IthaGenes

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Showing all entries involving gene α1 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
301	-α4.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
302	-α2.4	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
316	-(α)5.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
322	--CI (28+ kb deletion.)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
324	--115	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
326	--YEM	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
329	--KOL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
330	--11.1 (11.1 kb deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
331	--OH	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2230	-α3.7 (type II)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2231	-α3.7 (type III)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2235	α-αΔ970 (970 bp deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
2236	--DUTCH I	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2237	--AW	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2238	--BGS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2239	--CAMPANIA	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2240	--FIL-2 (27.9 deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2241	--ED	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2242	--GP	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2252	--BR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2253	--ZW	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2254	--JY	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2255	--LC	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2256	--VR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2257	--JT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2258	--AB	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2259	--GZ	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2260	Dutch II	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2261	--MK	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2262	--80	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2263	α-ZF	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2264	--Brazil	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2265	--PV	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2266	--HN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2267	--FT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2268	--BA	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2269	--TN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2270	--BO	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2271	--IM	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2272	--LIN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2273	--GS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia
2561	Triplicated α (anti-3.7)	N/A	N/A	α2, α1	Modifier	α-thalassaemia, Anaemia
2567	BS duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2568	FD duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2569	Triplicated α (anti-4.2)	N/A	N/A	α2, α1	Modifier	Anaemia
2570	Sardinian duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3021	--JAL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia
3022	--LOD	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3067	--MEX1	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3068	--MEX2	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3070	αααα282	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	β-thalassaemia
3071	--235	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3076	αααα391	N/A	N/A	HS40, ζ, α2, α1	Causative	β-thalassaemia
3214	44.6 kb deletion	N/A	NC_000016.9:g.194214_238840del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3215	--Braz	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3244	−KOZANI	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia
3258	--NFLD	N/A	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	α2, α1	Causative	α-thalassaemia
3265	α-globin cluster triplication	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	β-thalassaemia
3273	--VS	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia
