC [- Asp] | N/A | HBA1:c.212_214delGAC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37908 |
2358 | CD 71 GCG>GTG [Ala>Val] (Hb Ozieri) | Hb Allison Park | HBA1:c.215C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37911 |
4008 | CD 72 CAC>CA- (g.502 (GenBank: MK600512.1)) | N/A | HBA1:c.219delC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37915 |
3312 | CD 72 CAC>CAG [His>Gln] | Hb Madonie | HBA1:c.219C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37915 |
2996 | CD 73 GTG>ATG [Val>Met] | Hb Argenteuil | HBA1:c.220G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37916 |
3326 | CD 73 GTG>G-G | N/A | HBA1:c.221delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37917 |
3759 | CD 74 GAC>AAC [Asp>Asn] | Hb G-Pest | HBA1:c.223G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37919 |
3848 | -α4.2-Q-Thailand | N/A | N/A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37919 |
607 | CD 74 GAC>CAC [Asp>His] (Hb Asabara, Hb G-Taichung, Hb Kurashiki-I, Hb Mahidol) | Hb Q-Thailand | HBA1:c.223G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37919 |
608 | CD 74 GAC>GTC [Asp>Val] | Hb Les Lilas | HBA1:c.224A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37920 |
609 | CD 74 GAC>GGC [Asp>Gly] | Hb Chapel Hill | HBA1:c.224A>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37920 |
3875 | CD 74 GAC>GAG [Asp>Glu] | Hb Jishui | HBA1:c.225C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37921 |
3760 | CD 75 GAC>AAC [Asp>Asn] | Hb Matsue-Oki | HBA1:c.226G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
2503 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA1:c.226G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
2485 | CD 77 CCC>TCC [Pro>Ser] | Hb Nile | HBA1:c.232C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37928 |
2504 | CD 77 CCC>CAC [Pro>His] | Hb Toulon | HBA1:c.233C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37929 |
625 | CD 78 AAC>CAC [Asn>His] | Hb Davenport | HBA1:c.235A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37931 |
386 | CD 78 -C | N/A | HBA1:c.237delC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37933 |
2505 | CD 78 AAC>AAG [Asn>Lys] | Hb Stanleyville-II | HBA1:c.237C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37933 |
3897 | CD 78 AAC>AAA [Asn>Lys] | Hb Qinzhou | HBA1:c.237C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37933 |
4081 | CD 79 GCG>GTG [Ala>Val] | Hb Tangshan | HBA1:c.239C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37935 |
2219 | CD 81 -T | N/A | HBA2:c.244delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37940 |
632 | CD 81 TCC>TGC [Ser>Cys] | Hb Nigeria | HBA1:c.245C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37941 |
387 | CD 82-84 (-9 bp) | N/A | HBA1:c.247_255del | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37943 |
633 | CD 82 GCC>ACC (Ala>Thr) | Hb Hagley Park | HBA1:c.247G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37943 |
2281 | CD 83 CTG>CGG [Leu>Arg] | Hb Ahvaz | HBA2: c.251T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37947 |
637 | CD 84 AGC>AGA [Ser>Arg] | Hb Etobicoke | HBA1:c.255C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37949 |
639 | CD 85 GAC>AAC [Asp>Asn] | Hb G-Norfolk | HBA1:c.256G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37952 |
641 | CD 85 GAC>CAC [Asp>His] | Hb Canuts | HBA1:c.256G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37952 |
2336 | CD 86 CTG>GTG [Leu>Val] | N/A | HBA1:c.259C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37955 |
4098 | CD 86 CTG>CCG [Leu>Pro] | Hb Thessaloniki | HBA1:c.260T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37956 |
2506 | CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai) | Hb M-Iwate | HBA1:c.262C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
647 | CD 87 CAC>GAC [His>Asp] | Hb Bonn | HBA1:c.262C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
649 | CD 87 CAC>CCC [His>Pro] | Hb Grifton | HBA1:c.263A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37959 |
3861 | CD 87 (-A) | N/A | HBA1:c.263delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37959 |
3879 | CD 87 CAC>CTC [His>Leu] | Hb Padma River | HBA1:c.263A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37959 |
3434 | CD 87 CAC>CAG [His>Gln] | Hb Lansing-Ramathibodi | HBA1:c.264C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37960 |
658 | CD 89 CAC>CAG [His>Gln] | Hb Buffalo | HBA1:c.270C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37966 |
3630 | CD 90 AAG>CAG [Lys>Gln] | Hb Luocheng | HBA1:c.271A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37967 |
662 | CD 90 AAG>AGG [Lys>Arg] | Hb Clinico Madrid II | HBA1:c.272A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
663 | CD 90 AAG>ACG | Hb J-Rajappen | HBA1:c.272A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
3756 | CD 90 AAG>AAC [Lys>Asn] | Hb J-Broussais | HBA1:c.273G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37969 |
3993 | CD 90 AAG>AAT [Lys>Asn] | Hb Guigang | HBA1:c.273G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37969 |
665 | CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn) | Hb Vientiane | HBA1:c.274C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37970 |
668 | CD 92 CGG>CAG [Arg>Gln] | Hb J-Cape Town | HBA1:c.278G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37973 |
390 | CD 93-99 (+21 bp) | N/A | HBA1:c.280_300ins21 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37976 |
3852 | CD 93 GTG>ATG [Val>Met] | Hb Qingcheng | HBA1:c.280G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37976 |
672 | CD 93 GTG>GCG [Val>Ala] | Hb Die | HBA1:c.281T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37977 |
2507 | CD 94 GAC>AAC [Asp>Asn] | Hb Titusville | HBA1:c.283G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37979 |
2539 | IVS II-3 (+21bp) | Hb SKMC | HBA1:c.283_300+3dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37979 |
677 | CD 94 GAC>GCC [Asp>Ala] | Hb Bassett | HBA1:c.284A>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37980 |
678 | CD 94 GAC>GGC [Asp>Gly] | Hb Çapa | HBA1:c.284A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37980 |
681 | CD 95 CCG>ACG [Pro>Thr] | Hb Godavari | NM_000558.3(HBA1):c.286C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37982 |
684 | CD 95 CCG>CGG [Pro>Arg] | Hb St. Luke's | HBA1:c.287C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
685 | CD 95 CCG>CAG [Pro>Gln] | Hb Wichita | HBA1:c.287C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
3718 | CD 95 CCG>CTG [Pro>Leu] | Hb Georgia | HBA1:c.287C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
4093 | CD 95 (-C) | Hb Campania | HBA1:c.287delC | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37983 |
2357 | CD 96 GTC>CTC [Val>Leu] | Hb Woodstock | HBA1:c.289G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37985 |
3914 | CD 97 AAC>AGC [Asn>Ser] | Hb Northwood | HBA1:c.293A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37989 |
690 | CD 99 AAG>GAG [Lys>Glu] (Hb Turriff-I) | Hb Turriff | NM_000558.5(HBA1):c.298A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37994 |
2467 | CD 99 AAG>TAG | N/A | HBA1:c.298A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37994 |
691 | CD 99 AAG>AAT [Lys>Asn] (Hb Harlow) | Hb Beziers | HBA1:c.300G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37996 |
3031 | IVS II-1 G>A | N/A | HBA1:c.300+1G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37997 |
3736 | IVS II-55 G>T | N/A | HBA1:c.300+55G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38051 |
3737 | IVS II-58 G>A | N/A | HBA1:c.300+58G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38054 |
4005 | IVS II-96 G>C (g.679 (GenBank MK600512.1)) | N/A | HBA1:c.300+96G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38092 |
4042 | IVS II-2 (-8 bp, +1 bp) | N/A | HBA1:c.301-31_301-24delinsG | α1 | Causative | α-thalassaemia | NG_000006.1 | 38115 |
3738 | IVS II-141 T>C | N/A | HBA1:c.301-9T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38137 |
2222 | IVS II-147 C>G | N/A | HBA1:c.301-3C>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38143 |
393 | IVS II-148 A>G consensus | N/A | HBA1:c.301-2A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38144 |
2303 | CD 100 CTC>TTC (Leu>Phe) | Hb Weesp | HBA1:c.301C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38146 |
2305 | CD 100 CTC>CCC [Leu>Pro] | Hb Corsica | HBA1:c.302T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38147 |
2985 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba IV | HBA1:c.307A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38152 |
693 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba II | HBA1:c.309C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38154 |
695 | CD 103 CAC>TAC [His>Tyr] | Hb Charolles | HBA1:c.310C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
2532 | CD 103 CAC>GAC [His>Asp] | Hb Illinois | HBA1:c.310C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
395 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA1:c.313T>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38158 |
3956 | CD 104 TGC>TAC [Cys>Tyr] | Hb Sallanches | HBA1:c.314G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38159 |
2340 | CD 104 TGC>TGG [Cys>Trp] | Hb Donnington | HBA1:c.315C>G | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38160 |
701 | CD 106 CTG>CCG [Leu>Pro] | Hb Charlieu | HBA1:c.320T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38165 |
2315 | CD 110 GCC>GTC [Ala>Val] (Hb White Rose) | Hb Montluel | HBA1:c.332C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38177 |
2224 | CD 110-114 (-13 bp) | N/A | HBA1:c.333_345delCGCCCACCTCCCC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38178 |
708 | CD 112 CAC>GAC [His>Asp] | Hb Hopkins-II | NM_000558.5(HBA1):c.337C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38182 |
2377 | CD 112 CAC>CAA [His>Gln] | Hb West Allis | HBA1:c.339C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38184 |
2316 | CD 114 CCC>GCC [Pro>Ala] | Hb Broomhill | NM_000558.5(HBA1):c.343C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38188 |
715 | CD 114 CCC>CTC [Pro>Leu] | Hb Nouakchott | NM_000558.3(HBA1):c.344C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38189 |
3378 | CD 114 CCC>CAC [Pro>His] | Hb Hubei | HBA1:c.344C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38189 |
2322 | CD 115 GCC>GTC [Ala>Val] | Hb Palmela | HBA1:c.347C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38192 |
720 | CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere) | Hb O-Indonesia | HBA1:c.349G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
723 | CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar) | Hb Grady | HBA1:c.349_357dup | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
3864 | CD 116 GAG>TAG [Glu>Stop] | N/A | HBA1:c.349G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38194 |
719 | CD 116 GAG>GCG [Glu>Ala] | Hb Ube-4 | HBA1:c.350A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38195 |
724 | CD 117/118 +ATC [+Ile] | Hb Phnom Penh | HBA1:c.354_355insATC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38199 |
3036 | CD 117/118 +TCA [+Ser] | Hb Wexham | HBA1:c.354_355insTCA | α1 | Causative | α-chain variant | NG_000006.1 | 38199 |
406 | CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda) | Hb Groene Hart | HBA1:c.358C>T | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38203 |
726 | CD 119 CCT>CTT [Pro>Leu] | Hb Diamant | HBA1:c.359C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38204 |
2508 | CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham) | Hb J-Meerut | HBA1:c.362C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38207 |
728 | CD 121 GTG>ATG [Val>Met] | Hb Owari | HBA1:c.364G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38209 |
729 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA1:c.367C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
3751 | CD 122 CAC>GAC [His>Asp] | Hb Daxin | HBA1:c.367C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
407 | CD 123 GCC >CCC [Ala>Pro] | Hb Voreppe | HBA1:c.370G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38215 |
733 | CD 123 GCC>TCC [Ala>Ser] | Hb Mulhacen | HBA1:c.370G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38215 |
3016 | CD 123 GCC>GTC [Ala>Val] | Hb Louisa | HBA1:c.371C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38216 |
2984 | CD124 TCC>TGC [Ser>Cys] | Hb Harehills | HBA1:c.374C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38219 |
2414 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze II | HBA1:c.377T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38222 |
738 | CD 126 GAC>CAC [Asp>His] | Hb Sassari | HBA1:c.379G>C | α1 | Causative | α-chain variant | NG_000006.1 | 38224 |
739 | CD 126 GAC>TΑC [Asp>Tyr] | Hb Montefiore | HBA1:c.379G>T | α1, α1 or α2 | Causative | α-chain variant | NG_000006.1 | 38224 |
2408 | CD 126 GAC>GCC [Asp>Ala] | Hb Verdun | HBA1:c.380A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38225 |
743 | CD 126 GAC>GAG [Asp>Glu] | Hb Burlington | HBA1:c.381C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38226 |
3380 | CD 127 AAG>GAG [Lys>Glu] | Hb Shantou | HBA1:c.382A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38227 |
3789 | CD 127 AAG>CAG [Lys>Gln] | Hb Waikato | HBA1:c.382A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38227 |
411 | CD 129 CTG>CCG [Leu>Pro] | Hb Tunis-Bizerte | NM_000558.3(HBA1):c.389T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38234 |
749 | CD 130 GCT>GTT [Ala>Val] | Hb Westborough | HBA1:c.392C>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38237 |
3281 | CD 130 (+T) | Hb Sichuan | HBA1:c.393_394insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38238 |
752 | CD 131 TCT>TTT | Hb Lusaka | HBA1:c.395C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38240 |
416 | CD 131 (+T) >175aa | Hb Pak Num Po | HBA1:c.396dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38241 |
753 | CD 131 TCT>TC- | Hb Fez | HBA1:c.396delT | α1 | Causative | α-chain variant | NG_000006.1 | 38241 |
2323 | CD 132 GTG>ATG [Val>Met] | Hb Portimão | HBA1:c.397G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38242 |
3723 | CD 132 GTG>GCG [Val>Ala] | N/A | HBA1:c.398T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38243 |
4027 | CD 133 AGC>CGC [Ser>Arg] | Hb Val de Marne | HBA2:c.400A>C | α2 | Causative | α-chain variant | NG_000006.1 | 38245 |
4084 | CD 133-135 (-7 bp, -GCACCGT) | N/A | HBA1:c.401_407del | α1 | Causative | α-thalassaemia | NG_000006.1 | 38246 |
760 | CD 134 -C | Hb Senlis | HBA1:c.404delC | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38249 |
762 | CD 135 GTG>CTG [Val>Met] | Hb Trenton | HBA1:c.406G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38251 |
763 | CD 135 GTG>ATG [Val>Glu] | Hb Pavie | HBA1:c.407T>A | HBA2:c.407T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 38252 |
3724 | CD 136 CTG>CAG [Leu>Gln] | N/A | HBA1:c.410T>A | α1 | Causative | α-chain variant | NG_000006.1 | 38255 |
767 | CD 137 ACC>CCC [Thr>Pro] | Hb Verona | HBA1:c.412A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38257 |
3802 | CD 138 TCC>GCC [Ser>Ala] | Hb Paynesville | HBA1:c.415T>G | α1 | Causative | α-chain variant | NG_000006.1 | 38260 |
769 | CD 138 TCC>TGC [Ser>Cys] | Hb Ecuador | HBA1:c.416C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38261 |
771 | CD 139 AAA>GAA [Ala>Glu] | Hb Hanamaki-1 | HBA1:c.418A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38263 |
4017 | CD 139 AAA>TAA [Lys>STOP] (Tenerife) | Hb Nivaria | HBA1:c.418A>T | α1 | Causative | α-chain variant | NG_000006.1 | 38263 |
773 | CD 139 AAA>ACA [Lys>Thr] | Hb Tokoname | NM_000558.5(HBA1):c.419A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38264 |
776 | CD 140 TAC>CAC [Tyr>His] | Hb Ethiopia | NM_000558.5(HBA1):c.421T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38266 |
3972 | CD 140 TAC>TAA [Tyr>STOP] | Hb Natal | HBA1:c.423C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38268 |
779 | CD 141 CGT>GGT [Arg>Gly] | Hb J-Camagüey | NM_000558.3(HBA1):c.424C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38269 |
782 | CD 141 CGT>CTT [Arg>Leu] | Hb Legnano | HBA1:c.425G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38270 |
783 | CD 141 CGT>CAT [Arg>His] | Hb Suresnes | NM_000558.3(HBA1):c.425G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38270 |
3302 | 3'UTR +46 C>A | N/A | HBA1:c.*46C>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38320 |
2225 | Poly A (G>A) AATAAAG>AATAAAA | N/A | HBA1:c.*96G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38370 |
3739 | TTS +23 (+T) | N/A | HBA1:c.*134_*135insT | α1 | Causative | α-thalassaemia | NG_000006.1 | 38408 |
3890 | CD 18 GGC>TGC [Gly>Cys] | Hb Jiujiang | HBA2:c.55G>T | α2 | Causative | α-chain variant | NG_000006.1 | 172967 |
3393 | 3.5 kb deletion (Thai, 3485 bp deletion) | N/A | NC_000011.10:g.5224302_5227791del3490bp | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | |
3435 | Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH) | N/A | N/A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3436 | Yugoslavian non-deletional HPFH | N/A | N/A | Aγ, Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3570 | 1.78Mb εγδβ(0) del (Bedouin) | N/A | NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
3578 | 2.2 Mb deletion | N/A | NC_000011.10:g.4052720_6253287del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
3606 | 177 Kb deletion | N/A | NC_000011.10:g.5241050_5418009del | βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
3955 | Siriraj I Gγ(Aγδβ)0 (~118 kb del) | N/A | N/A | Aγ, δ, β | Causative | δβ-thalassaemia | NG_000007.3 | |
1400 | Hb Lepore-Leiden | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | ||
1404 | (Hb Anti-Lepore Hong Kong) | Hb Hong Kong | NG_000007.3:g.63160_70572dup | δ, β | Causative | δ-chain variant | NG_000007.3 | |
1405 | (Hb Anti-Lepore P-Nilotic) | Hb P-Nilotic | NG_000007.3:g.63461_70874dup | δ, β | Causative | δ-chain variant | NG_000007.3 | |
1525 | Belgian (Aγδβ)0 | N/A | NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | |
1540 | Hispanic (εγδβ)0 | N/A | NC_000011.10:g.5279573_5319355del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | |
1542 | Dutch I (εγδβ)0 | N/A | NC_000011.10:g.5229432_5329263del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
1549 | Dutch IV | N/A | NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del | βLCR, ε, Aγ, Gγ, OR51B5, OR51B6 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
1550 | Dutch V | N/A | NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del | βLCR, OR51B5, OR51B6, OR51M1, OR51B2, OR51B4 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
2159 | (εγδβ)0 with α triplication | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | |
2418 | Swiss (εγδβ)0 | N/A | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
2548 | Inv-Del English V | N/A | NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965 | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | |
1502 | Italian 1 (HPFH-4) | N/A | N/A | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
1503 | Italian 2, Sicilian (HPFH-5) | N/A | NC_000011.10:g.59893_72818del | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
1511 | East European (δβ)0 | N/A | NG_000007.3:g.61566_70708del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1514 | Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 | Turkish Inv/Del (δβ)0) | N/A | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1515 | Turkish (δβ)0 (Turkish type 3 (δβ)0) | N/A | N/A | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1516 | Leiden 7.4 kb (δβ)0 | N/A | NG_000007.3:g.(59658_64667)_(72019_81668)del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1517 | Thai 11.3 (δβ)0 | N/A | NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG | δ, β | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 0 |
1518 | Japanese 2 (δβ)0 | N/A | NG_000007.3:g.52036_78987del | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1519 | Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0) | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1521 | Cantonese (Aγδβ)0 | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1522 | Malaysian-1 (Aγδβ)0 | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1528 | Yunnanese (Aγδβ)0 | N/A | NC_000011.10:g.5182845_5249973del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1531 | Canadian (Aγδβ)0 | N/A | NC_000011.10:g.5196589_5251715delinsTA | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1532 | Leiden 69.5 | N/A | NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1533 | 49.3 kb Gγ(Aγδβ)0 Asian del | N/A | NC_000011.10:g.5201244_5250542del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
1534 | Anglo-Saxon (εγδβ)0 | N/A | NC_000011.8:g.5204501_5300223del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1535 | Irish (εγδβ)0 | N/A | NC_000011.8:g.5110112_5312961del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1536 | Canadian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1537 | Scottish - Irish | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1538 | English I (εγδβ)0 | N/A | N/A | βLCR, ε, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1539 | Mexican (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1541 | Croatian (εγδβ)0 | N/A | NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1543 | English II | N/A | NC_000011.10:g.5262849_5360616del | βLCR, ε | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1544 | English III | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1545 | English IV | N/A | NC_000011.10:g.5156866_5595894del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1546 | Chilean | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1547 | Dutch II | N/A | NC_000011.10:g.(?_4999945)_(5409809_5430440)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1548 | Dutch III | N/A | NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1551 | Dutch VI | N/A | NC_000011.10:g.(?_5227218)_(5373082_5382848)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1552 | Japanese | N/A | NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1553 | French | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2123 | 7719 bp deletion | N/A | NG_000007.3:g.71550_79270del7719 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
2158 | Pakistani I | N/A | NC_000011.10:g.5194461_5700474delins[250inv] | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2161 | French (εγδβ)0 insertion/deletion | N/A | NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv] | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2163 | Norwegian (εγδβ)0 | N/A | NC_000011.10:g.5228098_5358569del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2167 | Asian Indian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2378 | CD 6 GAG>CAG [Glu>Gln] | Hb A2-Ramallah | HBD:c.19G>C | δ | Causative | δ-chain variant | NG_000007.3 | 0 |
2419 | Senegalese δ(0)β(+) | N/A | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 0 |
2497 | 49.98 kb (δβ)0 Indian del (HPFH-9) | N/A | NC_000011.10:g.5194285_5244267del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
2498 | 86.7 kb (Αγδβ)0 Indian del (HPFH-10) | N/A | NC_000011.10:g.5164124_5250830delinsTG | Aγ, δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
2551 | Austrian I | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3073 | Italian (εγδβ)0 deletion | N/A | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] | ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
291 | Czech (4237 bp deletion) | N/A | NG_000007.3:g.67258_71501del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
293 | Cape Verdean | N/A | NG_000007.3:g.71548_79271del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
294 | Asian Indian (10329 bp deletion) | N/A | NG_000007.3:g.(67531_67533)_(77874_77876)del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
295 | Australian (Anglo Saxon) (12023 bp deletion) | N/A | NC_000011.10:g.5215894_5227926del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
299 | Italian (~67 kb deletion) | N/A | N/A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
3340 | Brazilian (εγδβ)0 | N/A | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3390 | βδβ hybrid | Hb Palencia | N/A | δ, β | Causative | β-chain variant | NG_000007.3 | 0 |
