Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.L482P | c.1445T>C | Missense_Mutation | - |
| GAK | ENSG00000178950 | ENST00000314167 | p.P480P | c.1440A>C | Silent | - |
| SNX11 | ENSG00000002919 | ENST00000393405 | p.P185L | c.554C>T | Missense_Mutation | - |
| EXOC3L1 | ENSG00000179044 | ENST00000314586 | p.Q561L | c.1682A>T | Missense_Mutation | - |
| BEND7 | ENSG00000165626 | ENST00000341083 | p.V314V | c.942G>A | Silent | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.H816Q | c.2448T>A | Missense_Mutation | - |
| ACBD3 | ENSG00000182827 | ENST00000366812 | p.L120F | c.358C>T | Missense_Mutation | - |
| IQCH | ENSG00000103599 | ENST00000335894 | p.S866T | c.2597G>C | Missense_Mutation | - |
| YY1AP1 | ENSG00000163374 | ENST00000359205 | p.R517Q | c.1550G>A | Missense_Mutation | - |
| NFIL3 | ENSG00000165030 | ENST00000297689 | p.H166H | c.498C>T | Silent | - |