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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
POMT2 ENSG00000009830 ENST00000261534 p.G241G c.723G>T Silent -
OLIG1 ENSG00000184221 ENST00000382348 p.48_49insS c.124_125insCCT In_Frame_Ins -
ACTR6 ENSG00000075089 ENST00000188312 p.N283I c.848A>T Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.N1094N c.3282C>T Silent -
LRRC18 ENSG00000165383 ENST00000374160 p.Q94H c.282G>T Missense_Mutation -
MYO18B ENSG00000133454 ENST00000407587 p.S2297R c.6891T>G Missense_Mutation -
CORO2A ENSG00000106789 ENST00000343933 p.R224Q c.671G>A Missense_Mutation -
C2CD2 ENSG00000157617 ENST00000380486 p.S377L c.1130C>T Missense_Mutation -
ZIK1 ENSG00000171649 ENST00000597850 p.274_275ins* c.820_821insAAT In_Frame_Ins -
ASB6 ENSG00000148331 ENST00000277458 p.V394V c.1182G>A Silent -