| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585952G>A | CA024266 | RYR1 | c.1754G>A c.3151G>A c.3123G>A n.211G>A c.14818G>A (p.Ala4940Thr) c.14803G>A (p.Ala4935Thr) c.14800G>A (p.Ala4934Thr) c.14785G>A (p.Ala4929Thr) c.14815G>A (p.Ala4939Thr) c.14731G>A (p.Ala4911Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585952G= | CA2335095495 | RYR1 | c.1754G= c.3151G= c.3123G= n.211G= c.14818G= (p.Ala4940=) c.14803G= (p.Ala4935=) c.14800G= (p.Ala4934=) c.14785G= (p.Ala4929=) c.14815G= (p.Ala4939=) c.14731G= (p.Ala4911=) | dbSNP |
| 19 | g.38585952G>T | CA405692210 | RYR1 | c.1754G>T c.3151G>T c.3123G>T n.211G>T c.14818G>T (p.Ala4940Ser) c.14803G>T (p.Ala4935Ser) c.14800G>T (p.Ala4934Ser) c.14785G>T (p.Ala4929Ser) c.14815G>T (p.Ala4939Ser) c.14731G>T (p.Ala4911Ser) | dbSNP gnomAD v4 |