| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25354402C>A | CA333346 | SNHG14,UBE3A | c.2245G>T (p.Glu749Ter) c.2305G>T (p.Glu769Ter) c.2314G>T (p.Glu772Ter) c.2128G>T (p.Glu710Ter) n.5001G>T c.256G>T (p.Glu86Ter) c.116G>T c.2149G>T (p.Glu717Ter) c.2089G>T (p.Glu697Ter) c.2080G>T (p.Glu694Ter) c.1054G>T (p.Glu352Ter) c.994G>T (p.Glu332Ter) n.18393-37194C>A n.2849G>T c.2158G>T (p.Glu720Ter) n.2817G>T | ClinVar dbSNP |
| 15 | g.25354402C= | CA2165201218 | SNHG14,UBE3A | c.2245G= (p.Glu749=) c.2305G= (p.Glu769=) c.2314G= (p.Glu772=) c.2128G= (p.Glu710=) n.5001G= c.256G= (p.Glu86=) c.116G= c.2149G= (p.Glu717=) c.2089G= (p.Glu697=) c.2080G= (p.Glu694=) c.1054G= (p.Glu352=) c.994G= (p.Glu332=) n.18393-37194C= n.2849G= c.2158G= (p.Glu720=) n.2817G= | dbSNP dbSNP |