Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.P480P | c.1440A>C | Silent | - |
| ELMSAN1 | ENSG00000156030 | ENST00000286523 | p.A615V | c.1844C>T | Missense_Mutation | - |
| COL8A1 | ENSG00000144810 | ENST00000261037 | p.G314R | c.940G>A | Missense_Mutation | - |
| TMEM183A | ENSG00000163444 | ENST00000367242 | p.L141V | c.421C>G | Missense_Mutation | - |
| EPAS1 | ENSG00000116016 | ENST00000263734 | p.S355C | c.1064C>G | Missense_Mutation | - |
| CADM1 | ENSG00000182985 | ENST00000452722 | p.E193D | c.579A>C | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.K3221N | c.9663A>C | Missense_Mutation | - |
| BDP1 | ENSG00000145734 | ENST00000358731 | p.P1894P | c.5682C>T | Silent | - |
| SCAF4 | ENSG00000156304 | ENST00000286835 | p.N120fs | c.359_360insA | Frame_Shift_Ins | - |
| C5orf34 | ENSG00000172244 | ENST00000306862 | p.T605T | c.1815C>T | Silent | - |