3577 | 59 Kb deletion | N/A | NC_000011.10:g.5236469_5295261del | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 2355 |
3935 | 12.4 kb Mediterranean deletion | N/A | NG_000007.3:g.2798_15161delinsAGAGCCCT | βLCR | Causative | β-thalassaemia | NG_000007.3 | 2798 |
2165 | Puerto Rican (εγδβ)0 | N/A | NG_000007.3:g.2904_25432del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 2904 |
3483 | CD 121 GAA>-AA | Hb Mahasarakham | HBB:c.364delG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 6394 |
2566 | Caribbean | N/A | NG_000007.3:g.8510_13369del | βLCR | Causative | β-thalassaemia | NG_000007.3 | 8510 |
3849 | ~72 kb εγδβ(0) del | N/A | NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 9260 |
2164 | Tennessean (εγδβ)0 | N/A | NG_000007.3:g.10054_21931del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 10054 |
2479 | Toledo (1992 bp deletion) | N/A | NG_000007.3:g.11835_13826del | βLCR | Causative | β-thalassaemia | NG_000007.3 | 11835 |
3270 | Chinese I (εγδβ)0 | N/A | NC_000011.10:g.5036736_5270337del | ε, Aγ, Gγ, δ, β, pseudo β, OR51V1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 27279 |
3868 | >35.3 Kb deletion | N/A | NG_000007.3:g.(21655_27675)_(63032_64586)del | ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 27675 |
3869 | >29.5 Kb duplication | N/A | NG_000007.3:g.(27675_41485)_(71150_72080)dup | Aγ, Gγ, δ, β, pseudo β | Causative | β-thalassaemia | NG_000007.3 | 41485 |
1554 | -567 T>G (Iranian non-deletional HPFH) | N/A | HBG2:c.-620T>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42268 |
3272 | -533 (-ATAAG) | N/A | HBG2:c.-533_-529delATAAG | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42302 |
1555 | -202 C>G (Black non-deletional HPFH) | N/A | HBG2:c.-255C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42633 |
3943 | -200 (+CC) | N/A | HBG2:c.-253_-254dup | Gγ | Causative | HPFH | NG_000007.3 | 42634 |
1556 | -200 +C (Tunisian non-deletional HPFH) | N/A | HBG2:c.-253dup | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42635 |
2300 | -197 C>T | N/A | HBG2:c.-250c>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42638 |
1557 | -196 C>T (Greek non-deletional HPFH) | N/A | HBG2:c.-249C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42639 |
1558 | -175 T>C (Black/Sardinian/British non-deletional HPFH) | N/A | HBG2:c.-228T>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42660 |
3790 | -125 C>T | N/A | HBG2:c.-177C>T | Gγ | Causative | HPFH | NG_000007.3 | 42710 |
1559 | -114 C>G (Australian non-deletional HPFH) | N/A | HBG2:c.-167C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1560 | -114 C>A (Algerian non-deletional HPFH) | N/A | HBG2:c.-167C>A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1561 | -114 C>T (Japanese non-deletional HPFH) | N/A | HBG2:c.-167C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1562 | -110 A>C (Czech non-deletional HPFH) | N/A | HBG2:c.-163A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42725 |
1563 | -109 G>T (Greek non-deletional HPFH) | N/A | HBG2:c.-162A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42726 |
1564 | -37 A>T (Belgian non-deletional HPFH) | N/A | HBG2:c.-90A>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42798 |
1406 | CD 1 GGT>TGT | Hb F-Malaysia | HBG2:c.4G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
2449 | CD 1 GGT>AGT [Gly>Ser] | Hb F-Montchat | HBG2:c.4G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
3319 | CD 1 GGT>GAT [Gly>Asp] | Hb F-Hayward | HBG2:c.5G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42892 |
1407 | CD 5 GAG>GGG | Hb F-Meinohama | HBG2:c.17A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42904 |
1409 | CD 7 GAC>AAC | Hb F-Auckland | HBG2:c.22G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42909 |
1410 | CD 8 AAG>CAG or GAG | Hb F-Albaicin | HBG2:c.25A>C | HBG2:c.25A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42912 |
1412 | CD 12 ACA>AGA [Thr>Arg] | Hb F-Heather | HBG2:c.38C>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42925 |
3804 | CD 13 AGC>AGA [Ser>Arg] | Hb F-Millennium Park | HBG2:c.42C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42929 |
1413 | CD 15 TGG>CGG | Hb F-Catalonia | HBG2:c.46T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42933 |
1414 | CD 16 GGC>CGC | Hb F-Melbourne | HBG2:c.49G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42936 |
1415 | CD 17 AAG>AAC or AAT | Hb F-Clamart | HBG2:c.54G>C | HBG2:c.54G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42941 |
2149 | N/A (Hb Gγ-β Ulsan) | Hb Ulsan | NG_000007.3:g.42946_70654del | Aγ, Gγ, δ, β, pseudo β | Causative | β-chain variant | NG_000007.3 | 42946 |
1416 | CD 19 AAT>AAA or AAG | Hb F-Ouled Rabah | HBG2:c.60T>A | HBG2:c.60T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42947 |
1417 | CD 20 GTG>GCG | Hb F-Bron | HBG2:c.62T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42949 |
1418 | CD 21 GAA>AAA | Hb F-Saskatoon | HBG2:c.64G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
1419 | CD 21 GAA>CAA | Hb F-Fuchu | HBG2:c.64G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
4099 | CD 22 GAT>CAT [Asp>His] | Hb F-Nancy | HBG2:c.67G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42954 |
1420 | CD 22 GAT>GTT | Hb F-Granada | HBG2:c.68A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
1421 | CD 22 GAT>GGT | Hb F-Urumqi | HBG2:c.68A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
3566 | CD 24 GGA>GAA [Gly>Glu] | Hb F-Wentzville | HBG2:c.74G>A | Gγ | Causative | γ-chain variant, Haemolytic anaemia | NG_000007.3 | 42961 |
1422 | CD 25 GGA>GAA | Hb F-Cosenza | HBG2:c.77G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42964 |
1423 | CD 26 GAA>AAA | Hb F-Oakland | HBG2:c.79G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42966 |
3322 | CD 28 CTG>ATG [Leu>Met] | Hb F-M Viseu | HBG2:c.85C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42972 |
1424 | CD 34 GTC>ATC | Hb F-Tokyo | HBG2:c.103G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43112 |
2428 | CD 37 TGG>GGG [Trp>Gly] | Hb F-Cobb II | HBG2:c.112T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43121 |
1425 | CD 38 ACC>CCC | Hb F-Bonheiden | HBG2:c.115A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43124 |
1426 | CD 40 AGG>GGG | Hb F-Veleta | HBG2:c.121A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43130 |
1427 | CD 40 AGG>AAG | Hb F-Austell | HBG2:c.122G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43131 |
2427 | CD 41 TTC>CTC [Phe>Leu] | Hb F-Avellino | HBG2:c.124T>C | Gγ | Causative | γ-chain variant, Hb F levels | NG_000007.3 | 43133 |
1428 | CD 41 TTC>TCC | Hb F-Cincinnati | HBG2:c.125T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43134 |
1429 | CD 44 AGC>CGC | Hb F-Lodz | HBG2:c.133A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43142 |
3608 | CD 50 (TCT>TGT);CD 75(ATA>ACA) | Hb F-Madrid | HBG2:c.[152C>G;227T>C] | Gγ | Causative | γ-chain variant | NG_000007.3 | 43161 |
1430 | CD 55 ATG>AGG | Hb F-Kingston | HBG2:c.167T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43176 |
1431 | CD 59 AAA>CAA | Hb F-Sacromonte | HBG2:c.178A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
1432 | CD 59 AAA>GAA | Hb F-Emirates | HBG2:c.178A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
2552 | CD 59 AAA>AGA [Lys>Arg] | Hb F-Augusta GA | HBG2:c.179A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43188 |
1433 | CD 63 CAT>TAT | Hb F-M-Osaka | HBG2:c.190C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43199 |
3369 | CD 63 CAT>CTT [His>Leu] | Hb F-Circleville | HBG2:c.191A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43200 |
2471 | CD 64 GGC>GAC [Gly>Asp] | Hb F-Turritana | HBG2:c.194G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43203 |
1434 | CD 65 AAG>AAT or AAC | Hb F-Clarke | HBG2:c.198G>C | HBG2:c.198G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43207 |
1435 | CD 66 AAG>CAG | Hb F-Brooklyn | HBG2:c.199A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43208 |
1436 | CD 66 AAG>AGG | Hb F-Shanghai | HBG2:c.200A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43209 |
2435 | CD 67 GTG>ATG [Val>Met] (Hb F-Heuried) | Hb Toms River | HBG2:c.202G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43211 |
1437 | CD 72 GGA>CGA | Hb F-Minoo | HBG2:c.217G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43226 |
1438 | CD 73 GAT>GCT | Hb F-Joanopolis | HBG2:c.221A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43230 |
1439 | CD 75 ATA>GTA | Hb F-Coigneres | HBG2:c.226A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43235 |
1440 | CD 75 ATA>ACA | Hb F-Lesvos | HBG2:c.227T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43236 |
1441 | CD 77 CAC>CGC | Hb F-Kennestone | HBG2:c.233A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43242 |
1442 | CD 79 GAT>CAT [Asp>His] | Hb F-Saint-Etienne | HBG2:c.238G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43247 |
3803 | CD 79 GAT>GGT [Asp>Gly] | Hb F-Northerly Island | HBG2:c.239A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43248 |
1443 | CD 80 GAT>AAT | Hb F-Marietta | HBG2:c.241G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
1444 | CD 80 GAT>TAT [Asp>Tyr] | Hb F-Paulinia | HBG2:c.241G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
3389 | CD 89 AGT>AAT [Ser>Asn] | Hb F-Careggi | HBG2:c.269G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43278 |
1445 | CD 92 CAC>TAC | Hb F-M-Fort Ripley | HBG2:c.277C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43286 |
2395 | CD 93 TGT>CGT [Cys>Arg] | Hb F-Monserrato-Sassari | HBG2:c.280T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43289 |
1446 | CD 94 GAC>AAC | Hb F-Columbus-GA | HBG2:c.283G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43292 |
1447 | CD 97 CAT>CGT [His>Arg] | Hb F-Lyon | HBG2:c.293A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43302 |
1448 | CD 101 GAG>CAG [Glu>Gln] | Hb F-Zheijang | HBG2:c.304G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
1449 | CD 101 GAG>AAG | Hb F-La Grange | HBG2:c.304G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
1450 | CD 102 AAC>ACC [Asn>Thr] | Hb F-Sarajevo | HBG2:c.308A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43317 |
1451 | CD 104 AAG>AAC | Hb F-Macedonia-II | HBG2:c.315G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43324 |
2459 | CD 105 CTC>CAC [Leu>His] | Hb F-Brugine/Feldkirch | HBG2:c.317T>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43326 |
3835 | 78.9 kb Gγ(Aγδβ)0 del | N/A | NC_000011.10:g.5169895_5248821delins5216274_5216309 | Aγ, δ, β, pseudo β, OR52Z1-OR51V1 | Causative | δβ-thalassaemia | NG_000007.3 | 43875 |
1452 | CD 108 AAT>AAA [Asn>Lys] | Hb F-Ube | HBG1:c.327T>A | HBG2:c.327T>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 44222, 49140 |
1453 | CD 117 CAT>CGT | Hb F-Malta-I | HBG2:c.353A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44248 |
1454 | CD 118 TTC>CTC | Hb F-Calabria | HBG2:c.355T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44250 |
3891 | CD 119 GGC>CGC [Gly>Arg] | Hb F-Pill Hill | HBG2:c.358G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44253 |
1455 | CD 120 AAA>CAA | Hb F-Caltech | HBG2:c.361A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44256 |
1456 | CD 121 GAA>AAA | Hb F-Carlton | HBG2:c.364G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44259 |
1457 | CD 125 GAG>GCG | Hb F-Port Royal | HBG2:c.377A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44272 |
1458 | CD 130 TGG>GGG | Hb F-Poole | HBG2:c.391T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44286 |
2450 | CD 136 GGA>GAA [Gly>Glu] | Hb F-Privas | HBG2:c.410G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44305 |
3950 | CD 140 GCC>GAC [Ala>Asp] | Hb F-Wyandotte | HBG2:c.422C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44317 |
1459 | CD 146 CAC>TAC | Hb F-Onoda | HBG2:c.439C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 44334 |
2394 | CD 146 CAC>CGC [His>Arg] | Hb F-Istambul | HBG2:c.440A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44335 |
1524 | Turkish (Aγδβ)0 | N/A | NG_000007.3:g.45410_81665del36256 | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 45410 |
1504 | SE Asian, Thai (Aγδβ)0 (HPFH-6) | N/A | NC_000011.10:g.5172745_5252029 | Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1 | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 45587 |
1520 | German (Aγδβ)0 | N/A | NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 45922 |
1523 | Malaysian-2 (Aγδβ)0 | N/A | NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 47376 |
3920 | -368 C>A | N/A | HBG1:c.-420C>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47391 |
3865 | -219 (+AGCA) | N/A | HBG1:c.-272_-275dup | Aγ | Causative | HPFH | NG_000007.3 | 47537 |
1565 | -211 C>T (Venezuelan non-deletional HPFH) | N/A | HBG1:c.-264C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47548 |
1566 | -202 C>T (Black non-deletional HPFH) | N/A | HBG1:c.-255C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47557 |
1567 | -201 C>T (Greek non-deletional HPFH) | N/A | HBG1:c.-254C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47558 |
1568 | -198 T>C (British non-deletional HPFH) | N/A | HBG1:c.-251T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47561 |
2301 | -197 C>T | N/A | HBG1:c.-250C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47562 |
1569 | -196 C>T (Italian/Chinese non-deletional HPFH) | N/A | HBG1:c.-249C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47563 |
1570 | -195 C>G (Brazilian non-deletional HPFH) | N/A | HBG1:c.-248C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47564 |
1571 | -175 T>C (Black non-deletional HPFH) | N/A | HBG1:c.-228T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47584 |
1572 | -158 C>T (Cretan non-deletional HPFH) | N/A | HBG1:c.-211C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47601 |
1573 | -117 G>A (Greek/Italian/Black non-deletional HPFH) | N/A | HBG1:c.-170G>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47642 |
1574 | -114 to -102 (13 bp deletion , Black non-deletional HPFH) | N/A | HBG1:c.-167_-155delCAATAGCCTTGAC | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
1575 | -114 C>T (Georgian non-deletional HPFH) | N/A | HBG1:c.-167C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
3025 | -114 C>G (African-American/Hispanic non-deletional HPFH) | N/A | HBG1:c.-167C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
2302 | -113 A>G | N/A | HBG1:c.-166A>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47646 |
1460 | CD 2 CAT>CAG | Hb F-Macedonia-I | HBG1:c.9T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47820 |
1461 | CD 5 GAG>AAG | Hb F-Texas-I | HBG1:c.16G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47827 |
1408 | CD 6 GAG>AAG | Hb F-Texas-II | HBG1:c.19G>A | HBG2:c.19G>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 47830 |
1462 | CD 6 GAG>CAG | Hb F-Pordenone | HBG1:c.19G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 47830 |
1463 | CD 6 GAG>GGG | Hb F-Kotobuki | HBG1:c.20A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47831 |
1411 | CD 12 ACA>AAA [Thr>Lys] | Hb F-Alexandra | HBG1:c.38C>A | HBG2:c.38C>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 47849 |
1464 | CD 12 ACA>AGA | Hb F-Calluna | HBG1:c.38C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47849 |
3320 | CD 16 GGC>GAC [Gly>Asp] | Hb F-Chori-I | HBG1:c.50G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47861 |
1465 | CD 22 GAT>AAT [Asp>Asn] | Hb F-Beni Khirane | HBG1:c.67G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47878 |
1466 | CD 22 GAT>GGT | Hb F-Kuala Lumpur | HBG1:c.68A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47879 |
1467 | CD 23 (-GCT) | Hb F-Mauritius | HBG1:c.70_72del | Aγ | Causative | γ-chain variant | NG_000007.3 | 47881 |
1468 | CD 25 GGA>CGA | Hb F-Xinjiang | HBG1:c.76G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 47887 |
3321 | CD 29 GGA>GAA [Gly>Glu] | Hb F-Chori-II | HBG1:c.89G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47900 |
1469 | CD 36 CCA>CGA | Hb F-Pendergrass | HBG1:c.110C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48043 |
1470 | CD 37 TGG>GGG | Hb F-Cobb | HBG1:c.112T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48045 |
1471 | CD 39 CAG>CGG | Hb F-Bonaire-GA | HBG1:c.119A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48052 |
1472 | CD 40 AGG>AAG | Hb F-Woodstock | HBG1:c.122G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48055 |
1473 | CD 43 GAC>AAC | Hb F-Fukuyama | HBG1:c.130G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48063 |
1474 | CD 53 GCC>GAC | Hb F-Beech Island | HBG1:c.161C>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48094 |
1530 | Italian (Aγδβ)0 | N/A | NC_000011.10:g.5194458_5249516del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 48100 |
1475 | CD 61 AAG>GAG | Hb F-Jamaica | HBG1:c.184A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48117 |
3917 | CD 67 GTG>ATG [Val>Met] | Hb Toms River | HBG1:c.202G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48135 |
1476 | CD 72 GGA>CGA | Hb F-Iwata | HBG1:c.217G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48150 |
1477 | CD 73 GAT>CAT | Hb F-Xin-Su | HBG1:c.220G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48153 |
1478 | CD 73 GAT>AAT | Hb F-Forest Park | HBG1:c.220G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48153 |
1479 | CD 75 ATA>ACA | Hb F-Sardinia (AgammaT) | HBG1:c.227T>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48160 |
1480 | CD 79 GAT>AAT | Hb F-Dammam | HBG1:c.238G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48171 |
1481 | CD 80 GAT>AAT | Hb F-Yamaguchi | HBG1:c.241G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48174 |
1482 | CD 80 GAT>TAT [Asp>Tyr] | Hb F-Victoria Jubilee | HBG1:c.241G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 48174 |
1498 | (HPFH-7, Kenya) | Hb Kenya | NG_000007.3:g.48194_70985del | Aγ, δ, β, pseudo β | Causative | β-chain variant, Hb F levels | NG_000007.3 | 48194 |
2415 | CD 91 CTG>CGG [Leu>Arg] | Hb F-Moyen-Orient | HBG1:c.275T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48208 |
1483 | CD 97 CAT>CGT | Hb F-Dickinson | HBG1:c.293A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48226 |
1527 | Chinese (Aγδβ)0 | N/A | NC_000011.10:g.5169918_5248821del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 48795 |
1526 | Black (Aγδβ)0 | N/A | NC_000011.10:g.5212727_5248576del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 49040 |
2556 | CD 113 GTT>ATT [Val>Ile] | Hb F-Sykesville MD | HBG1:c.340G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49153 |
1484 | CD 119 GGC>AGC [Gly>Ser] | Hb F-Osilo | HBG1:c.358G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49171 |
1485 | CD 121 GAA>AAA [Glu>Lys] (Hb F-Siena) | Hb F-Hull | HBG1:c.364G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49177 |
1487 | CD 121 GAA>CAA | Hb F-Campinas | HBG1:c.364G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 49177 |
2396 | CD 121 GAA>GTA [Glu>Val] | Hb F-Salamanque | HBG1:c.365A>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49178 |
2453 | CD 125 GAG>GCG [Glu>Ala] | Hb F-Port Royal II | HBG1:c.377A>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 49190 |
1488 | CD 128 GCT>ACT | Hb F-Baskent | HBG1:c.385G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49198 |
1489 | CD 131 CAG>CAT [Gln>His] | Hb F-Oman | HBG1:c.396G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49209 |
1490 | CD 134 GTG>ATG | Hb F-Jiangsu | HBG1:c.403G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49216 |
1491 | CD 136 GCA>TCA | Hb F-Porto Torres | HBG1:c.409G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49222 |
1492 | CD 136 GCA>GGA | Hb F-Charlotte | HBG1:c.410C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 49223 |
3892 | CD 139 AGT>AGG [Ser>Arg] | Hb F-Streeterville | HBG1:c.420T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 49233 |
1506 | Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del) | N/A | NC_000011.10:g.5214461_5247124del | δ, β, pseudo β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 50492 |
1508 | Japanese (δβ)0 | N/A | NC_000011.10:g.5132468_5246133del | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 51483 |
1501 | Indian HPFH-3 | N/A | NC_000011.10:g.5194459_5244226del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 53390 |
1500 | Ghanaian (HPFH-2) | N/A | NC_000011.10:g.5158438_5242749del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 54867 |
2156 | Algerian HPFH deletion | N/A | NG_000007.3:g.57141_81002del; 81008delA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57141, 81008 |
2155 | French West-Indies deletion/insertion (French West-Indies HPFH deletion) | N/A | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57155 |
1497 | Corfu (δ)0 (7.2kb Corfu deletion) | N/A | NG_000007.3:g.57237_64443del7207 | δ | Causative | δ-thalassaemia | NG_000007.3 | 57237 |
110 | IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0) | N/A | NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 57237, 70691 |
3971 | Tunisian (δβ)0 | N/A | NG_000007.3:g.58253_72837del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 58253 |
1499 | Black (HPFH-1) | N/A | NC_000011.10:g.5153222_5238138delinsAAATA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 59478 |
1509 | Spanish (δβ)0 | N/A | NG_000011.10:g.5144331_5237241del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 60375 |
1510 | Black (δβ)0 | N/A | NG_000007.3:g.(60530_60730)_(72351_72551)del11822 | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 60530 |
2154 | French deletion/insertion (French HPFH deletion) | N/A | NG_000007.3:g.[61399_61400insC; 61402_81144del] | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 61402 |
3601 | -130 A>G | N/A | HBD:c.-180A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63003 |
3223 | CAP +48 (A>T) | N/A | HBD:c.-6A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63019 |
2202 | CAP +53 (G>A) | N/A | HBD:c.-1G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63024 |
1321 | -80 (G>A) | N/A | HBD:c.-130G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63053 |
1322 | -77 T>C | N/A | HBD:c.-127T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63056 |
1323 | -76 (A>T) | N/A | HBD:c.-126A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63057 |
1324 | -68 (C>T) | N/A | HBD:c.-118C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63065 |
1325 | -65 (A>G) | N/A | HBD:c.-115A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63068 |
1326 | -55 (T>C) | N/A | HBD:c.-105T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63078 |
3602 | -44 G>A | N/A | HBD:c.-94G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63089 |
1327 | -36 (C>A) | N/A | HBD:c.-86C>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63097 |
4096 | Hb Anti-Lepore Laibin | Hb Anti-Lepore Laibin | NG_000007.3:g.63100_70511dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63100 |
1328 | -31 (A>G) | N/A | HBD:c.-81A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63102 |
1329 | -30 T>C | N/A | HBD:c.-80T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63103 |
3792 | N/A | Hb Lepore-Hong Kong | NG_000007.3:g.63154_70565del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 63154 |
3964 | Hb Anti-Lepore Liuzhou | N/A | NG_000007.3:g.63154_70565dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63154 |
1330 | Init CD ATG>ATA [Met>Ile] | N/A | HBD:c.3G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63185 |
1347 | CD 1 GTG>GCG | Hb A2-Niigata | HBD:c.5T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63187 |
2328 | CD 2 CAT>AAT [His>Asn] | Hb A2-Calderdale | HBD:c.7C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63189 |
1348 | CD 2 CAT>CTT | Hb A2-Catania | HBD:c.8A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63190 |
1349 | CD 2 CAT>CGT | Hb A2-Sphakiá | HBD:c.8A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63190 |
3307 | N/A | Hb Lepore Rochester-MN | NG_000007.3:g.[63191_70603dup;63291_70703del] | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63191 |
3366 | CD 3 CTG>CCG [Leu>Pro] | Hb A2-Sile | HBD:c.11T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63193 |
1331 | CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero) | N/A | HBD:c.14C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63196 |
1350 | CD 4 ACT>AGT [Thr>Ser] | Hb A2-Acacias | HBD:c.14C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63196 |
