| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237566603G>A | CA009157 | RYR2 | c.3251G>A (p.Arg1084Lys) c.3203G>A (p.Arg1068Lys) c.3248G>A (p.Arg1083Lys) n.3532G>A c.3230G>A (p.Arg1077Lys) n.3565G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237566603G>C | CA345397953 | RYR2 | c.3251G>C (p.Arg1084Thr) c.3203G>C (p.Arg1068Thr) c.3248G>C (p.Arg1083Thr) n.3532G>C c.3230G>C (p.Arg1077Thr) n.3565G>C | dbSNP |
| 1 | g.237566603G>T | CA345397957 | RYR2 | c.3251G>T (p.Arg1084Met) c.3203G>T (p.Arg1068Met) c.3248G>T (p.Arg1083Met) n.3532G>T c.3230G>T (p.Arg1077Met) n.3565G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237566603G= | CA1143355772 | RYR2 | c.3251G= (p.Arg1084=) c.3203G= (p.Arg1068=) c.3248G= (p.Arg1083=) n.3532G= c.3230G= (p.Arg1077=) n.3565G= | dbSNP |