Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38587413C>G | CA016130 | SCN5A | c.2423G>C (p.Arg808Pro) c.2294G>C (p.Arg765Pro) | ClinVar dbSNP |
3 | g.38587413C>T | CA016124 | SCN5A | c.2423G>A (p.Arg808His) c.2294G>A (p.Arg765His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587413C= | CA1358578139 | SCN5A | c.2423G= (p.Arg808=) c.2294G= (p.Arg765=) | dbSNP |