| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38483311G>A | CA024459 | RYR1 | c.4729G>A (p.Ala1577Thr) c.4726G>A (p.Ala1576Thr) n.4812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38483311G= | CA2335045050 | RYR1 | c.4729G= (p.Ala1577=) c.4726G= (p.Ala1576=) n.4812G= | dbSNP |
| 19 | g.38483311G>T | CA405650149 | RYR1 | c.4729G>T (p.Ala1577Ser) c.4726G>T (p.Ala1576Ser) n.4812G>T | dbSNP gnomAD v4 |