| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113345961C>T | CA300913 | ANK2 | c.4451C>T (p.Thr1484Met) c.4391C>T (p.Thr1464Met) c.992C>T (p.Thr331Met) n.2493C>T n.1947C>T n.1155C>T n.5947C>T n.3824C>T n.1926C>T n.3323C>T n.2690C>T n.2036C>T n.2454C>T c.4310C>T (p.Thr1437Met) c.4148C>T (p.Thr1383Met) c.1697C>T (p.Thr566Met) c.20C>T (p.Thr7Met) c.4124C>T (p.Thr1375Met) c.4211C>T (p.Thr1404Met) c.4346C>T (p.Thr1449Met) c.4247C>T (p.Thr1416Met) c.4184C>T (p.Thr1395Met) c.4049C>T (p.Thr1350Met) c.4127C>T (p.Thr1376Met) c.3926C>T (p.Thr1309Met) c.4025C>T (p.Thr1342Met) c.4355C>T (p.Thr1452Met) c.4160C>T (p.Thr1387Met) c.4145C>T (p.Thr1382Met) c.4133C>T (p.Thr1378Met) c.4112C>T (p.Thr1371Met) c.4085C>T (p.Thr1362Met) c.4283C>T (p.Thr1428Met) c.1874C>T (p.Thr625Met) c.3728C>T (p.Thr1243Met) c.1859C>T (p.Thr620Met) c.1838C>T (p.Thr613Met) c.4256C>T (p.Thr1419Met) c.4109C>T (p.Thr1370Met) c.3818C>T (p.Thr1273Met) c.267C>T c.266C>T (p.Thr89Met) c.1347C>T c.4343C>T (p.Thr1448Met) c.4307C>T (p.Thr1436Met) c.4397C>T (p.Thr1466Met) c.4361C>T (p.Thr1454Met) c.4337C>T (p.Thr1446Met) c.4382C>T (p.Thr1461Met) c.4322C>T (p.Thr1441Met) c.4289C>T (p.Thr1430Met) c.4352C>T (p.Thr1451Met) c.4208C>T (p.Thr1403Met) c.4388C>T (p.Thr1463Met) c.4280C>T (p.Thr1427Met) c.4244C>T (p.Thr1415Met) c.4259C>T (p.Thr1420Met) c.4169C>T (p.Thr1390Met) c.4097C>T (p.Thr1366Met) c.4181C>T (p.Thr1394Met) c.4010C>T (p.Thr1337Met) c.4427C>T (p.Thr1476Met) c.4313C>T (p.Thr1438Met) c.4295C>T (p.Thr1432Met) c.4367C>T (p.Thr1456Met) c.3827C>T (p.Thr1276Met) c.4154C>T (p.Thr1385Met) c.710C>T (p.Thr237Met) c.4175C>T (p.Thr1392Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113345961C= | CA3111560886 | ANK2 | c.4451C= (p.Thr1484=) c.4391C= (p.Thr1464=) c.992C= (p.Thr331=) n.2493C= n.1947C= n.1155C= n.5947C= n.3824C= n.1926C= n.3323C= n.2690C= n.2036C= n.2454C= c.4310C= (p.Thr1437=) c.4148C= (p.Thr1383=) c.1697C= (p.Thr566=) c.20C= (p.Thr7=) c.4124C= (p.Thr1375=) c.4211C= (p.Thr1404=) c.4346C= (p.Thr1449=) c.4247C= (p.Thr1416=) c.4184C= (p.Thr1395=) c.4049C= (p.Thr1350=) c.4127C= (p.Thr1376=) c.3926C= (p.Thr1309=) c.4025C= (p.Thr1342=) c.4355C= (p.Thr1452=) c.4160C= (p.Thr1387=) c.4145C= (p.Thr1382=) c.4133C= (p.Thr1378=) c.4112C= (p.Thr1371=) c.4085C= (p.Thr1362=) c.4283C= (p.Thr1428=) c.1874C= (p.Thr625=) c.3728C= (p.Thr1243=) c.1859C= (p.Thr620=) c.1838C= (p.Thr613=) c.4256C= (p.Thr1419=) c.4109C= (p.Thr1370=) c.3818C= (p.Thr1273=) c.267C= c.266C= (p.Thr89=) c.1347C= c.4343C= (p.Thr1448=) c.4307C= (p.Thr1436=) c.4397C= (p.Thr1466=) c.4361C= (p.Thr1454=) c.4337C= (p.Thr1446=) c.4382C= (p.Thr1461=) c.4322C= (p.Thr1441=) c.4289C= (p.Thr1430=) c.4352C= (p.Thr1451=) c.4208C= (p.Thr1403=) c.4388C= (p.Thr1463=) c.4280C= (p.Thr1427=) c.4244C= (p.Thr1415=) c.4259C= (p.Thr1420=) c.4169C= (p.Thr1390=) c.4097C= (p.Thr1366=) c.4181C= (p.Thr1394=) c.4010C= (p.Thr1337=) c.4427C= (p.Thr1476=) c.4313C= (p.Thr1438=) c.4295C= (p.Thr1432=) c.4367C= (p.Thr1456=) c.3827C= (p.Thr1276=) c.4154C= (p.Thr1385=) c.710C= (p.Thr237=) c.4175C= (p.Thr1392=) | dbSNP |