| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113348277A>G | CA127763 | ANK2 | c.4514A>G (p.Glu1505Gly) c.4454A>G (p.Glu1485Gly) c.1055A>G (p.Glu352Gly) n.413A>G n.2010A>G n.1218A>G n.1989A>G n.3386A>G n.2753A>G n.2099A>G n.2517A>G c.4373A>G (p.Glu1458Gly) c.4211A>G (p.Glu1404Gly) c.1760A>G (p.Glu587Gly) c.83A>G (p.Glu28Gly) c.4187A>G (p.Glu1396Gly) c.4274A>G (p.Glu1425Gly) c.4409A>G (p.Glu1470Gly) c.4310A>G (p.Glu1437Gly) c.4247A>G (p.Glu1416Gly) c.4112A>G (p.Glu1371Gly) c.4190A>G (p.Glu1397Gly) c.3989A>G (p.Glu1330Gly) c.4088A>G (p.Glu1363Gly) c.4418A>G (p.Glu1473Gly) c.4223A>G (p.Glu1408Gly) c.4208A>G (p.Glu1403Gly) c.4196A>G (p.Glu1399Gly) c.4175A>G (p.Glu1392Gly) c.4148A>G (p.Glu1383Gly) c.4346A>G (p.Glu1449Gly) c.1937A>G (p.Glu646Gly) c.3791A>G (p.Glu1264Gly) c.1922A>G (p.Glu641Gly) c.1901A>G (p.Glu634Gly) c.4319A>G (p.Glu1440Gly) c.4171-1951A>G (n.4171-1951A>G) c.3881A>G (p.Glu1294Gly) c.330A>G n.482A>G c.329A>G (p.Glu110Gly) n.20A>G c.1409-1951A>G c.4406A>G (p.Glu1469Gly) c.4370A>G (p.Glu1457Gly) c.4460A>G (p.Glu1487Gly) c.4424A>G (p.Glu1475Gly) c.4459-1951A>G (n.4459-1951A>G) c.4423-1951A>G (n.4423-1951A>G) c.4400A>G (p.Glu1467Gly) c.4445A>G (p.Glu1482Gly) c.4385A>G (p.Glu1462Gly) c.4352A>G (p.Glu1451Gly) c.4415A>G (p.Glu1472Gly) c.4271A>G (p.Glu1424Gly) c.4451A>G (p.Glu1484Gly) c.4343A>G (p.Glu1448Gly) c.4307A>G (p.Glu1436Gly) c.4322A>G (p.Glu1441Gly) c.4232A>G (p.Glu1411Gly) c.4160A>G (p.Glu1387Gly) c.4244A>G (p.Glu1415Gly) c.4073A>G (p.Glu1358Gly) c.4490A>G (p.Glu1497Gly) c.4376A>G (p.Glu1459Gly) c.4186-1951A>G (n.4186-1951A>G) c.4231-1951A>G (n.4231-1951A>G) c.4358A>G (p.Glu1453Gly) c.4430A>G (p.Glu1477Gly) c.3890A>G (p.Glu1297Gly) c.4217A>G (p.Glu1406Gly) c.773A>G (p.Glu258Gly) c.4238A>G (p.Glu1413Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113348277A= | CA2581400001 | ANK2 | c.4514A= (p.Glu1505=) c.4454A= (p.Glu1485=) c.1055A= (p.Glu352=) n.413A= n.2010A= n.1218A= n.1989A= n.3386A= n.2753A= n.2099A= n.2517A= c.4373A= (p.Glu1458=) c.4211A= (p.Glu1404=) c.1760A= (p.Glu587=) c.83A= (p.Glu28=) c.4187A= (p.Glu1396=) c.4274A= (p.Glu1425=) c.4409A= (p.Glu1470=) c.4310A= (p.Glu1437=) c.4247A= (p.Glu1416=) c.4112A= (p.Glu1371=) c.4190A= (p.Glu1397=) c.3989A= (p.Glu1330=) c.4088A= (p.Glu1363=) c.4418A= (p.Glu1473=) c.4223A= (p.Glu1408=) c.4208A= (p.Glu1403=) c.4196A= (p.Glu1399=) c.4175A= (p.Glu1392=) c.4148A= (p.Glu1383=) c.4346A= (p.Glu1449=) c.1937A= (p.Glu646=) c.3791A= (p.Glu1264=) c.1922A= (p.Glu641=) c.1901A= (p.Glu634=) c.4319A= (p.Glu1440=) c.4171-1951A= (n.4171-1951A=) c.3881A= (p.Glu1294=) c.330A= n.482A= c.329A= (p.Glu110=) n.20A= c.1409-1951A= c.4406A= (p.Glu1469=) c.4370A= (p.Glu1457=) c.4460A= (p.Glu1487=) c.4424A= (p.Glu1475=) c.4459-1951A= (n.4459-1951A=) c.4423-1951A= (n.4423-1951A=) c.4400A= (p.Glu1467=) c.4445A= (p.Glu1482=) c.4385A= (p.Glu1462=) c.4352A= (p.Glu1451=) c.4415A= (p.Glu1472=) c.4271A= (p.Glu1424=) c.4451A= (p.Glu1484=) c.4343A= (p.Glu1448=) c.4307A= (p.Glu1436=) c.4322A= (p.Glu1441=) c.4232A= (p.Glu1411=) c.4160A= (p.Glu1387=) c.4244A= (p.Glu1415=) c.4073A= (p.Glu1358=) c.4490A= (p.Glu1497=) c.4376A= (p.Glu1459=) c.4186-1951A= (n.4186-1951A=) c.4231-1951A= (n.4231-1951A=) c.4358A= (p.Glu1453=) c.4430A= (p.Glu1477=) c.3890A= (p.Glu1297=) c.4217A= (p.Glu1406=) c.773A= (p.Glu258=) c.4238A= (p.Glu1413=) | dbSNP |