| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38561329G>A | CA080694 | RYR1 | c.909G>A c.891G>A c.12499G>A (p.Glu4167Lys) c.12484G>A (p.Glu4162Lys) c.12481G>A (p.Glu4161Lys) c.5868G>A c.12466G>A (p.Glu4156Lys) c.12496G>A (p.Glu4166Lys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561329G>T | CA023986 | RYR1 | c.909G>T c.891G>T c.12499G>T (p.Glu4167Ter) c.12484G>T (p.Glu4162Ter) c.12481G>T (p.Glu4161Ter) c.5868G>T c.12466G>T (p.Glu4156Ter) c.12496G>T (p.Glu4166Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561329G>C | CA405669323 | RYR1 | c.909G>C c.891G>C c.12499G>C (p.Glu4167Gln) c.12484G>C (p.Glu4162Gln) c.12481G>C (p.Glu4161Gln) c.5868G>C c.12466G>C (p.Glu4156Gln) c.12496G>C (p.Glu4166Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561329G= | CA2335082617 | RYR1 | c.909G= c.891G= c.12499G= (p.Glu4167=) c.12484G= (p.Glu4162=) c.12481G= (p.Glu4161=) c.5868G= c.12466G= (p.Glu4156=) c.12496G= (p.Glu4166=) | dbSNP |