| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237590901G>A | CA086527 | RYR2 | c.4069G>A (p.Asp1357Asn) c.4021G>A (p.Asp1341Asn) c.4066G>A (p.Asp1356Asn) n.4350G>A c.4048G>A (p.Asp1350Asn) n.4383G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237590901G>C | CA009446 | RYR2 | c.4069G>C (p.Asp1357His) c.4021G>C (p.Asp1341His) c.4066G>C (p.Asp1356His) n.4350G>C c.4048G>C (p.Asp1350His) n.4383G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |