| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499731G>C | CA024718 | RYR1 | c.7124G>C (p.Gly2375Ala) c.7121G>C (p.Gly2374Ala) c.576G>C n.7207G>C | ClinVar dbSNP |
| 19 | g.38499731G>A | CA405668249 | RYR1 | c.7124G>A (p.Gly2375Glu) c.7121G>A (p.Gly2374Glu) c.576G>A n.7207G>A | ClinVar dbSNP |
| 19 | g.38499731G= | CA2335052907 | RYR1 | c.7124G= (p.Gly2375=) c.7121G= (p.Gly2374=) c.576G= n.7207G= | dbSNP |