3617 | CD 5 CCT>ACT [Pro>Thr] | Hb A2-Partinico | HBD:c.16C>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63198 |
3336 | CD 7 GAG>TAG [Glu>STOP] | N/A | HBD:c.22G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63204 |
4035 | CD 7 GAG>AAG [Glu>Lys] | Hb A2-Zhengzhou | HBD:c.22G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63204 |
3231 | CD 7 (-3bp): (-GAG) | N/A | HBD:c.22_24delGAG | δ | Causative | δ-thalassaemia | NG_000007.3 | 63204 |
1351 | CD 7 GAG>GCG [Glu>Ala] | Hb A2-Udine | HBD:c.23A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63205 |
2325 | CD 7 GAG>GAC [Glu>Asp] | Hb A2-Pordenone | HBD:c.24G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63206 |
1352 | CD 8 AAG>GAG [Lys>Glu] | Hb A2-Toranomon | HBD:c.25A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63207 |
4030 | CD 8 AAG>AAC [Lys>Asn] | Hb A2-Hengyang | HBD:c.27G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63209 |
3232 | CD 10 GCT>-CT | N/A | HBD:c.31delG | δ | Causative | δ-thalassaemia | NG_000007.3 | 63213 |
3243 | CD 10 GCT>CCT [Ala>Pro] | Hb A2-Guangzhou | HBD:c.31G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63213 |
3496 | CD 10 GCT>GTT [Ala>Val] | Hb A2-Canakkale | HBD:c.32C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63214 |
1353 | CD 11 GTC>GGC | Hb A2-Pylos | HBD:c.35T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63217 |
2299 | CD 12 AAT>ACT (Asn>Thr) | Hb A2-Rotterdam | HBD:c.38A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63220 |
1354 | CD 12 AAT>AAA [Asn>Lys] | Hb A2-NYU | HBD:c.39T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63221 |
1355 | CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone) | Hb A2-MUMC | HBD:c.41C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63223 |
2448 | CD 14 CTG>CCG [Leu>Pro] | Hb A2-Saint-Etienne | HBD:c.44T>C | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63226 |
3628 | CD 15 TGG>CGG [Trp>Arg] | Hb A2-Utah | HBD:c.46T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63228 |
3372 | CD 15 TGG>TTG [Trp>Leu] | Hb A2-Stockholm | HBD:c.47G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63229 |
1356 | CD 16 GGC>CGC | Hb A2' or Hb B2 | HBD:c.49G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63231 |
4097 | CD 17 AAA>CAA [Lys>Gln] | Hb A2-Laibin | HBD:c.52A>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63234 |
3242 | CD 17 AAA>ACA [Lys>Thr] | Hb A2-Qingyuan | HBD:c.53A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63235 |
4039 | CD 18 GTG>GGG [Val>Gly] | Hb A2-Siping | HBD:c.56T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63238 |
2292 | CD 19 AAC>AAA [Asn>Lys] | Hb Famagusta | HBD:c.60C>A | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63242 |
1357 | CD 20 GTG>GAG | Hb A2-Roosevelt | HBD:c.62T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63244 |
3241 | CD 21 GAT>GGT [Asp>Gly] | Hb A2-Dongguan | HBD:c.65A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63247 |
1396 | (δβδ hybrid) | Hb Parchman | NG_000007.3:g.[63249_70661del;63571_70985dup] | δ, β | Causative | δ-chain variant | NG_000007.3 | 63249 |
1401 | (Hb Anti-Lepore Miyada) | Hb Miyada | NG_000007.3:g.63249_70661dup | δ, β | Causative | N/A | NG_000007.3 | 63249 |
2447 | CD 22 GCA>ACA>AAA [Ala>Lys] | Hb A2-Marseille | HBD:c.[67G>A; 68C>A] | δ | Causative | δ-chain variant | NG_000007.3 | 63249 |
1358 | CD 22 GCA>GAA [Ala>Glu] | Hb A2-Flatbush | HBD:c.68C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63250 |
1359 | CD 24 GGT>GAT | Hb A2-Victoria | HBD:c.74G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63256 |
1360 | CD 25 GGT>GAT | Hb A2-Yokoshima | HBD:c.77G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63259 |
1361 | CD 26 GAG>GAC | Hb A2-Puglia | HBD:c.81G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63263 |
1332 | CD 27 GCC>TCC [Ala>Ser] | Hb A2-Yialousa | HBD:c.82G>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63264 |
3240 | CD 28 CTG>CCG [Leu>Pro] | Hb A2-Hunan | HBD:c.86T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63268 |
2437 | CD 29 GGC>GAC [Gly>Asp] | Hb A2-Hong Kong | HBD:c.89G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63271 |
3960 | CD 29 GGC>GGT [Gly>Gly] | N/A | HBD:c.90C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63272 |
1333 | CD 30 (AGG>ACG) | N/A | HBD:c.92G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63274 |
3883 | IVS I-1 G>C | N/A | HBD:c.92+1G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63275 |
1334 | IVS I-2 (T>C) | N/A | HBD:c.92+2T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63276 |
2090 | IVS I-5 G>T | N/A | HBD:c.92+5G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63279 |
1397 | Hb Lepore-Hollandia | NG_000007.3:g.63290_70702del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63290 | |
2563 | IVS I-1 (27 bp insertion) | N/A | HBD:c.92+83_84ins27 | δ | Causative | δ-thalassaemia | NG_000007.3 | 63357 |
3233 | IVS I 3' AG>-C | N/A | HBD:c.93-2delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63401 |
1335 | IVS I-128 G>C (IVS I 3' AG>AC) | N/A | HBD:c.93-1G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63402 |
1363 | CD 36 CCT>CAT | Hb A2-Metaponto | HBD:c.110C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63420 |
3387 | CD 36 CCT>CGT [Pro>Arg] | Hb A2-Sanremo | HBD:c.110C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63420 |
1336 | CD 37 (TGG>TAG) | N/A | HBD:c.113G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63423 |
4029 | CD 39 CAG>AAG [Gln>Lys] | Hb A2-Chengdu | HBD:c.118C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63428 |
2320 | CD 39 CAG>CAC [Gln>His] | Hb A2-Lyon | HBD:c.120G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63430 |
4037 | CD 40 AGG>AGT [Arg>Ser] | Hb A2-Wuhan | HBD:c.123G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63433 |
3239 | CD 42 TTT>CTT [Phe>Leu] | Hb A2-Huadu | HBD:c.127T>C | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63437 |
1364 | CD 43 GAG>AAG | Hb A2-Melbourne | HBD:c.130G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63440 |
1365 | CD 43 GAG>GGG | Hb A2-Agrinio | HBD:c.131A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63441 |
3238 | CD 44 TCC>TGC [Ser>Cys] | Hb A2-Conghua | HBD:c.134C>G | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63444 |
3806 | CD 44-48 (-CTTTGGGGATC) (p.Phe46Valfs*4) | N/A | HBD:c.135_145del | δ | Causative | δ-thalassaemia | NG_000007.3 | 63445 |
4026 | CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G | Hb A2-Malay | HBD:c.[139G>C;316-443A>G] | δ | Causative | δ-thalassaemia | NG_000007.3 | 63449, 64081 |
4069 | CD 46 GGG>AGG [Gly>Arg] | Hb A2-Yulin | HBD:c.139G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63449 |
2425 | CD 46 GGG>GAG [Gly>Glu] | Hb A2-Tunis | HBD:c.140G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63450 |
3317 | CD 47 GAT>AAT [Asp>Asn] | Hb A2-Lampang | HBD:c.142G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63452 |
1366 | CD 47 GAT>GTT | Hb A2-Parkville | HBD:c.143A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63453 |
2426 | CD 50 TCT>ACT [Ser>Thr] | Hb A2-Konz | HBD:c.151T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63461 |
1367 | CD 51 CCT>CGT | Hb A2-Adria | HBD:c.155C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63465 |
2329 | CD 52 GAT>CAT [Asp>His] | Hb A2-Walsgrave | HBD:c.157G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63467 |
3316 | CD 53 GCT>CCT [Ala>Pro] | Hb A2-Edirne | HBD:c.160G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63470 |
3315 | CD 56 GGC>GAC [Gly>Asp] | Hb A2-Shah Alam | HBD:c.170G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63480 |
1368 | CD 57 AAC>AAA | Hb A2-Campania | HBD:c.174C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63484 |
2575 | CD 58 +C | N/A | HBD:c.176_177insC | δ | Causative | δ-thalassaemia | NG_000007.3 | 63486 |
1369 | CD 59 AAG>ATG [Lys>Met] | Hb A2-North Africa | HBD:c.179A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63489 |
3441 | CD 59 AAG>A-G (δ0 59 (-A)) | N/A | HBD:c.179delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63489 |
1370 | CD 59 AAG>AAC | Hb A2-Pasteur-Tunis | HBD:c.180G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63490 |
3237 | CD 59/60 (+GG) | N/A | HBD:c.180_181dup | δ | Causative | δ-thalassaemia | NG_000007.3 | 63490 |
3870 | CD 62 GCT>CCT [Ala>Pro] | N/A | HBD:c.187G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63497 |
1371 | CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo) | Hb A2-Fogo | HBD:c.193G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63503 |
4036 | CD 65 AAG>ATG [Lys>Met] | Hb A2-Zhaoqing | HBD:c.197A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63507 |
3495 | CD 65 AAG>AAT [Lys>Asn] | Hb A2-Yunnan | HBD:c.198G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63508 |
4109 | N/A | Hb Lepore-Quanzhou | NG_000007.3:g.63511_70924del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63511 |
2573 | CD 67 GTG>ATG [Val>Met] | Hb A2-Deventer | HBD:c.202G>A | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63512 |
1372 | CD 69 GGT>CGT | Hb A2-Indonesia | HBD:c.208G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63518 |
3406 | CD 69 GGT>GAT [Gly>Asp] | Hb A2-Gebenstorf | HBD:c.209G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63519 |
1373 | CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.) | Hb A2-Ventimiglia | HBD:c.212C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63522 |
3335 | CD 73 GAT>GTT [Asp>Val] | Hb A2-Henan | HBD:c.221A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63531 |
2324 | CD 74 GGC>GAC [Gly>Asp] | Hb A2-Asti | HBD:c.224G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63534 |
1374 | CD 75 CTG>GTG | Hb A2-Grovetown | HBD:c.226C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63536 |
4092 | CD 76 GCT>GAT [Ala>Asp] | Hb A2-Moyen-Orient | HBD:c.230C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63540 |
3256 | CD 77 CAC>CGC [His>Arg] | Hb A2-Kiriwong | HBD:c.233A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63543 |
4091 | CD 79 GAC>AAC [Asp>Asn] | Hb A2-Guangxi | HBD:c.238G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63548 |
2477 | CD 79 GAC>GGC [Asp>Gly] | Hb A2-Turkish | HBD:c.239A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63549 |
4032 | CD 80 AAC>AAA [Asn>Lys] | Hb A2-Lishui | HBD:c.243C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63552 |
2309 | CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis) | Hb A2-St. George's | HBD:c.244C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63554 |
2092 | CD 82 AAG>TAG | N/A | NG_000007.3:g.63557A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63557 |
3992 | CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met] | Hb A2-Roi-Et | HBD:c.[249G>T;400G>A] | δ | Causative | δ-chain variant | NG_000007.3 | 63559, 64608 |
1375 | CD 83 GGC>GAC [Gly>Asp] | Hb A2-Nishishinbashi | HBD:c.251G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63561 |
1398 | Hb Lepore-Baltimore | NG_000007.3:g.63564_70978del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63564 | |
1376 | CD 85 TTT>TCT | Hb A2-Etolia | HBD:c.257T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63567 |
1377 | CD 87 CAG>AAG | Hb A2-Montechiaro | HBD:c.262C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63572 |
3844 | CD 87 CAG>TAG [Gln>STOP] | N/A | HBD:c.262C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63572 |
4016 | CD 87 CAG>CGG [Gln>Arg] | Hb A2-Cremona | HBD:c.263A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63573 |
3236 | CD 87 CAG>C-G | N/A | HBD:c.263delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63573 |
1378 | CD 88 CTG>GTG | Hb A2-Lucania | HBD:c.265C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63575 |
3547 | CD 89 AGT>AAT [Ser>Asn] | Hb A2-Pistoia | HBD:c.269G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63579 |
2476 | CD 90 GAG>AAG [Glu>Lys] | Hb A2-Canebière | HBD:c.271G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63581 |
1379 | CD 90 GAG>GTG [Glu>Val] | Hb A2-Honai | HBD:c.272A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63582 |
2354 | CD 90 GAG>GGG [Glu>Gly] | Hb A2-India | HBD:c.272A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63582 |
1338 | CD 91 (+T) | N/A | HBD:c.275dupT | δ | Causative | δ-thalassaemia | NG_000007.3 | 63585 |
3383 | CD 91 CTG>CCG [Leu>Pro] | Hb A2-Courbevoie | HBD:c.275T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63585 |
1380 | CD 93 TGT>GGT | Hb A2-Sant' Antioco | HBD:c.280T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63590 |
3598 | CD 93/94 (-TG) [Cys>STOP] | N/A | HBD:c.282_283delTG | δ | Causative | N/A | NG_000007.3 | 63592 |
4013 | CD 93 TGT>TGG [Cys>Trp] | Hb A2-Pontedera | HBD:c.282T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63592 |
4031 | CD 96 CTG>CGG [Leu>Arg] | Hb A2-Hubei | HBD:C.290T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63600 |
3222 | CD 97 CAC>CGC [His>Arg] | Hb A2-Merchang | HBD:c.293A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63603 |
1339 | CD 98 (GTG>ATG) | Hb A2-Wrens | HBD:c.295G>A | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63605 |
3975 | CD 98 (-GTG, +A) | N/A | HBD:c.295_297delGTGinsA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63605 |
1382 | CD 99 GAT>AAT | Hb A2-Canada | HBD:c.298G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63608 |
4038 | CD 99 GAT>GGT [Asp>Gly] | Hb A2-Wanxian | HBD:c.299A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63609 |
3003 | CD 100 CCT>TCT [Pro>Ser] | Hb A2-Saurashtra | HBD:c.301C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63611 |
3002 | CD 104 AGG>AAG [Arg>Lys] | Hb Chori-Burnaby | HBD:c.314G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63624 |
1383 | CD 104 AGG>AGT | Hb A2-Capri | HBD:c.315G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63625 |
1340 | IVS II-1 G>A | N/A | HBD:c.315+1G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63626 |
1341 | IVS II-6 (T>A) | N/A | HBD:c.315+6T>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63631 |
1399 | Hb Lepore-Boston-Washington | NG_000007.3:g.63632_71046del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63632 | |
1403 | (Hb Anti-Lepore P-India) | Hb P-India | NG_000007.3:g.63632_71046dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63632 |
1507 | Sicilian (δβ)0 | N/A | NG_000007.3:g.64336_77738del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 64336 |
1512 | Laotian (δβ)0 (Thai (δβ)0-thal) | N/A | NG_000007.3:g.(64336_64524)_76866del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 64336 |
1513 | Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 ) | N/A | NG_000007.3:g.64384_76993del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 64384 |
1342 | IVS II-894 C>T | N/A | HBD:c.316-5C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64519 |
1343 | IVS II-897 A>C | N/A | HBD:c.316-2A>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 64522 |
2473 | IVS II-897 A>G | N/A | HBD:c.316-2A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 64522 |
2201 | CD 107 G>A [Gly>Asp] | Hb A2-Tianhe | HBD:c.323G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64531 |
3235 | CD 108 AAT>GAT [Asn>Asp] | Hb A2-Meizhou | HBD:c.325A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64533 |
2521 | CD 110-111 +GT | N/A | HBD:c.333_334insGT | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64541 |
3234 | CD 113 (+TG) | N/A | HBD:c.341_342dupTG | δ | Causative | δ-thalassaemia | NG_000007.3 | 64549 |
3230 | CD 115 GCC>GTC [Ala>Val] | N/A | HBD:c.347C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64555 |
1384 | CD 116 CGC>TGC [Arg>Cys] | Hb A2-Troodos | HBD:c.349C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64557 |
1402 | (Hb Anti-Lepore P-Congo) | Hb P-Congo | NG_000007.3:g.64557_71923dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 64557 |
3229 | CD 116 CGC>GGC [Arg>Gly] | N/A | HBD:c.349C>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 64557 |
1385 | CD 116 CGC>CAC [Arg>His] | Hb A2-Coburg | HBD:c.350G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
3314 | CD 116 CGC>CCC [Arg>Pro] | Hb A2-Bornova | HBD:c.350G>C | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
3318 | CD 116 CGC>CTC [Arg>Leu] (Hb A2-India) | Hb A2-Lepore | HBD:c.350G>T | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
1386 | CD 117 AAC>GAC | Hb A2-Liangcheng | HBD:c.352A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64560 |
2574 | CD 117 AAC>ACC [Asn>Thr] | Hb A2-Amsterdam | HBD:c.353A>C | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64561 |
2363 | CD 119 GGC>GAC [Gly>Asp] | Hb A2-Lewisburg | HBD:c.359G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64567 |
3843 | CD 120 AAG>ACG [Lys>Thr] | Hb A2-Liangqing | HBD:c.362A>C | δ | Causative | δ-chain variant | NG_000007.3 | 64570 |
3058 | CD 121 GAA>AAA [Glu>Lys] | Hb A2-Fengshun | HBD:c.364G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64572 |
1387 | CD 121 GAA>GTA | Hb A2-Manzanares | HBD:c.365A>T | δ | Causative | δ-chain variant | NG_000007.3 | 64573 |
4012 | CD 123 ACC>GCC [Thr>Ala] | Hb A2-Kuching | HBD:c.370A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64578 |
1388 | CD 125 CAA>GAA | Hb A2-Zagreb | HBD:c.376C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64584 |
3867 | >6.5 Kb deletion | N/A | NG_000007.3:g.(63032_64585)_(71150_72080)del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 64585 |
4034 | CD 125 CAA>CGA [Gln>Arg] | Hb A2-Tongchuan | HBD:c.377A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64585 |
3546 | CD 130 TAT>-AT | Hb A2-Gaslini 1 | HBD:c.391delT | δ | Causative | δ-chain variant | NG_000007.3 | 64599 |
3490 | CD 131 CAG>GAG [Gln>Glu] | Hb A2-Puer | HBD:c.394C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64602 |
1389 | CD 133 GTG>GCG | Hb A2-Ninive | HBD:c.401T>C | δ | Causative | δ-chain variant | NG_000007.3 | 64609 |
3842 | CD134 GTG>GAG [Val>Glu] | N/A | HBD:c.404T>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 64612 |
1390 | CD 136 GGT>GAT [Gly>Asp] | Hb A2-Babinga | HBD:c.410G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64618 |
2482 | CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park) | Hb Lincoln Park | HBD:c.412_414delGTG | δ | Causative | δ-chain variant, Haemolytic anaemia | NG_000007.3 | 64620 |
1391 | CD 140 GCC>GTC | Hb A2-Bagheria | HBD:c.422C>T | δ | Causative | δ-chain variant | NG_000007.3 | 64630 |
1392 | CD 141 CTG>CCG | Hb A2-Pelendri | HBD:c.425T>C | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64633 |
2524 | CD 142 GCT>CCT [Ala>Pro] | N/A | HBD:c.427C>A | δ | Causative | δ-chain variant | NG_000007.3 | 64635 |
1393 | CD 142 GCT>GAT [Ala>Asp] | Hb A2-Fitzroy | HBD:c.428C>A | δ | Causative | δ-chain variant | NG_000007.3 | 64636 |
2560 | CD 142 GCT>GTT [Ala>Val] | Hb A2-Episkopi | HBD:c.428C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64636 |
2392 | CD 143 CAC>TAC [His>Tyr] | Hb Noah Mehmet Oeztuerk | HBD:c.430C>T | δ | Causative | δ-chain variant | NG_000007.3 | 64638 |
2421 | CD 143 CAC>GAC [His>Asp] | Hb A2-Leuven | HBD:c.430C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64638 |
2989 | CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo) | Hb A2-Leuven II | HBD:c.431A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64639 |
3376 | CD 144 AAG>GAG [Lys>Glu] | Hb A2-Angola | HBD:c.433A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64641 |
2349 | CD 144 AAG>ACG [Lys>Thr] | Hb A2-San Floro | HBD:c.434A>C | δ | Causative | δ-chain variant | NG_000007.3 | 64642 |
1394 | CD 146 CAT>CGT | Hb A2-Monreale | HBD:c.440A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64648 |
3269 | CD 147 TGA>CGA [Stop>Arg] | N/A | HBD:c.442T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 64650 |
2520 | CD 147 TGA>TTA | N/A | HBD:c.443G>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64651 |
3394 | 223 kb deletion | N/A | NC_000011.10:g.5010012_5232933del | δ, β | Causative | β-thalassaemia | NG_000007.3 | 64683 |
4033 | Poly A +69 (G>T) | N/A | HBD:c.*199G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64851 |
1346 | Poly A +69 (G>A) | N/A | HBD:c.*199G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 64851 |
3958 | 8.2 kb deletion | N/A | NG_000007.3:g.65147_73407del | β | Causative | β-thalassaemia | NG_000007.3 | 65147 |
298 | Filipino (~45 kb deletion) | N/A | NC_000011.10:g.5112882 _5231358del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66258 |
292 | Turk (~7.6 kb deletion) | N/A | NG_000007.3:g.[52524_60162del;66278_73952del] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66278 |
2283 | South-Italy | N/A | NC_000011.10:g.5164564_5230714del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66902 |
2157 | Indian (4056 bp deletion) | N/A | NG_000007.3:g.67357_71413del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 67357 |
3997 | 7.2 kb deletion | N/A | NC_000011.10:g.5222800_5230034del | β | Causative | β-thalassaemia | NG_000007.3 | 67582 |
296 | Dutch (12620 bp deletion) | N/A | NG_000007.3:g.68071_80682del12612 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 68071 |
2124 | Caucasian HPFH (27825 bp deletion) | N/A | NC_000011.10:g.5201455_5229279delins5223936_5223960 | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68337 |
1505 | South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion) | N/A | NC_000011.10:g.5201647_5229059del | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68557 |
3823 | 60 kb deletion (Prachinburi β0-thalassemia deletion) | N/A | NC_000011.10:g.5167971_5228123delinsA | β | Causative | β-thalassaemia | NG_000007.3 | 69493 |
289 | Croatian (1605 bp deletion) | N/A | NG_000007.3:g.69561_71164del1604 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69561 |
290 | Thai (3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del) | N/A | NG_000007.3:g.69826_73313del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69826 |
2150 | 1357 bp deletion (Taiwanese deletion) | N/A | NG_000007.3:g.69997_71353del1357 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69997 |
288 | Black, British (1393 bp deletion) | N/A | NG_000007.3:g.70060_71452del1393 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70060 |
2125 | Afghan (909 bp deletion) | N/A | NG_000007:g.70067_70976del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70067 |
284 | 468 bp deletion | N/A | NG_000007.3:g.70070_70537del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70070 |
285 | Black (532 bp deletion) | N/A | HBB:c.-504_28del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70091 |
3277 | 538 bp deletion | N/A | HBB:c.-464_74del | NG_000007.3:g.70131_70668del | β | Causative | β-thalassaemia | NG_000007.3 | 70131 |
3278 | 1517 bp deletion | N/A | HBB:c.-390_316-169delinsA | β | Causative | β-thalassaemia | NG_000007.3 | 70205 |
4066 | 10.8 kb deletion | N/A | NC_000011.10:g.5216601_5227407del | β | Causative | β-thalassaemia | NG_000007.3 | 70209 |
3081 | -223 T>C | N/A | HBB:c.-273T>C | β | Causative | β-thalassaemia | NG_000007.3 | 70322 |
3562 | -198 A>G | N/A | HBB:c.-248A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70347 |
1 | -190 (G>A) | N/A | HBB:c.-240G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70355 |
2122 | 125 bp deletion | N/A | NG_000007.3:g.70360_70485del125 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70360 |
2153 | Kabylia deletion/insertion | N/A | NG_000007.3:g.70417_72458delinsATAAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70417 |
283 | 290 bp deletion | N/A | HBB:c.-176_92+25del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70419 |
2 | -102 (C>A) | N/A | HBB:c.-152C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70443 |
3 | -101 (C>T) | N/A | HBB:c.-151C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70444 |
4 | -101 (C>G) | N/A | HBB:c.-151C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70444 |
3752 | -99 to -85 (-15bp) | N/A | HBB:c.-149_-135delGTGGAGCCACACCCT | β | Causative | β-thalassaemia | NG_000007.3 | 70446 |
3059 | -98 T>A | N/A | HBB:c.-148T>A | β | Causative | β-thalassaemia | NG_000007.3 | 70447 |
5 | -93 C>G | N/A | HBB:c.-143C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70452 |
6 | -92 (C>T) | N/A | HBB:c.-142C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70453 |
7 | -90 (C>T) | N/A | HBB:c.-140C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70455 |
