| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38496283C>G | CA024620 | RYR1 | c.6617C>G (p.Thr2206Arg) c.6614C>G (p.Thr2205Arg) c.69C>G n.6700C>G | ClinVar dbSNP |
| 19 | g.38496283C>T | CA024622 | RYR1 | c.6617C>T (p.Thr2206Met) c.6614C>T (p.Thr2205Met) c.69C>T n.6700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38496283C= | CA2335051165 | RYR1 | c.6617C= (p.Thr2206=) c.6614C= (p.Thr2205=) c.69C= n.6700C= | dbSNP |