Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38609881C>G | CA352150761 | SCN5A | c.787G>C (p.Val263Leu) c.658G>C (p.Val220Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38609881C>T | CA019796 | SCN5A | c.787G>A (p.Val263Ile) c.658G>A (p.Val220Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38609881C= | CA1358587703 | SCN5A | c.787G= (p.Val263=) c.658G= (p.Val220=) | dbSNP |