Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.N767K | c.2301C>A | Missense_Mutation | - |
| FNDC7 | ENSG00000143107 | ENST00000370017 | p.P300L | c.899C>T | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.K1467I | c.4400A>T | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.N1590del | c.4768_4770delAAC | In_Frame_Del | - |
| AMOTL2 | ENSG00000114019 | ENST00000514516 | p.K437E | c.1309A>G | Missense_Mutation | - |
| CHD1L | ENSG00000131778 | ENST00000369258 | p.H571Y | c.1711C>T | Missense_Mutation | - |
| -- | ENST00000447511 | p.C500C | c.1500C>T | Silent | - | |
| SBSPON | ENSG00000164764 | ENST00000297354 | p.F76F | c.228C>T | Silent | - |
| BTN2A1 | ENSG00000112763 | ENST00000312541 | p.E91D | c.273G>C | Missense_Mutation | - |
| SLC22A3 | ENSG00000146477 | ENST00000275300 | p.T251A | c.751A>G | Missense_Mutation | - |