Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| ZNF33B | ENSG00000196693 | ENST00000359467 | p.L314L | c.942G>A | Silent | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.L766M | c.2296C>A | Missense_Mutation | - |
| RARB | ENSG00000077092 | ENST00000404969 | p.V135V | c.405C>T | Silent | - |
| ST6GALNAC6 | ENSG00000160408 | ENST00000373146 | p.D290D | c.870C>T | Silent | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.R1707T | c.5120G>C | Missense_Mutation | - |
| GRIK4 | ENSG00000149403 | ENST00000527524 | p.F821F | c.2463T>C | Silent | - |
| TM9SF3 | ENSG00000077147 | ENST00000371142 | p.A303A | c.909T>C | Silent | - |
| FANCI | ENSG00000140525 | ENST00000310775 | p.Q1317* | c.3949C>T | Nonsense_Mutation | - |
| TKTL1 | ENSG00000007350 | ENST00000369915 | p.L297V | c.889C>G | Missense_Mutation | - |
| WDR87 | ENSG00000171804 | ENST00000303868 | p.K1296R | c.3887A>G | Missense_Mutation | - |