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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
TTC5 ENSG00000136319 ENST00000258821 p.V161V c.483C>T Silent -
MIOS ENSG00000164654 ENST00000340080 p.T378T c.1134G>A Silent -
NELFA ENSG00000185049 ENST00000411638 p.G10D c.29G>A Missense_Mutation -
DDX51 ENSG00000185163 ENST00000397333 Splice_Site -
WDR97 ENSG00000179698 ENST00000323662 p.V777V c.2331G>C Silent -
GRIK4 ENSG00000149403 ENST00000527524 p.E364V c.1091A>T Missense_Mutation -
CHRNA9 ENSG00000174343 ENST00000310169 p.T371T c.1113G>C Silent -
GPHN ENSG00000171723 ENST00000478722 p.V478M c.1432G>A Missense_Mutation -
FAS ENSG00000026103 ENST00000355740 p.Q273R c.818A>G Missense_Mutation -
MPDZ ENSG00000107186 ENST00000319217 p.E1941G c.5822A>G Missense_Mutation -