Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PGAM4 ENSG00000226784 ENST00000458128 p.A252V c.755C>T Missense_Mutation -
SP140 ENSG00000079263 ENST00000392045 p.H421R c.1262A>G Missense_Mutation -
SCFD1 ENSG00000092108 ENST00000458591 p.S387R c.1159A>C Splice_Site -
PKHD1L1 ENSG00000205038 ENST00000378402 p.L2803P c.8408T>C Missense_Mutation -
OR10G4 ENSG00000254737 ENST00000320891 p.V255V c.765T>G Silent -
ANAPC1 ENSG00000153107 ENST00000341068 p.E72* c.214G>T Splice_Site -
RB1 ENSG00000139687 ENST00000267163 NA NA Splice_Site -
ZFHX4 ENSG00000091656 ENST00000521891 p.G1772G c.5316C>A Silent -
LRRK2 ENSG00000188906 ENST00000298910 p.R1558I c.4673G>T Missense_Mutation -
C8orf31 ENSG00000177335 ENST00000395172 p.L81P c.242T>C Missense_Mutation -