Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
VPS13A ENSG00000197969 ENST00000360280 p.K1481fs c.4440_4441insA Frame_Shift_Ins -
VWF ENSG00000110799 ENST00000261405 p.S1486S c.4458G>A Silent -
PHC2 ENSG00000134686 ENST00000257118 p.S135S c.405A>G Silent -
C1QBP ENSG00000108561 ENST00000225698 p.C69C c.207T>C Silent -
CFAP126 ENSG00000188931 ENST00000367974 p.W95C c.285G>T Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.R1159S c.3477G>C Missense_Mutation -
ENSG00000080297 ENST00000172853 p.D2879Y c.8635G>T Missense_Mutation -
KCNK1 ENSG00000135750 ENST00000366621 p.I181I c.543C>T Silent -
C8orf31 ENSG00000177335 ENST00000395172 NA NA Splice_Site -
STK11IP ENSG00000144589 ENST00000456909 p.V641V c.1923C>G Silent -