3224 | -90 (C>G) | N/A | HBB:c.-140C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70455 |
3990 | -89 to -88 (-AC) | N/A | HBB:c.-139_-138delAC | β | Causative | β-thalassaemia | NG_000007.3 | 70456 |
2178 | -88 C>G | N/A | HBB:c.-138C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
8 | -88 (C>T) | N/A | HBB:c.-138C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
9 | -88 (C>A) | N/A | HBB:c.-138C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
10 | -87 C>G | N/A | HBB:c.-137C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
11 | -87 (C>T) | N/A | HBB:c.-137C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
12 | -87 (C>A) | N/A | HBB:c.-137C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
13 | -86 C>G | N/A | HBB:c.-136C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70459 |
14 | -86 (C>A) | N/A | HBB:c.-136C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70459 |
4028 | -86 C>T | N/A | HBB:c.-136C>T | β | Causative | β-thalassaemia | NG_000007.3 | 70459 |
3077 | -83 G>A | N/A | HBB:c.-133G>A | β | Causative | β-thalassaemia | NG_000007.3 | 70462 |
3069 | -77 G>C | N/A | HBB:c.-127G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70468 |
3386 | -76 C>A | N/A | HBB:c.-126C>A | β | Causative | β-thalassaemia | NG_000007.3 | 70469 |
3671 | -76 C>T | N/A | HBB:c.-126C>T | β | Causative | β-thalassaemia | NG_000007.3 | 70469 |
3672 | -73 A>C | N/A | HBB:c.-123A>C | β | Causative | β-thalassaemia | NG_000007.3 | 70472 |
3673 | -73 A>G | N/A | HBB:c.-123A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70472 |
15 | -73 (A>T) | N/A | HBB:c.-123A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70472 |
2997 | -72 T>A | N/A | HBB:c.-122T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70473 |
2171 | -71 C>T | N/A | HBB:c.-121C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70474 |
3674 | -63 A>G | N/A | HBB:c.-113A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70482 |
16 | -56 G>C | N/A | HBB:c.-106G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70489 |
17 | -50 G>A | N/A | HBB:c.-100G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70495 |
3060 | -42 C>G | N/A | HBB:c.-92C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70503 |
3925 | -42 (-C) | N/A | HBB:c.-92delC | β | Causative | β-thalassaemia | NG_000007.3 | 70503 |
2172 | -41 A>T | N/A | HBB:c.-91A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70504 |
18 | -32 (C>A) | N/A | HBB:c.-82C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70513 |
19 | -32 (C>T) | N/A | HBB:c.-82C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70513 |
20 | -31 (A>G) | N/A | HBB:c.-81A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70514 |
21 | -31 (A>C) | N/A | HBB:c.-81A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70514 |
22 | -30 (T>A) | N/A | HBB:c.-80T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
23 | -30 (T>C) | N/A | HBB:c.-80T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
2179 | -30 T>G | N/A | HBB:c.-80T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
3062 | -30 (-T) | N/A | HBB:c.-80delT | β | Causative | β-thalassaemia | NG_000007.3 | 70515 |
24 | -29 to -26 (-AA) | N/A | HBB:c.-79_78delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
25 | -29 (A>G) | N/A | HBB:c.-79A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
26 | -29 (A>C) | N/A | HBB:c.-79A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
28 | -28 (A>C) | N/A | HBB:c.-78A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70517 |
29 | -28 (A>G) | N/A | HBB:c.-78A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70517 |
30 | -27 (A>T) | N/A | HBB:c.-77A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70518 |
31 | -27 (-AA) | N/A | HBB:c.-77_-76delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70518 |
2175 | -26 A>C | N/A | HBB:c.-76A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70519 |
2565 | -25 G>T | N/A | HBB:c.-75G>T | β | Causative | β-thalassaemia | NG_000007.3 | 70520 |
32 | -25 (G>C) | N/A | HBB:c.-75G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70520 |
282 | 105 bp deletion | N/A | HBB:c.-74_31del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70521 |
3926 | -17 (A>G) | N/A | HBB:c.-67A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70528 |
34 | CAP +1 (A>C) | N/A | HBB:c.-50A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70545 |
3464 | CAP +3 A>T | N/A | HBB:c.-48A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70547 |
35 | CAP +8 (C>T) | N/A | HBB:c.-43C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70552 |
36 | CAP +10 (-T) (5'UTR +10 (-T)) | N/A | HBB:c.-41delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70554 |
3627 | CAP +20 (-C) | N/A | HBB:c.-31delC | β | Causative | β-thalassaemia | NG_000007.3 | 70564 |
3345 | CAP +22 (G>T) | N/A | HBB:c.-29G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70566 |
38 | CAP +22 (G>A) | N/A | HBB:c.-29G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70566 |
3676 | CAP +27 (C>G) | N/A | HBB:c.-24C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70571 |
33 | -22 to +23 (+45 bp duplication) | N/A | NG_000007.3:g.70573_70617dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70573 |
2536 | CAP +30 T>A | N/A | HBB:c.-21T>A | β | Causative | β-thalassaemia | NG_000007.3 | 70574 |
4089 | CAP +32 (G>C) | N/A | HBB:c.-19G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70576 |
39 | CAP +33 (C>G) | N/A | HBB:c.-18C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70577 |
2176 | CAP +39 C>T | N/A | HBB:c.-12C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70583 |
40 | CAP +41 to +44 (-AACA) (CAP +40 to +43 (-AAAC)) | N/A | HBB:c.-10_-7delAACA | β | Causative | β-thalassaemia | NG_000007.3 | 70585 |
41 | CAP +45 (G>C) | Hb Odisha | HBB:c.-6G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70589 |
42 | Init CD ATG>GTG | N/A | HBB:c.1A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70595 |
43 | Init CD ATG>CTG | N/A | HBB:c.1A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70595 |
44 | Init CD ATG>ACG | N/A | HBB:c.2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
45 | Init CD ATG>AGG | N/A | HBB:c.2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
46 | Init CD ATG>AAG | N/A | HBB:c.2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
47 | Init CD ATG>ATC | N/A | HBB:c.3G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
48 | Init CD ATG>ATA | N/A | HBB:c.3G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
49 | Init CD ATG>ATT | N/A | HBB:c.3G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
50 | CD 1 (-G) | N/A | HBB:c.4delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70598 |
790 | CD 1 GTG>ATG | Hb South Florida | HBB:c.4G>A | β | Causative | β-chain variant | NG_000007.3 | 70598 |
791 | CD 1 GTG>TTG | Hb Niigata | HBB:c.4G>T | β | Causative | β-chain variant | NG_000007.3 | 70598 |
792 | CD 1 GTG>GGG | Hb Watford | HBB:c.5T>G | β | Causative | β-chain variant | NG_000007.3 | 70599 |
793 | CD 1 GTG>GCG | Hb Raleigh | HBB:c.5T>C | β | Causative | β-chain variant | NG_000007.3 | 70599 |
794 | CD 1 GTG>GAG | Hb Doha | HBB:c.5T>A | β | Causative | β-chain variant | NG_000007.3 | 70599 |
51 | CD 2-4 (-9 bp, +31 bp) | N/A | HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70601 |
795 | CD 2 CAT>TAT | Hb Fukuoka | HBB:c.7C>T | β | Causative | β-chain variant | NG_000007.3 | 70601 |
3437 | CD 2 CAT>-AT | Hb Bundelkhand | HBB:c.7delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70601 |
2542 | CD 2 CAT>AAT [His>Asn] | Hb Franklin Park | HBB:c.7C>A | β | Causative | β-chain variant | NG_000007.3 | 70601 |
3014 | CD 2 CAT>C-T | N/A | HBB:c.8delA | β | Causative | β-thalassaemia | NG_000007.3 | 70602 |
796 | CD 2 CAT>CCT [His>Pro] (Hb Long Island-Marseille, Hb Agrigente) | Hb Marseille | HBB:c.8A>C | β | Causative | β-chain variant | NG_000007.3 | 70602 |
797 | CD 2 CAT>CTT | Hb Graz | HBB:c.8A>T | β | Causative | β-chain variant | NG_000007.3 | 70602 |
799 | CD 2 CAT>CGT | Hb Deer Lodge | HBB:c.8A>G | β | Causative | β-chain variant | NG_000007.3 | 70602 |
53 | CD 2/3 (+T); CD 5 (-C) | Hb Antalya | HBB:c.[9dupT; 17delC] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70603, 70611 |
800 | CD 2 CAT>CAA or CAG | Hb Okayama | HBB:c.9T>A | HBB:c.9T>G | β | Causative | β-chain variant | NG_000007.3 | 70603 |
3561 | CD 2 CAT/CA- | N/A | HBB:c.9delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70603 |
3794 | CD 3 (CTG>AAG) [Leu>Lys] | Hb Jiangnan | HBB:c.10_11delinsAA | β | Causative | β-chain variant | NG_000007.3 | 70604 |
2327 | CD 3 CTG>ATG [Leu>Met] | Hb Niguarda | HBB:c.10C>A | β | Causative | β-chain variant | NG_000007.3 | 70604 |
802 | CD 3 CTG>GTG [Leu>Val] | Hb Kamakura | HBB:c.10C>G | β | Causative | β-chain variant | NG_000007.3 | 70604 |
52 | CD 3 (+T) | N/A | HBB:c.11dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70605 |
803 | CD 3 CTG>CAG [Leu>Gln] | Hb Santo Domingo | HBB:c.11T>A | β | Causative | β-chain variant | NG_000007.3 | 70605 |
3878 | CD 3 CTG>CGG [Leu>Arg] | Hb Sedgwick | HBB:c.11T>G | β | Causative | β-chain variant | NG_000007.3 | 70605 |
2359 | CD 3 CTG>CCG [Leu>Pro] | Hb Jabalpur | HBB:c.11T>C | β | Causative | β-chain variant | NG_000007.3 | 70605 |
2326 | CD 4 ACT>CCT [Thr>Pro] | Hb Benin City | HBB:c.13A>C | β | Causative | β-chain variant | NG_000007.3 | 70607 |
804 | CD 4 ACT>AAT | Hb Wurzburg | HBB:c.14C>A | β | Causative | β-chain variant | NG_000007.3 | 70608 |
3817 | CD 4 (-T) | N/A | HBB:c.14delC | β | Causative | β-thalassaemia | NG_000007.3 | 70608 |
3949 | CD 4 ACT>ATT [Thr>Ile] | Hb Fox Point | HBB:c.14C>T | β | Causative | β-chain variant | NG_000007.3 | 70608 |
55 | CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG) | N/A | HBB:c.[15T>A;16C>T;19G>T] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70609, 70610, 70613 |
805 | CD 5 CCT>TCT | Hb Tyne | HBB:c.16C>T | β | Causative | β-chain variant | NG_000007.3 | 70610 |
806 | CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke) | Hb Gorwihl | HBB:c.16C>G | β | Causative | β-chain variant | NG_000007.3 | 70610 |
54 | CD 5 -CT | N/A | HBB:c.17_18delCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70611 |
807 | CD 5 CCT>CGT | Hb Warwickshire | HBB:c.17C>G | β | Causative | β-chain variant | NG_000007.3 | 70611 |
2321 | CD 5 CCT>CTT [Pro>Leu] | Hb Aix-les-Bains | HBB:c.17C>T | β | Causative | β-chain variant | NG_000007.3 | 70611 |
2180 | CD 5/6 -TG | N/A | HBB:c.18_19delTG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70612 |
2184 | CD 6-14 (-26 bp) (26 bp deletion) | N/A | HBB:c.20_45del26bp | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70613 |
56 | CD 6 (GAG>TAG) | N/A | HBB:c.19G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70613 |
808 | CD 6 GAG>AAG; CD 95 AAG>GAG | Hb Arlington Park | HBB:c.[19G>A;286A>G] | β | Causative | β-chain variant | NG_000007.3 | 70613 |
809 | CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met] | Hb Kingsbury | HBB:c.[19G>A ;295G>A] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70613 |
810 | CD 6 GAG>AAG [Glu>Lys] | HbC | HBB:c.19G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70613 |
811 | CD 6 GAG>AAG [Glu>Lys]; CD 37 TGG>AGG or CGG [Trp>Arg] | Hb C-Rothschild | HBB:c.[19G>A;112T>A] | HBB:c.[19G>A;112T>C] | β | Causative | β-chain variant | NG_000007.3 | 70613, 70836 |
812 | CD 6 GAG>AAG; CD 83 GGC>GAC | Hb C-New Cross | HBB:c.[19G>A;251G>A] | β | Causative | β-chain variant | NG_000007.3 | 70613 |
813 | CD 6 GAG>CAG | Hb Machida | HBB:c.19G>C | β | Causative | β-chain variant | NG_000007.3 | 70613 |
57 | CD 6 -A | N/A | HBB:c.20delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70614 |
58 | CD 6 (-G) | N/A | HBB:c.20delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70614 |
814 | CD 6 GAG>GTG | Hb S-South End | HBB:c.[20A>T;399A>C] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
815 | CD 6 GAG>GTG; CD 23 GTT>ATT | Hb S-Antilles | HBB:c.[20A>T;70G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
816 | CD 6 GAG>GTG; CD 58 CCT>CGT | Hb C-Ziguinchor | HBB:c.[20A>T;176C>G] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
817 | CD 6 GAG>GTG; CD 73 GAT>AAT | Hb C-Harlem | HBB:c.[20A>T;220G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
818 | CD 6 GAG>GTG; CD 82AAG>AAT or AAC | Hb S-Providence | HBB:c.[20A>T;249G>C] | HBB:c.[20A>T;249G>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
819 | CD 6 GAG>GTG; CD 142 GCC>GTC | Hb S-Travis | HBB:c.[20A>T;428C>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
820 | CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly] | Hb C-Ndjamena; Hb S-Northwick | HBB:c.[20A>T;112T>G] | β | Causative | β-chain variant | NG_000007.3 | 70614, 70836 |
821 | CD 6 GAG>GTG; CD 121 GAA>AAA | Hb S-Oman | HBB:c.[20A>T;364G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
822 | CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr] | Hb S-Clichy | HBB:c.[20A>T;26A>C] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
823 | CD 6 GAG>GTG; CD 90 GAG>AAG | Hb S-Cameroon | HBB:c.[20A>T;271G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
824 | CD 6 GAG>GTG [Glu>Val] (Sickle-cell) | HbS | HBB:c.20A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70614 |
825 | CD 6 GAG>GTG; CD 68 CTC>TTC | Hb Jamaica Plain | HBB:c.[20A>T;205C>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
826 | CD 6 GAG>GCG | Hb G-Makassar | HBB:c.20A>C | β | Causative | β-chain variant | NG_000007.3 | 70614 |
827 | CD 6 GAG>GGG [Glu>Gly] | Hb Lavagna | HBB:c.20A>G | β | Causative | β-chain variant | NG_000007.3 | 70614 |
2440 | CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu] | Hb S-Sao Paulo | HBB:c.[20A>T ;196A>G] | β | Causative | β-chain variant | NG_000007.3 | 70614, 70920 |
3324 | CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser] | Hb S-Wake | HBB:c.[20A>T;419A>G] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70614, 71993 |
59 | CD 6-10 (-13 bp) | N/A | HBB:c.21_33delGGAGAAGTCTGCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70615 |
60 | CD 7 GAG>TAG | N/A | HBB:c.22G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70616 |
828 | CD 7 (-GAG) [-Glu] (Hb Xinyi) | Hb Leiden | HBB:c.22_24delGAG | β | Causative | β-chain variant | NG_000007.3 | 70616 |
829 | CD 7 GAG>AAG | Hb G-Siriraj | HBB:c.22G>A | β | Causative | β-chain variant | NG_000007.3 | 70616 |
2400 | CD 7 GAG>CAG [Glu>Gln] (Hb Bellevue III) | Hb Vellore | HBB:c.22G>C | β | Causative | β-chain variant | NG_000007.3 | 70616 |
2963 | CD 7 GAG>GTG [Glu>Val] | Hb Haaglanden | HBB:c.23A>T | β | Causative | β-chain variant | NG_000007.3 | 70617 |
3288 | CD7 GAG>G-G | N/A | HBB:c.23delA | β | Causative | β-thalassaemia | NG_000007.3 | 70617 |
830 | CD 7 GAG>GGG | Hb G-San José | HBB:c.23A>G | β | Causative | β-chain variant | NG_000007.3 | 70617 |
2382 | CD 7 GAG>GAT [Glu>Asp] | Hb Stockholm | HBB:c.24G>T | β | Causative | β-chain variant | NG_000007.3 | 70618 |
2958 | CD 7/8 (+G) | N/A | HBB:c.24dupG | β | Causative | β-thalassaemia | NG_000007.3 | 70618 |
61 | CD 8 (-AA) | N/A | HBB:c.25_26delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70619 |
831 | CD 8 AAG>CAG [Lys>Gln] | Hb J-Luhe | HBB:c.25A>C | β | Causative | β-chain variant | NG_000007.3 | 70619 |
832 | CD 8 AAG>GAG | Hb N-Timone | HBB:c.25A>G | β | Causative | β-chain variant | NG_000007.3 | 70619 |
833 | CD 8 AAG>ACG | Hb Rio Grande | HBB:c.26A>C | β | Causative | β-chain variant | NG_000007.3 | 70620 |
834 | CD 8 AAG>ATG | Hb Nakano | HBB:c.26A>T | β | Causative | β-chain variant | NG_000007.3 | 70620 |
835 | CD 8 AAG>AGG [Lys>Arg] | Hb Lucknow | HBB:c.26A>G | β | Causative | β-chain variant | NG_000007.3 | 70620 |
2185 | CD 8/9 +AGAA | N/A | HBB:c.27_28insAGAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70620 |
3513 | CD 8 AAG>AA- | N/A | HBB:c.27delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70621 |
62 | CD 8/9 (+G) | N/A | HBB:c.27dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70621 |
836 | CD 8 AAG>AAC | Hb Limassol | HBB:c.27G>C | β | Causative | β-chain variant | NG_000007.3 | 70621 |
63 | CD 9 (+TA) | N/A | HBB:c.28_29insTA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70622 |
837 | CD 9 TCT>TAT | Hb Brem-sur-Mer | HBB:c.29C>A | β | Causative | β-chain variant | NG_000007.3 | 70623 |
838 | CD 9 TCT>TGT | Hb Pôrto Alegre | HBB:c.29C>G | β | Causative | β-chain variant | NG_000007.3 | 70623 |
839 | CD 9 TCT>TAT; CD 121 GAA>CAA | Hb D-Agri | HBB:c.[29C>A;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 70623 |
3401 | CD 9 TCT>TTT [Ser>Phe] | Hb Hengyang | HBB:c.29C>T | β | Causative | β-chain variant | NG_000007.3 | 70623 |
3399 | CD 9 TCT>TC- | Hb Antep | HBB:c.30delT | β | Causative | β-chain variant | NG_000007.3 | 70624 |
64 | CD 9/10 (+T) | Hb Gaziantep | HBB:c.30dupT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70624 |
840 | CD 10 GCC>ACC [Ala>Thr] | Hb Belleville | HBB:c.31G>A | β | Causative | β-chain variant | NG_000007.3 | 70625 |
4108 | CD 10 GCC>GTC [Ala>Val] | N/A | HBB:c.31_32insT | β | Causative | β-thalassaemia | NG_000007.3 | 70625 |
841 | CD 10 GCC>GTC | Hb Iraq-Halabja | HBB:c.32C>T | β | Causative | β-chain variant | NG_000007.3 | 70626 |
842 | CD 10 GCC>GAC | Hb Ankara | HBB:c.32C>A | β | Causative | β-chain variant | NG_000007.3 | 70626 |
65 | CD 10 GCC>GCA [Ala>Ala] | N/A | HBB:c.33C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70627 |
66 | CD 10 (-C) | N/A | HBB:c.33delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70627 |
843 | CD 11 GTT>ATT | Hb Hamilton | HBB:c.34G>A | β | Causative | β-chain variant | NG_000007.3 | 70628 |
844 | CD 11 GTT>TTT | Hb Washtenaw | HBB:c.34G>T | β | Causative | β-chain variant | NG_000007.3 | 70628 |
845 | CD 11 GTT>ATT; CD 121 GAA>AAA | Hb O-Tibesti | HBB:c.[34G>A;364G>A] | β | Causative | β-chain variant | NG_000007.3 | 70628 |
3297 | CD 11-13 (-9bp): (-GTTACTGCC) | Hb JC-Paz | HBB:c.34_42delGTTACTGCC | β | Causative | β-chain variant | NG_000007.3 | 70628 |
847 | CD 11 GTT>GAT | Hb Windsor | HBB:c.35T>A | β | Causative | β-chain variant | NG_000007.3 | 70629 |
67 | CD 11 (-T) | N/A | HBB:c.36delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70630 |
2492 | CD 12 ACT>CCT [Thr>Pro] (Hb Feilding) | Hb Ashburton | HBB:c.37A>C | β | Causative | β-chain variant | NG_000007.3 | 70631 |
2543 | CD 12 ACT>ATT [Thr>Ile] | Hb William-Harvey | HBB:c.38C>T | β | Causative | β-chain variant | NG_000007.3 | 70632 |
3359 | CD 13 GCC>ACC [Ala>Thr] (Hb Chuxiong) | Hb Tower Hamlets | HBB:c.40G>A | β | Causative | β-chain variant | NG_000007.3 | 70634 |
848 | CD 13 GCC>GAC | Hb J-Lens | HBB:c.41C>A | β | Causative | β-chain variant | NG_000007.3 | 70635 |
3248 | CD 13 GCC>GTC [Ala>Val] | Hb Yulin | HBB:c.41C>T | β | Causative | β-chain variant | NG_000007.3 | 70635 |
3721 | CD 14 CTG>-TG | N/A | HBB:c.43delC | β | Causative | β-thalassaemia | NG_000007.3 | 70637 |
2553 | CD 14 CTG>C-G | N/A | HBB:c.44delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70638 |
68 | CD 14 (+T) | N/A | HBB:c.44dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70638 |
849 | CD 14 CTG>CCG | Hb Saki | HBB:c.44T>C | β | Causative | β-chain variant | NG_000007.3 | 70638 |
850 | CD 14 CTG>CGG | Hb Sogn | HBB:c.44T>G | β | Causative | β-chain variant | NG_000007.3 | 70638 |
69 | CD 14/15 (+G) | N/A | HBB:c.45dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70639 |
70 | CD 15 (-T) | N/A | HBB:c.46delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70640 |
851 | CD 15 TGG>GGG | Hb Randwick | HBB:c.46T>G | β | Causative | β-chain variant | NG_000007.3 | 70640 |
852 | CD 15 TGG>AGG or CGG | Hb Belfast | HBB:c.46T>A | HBB:c.46T>C | β | Causative | β-chain variant | NG_000007.3 | 70640 |
72 | CD 15 TGG>TAG | N/A | HBB:c.47G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70641 |
73 | CD 15 TGG>TGA | N/A | HBB:c.48G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70642 |
2464 | CD 15 TGG>TGC or TGT [Trp>Cys] | Hb Garston | HBB:c.48G>Y | β | Causative | β-chain variant | NG_000007.3 | 70642 |
2374 | CD 16 GGC>TGC [Gly>Cys] | Hb Whitmire | HBB:c.49G>T | β | Causative | β-chain variant | NG_000007.3 | 70643 |
853 | CD 16 GGC>CGC | Hb D-Bushman | HBB:c.49G>C | β | Causative | β-chain variant | NG_000007.3 | 70643 |
71 | CD 15/16 (+G) | N/A | HBB:c.50dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70644 |
74 | CD 15/16 (-G) | N/A | HBB:c.50delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70644 |
854 | CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven) | Hb J-Baltimore | HBB:c.50G>A | β | Causative | β-chain variant | NG_000007.3 | 70644 |
75 | CD 16 GGC>GG- | N/A | HBB:c.51delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70645 |
76 | CD 16 GGC>GGT [Gly>Gly] | N/A | HBB:c.51C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70645 |
77 | CD 17 AAG>TAG [Lys>STOP] | N/A | HBB:c.52A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70646 |
856 | CD 17 AAG>GAG | Hb Nagasaki | HBB:c.52A>G | β | Causative | β-chain variant | NG_000007.3 | 70646 |
857 | CD 17 AAG>CAG (Hb Nicosia) | Hb Nikosia | HBB:c.52A>C | β | Causative | β-chain variant | NG_000007.3 | 70646 |
78 | CD 17 (+A) | N/A | HBB:c.53dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70647 |
2298 | CD 17 AAG>ATG (Lys>Met) | Hb Ede | HBB:c.53A>T | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70647 |
855 | CD 17-19 (-GGTGAA) | Hb Lyon | HBB:c.54_59del | β | Causative | β-chain variant | NG_000007.3 | 70648 |
858 | CD 17 AAG>AAC or AAT | Hb J-Amiens | HBB:c.54G>C | HBB:c.54G>T | β | Causative | β-chain variant | NG_000007.3 | 70648 |
859 | CD 18 GTG>ATG | Hb Baden | HBB:c.55G>A | β | Causative | β-chain variant | NG_000007.3 | 70649 |
3005 | CD 18 GTG>CTG [Val>Leu] | Hb Bhubaneswar | HBB:c.55G>C | β | Causative | β-chain variant | NG_000007.3 | 70649 |
860 | CD 18 GTG>GGG | Hb Sinai-Baltimore | HBB:c.56T>G | β | Causative | β-chain variant | NG_000007.3 | 70650 |
861 | CD 19 AAC>GAC | Hb Alamo | HBB:c.58A>G | β | Causative | β-chain variant | NG_000007.3 | 70652 |
79 | CD 19 AAC>AGC [Asn>Ser] | Hb Malay | HBB:c.59A>G | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70653 |
863 | CD 19 AAC>AAA or AAG | Hb D-Ouled Rabah | HBB:c.60C>A | HBB:c.60C>G | β | Causative | β-chain variant | NG_000007.3 | 70654 |
864 | CD 20 GTG>ATG | Hb Olympia | HBB:c.61G>A | β | Causative | β-chain variant | NG_000007.3 | 70655 |
865 | CD 20 GTG>GGG | Hb Uxbridge | HBB:c.62T>G | β | Causative | β-chain variant | NG_000007.3 | 70656 |
866 | CD 20 GTG>GAG | Hb Trollhättan | HBB:c.62T>A | β | Causative | β-chain variant | NG_000007.3 | 70656 |
3609 | CD 20/21 (-TGGA) | N/A | HBB:c.62_65delTGGA | β | Causative | β-thalassaemia | NG_000007.3 | 70656 |
2974 | CD 20 GTG>GCG [Val>Ala] | Hb Howden | HBB:c.62T>C | β | Causative | β-chain variant | NG_000007.3 | 70656 |
80 | CD 20-22 (GTGGATGAA>GTGAA) | N/A | HBB:c.64_67del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70658 |
81 | CD 20/21 (+G) | N/A | HBB:c.64dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70658 |
867 | CD 21 GAT>TAT | Hb Yusa | HBB:c.64G>T | β | Causative | β-chain variant | NG_000007.3 | 70658 |
868 | CD 21 GAT>CAT | Hb Karlskoga | HBB:c.64G>C | β | Causative | β-chain variant | NG_000007.3 | 70658 |
869 | CD 21 GAT>AAT | Hb Cocody | HBB:c.64G>A | β | Causative | β-chain variant | NG_000007.3 | 70658 |
870 | CD 21 GAT>GGT | Hb Connecticut | HBB:c.65A>G | β | Causative | β-chain variant | NG_000007.3 | 70659 |
871 | CD 21 GAT>GTT | Hb Rocky Mountain | HBB:c.65A>T | β | Causative | β-chain variant | NG_000007.3 | 70659 |
83 | CD 22 (GAA>TAA) | N/A | HBB:c.67G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70661 |
873 | CD 22 GAA>CAA | Hb D-Iran | HBB:c.67G>C | β | Causative | β-chain variant | NG_000007.3 | 70661 |
874 | CD 22 GAA>AAA | Hb E-Saskatoon | HBB:c.67G>A | β | Causative | β-chain variant | NG_000007.3 | 70661 |
84 | CD 22-24 ( -7 bp): (-AAGTTGG) | N/A | HBB:c.68_74delAAGTTGG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70662 |
875 | CD 22 GAA>GTA | Hb D-Granada | HBB:c.68A>T | β | Causative | β-chain variant | NG_000007.3 | 70662 |
876 | CD 22 GAA>GCA (Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu) | Hb G-Coushatta | HBB:c.68A>C | β | Causative | β-chain variant | NG_000007.3 | 70662 |
877 | CD 22 GAA>GGA | Hb G-Taipei | HBB:c.68A>G | β | Causative | β-chain variant | NG_000007.3 | 70662 |
872 | CD 22-26 (-12bp) | Hb Olinda | HBB:c.69_80delAGTTGGTGGTGA | β | Causative | β-chain variant | NG_000007.3 | 70663 |
