Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
DMC1 ENSG00000100206 ENST00000216024 p.Y194C c.581A>G Missense_Mutation -
COQ2 ENSG00000173085 ENST00000311469 p.N180S c.539A>G Missense_Mutation -
CPNE9 ENSG00000144550 ENST00000383832 p.G104R c.310G>C Missense_Mutation -
COL17A1 ENSG00000065618 ENST00000353479 Splice_Site -
SLC1A5 ENSG00000105281 ENST00000542575 p.G478G c.1434G>A Silent -
MMP2 ENSG00000087245 ENST00000570308 p.G266R c.796G>A Missense_Mutation -
MMP2 ENSG00000087245 ENST00000570308 p.G266E c.797G>A Missense_Mutation -
SEMA4F ENSG00000135622 ENST00000357877 p.A26P c.76G>C Missense_Mutation -
RIMS1 ENSG00000079841 ENST00000521978 p.R887Q c.2660G>A Missense_Mutation -
CLEC4A ENSG00000111729 ENST00000229332 p.H140H c.420C>T Silent -