Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KCTD18 | ENSG00000155729 | ENST00000359878 | p.L107F | c.321G>T | Missense_Mutation | - |
| ALX4 | ENSG00000052850 | ENST00000329255 | p.P199S | c.595C>T | Missense_Mutation | - |
| ADGRG6 | ENSG00000112414 | ENST00000367609 | p.N143S | c.428A>G | Missense_Mutation | - |
| FBXL18 | ENSG00000155034 | ENST00000382368 | p.G626S | c.1876G>A | Missense_Mutation | - |
| SDK1 | ENSG00000146555 | ENST00000389531 | p.V608I | c.1822G>A | Missense_Mutation | - |
| PPAN | ENSG00000130810 | ENST00000428358 | p.R223H | c.668G>A | Missense_Mutation | - |
| LRRC18 | ENSG00000165383 | ENST00000374160 | p.N177N | c.531C>T | Silent | - |
| XRN1 | ENSG00000114127 | ENST00000392981 | p.I317V | c.949A>G | Missense_Mutation | - |
| NPIPB3 | ENSG00000169246 | ENST00000448012 | p.R216R | c.646A>C | Silent | - |
| BDP1 | ENSG00000145734 | ENST00000358731 | p.K1003N | c.3009G>T | Missense_Mutation | - |