Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CXXC1 | ENSG00000154832 | ENST00000285106 | p.LA304fs | c.909_913delCCTGG | Splice_Site | - |
| -- | ENSG00000184582 | ENST00000072869 | p.S83R | c.249C>G | Missense_Mutation | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.S2867F | c.8600C>T | Missense_Mutation | - |
| MYO1C | ENSG00000197879 | ENST00000575158 | p.I914I | c.2742C>T | Silent | - |
| IQCH | ENSG00000103599 | ENST00000335894 | p.P192P | c.576C>A | Silent | - |
| MYH1 | ENSG00000109061 | ENST00000226207 | p.F739Y | c.2216T>A | Missense_Mutation | - |
| RB1 | ENSG00000139687 | ENST00000267163 | p.A106E | c.317C>A | Missense_Mutation | - |
| HRNR | ENSG00000197915 | ENST00000368801 | p.R1056P | c.3167G>C | Missense_Mutation | - |
| FBXO9 | ENSG00000112146 | ENST00000244426 | p.R261R | c.783G>T | Silent | - |
| SPDL1 | ENSG00000040275 | ENST00000265295 | p.Q193* | c.577C>T | Nonsense_Mutation | - |