Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
BSN ENSG00000164061 ENST00000296452 p.G2304V c.6911G>T Missense_Mutation -
SEMA4F ENSG00000135622 ENST00000357877 p.T658A c.1972A>G Missense_Mutation -
INHBA ENSG00000122641 ENST00000242208 p.A111T c.331G>A Missense_Mutation -
CDK8 ENSG00000132964 ENST00000381527 p.E203G c.608A>G Missense_Mutation -
GPR180 ENSG00000152749 ENST00000376958 p.L408fs c.1222_1223delCT Frame_Shift_Del -
HSF5 ENSG00000176160 ENST00000323777 p.P508L c.1523C>T Missense_Mutation -
PLAAT5 ENSG00000168004 ENST00000301790 p.I229T c.686T>C Missense_Mutation -
MAP3K11 ENSG00000173327 ENST00000530153 p.S347F c.1040C>T Missense_Mutation -
NLRP4 ENSG00000160505 ENST00000301295 p.D878D c.2634T>C Silent -
NOTUM ENSG00000185269 ENST00000409678 p.P326P c.978G>A Silent -