| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38505358C>T | CA405677595 | RYR1 | c.8360C>T (p.Thr2787Ile) c.8357C>T (p.Thr2786Ile) c.1812C>T n.8443C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38505358C>G | CA024914 | RYR1 | c.8360C>G (p.Thr2787Ser) c.8357C>G (p.Thr2786Ser) c.1812C>G n.8443C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |