Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.I64V | c.190A>G | Missense_Mutation | - |
| SMC3 | ENSG00000108055 | ENST00000361804 | p.Y668D | c.2002T>G | Missense_Mutation | - |
| C4B | ENSG00000224389 | ENST00000428956 | p.E959D | c.2877A>C | Missense_Mutation | - |
| OXNAD1 | ENSG00000154814 | ENST00000285083 | p.A191T | c.571G>A | Missense_Mutation | - |
| EPAS1 | ENSG00000116016 | ENST00000263734 | p.P666P | c.1998G>A | Silent | - |
| OR5A1 | ENSG00000172320 | ENST00000302030 | p.R146H | c.437G>A | Missense_Mutation | - |
| NAP1L6 | ENSG00000204118 | ENST00000373518 | p.A23G | c.68C>G | Missense_Mutation | - |
| ACBD3 | ENSG00000182827 | ENST00000366812 | p.AGGAA65del | c.194_208delCTGGGGGCGCGGCGG | In_Frame_Del | - |
| UBR2 | ENSG00000024048 | ENST00000372899 | p.Q1096Q | c.3288A>G | Silent | - |
| CAPN15 | ENSG00000103326 | ENST00000219611 | p.A504T | c.1510G>A | Missense_Mutation | - |