Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38597944A>G | CA015776 | SCN5A | c.2047T>C (p.Cys683Arg) c.1918T>C (p.Cys640Arg) | ClinVar dbSNP |
3 | g.38597944A>C | CA015785 | SCN5A | c.2047T>G (p.Cys683Gly) c.1918T>G (p.Cys640Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38597944A>T | CA352144892 | SCN5A | c.2047T>A (p.Cys683Ser) c.1918T>A (p.Cys640Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |