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Showing all entries in chromosome 16 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
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 | |
2561 | ααα(anti-3.7) (Triplicated α (anti-3.7)) | N/A | NG_000006.1:g.34247_38050dup | α2, α1 | Modifier | α-thalassaemia, Anaemia | 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 | |
2567 | BS duplication | N/A | NC_000016.10:g.(85585_100579)_ (360915_410354)dup | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
2568 | FD duplication | N/A | NC_000016.10:g.55826_(185840_187594)dup | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
2569 | ααα(anti-4.2) (Triplicated α (anti-4.2)) | N/A | NG_000006.1:g.(31957_31978)_(34525_34544)dup | α2 | Modifier | Anaemia | NG_000006.1 | |
2570 | Sardinian duplication | N/A | N/A | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
3070 | αααα282 (αααα222) | N/A | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] | HS40, ζ, α2, α1, NPRL3 | Modifier | α-chain variant | 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 | |
3076 | αααα391 | N/A | NC_000016.10:g.101440_492029dup | HS40, ζ, α2, α1, NPRL3 | Modifier | α-chain variant | NG_000006.1 | |
3265 | α-globin cluster triplication | N/A | NC_000016.10:g.(53322_113530)_(181203_206337)dup | HS40, ζ, α2, α1, HBM | Modifier | α-thalassaemia | 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 | |
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 | |
3432 | Hkαα | N/A | N/A | α2, α1, α3.7 hybrid | Neutral | N/A | 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 | |
3937 | 188.7 kb dup | N/A | NC_000016.10:g.62166_250991del | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
3938 | 120.5 kb dup | N/A | NC_000016.10:g.98546_219042del | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
3939 | ~274 kb dup | N/A | N/A | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Modifier | N/A | 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 | |
3948 | -α3.7αα (α triplication) | N/A | N/A | α2, α1, α3.7 hybrid | Modifier | 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 | |
4010 | αααα(anti-3.7) | N/A | N/A | α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
4014 | αααα(159) | N/A | NC_000016.10:g.(63142_63147)_(222524_222529)dup | ζ, α2, α1, NPRL3, HBM | Modifier | 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 | |
4101 | αααα(165) | N/A | NC_000016.10:g.59867_224557dup | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
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 |
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 |
3433 | anti-Hkαα | N/A | N/A | α2, α1 | Neutral | N/A | 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 |
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 |
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 |
3595 | --CR | Hb Chiang Rai | NC_000016.10:g.144215_188843del | ζ, α2, α1, HBM | Causative | α-thalassaemia | 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 |
3192 | rs141494605 | N/A | NG_000006.1:g.27457T>C | HBM | Modifier | Anaemia | NG_000006.1 | 27457 |
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 |
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 |
2971 | -44 C>A | N/A | HBA2:c.-81C>A | α2 | Neutral | N/A | NG_000006.1 | 33695 |
2967 | -22 C>T | N/A | HBA2:c.-59C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33717 |
3785 | -6 G>C | N/A | HBA2:c.-43G>C | α2 | Neutral | N/A | NG_000006.1 | 33733 |
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 |
2481 | CAP +14 C>G | N/A | HBA2:c.-24C>G | α2 | Neutral | N/A | NG_000006.1 | 33752 |
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 |
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 |
3051 | Init CD ACCATG>-CCATG | N/A | HBA2:c.-3delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 33773 |
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 |
3050 | Init CD ATG>TTG [Met>Leu] | N/A | HBA2:c.1A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
3604 | Init CD ATG>GTG [Met>Pro] | N/A | HBA2:c.1A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
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 |
2460 | Init CD ATG>AGG [Met>Arg] | N/A | HBA2:c.2T>G | 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 |
3027 | Init CD ATG>ATT [Met>Ile] | Hb Valdecilla | HBA2:c.3G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33778 |
3564 | Init CD ATG>ATC [Met>Ile] | N/A | HBA2:c.3G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33778 |
431 | CD 1 GTG>ATG [Val>Met] | Hb A2-Fontanabuona | HBA2:c.4G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33779 |
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 |
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 |
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 |
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 |
451 | CD 7 AAG>AGG [Lys>Arg] | Hb Guanajuato | HBA2:c.23A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
2384 | CD 7 AAG>ACG [Lys>Thr] | Hb Nayarit | HBA2:c.23A>C | 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 |