3274	--CBR	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia
3283	--JS	N/A	N/A	α2, α1	Causative	α-thalassaemia
3284	--PG	N/A	NG_000006.1:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia
3292	15 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3294	22 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3295	225 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3296	--GB	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3327	--GX	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia
3408	--60.2	N/A	NC_000016.9:g.197577_257872del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3432	Hkαα	N/A	N/A	α2, α1, α3.7 hybrid	Neutral	N/A
3433	anti-Hkαα	N/A	N/A	α2, α1	Neutral	N/A
327	--MC	N/A	NG_000006.1:g.164_43364del43201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
323	--CAL	N/A	NG_000006.1:g.8464_40664del32201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3020	--DANE	N/A	NG_000006.1: g.8800_40007del31208	ζ, α2, α1	Causative	α-thalassaemia
310	--THAI	N/A	NG_000006.1:g.10664_44164del33501	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
313	--MED II	N/A	NG_000006.1:g.10864_40864del30001	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
311	--FIL	N/A	NG_000006.1:g.11684_43534	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
325	--RT	N/A	NG_000006.1:g.12264_49164del36901	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
321	--CL	N/A	NG_000006.1:g.13314_124664del111351	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
314	-(α)20.5	N/A	NG_000006.1:g.15164_37864del22701	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
320	--BRIT	N/A	NG_000006.1:g.16364_45664del29301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
319	--MA	N/A	NG_000006.1:g.18964_39864del20901	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
315	--SA	N/A	NG_000006.1:g.19464_43064del23601	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
312	--MED I	N/A	NG_000006.1:g.24664_41064del16401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
309	--SEA	N/A	NG_000006.1:g.26264_45564del19301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
318	--SPAN	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
328	--CANT	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3018	--NOR	N/A	NG_000006.1:g.31541_44948del13408	α2, α1	Causative	α-thalassaemia
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2499	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA1:c.38C>A	α1	Causative	α-chain variant
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
2501	CD 50 CAC>CAA or CAG [His>Gln]	Hb Frankfurt	HBA1:c.153C>A \| HBA1:c.153C>G	α1	Causative	α-chain variant
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34164_37967del3804	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2416	CD 99 AAG>ATG [Lys>Met]	N/A	HBA1:c.299A>T	α1	Causative	α-chain variant
2991	CD 108 ACC>AAC [Thr>Asn]	Hb Rogliano	HBA1:c.326C>A	α1	Causative	α-chain variant
398	CD 108 -C	N/A	HBA1:c.327delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia
3072	125 bp deletion	N/A	NG_000006.1: g.37040_37164del	α1	Neutral	N/A
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia
429	CD 1 GTG>TTG [Val>Leu]	Hb Baldock	HBA1:c.4G>T	α1	Causative	α-chain variant
2352	CD 2/3 +CTG [+Leu]	Hb Pittsburgh	HBA1:c.9_10insCTG	α1	Causative	α-chain variant
437	CD 3 TCT>TTT [Ser>Phe]	Hb Douala	HBA1:c.11C>T	α1	Causative	α-chain variant
442	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA1:c.19G>T	α1	Causative	α-chain variant
444	CD 6 GAC>CAC [Asp>His]	Hb Galliera I	HBA1:c.19G>C	α1	Causative	α-chain variant
2987	CD 9 AAC>GAC [Asn>Asp]	Hb Farnborough	HBA1:c.28A>G	α1	Causative	α-chain variant
453	CD 9 AAC>AGC [Asn>Ser]	Hb Anadour	HBA1:c.29A>G	α1	Causative	α-chain variant
456	CD 9 AAC>AAG [Asn>Lys]	Hb Delfzicht	HBA1:c.30C>G	α1	Causative	α-chain variant
2386	CD 13 GCC>ACC [Ala>Thr]	Hb Olivet	HBA1:c.40G>A	α1	Causative	α-chain variant
347	CD 14 TGG>CGG [Trp>Arg]	Hb Evanston	HBA1:c.43T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
349	CD 14 TGG>TAG	N/A	HBA1:c.44A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2380	CD 14 TGG>TTG [Trp>Leu]	Hb Basel	HBA1:c.44G>T	α1	Causative	α-chain variant
