IthaGenes

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Showing all entries involving gene δ (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3
1404	(Hb Anti-Lepore Hong Kong)	Hb Hong Kong	NG_000007.3:g.63160_70572dup	δ, β	Causative	δ-chain variant	NG_000007.3
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	δ, β	Causative	δ-chain variant	NG_000007.3
1525	Belgian (Aγδβ)0	N/A	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3
1542	Dutch I (εγδβ)0	N/A	NC_000011.10:g.5229432_5329263del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3
2418	Swiss (εγδβ)0	N/A	NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
2548	Inv-Del English V	N/A	NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
3112	African II duplication	N/A	NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938	ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3
3570	1.78Mb εγδβ(0) del (Bedouin)	N/A	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3578	2.2 Mb deletion	N/A	NC_000011.10:g.4052720_6253287del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3882	rs3813726	N/A	NC_000011.10:g.5234759T>A \| NC_000011.10:g.5234759T>C	δ	Modifier	Hb F levels	NG_000007.3
3955	Siriraj I Gγ(Aγδβ)0 (~118 kb del)	N/A	N/A	Aγ, δ, β	Causative	δβ-thalassaemia	NG_000007.3
1502	Italian 1 (HPFH-4)	N/A	N/A	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1511	East European (δβ)0	N/A	NG_000007.3:g.61566_70708del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1516	Leiden 7.4 kb (δβ)0	N/A	NG_000007.3:g.(59658_64667)_(72019_81668)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
1518	Japanese 2 (δβ)0	N/A	NG_000007.3:g.52036_78987del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1528	Yunnanese (Aγδβ)0	N/A	NC_000011.10:g.5182845_5249973del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1531	Canadian (Aγδβ)0	N/A	NC_000011.10:g.5196589_5251715delinsTA	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1532	Leiden 69.5	N/A	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	NC_000011.10:g.5201244_5250542del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1541	Croatian (εγδβ)0	N/A	NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1545	English IV	N/A	NC_000011.10:g.5156866_5595894del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1547	Dutch II	N/A	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia	NG_000007.3	0
1551	Dutch VI	N/A	NC_000011.10:g.(?_5227218)_(5373082_5382848)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1552	Japanese	N/A	NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2158	Pakistani I	N/A	NC_000011.10:g.5194461_5700474delins[250inv]	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2163	Norwegian (εγδβ)0	N/A	NC_000011.10:g.5228098_5358569del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2378	CD 6 GAG>CAG [Glu>Gln]	Hb A2-Ramallah	HBD:c.19G>C	δ	Causative	δ-chain variant	NG_000007.3	0
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3	0
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3340	Brazilian (εγδβ)0	N/A	NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3	0
3390	βδβ hybrid	Hb Palencia	N/A	δ, β	Causative	β-chain variant	NG_000007.3	0
3849	~72 kb εγδβ(0) del	N/A	NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	9260
3270	Chinese I (εγδβ)0	N/A	NC_000011.10:g.5036736_5270337del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia	NG_000007.3	27279
3868	>35.3 Kb deletion	N/A	NG_000007.3:g.(21655_27675)_(63032_64586)del	ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	27675
3869	>29.5 Kb duplication	N/A	NG_000007.3:g.(27675_41485)_(71150_72080)dup	Aγ, Gγ, δ, β, pseudo β	Causative	β-thalassaemia	NG_000007.3	41485
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
3835	78.9 kb Gγ(Aγδβ)0 del	N/A	NC_000011.10:g.5169895_5248821delins5216274_5216309	Aγ, δ, β, pseudo β, OR52Z1-OR51V1	Causative	δβ-thalassaemia	NG_000007.3	43875
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45410
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1520	German (Aγδβ)0	N/A	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45922
1523	Malaysian-2 (Aγδβ)0	N/A	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	47376
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, β, pseudo β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
1527	Chinese (Aγδβ)0	N/A	NC_000011.10:g.5169918_5248821del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48795
1526	Black (Aγδβ)0	N/A	NC_000011.10:g.5212727_5248576del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	49040
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NC_000011.10:g.5214461_5247124del	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	50492
1508	Japanese (δβ)0	N/A	NC_000011.10:g.5132468_5246133del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	51483
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	53390
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	54867
2156	Algerian HPFH deletion	N/A	NG_000007.3:g.57141_81002del; 81008delA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57141, 81008
2155	French West-Indies deletion/insertion (French West-Indies HPFH deletion)	N/A	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57155
110	IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0)	N/A	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	57237, 70691
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia	NG_000007.3	57237
3971	Tunisian (δβ)0	N/A	NG_000007.3:g.58253_72837del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	58253
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	59478
1509	Spanish (δβ)0	N/A	NG_000011.10:g.5144331_5237241del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60375
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60530
2806	rs3759074	N/A	NG_000007.3:g.61068C>T	δ	Modifier	Hb F levels, Severity	NG_000007.3	61068
2154	French deletion/insertion (French HPFH deletion)	N/A	NG_000007.3:g.[61399_61400insC; 61402_81144del]	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	61402
2799	rs3813727	N/A	NG_000007.3:g.62934T>C	δ	Modifier	Hb F levels, Severity	NG_000007.3	62934
3601	-130 A>G	N/A	HBD:c.-180A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63003
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63019
