Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPARGC1A ENSG00000109819 ENST00000264867 p.L710L c.2130G>A Silent -
COL8A1 ENSG00000144810 ENST00000261037 p.G191W c.571G>T Missense_Mutation -
COL8A1 ENSG00000144810 ENST00000261037 p.P598fs c.1789delC Frame_Shift_Del -
MMP2 ENSG00000087245 ENST00000570308 p.G549G c.1647C>T Silent -
CYLC2 ENSG00000155833 ENST00000374798 p.D342N c.1024G>A Missense_Mutation -
WDR97 ENSG00000179698 ENST00000323662 p.A438A c.1314G>A Silent -
C5orf34 ENSG00000172244 ENST00000306862 p.Y235Y c.705C>T Silent -
C5orf34 ENSG00000172244 ENST00000306862 p.P137P c.411C>T Silent -
PHETA2 ENSG00000177096 ENST00000321753 p.A79A c.237T>C Silent -
SORBS1 ENSG00000095637 ENST00000607232 p.R782C c.2344C>T Missense_Mutation -