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 |
3791 | CD 11 AAG>GAG [Lys>Glu] | Hb Arbresle | HBA2:c.34A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33809 |
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 |
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 |
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 |
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 |
2348 | CD 14 TGG>TTG [Trp>Leu] | N/A | HBA2:c.44G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33819 |
3941 | CD 14 TGG>TCG [Trp>Ser] | Hb Jax | HBA2:c.44G>C | α2 | Causative | β-chain variant | NG_000006.1 | 33819 |
464 | CD 14 TGG>TGC [Trp>Cys] | Hb Bladensburg | HBA2:c.45G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33820 |
2518 | CD 14 TGG>TGA | N/A | HBA2:c.45G>A | α2 | Causative | α-thalassaemia | 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 |
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 |
3623 | CD 16 AAG>CAG [Lys>Gln] | Hb Heilongjiang | HBA2:c.49A>C | α2 | Causative | α-thalassaemia, 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 |
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 |
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 |
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 |
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 |
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 |
366 | CD 31 AGG>AAG [Arg>Lys] | N/A | HBA2:c.95G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33870 |
2483 | IVS I-1 G>T | N/A | HBA2:c.95+1G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
3745 | IVS I-1 G>A | N/A | HBA2:c.95+1G>A | 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 |
3033 | IVS I-27 C>T | N/A | HBA2:c.95+27C>T | α2 | Neutral | N/A | NG_000006.1 | 33897 |
3769 | IVS I-36 C>T | N/A | HBA2:c.95+36C>T | α2 | Neutral | N/A | NG_000006.1 | 33906 |
3770 | IVS I-39 C>T | N/A | HBA2:c.95+39C>T | α2 | Neutral | N/A | NG_000006.1 | 33909 |
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 |
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 |
3765 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA2:c.118_120del | α2 | Causative | α-thalassaemia, α-chain variant | 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 |
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 |
3489 | CD 42 TAC>GAC [Tyr>Asp] | Hb Huaxi | HBA2:c.127T>G | α2 | Causative | α-chain variant | 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 |
529 | CD 43 TTC>TTG [Phe>Leu] | Hb Hirosaki | HBA2:c.132C>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34024 |
2215 | CD 43/44 -C | N/A | HBA2:c.132delC | α2 | Causative | α-thalassaemia, 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 |
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 |
2953 | CD 46 TTC>ATC [Phe>Ile] | Hb Brigante | HBA2:c.139T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34031 |
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 |
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 |
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 |
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 |
546 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA2:c.146T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
2535 | CD 48-54 -18 bp | Hb Fenton | HBA2:c.146_163delTGAGCCACGGCTCTGCCC | 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 |
374 | CD 49 -GC | N/A | HBA2:c.149_150delGC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34041 |
2955 | CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG) | Hb Goya | HBA2:c.149_172del | α2 | Causative | α-chain variant | 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 |
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 |
3923 | CD 50 CAC>CCC [His>Pro] | Hb Porter Brook | HBA2:c.152A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34044 |
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 |
554 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA2:c.154G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
2458 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton II | HBA2:c.154G>A | 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 |
564 | CD 56 AAG>GAG [Lys>Glu] | Hb Shaare Zedek | HBA2:c.169A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34061 |
3054 | CD 56 AAG>--G | N/A | HBA2:c.169_170delAA | α2 | Causative | α-thalassaemia | 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 |
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 |
2409 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA2:c.178G>A | α2 | Causative | α-chain variant | 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 |
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 |
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 |
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 |
606 | CD 74 GAC>AAC [Asp>Asn] | Hb G-Pest | HBA2:c.223G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34115 |
2979 | CD 74 GAC>TAC [ Asp>Tyr] | Hb Uttoxeter | HBA2:c.223G>T | 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 |
2980 | CD 81 TCC>TAC [Ser>Tyr] | Hb Wolverhampton | HBA2:c.245C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34137 |
3884 | CD 81 TCC>TTC [Ser>Phe] | Hb Zhaotong | HBA2:c.245C>T | 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 |
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 |
2446 | CD 85 GAC>CAC [Asp>His] | Hb Canuts II | HBA2:c.256G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
3952 | CD 85 GAC>AAC [Asp>Asn] | Hb G-Norfolk | HBA2:c.256G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
642 | CD 85 GAC>GTC [Asp>Val] | Hb Inkster | HBA2:c.257A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34149 |
2355 | CD 85 GAC>GGC [Asp>Gly] | Hb Benton | HBA2:c.257A>G | 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 |
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 |
2367 | CD 88 GCG>ACG [Ala>Thr] | Hb Voorhees | HBA2:c.265G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34157 |
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 |
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 |
2388 | CD 90 AAG>CAG [Lys>Gln] | Hb Bergerac | HBA2:c.271A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34163 |
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 |
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 |
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 |
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 |
3696 | CD 94 GAC>GAT [Asp>Asp] | N/A | HBA2:c.285C>T | α2 | Neutral | N/A | NG_000006.1 | 34177 |
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 |
2466 | CD 99 AAG>CAG [Lys>Gln] | Hb Burkina Fassa | HBA2:c.298A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34190 |
3610 | CD 99 AAG>TAG [Lys>STOP] | N/A | HBA2:c.298A>T | α2 | Causative | α-thalassaemia | 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 |
3063 | IVS II-55 T>G | N/A | HBA2:c.300+55T>G | α2 | Neutral | N/A | NG_000006.1 | 34247 |
3783 | IVS II-64 A>G | N/A | HBA2:c.300+64A>G | α2 | Neutral | N/A | NG_000006.1 | 34256 |
2430 | 203 bp deletion | N/A | NG_000006.1:g.34305_34507del203 | α2 | Causative | α-thalassaemia | NG_000006.1 | 34305 |
3365 | IVS II-119 (-G) (+CTCGGCCC) | N/A | HBA2:c.301-24delGinsCTCGGCCC | α2 | Neutral | N/A | NG_000006.1 | 34311 |
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 |
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 |
2991 | CD 108 ACC>AAC [Thr>Asn] | Hb Rogliano | HBA1:c.326C>A | α1 | Causative | α-chain variant | 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 |
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 |
4068 | CD 112 CAC>-AC | N/A | HBA2:c.337delC | α2 | Causative | α-thalassaemia | 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 |
730 | CD 122 CAC>CAG [His>Gln] | Hb Westmead | HBA2:c.369C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34403 |
3961 | CD 122/123 (-CG,+GA) | Hb Nanning | HBA2:c.369_370delinsGA | 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 |
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 |
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 |
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 |
3333 | CD 137 ACC>ACT | N/A | HBA2:c.414C>T | α2 | Neutral | N/A | 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 |
3732 | CD 140 TAC>TAT [Tyr>Tyr] | N/A | HBA2:c.423C>T | α2 | Neutral | N/A | 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 |
3301 | TTS +26 A>G | N/A | HBA2:c.*136A>G | α2 | Neutral | N/A | NG_000006.1 | 34599 |
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 |
3072 | 125 bp deletion | N/A | NG_000006.1: g.37040_37164del | α1 | Neutral | N/A | NG_000006.1 | 37040 |
304 | -α3.5 | N/A | NG_000006.1:g.37464_40964del3501 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37464 |
3740 | -5 C>T | N/A | HBA1:c.-42C>T | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37538 |
3764 | -4 G>C | N/A | HBA1:c.-41C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37539 |
3614 | CAP +14 C>G | N/A | HBA1:c.-24C>G | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37556 |
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 |
465 | CD 15 GGT>CGT [Gly>Arg] (Hb Siam) | Hb Ottawa | HBA1:c.46G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
2365 | CD 15 GGT>TGT [Gly>Cys] | Hb St. Rose | HBA1:c.46G>T | 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 |
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 |
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 |
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 |
358 | IVS I-1 AGGT>AGAT donor | N/A | HBA1:c.95+1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37675 |
3049 | IVS I-1 AGGT>AGCT donor | N/A | HBA1:c.95+1G>C | α1 | Causative | α-thalassaemia | 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 |
3768 | IVS I-39 C>T | N/A | HBA1:c.95+39C>T | α1 | Neutral | N/A | NG_000006.1 | 37713 |
3782 | IVS I-41 G>T | N/A | NM_000558.5(HBA1):c.95+41G>T | α1 | Neutral | N/A | NG_000006.1 | 37715 |
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 |