2330 | CD 22 GAA>GAT [Glu>Asp] | Hb Bury | HBB:c.69A>T | β | Causative | β-chain variant | NG_000007.3 | 70663 |
879 | CD 23 GTT>ATT [Val>Ile] | Hb Saveh | HBB:c.70G>A | β | Causative | β-chain variant | NG_000007.3 | 70664 |
880 | CD 23 GTT>TTT | Hb Palmerston North | HBB:c.70G>T | β | Causative | β-chain variant | NG_000007.3 | 70664 |
4106 | CD 23 GTT>TTT; CD 26 GAG>AAG | Hb E-Palmerston North | HBB:c.[70G>T;79G>A] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70664, 70673 |
878 | CD 23/24 (GTTGGT>GGT) | Hb Freiburg | HBB:c.71_73del | β | Causative | β-chain variant | NG_000007.3 | 70665 |
881 | CD 23 GTT>GCT | Hb Zoeterwoude | HBB:c.71T>C | β | Causative | β-chain variant | NG_000007.3 | 70665 |
882 | CD 23 GTT>GGT | Hb Miyashiro | HBB:c.71T>G | β | Causative | β-chain variant | NG_000007.3 | 70665 |
883 | CD 23 GTT>GAT | Hb Strasbourg | HBB:c.71T>A | β | Causative | β-chain variant | NG_000007.3 | 70665 |
885 | CD 24 GGT>CGT | Hb Riverdale-Bronx | HBB:c.73G>C | β | Causative | β-chain variant | NG_000007.3 | 70667 |
85 | CD 24 (-G, +CAC) | N/A | HBB:c.74delinsCAC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70668 |
886 | CD 24 GGT>GAT [Gly>Asp] | Hb Moscva | HBB:c.74G>A | β | Causative | β-chain variant | NG_000007.3 | 70668 |
887 | CD 24 GGT>GTT | Hb Savannah | HBB:c.74G>T | β | Causative | β-chain variant | NG_000007.3 | 70668 |
2174 | CD 24 -G | N/A | HBB:c.74delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70668 |
86 | CD 24 GGT>GGA [Gly>Gly] | N/A | HBB:c.75T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70669 |
281 | IVS I [3 end] -44 bp (44 bp deletion) | N/A | HBB:c.76_92+27del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70670 |
888 | CD 25 GGT>CGT | Hb G-Taiwan-Ami | HBB:c.76G>C | β | Causative | β-chain variant | NG_000007.3 | 70670 |
2452 | CD 25 GGT>AGT [Gly>Ser] | Hb Brazzaville | HBB:c.76G>A | β | Causative | β-chain variant | NG_000007.3 | 70670 |
3306 | CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT) | Hb M Dothan | HBB:c.77_79delGTG | β | Causative | β-chain variant | NG_000007.3 | 70671 |
889 | CD 25 GGT>GAT | Hb J-Auckland | HBB:c.77G>A | β | Causative | β-chain variant | NG_000007.3 | 70671 |
87 | CD 25/26 (+T) | N/A | HBB:c.78dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70672 |
88 | CD 26 GAG>AAG [Glu>Lys] | HbE | HBB:c.79G>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
89 | CD 26 (GAG>TAG) | N/A | HBB:c.79G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
90 | CD 26 (+T) | N/A | HBB:c.79_80insT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
891 | CD 26 GAG>AAG, CD 104 AGG>ACG | Hb Corbeil | HBB:c.[79G>A;314G>C] | β | Causative | β-chain variant | NG_000007.3 | 70673 |
892 | CD 26 GAG>AAG; CD 121 GAA>CAA | Hb T-Cambodia | HBB:c.[79G>A;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 70673 |
3035 | CD 26 GAG>CAG [Glu>Gln] | Hb King's Mill | HBB:c.79G>C | β | Causative | β-chain variant | NG_000007.3 | 70673 |
3409 | CD 26 GAG>AAG, IVS I-7 A>G | Hb E-Udon Thani | HBB:c.[79G>A;92+7A>G] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 70693 |
3597 | CD 26 (GAG>AAG); CD 104 (AGG>GGG) | Hb E-Gurdaspur | HBB:c.[79G>A;313A>G] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 71037 |
4023 | CD 26 GAG>AAG, IVS I-7 A>T | N/A | HBB:c.[79G>A;92+7A>T] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 70693 |
893 | CD 26 GAG>GGG | Hb Aubenas | HBB:c.80A>G | β | Causative | β-chain variant | NG_000007.3 | 70674 |
894 | CD 26 GAG>GCG | Hb Tripoli | HBB:c.80A>C | β | Causative | β-chain variant | NG_000007.3 | 70674 |
895 | CD 26 GAG>GTG [Glu>Val] | Hb Henri Mondor | HBB:c.80A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70674 |
2403 | CD 26 GAG>GAC or GAT [Glu>Asp] | Hb Marijampolė | HBB:c.81G>Y | β | Causative | β-chain variant | NG_000007.3 | 70675 |
91 | CD 27 GCC>TCC [Ala>Ser] | Hb Knossos | HBB:c.82G>T | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70676 |
897 | CD 27 GCC>GTC | Hb Grange-Blanche | HBB:c.83C>T | β | Causative | β-chain variant | NG_000007.3 | 70677 |
898 | CD 27 GCC>GAC | Hb Volga | HBB:c.83C>A | β | Causative | β-chain variant | NG_000007.3 | 70677 |
899 | CD 27 GCC>GGC [Ala>Gly] | Hb Siirt | HBB:c.83C>G | β | Causative | β-chain variant | NG_000007.3 | 70677 |
92 | CD 27/28 (+C) | N/A | HBB:c.85dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70679 |
93 | CD 28 (-C) | N/A | HBB:c.85delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70679 |
900 | CD 28 CTG>ATG [Leu>Met] | Hb Chile | HBB:c.85C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70679 |
94 | CD 28 CTG>CGG [Leu >Arg] | Hb Chesterfield | HBB:c.86T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70680 |
901 | CD 28 CTG>CCG [Leu>Pro] | Hb Genova | HBB:c.86T>C | β | Causative | β-chain variant | NG_000007.3 | 70680 |
902 | CD 28 CTG>CAG [Leu>Gln] | Hb Saint Louis | HBB:c.86T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70680 |
904 | CD 29 GGC>AGC [Gly>Ser] | Hb Tizi-Ouzou | HBB:c.88G>A | β | Causative | β-chain variant | NG_000007.3 | 70682 |
2523 | CD 29 GGC>CGC [Gly>Arg] | Hb Dompierre | HBB:c.88G>C | β | Causative | β-chain variant | NG_000007.3 | 70682 |
95 | CD 28/29 (-G) | N/A | HBB:c.89delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70683 |
905 | CD 29 GGC>GAC | Hb Lufkin | HBB:c.89G>A | β | Causative | β-chain variant | NG_000007.3 | 70683 |
96 | CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly) | N/A | HBB:c.90C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70684 |
97 | CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly) | N/A | HBB:c.91A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
98 | CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg] | N/A | HBB:c.91A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
3484 | CD 30 (-A) or IVS I (-2) AGG>-GG | N/A | HBB:c.91delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
3710 | CD 30 AGG>TGG [Arg>Trp] | Hb New Berlin | HBB:c.91A>T | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70685 |
99 | CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys) | N/A | HBB:c.92G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70686 |
100 | CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan) | Hb Monroe | HBB:c.92G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70686 |
101 | IVS I-1 G>A | N/A | HBB:c.92+1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
102 | IVS I-1 (G>T) | N/A | HBB:c.92+1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
103 | IVS I-1 (G>C) | N/A | HBB:c.92+1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
104 | IVS I-2 (T>G) | N/A | HBB:c.92+2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
105 | IVS I-2 (T>C) | N/A | HBB:c.92+2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
106 | IVS I-2 (T>A) | N/A | HBB:c.92+2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
107 | IVS I-5 (G>C) | N/A | HBB:c.92+5G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
108 | IVS I-5 (G>T) | N/A | HBB:c.92+5G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
109 | IVS I-5 (G>A) | N/A | HBB:c.92+5G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
111 | IVS I-6 (T>C) | N/A | HBB:c.92+6T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70692 |
3565 | IVS I-6 (T>G) | N/A | HBB:c.92+6T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70692 |
112 | IVS I-7 A>T | N/A | HBB:c.92+7A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70693 |
3276 | IVS I-7 A>G | N/A | HBB:c.92+7A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70693 |
3690 | IVS I-65 (G>A) | N/A | HBB:c.92+65G>A | β | Causative | β-thalassaemia | NG_000007.3 | 70751 |
3066 | IVS I-108 T>C | N/A | HBB:c.93-23T>C | β | Causative | β-thalassaemia | NG_000007.3 | 70794 |
2173 | IVS I-109 (-T) | N/A | HBB:c.93-22delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70795 |
280 | IVS I [3' end] (-25 bp) (25 bp deletion) | N/A | NC_000011.10(NM_000518.4):c.93-22_95del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70795 |
113 | IVS I-110 G>A | N/A | HBB:c.93-21G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70796 |
121 | IVS I [3' end] (-17 bp) (17 bp deletion) | N/A | HBB:c.93-17_93-1delTATTTTCCCACCCTTAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70800 |
3008 | IVS I-115 (A>T) | N/A | HBB:c.93-16A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70801 |
114 | IVS I-116 (T>G) | N/A | HBB:c.93-15T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70802 |
124 | IVS I [3' end] (+22bp) | N/A | NG_000007.3:g.70807_70828dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70807 |
115 | IVS I-128 (T>G) | N/A | HBB:c.93-3T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70814 |
116 | IVS I-129 (A>C) | N/A | HBB:c.93-2A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70815 |
117 | IVS I-129 (A>G) | N/A | HBB:c.93-2A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70815 |
4067 | IVS I-129 (A>T) | N/A | HBB:c.93-2A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70815 |
118 | IVS I-130 G>C | N/A | HBB:c.93-1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70816 |
119 | IVS I-130 (G>A) | N/A | HBB:c.93-1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70816 |
120 | IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser) | Hb Tacoma II | HBB:c.93G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70817 |
125 | CD 30/31 +CGG [+Arg] | N/A | HBB:c.93_94insCGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70817 |
907 | CD 30 AGG>AGT [Arg>Ser] | Hb Tacoma | HBB:c.93G>T | β | Causative | β-chain variant | NG_000007.3 | 70817 |
126 | CD 31 (-C) | N/A | HBB:c.94delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70818 |
908 | CD 31 CTG>GTG | Hb Badalona | HBB:c.94C>G | β | Causative | β-chain variant | NG_000007.3 | 70818 |
909 | CD 31 CTG>CGG | Hb Hakkari | HBB:c.95T>G | β | Causative | β-chain variant | NG_000007.3 | 70819 |
910 | CD 31 CTG>CCG | Hb Yokohama | HBB:c.95T>C | β | Causative | β-chain variant | NG_000007.3 | 70819 |
911 | CD 32 CTG>GTG | Hb Muscat | HBB:c.97C>G | β | Causative | β-chain variant | NG_000007.3 | 70821 |
127 | CD 32 CTG>CAG: CD 98 GTG>ATG | Hb Medicine Lake | HBB:c.[98T>A; 295G>A] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70822 |
912 | CD 32 CTG>CCG | Hb Perth | HBB:c.98T>C | β | Causative | β-chain variant | NG_000007.3 | 70822 |
913 | CD 32 CTG>CAG [Leu>Gln] | Hb Clermont Ferrand | HBB:c.98T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70822 |
915 | CD 32 CTG>CGG [Leu>Arg] | Hb Castilla | HBB:c.98T>G | β | Causative | β-chain variant | NG_000007.3 | 70822 |
916 | CD 33 GTG>ATG | Hb Rio Claro | HBB:c.100G>A | β | Causative | β-chain variant | NG_000007.3 | 70824 |
3364 | CD 33 GTG>TTG [Val>Leu] | Hb Venissieux | HBB:c.100G>T | β | Causative | β-chain variant | NG_000007.3 | 70824 |
131 | CD 33-35 (-TGGTCT) | Hb Dresden | HBB:c.101_106delTGGTCT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70825 |
129 | CD 33/34 (GTGGTC>GTC) | Hb Korea | HBB:c.102_104del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70826 |
130 | CD 33-34 (-G) | N/A | HBB:c.102_103delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70826 |
919 | CD 34 GTC>CTC | Hb Nantes | HBB:c.103G>C | β | Causative | β-chain variant | NG_000007.3 | 70827 |
920 | CD 34 GTC>TTC | Hb Pitie-Salpetriere | HBB:c.103G>T | β | Causative | β-chain variant | NG_000007.3 | 70827 |
921 | CD 34 GTC>GAC | Hb Santander | HBB:c.104T>A | β | Causative | β-chain variant | NG_000007.3 | 70828 |
3700 | CD 34 GTC>GCC [Val>Ala] | Hb San Francisco-KP | HBB:c.104T>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70828 |
3795 | CD 35 TAC>GAC [Tyr>Asp] | Hb Oristano | HBB:c.106T>G | β | Causative | β-chain variant | NG_000007.3 | 70830 |
2331 | CD 35 TAC>CAC [Tyr>His] | Hb Fulwood | HBB:c.106T>C | β | Causative | β-chain variant | NG_000007.3 | 70830 |
132 | CD 35 TAC>TGC [Tyr>Cys] | N/A | HBB:c.107A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70831 |
922 | CD 35 TAC>TTC [Tyr>Phe] | Hb Philly | HBB:c.107A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70831 |
133 | CD 35 TAC>TAA | N/A | HBB:c.108C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70832 |
3023 | CD 35 TAC>TAG | N/A | HBB:c.108C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70832 |
3692 | CD 35 (TAC>TA-) | N/A | HBB:c.108delC | β | Causative | β-thalassaemia | NG_000007.3 | 70832 |
923 | CD 36 CCT>ACT | Hb Linköping | HBB:c.109C>A | β | Causative | β-chain variant | NG_000007.3 | 70833 |
924 | CD 36 CCT>GCT | Hb Brie Comte Robert | HBB:c.109C>G | β | Causative | β-chain variant | NG_000007.3 | 70833 |
925 | CD 36 CCT>TCT | Hb North Chicago | HBB:c.109C>T | β | Causative | β-chain variant | NG_000007.3 | 70833 |
128 | CD 36 CCT>C-T (CD 36 (-C)) | N/A | HBB:c.110del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70834 |
926 | CD 36 CCT>CGT [Pro>Arg] | Hb Sunnybrook | HBB:c.110C>G | β | Causative | β-chain variant | NG_000007.3 | 70834 |
927 | CD 36 CCT>CAT | Hb Vila Real | HBB:c.110C>A | β | Causative | β-chain variant | NG_000007.3 | 70834 |
135 | CD 36-39 (-8 bp) | N/A | HBB:c.111_118delTTGGACCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70835 |
134 | CD 36/37 (-T) | N/A | HBB:c.112delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70836 |
928 | CD 37 TGG>AGG [Trp>Arg] | Hb Rothschild | HBB:c.112T>A | β | Causative | β-chain variant | NG_000007.3 | 70836 |
929 | CD 37 TGG>GGG | Hb Howick | HBB:c.112T>G | β | Causative | β-chain variant | NG_000007.3 | 70836 |
138 | CD 37 (TGG>TAG) | N/A | HBB:c.113G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70837 |
930 | CD 37 TGG>TCG | Hb Hirose | HBB:c.113G>C | β | Causative | β-chain variant | NG_000007.3 | 70837 |
3918 | CD 37 TGG>TTG [Trp>Leu] | Hb Alessandria | HBB:c.113G>T | β | Causative | β-chain variant | NG_000007.3 | 70837 |
136 | CD 37 (-G) | N/A | HBB:c.114delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
137 | CD 37 (TGG>TGA) | N/A | HBB:c.114G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
139 | CD 37-39 (-7 bp): (-GACCCAG) | N/A | HBB:c.114_120del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
931 | CD 37 TGG>TGT [Trp>Cys] (Hb Greendale) | Hb Kent | HBB:c.114G>T | β | Causative | β-chain variant | NG_000007.3 | 70838 |
3282 | CD 37 TGG>TGC [Trp>Cys] (Hb Kent) | N/A | HBB:c.114G>C | β | Causative | β-chain variant | NG_000007.3 | 70838 |
4112 | CD 38 ACC>GCC [Thr>Ala] | Hb Oviedo | HBB:c.115A>G | β | Causative | β-chain variant | NG_000007.3 | 70839 |
932 | CD 38 ACC>CCC | Hb Hazebrouck | HBB:c.115A>C | β | Causative | β-chain variant | NG_000007.3 | 70839 |
933 | CD 38 ACC>AAC | Hb Hinwil | HBB:c.116C>A | β | Causative | β-chain variant | NG_000007.3 | 70840 |
934 | CD 38 ACC>ATC | Hb La Coruna | HBB:c.116C>T | β | Causative | β-chain variant | NG_000007.3 | 70840 |
2280 | CD 38 ACC>AGC | N/A | HBB:c.116C>G | β | Causative | β-chain variant | NG_000007.3 | 70840 |
141 | CD 38/39 (-CC) | N/A | HBB:c.117_118delCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70841 |
140 | CD 38/39 (-C) | N/A | HBB:c.118delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70842 |
142 | CD 39 CAG>TAG [Gln>STOP] | N/A | HBB:c.118C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70842 |
935 | CD 39 CAG>AAG | Hb Alabama | HBB:c.118C>A | β | Causative | β-chain variant | NG_000007.3 | 70842 |
936 | CD 39 CAG>GAG | Hb Vaasa | HBB:c.118C>G | β | Causative | β-chain variant | NG_000007.3 | 70842 |
937 | CD 39 CAG>CGG [Gln>Arg] | Hb Tianshui | HBB:c.119A>G | β | Causative | β-chain variant | NG_000007.3 | 70843 |
2393 | CD 39 -A | N/A | HBB:c.119delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70843 |
2962 | CD 39 CAG>CCG [Gln>Pro] | Hb Hyden | HBB:c.119A>C | β | Causative | β-chain variant | NG_000007.3 | 70843 |
938 | CD 39 CAG>CAC | Hb San Bruno | HBB:c.120G>C | β | Causative | β-chain variant | NG_000007.3 | 70844 |
4045 | CD 40 AGG>GGG [Arg>Gly] | Hb Montpellier | HBB:c.121A>G | β | Causative | β-chain variant | NG_000007.3 | 70845 |
2544 | CD 40 AGG>ACG [Arg>Thr] | Hb Alcorn County | HBB:c.122G>C | β | Causative | β-chain variant | NG_000007.3 | 70846 |
939 | CD 40 AGG>AAG [Arg>Lys] | Hb Athens-GA | HBB:c.122G>A | β | Causative | β-chain variant | NG_000007.3 | 70846 |
940 | CD 40 AGG>ATG [Arg>Met] | Hb Taipei-Tien | HBB:c.122G>T | β | Causative | β-chain variant | NG_000007.3 | 70846 |
143 | CD 40 (-G) | N/A | HBB:c.123delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70847 |
144 | CD 40 (+86 bp) (HGSA) | N/A | HBB:c.123_208dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70847 |
941 | CD 40 AGG>AGT [Arg>Ser] | Hb Austin | HBB:c.123G>T | β | Causative | β-chain variant | NG_000007.3 | 70847 |
3004 | CD 41 TTC>GTC [Phe>Val] | Hb Valme | HBB:c.124T>G | β | Causative | β-chain variant | NG_000007.3 | 70848 |
145 | CD 40/41 (+T) | N/A | HBB:c.125dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70849 |
942 | CD 41 TTC>TGC | Hb Ilmenau | HBB:c.125T>G | β | Causative | β-chain variant | NG_000007.3 | 70849 |
943 | CD 41 TTC>TCC | Hb Denver | HBB:c.125T>C | β | Causative | β-chain variant | NG_000007.3 | 70849 |
944 | CD 41 TTC>TAC | Hb Mequon | HBB:c.125T>A | β | Causative | β-chain variant | NG_000007.3 | 70849 |
146 | CD 41 (-C) | N/A | HBB:c.126delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70850 |
147 | CD 41/42 (-CTTT) (CD 41/42 (-TTCT), CD 41/42 (-TCTT)) | N/A | HBB:c.126_129delCTTT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70850 |
2387 | CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu] | Hb Brevedent | HBB:c.[202G>A ;126C>G] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70850 |
2972 | CD 41 TTC>TTA [Phe>Leu] | Hb Wilton | HBB:c.126C>A | β | Causative | β-chain variant | NG_000007.3 | 70850 |
2461 | CD 42 TTT>ATT [Phe>Ile] | Hb Oslo | HBB:c.127T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70851 |
945 | CD 42 (-TTT) | Hb Bruxelles | HBB:c.127_129delTTT | β | Causative | β-chain variant | NG_000007.3 | 70851 |
947 | CD 42 TTT>CTT [Phe>Leu] | Hb Louisville | HBB:c.127T>C | β | Causative | β-chain variant | NG_000007.3 | 70851 |
948 | CD 42 TTT>GTT (Hb Warsaw) | Hb Sendagi | HBB:c.127T>G | β | Causative | β-chain variant | NG_000007.3 | 70851 |
949 | CD 42 TTT>TCT [Phe>Ser] | Hb Hammersmith | HBB:c.128T>C | β | Causative | β-chain variant | NG_000007.3 | 70852 |
2332 | CD 42 TTT>TGT [Phe>Cys] | Hb Little Venice | HBB:c.128T>G | β | Causative | β-chain variant | NG_000007.3 | 70852 |
2954 | CD 42 TTT>TT- | Hb Yala | HBB:c.129delT | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70853 |
4079 | CD 42 TTT>TTA [Phe>Leu] | Hb Suqian | HBB:c.129T>A | β | Causative | β-chain variant | NG_000007.3 | 70853 |
148 | CD 42/43 (+T) | N/A | HBB:c.129dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70853 |
149 | CD 42/43 (+G) | N/A | HBB:c.130dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70854 |
150 | CD 43 (GAG>TAG) | N/A | HBB:c.130G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70854 |
950 | CD 43 GAG>CAG | Hb Hoshida | HBB:c.130G>C | β | Causative | β-chain variant | NG_000007.3 | 70854 |
951 | CD 43 GAG>AAG [Glu>Lys] | Hb Hornchurch | HBB:c.130G>A | β | Causative | β-chain variant | NG_000007.3 | 70854 |
3594 | CD 43 (GAG>TAG);CD 71/72 (+A) | N/A | HBB:c.[130G>T;217dupA] | β | Causative | β-thalassaemia | NG_000007.3 | 70854, 70941 |
946 | CD 43-46 (-9bp) | Hb Niteroi | HBB:c.131_139del | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70855 |
952 | CD 43 GAG>GGG [Glu>Gly] | Hb Haringey | HBB:c.131A>G | β | Causative | β-chain variant | NG_000007.3 | 70855 |
953 | CD 43 GAG>GCG | Hb G-Galveston | HBB:c.131A>C | β | Causative | β-chain variant | NG_000007.3 | 70855 |
954 | CD 44 TCC>TGC | Hb Mississippi | HBB:c.134C>G | β | Causative | β-chain variant | NG_000007.3 | 70858 |
3969 | CD 44 TCC>TTC [Ser>Phe] | Hb Narges Lab | HBB:c.134C>T | β | Causative | β-chain variant | NG_000007.3 | 70858 |
151 | CD 44 -C | N/A | HBB:c.135delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70859 |
2531 | CD 45 TTT>GTT [Phe>Val] | Hb Duc Pho | HBB:c.136T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70860 |
955 | CD 45 TTT>TCT | Hb Cheverly | HBB:c.137T>C | β | Causative | β-chain variant | NG_000007.3 | 70861 |
956 | CD 45 TTT>TAT [Phe>Tyr] | Hb Den Haag | HBB:c.137T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70861 |
957 | CD 45 TTT>TGT | Hb Arta | HBB:c.137T>G | β | Causative | β-chain variant | NG_000007.3 | 70861 |
152 | CD 45 (-T) | N/A | HBB:c.138delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
153 | CD 45 (+T) | N/A | HBB:c.138dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
154 | CD 45/46 (+A) | N/A | HBB:c.138_139insA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
958 | CD 46 GGG>AGG | Hb Gainesville-GA | HBB:c.139G>A | β | Causative | β-chain variant | NG_000007.3 | 70863 |
3567 | CD 46 GGG>CGG [Gly>Arg] | Hb Cenxi | HBB:c.139G>C | β | Causative | β-chain variant | NG_000007.3 | 70863 |
959 | CD 46 GGG>GAG | Hb K-Ibadan | HBB:c.140G>A | β | Causative | β-chain variant | NG_000007.3 | 70864 |
960 | CD 47 GAT>AAT [Asp>Asn] | Hb G-Copenhagen | HBB:c.142G>A | β | Causative | β-chain variant | NG_000007.3 | 70866 |
961 | CD 47 GAT>CAT [Asp>His] | Hb Maryland | HBB:c.142G>C | β | Causative | β-chain variant | NG_000007.3 | 70866 |
962 | CD 47 GAT>TAT | Hb Maputo | HBB:c.142G>T | β | Causative | β-chain variant | NG_000007.3 | 70866 |
2960 | CD 46/47 (+G) | N/A | HBB:c.142_142dupG | β | Causative | β-thalassaemia | NG_000007.3 | 70866 |
155 | CD 47 (+A) | N/A | HBB:c.143dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70867 |
156 | CD 47/48 (+ATCT) | N/A | HBB:c.143_146dupATCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70867 |
963 | CD 47 GAT>GCT | Hb Avicenna | HBB:c.143A>C | β | Causative | β-chain variant | NG_000007.3 | 70867 |
964 | CD 47 GAT>GGT | Hb Gavello | HBB:c.143A>G | β | Causative | β-chain variant | NG_000007.3 | 70867 |
965 | CD 47 GAT>GTT | Hb Muravera | HBB:c.143A>T | β | Causative | β-chain variant | NG_000007.3 | 70867 |
966 | CD 48 CTG>CGG | Hb Okaloosa | HBB:c.146T>G | β | Causative | β-chain variant | NG_000007.3 | 70870 |
967 | CD 48 CTG>CCG | Hb Bab-Saadoun | HBB:c.146T>C | β | Causative | β-chain variant | NG_000007.3 | 70870 |
2187 | CD 48 -T | N/A | HBB:c.146delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70870 |
3494 | CD 49 TCC>CCC [Ser>Pro] | Hb Yunnan | HBB:c.148T>C | β | Causative | β-chain variant | NG_000007.3 | 70872 |
968 | CD 49 TCC>TGC | Hb Colima | HBB:c.149C>G | β | Causative | β-chain variant | NG_000007.3 | 70873 |
969 | CD 49 TCC>TTC | Hb Las Palmas | HBB:c.149C>T | β | Causative | β-chain variant | NG_000007.3 | 70873 |
2407 | CD 49-55 (-19 bp +4 bp) | Hb Martinez | HBB:c.149_167delinsAGCT | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70873 |
157 | CD 49 (-C) | N/A | HBB:c.150delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70874 |
970 | CD 50 ACT>TCT [Thr>Ser] | Hb Zurich-Langstrasse | HBB:c.151A>T | β | Causative | β-chain variant | NG_000007.3 | 70875 |
3571 | CD 50 ACT>GCT [Thr>Ala] | N/A | HBB:c.151A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70875 |
3940 | CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T | Hb Zurich-Langstrasse | HBB:c.[151A>T;316-197C>T] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70875, 71693 |
971 | CD 50 ACT>AAG or AAA | Hb Edmonton | HBB:c.[152C>A;153T>A] | HBB:c.[152C>A;153T>G] | β | Causative | β-chain variant | NG_000007.3 | 70876 |
158 | CD 50 (-T) | N/A | HBB:c.153delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70877 |
972 | CD 51 CCT>TCT, CD 52 GAT>AAT | Hb Grenoble | HBB:c.[154C>T;157G>A] | β | Causative | β-chain variant | NG_000007.3 | 70878 |
159 | CD 51 (-C) | N/A | HBB:c.155delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70879 |
973 | CD 51 CCT>CAT | Hb North Manchester | HBB:c.155C>A | β | Causative | β-chain variant | NG_000007.3 | 70879 |
974 | CD 51 CCT>CGT | Hb Willamette | HBB:c.155C>G | β | Causative | β-chain variant | NG_000007.3 | 70879 |
975 | CD 52 GAT>TAT [Asp>Tyr] | Hb Languidic | HBB:c.157G>T | β | Causative | β-chain variant | NG_000007.3 | 70881 |
976 | CD 52 GAT>CAT | Hb Summer Hill | HBB:c.157G>C | β | Causative | β-chain variant | NG_000007.3 | 70881 |
977 | CD 52 GAT>AAT | Hb Osu Christiansborg | HBB:c.157G>A | β | Causative | β-chain variant | NG_000007.3 | 70881 |
978 | CD 52 GAT>GGT | Hb Hokusetsu | HBB:c.158A>G | β | Causative | β-chain variant | NG_000007.3 | 70882 |
979 | CD 52 GAT>GCT | Hb Ocho Rios | HBB:c.158A>C | β | Causative | β-chain variant | NG_000007.3 | 70882 |
980 | CD 52 GAT>GTT [Asp>Val] | Hb Akron | HBB:c.158A>T | β | Causative | β-chain variant | NG_000007.3 | 70882 |
2959 | CD 52 GAT>G-T | N/A | HBB:c.158delA | β | Causative | β-thalassaemia | NG_000007.3 | 70882 |
982 | CD 53 GCT>ACT | Hb Acharnes | HBB:c.160G>A | β | Causative | β-chain variant | NG_000007.3 | 70884 |
2964 | CD 53 GCT>GTT [Ala>Val] | Hb Midnapore | HBB:c.161C>T | β | Causative | β-chain variant | NG_000007.3 | 70885 |
160 | CD 53 (-T) | N/A | HBB:c.162delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70886 |
161 | CD 53/54 (+G) | N/A | HBB:c.163dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70887 |
3368 | CD 54 GTT>CTT [Val>Leu] | Hb Askew | HBB:c.163G>C | β | Causative | β-chain variant | NG_000007.3 | 70887 |
4094 | CD 54 GTT>-TT | N/A | HBB:c.163del | β | Causative | β-thalassaemia | NG_000007.3 | 70887 |
983 | CD 54 GTT>GAT | Hb Jacksonville | HBB:c.164T>A | β | Causative | β-chain variant | NG_000007.3 | 70888 |
162 | CD 54 -T | N/A | HBB:c.165delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70889 |
164 | CD 54-58 (-13bp) | N/A | HBB:c.165_177delTATGGGCAACCCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70889 |
163 | CD 54/55 (+A) | N/A | HBB:c.166dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70890 |
165 | CD 55 (-A) | N/A | HBB:c.166delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70890 |
984 | CD 55 ATG>AAG | Hb Matera | HBB:c.167T>A | β | Causative | β-chain variant | NG_000007.3 | 70891 |
2990 | CD 55-59 (-13 bp) | N/A | HBB:c.167_179del | β | Causative | β-thalassaemia | NG_000007.3 | 70891 |
985 | CD 56 GGC>TGC | Hb Leeds | HBB:c.169G>T | β | Causative | β-chain variant | NG_000007.3 | 70893 |
986 | CD 56 GGC>CGC | Hb Hamadan | HBB:c.169G>C | β | Causative | β-chain variant | NG_000007.3 | 70893 |
987 | CD 56 GGC>CGC; CD 86 GCC>CCC | Hb Poissy | HBB:c.[169G>C;259G>C] | β | Causative | β-chain variant | NG_000007.3 | 70893 |
166 | CD 56-60 (+14 bp) | N/A | HBB:c.170_183dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70894 |
988 | CD 56 GGC>GAC (Hb J-Korat , Hb J-Manado , Hb J-Meinung) | Hb J-Bangkok | HBB:c.170G>A | β | Causative | β-chain variant | NG_000007.3 | 70894 |
989 | CD 56-60 (-12bp) | Hb Tochigi | HBB:c.170_181del | β | Causative | β-chain variant | NG_000007.3 | 70894 |
990 | CD 57 AAC>CAC [Asn>His] | Hb Sidcup | HBB:c.172A>C | β | Causative | β-chain variant | NG_000007.3 | 70896 |
991 | CD 57 AAC>GAC | Hb J-Daloa | HBB:c.172A>G | β | Causative | β-chain variant | NG_000007.3 | 70896 |
992 | CD 57 AAC>ACC [Asn>Thr] | Hb Viseu | HBB:c.173A>C | β | Causative | β-chain variant | NG_000007.3 | 70897 |
2333 | CD 57 AAC>AGC [Asn>Ser] | Hb Cork | HBB:c.173A>G | β | Causative | β-chain variant | NG_000007.3 | 70897 |
993 | CD 57 AAC>AAA or AAG | Hb G-Ferrara | HBB:c.174C>A | HBB:c.174C>G | β | Causative | β-chain variant | NG_000007.3 | 70898 |
167 | CD 58 (+C) | N/A | HBB:c.176dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70900 |
994 | CD 58 CCT>CAT [Pro>His] | Hb Sheffield | HBB:c.176C>A | β | Causative | β-chain variant | NG_000007.3 | 70900 |
995 | CD 58 CCT>CGT [Pro>Arg] | Hb Dhofar | HBB:c.176C>G | β | Causative | β-chain variant | NG_000007.3 | 70900 |
3311 | CD 58 CCT>C-T | N/A | HBB:c.176delC | β | Causative | β-thalassaemia | NG_000007.3 | 70900 |
2998 | CD 59 AAG>CAG [ Lys>Gln] | Hb Hillsborought | HBB:c.178A>C | β | Causative | β-chain variant | NG_000007.3 | 70902 |
3061 | CD 59 (+T) | N/A | HBB:c.178_179insT | β | Causative | β-thalassaemia | NG_000007.3 | 70902 |
169 | CD 59 (AAG>TAG) | N/A | HBB:c.178A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70902 |
996 | CD 59 AAG>GAG | Hb I-High Wycombe | HBB:c.178A>G | β | Causative | β-chain variant | NG_000007.3 | 70902 |
168 | CD 59 -A | N/A | HBB:c.179delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70903 |
997 | CD 59 AAG>ACG [Lys>Thr] | Hb J-Kaohsiung | HBB:c.179A>C | β | Causative | β-chain variant | NG_000007.3 | 70903 |
3747 | CD 59 AAG>ATG [Lys>Met] | Hb Dahua | HBB:c.179A>T | β | Causative | β-chain variant | NG_000007.3 | 70903 |
4086 | CD 59 AAG>AA-, CD 59 (-G) | N/A | HBB:c.180del | β | Causative | β-thalassaemia | NG_000007.3 | 70904 |
998 | CD 59 AAG>AAC or AAT | Hb J-Lome | HBB:c.180G>C | HBB:c.180G>T | β | Causative | β-chain variant | NG_000007.3 | 70904 |
999 | CD 60 GTG>CTG [Val>Leu] | Hb Yatsushiro | HBB:c.181G>C | β | Causative | β-chain variant | NG_000007.3 | 70905 |
3855 | CD 60 GTG>-TG [Val>STOP] | N/A | HBB:c.181delG | β | Causative | β-thalassaemia | NG_000007.3 | 70905 |
170 | CD 60 GTG>GAG [Val>Glu] | Hb Cagliari | HBB:c.182T>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70906 |
1000 | CD 60 GTG>GCG [Leu>Ala] | Hb Collingwood | HBB:c.182T>C | β | Causative | β-chain variant | NG_000007.3 | 70906 |
3298 | CD 60-61 (-6bp): (-TGAAGG) | Hb Tavapy | HBB:c.182_187delTGAAGG | β | Causative | β-chain variant | NG_000007.3 | 70906 |
172 | CD 61 (AAG>TAG) | N/A | HBB:c.184A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70908 |
1002 | CD 61 AAG>CAG | Hb Pocos de Caldas | HBB:c.184A>C | β | Causative | β-chain variant | NG_000007.3 | 70908 |
1003 | CD 61 AAG>GAG | Hb N-Seattle | HBB:c.184A>G | β | Causative | β-chain variant | NG_000007.3 | 70908 |
1004 | CD 61 AAG>ATG | Hb Bologna | HBB:c.185A>T | β | Causative | β-chain variant | NG_000007.3 | 70909 |
1005 | CD 61 AAG>AAC or AAT [Lys>Asn] | Hb Hikari | HBB:c.186G>C | HBB:c.186G>T | β | Causative | β-chain variant | NG_000007.3 | 70910 |
1006 | CD 62 GCT>CCT | Hb Duarte | HBB:c.187G>C | β | Causative | β-chain variant | NG_000007.3 | 70911 |
3589 | CD 62-65 (-12bp) | N/A | HBB:c.187_198delGCTCATGGCAAG | β | Causative | β-thalassaemia, Haemolytic anaemia | NG_000007.3 | 70911 |
2190 | CD 62-83 (+65 bp) | N/A | HBB:c.187_251dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70911 |
1007 | CD 62 GCT>GAT | Hb J-Europa | HBB:c.188C>A | β | Causative | β-chain variant | NG_000007.3 | 70912 |
3342 | CD 62 GCT>GTT [Ala>Val] | Hb Hachioji | HBB:c.188C>T | β | Causative | β-chain variant | NG_000007.3 | 70912 |
171 | CD 62-64 (-7bp) | N/A | HBB:c.189_195delTCATGGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70913 |
1008 | CD 63 CAT>AAT [His>Asn] | Hb Haná | HBB:c.190C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70914 |
1009 | CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad) | Hb M-Saskatoon | HBB:c.190C>T | β | Causative | β-chain variant | NG_000007.3 | 70914 |
1010 | CD 63 CAT>CCT | Hb Bicêtre | HBB:c.191A>C | β | Causative | β-chain variant | NG_000007.3 | 70915 |
1011 | CD 63 CAT>CGT [His>Arg] (Hb Zurich) | Hb Zürich | HBB:c.191A>G | β | Causative | β-chain variant | NG_000007.3 | 70915 |
2456 | CD 63 CAT>CTT [His>Leu] | Hb Temple Street | HBB:c.191A>T | β | Causative | β-chain variant | NG_000007.3 | 70915 |
3629 | CD 64 GGC>AGC [Gly>Ser] | Hb Hezhou | HBB:c.193G>A | β | Causative | β-chain variant | NG_000007.3 | 70917 |
3944 | CD 64 (+G) | N/A | HBB:c.194dup | β | Causative | β-thalassaemia | NG_000007.3 | 70918 |
173 | CD 64 (-G) | N/A | HBB:c.194delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70918 |
1012 | CD 64 GGC>GCC | Hb Aubagne | HBB:c.194G>C | β | Causative | β-chain variant | NG_000007.3 | 70918 |
1013 | CD 64 GGC>GAC | Hb J-Calabria | HBB:c.194G>A | β | Causative | β-chain variant | NG_000007.3 | 70918 |
2976 | CD 64 GGC>GTC [Gly>Val] | Hb Calgary | HBB:c.194G>T | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70918 |
3559 | CD 65 AAG>GAG [Lys>Glu] | Hb Guangxi | HBB:c.196A>G | β | Causative | β-chain variant | NG_000007.3 | 70920 |
1014 | CD 65 AAG>CAG | Hb J-Cairo | HBB:c.196A>C | β | Causative | β-chain variant | NG_000007.3 | 70920 |
1016 | CD 65 AAG>ATG | Hb J-Antakya | HBB:c.197A>T | β | Causative | β-chain variant | NG_000007.3 | 70921 |
1017 | CD 65 AAG>AAC or AAT | Hb J-Sicilia | HBB:c.198G>C | HBB:c.198G>T | β | Causative | β-chain variant | NG_000007.3 | 70922 |
174 | CD 66 AAA>TAA [Lys>STOP] | N/A | HBB:c.199A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70923 |
1018 | CD 66 AAA>GAA | Hb I-Toulouse | HBB:c.199A>G | β | Causative | β-chain variant | NG_000007.3 | 70923 |
2525 | CD 68/69 (+AAAGTGCTC) | Hb Bronx | HBB:c.199_207dupAAAGTGCTC | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70923 |
3854 | CD 66/67 (-AAAG) | N/A | HBB:c.199_202delAAAG | β | Causative | β-thalassaemia | NG_000007.3 | 70923 |
3367 | CD 66 AAA>ATA [Lys>Ile] | Hb Vigo | HBB:c.200A>T | β | Causative | β-chain variant | NG_000007.3 | 70924 |
1019 | CD 66 AAA>ACA | Hb Chico | HBB:c.200A>C | β | Causative | β-chain variant | NG_000007.3 | 70924 |
1020 | CD 66 AAA>AAT | Hb Ulm | HBB:c.201A>T | β | Causative | β-chain variant | NG_000007.3 | 70925 |
2188 | CD 66 -A | N/A | HBB:c.201delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70925 |
1021 | CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol) | Hb Alesha | HBB:c.202G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70926 |
175 | CD 67 (-TG) | N/A | HBB:c.203_204delGT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70927 |
1023 | CD 67 GTG>GGG [Val>Gly] | Hb Manukau | HBB:c.203T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70927 |
1024 | CD 67 GTG>GAG | Hb M-Milwaukee-I | HBB:c.203T>A | β | Causative | β-chain variant | NG_000007.3 | 70927 |
1025 | CD 67 GTG>GCG | Hb Sydney | HBB:c.203T>C | β | Causative | β-chain variant | NG_000007.3 | 70927 |
1029 | CD 69 (+GCTCGG) | Hb Nishinomiya | HBB:c.204_209dupGCTCGG | β | Causative | β-chain variant | NG_000007.3 | 70928 |
1026 | CD 68 CTC>TTC | Hb Loves Park | HBB:c.205C>T | β | Causative | β-chain variant | NG_000007.3 | 70929 |
1027 | CD 68 CTC>CAC | Hb Brisbane | HBB:c.206T>A | β | Causative | β-chain variant | NG_000007.3 | 70930 |
1028 | CD 68 CTC>CCC [Leu>Pro] | Hb Mizuho | HBB:c.206T>C | β | Causative | β-chain variant | NG_000007.3 | 70930 |
3019 | CD 68-70 (-7bp): (-TCGGTGC) | N/A | HBB:c.206_212delTCGGTGC | β | Causative | β-thalassaemia | NG_000007.3 | 70930 |
3798 | CD 69 GGT>TGT [Gly>Cys] | Hb Miguel Servet | HBB:c.208G>T | β | Causative | β-chain variant | NG_000007.3 | 70932 |
1030 | CD 69 GGT>AGT | Hb City of Hope | HBB:c.208G>A | β | Causative | β-chain variant | NG_000007.3 | 70932 |
1031 | CD 69 GGT>CGT | Hb Kenitra | HBB:c.208G>C | β | Causative | β-chain variant | NG_000007.3 | 70932 |
1032 | CD 69 GGT>GAT | Hb Rambam | HBB:c.209G>A | β | Causative | β-chain variant | NG_000007.3 | 70933 |
2522 | CD 69 GGT>G-T | N/A | HBB:c.209delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70933 |
2189 | CD 69 -T | N/A | HBB:c.210delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70934 |
1033 | CD 70 GCC>CCC [Ala>Pro] | Hb Abington | HBB:c.211G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70935 |
3799 | CD 70 GCC>ACC [Ala>Thr] | Hb La Mesa | HBB:c.211G>A | β | Causative | β-chain variant | NG_000007.3 | 70935 |
1034 | CD 70 GCC>GAC | Hb Seattle | HBB:c.212C>A | β | Causative | β-chain variant | NG_000007.3 | 70936 |
1035 | CD 70 GCC>GGC [Ala>Gly] | Hb Hershey | HBB:c.212C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70936 |
1036 | CD 70 GCC>GTC | Hb Marineo | HBB:c.212C>T | β | Causative | β-chain variant | NG_000007.3 | 70936 |
1037 | CD 71 TTT>TCT | Hb Christchurch | HBB:c.215T>C | β | Causative | β-chain variant | NG_000007.3 | 70939 |
2969 | CD 71 TTT>TAT [Phe>Tyr] | Hb Saint-Clair | HBB:c.215T>A | β | Causative | β-chain variant | NG_000007.3 | 70939 |
2462 | CD 71 -T | N/A | HBB:c.216delT | β | Causative | β-thalassaemia | NG_000007.3 | 70940 |
176 | CD 71 (+T) | N/A | HBB:c.216dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70940 |
177 | CD 71/72 (+A) | N/A | HBB:c.217dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70941 |
178 | CD 72-73 (-AGTGA, +T) | N/A | HBB: c.217_221delAGTGAinsT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70941 |
2401 | CD 72 AGT>ACT [Ser>Thr] | Hb Phimai | HBB:c.218G>C | β | Causative | β-chain variant | NG_000007.3 | 70942 |
2181 | CD 72/73 (+T) | N/A | HBB:c.219dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70943 |
3374 | CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr] | Hb South China | HBB:c.[219T>A;220G>T] | β | Causative | β-thalassaemia | NG_000007.3 | 70943, 70944 |
1038 | CD 72 AGT>AGA | Hb Headington | HBB:c.219T>A | β | Causative | β-chain variant | NG_000007.3 | 70943 |
1039 | CD 73 GAT>TAT | Hb Vancouver | HBB:c.220G>T | β | Causative | β-chain variant | NG_000007.3 | 70944 |
1040 | CD 73 GAT>AAT (Hb Korle-Bu) | Hb G-Accra | HBB:c.220G>A | β | Causative | β-chain variant | NG_000007.3 | 70944 |
1043 | CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln) | Hb Montreal | HBB:c.220_228delinsGCTCGGTGCCAG | β | Causative | β-chain variant | NG_000007.3 | 70944 |
2478 | CD 73 GAT>TAT>TTT [Asp>Phe] | Hb Meylan | HBB:c.[220G>T ;221A>T] | β | Causative | β-chain variant | NG_000007.3 | 70944 |
1041 | CD 73 GAT>GGT | Hb Tilburg | HBB:c.221A>G | β | Causative | β-chain variant | NG_000007.3 | 70945 |
1042 | CD 73 GAT>GTT | Hb Mobile | HBB:c.221A>T | β | Causative | β-chain variant | NG_000007.3 | 70945 |
1045 | CD 74 GGC>AGC [Gly>Ser] | Hb Kokomo | HBB:c.223G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70947 |
1046 | CD 74 GGC>CGC [Gly>Arg] | Hb Aalborg | HBB:c.223G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70947 |
1044 | CD 74-76 (-GCCTGG) | Hb Saint-Antoine | HBB:c.224_229delGCCTGG | β | Causative | β-chain variant | NG_000007.3 | 70948 |
1047 | CD 74 GGC>GTC | Hb Bushwick | HBB:c.224G>T | β | Causative | β-chain variant | NG_000007.3 | 70948 |
1048 | CD 74 GGC>GAC | Hb Shepherds Bush | HBB:c.224G>A | β | Causative | β-chain variant | NG_000007.3 | 70948 |
179 | CD 75 (-C) | N/A | HBB:c.226delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70950 |
1049 | CD 75 (-CTG) | Hb Vicksburg | HBB:c.226_228delCTG | β | Causative | β-chain variant | NG_000007.3 | 70950 |
1050 | CD 75 CTG>CCG; CD 141 (-CTG) | Hb Atlanta-Coventry | HBB:c.[227T>C;424_426delCTG] | β | Causative | β-chain variant | NG_000007.3 | 70951 |
1051 | CD 75 CTG>CCG | Hb Atlanta | HBB:c.227T>C | β | Causative | β-chain variant | NG_000007.3 | 70951 |
1052 | CD 75 CTG>CGG | Hb Pasadena | HBB:c.227T>G | β | Causative | β-chain variant | NG_000007.3 | 70951 |
4080 | CD 75 CTG>CAG [Leu>Gln] | Hb Raklev | HBB:c.227T>A | β | Causative | β-chain variant | NG_000007.3 | 70951 |
180 | CD 76 GCT>--T (-GC) | N/A | HBB:c.229_230delGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70953 |
1053 | CD 76 GCT>CCT | Hb Calais | HBB:c.229G>C | β | Causative | β-chain variant | NG_000007.3 | 70953 |
181 | CD 76 (-C) | N/A | HBB:c.230delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70954 |
1054 | CD 76 GCT>GTT [Ala>Val] | Hb Harlequin | HBB:c.230C>T | β | Causative | β-chain variant | NG_000007.3 | 70954 |
1055 | CD 76 GCT>GAT | Hb J-Chicago | HBB:c.230C>A | β | Causative | β-chain variant | NG_000007.3 | 70954 |
1056 | CD 77 CAC>TAC; CD 80 AAC>AGC | Hb Villeparisis | HBB:c.[232C>T;242A>G] | β | Causative | β-chain variant | NG_000007.3 | 70956 |
1057 | CD 77 CAC>TAC | Hb Fukuyama | HBB:c.232C>T | β | Causative | β-chain variant | NG_000007.3 | 70956 |
1058 | CD 77 CAC>GAC | Hb J-Iran | HBB:c.232C>G | β | Causative | β-chain variant | NG_000007.3 | 70956 |
2405 | CD 77 CAC>AAC [His>Asn] | Hb Heilbronn | HBB:c.232C>A | β | Causative | β-chain variant | NG_000007.3 | 70956 |
1059 | CD 77 CAC>CTC [His>Leu] | Hb St. Joseph's | HBB:c.233A>T | β | Causative | β-chain variant | NG_000007.3 | 70957 |
1060 | CD 77 CAC>CGC [His>Arg] | Hb Costa Rica | HBB:c.233A>G | β | Causative | β-chain variant | NG_000007.3 | 70957 |
2533 | CD 77 CAC>CCC [His>Pro] | Hb Brooklyn | HBB:c.233A>C | β | Causative | β-chain variant | NG_000007.3 | 70957 |
1061 | CD 77 CAC>CAG | Hb Vienna | HBB:c.234C>G | β | Causative | β-chain variant | NG_000007.3 | 70958 |
2422 | CD 78 CTG>GTG [Leu>Val] | Hb Ullevaal | HBB:c.235C>G | β | Causative | β-chain variant | NG_000007.3 | 70959 |
3299 | CD 77/78 (+C) | N/A | HBB:c.235dupC | β | Causative | β-thalassaemia | NG_000007.3 | 70959 |
182 | CD 78 CTG>-TG | N/A | HBB:c.235delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70959 |
3371 | CD 78 CTG>CCG [Leu>Pro] | Hb Penang | HBB:c.236T>C | β | Causative | β-chain variant | NG_000007.3 | 70960 |
1062 | CD 78 CTG>CGG | Hb Quin-Hai | HBB:c.236T>G | β | Causative | β-chain variant | NG_000007.3 | 70960 |
3225 | CD 78/85 (-20bp) | N/A | HBB:c.237_256delGGACAACCTCAAGGGCACCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70961 |
1063 | CD 79 GAC>CAC | Hb Tigraye | HBB:c.238G>C | β | Causative | β-chain variant | NG_000007.3 | 70962 |
1064 | CD 79 GAC>AAC | Hb Yaizu | HBB:c.238G>A | β | Causative | β-chain variant | NG_000007.3 | 70962 |
1065 | CD 79 GAC>TAC | Hb Tampa | HBB:c.238G>T | β | Causative | β-chain variant | NG_000007.3 | 70962 |
1066 | CD 79 GAC>GGC [Asp>Gly] | Hb G-Hsi-Tsou | HBB:c.239A>G | β | Causative | β-chain variant | NG_000007.3 | 70963 |
3310 | CD 79 GAC>GCC [Asp>Ala] | Hb Torbay | HBB:c.239A>C | β | Causative | β-chain variant | NG_000007.3 | 70963 |
3919 | CD 79 GAC>GAA [Asp>Glu] | Hb Kalundborg | HBB:c.240C>A | β | Causative | β-chain variant | NG_000007.3 | 70964 |
1067 | CD 80 AAC>TAC [Asn>Tyr] | Hb Hounslow | HBB:c.241A>T | β | Causative | β-chain variant | NG_000007.3 | 70965 |
2307 | CD 80 AAC>CAC [Asn>His] | Hb East Timor | HBB:c.241A>C | β | Causative | β-chain variant | NG_000007.3 | 70965 |
2391 | CD 80 AAC>GAC [Asn>Asp] | Hb Valley Park | HBB:c.241A>G | β | Causative | β-chain variant | NG_000007.3 | 70965 |
2445 | CD 80 -AAC [-Asn] | Hb Saint-Chamond | HBB:c.241_243delAAC | β | Causative | β-chain variant | NG_000007.3 | 70965 |
3392 | CD 80 AAC>AGC [Asn>Ser] | Hb Moncloa | HBB:c.242A>G | β | Causative | β-chain variant | NG_000007.3 | 70966 |
1068 | CD 80 AAC>AAG [Asn>Lys] (Hb Gifu) | Hb G-Szuhu | HBB:c.243C>G | β | Causative | β-chain variant | NG_000007.3 | 70967 |
2443 | CD 81 CTC>TTC [Leu>Phe] | Hb Seville | HBB:c.244C>T | β | Causative | β-chain variant | NG_000007.3 | 70968 |
183 | CD 80/81 (-C) | N/A | HBB:c.244delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70968 |
184 | CD 81-87 (-22 bp) | N/A | HBB:c.244_265del22 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70968 |
1069 | CD 81 CTC>CGC | Hb Baylor | HBB:c.245T>G | β | Causative | β-chain variant | NG_000007.3 | 70969 |
1070 | CD 81 CTC>CAC | Hb La Roche-sur-Yon | HBB:c.245T>A | β | Causative | β-chain variant | NG_000007.3 | 70969 |
1071 | CD 82 AAG>CAG | Hb Tsurumai | HBB:c.247A>C | β | Causative | β-chain variant | NG_000007.3 | 70971 |
1072 | CD 82 AAG>GAG | Hb Gàmbara | HBB:c.247A>G | β | Causative | β-chain variant | NG_000007.3 | 70971 |
1073 | CD 82 AAG>ACG | Hb Rahere | HBB:c.248A>C | β | Causative | β-chain variant | NG_000007.3 | 70972 |
1074 | CD 82 AAG>ATG | Hb Helsinki | HBB:c.248A>T | β | Causative | β-chain variant | NG_000007.3 | 70972 |
1075 | CD 82 AAG>AGG | Hb Taradale | HBB:c.248A>G | β | Causative | β-chain variant | NG_000007.3 | 70972 |
1076 | CD 82 AAG>AAC | Hb Providence | HBB:c.249G>C | β | Causative | β-chain variant | NG_000007.3 | 70973 |
1077 | CD 83 GGC>CGC [Gly>Arg] | Hb Muskegon | HBB:c.250G>C | β | Causative | β-chain variant | NG_000007.3 | 70974 |
1078 | CD 83 GGC>TGC [Gly>Cys] | Hb Ta-Li | HBB:c.250G>T | β | Causative | β-chain variant | NG_000007.3 | 70974 |
2534 | CD 83 GGC>AGC [Gly>Ser] | Hb Basking Ridge | HBB:c.250G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70974 |
1079 | CD 83 GGC>GAC | Hb Pyrgos | HBB:c.251G>A | β | Causative | β-chain variant | NG_000007.3 | 70975 |
185 | CD 82/83 (-G) | N/A | HBB:c.251delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70975 |
186 | CD 84-86 (-8 bp): (-CACCTTTG) | N/A | HBB:c.253_260del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70977 |
1080 | CD 84 ACC>GCC | Hb Saale | HBB:c.253A>G | β | Causative | β-chain variant | NG_000007.3 | 70977 |
1081 | CD 84 ACC>AAC [Thr>Asn] | Hb Beaujolais | HBB:c.254C>A | β | Causative | β-chain variant | NG_000007.3 | 70978 |
1082 | CD 84 ACC>ATC | Hb Kofu | HBB:c.254C>T | β | Causative | β-chain variant | NG_000007.3 | 70978 |
187 | CD 84/85 (+C) | N/A | HBB:c.255dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70979 |
3965 | CD 84-87 (-CTTTGCCACA) (+TTTTTCTCAG) (Hb Donguan-Dongcheng) | Hb Wanjiang | HBB:c.255_264delinsTTTTTCTCAG | β | Causative | β-chain variant | NG_000007.3 | 70979 |
3323 | CD 85 TTT>CTT [Phe>Leu] | Hb San Martin | HBB:c.256T>C | β | Causative | β-chain variant | NG_000007.3 | 70980 |
1083 | CD 85 TTT>TCT (Hb Bryn Mawr) | Hb Buenos Aires | HBB:c.257T>C | β | Causative | β-chain variant | NG_000007.3 | 70981 |
2975 | CD 85 TTT>TGT [Phe>Cys] | Hb Grantham | HBB:c.257T>G | β | Causative | β-chain variant | NG_000007.3 | 70981 |
3586 | CD 85 TTT>TTG [Phe>Leu] | Hb Kennisis | HBB:c.258T>G | β | Causative | β-chain variant | NG_000007.3 | 70982 |
188 | CD 84-86 (+T) | N/A | HBB:c.258dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70982 |
1084 | CD 86 GCC>CCC | Hb Cardarelli | HBB:c.259G>C | β | Causative | β-chain variant | NG_000007.3 | 70983 |
1085 | CD 86 GCC>ACC>ATC [Ala>Ile] | Hb Nebraska | HBB:c.[259G>A;260C>T] | β | Causative | β-chain variant | NG_000007.3 | 70983 |
3065 | CD 86 GCC>ACC [Ala>Thr] | Hb Seoul | HBB:c.259G>A | β | Causative | β-chain variant | NG_000007.3 | 70983 |
1086 | CD 86 GCC>GAC | Hb Olomouc | HBB:c.260C>A | β | Causative | β-chain variant | NG_000007.3 | 70984 |
2454 | CD 86 GCC>GTC [Ala>Val] | Hb Izmir | HBB:c.260C>T | β | Causative | β-chain variant | NG_000007.3 | 70984 |
3722 | CD 86 GCC>GC- | N/A | HBB:c.261delC | β | Causative | β-thalassaemia | NG_000007.3 | 70985 |
1087 | CD 87 (-ACA) | Hb Tours | HBB:c.262_264delACA | β | Causative | β-chain variant | NG_000007.3 | 70986 |
1088 | CD 87 ACA>CCA | Hb Valletta | HBB:c.262A>C | β | Causative | β-chain variant | NG_000007.3 | 70986 |
1089 | CD 87 ACA>ATA | Hb Quebec-Chori | HBB:c.263C>T | β | Causative | β-chain variant | NG_000007.3 | 70987 |
1090 | CD 87 ACA>AAA | Hb D-Ibadan | HBB:c.263C>A | β | Causative | β-chain variant | NG_000007.3 | 70987 |
3377 | CD 87 ACA>AGA [Thr>Arg] | Hb Saint Jean d Ardieres | HBB:c.263C>G | β | Causative | β-chain variant | NG_000007.3 | 70987 |
4044 | CD 87-91 (-14 bp) | N/A | HBB:c.263_276del | β | Causative | β-thalassaemia | NG_000007.3 | 70987 |
1091 | CD 88 CTG>GTG [Leu>Val] | Hb Oofuna | HBB:c.265C>G | β | Causative | β-chain variant | NG_000007.3 | 70989 |
3009 | CD 88 CTG>ATG [Leu>Met] | Hb NISER | HBB:c.265C>A | β | Causative | β-chain variant | NG_000007.3 | 70989 |
3253 | CD 88 CTG>--G (HBB:c.265_266delCT) | N/A | HBB:c.265_266del | β | Causative | β-thalassaemia | NG_000007.3 | 70989 |
1092 | CD 88 CTG>CGG | Hb Borås | HBB:c.266T>G | β | Causative | β-chain variant | NG_000007.3 | 70990 |
1093 | CD 88 CTG>CCG | Hb Santa Ana | HBB:c.266T>C | β | Causative | β-chain variant | NG_000007.3 | 70990 |
189 | CD 88 (+T) | N/A | HBB:c.266dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70990 |
190 | CD 88 (-TG) | N/A | HBB:c.266_267del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70990 |
3287 | CD 89-93 (-14bp): (-AGTGAGCTGCACTG) | N/A | HBB:c.268_281delAGTGAGCTGCACTG | β | Causative | β-thalassaemia | NG_000007.3 | 70992 |
1095 | CD 89 AGT>AAT | Hb Créteil | HBB:c.269G>A | β | Causative | β-chain variant | NG_000007.3 | 70993 |
1096 | CD 89 AGT>ACT | Hb Villaverde | HBB:c.269G>C | β | Causative | β-chain variant | NG_000007.3 | 70993 |
1094 | CD 89 AGT>AGR [Ser>Arg] | Hb Vanderbilt | HBB:c.270T>R | β | Causative | β-chain variant | NG_000007.3 | 70994 |
2965 | CD 89-90 (-TGAG) | Hb Wilde | HBB:c.270_273delTGAG | β | Causative | β-chain variant | NG_000007.3 | 70994 |
191 | CD 89/90 (AGTGAG>AGAG) | N/A | HBB:c.270_271del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70994 |
192 | CD 90 GAG>TAG | N/A | HBB:c.271G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70995 |
1097 | CD 90 GAG>AAG | Hb Agenogi | HBB:c.271G>A | β | Causative | β-chain variant | NG_000007.3 | 70995 |
1118 | CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp] | Hb Fairfax | HBB:c.271_285dupGAGCTGCACTGTGAC | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70995 |
2491 | CD 90 GAG>CAG [Glu>Gln] | Hb Henan | HBB:c.271G>C | β | Causative | β-chain variant | NG_000007.3 | 70995 |
