Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| HINT2 | ENSG00000137133 | ENST00000259667 | p.V91V | c.273C>T | Silent | - |
| ANAPC4 | ENSG00000053900 | ENST00000315368 | p.L347F | c.1041G>T | Missense_Mutation | - |
| OXNAD1 | ENSG00000154814 | ENST00000285083 | p.73_74SE>R* | c.219_220TG>GT | Nonsense_Mutation | - |
| FNDC7 | ENSG00000143107 | ENST00000370017 | p.A98T | c.292G>A | Missense_Mutation | - |
| RB1 | ENSG00000139687 | ENST00000267163 | p.PPAPP20fs | c.59_72delCCCCGGCACCGCCG | Frame_Shift_Del | - |
| -- | ENSG00000080297 | ENST00000172853 | p.R2812S | c.8434C>A | Missense_Mutation | - |
| PDP2 | ENSG00000172840 | ENST00000311765 | p.A494A | c.1482G>A | Silent | - |
| EXOC8 | ENSG00000116903 | ENST00000360394 | p.A295T | c.883G>A | Missense_Mutation | - |
| ZNF750 | ENSG00000141579 | ENST00000269394 | NA | NA | De_novo_Start_OutOfFrame | - |
| PPM1E | ENSG00000175175 | ENST00000308249 | p.E100E | c.300G>A | Silent | - |