| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572172G>T | CA405680931 | RYR1 | c.836G>T c.2233G>T c.2205G>T c.13900G>T (p.Glu4634Ter) c.13885G>T (p.Glu4629Ter) c.13882G>T (p.Glu4628Ter) c.360G>T c.13867G>T (p.Glu4623Ter) c.13897G>T (p.Glu4633Ter) c.13813G>T (p.Glu4605Ter) | ClinVar dbSNP |
| 19 | g.38572172G>A | CA024076 | RYR1 | c.836G>A c.2233G>A c.2205G>A c.13900G>A (p.Glu4634Lys) c.13885G>A (p.Glu4629Lys) c.13882G>A (p.Glu4628Lys) c.360G>A c.13867G>A (p.Glu4623Lys) c.13897G>A (p.Glu4633Lys) c.13813G>A (p.Glu4605Lys) | ClinVar dbSNP |
| 19 | g.38572172G= | CA2335088425 | RYR1 | c.836G= c.2233G= c.2205G= c.13900G= (p.Glu4634=) c.13885G= (p.Glu4629=) c.13882G= (p.Glu4628=) c.360G= c.13867G= (p.Glu4623=) c.13897G= (p.Glu4633=) c.13813G= (p.Glu4605=) | dbSNP |