| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237548497A>G | CA008996 | RYR2 | c.2973A>G (p.Ser991=) c.2925A>G (p.Ser975=) n.3254A>G c.2952A>G (p.Ser984=) n.3287A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237548497A>T | CA086258 | RYR2 | c.2973A>T (p.Ser991=) c.2925A>T (p.Ser975=) n.3254A>T c.2952A>T (p.Ser984=) n.3287A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237548497A>C | CA086257 | RYR2 | c.2973A>C (p.Ser991=) c.2925A>C (p.Ser975=) n.3254A>C c.2952A>C (p.Ser984=) n.3287A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |