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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PCSK7 ENSG00000160613 ENST00000320934 p.V247L c.739G>T Missense_Mutation -
SLC22A8 ENSG00000149452 ENST00000306494 p.G187D c.560G>A Missense_Mutation -
GPR20 ENSG00000204882 ENST00000377741 p.VTGSRP188fs c.562_578delGTGACAGGCAGCCGGCC Frame_Shift_Del -
-- ENSG00000182500 ENST00000330079 p.S34R c.100A>C Missense_Mutation -
NKPD1 ENSG00000179846 ENST00000438936 p.T77A c.229A>G Missense_Mutation -
ATP1A4 ENSG00000132681 ENST00000368081 p.V190L c.568G>C Missense_Mutation -
TTC14 ENSG00000163728 ENST00000296015 p.S480N c.1439G>A Missense_Mutation -
-- ENSG00000198518 ENST00000360441 p.V66V c.198G>C Silent -
FBN1 ENSG00000166147 ENST00000316623 p.G1316fs c.3945_3946insA Frame_Shift_Ins -
TBC1D9 ENSG00000109436 ENST00000442267 p.192_193insI c.578_579insTAT In_Frame_Ins -