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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
COL8A1 ENSG00000144810 ENST00000261037 p.P598fs c.1789delC Frame_Shift_Del -
COL8A1 ENSG00000144810 ENST00000261037 p.K670fs c.2010delG Frame_Shift_Del -
IFIT5 ENSG00000152778 ENST00000371795 p.F176L c.526T>C Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K372fs c.1108delA Frame_Shift_Del -
PCDHA3 ENSG00000255408 ENST00000522353 p.S417S c.1251C>T Silent -
PCDHA3 ENSG00000255408 ENST00000522353 p.A682V c.2045C>T Missense_Mutation -
-- ENSG00000167411 ENST00000300870 p.P603T c.1807C>A Missense_Mutation -
RINT1 ENSG00000135249 ENST00000257700 p.L228L c.684T>A Silent -
SLC25A29 ENSG00000197119 ENST00000359232 p.Y39H c.115T>C Missense_Mutation -
ZNF668 ENSG00000167394 ENST00000538906 p.Q515fs c.1543delC Frame_Shift_Del -