| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38455472G>A | CA024295 | RYR1 | c.1598G>A (p.Arg533His) c.1595G>A (p.Arg532His) n.1681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38455472G= | CA2335031305 | RYR1 | c.1598G= (p.Arg533=) c.1595G= (p.Arg532=) n.1681G= | dbSNP |
| 19 | g.38455472G>T | CA405689745 | RYR1 | c.1598G>T (p.Arg533Leu) c.1595G>T (p.Arg532Leu) n.1681G>T | ClinVar dbSNP gnomAD v4 |