| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.33613209A>G | CA7458354 | RYR3 | c.2191A>G (p.Ile731Val) c.2188A>G (p.Ile730Val) c.2170A>G (p.Ile724Val) c.2083A>G (p.Ile695Val) n.2463A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.33613209A= | CA2168947748 | RYR3 | c.2191A= (p.Ile731=) c.2188A= (p.Ile730=) c.2170A= (p.Ile724=) c.2083A= (p.Ile695=) n.2463A= | dbSNP |