| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237550628C>T | CA009097 | RYR2 | c.3151C>T (p.Arg1051Cys) c.3103C>T (p.Arg1035Cys) n.3432C>T c.3130C>T (p.Arg1044Cys) n.3465C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237550628C= | CA1144697234 | RYR2 | c.3151C= (p.Arg1051=) c.3103C= (p.Arg1035=) n.3432C= c.3130C= (p.Arg1044=) n.3465C= | dbSNP |
| 1 | g.237550628C>G | CA071155 | RYR2 | c.3151C>G (p.Arg1051Gly) c.3103C>G (p.Arg1035Gly) n.3432C>G c.3130C>G (p.Arg1044Gly) n.3465C>G | ClinVar dbSNP |