Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38451842C>A | CA405683844 | RYR1 | c.1201C>A (p.Arg401Ser) c.1198C>A (p.Arg400Ser) n.1284C>A | ClinVar dbSNP |
19 | g.38451842C>G | CA023955 | RYR1 | c.1201C>G (p.Arg401Gly) c.1198C>G (p.Arg400Gly) n.1284C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38451842C>T | CA023956 | RYR1 | c.1201C>T (p.Arg401Cys) c.1198C>T (p.Arg400Cys) n.1284C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |