Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FBXO48 ENSG00000204923 ENST00000377957 p.F44fs c.131_132delTT Frame_Shift_Del -
RINT1 ENSG00000135249 ENST00000257700 p.K62N c.186G>T Missense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.I49I c.147C>T Silent -
NDE1 ENSG00000072864 ENST00000396353 p.R72C c.214C>T Missense_Mutation -
MYO1H ENSG00000174527 ENST00000431443 p.R594H c.1781G>A Missense_Mutation -
WDR97 ENSG00000179698 ENST00000323662 NA NA Splice_Site -
PTPRB ENSG00000127329 ENST00000261266 p.A1583D c.4748C>A Missense_Mutation -
PTPRB ENSG00000127329 ENST00000261266 p.D1286Y c.3856G>T Missense_Mutation -
SMO ENSG00000128602 ENST00000249373 p.I496I c.1488C>A Silent -
TSGA10 ENSG00000135951 ENST00000393483 NA NA Intron -