| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237566672C>T | CA009188 | RYR2 | c.3320C>T (p.Thr1107Met) c.3272C>T (p.Thr1091Met) c.3317C>T (p.Thr1106Met) n.3601C>T c.3299C>T (p.Thr1100Met) n.3634C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237566672C= | CA1143404103 | RYR2 | c.3320C= (p.Thr1107=) c.3272C= (p.Thr1091=) c.3317C= (p.Thr1106=) n.3601C= c.3299C= (p.Thr1100=) n.3634C= | dbSNP |