Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| BSN | ENSG00000164061 | ENST00000296452 | p.G2304V | c.6911G>T | Missense_Mutation | - |
| SEMA4F | ENSG00000135622 | ENST00000357877 | p.T658A | c.1972A>G | Missense_Mutation | - |
| INHBA | ENSG00000122641 | ENST00000242208 | p.A111T | c.331G>A | Missense_Mutation | - |
| CDK8 | ENSG00000132964 | ENST00000381527 | p.E203G | c.608A>G | Missense_Mutation | - |
| GPR180 | ENSG00000152749 | ENST00000376958 | p.L408fs | c.1222_1223delCT | Frame_Shift_Del | - |
| HSF5 | ENSG00000176160 | ENST00000323777 | p.P508L | c.1523C>T | Missense_Mutation | - |
| PLAAT5 | ENSG00000168004 | ENST00000301790 | p.I229T | c.686T>C | Missense_Mutation | - |
| MAP3K11 | ENSG00000173327 | ENST00000530153 | p.S347F | c.1040C>T | Missense_Mutation | - |
| NLRP4 | ENSG00000160505 | ENST00000301295 | p.D878D | c.2634T>C | Silent | - |
| NOTUM | ENSG00000185269 | ENST00000409678 | p.P326P | c.978G>A | Silent | - |