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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OR6B1 ENSG00000221813 ENST00000408922 p.L96P c.287T>C Missense_Mutation -
PSMC2 ENSG00000161057 ENST00000435765 NA NA Splice_Site -
PSMC2 ENSG00000161057 ENST00000435765 p.S106S c.318G>A Silent -
CYLC2 ENSG00000155833 ENST00000374798 p.A313V c.938C>T Missense_Mutation -
FAM170B ENSG00000172538 ENST00000311787 p.P47S c.139C>T Missense_Mutation -
NR1H4 ENSG00000012504 ENST00000551379 p.G210G c.630C>T Splice_Site -
ZNF668 ENSG00000167394 ENST00000538906 p.Q487Q c.1461A>G Silent -
SORBS1 ENSG00000095637 ENST00000607232 p.A502V c.1505C>T Missense_Mutation -
SMO ENSG00000128602 ENST00000249373 p.H692fs c.2076delC Frame_Shift_Del -
ATG5 ENSG00000057663 ENST00000369076 p.R204H c.611G>A Missense_Mutation -