| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237785999G>A | CA007871 | RYR2 | c.*4383G>A (n.*4383G>A) c.13273G>A (p.Glu4425Lys) c.13312G>A (p.Glu4438Lys) c.5462G>A c.13291G>A (p.Glu4431Lys) c.3344G>A c.13243+993G>A (n.13243+993G>A) n.4486G>A c.13345G>A (p.Glu4449Lys) c.13342G>A (p.Glu4448Lys) c.13321G>A (p.Glu4441Lys) c.13315G>A (p.Glu4439Lys) c.13309G>A (p.Glu4437Lys) c.13285G>A (p.Glu4429Lys) c.13108G>A (p.Glu4370Lys) c.13252G>A (p.Glu4418Lys) c.13324G>A (p.Glu4442Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237785999G= | CA1147643616 | RYR2 | c.*4383G= (n.*4383G=) c.13273G= (p.Glu4425=) c.13312G= (p.Glu4438=) c.5462G= c.13291G= (p.Glu4431=) c.3344G= c.13243+993G= (n.13243+993G=) n.4486G= c.13345G= (p.Glu4449=) c.13342G= (p.Glu4448=) c.13321G= (p.Glu4441=) c.13315G= (p.Glu4439=) c.13309G= (p.Glu4437=) c.13285G= (p.Glu4429=) c.13108G= (p.Glu4370=) c.13252G= (p.Glu4418=) c.13324G= (p.Glu4442=) | dbSNP |