Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550679C>T | CA064651 | SCN5A | c.5690G>A (p.Arg1897His) c.5693G>A (p.Arg1898His) c.5639G>A (p.Arg1880His) c.5531G>A (p.Arg1844His) c.5594G>A (p.Arg1865His) c.5564G>A (p.Arg1855His) c.5636G>A (p.Arg1879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550679C= | CA1358556389 | SCN5A | c.5690G= (p.Arg1897=) c.5693G= (p.Arg1898=) c.5639G= (p.Arg1880=) c.5531G= (p.Arg1844=) c.5594G= (p.Arg1865=) c.5564G= (p.Arg1855=) c.5636G= (p.Arg1879=) | dbSNP |