364 | IVS I-117 GCAGGA>GCAAGA acceptor | N/A | HBA1:c.96-1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37791 |
3251 | IVS I-117 GCAGGA>GCACGA acceptor | N/A | HBA1:c.96-1G>C | α1 | Causative | α-thalassaemia | 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 |
530 | CD 44 CCG>GCG [Pro>Ala] (Hb Milne) | Hb Hagerstown | HBA1:c.133C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
3264 | CD 44 CCG>TCG [Pro>Ser] | Hb Wiangpapao | HBA1:c.133C>T | 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 |
553 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton | HBA1:c.154G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
2502 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA1:c.154G>C | 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 |
573 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA1:c.178G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37874 |
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 |
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 |
3755 | CD 69 GCC>GCT [Ala>Ala] | N/A | HBA1:c.210C>T | α1 | Neutral | N/A | NG_000006.1 | 37906 |
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 |
3312 | CD 72 CAC>CAG [His>Gln] | Hb Madonie | HBA1:c.219C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37915 |
4008 | CD 72 CAC>CA- (g.502 (GenBank: MK600512.1)) | N/A | HBA1:c.219delC | α1 | Causative | α-thalassaemia | 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 |
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 |
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 |
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 |
2503 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA1:c.226G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
3760 | CD 75 GAC>AAC [Asp>Asn] | Hb Matsue-Oki | HBA1:c.226G>A | 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 |
647 | CD 87 CAC>GAC [His>Asp] | Hb Bonn | HBA1:c.262C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
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 |
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 |
3695 | CD 131 TCT>TCC [Ser>Ser] | N/A | HBA1:c.396T>C | α1 | Neutral | N/A | 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 |
2286 | -473 (A>G) (11943(A>G), c.-201A, rs4499252) | N/A | NT_010393.16:g.31478982A>G | AHSP | Neutral | N/A | NT_010393.16 | 31478982 |
2287 | -126 (-TTT) (12020(T15>T18), c.-126TdelTTT, rs5816533 ) | N/A | NT_010393.16:g.31479059delTTT | AHSP | Modifier | Anaemia | NT_010393.16 | 31479059 |
2288 | IVS I-103 (G>A) (12347 (G>A), c.100-72G, rs8050390) | N/A | NT_010393.16:g.31479386G>A | AHSP | Neutral | N/A | NT_010393.16 | 31479386 |
2289 | IVS I-146 (G>A) (12391 (G>A), c.100-27G, rs4296276) | N/A | NT_010393.16:g.31479430G>A | AHSP | Modifier | Anaemia | NT_010393.16 | 31479430 |
2291 | CD 56 GTG > GGG (V56G, rs186590045) | N/A | NT_010393.16:g.31479870T>G | AHSP | Modifier | Anaemia | NT_010393.16 | 31479870 |
2290 | CD 77 CTG>CTT (12895 (G>T), L77L, rs17677) | N/A | NT_010393.16:g.31479934G>T | AHSP | Neutral | N/A | NT_010393.16 | 31479934 |
2773 | rs2238426 | N/A | NC_000016.10:g.3953732A>G | ADCY9 | Modifier | Stroke | NG_011434.1 | |
2772 | rs437115 | N/A | NG_011434.1:g.14764A>G | ADCY9 | Modifier | Stroke | NG_011434.1 | 14764 |
2654 | rs2283497 | N/A | NG_011434.1:g.105126C>A | ADCY9 | Modifier | Stroke | NG_011434.1 | 105126 |
2653 | rs2072338 | N/A | NG_011434.1:g.114260T>C | ADCY9 | Modifier | Stroke | NG_011434.1 | 114260 |
2651 | rs2238432 | N/A | NG_011434.1:g.157046C>T | ADCY9 | Modifier | Stroke | NG_011434.1 | 157046 |
2897 | rs5923 | N/A | NG_009778.1:g.9063C>T | LCAT | Modifier | Pulmonary arterial hypertension | NG_009778.1 | 9063 |
2660 | rs1805015 | N/A | NG_012086.1:g.53930T>C | IL4R | Modifier | Stroke | NG_012086.1 | 53930 |
2782 | rs7203560 | N/A | NG_029669.1:g.9308A>C | NPRL3 | Modifier | Haemolytic anaemia, Bilirubin levels, Reticulocytopenia | NG_029669.1 | 9308 |
3194 | rs570013781 | N/A | NG_029669.1:g.44159C>T | NPRL3 | Modifier | Anaemia | NG_029669.1 | 44159 |
2924 | rs4786504 | N/A | NC_000016.10:g.4487692T>C | HMOX2 | Modifier | Anaemia | N/A | |
3181 | rs141006889 | N/A | NC_000016.10:g.88534873A>G | FOG1 | Modifier | Anaemia | N/A | |
3477 | rs9927848 | N/A | NC_000016.10:g.23821750C>A | CHP2-PRKCB | Modifier | Acute chest syndrome | N/A | 0 |
3519 | rs11859733 | N/A | NC_000016.10:g.58297869T>C | PRSS54-RNU6-269P | Modifier | Abnormal red blood cell count | N/A | 0 |
3193 | rs148706947 | N/A | NG_012267.1:g.65247G>A | AXIN1 | Modifier | Anaemia | NG_012267.1 | 65247 |
3207 | rs76056952 | N/A | NG_033236.1:g.77856G>C | PKD1L2 | Modifier | Abnormal GFR | NG_033236.1 | 77856 |
3478 | rs12447481 | N/A | NG_012969.1:g.16095T>G | FTO | Modifier | Acute chest syndrome | NG_012969.1 | 16095 |
3508 | rs9933611 | N/A | NG_012969.1:g.41011A>G | FTO | Modifier | Pain | NG_012969.1 | 41011 |
3665 | rs2113120 | N/A | NC_000016.10:g.78654247T>C | WWOX | Modifier | F-cell numbers | NG_011698.1 | 559594 |
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IthaGenes was last updated on 2024-11-08 10:16:16