| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38512321G>A | CA024976 | RYR1 | c.9249G>A (n.9249G>A) c.9310G>A (p.Glu3104Lys) c.9307G>A (p.Glu3103Lys) c.2712G>A c.117G>A n.9343G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38512321G>C | CA405686720 | RYR1 | c.9249G>C (n.9249G>C) c.9310G>C (p.Glu3104Gln) c.9307G>C (p.Glu3103Gln) c.2712G>C c.117G>C n.9343G>C | dbSNP gnomAD v4 |
| 19 | g.38512321G= | CA2335059634 | RYR1 | c.9249G= (n.9249G=) c.9310G= (p.Glu3104=) c.9307G= (p.Glu3103=) c.2712G= c.117G= n.9343G= | dbSNP |