A3-KAW

Other names: A3KAW

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
OR6B1 ENSG00000221813 ENST00000408922 p.T280I c.839C>T Missense_Mutation -
IFIT5 ENSG00000152778 ENST00000371795 p.E368G c.1103A>G Missense_Mutation -
RINT1 ENSG00000135249 ENST00000257700 p.L562fs c.1685delT Frame_Shift_Del -
C11orf24 ENSG00000171067 ENST00000304271 p.S131T c.392G>C Missense_Mutation -
MUC12 ENSG00000205277 ENST00000379442 p.T5335M c.16004C>T Missense_Mutation -
VWA7 ENSG00000204396 ENST00000375688 p.I609S c.1826T>G Missense_Mutation -
ZXDB ENSG00000198455 ENST00000374888 p.A194D c.581C>A Missense_Mutation -
ZXDB ENSG00000198455 ENST00000374888 p.G198R c.592G>A Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.T218K c.653C>A Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.G1271G c.3813T>G Splice_Site -