| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38567912T>A | CA405678249 | RYR1 | c.590T>A c.1987T>A c.2046T>A c.13654T>A (p.Phe4552Ile) c.13639T>A (p.Phe4547Ile) c.13636T>A (p.Phe4546Ile) c.201T>A c.13621T>A (p.Phe4541Ile) c.13651T>A (p.Phe4551Ile) | ClinVar dbSNP |
| 19 | g.38567912T= | CA2335086272 | RYR1 | c.590T= c.1987T= c.2046T= c.13654T= (p.Phe4552=) c.13639T= (p.Phe4547=) c.13636T= (p.Phe4546=) c.201T= c.13621T= (p.Phe4541=) c.13651T= (p.Phe4551=) | dbSNP |