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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.P480P c.1440A>C Silent -
POMT2 ENSG00000009830 ENST00000261534 p.V484V c.1452C>T Silent -
MMP2 ENSG00000087245 ENST00000219070 p.S152S c.456C>T Silent -
WNT2 ENSG00000105989 ENST00000265441 p.A354T c.1060G>A Missense_Mutation -
RINT1 ENSG00000135249 ENST00000257700 p.R616T c.1847G>C Missense_Mutation -
FAM170B ENSG00000172538 ENST00000311787 p.P131L c.392C>T Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.V1600M c.4798G>A Missense_Mutation -
-- ENSG00000080297 ENST00000172853 p.V5222M c.15664G>A Missense_Mutation -
HIST1H3D ENSG00000197409 ENST00000356476 p.R54H c.161G>A Missense_Mutation -
SSH3 ENSG00000172830 ENST00000308127 p.G465S c.1393G>A Missense_Mutation -