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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OR10G4 ENSG00000254737 ENST00000320891 p.L212L c.636G>C Silent -
TOPAZ1 ENSG00000173769 ENST00000309765 p.N896S c.2687A>G Missense_Mutation -
NR1H4 ENSG00000012504 ENST00000392986 p.S346S c.1038T>A Silent -
EML3 ENSG00000149499 ENST00000394773 p.V274V c.822C>T Silent -
TM9SF3 ENSG00000077147 ENST00000371142 p.K114Q c.340A>C Missense_Mutation -
ZNF131 ENSG00000172262 ENST00000399534 p.Q195H c.585G>T Missense_Mutation -
ROBO2 ENSG00000185008 ENST00000332191 p.G68A c.203G>C Missense_Mutation -
SCAF4 ENSG00000156304 ENST00000286835 p.A1142V c.3425C>T Missense_Mutation -
FBXO41 ENSG00000163013 ENST00000521871 p.V226G c.677T>G Missense_Mutation -
-- ENSG00000116386 ENST00000331565 p.T348T c.1044C>G Silent -