Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
TBC1D10C ENSG00000175463 ENST00000542590 p.A321V c.962C>T Missense_Mutation -
OXNAD1 ENSG00000154814 ENST00000285083 p.AK216fs c.647_648insA Frame_Shift_Ins -
PDILT ENSG00000169340 ENST00000302451 p.K494E c.1480A>G Missense_Mutation -
ENSG00000181039 ENST00000323397 p.S376L c.1127C>T Missense_Mutation -
PKHD1L1 ENSG00000205038 ENST00000378402 p.V3241fs c.9723delC Frame_Shift_Del -
ENST00000404233 p.V432M c.1294G>A Missense_Mutation -
ZNF385B ENSG00000144331 ENST00000410066 p.I459I c.1377C>A Silent -
CIT ENSG00000122966 ENST00000261833 p.E591E c.1773G>A Silent -
C11orf24 ENSG00000171067 ENST00000304271 p.A116A c.348G>A Silent -
MUC12 ENSG00000205277 ENST00000379442 p.S4424Y c.13271C>A Missense_Mutation -