Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.L211L | c.633C>G | Silent | - |
| TBC1D22A | ENSG00000054611 | ENST00000337137 | p.L185L | c.555C>G | Silent | - |
| -- | ENSG00000167957 | ENST00000447419 | p.G398E | c.1193G>A | Missense_Mutation | - |
| VWF | ENSG00000110799 | ENST00000261405 | p.G408G | c.1224G>T | Silent | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.E2156K | c.6466G>A | Missense_Mutation | - |
| NEB | ENSG00000183091 | ENST00000604864 | p.A1823S | c.5467G>T | Missense_Mutation | - |
| -- | ENSG00000080297 | ENST00000172853 | p.K1269N | c.3807A>C | Missense_Mutation | - |
| -- | ENSG00000080297 | ENST00000172853 | p.K1262N | c.3786G>T | Missense_Mutation | - |
| BUB3 | ENSG00000154473 | ENST00000368865 | p.Q215Q | c.645G>A | Silent | - |
| TBC1D9 | ENSG00000109436 | ENST00000442267 | p.P318L | c.953C>T | Missense_Mutation | - |