| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580430A>G | CA024174 | RYR1 | c.1508A>G c.2905A>G c.2877A>G c.14572A>G (p.Asn4858Asp) c.14557A>G (p.Asn4853Asp) c.14554A>G (p.Asn4852Asp) c.14539A>G (p.Asn4847Asp) c.14569A>G (p.Asn4857Asp) c.14485A>G (p.Asn4829Asp) | ClinVar dbSNP |
| 19 | g.38580430A= | CA2335092472 | RYR1 | c.1508A= c.2905A= c.2877A= c.14572A= (p.Asn4858=) c.14557A= (p.Asn4853=) c.14554A= (p.Asn4852=) c.14539A= (p.Asn4847=) c.14569A= (p.Asn4857=) c.14485A= (p.Asn4829=) | dbSNP |