| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237627977G>A | CA010110 | RYR2 | c.6337G>A (p.Val2113Met) c.6289G>A (p.Val2097Met) c.6367G>A (p.Val2123Met) c.6364G>A (p.Val2122Met) c.6334G>A (p.Val2112Met) n.6648G>A c.6346G>A (p.Val2116Met) n.6681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627977G= | CA1142882953 | RYR2 | c.6337G= (p.Val2113=) c.6289G= (p.Val2097=) c.6367G= (p.Val2123=) c.6364G= (p.Val2122=) c.6334G= (p.Val2112=) n.6648G= c.6346G= (p.Val2116=) n.6681G= | dbSNP |
| 1 | g.237627977G>T | CA345411335 | RYR2 | c.6337G>T (p.Val2113Leu) c.6289G>T (p.Val2097Leu) c.6367G>T (p.Val2123Leu) c.6364G>T (p.Val2122Leu) c.6334G>T (p.Val2112Leu) n.6648G>T c.6346G>T (p.Val2116Leu) n.6681G>T | dbSNP gnomAD v4 |