Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OR13A1 ENSG00000256574 ENST00000553795 p.R183C c.547C>T Missense_Mutation -
PPARGC1A ENSG00000109819 ENST00000264867 p.Y523Y c.1569C>T Silent -
PPARGC1A ENSG00000109819 ENST00000264867 p.C387* c.1161C>A Nonsense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.T167T c.501A>G Silent -
VPS13A ENSG00000197969 ENST00000360280 p.D234D c.702C>T Silent -
VPS13A ENSG00000197969 ENST00000360280 p.T963T c.2889G>A Silent -
VPS13A ENSG00000197969 ENST00000360280 p.Q1222* c.3664C>T Nonsense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.L1453fs c.4359delA Frame_Shift_Del -
VPS13A ENSG00000197969 ENST00000360280 p.E2875* c.8623G>T Nonsense_Mutation -
PSMC2 ENSG00000161057 ENST00000435765 p.V177V c.531T>C Silent -