| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129839298T>C | CA4481484 | UBE2H | c.336A>G (p.Leu112=) c.126A>G (p.Leu42=) c.299-23A>G (n.299-23A>G) c.243A>G (p.Leu81=) c.363A>G (n.363A>G) n.444A>G c.237A>G (p.Leu79=) c.525A>G (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839298T= | CA1743017384 | UBE2H | c.336A= (p.Leu112=) c.126A= (p.Leu42=) c.299-23A= (n.299-23A=) c.243A= (p.Leu81=) c.363A= (n.363A=) n.444A= c.237A= (p.Leu79=) c.525A= (p.Leu175=) | dbSNP |
| 7 | g.129839298T>A | CA369449247 | UBE2H | c.336A>T (p.Leu112Phe) c.126A>T (p.Leu42Phe) c.299-23A>T (n.299-23A>T) c.243A>T (p.Leu81Phe) c.363A>T (n.363A>T) n.444A>T c.237A>T (p.Leu79Phe) c.525A>T (p.Leu175Phe) | dbSNP gnomAD v4 |