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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SLC6A15 ENSG00000072041 ENST00000266682 p.L350V c.1048T>G Missense_Mutation -
OR5B21 ENSG00000198283 ENST00000360374 p.R224G c.670A>G Missense_Mutation -
EVC2 ENSG00000173040 ENST00000344408 p.I549V c.1645A>G Missense_Mutation -
DLC1 ENSG00000164741 ENST00000276297 p.Q303R c.908A>G Missense_Mutation -
PKHD1L1 ENSG00000205038 ENST00000378402 p.T866N c.2597C>A Missense_Mutation -
CIT ENSG00000122966 ENST00000261833 p.K1149R c.3446A>G Missense_Mutation -
NPIPB3 ENSG00000169246 ENST00000448012 p.K183E c.547A>G Splice_Site -
SLC16A8 ENSG00000100156 ENST00000320521 p.P234L c.701C>T Missense_Mutation -
KIAA0513 ENSG00000135709 ENST00000566428 p.L93L c.277C>T Silent -
CPLANE1 ENSG00000197603 ENST00000508244 p.T175T c.525C>T Silent -