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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OR1L1 ENSG00000173679 ENST00000373686 p.V297M c.889G>A Missense_Mutation -
ADGRG6 ENSG00000112414 ENST00000230173 p.F135V c.403T>G Missense_Mutation -
FOCAD ENSG00000188352 ENST00000380249 p.G835C c.2503G>T Splice_Site -
MUC12 ENSG00000205277 ENST00000379442 p.T1581I c.4742C>T Missense_Mutation -
MUC12 ENSG00000205277 ENST00000379442 p.T3138I c.9413C>T Missense_Mutation -
GUCY1A1 ENSG00000164116 ENST00000296518 p.P644P c.1932A>G Silent -
SIKE1 ENSG00000052723 ENST00000060969 p.T4N c.11C>A Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.L824V c.2470C>G Missense_Mutation -
-- ENSG00000080297 ENST00000172853 p.Q5636Q c.16908G>A Silent -
-- ENSG00000080297 ENST00000172853 p.T1889T c.5667C>A Silent -