| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38575959A>C | CA024108 | RYR1 | c.1106A>C c.2503A>C c.2475A>C c.14170A>C (p.Lys4724Gln) c.14155A>C (p.Lys4719Gln) c.14152A>C (p.Lys4718Gln) c.14137A>C (p.Lys4713Gln) c.14167A>C (p.Lys4723Gln) c.14083A>C (p.Lys4695Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38575959A= | CA2335090364 | RYR1 | c.1106A= c.2503A= c.2475A= c.14170A= (p.Lys4724=) c.14155A= (p.Lys4719=) c.14152A= (p.Lys4718=) c.14137A= (p.Lys4713=) c.14167A= (p.Lys4723=) c.14083A= (p.Lys4695=) | dbSNP |