Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560374C>T | CA017761 | SCN5A | c.4015G>A (p.Val1339Ile) c.4018G>A (p.Val1340Ile) c.3856G>A (p.Val1286Ile) c.3889G>A (p.Val1297Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560374C>G | CA10587574 | SCN5A | c.4015G>C (p.Val1339Leu) c.4018G>C (p.Val1340Leu) c.3856G>C (p.Val1286Leu) c.3889G>C (p.Val1297Leu) | ClinVar dbSNP gnomAD v4 |