IthaGenes

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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
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
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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