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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SNAI3 ENSG00000185669 ENST00000332281 p.K186K c.558G>A Silent -
CAMSAP3 ENSG00000076826 ENST00000160298 p.P1141L c.3422C>T Missense_Mutation -
-- ENSG00000142287 ENST00000270301 p.L328L c.984C>T Silent -
MYLIP ENSG00000007944 ENST00000356840 p.L12L c.34C>T Silent -
STX16 ENSG00000124222 ENST00000356091 p.R223G c.667A>G Missense_Mutation -
YY1AP1 ENSG00000163374 ENST00000295566 NA NA Splice_Site -
MMP7 ENSG00000137673 ENST00000260227 p.L120S c.359T>C Missense_Mutation -
VWA7 ENSG00000204396 ENST00000375688 p.G565A c.1694G>C Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.L54L c.162G>A Silent -
RSL1D1 ENSG00000171490 ENST00000571133 p.K426Q c.1276A>C Missense_Mutation -