Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CXXC1 ENSG00000154832 ENST00000285106 p.LA304fs c.909_913delCCTGG Splice_Site -
-- ENSG00000184582 ENST00000072869 p.S83R c.249C>G Missense_Mutation -
PKHD1L1 ENSG00000205038 ENST00000378402 p.S2867F c.8600C>T Missense_Mutation -
MYO1C ENSG00000197879 ENST00000575158 p.I914I c.2742C>T Silent -
IQCH ENSG00000103599 ENST00000335894 p.P192P c.576C>A Silent -
MYH1 ENSG00000109061 ENST00000226207 p.F739Y c.2216T>A Missense_Mutation -
RB1 ENSG00000139687 ENST00000267163 p.A106E c.317C>A Missense_Mutation -
HRNR ENSG00000197915 ENST00000368801 p.R1056P c.3167G>C Missense_Mutation -
FBXO9 ENSG00000112146 ENST00000244426 p.R261R c.783G>T Silent -
SPDL1 ENSG00000040275 ENST00000265295 p.Q193* c.577C>T Nonsense_Mutation -