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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPP2R1A ENSG00000105568 ENST00000322088 p.H304Q c.912C>G Missense_Mutation -
SETBP1 ENSG00000152217 ENST00000282030 p.P1198P c.3594G>A Silent -
BTN2A2 ENSG00000124508 ENST00000356709 p.R347R c.1041A>G Silent -
SP140 ENSG00000079263 ENST00000343805 p.E101* c.301G>T Nonsense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.I39I c.117C>A Silent -
MTNR1B ENSG00000134640 ENST00000257068 p.W224R c.670T>C Missense_Mutation -
KCNA4 ENSG00000182255 ENST00000328224 p.M1I c.3G>A Start_Codon_SNP -
TG ENSG00000042832 ENST00000220616 p.I821T c.2462T>C Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.N2037S c.6110A>G Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.E343A c.1028A>C Missense_Mutation -