| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580410T>C | CA405687678 | RYR1 | c.1488T>C c.2885T>C c.2857T>C c.14552T>C (p.Leu4851Pro) c.14537T>C (p.Leu4846Pro) c.14534T>C (p.Leu4845Pro) c.14519T>C (p.Leu4840Pro) c.14549T>C (p.Leu4850Pro) c.14465T>C (p.Leu4822Pro) | ClinVar dbSNP |
| 19 | g.38580410T>G | CA405687676 | RYR1 | c.1488T>G c.2885T>G c.2857T>G c.14552T>G (p.Leu4851Arg) c.14537T>G (p.Leu4846Arg) c.14534T>G (p.Leu4845Arg) c.14519T>G (p.Leu4840Arg) c.14549T>G (p.Leu4850Arg) c.14465T>G (p.Leu4822Arg) | dbSNP |
| 19 | g.38580410T= | CA2335092462 | RYR1 | c.1488T= c.2885T= c.2857T= c.14552T= (p.Leu4851=) c.14537T= (p.Leu4846=) c.14534T= (p.Leu4845=) c.14519T= (p.Leu4840=) c.14549T= (p.Leu4850=) c.14465T= (p.Leu4822=) | dbSNP |