2365	CD 15 GGT>TGT [Gly>Cys]	Hb St. Rose	HBA1:c.46G>T	α1	Causative	α-chain variant
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
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
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia
471	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA1:c.55G>C	α1	Causative	α-chain variant
2353	CD 18 GGC>TGC [Gly>Cys]	Hb Lima	HBA1:c.55G>T	α1	Causative	α-chain variant
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2285	CD 20 CAC>CCC	Hb Fulton-Georgia	HBA1:c.62A>C	α1	Causative	α-chain variant
2317	CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin)	Hb Brugg	HBA1:c.63C>A	α1	Causative	α-chain variant
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
491	CD 24 TAT>TGT [Tyr>Cys]	Hb Ramona	HBA1:c.74A>G	α1	Causative	α-chain variant
2510	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA1:c.84G>C	α1	Causative	α-chain variant
2983	CD 27 GAG>GAT [Glu>Asp]	Hb Hekinan II	HBA1:c.84G>T	α1	Causative	α-chain variant
2995	CD 28 GCC>ACC [Ala>Thr]	Hb Bramall Lane	HBA1:c.85G>A	α1	Causative	α-chain variant
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia
2313	CD 28 GCC>GTC [Ala>Val]	Hb Nedlands	HBA1:c.86C>T	α1	Causative	α-chain variant
2310	CD 29 CTG>GTG [Leu>Val]	Hb Kosovo	HBA1:c.88C>G	α1	Causative	α-chain variant
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia
504	CD 30 GAG>GCG [Glu>Ala]	Hb Bom Jesus da Lapa	HBA1:c.92A>C	α1	Causative	α-chain variant
505	CD 30 GAG>GTG [Glu>Val]	Hb Itapira	HBA1:c.92A>T	α1	Causative	α-chain variant
365	CD 31 AGG>--G	N/A	HBA1:c.92_93delAG	α1	Causative	α-thalassaemia, Haemolytic anaemia
2402	CD 31 AGG>ACG [Arg>Thr]	Hb Mao	HBA1:c.95G>C	α1	Causative	α-chain variant
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia
2381	CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya)	Hb Queens Park	HBA1:c.98T>A	α1	Causative	α-chain variant
2986	CD 32 ATG>ACG [Met>Thr]	Hb Bridlington	HBA1:c.98T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3252	CD 32 ATG>ATA [Met>Ile]	Hb Amsterdam-A1	HBA1:c.99G>A	α1	Causative	α-thalassaemia, α-chain variant
2968	CD 36 TTC>TAC [ Phe>Tyr]	Hb Kempten	HBA1:c.110T>A	α1	Causative	α-chain variant
370	CD 37 -CCC [-Pro)	Hb Heraklion	HBA1:c.112_114delCCC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
371	CD 38/39 -ACC [-Thr]	Hb Taybe	HBA1:c.118_120delACC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
522	CD 40 AAG>ACG [Lys>Thr]	Hb Pisa	HBA1:c.122A>C	α1	Causative	α-chain variant
523	CD 40 AAG>AAC [Lys>Asn]	Hb Saratoga Springs	HBA1:c.123G>C	α1	Causative	α-chain variant
2385	CD 42 TAC>TCC [Tyr>Ser]	Hb Erzeroum	HBA1:c.128A>C	α1	Causative	α-chain variant
530	CD 44 CCG>GCG [Pro>Ala] (Hb Milne)	Hb Hagerstown	HBA1:c.133C>G	α1	Causative	α-chain variant
3264	CD 44 CCG>TCG [Pro>Ser]	Hb Wiangpapao	HBA1:c.133C>T	α1	Causative	α-chain variant
2468	CD 44 +C	N/A	HBA1:c.134_135insC	α1	Causative	α-thalassaemia
3040	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA1:c.146T>G	α1	Causative	α-chain variant
3026	CD 49 AGC>CGC [Ser>Arg]	Hb Puerta del Sol	HBA1:c.148A>C	α1	Causative	α-chain variant
2993	CD 49 AGC>AAC [Ser>Asn]	Hb Furuset	HBA1:c.149G>A	α1	Causative	α-chain variant
2529	CD 50 +GGAGCC	Hb Bakersfield	HBA1:c.151_152insGGAGCC	α1	Causative	α-chain variant
553	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton	HBA1:c.154G>A	α1	Causative	α-chain variant
2502	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA1:c.154G>C	α1	Causative	α-chain variant
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia
556	CD 51-58 or 52-59 (-24bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant
3442	CD 51-58 (+24 bp)	Hb Choisy	HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC	α1	Causative	α-chain variant
561	CD 55 GTT>CTT [Val>Leu] (Hb Poland)	Hb Roubaix	HBA1:c.166G>C	α1	Causative	α-chain variant
562	CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1)	Hb Gerland	HBA1:c.167T>C	α1	Causative	α-chain variant
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
3175	CD 58 CAC>CTC [His>Leu]	Hb Kirklareli	HBA1:c.176A>T	α1	Causative	α-chain variant, Haemolytic anaemia
573	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA1:c.178G>A	α1	Causative	α-chain variant
3280	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA1:c.178G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
378	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA1:c.179G>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
380	CD 60/61 -AAG [-Lys]	Hb Clinic	HBA1:c.184_186delAAG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia
2982	CD 61 AAG>AGG [Lys>Arg]	Hb Derby	HBA1:c.185A>G	α1	Causative	α-chain variant
381	CD 62 -GTG [-Val]	Hb Aghia Sophia	HBA1:c.187_189delGTG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
382	CD 62 GTG>-TG	Hb Champaign	HBA1:c.187delG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia
2347	CD 62 -G	N/A	HBA1:c.189delG	α1	Causative	α-thalassaemia, Haemolytic anaemia
3015	CD 63 GCC>ACC [Ala>Thr]	Hb Greenville-NC	HBA1:c.190G>A	α1	Causative	α-chain variant
383	CD 64-74 (-33 bp)	N/A	HBA1:c.193_225del33	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
587	CD 64 GAC>CAC [Asp>His]	Hb Q-India	HBA1:c.193G>C	α1	Causative	α-chain variant
2528	CD 64 GAC>AAC [Asp>Asn]	Hb Wädenswil	HBA1:c.193G>A	α1	Causative	α-chain variant
2547	CD 64 GAC>AAC [Asp>Asn]	Hb Burgos	HBA1:c.193G>A	α1	Causative	α-chain variant
2455	CD 64 GAC>GCC [Asp>Ala]	Hb Lucan	HBA1:c.194A>C	α1	Causative	α-chain variant
594	CD 68 AAC>CAC [Asn>His]	Hb Jeddah	HBA1:c.205A>C	α1	Causative	α-chain variant
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant
599	CD 70 GTG>ATG [Val>Met]	Hb Haaksbergen	HBA1:c.211G>A	α1	Causative	α-chain variant, Haemolytic anaemia
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2358	CD 71 GCG>GTG [Ala>Val]	Hb Allison Park	HBA1:c.215C>T	α1	Causative	α-chain variant
3312	CD 72 CAC>CAG [His>Gln]	Hb Madonie	HBA1:c.219C>G	α1	Causative	α-chain variant
2996	CD 73 GTG>ATG [Val>Met]	Hb Argenteuil	HBA1:c.220G>A	α1	Causative	α-chain variant
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia
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
608	CD 74 GAC>GTC [Asp>Val]	Hb Les Lilas	HBA1:c.224A>T	α1	Causative	α-chain variant
609	CD 74 GAC>GGC [Asp>Gly]	Hb Chapel Hill	HBA1:c.224A>G	α1	Causative	α-chain variant, Haemolytic anaemia
2503	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA1:c.226G>T	α1	Causative	α-chain variant
2485	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA1:c.232C>T	α1	Causative	α-chain variant
2504	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA2:c.233C>A	α1	Causative	α-chain variant
625	CD 78 AAC>CAC [Asn>His]	Hb Davenport	HBA1:c.235A>C	α1	Causative	α-chain variant
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2505	CD 78 AAC>AAG [Asn>Lys]	Hb Stanleyville-II	HBA1:c.237C>G	α1	Causative	α-chain variant
633	CD 82 GCC>ACC (Ala>Thr)	Hb Hagley Park	HBA1:c.247G>A	α1	Causative	α-chain variant, Haemolytic anaemia
641	CD 85 GAC>CAC [Asp>His]	Hb Canuts	HBA1:c.256G>C	α1	Causative	α-chain variant
2336	CD 86 CTG>GTG [Leu>Val]	N/A	HBA1:c.259C>G	α1	Causative	α-chain variant
647	CD 87 CAC>GAC [His>Asp]	Hb Bonn	HBA1:c.262C>G	α1	Causative	α-chain variant
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
658	CD 89 CAC>CAG [His>Gln]	Hb Buffalo	HBA1:c.270C>G	α1	Causative	α-chain variant
662	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico Madrid II	HBA1:c.272A>G	α1	Causative	α-chain variant
663	CD 90 AAG>ACG	Hb J-Rajappen	HBA1:c.272A>C	α1	Causative	α-chain variant
665	CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn)	Hb Vientiane	HBA1:c.274C>T	α1	Causative	α-chain variant
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia
672	CD 93 GTG>GCG [Val>Ala]	Hb Die	HBA1:c.281T>C	α1	Causative	α-chain variant, Haemolytic anaemia
2507	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA1:c.283G>A	α1	Causative	α-chain variant
2539	CD 94 (+21 bp duplication)	Hb SKMC	HBA1:c.283_300+3dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant
684	CD 95 CCG>CGG [Pro>Arg]	Hb St. Luke's	HBA1:c.287C>G	α1	Causative	α-chain variant
685	CD 95 CCG>CAG [Pro>Gln]	Hb Wichita	HBA1:c.287C>A	α1	Causative	α-chain variant
2357	CD 96 GTC>CTC [Val>Leu]	Hb Woodstock	HBA1:c.289G>C	α1	Causative	α-chain variant
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia
691	CD 99 AAG>AAT [Lys>Asn] (Hb Harlow)	Hb Beziers	HBA1:c.300G>T	α1	Causative	α-chain variant
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia
3148	IVS II-3 +21nt	N/A	HBA1:c.302_303insGACCCGGTCAACTTCAAGGTG	α1	Causative	α-chain variant, Haemolytic anaemia
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2303	CD 100 CTC>TTC (Leu>Phe)	Hb Weesp	HBA1:c.301C>T	α1	Causative	α-chain variant
2305	CD 100 CTC>CCC [Leu>Pro]	Hb Corsica	HBA1:c.302T>C	α1	Causative	α-chain variant
2985	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba IV	HBA1:c.307A>C	α1	Causative	α-chain variant
693	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba II	HBA1:c.309C>A	α1	Causative	α-chain variant
695	CD 103 CAC>TAC [His>Tyr]	Hb Charolles	HBA1:c.310C>T	α1	Causative	α-chain variant
2532	CD 103 CAC>GAC [His>Asp]	Hb Illinois	HBA1:c.310C>G	α1	Causative	α-chain variant
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2340	CD 104 TGC>TGG [Cys>Trp]	Hb Donnington	HBA1:c.315C>G	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
701	CD 106 CTG>CCG [Leu>Pro]	Hb Charlieu	HBA1:c.320T>C	α1	Causative	α-chain variant
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2377	CD 112 CAC>CAA [His>Gln]	Hb West Allis	HBA1:c.339C>A	α1	Causative	α-chain variant
3378	CD 114 CCC>CAC [Pro>His]	Hb Hubei	HBA1:c.344C>A	α1	Causative	α-chain variant
2322	CD 115 GCC>GTC [Ala>Val]	Hb Palmela	HBA1:c.347C>T	α1	Causative	α-chain variant
720	CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X , Hb Oliviere)	Hb O-Indonesia	HBA1:c.349G>A	α1	Causative	α-chain variant
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3036	CD 117/118 +TCA [+Ser]	Hb Wexham	HBA1:c.354_355insTCA	α1	Causative	α-chain variant
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
726	CD 119 CCT>CTT [Pro>Leu]	Hb Diamant	HBA1:c.359C>T	α1	Causative	α-chain variant
2508	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA1:c.362C>A	α1	Causative	α-chain variant
729	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA1:c.367C>T	α1	Causative	α-chain variant
407	CD 123 GCC >CCC [Ala>Pro]	Hb Voreppe	HBA1:c.370G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
733	CD 123 GCC>TCC [Ala>Ser]	Hb Mulhacen	HBA1:c.370G>T	α1	Causative	α-chain variant
3016	CD 123 GCC>GTC [Ala>Val]	Hb Louisa	HBA1:c.371C>T	α1	Causative	α-chain variant
2984	CD124 TCC>TGC [Ser>Cys]	Hb Harehills	HBA1:c.374C>G	α1	Causative	α-chain variant
2414	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze II	HBA1:c.377T>C	α1	Causative	α-chain variant
738	CD 126 GAC>CAC [Asp>His]	Hb Sassari	HBA1:c.379G>C	α1	Causative	α-chain variant
2408	CD 126 GAC>GCC [Asp>Ala]	Hb Verdun	HBA1:c.380A>C	α1	Causative	α-chain variant
743	CD 126 GAC>GAG [Asp>Glu]	Hb Burlington	HBA1:c.381C>G	α1	Causative	α-chain variant
3380	CD 127 AAG>GAG [Lys>Glu]	Hb Shantou	HBA1:c.382A>G	α1	Causative	α-chain variant
411	CD 129 CTG>CCG [Leu>Pro]	Hb Tunis-Bizerte	HBA1:c.391T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
749	CD 130 GCT>GTT [Ala>Val]	Hb Westborough	HBA1:c.392C>T	α1	Causative	α-chain variant, Haemolytic anaemia
3281	CD 130 (+T)	Hb Sichuan	HBA1:c.393_394insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
752	CD 131 TCT>TTT	Hb Lusaka	HBA1:c.395C>T	α1	Causative	α-chain variant
416	CD 131 (+T) >175aa	Hb Pak Num Po	HBA1:c.396_397insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
753	CD 131 TCT>TC-	Hb Fez	HBA1:c.396delT	α1	Causative	α-chain variant
2323	CD 132 GTG>ATG [Val>Met]	Hb Portimão	HBA1:c.397G>A	α1	Causative	α-chain variant
760	CD 134 -C	Hb Senlis	HBA1:c.404delC	α1	Causative	α-chain variant, Haemolytic anaemia
762	CD 135 GTG>CTG [Val>Met]	Hb Trenton	HBA1:c.406G>A	α1	Causative	α-chain variant
767	CD 137 ACC>CCC [Thr>Pro]	Hb Verona	HBA1:c.412A>C	α1	Causative	α-chain variant
769	CD 138 TCC>TGC [Ser>Cys]	Hb Ecuador	HBA1:c.416C>G	α1	Causative	α-chain variant
771	CD 139 AAA>GAA [Ala>Glu]	Hb Hanamaki-1	HBA1:c.418A>G	α1	Causative	α-chain variant
3302	+778 C>A	N/A	HBA1:c.*46C>A	α1	Neutral	N/A
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia

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