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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SVEP1 ENSG00000165124 ENST00000374469 p.N978Y c.2932A>T Missense_Mutation -
FAM189B ENSG00000160767 ENST00000368368 p.T438P c.1312A>C Missense_Mutation -
OLIG1 ENSG00000184221 ENST00000382348 p.48_49insS c.124_125insCCT In_Frame_Ins -
-- ENSG00000187919 ENST00000334575 p.D101E c.303T>A Missense_Mutation -
VWF ENSG00000110799 ENST00000261405 p.R324G c.970C>G Missense_Mutation -
COG2 ENSG00000135775 ENST00000366669 p.L397S c.1190T>C Missense_Mutation -
COL22A1 ENSG00000169436 ENST00000303045 p.455_455P>PPP c.1364_1365insTCCACC In_Frame_Ins -
REV3L ENSG00000009413 ENST00000358835 p.Q2529Q c.7587A>G Silent -
WRNIP1 ENSG00000124535 ENST00000380773 p.G206G c.618C>G Silent -
CXCR2 ENSG00000180871 ENST00000318507 p.R153C c.457C>T Missense_Mutation -