Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FAM71F1 ENSG00000135248 ENST00000315184 p.R303K c.908G>A Missense_Mutation -
COL8A1 ENSG00000144810 ENST00000261037 p.Q555L c.1664A>T Missense_Mutation -
SETBP1 ENSG00000152217 ENST00000282030 p.V1450L c.4348G>T Missense_Mutation -
SETBP1 ENSG00000152217 ENST00000282030 p.D1480V c.4439A>T Missense_Mutation -
DLC1 ENSG00000164741 ENST00000276297 p.S1116* c.3347C>A Nonsense_Mutation -
PDILT ENSG00000169340 ENST00000302451 p.L268M c.802C>A Missense_Mutation -
PDILT ENSG00000169340 ENST00000302451 p.E120V c.359A>T Missense_Mutation -
NRG1 ENSG00000157168 ENST00000405005 p.A163A c.489A>G Silent -
RIMS4 ENSG00000101098 ENST00000372851 p.F14L c.40T>C Missense_Mutation -
SELENOS ENSG00000131871 ENST00000398226 p.G172R c.514G>A Missense_Mutation -