Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38562456G>A | CA017626 | SCN5A | c.3919C>T (p.Leu1307Phe) c.3922C>T (p.Leu1308Phe) c.3760C>T (p.Leu1254Phe) c.3793C>T (p.Leu1265Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562456G= | CA1358566712 | SCN5A | c.3919C= (p.Leu1307=) c.3922C= (p.Leu1308=) c.3760C= (p.Leu1254=) c.3793C= (p.Leu1265=) | dbSNP |