IthaGenes

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Showing all entries with α⁺ phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia	NG_000006.1
3948	-α3.7α1α2	N/A	N/A	α2, α1	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
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
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
3142	-α6.3	N/A	NG_000006.1:g.31022_37366del6344	α2	Causative	α-thalassaemia, Haemolytic anaemia	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
2554	-α28.5	N/A	NG_000006.1g.7065_35627del28563	ζ, α2	Causative	α-thalassaemia	NG_000006.1	7065
2232	-α27.6	N/A	NG_000006.1:g.9079_36718del27640	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	9079
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
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	28684
3603	-α6.9	N/A	NG_000006.1:g.29785_36746del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29785
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
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia	NG_000006.1	32945
3727	Cap +23 C>G	N/A	HBA2:c.-15C>G	α2	Causative	α-thalassaemia	NG_000006.1	33761
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
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
2206	CD 8 (-C)	N/A	HBA2:c.27delC	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33802
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33820
3841	CD 15 GGT>AGT [Gly>Ser]	Hb Nanchang	HBA2:c.46G>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33821
3623	CD 16 AAG>CAG [Lys>Gln]	Hb Heilongjiang	HBA2:c.49A>C	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33824
3885	CD 17 (-C) (Hb Kunming)	N/A	HBA2:c.54delC	α2	Causative	α-thalassaemia	NG_000006.1	33829
350	CD 18 GGC>G-C	N/A	HBA2:c.56delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33831
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
2207	CD 21/22 +T	N/A	HBA2:c.66dupT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33841
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
353	CD 22 -C	N/A	HBA2:c.69delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
354	CD 23 GAG>TAG [Glu>STOP]	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33845
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
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
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
365	CD 31 AGG>--G	N/A	HBA2:c.94_95del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
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
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
3729	IVS I-11 (-24bp) (Hb Qujing)	N/A	HBA2:c.95+11_95+34del	α2	Causative	α-thalassaemia	NG_000006.1	33881
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33925
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33986
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
368	CD 33 T>C	Hb Chartres	HBA2:c.101T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33993
2211	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34006
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
2493	CD 40 AAG>AA-	N/A	HBA2:c.123delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34015
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
2214	CD 43 TTC>T-C	N/A	HBA2:c.131delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34023
2215	CD 43/44 -C	N/A	HBA2:c.132delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34024
3405	CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC)	N/A	HBA2:c.142_161del	α2	Causative	α-thalassaemia	NG_000006.1	34034
2216	CD 47 -A	N/A	HBA2:c.143delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34035
3053	CD 47/48 (-4bp): (-ACCT)	N/A	HBA2:c.143_146delACCT	α2	Causative	α-thalassaemia	NG_000006.1	34035
374	CD 49 -GC	N/A	HBA2:c.149_150delGC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34041
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34048
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34055
3079	CD 55 +T	N/A	HBA2:c.168dup	α2	Causative	α-thalassaemia	NG_000006.1	34060
3054	CD 56 AAG>--G	N/A	HBA2:c.169_170delAA	α2	Causative	α-thalassaemia	NG_000006.1	34061
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
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34076
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34082
2576	CD 68 AAC>A-C	N/A	HBA2:c.206delA	α2	Causative	α-thalassaemia	NG_000006.1	34098
3973	-α3.7;CD 68 AAC>AAA (-α3.7-Hb G-Philadelphia)	Hb G-Philadelphia	NG_000006.1:g.34247_38050del;34099C>A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34099
3055	CD 73/74 (-4bp): (-GTGG)	N/A	HBA2:c.220_223delGTGG	α2	Causative	α-thalassaemia	NG_000006.1	34112
611	CD 74/75 -GAC [-Asp]	Hb Watts	HBA2:c.226_228delGAC	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34118
3884	CD 81 TCC>TTC [Ser>Phe]	Hb Zhaotong	HBA2:c.245C>T	α2	Causative	α-chain variant	NG_000006.1	34137
3974	CD 82-83 (-CCTG)	N/A	HBA2:c.249_252del	α2	Causative	α-thalassaemia	NG_000006.1	34141
3569	CD 89-93 (-13bp): (-CACAAGCTTCGGG)	N/A	HBA2:c.268_280delCACAAGCTTCGGG	α2	Causative	α-thalassaemia	NG_000006.1	34160
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34163
3572	CD 90‐93 (-8bp): (‐AGCTTCGG)	N/A	HBA2:c.272_279delAGCTTCGG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34164
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
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34175
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
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia	NG_000006.1	34305
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
394	CD 103 CAC>CTC [His>Leu]	Hb Bronovo	HBA2:c.311A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34345
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
397	CD 108 ACC>AAC [Thr>Asn]	Hb Bleuland	HBA2:c.326C>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34360
399	CD 109 CTG>CGG [Leu>Arg]	Hb Suan Dok	HBA2:c.329T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34363
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
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
402	CD 112/113 -C	N/A	HBA2:c.339delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34373
2527	CD 114 (+CC)	N/A	HBA2:c.344_345dup	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34378
3140	CD 114 CCC>CC-	N/A	HBA2:c.345delC	α2	Causative	α-thalassaemia	NG_000006.1	34379
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
2221	CD 115 -GAGTTCACCCC [166 aa]	N/A	HBA2:c.349_359delGAGTTCACCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
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
2951	CD 118 ACC>ATC [Thr>Ile]	Hb Cervantes	HBA2:c.356C>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34390
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
3305	CD 126 GCG>-CG	N/A	HBA2:c.379delG	α2	Causative	α-thalassaemia	NG_000006.1	34413
2519	CD 127 AAG>TAG [Lys>STOP]	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia	NG_000006.1	34416
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
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
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
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
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
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
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
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
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	36664
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37464
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
3719	Init CD ATG>ACG [Met>Thr]	N/A	HBA1:c.2T>C	α1	Causative	α-thalassaemia	NG_000006.1	37581
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
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia	NG_000006.1	37628
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37641
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
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia	NG_000006.1	37664
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia	NG_000006.1	37670
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
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37719
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	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
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
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37851
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
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
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
3788	CD 65 GCG>CCG [Ala>Pro]	Hb Maruchi	HBA1:c.196G>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37892
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37908
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia	NG_000006.1	37917
3848	-α4.2-Q-Thailand	N/A	N/A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37919
3875	CD 74 GAC>GAG [Asp>Glu]	Hb Jishui	HBA1:c.225C>G	α1	Causative	α-chain variant	NG_000006.1	37921
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37933
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37940
387	CD 82-84 (-9 bp)	N/A	HBA1:c.247_255del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37943
3861	CD 87 (-A)	N/A	HBA1:c.263delA	α1	Causative	α-thalassaemia	NG_000006.1	37959
3852	CD 93 GTG>ATG [Val>Met]	Hb Qingcheng	HBA1:c.280G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37976
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
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia	NG_000006.1	37994
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia	NG_000006.1	37997
3737	IVS II-58 G>A	N/A	HBA1:c.300+58G>A	α1	Causative	α-thalassaemia	NG_000006.1	38054
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
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
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38178
3864	CD 116 GAG>TAG [Glu>Stop]	N/A	HBA1:c.349G>T	α1	Causative	α-thalassaemia	NG_000006.1	38194
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
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
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
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
3281	CD 130 (+T)	Hb Sichuan	HBA1:c.393_394insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38238
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
3972	CD 140 TAC>TAA [Tyr>STOP]	Hb Natal	HBA1:c.423C>A	α1	Causative	α-chain variant	NG_000006.1	38268
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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