| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113264933G>T | CA357930955 | ANK2 | c.1474G>T (p.Gly492Trp) c.1468G>T (p.Gly490Trp) n.4848G>T n.1630G>T n.1771G>T n.1559G>T n.1435G>T n.598G>T n.519G>T c.1423G>T (p.Gly475Trp) c.1360G>T (p.Gly454Trp) c.1336G>T (p.Gly446Trp) c.1339G>T (p.Gly447Trp) c.1138G>T (p.Gly380Trp) c.940G>T (p.Gly314Trp) c.994G>T (p.Gly332Trp) c.1189G>T (p.Gly397Trp) c.1519G>T (p.Gly507Trp) c.1495G>T (p.Gly499Trp) c.1405G>T (p.Gly469Trp) c.1381G>T (p.Gly461Trp) c.1213G>T (p.Gly405Trp) c.1225G>T (p.Gly409Trp) c.1450G>T (p.Gly484Trp) c.1411G>T (p.Gly471Trp) c.1387G>T (p.Gly463Trp) | dbSNP gnomAD v4 |
| 4 | g.113264933G>A | CA145045 | ANK2 | c.1474G>A (p.Gly492Arg) c.1468G>A (p.Gly490Arg) n.4848G>A n.1630G>A n.1771G>A n.1559G>A n.1435G>A n.598G>A n.519G>A c.1423G>A (p.Gly475Arg) c.1360G>A (p.Gly454Arg) c.1336G>A (p.Gly446Arg) c.1339G>A (p.Gly447Arg) c.1138G>A (p.Gly380Arg) c.940G>A (p.Gly314Arg) c.994G>A (p.Gly332Arg) c.1189G>A (p.Gly397Arg) c.1519G>A (p.Gly507Arg) c.1495G>A (p.Gly499Arg) c.1405G>A (p.Gly469Arg) c.1381G>A (p.Gly461Arg) c.1213G>A (p.Gly405Arg) c.1225G>A (p.Gly409Arg) c.1450G>A (p.Gly484Arg) c.1411G>A (p.Gly471Arg) c.1387G>A (p.Gly463Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113264933G= | CA3111523066 | ANK2 | c.1474G= (p.Gly492=) c.1468G= (p.Gly490=) n.4848G= n.1630G= n.1771G= n.1559G= n.1435G= n.598G= n.519G= c.1423G= (p.Gly475=) c.1360G= (p.Gly454=) c.1336G= (p.Gly446=) c.1339G= (p.Gly447=) c.1138G= (p.Gly380=) c.940G= (p.Gly314=) c.994G= (p.Gly332=) c.1189G= (p.Gly397=) c.1519G= (p.Gly507=) c.1495G= (p.Gly499=) c.1405G= (p.Gly469=) c.1381G= (p.Gly461=) c.1213G= (p.Gly405=) c.1225G= (p.Gly409=) c.1450G= (p.Gly484=) c.1411G= (p.Gly471=) c.1387G= (p.Gly463=) | dbSNP |