3044 | CD 90 GAG>-AG | N/A | HBB:c.271delG | β | Causative | β-thalassaemia | NG_000007.3 | 70995 |
1098 | CD 90 GAG>GGG | Hb Roseau-Pointe a Pitre | HBB:c.272A>G | β | Causative | β-chain variant | NG_000007.3 | 70996 |
3057 | CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG) | N/A | HBB:c.272_295dup | β | Causative | β-thalassaemia | NG_000007.3 | 70996 |
3593 | CD 90 GAG>GCG [Glu>Ala] | Hb Shenzhen | HBB:c.272A>C | β | Causative | β-chain variant | NG_000007.3 | 70996 |
1099 | CD 90 GAG>GAC [Glu>Asp] | Hb Pierre-Bénite | HBB:c.273G>C | β | Causative | β-chain variant | NG_000007.3 | 70997 |
1124 | CD 95/96 (+15 bp) | Hb Koriyama | HBB:c.274_288dup | β | Causative | β-chain variant | NG_000007.3 | 70998 |
3133 | IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu] | N/A | HBB:c.[315+1G>A; 274C>T] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70998, 71040 |
1101 | CD 91 CTG>CCG | Hb Sabine | HBB:c.275T>C | β | Causative | β-chain variant | NG_000007.3 | 70999 |
1102 | CD 91 CTG>CGG | Hb Caribbean | HBB:c.275T>G | β | Causative | β-chain variant | NG_000007.3 | 70999 |
193 | CD 91 CTG>C-G | Hb Morgantown | HBB:c.275del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70999 |
194 | CD 91 (+T) | N/A | HBB:c.275dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70999 |
1103 | CD 92 CAC>GAC | Hb J-Altgeld Gardens | HBB:c.277C>G | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1104 | CD 92 CAC>TAC (Hb M-Akita, Hb M-Hyde Park) | Hb M-Milwaukee-2 | HBB:c.277C>T | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1105 | CD 92 CAC>AAC | Hb Redondo | HBB:c.277C>A | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1106 | CD 92 CAC>CCC | Hb Newcastle | HBB:c.278A>C | β | Causative | β-chain variant | NG_000007.3 | 71002 |
1107 | CD 92 CAC>CGC | Hb Mozhaisk | HBB:c.278A>G | β | Causative | β-chain variant | NG_000007.3 | 71002 |
1108 | CD 92 CAC>CCC; CD 104 AGG>AGC | Hb Duino | HBB:c.[278A>C;315G>C] | β | Causative | β-chain variant | NG_000007.3 | 71002, 71039 |
1109 | CD 92 CAC>CAG [His>Gln] (Hb Istanbul) | Hb Saint Etienne | HBB:c.279C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71003 |
1100 | CD 93-97 (-15 bp) | Hb Gun Hill | Hb GH | HBB:c.280_294delTGTGACAAGCTGCAC | β | Causative | β-chain variant | NG_000007.3 | 71004 |
1110 | CD 93 TGT>CGT: CD 121 GAA>CAA | Hb Cleveland | HBB:c.[280T>C;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 71004 |
1111 | CD 93 TGT>CGT | Hb Okazaki | HBB:c.280T>C | β | Causative | β-chain variant | NG_000007.3 | 71004 |
1112 | CD 93 TGT>TAT | Hb Fort Dodge | HBB:c.281G>A | β | Causative | β-chain variant | NG_000007.3 | 71005 |
2442 | CD 93 TGT>TCT [Cys>Ser] | Hb Riesa | HBB:c.281G>C | β | Causative | β-chain variant | NG_000007.3 | 71005 |
2441 | CD 93 TGT>TGG [Cys>Trp] | Hb Santa Giusta Sardegna | HBB:c.282T>G | β | Causative | β-chain variant | NG_000007.3 | 71006 |
195 | CD 93/94 (+TG) | Hb Agnana | HBB:c.282_283dupTG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71006 |
1114 | CD 94 GAC>TAC | Hb Geldrop St Anna | HBB:c.283G>T | β | Causative | β-chain variant | NG_000007.3 | 71007 |
1115 | CD 94 GAC>CAC | Hb Barcelona | HBB:c.283G>C | β | Causative | β-chain variant | NG_000007.3 | 71007 |
1116 | CD 94 GAC>AAC | Hb Bunbury | HBB:c.283G>A | β | Causative | β-chain variant | NG_000007.3 | 71007 |
1117 | CD 94 GAC>GGC | Hb Chandigarh | HBB:c.284A>G | β | Causative | β-chain variant | NG_000007.3 | 71008 |
1119 | CD 95 AAG>GAG (Hb Hopkins-I, Hb Jenkins, Hb N-Memphis, Hb Kenwood) | Hb N-Baltimore | HBB:c.286A>G | β | Causative | β-chain variant | NG_000007.3 | 71010 |
2545 | CD 95 AAG>CAG [Lys>Gln] | Hb J-Valencia | HBB:c.286A>C | β | Causative | β-chain variant | NG_000007.3 | 71010 |
1120 | CD 95 AAG>ATG | Hb J-Cordoba | HBB:c.287A>T | β | Causative | β-chain variant | NG_000007.3 | 71011 |
196 | CD 95 (+A) | N/A | HBB:c.287dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71011 |
1121 | CD 95 AAG>AAY [Lys>Asn] | Hb Detroit | HBB:c.288G>Y | β | Causative | β-chain variant | NG_000007.3 | 71012 |
1122 | CD 96 CTG>GTG | Hb Regina | HBB:c.289C>G | β | Causative | β-chain variant | NG_000007.3 | 71013 |
1123 | CD 96 CTG>CCG | Hb Debrousse | HBB:c.290T>C | β | Causative | β-chain variant | NG_000007.3 | 71014 |
3876 | CD 96 CTG>CGG [Leu>Arg] | Hb Laibin | HBB:c.290T>G | β | Causative | β-chain variant | NG_000007.3 | 71014 |
3888 | CD 97/98 (+GCAC) | N/A | HBB:c.291_294dup | β | Causative | β-thalassaemia | NG_000007.3 | 71015 |
1126 | CD 97 CAC>TAC | Hb Moriguchi | HBB:c.292C>T | β | Causative | β-chain variant | NG_000007.3 | 71016 |
1127 | CD 97 CAC>AAC | Hb Santa Clara | HBB:c.292C>A | β | Causative | β-chain variant | NG_000007.3 | 71016 |
1125 | CD 97/98 (-ACG) | Hb Galicia | HBB:c.293_295delACG | β | Causative | β-chain variant | NG_000007.3 | 71017 |
1128 | CD 97 CAC>CTC | Hb Wood | HBB:c.293A>T | β | Causative | β-chain variant | NG_000007.3 | 71017 |
1129 | CD 97 CAC>CCC | Hb Nagoya | HBB:c.293A>C | β | Causative | β-chain variant | NG_000007.3 | 71017 |
1130 | CD 97 CAC>CAA, also CAC>CAG | Hb Malmö | HBB:c.294C>A | HBB:c.294C>G | β | Causative | β-chain variant | NG_000007.3 | 71018 |
1131 | CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1) | Hb Köln | HBB:c.295G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71019 |
2413 | CD 98 GTG>CTG [Val>Leu] | Hb Phou Bia | HBB:c.295G>C | β | Causative | β-chain variant | NG_000007.3 | 71019 |
1132 | CD 98 GTG>GGG | Hb Nottingham | HBB:c.296T>G | β | Causative | β-chain variant | NG_000007.3 | 71020 |
1133 | CD 98 GTG>GAG [Val>Glu] | Hb Mainz | HBB:c.296T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71020 |
1134 | CD 98 GTG>GCG | Hb Djelfa | HBB:c.296T>C | β | Causative | β-chain variant | NG_000007.3 | 71020 |
2966 | CD 98/99 (+TG) | Hb Patagonia | HBB:c.296_297dup | β | Causative | β-chain variant | NG_000007.3 | 71020 |
1135 | CD 99 GAT>TAT | Hb Ypsilanti | HBB:c.298G>T | β | Causative | β-chain variant | NG_000007.3 | 71022 |
1136 | CD 99 GAT>CAT | Hb Yakima | HBB:c.298G>C | β | Causative | β-chain variant | NG_000007.3 | 71022 |
1137 | CD 99 GAT>AAT | Hb Kempsey | HBB:c.298G>A | β | Causative | β-chain variant | NG_000007.3 | 71022 |
1138 | CD 99 GAT>GGT | Hb Hotel-Dieu | HBB:c.299A>G | β | Causative | β-chain variant | NG_000007.3 | 71023 |
1139 | CD 99 GAT>GCT | Hb Radcliffe | HBB:c.299A>C | β | Causative | β-chain variant | NG_000007.3 | 71023 |
1140 | CD 99 GAT>GTT | Hb Chemilly | HBB:c.299A>T | β | Causative | β-chain variant | NG_000007.3 | 71023 |
1141 | CD 99 GAT>GAA [Asp>Glu] | Hb Coimbra | HBB:c.300T>A | β | Causative | β-chain variant | NG_000007.3 | 71024 |
1142 | CD 100 CCT>GCT [Pro>Ala] | Hb Nice | HBB:c.301C>G | β | Causative | β-chain variant | NG_000007.3 | 71025 |
2399 | CD 100 CCT>ACT [Pro>Thr] | Hb Bellevue II | HBB:c.301C>A | β | Causative | β-chain variant | NG_000007.3 | 71025 |
2412 | CD 100 CCT>TCT [Pro>Ser] | Hb Niort | HBB:c.301C>T | β | Causative | β-chain variant | NG_000007.3 | 71025 |
198 | CD 100 (-CC,+TCTGAGAACTT) >158aa | N/A | HBB:c.301_302delCCinsTCTGAGAACTT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71025 |
1143 | CD 100 CCT>CGT | Hb New Mexico | HBB:c.302C>G | β | Causative | β-chain variant | NG_000007.3 | 71026 |
1144 | CD 100 CCT>CTT | Hb Brigham | HBB:c.302C>T | β | Causative | β-chain variant | NG_000007.3 | 71026 |
1145 | CD 101 GAG>CAG | Hb Rush | HBB:c.304G>C | β | Causative | β-chain variant | NG_000007.3 | 71028 |
1146 | CD 101 GAG>AAG | Hb British Columbia | HBB:c.304G>A | β | Causative | β-chain variant | NG_000007.3 | 71028 |
1147 | CD 101 GAG>GGG | Hb Alberta | HBB:c.305A>G | β | Causative | β-chain variant | NG_000007.3 | 71029 |
1148 | CD 101 GAG>GCG | Hb Youngstown | Hb St Mary's | HBB:c.305A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71029 |
2432 | CD 101 GAG>GTG [Glu>Val] | Hb Belfort | HBB:c.305A>T | β | Causative | β-chain variant | NG_000007.3 | 71029 |
1149 | CD 101 GAG>GAC or GAT | Hb Potomac | HBB:c.306G>C | HBB:c.306G>T | β | Causative | β-chain variant | NG_000007.3 | 71030 |
1150 | CD 102 AAC>TAC | Hb Saint Mandé | HBB:c.307A>T | β | Causative | β-chain variant | NG_000007.3 | 71031 |
1151 | CD 102 AAC>CAC [Asn>His] | Hb Canebiere | HBB:c.307A>C | β | Causative | β-chain variant | NG_000007.3 | 71031 |
1152 | CD 102 AAC>AGC | Hb Beth Israel | HBB:c.308A>G | β | Causative | β-chain variant | NG_000007.3 | 71032 |
1153 | CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann) | Hb Kansas | HBB:c.308A>C | β | Causative | β-chain variant | NG_000007.3 | 71032 |
2279 | CD 102 AAC>ATCAC | N/A | HBB:c.308insTC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71032 |
1154 | CD 102 AAC>AAA or AAG | Hb Richmond | HBB:c.309C>A | HBB:c.309C>G | β | Causative | β-chain variant | NG_000007.3 | 71033 |
1155 | CD 103 TTC>GTC | Hb Sparta | HBB:c.310T>G | β | Causative | β-chain variant | NG_000007.3 | 71034 |
1156 | CD 103 TTC>ATC | Hb Saint Nazaire | HBB:c.310T>A | β | Causative | β-chain variant | NG_000007.3 | 71034 |
3385 | CD 103 TTC>TAC [Phe>Tyr] | Hb Gavle | HBB:c.311T>A | β | Causative | β-chain variant | NG_000007.3 | 71035 |
4114 | CD 103 TTC>TCC [Phe>Ser] | Hb Koskullskulle | HBB:c.311T>C | β | Causative | β-chain variant | NG_000007.3 | 71035 |
1157 | CD 103 TTC>TTG | Hb Heathrow | HBB:c.312C>G | β | Causative | β-chain variant | NG_000007.3 | 71036 |
1158 | CD 104 AGG>TGG | Hb Sainte Eugénie | HBB:c.313A>T | β | Causative | β-chain variant | NG_000007.3 | 71037 |
2406 | CD 104 AGG>GGG [Arg>Gly] | Hb Nîmes | HBB:c.313A>G | β | Causative | β-chain variant | NG_000007.3 | 71037 |
3636 | CD 104 (-A) | N/A | HBB:c.313delA | β | Causative | β-thalassaemia | NG_000007.3 | 71037 |
1159 | CD 104 AGG>ACG | Hb Sherwood Forest | HBB:c.314G>C | β | Causative | β-chain variant | NG_000007.3 | 71038 |
1161 | CD 104 AGG>AAG | Hb Alzette | HBB:c.314G>A | β | Causative | β-chain variant | NG_000007.3 | 71038 |
2411 | CD 104 AGG>ATG [Arg>Met] | Hb Bad Salzuflen | HBB:c.314G>T | β | Causative | β-chain variant | NG_000007.3 | 71038 |
1162 | CD 104 AGG>AGC [Arg>Ser] | Hb Camperdown | HBB:c.315G>C | β | Causative | β-chain variant | NG_000007.3 | 71039 |
199 | IVS II-1 (-G) | N/A | HBB:c.315+1delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
200 | IVS II-1 G>A | N/A | HBB:c.315+1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
201 | IVS II-1 G>C | N/A | HBB:c.315+1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
202 | IVS II-1 G>T | N/A | HBB:c.315+1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
203 | IVS II-2 T>C | N/A | HBB:c.315+2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
204 | IVS II-2 (T>A) | N/A | HBB:c.315+2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
205 | IVS II-2 (-T) | N/A | HBB:c.315+2del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
206 | IVS II-2/3 (-2 bp, +11 bp) (IVS II-2,3 (+11/-2)) | N/A | HBB:c.315+2_315+3delinsACGTTCTCTGA | β | Causative | β-thalassaemia | NG_000007.3 | 71041 |
2182 | IVS II-2 -TGAGTCTATGGG | N/A | HBB:c.315+2_315+13delTGAGTCTATGGG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
3226 | IVS II-2 T>G | N/A | HBB:c.315+2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
207 | IVS II 4/5 -AG | N/A | NG_000007.3:g.71043_71044delAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71043 |
208 | IVS II-5 (G>C) | N/A | HBB:c.315+5G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71044 |
3677 | IVS II-15 (C>T) | N/A | HBB:c.315+15C>T | β | Causative | β-thalassaemia | NG_000007.3 | 71054 |
3678 | IVS II-45 (A>G) | N/A | HBB:c.315+45A>G | β | Causative | β-thalassaemia | NG_000007.3 | 71084 |
3681 | IVS II-63 (T>C) | N/A | HBB:c.315+63T>C | β | Causative | β-thalassaemia | NG_000007.3 | 71102 |
3680 | IVS II-70 (G>A) | N/A | HBB:c.315+70G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71109 |
3679 | IVS II-129 (G>A) | N/A | HBB:c.315+129G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71168 |
3977 | IVS II-132 G>C | N/A | HBB:c.315+132G>C | β | Causative | β-thalassaemia | NG_000007.3 | 71171 |
4040 | IVS II-143 G>A | N/A | HBB:c.315+143G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71182 |
3682 | IVS II-180 (T>C) | N/A | HBB:c.315+180T>C | β | Causative | β-thalassaemia | NG_000007.3 | 71219 |
3683 | IVS II-308 (-A) | N/A | HBB:c.315+308delA | β | Causative | β-thalassaemia | NG_000007.3 | 71347 |
4046 | IVS II-337 A>G | N/A | HBB:c.315+337A>G | β | Causative | β-thalassaemia | NG_000007.3 | 71376 |
3996 | 4.9 Kb deletion (NG_000007.3:g.71429_76331del) | N/A | NC_000011.10:g.5226187_5231089del | β | Causative | β-thalassaemia, Ineffective erythropoiesis | NG_000007.3 | 71429 |
3797 | IVS II-509 (-A) | N/A | HBB:c.316-342delA | β | Causative | β-thalassaemia | NG_000007.3 | 71548 |
209 | IVS II-535 - CD 108 (+23, -310, +28) | Hb Jambol | HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71590 |
286 | 619 bp deletion (Asian Indian) | N/A | NG_000007.3:g.71609_72227del619 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71609 |
210 | IVS II-613 (C>T) | N/A | HBB:c.316-238C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71652 |
3391 | IVS II-648/649 (-T) | N/A | HBB:c.316-202del | β | Causative | β-thalassaemia | NG_000007.3 | 71688 |
211 | IVS II-654 C>T | N/A | HBB:c.316-197C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71693 |
3866 | IVS II-659_664 (-GCAATA) | N/A | HBB:c.316-192_187del | β | Causative | β-thalassaemia | NG_000007.3 | 71698 |
3686 | IVS II-672 (A>C) | N/A | HBB:c.316-179A>C | β | Causative | β-thalassaemia | NG_000007.3 | 71711 |
212 | IVS II-705 (T>G) | N/A | HBB:c.316-146T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71744 |
3796 | IVS II-716 (+T) | N/A | HBB:c.316-135dupT | β | Causative | β-thalassaemia | NG_000007.3 | 71755 |
213 | IVS II-726 A>G | N/A | HBB:c.316-125A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71765 |
214 | IVS II-745 C>G | N/A | HBB:c.316-106C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71784 |
3928 | IVS II-752 T>G | N/A | HBB:c.316-99T>G | β | Causative | β-thalassaemia | NG_000007.3 | 71791 |
2200 | IVS II-765 L1 insertion (+CTGCTTTTATTTT) | N/A | HBB:c.316-98_316-86dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71792 |
215 | IVS II-761 A>G | N/A | HBB:c.316-90A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71800 |
2183 | IVS II-781 C>G | N/A | HBB:c.316-70C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71820 |
4088 | IVS II-786 T>A | N/A | HBB:c.316-65T>A | β | Causative | β-thalassaemia | NG_000007.3 | 71825 |
3687 | IVS II-806 (G>C) | N/A | HBB:c.316-45G>C | β | Causative | β-thalassaemia | NG_000007.3 | 71845 |
3616 | IVS II-809 (-G) | N/A | HBB:c.316-42delG | β | Causative | β-thalassaemia | NG_000007.3 | 71848 |
216 | IVS II-815 (C>T) | N/A | HBB:c.316-36C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71854 |
3558 | IVS II-821 (A>C) | N/A | HBB:c.316-30A>C | β | Causative | β-thalassaemia | NG_000007.3 | 71860 |
217 | IVS II-837 (T>G) | N/A | HBB:c.316-14T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71876 |
218 | IVS II-843 (T>G) | N/A | HBB:c.316-8T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71882 |
219 | IVS II-844 (C>A) | N/A | HBB:c.316-7C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71883 |
220 | IVS II-844 (C>G) | N/A | HBB:c.316-7C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71883 |
221 | IVS II-848 (C>A) | N/A | HBB:c.316-3C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71887 |
222 | IVS II-848 (C>G) | N/A | HBB:c.316-3C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71887 |
3045 | IVS II-848 C>T | N/A | HBB: c.316-3C>T | β | Causative | β-thalassaemia | NG_000007.3 | 71887 |
223 | IVS II-849 (A>G) | N/A | HBB:c.316-2A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71888 |
224 | IVS II-849 (A>C) | N/A | HBB:c.316-2A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71888 |
225 | IVS II-850 G>C | N/A | HBB:c.316-1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
226 | IVS II-850 (G>A) | N/A | HBB:c.316-1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
227 | IVS II-850 (G>T) | N/A | HBB:c.316-1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
228 | IVS II-850 (-G) | N/A | HBB:c.316-1delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
1163 | CD 105 CTC>TTC | Hb South Milwaukee | HBB:c.316C>T | β | Causative | β-chain variant | NG_000007.3 | 71890 |
4100 | CD 105 CTC>GTC [Leu>Val] | Hb Odder | HBB:c.316C>G | β | Causative | β-chain variant | NG_000007.3 | 71890 |
2379 | CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro] | Hb S-San Martin | HBB:c.[20A>T ;317T>C] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71891 |
2404 | CD 105 CTC>CCC [Leu>Pro] | Hb Bellevue IV | HBB:c.317T>C | β | Causative | β-chain variant | NG_000007.3 | 71891 |
229 | CD 106 (CTG >GTG) Leu to Val (Hb Federico II) | Hb L'Aquila | HBB:c.319C>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71893 |
230 | CD 106 CTG>CGG [Leu>Arg] | Hb Terre Haute | HBB:c.320T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71894 |
1166 | CD 106 CTG>CCG [Leu>Pro] (Hb Casper) | Hb Southampton | HBB:c.320T>C | β | Causative | β-chain variant | NG_000007.3 | 71894 |
1167 | CD 106 CTG>CAG | Hb Tübingen | HBB:c.320T>A | β | Causative | β-chain variant | NG_000007.3 | 71894 |
1168 | CD 107 GGC>CGC | Hb Burke | HBB:c.322G>C | β | Causative | β-chain variant | NG_000007.3 | 71896 |
1169 | CD 107 GGC>GAC | Hb Lulu Island | HBB:c.323G>A | β | Causative | β-chain variant | NG_000007.3 | 71897 |
2191 | CD 107-111 (-12 bp): (-GCAACGTGCTGG) | N/A | HBB:c.323_334del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71897 |
3309 | CD 107 GGC>GTC [Gly>Val] | Hb Nurnberg | HBB:c.323G>T | β | Causative | β-chain variant | NG_000007.3 | 71897 |
231 | CD 107 (+G) | N/A | HBB:c.323dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71897 |
1170 | CD 108 AAC>GAC | Hb Yoshizuka | HBB:c.325A>G | β | Causative | β-chain variant | NG_000007.3 | 71899 |
1171 | CD 108 AAC>CAC [Asn>His] | Hb Shizuoka | HBB:c.325A>C | β | Causative | β-chain variant | NG_000007.3 | 71899 |
1172 | CD 108 AAC>ATC | Hb Schlierbach | HBB:c.326A>T | β | Causative | β-chain variant | NG_000007.3 | 71900 |
1173 | CD 108 AAC>AGC [Asn>Ser] (Hb Serres) | Hb Santa Juana | HBB:c.326A>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71900 |
232 | CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser | N/A | HBB:c.326_337delACGTGCTGGTCT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71900 |
1174 | CD 108 AAC>AAA or AAG | Hb Presbyterian | HBB:c.327C>A | HBB:c.327C>G | β | Causative | β-chain variant | NG_000007.3 | 71901 |
1176 | CD 109 GTG>CTG or TTG | Hb Johnstown | HBB:c.328G>C | HBB:c.328G>T | β | Causative | β-chain variant | NG_000007.3 | 71902 |
1177 | CD 109 GTG>ATG | Hb San Diego | HBB:c.328G>A | β | Causative | β-chain variant | NG_000007.3 | 71902 |
233 | CD 109 (-G) >156aa | Hb Manhattan | HBB:c.328delG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71902 |
4064 | CD109/110 (-GCT +CAGCACGATG) | N/A | HBB:c.330_332delinsCAGCACGATG | β | Causative | β-thalassaemia | NG_000007.3 | 71904 |
3384 | CD 110 CTG>CGG [Leu>Arg] | Hb London-Ontario | HBB:c.332T>G | β | Causative | β-chain variant | NG_000007.3 | 71906 |
234 | CD 110 CTG>CCG [Leu>Pro] | Hb Showa-Yakushiji | HBB:c.332T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71906 |
1179 | CD 111 GTC>CTC, CD 119 GGC>GAC | Hb Fannin-Lubbock II | HBB:c.[334G>C;359G>A] | β | Causative | β-chain variant | NG_000007.3 | 71908 |
1180 | CD 111 GTC>TTC [Val>Phe] | Hb Peterborough | HBB:c.334G>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71908 |
1181 | CD 111 GTC>GCC [Val>Ala] | Hb Stanmore | HBB:c.335T>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71909 |
3001 | CD 111 GTC>GGC [Val>Gly] | Hb Belluno | HBB:c.335T>G | β | Causative | β-chain variant | NG_000007.3 | 71909 |
3024 | CD 111-115 (-12bp): (-TCTGTGTGCTGG) | N/A | HBB:c.335_346del | β | Causative | β-thalassaemia | NG_000007.3 | 71909 |
4075 | CD 111/112 (+C) | N/A | HBB:c.336dup | β | Causative | β-thalassaemia | NG_000007.3 | 71910 |
1182 | CD 112 TGT>CGT [Cys>Arg] | Hb Indianapolis | HBB:c.337T>C | β | Causative | β-chain variant | NG_000007.3 | 71911 |
2434 | CD 112 TGT>GGT [Cys>Gly] | Hb Saint-Marcellin | HBB:c.337T>G | β | Causative | β-chain variant | NG_000007.3 | 71911 |
1183 | CD 112 TGT>TTT | Hb Canterbury | HBB:c.338G>T | β | Causative | β-chain variant | NG_000007.3 | 71912 |
1184 | CD 112 TGT>TAT | Hb Yahata | HBB:c.338G>A | β | Causative | β-chain variant | NG_000007.3 | 71912 |
1195 | CD 112-116 (+GTGTGCTGGCCC) | Hb Antibes-Juan-Les-Pins | HBB:c.338_349dupGTGTGCTGGCCC | β | Causative | β-chain variant | NG_000007.3 | 71912 |
4105 | CD112 TGT>TCT [Cys>Ser] | Hb Jiangxi | HBB:c.338G>C | β | Causative | β-chain variant | NG_000007.3 | 71912 |
235 | CD 112 (TGT>TGA) | N/A | HBB:c.339T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71913 |
1185 | CD 112 TGT>TGG | Hb Toranomon | HBB:c.339T>G | β | Causative | β-chain variant | NG_000007.3 | 71913 |
2192 | CD 114/115 (+TGTGCTG) | N/A | HBB:c.339_345dupTGTGCTG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71913 |
1186 | CD 113 GTG>CTG or TTG [Val>Leu] | Hb Champagne | HBB:c.340G>C | HBB:c.340G>T | β | Causative | β-chain variant | NG_000007.3 | 71914 |
236 | CD 113 (-G) >156aa | N/A | HBB:c.340delG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71914 |
1187 | CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung) | Hb New York | HBB:c.341T>A | β | Causative | β-chain variant | NG_000007.3 | 71915 |
1188 | CD 114 CTG>ATG; CD 119 GGC>GAC | Hb Masuda | HBB:c.[343C>A;359G>A] | β | Causative | β-chain variant | NG_000007.3 | 71917 |
1190 | CD 114 CTG>ATG | Hb Zengcheng | HBB:c.343C>A | β | Causative | β-chain variant | NG_000007.3 | 71917 |
238 | CD 114 (-CT, +G) >156aa | Hb Geneva | HBB:c.343_344delinsG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71917 |
237 | CD 114 CTG>CCG [Leu>Pro] (Hb Brescia) | Hb Durham-N.C. | HBB:c.344T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71918 |
3750 | CD 115 GCC>ACC [Ala>Thr] | N/A | HBB:c.346G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71920 |
1192 | CD 115 GCC>CCC | Hb Madrid | HBB:c.346G>C | β | Causative | β-chain variant | NG_000007.3 | 71920 |
1193 | CD 115 GCC>GTC [Ala>Val] | Hb Roma | HBB:c.347C>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71921 |
239 | CD 115 (GCC>GAC) Ala to Asp | Hb Hradec Kralove (HK) | HBB:c.347C>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71921 |
3308 | CD 115-116 (-CC, +G) >156aa | Hb Grand Junction | HBB:c.348_349delinsG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 71922 |
1196 | CD 116 CAT>TAT | Hb Rhode Island | HBB:c.349C>T | β | Causative | β-chain variant | NG_000007.3 | 71923 |
3228 | CD 116 CAT>-AT | N/A | HBB:c.349del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71923 |
1197 | CD 116 CAT>CCT [His>Pro] | Hb Miami | HBB:c.350A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71924 |
1198 | CD 116 CAT>CGT [His>Ala] | Hb Sfax | HBB:c.350A>G | β | Causative | β-chain variant | NG_000007.3 | 71924 |
1199 | CD 116 CAT>CTT | Hb Vexin | HBB:c.350A>T | β | Causative | β-chain variant | NG_000007.3 | 71924 |
240 | CD 116 (+TGAT) | N/A | HBB:c.349_350insTGAT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71924 |
1200 | CD 116 CAT>CAA or CAG | Hb Hafnia | HBB:c.351T>A | HBB:c.351T>G | β | Causative | β-chain variant | NG_000007.3 | 71925 |
1201 | CD 117 CAC>AAC | Hb Brent | HBB:c.352C>A | β | Causative | β-chain variant | NG_000007.3 | 71926 |
1202 | CD 117 CAC>TAC | Hb Tsukumi | HBB:c.352C>T | β | Causative | β-chain variant | NG_000007.3 | 71926 |
1203 | CD 117 CAC>GAC [His>Asp] | Hb North York | HBB:c.352C>G | β | Causative | β-chain variant | NG_000007.3 | 71926 |
1204 | CD 117 CAC>CGC | Hb P-Galveston | HBB:c.353A>G | β | Causative | β-chain variant | NG_000007.3 | 71927 |
1205 | CD 117 CAC>CCC | Hb Saitama | HBB:c.353A>C | β | Causative | β-chain variant | NG_000007.3 | 71927 |
2193 | CD 117 -C | N/A | HBB:c.354delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71928 |
3651 | CD 117 CAC>CAG [His>Gln] | Hb Murcia | HBB:c.354C>G | β | Causative | β-chain variant | NG_000007.3 | 71928 |
1207 | CD 118 TTT>GTT | Hb Sodertalje | HBB:c.355T>G | β | Causative | β-chain variant | NG_000007.3 | 71929 |
1208 | CD 118 TTT>TGT | Hb Harrow | HBB:c.356T>G | β | Causative | β-chain variant | NG_000007.3 | 71930 |
