Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38620886G>C | CA019420 | SCN5A | c.568C>G (p.Arg190Gly) n.763C>G c.482+1514C>G (n.482+1514C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38620886G>A | CA064632 | SCN5A | c.568C>T (p.Arg190Trp) n.763C>T c.482+1514C>T (n.482+1514C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |