Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38562531G>A | CA062398 | SCN5A | c.3844C>T (p.Leu1282=) c.3847C>T (p.Leu1283=) c.3685C>T (p.Leu1229=) c.3718C>T (p.Leu1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562531G>T | CA017562 | SCN5A | c.3844C>A (p.Leu1282Met) c.3847C>A (p.Leu1283Met) c.3685C>A (p.Leu1229Met) c.3718C>A (p.Leu1240Met) | ClinVar dbSNP gnomAD v4 |