Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
TIAM1 ENSG00000156299 ENST00000286827 p.Y135C c.404A>G Missense_Mutation -
PSD ENSG00000059915 ENST00000020673 p.H342Y c.1024C>T Missense_Mutation -
HCN1 ENSG00000164588 ENST00000303230 p.R195S c.585G>T Missense_Mutation -
FBXL19 ENSG00000099364 ENST00000380310 p.T622M c.1865C>T Missense_Mutation -
FAM186A ENSG00000185958 ENST00000327337 p.P2324S c.6970C>T Missense_Mutation -
MED12L ENSG00000144893 ENST00000474524 p.Q2069* c.6205C>T Nonsense_Mutation -
LIMD1 ENSG00000144791 ENST00000273317 p.G559R c.1675G>C Missense_Mutation -
PPP2R5A ENSG00000066027 ENST00000261461 p.R133H c.398G>A Missense_Mutation -
ENSG00000196494 ENST00000356026 p.H355Y c.1063C>T Missense_Mutation -
PIKFYVE ENSG00000115020 ENST00000264380 p.R1546L c.4637G>T Missense_Mutation -