Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38444211C>T | CA018598 | RYR1 | c.487C>T (p.Arg163Cys) n.570C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38444211C>A | CA405676888 | RYR1 | c.487C>A (p.Arg163Ser) n.570C>A | ClinVar dbSNP |
19 | g.38444211C= | CA2335026035 | RYR1 | c.487C= (p.Arg163=) n.570C= | dbSNP |