1209 | CD 118 TTT>TAT | Hb Minneapolis-Laos | HBB:c.356T>A | β | Causative | β-chain variant | NG_000007.3 | 71930 |
2334 | CD 118 TTT>TCT [Phe>Ser] | Hb Basingstoke | HBB:c.356T>C | β | Causative | β-chain variant | NG_000007.3 | 71930 |
3846 | CD 118 (-TT) | N/A | HBB:c.356_357delTT | β | Causative | β-thalassaemia | NG_000007.3 | 71930 |
241 | CD 118 (-T) > 156aa | Hb Sainte Seve | HBB:c.357delT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71931 |
4113 | CD 119-121 (+8 bp) | Hb Nanjing | HBB:c.358_365dup | β | Causative | β-thalassaemia | NG_000007.3 | 71932 |
2410 | CD 119 GGC>CGC [Gly>Arg] | Hb Angouleme | HBB:c.358G>C | β | Causative | β-chain variant | NG_000007.3 | 71932 |
2490 | CD 119 GGC>AGC [Gly>Ser] | Hb Madison-NC | HBB:c.358G>A | β | Causative | β-chain variant | NG_000007.3 | 71932 |
1210 | CD 119 GGC>GAC [Gly>Asp] | Hb Fannin-Lubbock I | HBB:c.359G>A | β | Causative | β-chain variant | NG_000007.3 | 71933 |
1211 | CD 119 GGC>GTC | Hb Bougardirey-Mali | HBB:c.359G>T | β | Causative | β-chain variant | NG_000007.3 | 71933 |
1212 | CD 119 GGC>GCC | Hb Iowa | HBB:c.359G>C | β | Causative | β-chain variant | NG_000007.3 | 71933 |
1213 | CD 120 AAA>GAA | Hb Hijiyama | HBB:c.361A>G | β | Causative | β-chain variant | NG_000007.3 | 71935 |
1214 | CD 120 AAA>CAA | Hb Takamatsu | HBB:c.361A>C | β | Causative | β-chain variant | NG_000007.3 | 71935 |
1215 | CD 120 AAA>ATA | Hb Jianghua | HBB:c.362A>T | β | Causative | β-chain variant | NG_000007.3 | 71936 |
1216 | CD 120 AAA>AAC | Hb Riyadh | HBB:c.363A>C | β | Causative | β-chain variant | NG_000007.3 | 71937 |
2973 | CD 120 AAA>AAT [Lys>Asn] | Hb Belsize Park | HBB:c.363A>T | β | Causative | β-chain variant | NG_000007.3 | 71937 |
242 | CD 120 -A [156 aa] (CD 120 AAA>AA-) | Hb Filottrano | HBB:c.363delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71937 |
243 | CD 120/121 (+A) | N/A | HBB:c.363dupA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71937 |
244 | CD 121 GAA>TAA (120aa) | N/A | HBB:c.364G>T | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71938 |
1217 | CD 121 GAA>CAA [Glu>Gln] (Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal, Hb D-Los Angeles, Hb Oak Ridge) | Hb D-Punjab | HBB:c.364G>C | β | Causative | β-chain variant | NG_000007.3 | 71938 |
1218 | CD 121 GAA>AAA (Hb Egypt, Hb O-Thrace) | Hb O-Arab | HBB:c.364G>A | β | Causative | β-chain variant | NG_000007.3 | 71938 |
1219 | CD 121 GAA>GCA | Hb D-Neath | HBB:c.365A>C | β | Causative | β-chain variant | NG_000007.3 | 71939 |
1220 | CD 121 GAA>GGA | Hb St. Francis | HBB:c.365A>G | β | Causative | β-chain variant | NG_000007.3 | 71939 |
1221 | CD 121 GAA>GTA | Hb Beograd | HBB:c.365A>T | β | Causative | β-chain variant | NG_000007.3 | 71939 |
3934 | CD 121 GAA>GAC [Glu>Asp] | Hb Westport | HBB:c.366A>C | β | Causative | β-chain variant | NG_000007.3 | 71940 |
1015 | CD 65 AAG>ATG; CD 122 TTC>CTC or TTG or TTA | Hb Casablanca | HBB:c.[367T>C ; 197A>T] | HBB:c.[369C>A ; 197A>T] | HBB:c.[369C>G; 197A>T] | β | Causative | β-chain variant | NG_000007.3 | 71941 |
1222 | CD 122 TTC>CTC or TTG or TTA | Hb Bushey | HBB:c.367T>C | HBB:c.369C>A | HBB:c.369C>G | β | Causative | β-chain variant | NG_000007.3 | 71941 |
1223 | CD 122 TTC>TCC [Phe>Ser] | Hb Caruaru | HBB:c.368T>C | β | Causative | β-chain variant | NG_000007.3 | 71942 |
4022 | CD 122 TTC>TGC [Phe>Cys] | Hb Tanah Merah | HBB:c.368T>G | β | Causative | β-chain variant | NG_000007.3 | 71942 |
245 | CD 123 (-A) >156aa | Hb Makabe | HBB:c.370delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71944 |
246 | CD 123-125 (-ACCCCACC) >135aa | Hb Khon Kaen | HBB:c.370_378delACCCCACCA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71944 |
1225 | CD 123 ACC>AAC | Hb Ernz | HBB:c.371C>A | β | Causative | β-chain variant | NG_000007.3 | 71945 |
1226 | CD 123 ACC>ATC | Hb Villejuif | HBB:c.371C>T | β | Causative | β-chain variant | NG_000007.3 | 71945 |
1227 | CD 124 CCA>TCA | Hb Tunis | HBB:c.373C>T | β | Causative | β-chain variant | NG_000007.3 | 71947 |
3556 | CD 124 CCA>ACA [Pro>Thr] (Hb Yuxi) | Hb Gibbon | HBB:c.373C>A | β | Causative | β-chain variant | NG_000007.3 | 71947 |
3555 | CD 124 (+C) | N/A | HBB:c.374dup | β | Causative | β-thalassaemia, Haemolytic anaemia | NG_000007.3 | 71948 |
4065 | CD 124 (-C) | N/A | HBB:c.374delC | β | Causative | α-thalassaemia | NG_000007.3 | 71948 |
1228 | CD 124 CCA>CAA | Hb Ty Gard | HBB:c.374C>A | β | Causative | β-chain variant | NG_000007.3 | 71948 |
1229 | CD 124 CCA>CTA | Hb Tende | HBB:c.374C>T | β | Causative | β-chain variant | NG_000007.3 | 71948 |
1230 | CD 124 CCA>CGA [Pro>Arg] | Hb Khartoum | HBB:c.374C>G | β | Causative | β-chain variant | NG_000007.3 | 71948 |
2194 | CD 124/125 (+A) | N/A | HBB:c.375dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71949 |
247 | CD 124 (-A) >156aa | N/A | HBB:c.375delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71949 |
248 | CD 125 (+CCA) | N/A | HBB:c.376_378dupCCA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71950 |
3227 | CD 125-126 (+CCAGT) | N/A | HBB:c.376_380dupCCAGT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71950 |
3313 | CD 125 CCA>ACA [Pro>Thr] | Hb Novara | HBB:c.376C>A | β | Causative | β-chain variant | NG_000007.3 | 71950 |
2195 | CD 125-127 (-CAGTGC) | N/A | HBB:c.377_382delCAGTGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71951 |
249 | CD 125 (-A) >156aa | N/A | HBB:c.378delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71952 |
1231 | CD 126 GTG>CTG | Hb Molfetta | HBB:c.379G>C | β | Causative | β-chain variant | NG_000007.3 | 71953 |
3563 | CD 126 GTG>-TG | N/A | HBB:c.379delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71953 |
250 | CD 126 (-T) >156aa | Hb Vercelli | HBB:c.380delT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71954 |
252 | CD 126-131 (-17 bp) | Hb Westdale | HBB:c.380_396delTGCAGGCTGCCTATCAG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 71954 |
1233 | CD 126 GTG>GCG | Hb Beirut | HBB:c.380T>C | β | Causative | β-chain variant | NG_000007.3 | 71954 |
1234 | CD 126 GTG>GAG | Hb Hofu | HBB:c.380T>A | β | Causative | β-chain variant | NG_000007.3 | 71954 |
1235 | CD 126 GTG>GGG [Val>Gly] (Hb Neapolis) | Hb Dhonburi | HBB:c.380T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71954 |
1236 | CD 127 CAG>AAG | Hb Brest | HBB:c.382C>A | β | Causative | β-chain variant | NG_000007.3 | 71956 |
1237 | CD 127 CAG>GAG | Hb Complutense | HBB:c.382C>G | β | Causative | β-chain variant | NG_000007.3 | 71956 |
4087 | CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG) | N/A | HBB:c.382_402del | β | Causative | β-thalassaemia | NG_000007.3 | 71956 |
255 | CD 127 CAG>TAG [Gln>STOP] | N/A | HBB:c.382C>T | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71956 |
253 | CD 127 (CAG>CCG) Gln to Pro | Hb Houston | HBB:c.383A>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
254 | CD 127 CAG>CGG [Gln>Arg] | Hb Dieppe | HBB:c.383A>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
256 | CD 127/128 -AGG [Glu-Ala>Pro] | Hb Gunma | HBB:c.383_385delAGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
257 | CD 128/129 (-4, +5, -11 bp) >153aa | N/A | HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
1241 | CD 128 GCT>CCT | Hb Mont Saint Aignan | HBB:c.385G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
3927 | CD 128 GCT>-CT | N/A | HBB:c.385delG | β | Causative | β-thalassaemia | NG_000007.3 | 71959 |
1242 | CD 128 GCT>GTT | Hb Sitia | HBB:c.386C>T | β | Causative | β-chain variant | NG_000007.3 | 71960 |
1243 | CD 128 GCT>GAT [Ala>Asp] | Hb J-Guantanamo | HBB:c.386C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71960 |
1244 | CD 129 GCC>CCC | Hb Crete | HBB:c.388G>C | β | Causative | β-chain variant | NG_000007.3 | 71962 |
1245 | CD 129 GCC>GTC [Ala>Val] | Hb La Desirade | HBB:c.389C>T | β | Causative | β-chain variant | NG_000007.3 | 71963 |
1246 | CD 129 GCC>GAC [Ala>Asp] (Hb K-Cameroon) | Hb J-Taichung | HBB:c.389C>A | β | Causative | β-chain variant | NG_000007.3 | 71963 |
3951 | CD 129-133 (-CCTATCAGAAAGT) | Hb Phoenix | HBB:c.389_401del | β | Causative | β-chain variant | NG_000007.3 | 71963 |
1248 | CD 130 TAT>GAT | Hb Wien | HBB:c.391T>G | β | Causative | β-chain variant | NG_000007.3 | 71965 |
1249 | CD 130 TAT>TGT [Tyr>Cys] | Hb Montfermeil | HBB:c.392A>G | β | Causative | β-chain variant | NG_000007.3 | 71966 |
1250 | CD 130 TAT>TCT | Hb Nevers | HBB:c.392A>C | β | Causative | β-chain variant | NG_000007.3 | 71966 |
2196 | CD 130 TAT>TAA [Tyr>STOP] | N/A | HBB:c.393T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71967 |
3860 | CD 130 TAT>TAG [Tyr>STOP] | N/A | HBB:c.393T>G | β | Causative | β-thalassaemia | NG_000007.3 | 71967 |
258 | CD 131 (CAG>TAG) | N/A | HBB:c.394C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71968 |
1251 | CD 131 CAG>GAG | Hb Camden | HBB:c.394C>G | β | Causative | β-chain variant | NG_000007.3 | 71968 |
1252 | CD 131 CAG>AAG | Hb Shelby | HBB:c.394C>A | β | Causative | β-chain variant | NG_000007.3 | 71968 |
1253 | CD 131 CAG>CGG | Hb Sarrebourg | HBB:c.395A>G | β | Causative | β-chain variant | NG_000007.3 | 71969 |
1254 | CD 131 CAG>CCG | Hb Shanghai | HBB:c.395A>C | β | Causative | β-chain variant | NG_000007.3 | 71969 |
2197 | CD 131 (+A) | N/A | HBB:c.395dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71969 |
1255 | CD 131 CAG>CAC | Hb Silver Springs | HBB:c.396G>C | β | Causative | β-chain variant | NG_000007.3 | 71970 |
259 | CD 131/132 (+GCCT) | N/A | HBB:c.396_397insGCCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
260 | CD 131-132 (-GA) >138aa | N/A | HBB:c.396_397delGA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
261 | CD 131-134 (-11bp) >134aa | N/A | HBB:c.396_406del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
262 | CD 132 (AAA>TAA) | N/A | HBB:c.397A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71971 |
1256 | CD 132 AAA>GAA [Lys>Glu] | Hb Takasago | HBB:c.397A>G | β | Causative | β-chain variant | NG_000007.3 | 71971 |
1257 | CD 132 AAA>CAA [Lys>Gln] | Hb K Woolwich | HBB:c.397A>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71971 |
1258 | CD 132 AAA>ACA | Hb Cook | HBB:c.398A>C | β | Causative | β-chain variant | NG_000007.3 | 71972 |
1259 | CD 132 AAA>AAC, also AAA>AAT | Hb Yamagata | HBB:c.399A>C | HBB:c.399A>T | β | Causative | β-chain variant | NG_000007.3 | 71973 |
3896 | CD 132 (AAA>AA-) | N/A | HBB:c.399del | β | Causative | β-thalassaemia | NG_000007.3 | 71973 |
3375 | CD 133 GTG>TTG [Val>Leu] | Hb Miringa | HBB:c.400G>T | β | Causative | β-chain variant | NG_000007.3 | 71974 |
1260 | CD 133 GTG>CTG | Hb Extremadura | HBB:c.400G>C | β | Causative | β-chain variant | NG_000007.3 | 71974 |
1261 | CD 133 GTG>ATG [Val>Met] | Hb La Pommeraie | HBB:c.400G>A | β | Causative | β-chain variant | NG_000007.3 | 71974 |
1262 | CD 133 GTG>GCG | Hb Renert | HBB:c.401T>C | β | Causative | β-chain variant | NG_000007.3 | 71975 |
1263 | CD 134 GTG>GCG | Hb Yaounde | HBB:c.404T>C | β | Causative | β-chain variant | NG_000007.3 | 71978 |
1264 | CD 134 GTG>GAG | Hb North Shore | HBB:c.404T>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71978 |
2389 | CD 134 GTG>GGG [Val>Gly] | Hb Olupona | HBB:c.404T>G | β | Causative | β-chain variant | NG_000007.3 | 71978 |
263 | CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg | N/A | HBB:c.404_413delinsGCAG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71978 |
1265 | CD 135 GCT>CCT [Ala>Pro] | Hb Altdorf | HBB:c.406G>C | β | Causative | β-chain variant | NG_000007.3 | 71980 |
2537 | CD 135 GCT>ACT [Ala>Thr] | Hb Calvino | HBB:c.406G>A | β | Causative | β-chain variant | NG_000007.3 | 71980 |
1266 | CD 135 GCT>GAT [Ala>Asp] | Hb Beckman | HBB:c.407C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71981 |
1267 | CD 135 GCT>GTT [Ala>Val] | Hb Alperton | HBB:c.407C>T | β | Causative | β-chain variant | NG_000007.3 | 71981 |
3249 | CD 135 GCT>GC- | Hb Urumqi | HBB:c.408delT | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71982 |
1268 | CD 136 GGT>TGT [Gly>Cys] | Hb Visayan | HBB:c.409G>T | β | Causative | β-chain variant | NG_000007.3 | 71983 |
1269 | CD 136 GGT>AGT [Gly>Ser] | Hb Perpignan | HBB:c.409G>A | β | Causative | β-chain variant | NG_000007.3 | 71983 |
1270 | CD 136 GGT>CGT | Hb 'tlangeland | HBB:c.409G>C | β | Causative | β-chain variant | NG_000007.3 | 71983 |
1271 | CD 136 GGT>GCT [Gly>Ala] | Hb Petit Bourg | HBB:c.410G>C | β | Causative | β-chain variant | NG_000007.3 | 71984 |
1272 | CD 136 GGT>GAT | Hb Hope | HBB:c.410G>A | β | Causative | β-chain variant | NG_000007.3 | 71984 |
3847 | CD 136 GGT>GTT [Gly>Val] | Hb Bourg-en-Bresse | HBB:c.410G>T | β | Causative | β-chain variant | NG_000007.3 | 71984 |
3034 | CD 137 GTG>TGG [Val>Trp] | Hb Allentown | HBB:c.412_413delinsTG | β | Causative | β-chain variant | NG_000007.3 | 71986 |
264 | CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp | Hb Stara Zagora | HBB:c.413_418delTGGCTA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71987 |
1274 | CD 138 GCT>CCT [Ala>Pro] | Hb Brockton | HBB:c.415G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71989 |
1275 | CD 138 GCT>ACT | Hb Buzen | HBB:c.415G>A | β | Causative | β-chain variant | NG_000007.3 | 71989 |
1276 | CD 138 GCT>GTT [Ala>Val] | Hb Cutlerville | HBB:c.416C>T | β | Causative | β-chain variant | NG_000007.3 | 71990 |
3361 | CD 138/139 (+T) | N/A | HBB:c.417dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71991 |
3370 | CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT) | Hb Templeuve | HBB:c.[421G>A;418_420delAAT] | β | Causative | β-chain variant | NG_000007.3 | 71992, 71995 |
1277 | CD 139 AAT>TAT | Hb Aurora | HBB:c.418A>T | β | Causative | β-chain variant | NG_000007.3 | 71992 |
1278 | CD 139 AAT>GAT | Hb Geelong | HBB:c.418A>G | β | Causative | β-chain variant | NG_000007.3 | 71992 |
1279 | CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] (Hb Nykerk) | Hb Nijkerk | HBB:c.[418A>T;415_417delGCT] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71992 |
2994 | CD 139 AAT>CAT [Asn>His] | Hb Bermondsey | HBB:c.418A>C | β | Causative | β-chain variant | NG_000007.3 | 71992 |
1280 | CD 139 AAT>ACT | Hb Sagami | HBB:c.419A>C | β | Causative | β-chain variant | NG_000007.3 | 71993 |
3388 | CD 139 AAT>AGT [Asn>Ser] | Hb Emilia | HBB:c.419A>G | β | Causative | β-chain variant | NG_000007.3 | 71993 |
1281 | CD 139 AAT>AAR [Asn>Lys] | Hb Hinsdale | HBB:c.420T>R | β | Causative | β-chain variant | NG_000007.3 | 71994 |
2282 | CD 139/140 +T [163 aa] | Hb Boston-Kuwait | HBB:c.420dupT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71994 |
1282 | CD 140 GCC>ACC | Hb Saint-Jacques | HBB:c.421G>A | β | Causative | β-chain variant | NG_000007.3 | 71995 |
1283 | CD 140 GCC>GAC [Ala>Asp] | Hb Himeji | HBB:c.422C>A | β | Causative | β-chain variant | NG_000007.3 | 71996 |
1284 | CD 140 GCC>GTC | Hb Puttelange | HBB:c.422C>T | β | Causative | β-chain variant | NG_000007.3 | 71996 |
1285 | CD 141 CTG>GTG; CD 144 AAG>TAG | Hb Kochi | HBB:c.[424C>G;433A>T] | β | Causative | β-chain variant | NG_000007.3 | 71998 |
1287 | CD 141 (-CTG) | Hb Coventry | HBB:c.424_426delCTG | β | Causative | β-chain variant | NG_000007.3 | 71998 |
2284 | CD 141 CTG>GGG | Hb Aurillac | HBB:c.424C>G | β | Causative | β-chain variant | NG_000007.3 | 71998 |
265 | CD 141 (-C) >156aa | Hb Florida | HBB:c.424delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71998 |
3980 | CD 141 CTG>CCG [Leu>Pro] | Hb Yoshkar-Ola | HBB:c.425T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia | NG_000007.3 | 71999 |
1288 | CD 141-144 (-TGGCCCACA) | Hb Birmingham | HBB:c.425_433delTGGCCCACA | β | Causative | β-chain variant | NG_000007.3 | 71999 |
1289 | CD 141 CTG>CGG | Hb Olmsted | HBB:c.425T>G | β | Causative | β-chain variant | NG_000007.3 | 71999 |
1291 | CD 142 GCC>ACC | Hb Inglewood | HBB:c.427G>A | β | Causative | β-chain variant | NG_000007.3 | 72001 |
1292 | CD 142 GCC>CCC | Hb Toyoake | HBB:c.427G>C | β | Causative | β-chain variant | NG_000007.3 | 72001 |
1293 | CD 142 GCC>GAC | Hb Ohio | HBB:c.428C>A | β | Causative | β-chain variant | NG_000007.3 | 72002 |
2297 | CD 142 GCC>GTC (Ala>Val) | Hb Waterland | HBB:c.428C>T | β | Causative | β-chain variant | NG_000007.3 | 72002 |
1290 | CD 142 (-CC) | Hb Uzes | HBB:c.429_430delCC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72003 |
1295 | CD 143 CAC>GAC | Hb Rancho Mirage | HBB:c.430C>G | β | Causative | β-chain variant | NG_000007.3 | 72004 |
1296 | CD 143 CAC>AAC [His>Asn] | Hb Sapporo | HBB:c.430C>A | β | Causative | β-chain variant | NG_000007.3 | 72004 |
1297 | CD 143 CAC>TAC | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | HBB:c.430C>T | β | Causative | β-chain variant | NG_000007.3 | 72004 |
2024 | CD 143 (-C) | Hb Montreal II | HBB:c.430delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72004 |
1294 | CD 143 (-A) | Hb Saverne | HBB:c.431delA | β | Causative | β-chain variant | NG_000007.3 | 72005 |
1298 | CD 143 CAC>CTC [His>Leu] | Hb Vancleave | HBB:c.431A>T | β | Causative | β-chain variant | NG_000007.3 | 72005 |
1299 | CD 143 CAC>CGC | Hb Abruzzo | HBB:c.431A>G | β | Causative | β-chain variant | NG_000007.3 | 72005 |
1300 | CD 143 CAC>CCC | Hb Syracuse | HBB:c.431A>C | β | Causative | β-chain variant | NG_000007.3 | 72005 |
1301 | CD 143 CAC>CAA or CAG [His>Gln] | Hb Little Rock | HBB:c.432C>A | HBB:c.432C>G | β | Causative | β-chain variant | NG_000007.3 | 72006 |
1303 | CD 144 AAG>GAG | Hb Mito | HBB:c.433A>G | β | Causative | β-chain variant | NG_000007.3 | 72007 |
2364 | CD 144 AAG>TAG | Hb Cambridge-MA | HBB:c.433A>T | β | Causative | β-chain variant | NG_000007.3 | 72007 |
1302 | CD 144 (-A) | Hb Trento | HBB:c.434delA | β | Causative | β-chain variant | NG_000007.3 | 72008 |
1304 | CD 144 AAG>ATG | Hb Barbizon | HBB:c.434A>T | β | Causative | β-chain variant | NG_000007.3 | 72008 |
2961 | CD 144 AAG>ACG [Lys>Thr] | Hb San Cataldo | HBB:c.434A>C | β | Causative | β-chain variant | NG_000007.3 | 72008 |
3325 | CD 144 AAG>AGG [Lys>Arg] | Hb Heze | HBB:c.434A>G | β | Causative | β-chain variant | NG_000007.3 | 72008 |
1305 | CD 144 AAG>AAT or AAC | Hb Andrew-Minneapolis | HBB:c.435G>C | HBB:c.435G>T | β | Causative | β-chain variant | NG_000007.3 | 72009 |
1306 | CD 145 (+CT) | Hb Cranston | HBB:c.436_437insCT | β | Causative | β-chain variant | NG_000007.3 | 72010 |
1307 | CD 145 TAT>AAT | Hb Osler | HBB:c.436T>A | β | Causative | β-chain variant | NG_000007.3 | 72010 |
1308 | CD 145 TAT>CAT | Hb Bethesda | HBB:c.436T>C | β | Causative | β-chain variant | NG_000007.3 | 72010 |
1309 | CD 145 TAT>GAT | Hb Nancy | HBB:c.436T>G | β | Causative | β-chain variant | NG_000007.3 | 72010 |
1310 | CD 145 TAT>TGT | Hb Rainier | HBB:c.437A>G | β | Causative | β-chain variant | NG_000007.3 | 72011 |
1311 | CD 145 TAT>TAA | Hb McKees Rocks | HBB:c.438T>A | β | Causative | β-chain variant | NG_000007.3 | 72012 |
1312 | CD 146 CAC>GAC | Hb Hiroshima | HBB:c.439C>G | β | Causative | β-chain variant | NG_000007.3 | 72013 |
1313 | CD 146 CAC>TAC | Hb Bologna-St.Orsola | HBB:c.439C>T | β | Causative | β-chain variant | NG_000007.3 | 72013 |
3398 | CD 146 CAC>AAC [His>Asn] | Hb Pusan | HBB:c.439C>A | β | Causative | β-chain variant | NG_000007.3 | 72013 |
1314 | CD 146 CAC>CCC | Hb York | HBB:c.440A>C | β | Causative | β-chain variant | NG_000007.3 | 72014 |
1315 | CD 146 CAC>CTC | Hb Cowtown | HBB:c.440A>T | β | Causative | β-chain variant | NG_000007.3 | 72014 |
1316 | CD 146 CAC>CGC | Hb Cochin-Port Royal | HBB:c.440A>G | β | Causative | β-chain variant | NG_000007.3 | 72014 |
1319 | CD 146/147 (+AC) | Hb Tak | HBB:c.440_441dupAC | β | Causative | β-chain variant | NG_000007.3 | 72014 |
1317 | CD 146 CAC>CAG | Hb Kodaira II | HBB:c.441C>G | β | Causative | β-chain variant | NG_000007.3 | 72015 |
1318 | CD 146 CAC>CAA | Hb Kodaira | HBB:c.441C>A | β | Causative | β-chain variant | NG_000007.3 | 72015 |
1320 | CD 147 (+TA) | Hb Monplaisir | HBB:c.442_443dupTA | β | Causative | β-chain variant | NG_000007.3 | 72016 |
3400 | CD 147 TAA>CAA [Stop>Gln] | Hb Zunyi | HBB:c.442T>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 72016 |
3697 | CD 147 TAA>ΑAA [Stop>Lys] | Hb Mokum | HBB:c.442T>A | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 72016 |
3444 | CD 147 TAA>TCA [Stop>Ser] | Hb Kanagawa | HBB:c.443A>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 72017 |
4104 | CD 147 TAA>ΑAC [Stop>Tyr] | N/A | HBB:c.444A>C | β | Causative | β-thalassaemia | NG_000007.3 | 72018 |
3863 | 3'UTR +1 G>A | N/A | HBB:c.*1G>A | β | Causative | β-thalassaemia | NG_000007.3 | 72019 |
267 | 3'UTR +6 C>G (Terminal CD +6 C>G, CAP +1480, β nt 1480 C>G) | N/A | HBB:c.*6C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72024 |
3688 | 3'UTR +21 A>G | N/A | HBB:c.*21A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72039 |
2177 | 3'UTR +32 A>C (3'UTR +1506 (A>C), Terminal CD +32 A>C) | N/A | HBB:c.*32A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72050 |
268 | 3'UTR +47 C>G (Terminal CD +47 C>G) | N/A | HBB:c.*47C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72065 |
3180 | 3'UTR +62 A>G | N/A | HBB:c.*62A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72080 |
269 | 3'UTR -13 bp [CAP +1567 to +1579] | N/A | HBB:c.*93_*105delATCTGGATTCTGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72111 |
3048 | 3'UTR, +C, -TGGATTCT | N/A | HBB:c.*96_*103delTGGATTCTinsC | β | Causative | β-thalassaemia | NG_000007.3 | 72113 |
3443 | Cap +1570 (T>C) | N/A | HBB:c.*96T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72114 |
4076 | Cap +1570 (T>G) | N/A | HBB:c.*96T>G | β | Causative | β-thalassaemia | NG_000007.3 | 72114 |
270 | Poly A (A>C) AATAAA>CATAAA | N/A | HBB:c.*108A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72126 |
271 | Poly A (A>G) AATAAA>GATAAA | N/A | HBB:c.*108A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72126 |
272 | Poly A (T>C) AATAAA>AACAAA | N/A | HBB:c.*110T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
273 | Poly A (T>A) AATAAA>AAAAAA | N/A | HBB:c.*110T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
277 | Poly A (-TA); (AATAAA>AAAA) | N/A | HBB:c.*110_*111delTA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
278 | Poly A (-AATAA) (polyA (-TAAAA)) | N/A | HBB:c.*110_*114del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
4025 | Poly A (-T) AATAAA>AA-AAA | N/A | HBB:c.*110del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
274 | Poly A (A>G) AATAAA>AATGAA | N/A | HBB:c.*111A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72129 |
275 | Poly A (A>G) AATAAA>AATAGA | N/A | HBB:c.*112A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72130 |
2198 | Poly A (A>T) AATAAA>AATATA | N/A | HBB:c.*112A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72130 |
276 | Poly A (A>G) AATAAA>AATAAG | N/A | HBB:c.*113A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72131 |
3046 | 3'UTR +115-+116 (-AA) (Poly A (-AA)) | N/A | HBB:c.*115_*116del | β | Causative | β-thalassaemia | NG_000007.3 | 72133 |
3933 | 3'UTR +116 (+A) (β nt + 1590 (+A)) | N/A | HBB:c.*116dup | β | Causative | β-thalassaemia | NG_000007.3 | 72134 |
2564 | 3'UTR +118 (A>G) (3'UTR +1592 (A>G)) | N/A | HBB:c.*118A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72136 |
3786 | 3'UTR +129 T>A | N/A | HBB:c.*129T>A | β | Causative | β-thalassaemia | NG_000007.3 | 72147 |
3605 | 3'UTR +132 C>T | N/A | HBB:c.*132C>T | β | Causative | β-thalassaemia | NG_000007.3 | 72150 |
4018 | 3'UTR +132 C>G | N/A | HBB:c.*132C>G | β | Causative | β-thalassaemia | NG_000007.3 | 72150 |
3932 | TTS +8 T>C (β nt +1616 T>C) | N/A | HBB:c.*142T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72160 |
3931 | TTS +22 G>C (β nt +1630 G>C) | N/A | HBB:c.*156G>C | β | Causative | β-thalassaemia | NG_000007.3 | 72174 |
3930 | TTS +43 (+A) (β nt +1651 (+A)) | N/A | HBB:c.*177dup | β | Causative | β-thalassaemia | NG_000007.3 | 72195 |
2496 | TTS +48 G>A (CAP +1656 G>A) | N/A | HBB:c.*182G>A | β | Causative | β-thalassaemia | NG_000007.3 | 72200 |
2463 | TTS +99 C>C | N/A | HBB:c.*233G>C | β | Causative | β-thalassaemia | NG_000007.3 | 72251 |
3929 | TTS +113 T>C (β nt + 1721 T>C) | N/A | HBB:c.*247T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72265 |
3689 | TTS +127 T>C | N/A | HBB:c.*261T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72279 |
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IthaGenes was last updated on 2024-12-03 11:48:06