Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
APLF ENSG00000169621 ENST00000303795 p.K494N c.1482G>T Missense_Mutation -
ANKUB1 ENSG00000206199 ENST00000446160 p.Q512H c.1536G>C Missense_Mutation -
TMEM183A ENSG00000163444 ENST00000367242 p.S192S c.576A>C Silent -
NHLRC1 ENSG00000187566 ENST00000340650 p.A133A c.399G>A Silent -
OR5A1 ENSG00000172320 ENST00000302030 p.V209I c.625G>A Missense_Mutation -
CST4 ENSG00000101441 ENST00000217423 p.E54K c.160G>A Missense_Mutation -
ZNF330 ENSG00000109445 ENST00000262990 p.Q46H c.138G>C Missense_Mutation -
CFAP126 ENSG00000188931 ENST00000367974 p.S63S c.189C>T Silent -
HRNR ENSG00000197915 ENST00000368801 p.G855S c.2563G>A Missense_Mutation -
UBAP2 ENSG00000137073 ENST00000379238 p.A520S c.1558G>T Missense_Mutation -