Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38597787G>T | CA015938 | SCN5A | c.2204C>A (p.Ala735Glu) c.2075C>A (p.Ala692Glu) | ClinVar dbSNP |
3 | g.38597787G>C | CA352144545 | SCN5A | c.2204C>G (p.Ala735Gly) c.2075C>G (p.Ala692Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38597787G>A | CA015951 | SCN5A | c.2204C>T (p.Ala735Val) c.2075C>T (p.Ala692Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |