| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38440830G>C | CA405671989 | RYR1 | c.131G>C (p.Arg44Pro) n.214G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38440830G>A | CA024037 | RYR1 | c.131G>A (p.Arg44His) n.214G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38440830G= | CA2335024373 | RYR1 | c.131G= (p.Arg44=) n.214G= | dbSNP |