| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414088C>T | CA16043222 | KCNQ2 | c.1577G>A (p.Cys526Tyr) c.1631G>A (p.Cys544Tyr) c.1028G>A (p.Cys343Tyr) c.1538G>A (p.Cys513Tyr) c.1199G>A (p.Cys400Tyr) c.1547G>A (p.Cys516Tyr) c.1511G>A (p.Cys504Tyr) c.688G>A c.239G>A (p.Cys80Tyr) c.1628G>A (p.Cys543Tyr) c.1601G>A (p.Cys534Tyr) c.1505G>A (p.Cys502Tyr) c.1112G>A (p.Cys371Tyr) c.1574G>A (p.Cys525Tyr) c.1508G>A (p.Cys503Tyr) c.539G>A (p.Cys180Tyr) | ClinVar dbSNP |
| 20 | g.63414088C>G | CA409645111 | KCNQ2 | c.1577G>C (p.Cys526Ser) c.1631G>C (p.Cys544Ser) c.1028G>C (p.Cys343Ser) c.1538G>C (p.Cys513Ser) c.1199G>C (p.Cys400Ser) c.1547G>C (p.Cys516Ser) c.1511G>C (p.Cys504Ser) c.688G>C c.239G>C (p.Cys80Ser) c.1628G>C (p.Cys543Ser) c.1601G>C (p.Cys534Ser) c.1505G>C (p.Cys502Ser) c.1112G>C (p.Cys371Ser) c.1574G>C (p.Cys525Ser) c.1508G>C (p.Cys503Ser) c.539G>C (p.Cys180Ser) | ClinVar dbSNP |
| 20 | g.63414088C= | CA2374778282 | KCNQ2 | c.1577G= (p.Cys526=) c.1631G= (p.Cys544=) c.1028G= (p.Cys343=) c.1538G= (p.Cys513=) c.1199G= (p.Cys400=) c.1547G= (p.Cys516=) c.1511G= (p.Cys504=) c.688G= c.239G= (p.Cys80=) c.1628G= (p.Cys543=) c.1601G= (p.Cys534=) c.1505G= (p.Cys502=) c.1112G= (p.Cys371=) c.1574G= (p.Cys525=) c.1508G= (p.Cys503=) c.539G= (p.Cys180=) | dbSNP |