| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551513G>A | CA018653 | SCN5A | c.4856C>T (p.Thr1619Met) c.4859C>T (p.Thr1620Met) c.4805C>T (p.Thr1602Met) c.4697C>T (p.Thr1566Met) c.4760C>T (p.Thr1587Met) c.4730C>T (p.Thr1577Met) c.4802C>T (p.Thr1601Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551513G>T | CA018648 | SCN5A | c.4856C>A (p.Thr1619Lys) c.4859C>A (p.Thr1620Lys) c.4805C>A (p.Thr1602Lys) c.4697C>A (p.Thr1566Lys) c.4760C>A (p.Thr1587Lys) c.4730C>A (p.Thr1577Lys) c.4802C>A (p.Thr1601Lys) | ClinVar dbSNP |
| 3 | g.38551513G= | CA1358558272 | SCN5A | c.4856C= (p.Thr1619=) c.4859C= (p.Thr1620=) c.4805C= (p.Thr1602=) c.4697C= (p.Thr1566=) c.4760C= (p.Thr1587=) c.4730C= (p.Thr1577=) c.4802C= (p.Thr1601=) | dbSNP |