| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25339138T>A | CA333478 | SNHG14,UBE3A | c.2558A>T (p.Ter853Leu) c.*943A>T (n.*943A>T) c.155A>T (p.Ter52Leu) c.2618A>T (p.Ter873Leu) c.2627A>T (p.Ter876Leu) c.2441A>T (p.Ter814Leu) c.569A>T (p.Ter190Leu) c.429A>T c.2462A>T (p.Ter821Leu) c.2402A>T (p.Ter801Leu) c.2393A>T (p.Ter798Leu) c.1367A>T (p.Ter456Leu) c.1307A>T (p.Ter436Leu) n.18393-52458T>A n.3162A>T c.2471A>T (p.Ter824Leu) n.3130A>T | ClinVar dbSNP |
| 15 | g.25339138T>C | CA149406 | SNHG14,UBE3A | c.2558A>G (p.Ter853=) c.*943A>G (n.*943A>G) c.155A>G (p.Ter52=) c.2618A>G (p.Ter873=) c.2627A>G (p.Ter876=) c.2441A>G (p.Ter814=) c.569A>G (p.Ter190=) c.429A>G c.2462A>G (p.Ter821=) c.2402A>G (p.Ter801=) c.2393A>G (p.Ter798=) c.1367A>G (p.Ter456=) c.1307A>G (p.Ter436=) n.18393-52458T>C n.3162A>G c.2471A>G (p.Ter824=) n.3130A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |