Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113367619G>A | CA329730 | ANK2 | c.11227G>A (p.Glu3743Lys) c.4912G>A (p.Glu1638Lys) c.1513G>A (p.Glu505Lys) c.2011G>A (p.Glu671Lys) n.2468G>A n.1676G>A n.2420G>A n.1249G>A n.3211G>A n.1192G>A n.1585G>A n.7931G>A n.2557G>A n.541G>A n.2975G>A n.1190G>A c.11086G>A (p.Glu3696Lys) c.10924G>A (p.Glu3642Lys) c.2218G>A (p.Glu740Lys) c.541G>A (p.Glu181Lys) c.4645G>A (p.Glu1549Lys) c.4732G>A (p.Glu1578Lys) c.4669G>A (p.Glu1557Lys) c.4867G>A (p.Glu1623Lys) c.4768G>A (p.Glu1590Lys) c.10960G>A (p.Glu3654Lys) c.4570G>A (p.Glu1524Lys) c.*324G>A (n.*324G>A) c.10903G>A (p.Glu3635Lys) c.4447G>A (p.Glu1483Lys) c.10900G>A (p.Glu3634Lys) c.4546G>A (p.Glu1516Lys) c.11131G>A (p.Glu3711Lys) c.4681G>A (p.Glu1561Lys) c.4666G>A (p.Glu1556Lys) c.11167G>A (p.Glu3723Lys) c.4654G>A (p.Glu1552Lys) c.10888G>A (p.Glu3630Lys) c.4606G>A (p.Glu1536Lys) c.4804G>A (p.Glu1602Lys) c.2395G>A (p.Glu799Lys) c.10987G>A (p.Glu3663Lys) c.4876G>A (p.Glu1626Lys) c.11023G>A (p.Glu3675Lys) c.4633G>A (p.Glu1545Lys) c.10825G>A (p.Glu3609Lys) c.4705G>A (p.Glu1569Lys) c.4249G>A (p.Glu1417Lys) c.2380G>A (p.Glu794Lys) c.10801G>A (p.Glu3601Lys) c.2359G>A (p.Glu787Lys) c.11032G>A (p.Glu3678Lys) c.4597G>A (p.Glu1533Lys) c.4339G>A (p.Glu1447Lys) c.10861G>A (p.Glu3621Lys) c.4831G>A (p.Glu1611Lys) c.2116G>A (p.Glu706Lys) c.787G>A (p.Glu263Lys) c.1835G>A c.*2447G>A (n.*2447G>A) c.11119G>A (p.Glu3707Lys) c.4828G>A (p.Glu1610Lys) c.11173G>A (p.Glu3725Lys) c.11137G>A (p.Glu3713Lys) c.4885G>A (p.Glu1629Lys) c.4918G>A (p.Glu1640Lys) c.4849G>A (p.Glu1617Lys) c.11113G>A (p.Glu3705Lys) c.11158G>A (p.Glu3720Lys) c.4843G>A (p.Glu1615Lys) c.4810G>A (p.Glu1604Lys) c.4873G>A (p.Glu1625Lys) c.4729G>A (p.Glu1577Lys) c.4909G>A (p.Glu1637Lys) c.4801G>A (p.Glu1601Lys) c.4765G>A (p.Glu1589Lys) c.4780G>A (p.Glu1594Lys) c.4690G>A (p.Glu1564Lys) c.4618G>A (p.Glu1540Lys) c.4702G>A (p.Glu1568Lys) c.4531G>A (p.Glu1511Lys) c.11203G>A (p.Glu3735Lys) c.11089G>A (p.Glu3697Lys) c.11059G>A (p.Glu3687Lys) c.11122G>A (p.Glu3708Lys) c.10852G>A (p.Glu3618Lys) c.4612G>A (p.Glu1538Lys) c.4657G>A (p.Glu1553Lys) c.4816G>A (p.Glu1606Lys) c.4888G>A (p.Glu1630Lys) c.4348G>A (p.Glu1450Lys) c.4675G>A (p.Glu1559Lys) c.7486G>A (p.Glu2496Lys) c.1231G>A (p.Glu411Lys) c.4696G>A (p.Glu1566Lys) | ClinVar dbSNP gnomAD v4 |
4 | g.113367619G>C | CA3052228 | ANK2 | c.11227G>C (p.Glu3743Gln) c.4912G>C (p.Glu1638Gln) c.1513G>C (p.Glu505Gln) c.2011G>C (p.Glu671Gln) n.2468G>C n.1676G>C n.2420G>C n.1249G>C n.3211G>C n.1192G>C n.1585G>C n.7931G>C n.2557G>C n.541G>C n.2975G>C n.1190G>C c.11086G>C (p.Glu3696Gln) c.10924G>C (p.Glu3642Gln) c.2218G>C (p.Glu740Gln) c.541G>C (p.Glu181Gln) c.4645G>C (p.Glu1549Gln) c.4732G>C (p.Glu1578Gln) c.4669G>C (p.Glu1557Gln) c.4867G>C (p.Glu1623Gln) c.4768G>C (p.Glu1590Gln) c.10960G>C (p.Glu3654Gln) c.4570G>C (p.Glu1524Gln) c.*324G>C (n.*324G>C) c.10903G>C (p.Glu3635Gln) c.4447G>C (p.Glu1483Gln) c.10900G>C (p.Glu3634Gln) c.4546G>C (p.Glu1516Gln) c.11131G>C (p.Glu3711Gln) c.4681G>C (p.Glu1561Gln) c.4666G>C (p.Glu1556Gln) c.11167G>C (p.Glu3723Gln) c.4654G>C (p.Glu1552Gln) c.10888G>C (p.Glu3630Gln) c.4606G>C (p.Glu1536Gln) c.4804G>C (p.Glu1602Gln) c.2395G>C (p.Glu799Gln) c.10987G>C (p.Glu3663Gln) c.4876G>C (p.Glu1626Gln) c.11023G>C (p.Glu3675Gln) c.4633G>C (p.Glu1545Gln) c.10825G>C (p.Glu3609Gln) c.4705G>C (p.Glu1569Gln) c.4249G>C (p.Glu1417Gln) c.2380G>C (p.Glu794Gln) c.10801G>C (p.Glu3601Gln) c.2359G>C (p.Glu787Gln) c.11032G>C (p.Glu3678Gln) c.4597G>C (p.Glu1533Gln) c.4339G>C (p.Glu1447Gln) c.10861G>C (p.Glu3621Gln) c.4831G>C (p.Glu1611Gln) c.2116G>C (p.Glu706Gln) c.787G>C (p.Glu263Gln) c.1835G>C c.*2447G>C (n.*2447G>C) c.11119G>C (p.Glu3707Gln) c.4828G>C (p.Glu1610Gln) c.11173G>C (p.Glu3725Gln) c.11137G>C (p.Glu3713Gln) c.4885G>C (p.Glu1629Gln) c.4918G>C (p.Glu1640Gln) c.4849G>C (p.Glu1617Gln) c.11113G>C (p.Glu3705Gln) c.11158G>C (p.Glu3720Gln) c.4843G>C (p.Glu1615Gln) c.4810G>C (p.Glu1604Gln) c.4873G>C (p.Glu1625Gln) c.4729G>C (p.Glu1577Gln) c.4909G>C (p.Glu1637Gln) c.4801G>C (p.Glu1601Gln) c.4765G>C (p.Glu1589Gln) c.4780G>C (p.Glu1594Gln) c.4690G>C (p.Glu1564Gln) c.4618G>C (p.Glu1540Gln) c.4702G>C (p.Glu1568Gln) c.4531G>C (p.Glu1511Gln) c.11203G>C (p.Glu3735Gln) c.11089G>C (p.Glu3697Gln) c.11059G>C (p.Glu3687Gln) c.11122G>C (p.Glu3708Gln) c.10852G>C (p.Glu3618Gln) c.4612G>C (p.Glu1538Gln) c.4657G>C (p.Glu1553Gln) c.4816G>C (p.Glu1606Gln) c.4888G>C (p.Glu1630Gln) c.4348G>C (p.Glu1450Gln) c.4675G>C (p.Glu1559Gln) c.7486G>C (p.Glu2496Gln) c.1231G>C (p.Glu411Gln) c.4696G>C (p.Glu1566Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |