Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
METTL25 ENSG00000127720 ENST00000248306 p.E527fs c.1579_1580insA Frame_Shift_Ins -
IFIT5 ENSG00000152778 ENST00000371795 p.A52V c.155C>T Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K1481fs c.4440_4441insA Frame_Shift_Ins -
VPS13A ENSG00000197969 ENST00000360280 NA NA Splice_Site -
VPS13A ENSG00000197969 ENST00000360280 p.V2880V c.8640A>G Silent -
ABI2 ENSG00000138443 ENST00000422511 p.P182H c.545C>A Missense_Mutation -
FAM170B ENSG00000172538 ENST00000311787 p.R211G c.631A>G Missense_Mutation -
TOPAZ1 ENSG00000173769 ENST00000309765 p.D949G c.2846A>G Missense_Mutation -
THOC3 ENSG00000051596 ENST00000265097 NA NA Splice_Site -
NCOA3 ENSG00000124151 ENST00000371998 p.A70T c.208G>A Missense_Mutation -