| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38504319C>G | CA405676023 | RYR1 | c.8026C>G (p.Arg2676Gly) c.8023C>G (p.Arg2675Gly) c.1478C>G n.8109C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38504319C>T | CA024883 | RYR1 | c.8026C>T (p.Arg2676Trp) c.8023C>T (p.Arg2675Trp) c.1478C>T n.8109C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |