Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38598981C>A | CA352145076 | SCN5A | c.1960G>T (p.Glu654Ter) c.1831G>T (p.Glu611Ter) | dbSNP |
3 | g.38598981C>G | CA352145077 | SCN5A | c.1960G>C (p.Glu654Gln) c.1831G>C (p.Glu611Gln) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
3 | g.38598981C>T | CA015639 | SCN5A | c.1960G>A (p.Glu654Lys) c.1831G>A (p.Glu611Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |