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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PDCD6IP ENSG00000170248 ENST00000307296 p.T741S c.2222C>G Missense_Mutation -
OR8A1 ENSG00000196119 ENST00000284287 p.Y166Y c.498C>T Silent -
UBOX5 ENSG00000185019 ENST00000380266 p.Y13* c.39C>A Nonsense_Mutation -
COL22A1 ENSG00000169436 ENST00000303045 p.R227C c.679C>T Missense_Mutation -
IL27 ENSG00000197272 ENST00000356897 p.L92L c.276G>T Silent -
WRNIP1 ENSG00000124535 ENST00000380773 p.L255L c.765C>T Silent -
NBEAL2 ENSG00000160796 ENST00000450053 p.Y1073D c.3217T>G Missense_Mutation -
CCDC112 ENSG00000164221 ENST00000506442 p.Q323L c.968A>T Missense_Mutation -
DIPK1B ENSG00000165716 ENST00000371692 p.D141G c.422A>G Missense_Mutation -
KCNK1 ENSG00000135750 ENST00000366621 p.V11V c.33G>A Silent -