| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585058T>C | CA024251 | RYR1 | c.1698T>C c.3095T>C c.3067T>C n.155T>C c.14762T>C (p.Phe4921Ser) c.14747T>C (p.Phe4916Ser) c.14744T>C (p.Phe4915Ser) c.14729T>C (p.Phe4910Ser) c.14759T>C (p.Phe4920Ser) c.14675T>C (p.Phe4892Ser) | ClinVar dbSNP |
| 19 | g.38585058T= | CA2335094989 | RYR1 | c.1698T= c.3095T= c.3067T= n.155T= c.14762T= (p.Phe4921=) c.14747T= (p.Phe4916=) c.14744T= (p.Phe4915=) c.14729T= (p.Phe4910=) c.14759T= (p.Phe4920=) c.14675T= (p.Phe4892=) | dbSNP |