Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560357C>T | CA017787 | SCN5A | c.4032G>A (p.Trp1344Ter) c.4035G>A (p.Trp1345Ter) c.3873G>A (p.Trp1291Ter) c.3906G>A (p.Trp1302Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38560357C>A | CA017796 | SCN5A | c.4032G>T (p.Trp1344Cys) c.4035G>T (p.Trp1345Cys) c.3873G>T (p.Trp1291Cys) c.3906G>T (p.Trp1302Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |