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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PSMC2 ENSG00000161057 ENST00000435765 p.G291G c.873T>G Silent -
FAM83B ENSG00000168143 ENST00000306858 p.D471G c.1412A>G Missense_Mutation -
ZNF746 ENSG00000181220 ENST00000458143 p.T570T c.1710C>T Silent -
ITIH3 ENSG00000162267 ENST00000449956 p.A125T c.373G>A Missense_Mutation -
P4HB ENSG00000185624 ENST00000439918 p.Y224D c.670T>G Missense_Mutation -
HRNR ENSG00000197915 ENST00000368801 p.G1929G c.5787C>T Silent -
GJB4 ENSG00000189433 ENST00000339480 p.D118N c.352G>A Missense_Mutation -
ZXDB ENSG00000198455 ENST00000374888 p.R483K c.1448G>A Missense_Mutation -
FAS ENSG00000026103 ENST00000355279 p.F133fs c.396_397insT Frame_Shift_Ins -
MPDZ ENSG00000107186 ENST00000541718 p.G312E c.935G>A Missense_Mutation -