Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)PKHD1Likely pathogenic65189076451890794GGACCACGGGCGAAGAACCTGTTGCCAGCCCAGcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.7912-1G>APKHD1Likely pathogenic65171276951712769CTcriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)PKHD1Likely pathogenic65152436251524363CTGCcriteria provided, single submitter-
DuplicationNM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)PKHD1Likely pathogenic65152440051524401GGAcriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.10411del (p.Val3471fs)PKHD1Pathogenic/Likely pathogenic65152451351524513ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.2822-1G>CPKHD1Likely pathogenic65190793351907933CGcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.2715+1G>CPKHD1Likely pathogenic65190976351909763CGcriteria provided, single submitter-
DuplicationNM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)PKHD1Likely pathogenic65192156251921563GGTAACcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.7912-2A>GPKHD1Likely pathogenic65171277051712770TCcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.603-1G>APKHD1Likely pathogenic65193586951935869CTcriteria provided, single submitter-