| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237640938A>T | CA010563 | RYR2 | c.7157A>T (p.Asn2386Ile) c.7109A>T (p.Asn2370Ile) c.7187A>T (p.Asn2396Ile) c.7184A>T (p.Asn2395Ile) c.7154A>T (p.Asn2385Ile) n.7468A>T c.7166A>T (p.Asn2389Ile) n.7501A>T | ClinVar dbSNP |
| 1 | g.237640938A= | CA1141581463 | RYR2 | c.7157A= (p.Asn2386=) c.7109A= (p.Asn2370=) c.7187A= (p.Asn2396=) c.7184A= (p.Asn2395=) c.7154A= (p.Asn2385=) n.7468A= c.7166A= (p.Asn2389=) n.7501A= | dbSNP |