Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113367619G>ACA329730ANK2c.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
4g.113367619G>CCA3052228ANK2c.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
4g.113367619G=CA3111603563ANK2c.11227G= (p.Glu3743=)
c.4912G= (p.Glu1638=)
c.1513G= (p.Glu505=)
c.2011G= (p.Glu671=)
n.2468G=
n.1676G=
n.2420G=
n.1249G=
n.3211G=
n.1192G=
n.1585G=
n.7931G=
n.2557G=
n.541G=
n.2975G=
n.1190G=
c.11086G= (p.Glu3696=)
c.10924G= (p.Glu3642=)
c.2218G= (p.Glu740=)
c.541G= (p.Glu181=)
c.4645G= (p.Glu1549=)
c.4732G= (p.Glu1578=)
c.4669G= (p.Glu1557=)
c.4867G= (p.Glu1623=)
c.4768G= (p.Glu1590=)
c.10960G= (p.Glu3654=)
c.4570G= (p.Glu1524=)
c.*324G= (n.*324G=)
c.10903G= (p.Glu3635=)
c.4447G= (p.Glu1483=)
c.10900G= (p.Glu3634=)
c.4546G= (p.Glu1516=)
c.11131G= (p.Glu3711=)
c.4681G= (p.Glu1561=)
c.4666G= (p.Glu1556=)
c.11167G= (p.Glu3723=)
c.4654G= (p.Glu1552=)
c.10888G= (p.Glu3630=)
c.4606G= (p.Glu1536=)
c.4804G= (p.Glu1602=)
c.2395G= (p.Glu799=)
c.10987G= (p.Glu3663=)
c.4876G= (p.Glu1626=)
c.11023G= (p.Glu3675=)
c.4633G= (p.Glu1545=)
c.10825G= (p.Glu3609=)
c.4705G= (p.Glu1569=)
c.4249G= (p.Glu1417=)
c.2380G= (p.Glu794=)
c.10801G= (p.Glu3601=)
c.2359G= (p.Glu787=)
c.11032G= (p.Glu3678=)
c.4597G= (p.Glu1533=)
c.4339G= (p.Glu1447=)
c.10861G= (p.Glu3621=)
c.4831G= (p.Glu1611=)
c.2116G= (p.Glu706=)
c.787G= (p.Glu263=)
c.1835G=
c.*2447G= (n.*2447G=)
c.11119G= (p.Glu3707=)
c.4828G= (p.Glu1610=)
c.11173G= (p.Glu3725=)
c.11137G= (p.Glu3713=)
c.4885G= (p.Glu1629=)
c.4918G= (p.Glu1640=)
c.4849G= (p.Glu1617=)
c.11113G= (p.Glu3705=)
c.11158G= (p.Glu3720=)
c.4843G= (p.Glu1615=)
c.4810G= (p.Glu1604=)
c.4873G= (p.Glu1625=)
c.4729G= (p.Glu1577=)
c.4909G= (p.Glu1637=)
c.4801G= (p.Glu1601=)
c.4765G= (p.Glu1589=)
c.4780G= (p.Glu1594=)
c.4690G= (p.Glu1564=)
c.4618G= (p.Glu1540=)
c.4702G= (p.Glu1568=)
c.4531G= (p.Glu1511=)
c.11203G= (p.Glu3735=)
c.11089G= (p.Glu3697=)
c.11059G= (p.Glu3687=)
c.11122G= (p.Glu3708=)
c.10852G= (p.Glu3618=)
c.4612G= (p.Glu1538=)
c.4657G= (p.Glu1553=)
c.4816G= (p.Glu1606=)
c.4888G= (p.Glu1630=)
c.4348G= (p.Glu1450=)
c.4675G= (p.Glu1559=)
c.7486G= (p.Glu2496=)
c.1231G= (p.Glu411=)
c.4696G= (p.Glu1566=)
 dbSNP

Number of alleles fetched