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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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IthaGenes was last updated on 2024-12-03 11:48:06