Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38604062C>A | CA014960 | SCN5A | c.1540G>T (p.Gly514Cys) c.1411G>T (p.Gly471Cys) | ClinVar dbSNP |
3 | g.38604062C= | CA1358585042 | SCN5A | c.1540G= (p.Gly514=) c.1411G= (p.Gly471=) | dbSNP |
3 | g.38604062C>G | CA352147533 | SCN5A | c.1540G>C (p.Gly514Arg) c.1411G>C (p.Gly471Arg) | dbSNP |
3 | g.38604062C>T | CA352147531 | SCN5A | c.1540G>A (p.Gly514Ser) c.1411G>A (p.Gly471Ser) | dbSNP gnomAD v4 |