| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113363442C>G | CA199905 | ANK2 | c.11002C>G (p.Leu3668Val) c.4687C>G (p.Leu1563Val) c.1288C>G (p.Leu430Val) c.1786C>G (p.Leu596Val) n.2243C>G n.1451C>G n.2195C>G n.1024C>G n.2986C>G n.1360C>G n.7706C>G n.2332C>G n.2750C>G c.10861C>G (p.Leu3621Val) c.10699C>G (p.Leu3567Val) c.1993C>G (p.Leu665Val) c.316C>G (p.Leu106Val) c.4420C>G (p.Leu1474Val) c.4507C>G (p.Leu1503Val) c.4444C>G (p.Leu1482Val) c.4642C>G (p.Leu1548Val) c.4543C>G (p.Leu1515Val) c.10735C>G (p.Leu3579Val) c.4345C>G (p.Leu1449Val) c.*99C>G (n.*99C>G) c.10678C>G (p.Leu3560Val) c.4222C>G (p.Leu1408Val) c.10675C>G (p.Leu3559Val) c.4321C>G (p.Leu1441Val) c.10906C>G (p.Leu3636Val) c.4456C>G (p.Leu1486Val) c.4441C>G (p.Leu1481Val) c.10942C>G (p.Leu3648Val) c.4429C>G (p.Leu1477Val) c.10663C>G (p.Leu3555Val) c.4381C>G (p.Leu1461Val) c.4579C>G (p.Leu1527Val) c.2170C>G (p.Leu724Val) c.10762C>G (p.Leu3588Val) c.4651C>G (p.Leu1551Val) c.10798C>G (p.Leu3600Val) c.4408C>G (p.Leu1470Val) c.10600C>G (p.Leu3534Val) c.4480C>G (p.Leu1494Val) c.4024C>G (p.Leu1342Val) c.2155C>G (p.Leu719Val) c.10576C>G (p.Leu3526Val) c.2134C>G (p.Leu712Val) c.10807C>G (p.Leu3603Val) c.4372C>G (p.Leu1458Val) c.4114C>G (p.Leu1372Val) c.10636C>G (p.Leu3546Val) c.4606C>G (p.Leu1536Val) c.1891C>G (p.Leu631Val) n.715C>G c.562C>G (p.Leu188Val) c.1610C>G c.*2222C>G (n.*2222C>G) c.10894C>G (p.Leu3632Val) c.4603C>G (p.Leu1535Val) c.10948C>G (p.Leu3650Val) c.10912C>G (p.Leu3638Val) c.4660C>G (p.Leu1554Val) c.4693C>G (p.Leu1565Val) c.4624C>G (p.Leu1542Val) c.10888C>G (p.Leu3630Val) c.10933C>G (p.Leu3645Val) c.4618C>G (p.Leu1540Val) c.4585C>G (p.Leu1529Val) c.4648C>G (p.Leu1550Val) c.4504C>G (p.Leu1502Val) c.4684C>G (p.Leu1562Val) c.4576C>G (p.Leu1526Val) c.4540C>G (p.Leu1514Val) c.4555C>G (p.Leu1519Val) c.4465C>G (p.Leu1489Val) c.4393C>G (p.Leu1465Val) c.4477C>G (p.Leu1493Val) c.4306C>G (p.Leu1436Val) c.10978C>G (p.Leu3660Val) c.10864C>G (p.Leu3622Val) c.10834C>G (p.Leu3612Val) c.10897C>G (p.Leu3633Val) c.10627C>G (p.Leu3543Val) c.4387C>G (p.Leu1463Val) c.4432C>G (p.Leu1478Val) c.4591C>G (p.Leu1531Val) c.4663C>G (p.Leu1555Val) c.4123C>G (p.Leu1375Val) c.4450C>G (p.Leu1484Val) c.7261C>G (p.Leu2421Val) c.1006C>G (p.Leu336Val) c.4471C>G (p.Leu1491Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113363442C>A | CA357941400 | ANK2 | c.11002C>A (p.Leu3668Ile) c.4687C>A (p.Leu1563Ile) c.1288C>A (p.Leu430Ile) c.1786C>A (p.Leu596Ile) n.2243C>A n.1451C>A n.2195C>A n.1024C>A n.2986C>A n.1360C>A n.7706C>A n.2332C>A n.2750C>A c.10861C>A (p.Leu3621Ile) c.10699C>A (p.Leu3567Ile) c.1993C>A (p.Leu665Ile) c.316C>A (p.Leu106Ile) c.4420C>A (p.Leu1474Ile) c.4507C>A (p.Leu1503Ile) c.4444C>A (p.Leu1482Ile) c.4642C>A (p.Leu1548Ile) c.4543C>A (p.Leu1515Ile) c.10735C>A (p.Leu3579Ile) c.4345C>A (p.Leu1449Ile) c.*99C>A (n.*99C>A) c.10678C>A (p.Leu3560Ile) c.4222C>A (p.Leu1408Ile) c.10675C>A (p.Leu3559Ile) c.4321C>A (p.Leu1441Ile) c.10906C>A (p.Leu3636Ile) c.4456C>A (p.Leu1486Ile) c.4441C>A (p.Leu1481Ile) c.10942C>A (p.Leu3648Ile) c.4429C>A (p.Leu1477Ile) c.10663C>A (p.Leu3555Ile) c.4381C>A (p.Leu1461Ile) c.4579C>A (p.Leu1527Ile) c.2170C>A (p.Leu724Ile) c.10762C>A (p.Leu3588Ile) c.4651C>A (p.Leu1551Ile) c.10798C>A (p.Leu3600Ile) c.4408C>A (p.Leu1470Ile) c.10600C>A (p.Leu3534Ile) c.4480C>A (p.Leu1494Ile) c.4024C>A (p.Leu1342Ile) c.2155C>A (p.Leu719Ile) c.10576C>A (p.Leu3526Ile) c.2134C>A (p.Leu712Ile) c.10807C>A (p.Leu3603Ile) c.4372C>A (p.Leu1458Ile) c.4114C>A (p.Leu1372Ile) c.10636C>A (p.Leu3546Ile) c.4606C>A (p.Leu1536Ile) c.1891C>A (p.Leu631Ile) n.715C>A c.562C>A (p.Leu188Ile) c.1610C>A c.*2222C>A (n.*2222C>A) c.10894C>A (p.Leu3632Ile) c.4603C>A (p.Leu1535Ile) c.10948C>A (p.Leu3650Ile) c.10912C>A (p.Leu3638Ile) c.4660C>A (p.Leu1554Ile) c.4693C>A (p.Leu1565Ile) c.4624C>A (p.Leu1542Ile) c.10888C>A (p.Leu3630Ile) c.10933C>A (p.Leu3645Ile) c.4618C>A (p.Leu1540Ile) c.4585C>A (p.Leu1529Ile) c.4648C>A (p.Leu1550Ile) c.4504C>A (p.Leu1502Ile) c.4684C>A (p.Leu1562Ile) c.4576C>A (p.Leu1526Ile) c.4540C>A (p.Leu1514Ile) c.4555C>A (p.Leu1519Ile) c.4465C>A (p.Leu1489Ile) c.4393C>A (p.Leu1465Ile) c.4477C>A (p.Leu1493Ile) c.4306C>A (p.Leu1436Ile) c.10978C>A (p.Leu3660Ile) c.10864C>A (p.Leu3622Ile) c.10834C>A (p.Leu3612Ile) c.10897C>A (p.Leu3633Ile) c.10627C>A (p.Leu3543Ile) c.4387C>A (p.Leu1463Ile) c.4432C>A (p.Leu1478Ile) c.4591C>A (p.Leu1531Ile) c.4663C>A (p.Leu1555Ile) c.4123C>A (p.Leu1375Ile) c.4450C>A (p.Leu1484Ile) c.7261C>A (p.Leu2421Ile) c.1006C>A (p.Leu336Ile) c.4471C>A (p.Leu1491Ile) | dbSNP gnomAD v4 |
