IthaGenes

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Showing all entries involving gene α1 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2252	--BR	N/A	NC_000016.10:g.11555_229482del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2268	--BA	N/A	NC_000016.10:g.0_772369del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia	NG_000006.1
2561	ααα(anti-3.7) (Triplicated α (anti-3.7))	N/A	NG_000006.1:g.34247_38050dup	α2, α1	Modifier	α-thalassaemia, Anaemia	NG_000006.1
2567	BS duplication	N/A	NC_000016.10:g.(85585_100579)_ (360915_410354)dup	HS40, ζ, α2, α1	Modifier	α-thalassaemia	NG_000006.1
2568	FD duplication	N/A	NC_000016.10:g.55826_(185840_187594)dup	HS40, ζ, α2, α1	Modifier	α-thalassaemia	NG_000006.1
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	Causative	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
3588	--OY	N/A	NC_000016.10:g.0_318541del	HS40, ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1
3622	--71.8 (71.8 Kb deletion)	N/A	NC_000016.10:g.138971_210817del	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1
3821	--196	N/A	NC_000016.10:g.35880_(232158_243266)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
3822	--227	N/A	NC_000016.10:g.35880_(262740_268502)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
302	-α2.4	N/A	NG_000006.1:g.36860_39252del	α1	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
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
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
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
3292	15 kb deletion	N/A	NC_000016.10:g.172736_187935del	α2, α1, HBM	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
3296	--GB	N/A	NG_000006.1:g.(13208_23659)_(38689_41963)del	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
3432	Hkαα	N/A	N/A	α2, α1, α3.7 hybrid	Neutral	N/A	NG_000006.1	0
3433	anti-Hkαα	N/A	N/A	α2, α1	Neutral	N/A	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
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
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
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
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
309	--SEA	N/A	NC_000016.10:g.165401_184701del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	26264
328	--CANT	N/A	NC_000016.10:g.(168531_169756)_(182770_183028)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29394
318	--SPAN	N/A	NC_000016.10:g.(169756_170100)_(179044_181595)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30619
3018	--NOR	N/A	NC_000016.10:g.170694_184101del	α2, α1	Causative	α-thalassaemia	NG_000006.1	31577
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32709
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32864
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
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
3782	IVS I-41 G>T	N/A	HBA1:c.95+41G>T	α1	Neutral	N/A	NG_000006.1	33911
2501	CD 50 CAC>CAA or CAG [His>Gln]	Hb Frankfurt	HBA1:c.153C>A \| HBA1:c.153C>G	α1	Causative	α-chain variant	NG_000006.1	34045
2416	CD 99 AAG>ATG [Lys>Met]	N/A	HBA1:c.299A>T	α1	Causative	α-chain variant	NG_000006.1	34191
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
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)	N/A	HBA1:c.328delC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34362
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
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
2231	-α3.7 (type III)	N/A	NG_000006.1:g.34570_38381del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34570
2263	α-ZF	N/A	NC_000016.10:g.174046_192396del	α1	Causative	α-thalassaemia	NG_000006.1	34909
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	36664
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	Causative	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
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
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
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	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
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
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	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
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-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
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
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	HBA1:c.152A>T	α1	Causative	α-chain variant	NG_000006.1	37848
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 51-58 or 52-59 (-24bp)	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
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
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
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 60/61 -AAG [-Lys]	Hb Clinic	HBA1:c.184_186delAAG	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	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 Burgos)	Hb Wädenswil	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
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 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
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
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
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
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
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-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	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
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	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
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
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	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	HBA1:c.343C>G	α1	Causative	α-chain variant	NG_000006.1	38188
715	CD 114 CCC>CTC [Pro>Leu]	Hb Nouakchott	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
740	CD 126 GAC>AAC [Asp>Asn]	Hb Tarrant	HBA1:c.379G>A	α1	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	HBA1:c.391T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38236
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
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
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
782	CD 141 CGT>CTT [Arg>Leu]	Hb Legnano	HBA1:c.425G>T	α1	Causative	α-chain variant	NG_000006.1	38270
3302	3'UTR +46 C>A	N/A	HBA1:c.*46C>A	α1	Neutral	N/A	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

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