Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CRABP2 ENSG00000143320 ENST00000368222 p.Y135Y c.405C>T Silent -
ARL16 ENSG00000214087 ENST00000397498 p.V118M c.352G>A Missense_Mutation -
IL1RAPL1 ENSG00000169306 ENST00000378993 p.F85V c.253T>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.M1319R c.3956T>G Missense_Mutation -
PIKFYVE ENSG00000115020 ENST00000264380 p.S274G c.820A>G Splice_Site -
TERB1 ENSG00000249961 ENST00000558713 p.D278G c.833A>G Missense_Mutation -
CFAP126 ENSG00000188931 ENST00000367974 p.V135V c.405A>T Silent -
DKKL1 ENSG00000104901 ENST00000221498 p.R194* c.580C>T Nonsense_Mutation -
BFAR ENSG00000103429 ENST00000261658 p.E346A c.1037A>C Missense_Mutation -
RB1 ENSG00000139687 ENST00000267163 p.K652fs c.1953_1954insA Frame_Shift_Ins -