| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38525455C>T | CA023845 | RYR1 | c.10518C>T (n.10518C>T) c.10579C>T (p.Pro3527Ser) c.10564C>T (p.Pro3522Ser) c.10561C>T (p.Pro3521Ser) c.3966C>T c.1386C>T c.10576C>T (p.Pro3526Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38525455C= | CA2335065933 | RYR1 | c.10518C= (n.10518C=) c.10579C= (p.Pro3527=) c.10564C= (p.Pro3522=) c.10561C= (p.Pro3521=) c.3966C= c.1386C= c.10576C= (p.Pro3526=) | dbSNP |