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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
NRG1 ENSG00000157168 ENST00000520407 p.P56S c.166C>T Missense_Mutation -
-- ENST00000525859 p.E723K c.2167G>A Missense_Mutation -
CDH16 ENSG00000166589 ENST00000394055 p.L645I c.1933C>A Missense_Mutation -
WDR97 ENSG00000179698 ENST00000323662 p.Y11Y c.33C>T Silent -
ATP2C2 ENSG00000064270 ENST00000416219 p.E636K c.1906G>A Missense_Mutation -
ROBO2 ENSG00000185008 ENST00000332191 p.K1351E c.4051A>G Missense_Mutation -
CHGB ENSG00000089199 ENST00000378961 p.E184E c.552A>G Silent -
DYSF ENSG00000135636 ENST00000410020 p.Y666C c.1997A>G Missense_Mutation -
TBC1D9 ENSG00000109436 ENST00000442267 p.K128N c.384A>T Missense_Mutation -
NHLRC2 ENSG00000196865 ENST00000369301 p.L14L c.42G>C Silent -