Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| RTP1 | ENSG00000175077 | ENST00000312295 | p.W80* | c.240G>A | Nonsense_Mutation | - |
| SMC3 | ENSG00000108055 | ENST00000361804 | p.A504V | c.1511C>T | Splice_Site | - |
| ZNF768 | ENSG00000169957 | ENST00000380412 | p.R281H | c.842G>A | Missense_Mutation | - |
| PDILT | ENSG00000169340 | ENST00000302451 | p.V18I | c.52G>A | Missense_Mutation | - |
| -- | ENSG00000181039 | ENST00000323397 | p.R314L | c.941G>T | Missense_Mutation | - |
| UBOX5 | ENSG00000185019 | ENST00000380266 | p.R731H | c.2192G>A | Missense_Mutation | - |
| ADAMTS4 | ENSG00000158859 | ENST00000367996 | p.H179Y | c.535C>T | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.Q3185Q | c.9555G>A | Silent | - |
| NEIL2 | ENSG00000154328 | ENST00000284503 | p.P92S | c.274C>T | Missense_Mutation | - |
| F11 | ENSG00000088926 | ENST00000403665 | p.A199T | c.595G>A | Splice_Site | - |