| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38455528C>T | CA024299 | RYR1 | c.1654C>T (p.Arg552Trp) c.1651C>T (p.Arg551Trp) n.1737C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38455528C>A | CA507352628 | RYR1 | c.1654C>A (p.Arg552=) c.1651C>A (p.Arg551=) n.1737C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38455528C= | CA2335031326 | RYR1 | c.1654C= (p.Arg552=) c.1651C= (p.Arg551=) n.1737C= | dbSNP |