| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543816T>C | CA023949 | RYR1 | c.363T>C c.345T>C c.11953T>C (p.Trp3985Arg) c.11938T>C (p.Trp3980Arg) c.11935T>C (p.Trp3979Arg) c.562T>C c.5322T>C c.11920T>C (p.Trp3974Arg) c.11950T>C (p.Trp3984Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543816T= | CA2335074538 | RYR1 | c.363T= c.345T= c.11953T= (p.Trp3985=) c.11938T= (p.Trp3980=) c.11935T= (p.Trp3979=) c.562T= c.5322T= c.11920T= (p.Trp3974=) c.11950T= (p.Trp3984=) | dbSNP |