| 4 | g.113363442C= | CA2581440704 | ANK2 | c.11002C= (p.Leu3668=) c.4687C= (p.Leu1563=) c.1288C= (p.Leu430=) c.1786C= (p.Leu596=) n.2243C= n.1451C= n.2195C= n.1024C= n.2986C= n.1360C= n.7706C= n.2332C= n.2750C= c.10861C= (p.Leu3621=) c.10699C= (p.Leu3567=) c.1993C= (p.Leu665=) c.316C= (p.Leu106=) c.4420C= (p.Leu1474=) c.4507C= (p.Leu1503=) c.4444C= (p.Leu1482=) c.4642C= (p.Leu1548=) c.4543C= (p.Leu1515=) c.10735C= (p.Leu3579=) c.4345C= (p.Leu1449=) c.*99C= (n.*99C=) c.10678C= (p.Leu3560=) c.4222C= (p.Leu1408=) c.10675C= (p.Leu3559=) c.4321C= (p.Leu1441=) c.10906C= (p.Leu3636=) c.4456C= (p.Leu1486=) c.4441C= (p.Leu1481=) c.10942C= (p.Leu3648=) c.4429C= (p.Leu1477=) c.10663C= (p.Leu3555=) c.4381C= (p.Leu1461=) c.4579C= (p.Leu1527=) c.2170C= (p.Leu724=) c.10762C= (p.Leu3588=) c.4651C= (p.Leu1551=) c.10798C= (p.Leu3600=) c.4408C= (p.Leu1470=) c.10600C= (p.Leu3534=) c.4480C= (p.Leu1494=) c.4024C= (p.Leu1342=) c.2155C= (p.Leu719=) c.10576C= (p.Leu3526=) c.2134C= (p.Leu712=) c.10807C= (p.Leu3603=) c.4372C= (p.Leu1458=) c.4114C= (p.Leu1372=) c.10636C= (p.Leu3546=) c.4606C= (p.Leu1536=) c.1891C= (p.Leu631=) n.715C= c.562C= (p.Leu188=) c.1610C= c.*2222C= (n.*2222C=) c.10894C= (p.Leu3632=) c.4603C= (p.Leu1535=) c.10948C= (p.Leu3650=) c.10912C= (p.Leu3638=) c.4660C= (p.Leu1554=) c.4693C= (p.Leu1565=) c.4624C= (p.Leu1542=) c.10888C= (p.Leu3630=) c.10933C= (p.Leu3645=) c.4618C= (p.Leu1540=) c.4585C= (p.Leu1529=) c.4648C= (p.Leu1550=) c.4504C= (p.Leu1502=) c.4684C= (p.Leu1562=) c.4576C= (p.Leu1526=) c.4540C= (p.Leu1514=) c.4555C= (p.Leu1519=) c.4465C= (p.Leu1489=) c.4393C= (p.Leu1465=) c.4477C= (p.Leu1493=) c.4306C= (p.Leu1436=) c.10978C= (p.Leu3660=) c.10864C= (p.Leu3622=) c.10834C= (p.Leu3612=) c.10897C= (p.Leu3633=) c.10627C= (p.Leu3543=) c.4387C= (p.Leu1463=) c.4432C= (p.Leu1478=) c.4591C= (p.Leu1531=) c.4663C= (p.Leu1555=) c.4123C= (p.Leu1375=) c.4450C= (p.Leu1484=) c.7261C= (p.Leu2421=) c.1006C= (p.Leu336=) c.4471C= (p.Leu1491=) | dbSNP |