Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OTX2 ENSG00000165588 ENST00000555006 p.Q187P c.560A>C Missense_Mutation -
DLC1 ENSG00000164741 ENST00000276297 p.R349S c.1047G>T Missense_Mutation -
DCDC1 ENSG00000170959 ENST00000597505 p.Q1745K c.5233C>A Missense_Mutation -
APOL3 ENSG00000128284 ENST00000349314 p.E179E c.537G>A Silent -
MYH1 ENSG00000109061 ENST00000226207 p.R1526R c.4578C>T Silent -
PPFIBP2 ENSG00000166387 ENST00000530181 p.A326S c.976G>T Missense_Mutation -
NCOA3 ENSG00000124151 ENST00000371998 p.S901R c.2701A>C Missense_Mutation -
SNAPC1 ENSG00000023608 ENST00000216294 p.D197H c.589G>C Missense_Mutation -
CFAP77 ENSG00000188523 ENST00000393215 p.T111S c.331A>T Missense_Mutation -
ADGRL1 ENSG00000072071 ENST00000340736 p.G563D c.1688G>A Missense_Mutation -