Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603950G>C | CA352146950 | SCN5A | c.1652C>G (p.Ala551Gly) c.1523C>G (p.Ala508Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38603950G>T | CA352146953 | SCN5A | c.1652C>A (p.Ala551Glu) c.1523C>A (p.Ala508Glu) | ClinVar dbSNP |
3 | g.38603950G>A | CA015094 | SCN5A | c.1652C>T (p.Ala551Val) c.1523C>T (p.Ala508Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |