IthaGenes

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Showing all entries involving gene α2 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
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
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
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
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
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
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
3948	-α3.7αα (α triplication)	N/A	N/A	α2, α1, α3.7 hybrid	Modifier	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
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
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
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
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
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
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
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
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	28684
328	--CANT	N/A	NC_000016.10:g.(168531_169756)_(182770_183028)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29394
4020	14.9 kb deletion	N/A	NC_00016.10:g.168803_183737del	α2, α1	Causative	α-thalassaemia	NG_000006.1	29666
3603	-α6.9	N/A	NG_000006.1:g.29785_36746del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29785
318	--SPAN	N/A	NC_000016.10:g.(169756_170100)_(179044_181595)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30619
301	-α4.2	N/A	NC_000016.10:g.169818_174075del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30681
3966	5.9 kb deletion	N/A	NG_000006.1:g.30779_36726del	α2	Causative	α-thalassaemia	NG_000006.1	30779
3018	--NOR	N/A	NC_000016.10:g.170694_184101del	α2, α1	Causative	α-thalassaemia	NG_000006.1	31577
4115	45.2 kb deletion	N/A	NC_000016.10:g.171252_216415del	α2, α1	Causative	α-thalassaemia	NG_000006.1	32115
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32709
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32864
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia	NG_000006.1	32945
3994	10.3 kb deletion	N/A	NC_000016.10:g.172342_182690del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33205
4083	-(α)4.9 (4.9 Kb deletion)	N/A	NC_000016.10:g.172367_177259delinsG	α2, α1	Causative	α-thalassaemia	NG_000006.1	33230
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia	NG_000006.1	33685
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
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
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
3983	CD 5 GCC>ACC [Ala>Thr]	Hb Hengqin II	HBA2:c.16G>A	α2	Causative	α-chain variant	NG_000006.1	33791
445	CD 6 GAC>CAC [Asp>His]	Hb Galliera II	HBA2:c.19G>C	α2	Causative	α-chain variant	NG_000006.1	33794
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
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
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
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
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
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
473	CD 19 GCG>GAG [Ala>Glu]	Hb J-Tashikuergan	HBA2:c.59C>A	α2	Causative	α-chain variant	NG_000006.1	33834
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
476	CD 20 CAC>GAC [His>Asp]	Hb Nikaia	HBA2:c.61C>G	α2	Causative	α-chain variant	NG_000006.1	33836
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
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
2368	CD 23 GAG>GCG [Glu>Ala]	Hb Dayton	HBA2:c.71A>C	α2	Causative	α-chain variant	NG_000006.1	33846
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
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
2211	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34006
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
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
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
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
533	CD 44 CCG>CTG [Pro>Leu]	Hb Milledgeville	HBA2:c.134C>T	α2	Causative	α-chain variant	NG_000006.1	34026
537	CD 45 CAC>CCC [His>Pro]	Hb Oita	HBA2:c.137A>C	α2	Causative	α-chain variant	NG_000006.1	34029
538	CD 45 CAC>CAG [His>Gln]	Hb Bari	HBA2:c.138C>G	α2	Causative	α-chain variant	NG_000006.1	34030
2541	CD 45 CAC>CAG [His>Gln]; CD 57 GGC>CGC [Gly>Arg]	Hb Blythe Boulevard	HBA2:c.[138C>G;172G>C]	α2	Causative	α-chain variant	NG_000006.1	34030, 34064
2953	CD 46 TTC>ATC [Phe>Ile]	Hb Brigante	HBA2:c.139T>A	α2	Causative	α-chain variant	NG_000006.1	34031
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
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
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
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
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34048
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
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
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
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
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
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
590	CD 65 GCG>ACG [Ala>Thr]	Hb Part-Dieu	HBA2:c.196G>A	α2	Causative	α-chain variant	NG_000006.1	34088
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
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
4117	CD 70 GTG>GAG [Val>Glu]	Hb Jiangxi	HBA2:c.212T>A	α2	Causative	α-chain variant	NG_000006.1	34104
602	CD 72 CAC>GAC [His>Asp]	Hb Norton	HBA2:c.217C>G	α2	Causative	α-chain variant	NG_000006.1	34109
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
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
618	CD 76 ATG>ACG [Met>Thr]	Hb Aztec	HBA2:c.230T>C	α2	Causative	α-chain variant	NG_000006.1	34122
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
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
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
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
638	CD 84 AGC>AAC [Ser>Asn]	Hb Meulan	HBA2:c.254G>A	α2	Causative	α-chain variant	NG_000006.1	34146
2970	CD 84 AGC>ACC [Ser>Thr]	Hb Oelsnitz	HBA2:c.254G>C	α2	Causative	α-chain variant	NG_000006.1	34146
2446	CD 85 GAC>CAC [Asp>His]	Hb Canuts II	HBA2:c.256G>C	α2	Causative	α-chain variant	NG_000006.1	34148
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
2372	CD 86 CTG>GTG [Leu>Val]	Hb Ridgewood	HBA2:c.259C>G	α2	Causative	α-chain variant	NG_000006.1	34151
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
2308	CD 87 CAC>CAG [His>Gln]	Hb Lansing	HBA2:c.264C>G	α2	Causative	α-chain variant	NG_000006.1	34156
2549	CD 87 CAC>CAA [His>Glu]	Hb Lansing (A)	HBA2:c.264C>A	α2	Causative	α-chain variant	NG_000006.1	34156
2367	CD 88 GCG>ACG [Ala>Thr]	Hb Voorhees	HBA2:c.265G>A	α2	Causative	α-chain variant	NG_000006.1	34157
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
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
2388	CD 90 AAG>CAG [Lys>Gln]	Hb Bergerac	HBA2:c.271A>C	α2	Causative	α-chain variant	NG_000006.1	34163
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
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
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
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
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
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
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
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
707	CD 111 GCC>GTC [Ala>Val]	Hb Anamosa	HBA2:c.335C>T	α2	Causative	α-chain variant	NG_000006.1	34369
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
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
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
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
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
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
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
2338	CD 127 AAG>GAG [Lys>Glu]	Hb Coombe Park	HBA2:c.382A>G	α2	Causative	α-chain variant	NG_000006.1	34416
2519	CD 127 AAG>TAG [Lys>STOP]	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia	NG_000006.1	34416
2530	CD 127 AAG>AGG [Lys>Arg]	Hb Longview	HBA2:c.383A>G	α2	Causative	α-chain variant	NG_000006.1	34417
3612	CD 127 AAG>ATG [Lys>Met]	N/A	HBA2:c.383A>T	α2	Causative	α-thalassaemia	NG_000006.1	34417
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
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
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
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
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
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
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
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
3403	CD 39 +A	N/A	HBA2:c.118_119insA	α2	Causative	α-thalassaemia	NG_000006.1	37814
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37940
2281	CD 83 CTG>CGG [Leu>Arg]	Hb Ahvaz	HBA2: c.251T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37947
4027	CD 133 AGC>CGC [Ser>Arg]	Hb Val de Marne	HBA2:c.400A>C	α2	Causative	α-chain variant	NG_000006.1	38245
3890	CD 18 GGC>TGC [Gly>Cys]	Hb Jiujiang	HBA2:c.55G>T	α2	Causative	α-chain variant	NG_000006.1	172967

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