Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
METTL25 ENSG00000127720 ENST00000248306 p.S311S c.933C>A Silent -
OR13A1 ENSG00000256574 ENST00000553795 p.K156R c.467A>G Missense_Mutation -
OR6B1 ENSG00000221813 ENST00000408922 p.K80fs c.237_238insA Frame_Shift_Ins -
OR6B1 ENSG00000221813 ENST00000408922 p.T238T c.714T>C Silent -
PPARGC1A ENSG00000109819 ENST00000264867 p.Q155* c.463C>T Nonsense_Mutation -
COL8A1 ENSG00000144810 ENST00000261037 p.G591G c.1773A>G Silent -
IFIT5 ENSG00000152778 ENST00000371795 p.T414A c.1240A>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.S1891P c.5671T>C Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K1910R c.5729A>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.T2264T c.6792T>C Silent -