| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580440G>C | CA405687804 | RYR1 | c.1518G>C c.2915G>C c.2887G>C c.14582G>C (p.Arg4861Pro) c.14567G>C (p.Arg4856Pro) c.14564G>C (p.Arg4855Pro) c.14549G>C (p.Arg4850Pro) c.14579G>C (p.Arg4860Pro) c.14495G>C (p.Arg4832Pro) | ClinVar dbSNP |
| 19 | g.38580440G>A | CA024187 | RYR1 | c.1518G>A c.2915G>A c.2887G>A c.14582G>A (p.Arg4861His) c.14567G>A (p.Arg4856His) c.14564G>A (p.Arg4855His) c.14549G>A (p.Arg4850His) c.14579G>A (p.Arg4860His) c.14495G>A (p.Arg4832His) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580440G= | CA2335092481 | RYR1 | c.1518G= c.2915G= c.2887G= c.14582G= (p.Arg4861=) c.14567G= (p.Arg4856=) c.14564G= (p.Arg4855=) c.14549G= (p.Arg4850=) c.14579G= (p.Arg4860=) c.14495G= (p.Arg4832=) | dbSNP |