| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25354402del | CA333349 | SNHG14,UBE3A | c.2245del (p.Glu749LysfsTer15) c.2305del (p.Glu769LysfsTer15) c.2314del (p.Glu772LysfsTer15) c.2128del (p.Glu710LysfsTer15) n.5001del c.256del (p.Glu86LysfsTer15) c.116del c.2149del (p.Glu717LysfsTer15) c.2089del (p.Glu697LysfsTer15) c.2080del (p.Glu694LysfsTer15) c.1054del (p.Glu352LysfsTer15) c.994del (p.Glu332LysfsTer15) n.18393-37194del n.2849del c.2158del (p.Glu720LysfsTer15) n.2817del | 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 |