Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ZNF33B ENSG00000196693 ENST00000359467 p.L314L c.942G>A Silent -
PCDHB4 ENSG00000081818 ENST00000194152 p.L766M c.2296C>A Missense_Mutation -
RARB ENSG00000077092 ENST00000404969 p.V135V c.405C>T Silent -
ST6GALNAC6 ENSG00000160408 ENST00000373146 p.D290D c.870C>T Silent -
LRRK2 ENSG00000188906 ENST00000298910 p.R1707T c.5120G>C Missense_Mutation -
GRIK4 ENSG00000149403 ENST00000527524 p.F821F c.2463T>C Silent -
TM9SF3 ENSG00000077147 ENST00000371142 p.A303A c.909T>C Silent -
FANCI ENSG00000140525 ENST00000310775 p.Q1317* c.3949C>T Nonsense_Mutation -
TKTL1 ENSG00000007350 ENST00000369915 p.L297V c.889C>G Missense_Mutation -
WDR87 ENSG00000171804 ENST00000303868 p.K1296R c.3887A>G Missense_Mutation -