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)
single nucleotide variantNM_138694.4(PKHD1):c.11665+1G>APKHD1Likely pathogenic65149736251497362CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.11311-2A>GPKHD1Likely pathogenic65151291851512918TCcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.8303-2A>GPKHD1Likely pathogenic65165617351656173TCcriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.7122del (p.Phe2374fs)PKHD1Pathogenic65175075851750758CACcriteria provided, multiple submitters, no conflicts-
DeletionNM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)PKHD1Likely pathogenic65152418951524189ACAcriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.6490+1G>APKHD1Likely pathogenic65177659651776596CTcriteria provided, single submitter-
DuplicationNM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)PKHD1Likely pathogenic65161288251612883CCAAcriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)PKHD1Likely pathogenic65161330151613301TATcriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)PKHD1Pathogenic65177670451776704TATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.8950+1G>TPKHD1Likely pathogenic65161799851617998CAcriteria provided, multiple submitters, no conflicts-