Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.L710L | c.2130G>A | Silent | - |
| COL8A1 | ENSG00000144810 | ENST00000261037 | p.G191W | c.571G>T | Missense_Mutation | - |
| COL8A1 | ENSG00000144810 | ENST00000261037 | p.P598fs | c.1789delC | Frame_Shift_Del | - |
| MMP2 | ENSG00000087245 | ENST00000570308 | p.G549G | c.1647C>T | Silent | - |
| CYLC2 | ENSG00000155833 | ENST00000374798 | p.D342N | c.1024G>A | Missense_Mutation | - |
| WDR97 | ENSG00000179698 | ENST00000323662 | p.A438A | c.1314G>A | Silent | - |
| C5orf34 | ENSG00000172244 | ENST00000306862 | p.Y235Y | c.705C>T | Silent | - |
| C5orf34 | ENSG00000172244 | ENST00000306862 | p.P137P | c.411C>T | Silent | - |
| PHETA2 | ENSG00000177096 | ENST00000321753 | p.A79A | c.237T>C | Silent | - |
| SORBS1 | ENSG00000095637 | ENST00000607232 | p.R782C | c.2344C>T | Missense_Mutation | - |