Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed 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 -