| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38494579G>A | CA024603 | RYR1 | c.6502G>A (p.Val2168Met) c.6499G>A (p.Val2167Met) n.6585G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38494579G>C | CA405664337 | RYR1 | c.6502G>C (p.Val2168Leu) c.6499G>C (p.Val2167Leu) n.6585G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38494579G= | CA2335050297 | RYR1 | c.6502G= (p.Val2168=) c.6499G= (p.Val2167=) n.6585G= | dbSNP |
| 19 | g.38494579G>T | CA405664338 | RYR1 | c.6502G>T (p.Val2168Leu) c.6499G>T (p.Val2167Leu) n.6585G>T | dbSNP gnomAD v4 |