Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CHP2 | ENSG00000166869 | ENST00000300113 | p.A56V | c.167C>T | Missense_Mutation | - |
| PSMC2 | ENSG00000161057 | ENST00000435765 | p.L56F | c.166C>T | Missense_Mutation | - |
| LRRC37A2 | ENSG00000238083 | ENST00000576629 | p.N1229S | c.3686A>G | Missense_Mutation | - |
| UBR2 | ENSG00000024048 | ENST00000372899 | p.V1384V | c.4152G>A | Silent | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.S524S | c.1572C>T | Silent | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.R2971H | c.8912G>A | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.L3548F | c.10642C>T | Missense_Mutation | - |
| ZNF208 | ENSG00000160321 | ENST00000397126 | p.F13F | c.39C>T | Silent | - |
| SCAF4 | ENSG00000156304 | ENST00000286835 | p.T815T | c.2445G>A | Silent | - |
| FANCI | ENSG00000140525 | ENST00000310775 | p.L1141L | c.3423G>A | Silent | - |