| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551438G>A | CA018766 | SCN5A | c.4931C>T (p.Thr1644Met) c.4934C>T (p.Thr1645Met) c.4880C>T (p.Thr1627Met) c.4772C>T (p.Thr1591Met) c.4835C>T (p.Thr1612Met) c.4805C>T (p.Thr1602Met) c.4877C>T (p.Thr1626Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551438G>T | CA352142941 | SCN5A | c.4931C>A (p.Thr1644Lys) c.4934C>A (p.Thr1645Lys) c.4880C>A (p.Thr1627Lys) c.4772C>A (p.Thr1591Lys) c.4835C>A (p.Thr1612Lys) c.4805C>A (p.Thr1602Lys) c.4877C>A (p.Thr1626Lys) | dbSNP |