| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38573304C>T | CA024104 | RYR1 | c.1062C>T c.2459C>T c.2431C>T c.14126C>T (p.Thr4709Met) c.14111C>T (p.Thr4704Met) c.14108C>T (p.Thr4703Met) c.14093C>T (p.Thr4698Met) c.14123C>T (p.Thr4708Met) c.14039C>T (p.Thr4680Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38573304C>G | CA405682643 | RYR1 | c.1062C>G c.2459C>G c.2431C>G c.14126C>G (p.Thr4709Arg) c.14111C>G (p.Thr4704Arg) c.14108C>G (p.Thr4703Arg) c.14093C>G (p.Thr4698Arg) c.14123C>G (p.Thr4708Arg) c.14039C>G (p.Thr4680Arg) | ClinVar dbSNP |
| 19 | g.38573304C= | CA2335089020 | RYR1 | c.1062C= c.2459C= c.2431C= c.14126C= (p.Thr4709=) c.14111C= (p.Thr4704=) c.14108C= (p.Thr4703=) c.14093C= (p.Thr4698=) c.14123C= (p.Thr4708=) c.14039C= (p.Thr4680=) | dbSNP |