Knowledge base for genomic medicine in Japanese
ポリメラーゼ校正関連ポリポーシス
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_006231.4(POLE):c.4959del (p.His1654fs)POLEPathogenic12133218977133218977GAGcriteria provided, single submitter-
DeletionNM_006231.4(POLE):c.4593_4611del (p.Ala1532fs)POLEPathogenic12133219523133219541GGAGGAGGCCGTGCTCTGCTGcriteria provided, single submitter-
DuplicationNM_006231.4(POLE):c.4552-1dupPOLEPathogenic12133219581133219582AACcriteria provided, single submitter-
DeletionNM_006231.4(POLE):c.4231_4232del (p.Ile1411fs)POLEPathogenic12133220481133220482GATGcriteria provided, single submitter-
DeletionNM_006231.4(POLE):c.3071del (p.Met1024fs)POLEPathogenic12133236085133236085CACcriteria provided, single submitter-
single nucleotide variantNM_006231.4(POLE):c.3039G>A (p.Trp1013Ter)POLEPathogenic12133237576133237576CTcriteria provided, single submitter-
DeletionNM_006231.4(POLE):c.2956del (p.Gln986fs)POLEPathogenic12133237659133237659TGTcriteria provided, single submitter-
single nucleotide variantNM_006231.4(POLE):c.2811C>A (p.Tyr937Ter)POLEPathogenic12133238166133238166GTcriteria provided, single submitter-
single nucleotide variantNM_006231.4(POLE):c.2551G>T (p.Glu851Ter)POLEPathogenic12133240966133240966CAcriteria provided, single submitter-
DeletionNM_006231.4(POLE):c.2473_2492del (p.Arg825fs)POLEPathogenic12133241025133241044CATCTCCATGGAGTACCAGCGCcriteria provided, single submitter-