Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SCFD1 ENSG00000092108 ENST00000458591 p.D609Y c.1825G>T Missense_Mutation -
MUC12 ENSG00000205277 ENST00000379442 p.G3378fs c.10132delG Frame_Shift_Del -
ENSG00000116386 ENST00000331565 p.S249L c.746C>T Missense_Mutation -
false Missense_Mutation -
RBM25 ENSG00000119707 ENST00000261973 p.K429fs c.1284_1285insA Frame_Shift_Ins -
PRKAR1A ENSG00000108946 ENST00000588188 p.G298G c.894G>C Silent -
ATP11A ENSG00000068650 ENST00000487903 p.D1090N c.3268G>A Missense_Mutation -
ORM2 ENSG00000228278 ENST00000431067 Splice_Site -
PXDNL ENSG00000147485 ENST00000356297 p.E211K c.631G>A Missense_Mutation -
INPP4A ENSG00000040933 ENST00000409016 p.R754* c.2260C>T Nonsense_Mutation -