Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38455471C>A | CA10607101 | RYR1 | c.1597C>A (p.Arg533Ser) c.1594C>A (p.Arg532Ser) n.1680C>A | ClinVar dbSNP |
19 | g.38455471C>T | CA024293 | RYR1 | c.1597C>T (p.Arg533Cys) c.1594C>T (p.Arg532Cys) n.1680C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38455471C>G | CA308123317 | RYR1 | c.1597C>G (p.Arg533Gly) c.1594C>G (p.Arg532Gly) n.1680C>G | dbSNP |