Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
COG2 ENSG00000135775 ENST00000366669 p.R116L c.347G>T Missense_Mutation -
MAMDC4 ENSG00000177943 ENST00000317446 p.G913R c.2737G>A Missense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.H38H c.114C>T Silent -
CAPN15 ENSG00000103326 ENST00000219611 p.G208D c.623G>A Missense_Mutation -
HRNR ENSG00000197915 ENST00000368801 p.L1934S c.5801T>C Missense_Mutation -
-- ENSG00000080297 ENST00000172853 p.H5961H c.17883T>C Silent -
ZNF208 ENSG00000160321 ENST00000397126 p.E669* c.2005G>T Nonsense_Mutation -
IDO2 ENSG00000188676 ENST00000389060 p.L329L c.987G>A Silent -
FAM8A1 ENSG00000137414 ENST00000259963 p.G327A c.980G>C Missense_Mutation -
TAF4 ENSG00000130699 ENST00000252996 p.A478A c.1434G>T Silent -