Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
METTL25 ENSG00000127720 ENST00000248306 p.P266H c.797C>A Missense_Mutation -
PPARGC1A ENSG00000109819 ENST00000264867 p.Y722Y c.2166C>T Silent -
PPARGC1A ENSG00000109819 ENST00000264867 p.S490R c.1470T>A Missense_Mutation -
PPARGC1A ENSG00000109819 ENST00000264867 p.P309P c.927T>C Silent -
PPARGC1A ENSG00000109819 ENST00000264867 p.I196V c.586A>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 NA NA Splice_Site -
VPS13A ENSG00000197969 ENST00000360280 p.TK1570fs c.4709_4710insA Frame_Shift_Ins -
VPS13A ENSG00000197969 ENST00000360280 p.Y3051Y c.9153C>T Silent -
PSMC2 ENSG00000161057 ENST00000435765 p.D133D c.399C>T Silent -
PSMC2 ENSG00000161057 ENST00000435765 p.G242* c.724G>T Nonsense_Mutation -