Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ABCG8 ENSG00000143921 ENST00000272286 p.Y613H c.1837T>C Missense_Mutation -
WRNIP1 ENSG00000124535 ENST00000380773 p.R211P c.632G>C Missense_Mutation -
SLC25A29 ENSG00000197119 ENST00000359232 p.A174fs c.521_522insGC Frame_Shift_Ins -
PTGIR ENSG00000160013 ENST00000291294 p.A152T c.454G>A Missense_Mutation -
MYH1 ENSG00000109061 ENST00000226207 p.M7L c.19A>C Missense_Mutation -
NR1H4 ENSG00000012504 ENST00000392986 p.P92S c.274C>T Missense_Mutation -
SCRIB ENSG00000180900 ENST00000356994 p.E818K c.2452G>A Missense_Mutation -
AMOTL2 ENSG00000114019 ENST00000514516 p.S607S c.1821A>G Silent -
IL5RA ENSG00000091181 ENST00000438560 p.G282R c.844G>A Missense_Mutation -
PRRX1 ENSG00000116132 ENST00000239461 p.R129C c.385C>T Missense_Mutation -