| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.131941405G>T | CA115607 | PUS1 | c.658G>T (p.Glu220Ter) c.574G>T (p.Glu192Ter) c.358-2134G>T (n.358-2134G>T) c.583G>T (p.Glu195Ter) c.499G>T (p.Glu167Ter) n.479G>T c.259G>T (p.Glu87Ter) n.1113G>T | ClinVar dbSNP |
| 12 | g.131941405G>A | CA387298905 | PUS1 | c.658G>A (p.Glu220Lys) c.574G>A (p.Glu192Lys) c.358-2134G>A (n.358-2134G>A) c.583G>A (p.Glu195Lys) c.499G>A (p.Glu167Lys) n.479G>A c.259G>A (p.Glu87Lys) n.1113G>A | dbSNP gnomAD v4 |
| 12 | g.131941405G= | CA2072621030 | PUS1 | c.658G= (p.Glu220=) c.574G= (p.Glu192=) c.358-2134G= (n.358-2134G=) c.583G= (p.Glu195=) c.499G= (p.Glu167=) n.479G= c.259G= (p.Glu87=) n.1113G= | dbSNP |