Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
RTP1 ENSG00000175077 ENST00000312295 p.W80* c.240G>A Nonsense_Mutation -
SMC3 ENSG00000108055 ENST00000361804 p.A504V c.1511C>T Splice_Site -
ZNF768 ENSG00000169957 ENST00000380412 p.R281H c.842G>A Missense_Mutation -
PDILT ENSG00000169340 ENST00000302451 p.V18I c.52G>A Missense_Mutation -
-- ENSG00000181039 ENST00000323397 p.R314L c.941G>T Missense_Mutation -
UBOX5 ENSG00000185019 ENST00000380266 p.R731H c.2192G>A Missense_Mutation -
ADAMTS4 ENSG00000158859 ENST00000367996 p.H179Y c.535C>T Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.Q3185Q c.9555G>A Silent -
NEIL2 ENSG00000154328 ENST00000284503 p.P92S c.274C>T Missense_Mutation -
F11 ENSG00000088926 ENST00000403665 p.A199T c.595G>A Splice_Site -