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63024
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63053
1322	-77 T>C	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63056
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63057
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63065
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63068
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63078
3602	-44 G>A	N/A	HBD:c.-94G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63089
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63097
4096	Hb Anti-Lepore Laibin	Hb Anti-Lepore Laibin	NG_000007.3:g.63100_70511dup	δ, β	Causative	δ-chain variant	NG_000007.3	63100
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63102
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63103
3792	N/A	Hb Lepore-Hong Kong	NG_000007.3:g.63154_70565del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	63154
3964	Hb Anti-Lepore Liuzhou	N/A	NG_000007.3:g.63154_70565dup	δ, β	Causative	δ-chain variant	NG_000007.3	63154
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63185
1347	CD 1 GTG>GCG	Hb A2-Niigata	HBD:c.5T>C	δ	Causative	δ-chain variant	NG_000007.3	63187
2328	CD 2 CAT>AAT [His>Asn]	Hb A2-Calderdale	HBD:c.7C>A	δ	Causative	δ-chain variant	NG_000007.3	63189
1348	CD 2 CAT>CTT	Hb A2-Catania	HBD:c.8A>T	δ	Causative	δ-chain variant	NG_000007.3	63190
1349	CD 2 CAT>CGT	Hb A2-Sphakiá	HBD:c.8A>G	δ	Causative	δ-chain variant	NG_000007.3	63190
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63191
3366	CD 3 CTG>CCG [Leu>Pro]	Hb A2-Sile	HBD:c.11T>C	δ	Causative	δ-chain variant	NG_000007.3	63193
1331	CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero)	N/A	HBD:c.14C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63196
1350	CD 4 ACT>AGT [Thr>Ser]	Hb A2-Acacias	HBD:c.14C>G	δ	Causative	δ-chain variant	NG_000007.3	63196
3617	CD 5 CCT>ACT [Pro>Thr]	Hb A2-Partinico	HBD:c.16C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63198
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia	NG_000007.3	63204
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63204
4035	CD 7 GAG>AAG [Glu>Lys]	Hb A2-Zhengzhou	HBD:c.22G>A	δ	Causative	δ-chain variant	NG_000007.3	63204
1351	CD 7 GAG>GCG [Glu>Ala]	Hb A2-Udine	HBD:c.23A>C	δ	Causative	δ-chain variant	NG_000007.3	63205
2325	CD 7 GAG>GAC [Glu>Asp]	Hb A2-Pordenone	HBD:c.24G>C	δ	Causative	δ-chain variant	NG_000007.3	63206
1352	CD 8 AAG>GAG [Lys>Glu]	Hb A2-Toranomon	HBD:c.25A>G	δ	Causative	δ-chain variant	NG_000007.3	63207
4030	CD 8 AAG>AAC [Lys>Asn]	Hb A2-Hengyang	HBD:c.27G>C	δ	Causative	δ-chain variant	NG_000007.3	63209
3232	CD 10 GCT>-CT	N/A	HBD:c.31delG	δ	Causative	δ-thalassaemia	NG_000007.3	63213
3243	CD 10 GCT>CCT [Ala>Pro]	Hb A2-Guangzhou	HBD:c.31G>C	δ	Causative	δ-chain variant	NG_000007.3	63213
3496	CD 10 GCT>GTT [Ala>Val]	Hb A2-Canakkale	HBD:c.32C>T	δ	Causative	δ-chain variant	NG_000007.3	63214
1353	CD 11 GTC>GGC	Hb A2-Pylos	HBD:c.35T>G	δ	Causative	δ-chain variant	NG_000007.3	63217
2299	CD 12 AAT>ACT (Asn>Thr)	Hb A2-Rotterdam	HBD:c.38A>C	δ	Causative	δ-chain variant	NG_000007.3	63220
1354	CD 12 AAT>AAA [Asn>Lys]	Hb A2-NYU	HBD:c.39T>A	δ	Causative	δ-chain variant	NG_000007.3	63221
1355	CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone)	Hb A2-MUMC	HBD:c.41C>A	δ	Causative	δ-chain variant	NG_000007.3	63223
2448	CD 14 CTG>CCG [Leu>Pro]	Hb A2-Saint-Etienne	HBD:c.44T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63226
3628	CD 15 TGG>CGG [Trp>Arg]	Hb A2-Utah	HBD:c.46T>C	δ	Causative	δ-chain variant	NG_000007.3	63228
3372	CD 15 TGG>TTG [Trp>Leu]	Hb A2-Stockholm	HBD:c.47G>T	δ	Causative	δ-chain variant	NG_000007.3	63229
1356	CD 16 GGC>CGC	Hb A2' or Hb B2	HBD:c.49G>C	δ	Causative	δ-chain variant	NG_000007.3	63231
4097	CD 17 AAA>CAA [Lys>Gln]	Hb A2-Laibin	HBD:c.52A>C	δ	Causative	δ-thalassaemia	NG_000007.3	63234
3242	CD 17 AAA>ACA [Lys>Thr]	Hb A2-Qingyuan	HBD:c.53A>C	δ	Causative	δ-chain variant	NG_000007.3	63235
4039	CD 18 GTG>GGG [Val>Gly]	Hb A2-Siping	HBD:c.56T>G	δ	Causative	δ-chain variant	NG_000007.3	63238
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63242
1357	CD 20 GTG>GAG	Hb A2-Roosevelt	HBD:c.62T>A	δ	Causative	δ-chain variant	NG_000007.3	63244
3241	CD 21 GAT>GGT [Asp>Gly]	Hb A2-Dongguan	HBD:c.65A>G	δ	Causative	δ-chain variant	NG_000007.3	63247
1396	(δβδ hybrid)	Hb Parchman	NG_000007.3:g.[63249_70661del;63571_70985dup]	δ, β	Causative	δ-chain variant	NG_000007.3	63249
1401	(Hb Anti-Lepore Miyada)	Hb Miyada	NG_000007.3:g.63249_70661dup	δ, β	Causative	N/A	NG_000007.3	63249
2447	CD 22 GCA>ACA>AAA [Ala>Lys]	Hb A2-Marseille	HBD:c.[67G>A; 68C>A]	δ	Causative	δ-chain variant	NG_000007.3	63249
1358	CD 22 GCA>GAA [Ala>Glu]	Hb A2-Flatbush	HBD:c.68C>A	δ	Causative	δ-chain variant	NG_000007.3	63250
1359	CD 24 GGT>GAT	Hb A2-Victoria	HBD:c.74G>A	δ	Causative	δ-chain variant	NG_000007.3	63256
1360	CD 25 GGT>GAT	Hb A2-Yokoshima	HBD:c.77G>A	δ	Causative	δ-chain variant	NG_000007.3	63259
1361	CD 26 GAG>GAC	Hb A2-Puglia	HBD:c.81G>C	δ	Causative	δ-chain variant	NG_000007.3	63263
1332	CD 27 GCC>TCC [Ala>Ser]	Hb A2-Yialousa	HBD:c.82G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63264
3187	rs35152987	N/A	NG_000007.3:g.63264G>T	δ	Modifier	Anaemia	NG_000007.3	63264
3240	CD 28 CTG>CCG [Leu>Pro]	Hb A2-Hunan	HBD:c.86T>C	δ	Causative	δ-chain variant	NG_000007.3	63268
2437	CD 29 GGC>GAC [Gly>Asp]	Hb A2-Hong Kong	HBD:c.89G>A	δ	Causative	δ-chain variant	NG_000007.3	63271
3960	CD 29 GGC>GGT [Gly>Gly]	N/A	HBD:c.90C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63272
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63274
3883	IVS I-1 G>C	N/A	HBD:c.92+1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63275
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63276
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63279
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63290
2563	IVS I-1 (27 bp insertion)	N/A	HBD:c.92+83_84ins27	δ	Causative	δ-thalassaemia	NG_000007.3	63357
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia	NG_000007.3	63401
1335	IVS I-128 G>C (IVS I 3' AG>AC)	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63402
1363	CD 36 CCT>CAT	Hb A2-Metaponto	HBD:c.110C>A	δ	Causative	δ-chain variant	NG_000007.3	63420
3387	CD 36 CCT>CGT [Pro>Arg]	Hb A2-Sanremo	HBD:c.110C>G	δ	Causative	δ-chain variant	NG_000007.3	63420
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63423
4029	CD 39 CAG>AAG [Gln>Lys]	Hb A2-Chengdu	HBD:c.118C>A	δ	Causative	δ-chain variant	NG_000007.3	63428
2320	CD 39 CAG>CAC [Gln>His]	Hb A2-Lyon	HBD:c.120G>C	δ	Causative	δ-chain variant	NG_000007.3	63430
4037	CD 40 AGG>AGT [Arg>Ser]	Hb A2-Wuhan	HBD:c.123G>T	δ	Causative	δ-chain variant	NG_000007.3	63433
3239	CD 42 TTT>CTT [Phe>Leu]	Hb A2-Huadu	HBD:c.127T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63437
1364	CD 43 GAG>AAG	Hb A2-Melbourne	HBD:c.130G>A	δ	Causative	δ-chain variant	NG_000007.3	63440
1365	CD 43 GAG>GGG	Hb A2-Agrinio	HBD:c.131A>G	δ	Causative	δ-chain variant	NG_000007.3	63441
3238	CD 44 TCC>TGC [Ser>Cys]	Hb A2-Conghua	HBD:c.134C>G	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63444
3806	CD 44-48 (-CTTTGGGGATC) (p.Phe46Valfs*4)	N/A	HBD:c.135_145del	δ	Causative	δ-thalassaemia	NG_000007.3	63445
4026	CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G	Hb A2-Malay	HBD:c.[139G>C;316-443A>G]	δ	Causative	δ-thalassaemia	NG_000007.3	63449, 64081
4069	CD 46 GGG>AGG [Gly>Arg]	Hb A2-Yulin	HBD:c.139G>A	δ	Causative	δ-chain variant	NG_000007.3	63449
2425	CD 46 GGG>GAG [Gly>Glu]	Hb A2-Tunis	HBD:c.140G>A	δ	Causative	δ-chain variant	NG_000007.3	63450
3317	CD 47 GAT>AAT [Asp>Asn]	Hb A2-Lampang	HBD:c.142G>A	δ	Causative	δ-chain variant	NG_000007.3	63452
1366	CD 47 GAT>GTT	Hb A2-Parkville	HBD:c.143A>T	δ	Causative	δ-chain variant	NG_000007.3	63453
2426	CD 50 TCT>ACT [Ser>Thr]	Hb A2-Konz	HBD:c.151T>A	δ	Causative	δ-chain variant	NG_000007.3	63461
1367	CD 51 CCT>CGT	Hb A2-Adria	HBD:c.155C>G	δ	Causative	δ-chain variant	NG_000007.3	63465
2329	CD 52 GAT>CAT [Asp>His]	Hb A2-Walsgrave	HBD:c.157G>C	δ	Causative	δ-chain variant	NG_000007.3	63467
3316	CD 53 GCT>CCT [Ala>Pro]	Hb A2-Edirne	HBD:c.160G>C	δ	Causative	δ-chain variant	NG_000007.3	63470
3315	CD 56 GGC>GAC [Gly>Asp]	Hb A2-Shah Alam	HBD:c.170G>A	δ	Causative	δ-chain variant	NG_000007.3	63480
1368	CD 57 AAC>AAA	Hb A2-Campania	HBD:c.174C>A	δ	Causative	δ-chain variant	NG_000007.3	63484
2575	CD 58 +C	N/A	HBD:c.176_177insC	δ	Causative	δ-thalassaemia	NG_000007.3	63486
1369	CD 59 AAG>ATG [Lys>Met]	Hb A2-North Africa	HBD:c.179A>T	δ	Causative	δ-chain variant	NG_000007.3	63489
3441	CD 59 AAG>A-G (δ0 59 (-A))	N/A	HBD:c.179delA	δ	Causative	δ-thalassaemia	NG_000007.3	63489
1370	CD 59 AAG>AAC	Hb A2-Pasteur-Tunis	HBD:c.180G>C	δ	Causative	δ-chain variant	NG_000007.3	63490
3237	CD 59/60 (+GG)	N/A	HBD:c.180_181dup	δ	Causative	δ-thalassaemia	NG_000007.3	63490
3870	CD 62 GCT>CCT [Ala>Pro]	N/A	HBD:c.187G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63497
1371	CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo)	Hb A2-Fogo	HBD:c.193G>A	δ	Causative	δ-chain variant	NG_000007.3	63503
4036	CD 65 AAG>ATG [Lys>Met]	Hb A2-Zhaoqing	HBD:c.197A>G	δ	Causative	δ-chain variant	NG_000007.3	63507
3495	CD 65 AAG>AAT [Lys>Asn]	Hb A2-Yunnan	HBD:c.198G>T	δ	Causative	δ-chain variant	NG_000007.3	63508
4109	N/A	Hb Lepore-Quanzhou	NG_000007.3:g.63511_70924del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63511
2573	CD 67 GTG>ATG [Val>Met]	Hb A2-Deventer	HBD:c.202G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63512
1372	CD 69 GGT>CGT	Hb A2-Indonesia	HBD:c.208G>C	δ	Causative	δ-chain variant	NG_000007.3	63518
3406	CD 69 GGT>GAT [Gly>Asp]	Hb A2-Gebenstorf	HBD:c.209G>A	δ	Causative	δ-chain variant	NG_000007.3	63519
1373	CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.)	Hb A2-Ventimiglia	HBD:c.212C>G	δ	Causative	δ-chain variant	NG_000007.3	63522
3335	CD 73 GAT>GTT [Asp>Val]	Hb A2-Henan	HBD:c.221A>T	δ	Causative	δ-chain variant	NG_000007.3	63531
2324	CD 74 GGC>GAC [Gly>Asp]	Hb A2-Asti	HBD:c.224G>A	δ	Causative	δ-chain variant	NG_000007.3	63534
1374	CD 75 CTG>GTG	Hb A2-Grovetown	HBD:c.226C>G	δ	Causative	δ-chain variant	NG_000007.3	63536
4092	CD 76 GCT>GAT [Ala>Asp]	Hb A2-Moyen-Orient	HBD:c.230C>A	δ	Causative	δ-chain variant	NG_000007.3	63540
3256	CD 77 CAC>CGC [His>Arg]	Hb A2-Kiriwong	HBD:c.233A>G	δ	Causative	δ-chain variant	NG_000007.3	63543
4091	CD 79 GAC>AAC [Asp>Asn]	Hb A2-Guangxi	HBD:c.238G>A	δ	Causative	δ-chain variant	NG_000007.3	63548
2477	CD 79 GAC>GGC [Asp>Gly]	Hb A2-Turkish	HBD:c.239A>G	δ	Causative	δ-chain variant	NG_000007.3	63549
4032	CD 80 AAC>AAA [Asn>Lys]	Hb A2-Lishui	HBD:c.243C>A	δ	Causative	δ-chain variant	NG_000007.3	63552
2309	CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis)	Hb A2-St. George's	HBD:c.244C>T	δ	Causative	δ-chain variant	NG_000007.3	63554
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
3992	CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met]	Hb A2-Roi-Et	HBD:c.[249G>T;400G>A]	δ	Causative	δ-chain variant	NG_000007.3	63559, 64608
1375	CD 83 GGC>GAC [Gly>Asp]	Hb A2-Nishishinbashi	HBD:c.251G>A	δ	Causative	δ-chain variant	NG_000007.3	63561
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63564
1376	CD 85 TTT>TCT	Hb A2-Etolia	HBD:c.257T>C	δ	Causative	δ-chain variant	NG_000007.3	63567
1377	CD 87 CAG>AAG	Hb A2-Montechiaro	HBD:c.262C>A	δ	Causative	δ-chain variant	NG_000007.3	63572
3844	CD 87 CAG>TAG [Gln>STOP]	N/A	HBD:c.262C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63572
3236	CD 87 CAG>C-G	N/A	HBD:c.263delA	δ	Causative	δ-thalassaemia	NG_000007.3	63573
4016	CD 87 CAG>CGG [Gln>Arg]	Hb A2-Cremona	HBD:c.263A>G	δ	Causative	δ-chain variant	NG_000007.3	63573
1378	CD 88 CTG>GTG	Hb A2-Lucania	HBD:c.265C>G	δ	Causative	δ-chain variant	NG_000007.3	63575
3547	CD 89 AGT>AAT [Ser>Asn]	Hb A2-Pistoia	HBD:c.269G>A	δ	Causative	δ-chain variant	NG_000007.3	63579
2476	CD 90 GAG>AAG [Glu>Lys]	Hb A2-Canebière	HBD:c.271G>A	δ	Causative	δ-chain variant	NG_000007.3	63581
1379	CD 90 GAG>GTG [Glu>Val]	Hb A2-Honai	HBD:c.272A>T	δ	Causative	δ-chain variant	NG_000007.3	63582
2354	CD 90 GAG>GGG [Glu>Gly]	Hb A2-India	HBD:c.272A>G	δ	Causative	δ-chain variant	NG_000007.3	63582
1338	CD 91 (+T)	N/A	HBD:c.275dupT	δ	Causative	δ-thalassaemia	NG_000007.3	63585
3383	CD 91 CTG>CCG [Leu>Pro]	Hb A2-Courbevoie	HBD:c.275T>C	δ	Causative	δ-chain variant	NG_000007.3	63585
1380	CD 93 TGT>GGT	Hb A2-Sant' Antioco	HBD:c.280T>G	δ	Causative	δ-chain variant	NG_000007.3	63590
3598	CD 93/94 (-TG) [Cys>STOP]	N/A	HBD:c.282_283delTG	δ	Causative	N/A	NG_000007.3	63592
4013	CD 93 TGT>TGG [Cys>Trp]	Hb A2-Pontedera	HBD:c.282T>G	δ	Causative	δ-chain variant	NG_000007.3	63592
4031	CD 96 CTG>CGG [Leu>Arg]	Hb A2-Hubei	HBD:C.290T>G	δ	Causative	δ-chain variant	NG_000007.3	63600
3222	CD 97 CAC>CGC [His>Arg]	Hb A2-Merchang	HBD:c.293A>G	δ	Causative	δ-chain variant	NG_000007.3	63603
3787	CD 97 CAC>CAT [His>His]	N/A	HBD:c.294C>T	δ	Neutral	N/A	NG_000007.3	63604
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63605
3975	CD 98 (-GTG, +A)	N/A	HBD:c.295_297delGTGinsA	δ	Causative	δ-thalassaemia	NG_000007.3	63605
1382	CD 99 GAT>AAT	Hb A2-Canada	HBD:c.298G>A	δ	Causative	δ-chain variant	NG_000007.3	63608
4038	CD 99 GAT>GGT [Asp>Gly]	Hb A2-Wanxian	HBD:c.299A>G	δ	Causative	δ-chain variant	NG_000007.3	63609
3003	CD 100 CCT>TCT [Pro>Ser]	Hb A2-Saurashtra	HBD:c.301C>T	δ	Causative	δ-chain variant	NG_000007.3	63611
3002	CD 104 AGG>AAG [Arg>Lys]	Hb Chori-Burnaby	HBD:c.314G>A	δ	Causative	δ-chain variant	NG_000007.3	63624
1383	CD 104 AGG>AGT	Hb A2-Capri	HBD:c.315G>T	δ	Causative	δ-chain variant	NG_000007.3	63625
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63626
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia	NG_000007.3	63631
1399		Hb Lepore-Boston-Washington	NG_000007.3:g.63632_71046del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63632
1403	(Hb Anti-Lepore P-India)	Hb P-India	NG_000007.3:g.63632_71046dup	δ, β	Causative	δ-chain variant	NG_000007.3	63632
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64336
1512	Laotian (δβ)0 (Thai (δβ)0-thal)	N/A	NG_000007.3:g.(64336_64524)_76866del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64336
1513	Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 )	N/A	NG_000007.3:g.64384_76993del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64384
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64519
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2201	CD 107 G>A [Gly>Asp]	Hb A2-Tianhe	HBD:c.323G>A	δ	Causative	δ-chain variant	NG_000007.3	64531
3235	CD 108 AAT>GAT [Asn>Asp]	Hb A2-Meizhou	HBD:c.325A>G	δ	Causative	δ-chain variant	NG_000007.3	64533
2521	CD 110-111 +GT	N/A	HBD:c.333_334insGT	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64541
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia	NG_000007.3	64549
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64555
1384	CD 116 CGC>TGC [Arg>Cys]	Hb A2-Troodos	HBD:c.349C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64557
1402	(Hb Anti-Lepore P-Congo)	Hb P-Congo	NG_000007.3:g.64557_71923dup	δ, β	Causative	δ-chain variant	NG_000007.3	64557
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia	NG_000007.3	64557
1385	CD 116 CGC>CAC [Arg>His]	Hb A2-Coburg	HBD:c.350G>A	δ	Causative	δ-chain variant	NG_000007.3	64558
3314	CD 116 CGC>CCC [Arg>Pro]	Hb A2-Bornova	HBD:c.350G>C	δ	Causative	δ-chain variant	NG_000007.3	64558
3318	CD 116 CGC>CTC [Arg>Leu] (Hb A2-India)	Hb A2-Lepore	HBD:c.350G>T	δ	Causative	δ-chain variant	NG_000007.3	64558
1386	CD 117 AAC>GAC	Hb A2-Liangcheng	HBD:c.352A>G	δ	Causative	δ-chain variant	NG_000007.3	64560
2574	CD 117 AAC>ACC [Asn>Thr]	Hb A2-Amsterdam	HBD:c.353A>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64561
2363	CD 119 GGC>GAC [Gly>Asp]	Hb A2-Lewisburg	HBD:c.359G>A	δ	Causative	δ-chain variant	NG_000007.3	64567
3843	CD 120 AAG>ACG [Lys>Thr]	Hb A2-Liangqing	HBD:c.362A>C	δ	Causative	δ-chain variant	NG_000007.3	64570
3058	CD 121 GAA>AAA [Glu>Lys]	Hb A2-Fengshun	HBD:c.364G>A	δ	Causative	δ-chain variant	NG_000007.3	64572
1387	CD 121 GAA>GTA	Hb A2-Manzanares	HBD:c.365A>T	δ	Causative	δ-chain variant	NG_000007.3	64573
4012	CD 123 ACC>GCC [Thr>Ala]	Hb A2-Kuching	HBD:c.370A>G	δ	Causative	δ-chain variant	NG_000007.3	64578
1388	CD 125 CAA>GAA	Hb A2-Zagreb	HBD:c.376C>G	δ	Causative	δ-chain variant	NG_000007.3	64584
3867	>6.5 Kb deletion	N/A	NG_000007.3:g.(63032_64585)_(71150_72080)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64585
4034	CD 125 CAA>CGA [Gln>Arg]	Hb A2-Tongchuan	HBD:c.377A>G	δ	Causative	δ-chain variant	NG_000007.3	64585
3546	CD 130 TAT>-AT	Hb A2-Gaslini 1	HBD:c.391delT	δ	Causative	δ-chain variant	NG_000007.3	64599
3490	CD 131 CAG>GAG [Gln>Glu]	Hb A2-Puer	HBD:c.394C>G	δ	Causative	δ-chain variant	NG_000007.3	64602
1389	CD 133 GTG>GCG	Hb A2-Ninive	HBD:c.401T>C	δ	Causative	δ-chain variant	NG_000007.3	64609
3842	CD134 GTG>GAG [Val>Glu]	N/A	HBD:c.404T>A	δ	Causative	δ-thalassaemia	NG_000007.3	64612
1390	CD 136 GGT>GAT [Gly>Asp]	Hb A2-Babinga	HBD:c.410G>A	δ	Causative	δ-chain variant	NG_000007.3	64618
2482	CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park)	Hb Lincoln Park	HBD:c.412_414delGTG	δ	Causative	δ-chain variant, Haemolytic anaemia	NG_000007.3	64620
1391	CD 140 GCC>GTC	Hb A2-Bagheria	HBD:c.422C>T	δ	Causative	δ-chain variant	NG_000007.3	64630
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64633
2524	CD 142 GCT>CCT [Ala>Pro]	N/A	HBD:c.427C>A	δ	Causative	δ-chain variant	NG_000007.3	64635
1393	CD 142 GCT>GAT [Ala>Asp]	Hb A2-Fitzroy	HBD:c.428C>A	δ	Causative	δ-chain variant	NG_000007.3	64636
2560	CD 142 GCT>GTT [Ala>Val]	Hb A2-Episkopi	HBD:c.428C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64636
2392	CD 143 CAC>TAC [His>Tyr]	Hb Noah Mehmet Oeztuerk	HBD:c.430C>T	δ	Causative	δ-chain variant	NG_000007.3	64638
2421	CD 143 CAC>GAC [His>Asp]	Hb A2-Leuven	HBD:c.430C>G	δ	Causative	δ-chain variant	NG_000007.3	64638
2989	CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo)	Hb A2-Leuven II	HBD:c.431A>G	δ	Causative	δ-chain variant	NG_000007.3	64639
3376	CD 144 AAG>GAG [Lys>Glu]	Hb A2-Angola	HBD:c.433A>G	δ	Causative	δ-chain variant	NG_000007.3	64641
2349	CD 144 AAG>ACG [Lys>Thr]	Hb A2-San Floro	HBD:c.434A>C	δ	Causative	δ-chain variant	NG_000007.3	64642
1394	CD 146 CAT>CGT	Hb A2-Monreale	HBD:c.440A>G	δ	Causative	δ-chain variant	NG_000007.3	64648
3269	CD 147 TGA>CGA [Stop>Arg]	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia	NG_000007.3	64650
2520	CD 147 TGA>TTA	N/A	HBD:c.443G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64651
3394	223 kb deletion	N/A	NC_000011.10:g.5010012_5232933del	δ, β	Causative	β-thalassaemia	NG_000007.3	64683
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia	NG_000007.3	64851
4033	Poly A +69 (G>T)	N/A	HBD:c.*199G>T	δ	Causative	δ-thalassaemia	NG_000007.3	64851

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