Knowledge base for genomic medicine in Japanese
先天性プロテインS欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionSingle allelePROS1Likely pathogenic39359183193692960nanacriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.1155+5G>APROS1Pathogenic/Likely pathogenic39361177293611772CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000313.3(PROS1):c.-168C>TPROS1Likely pathogenic39369276193692761GAcriteria provided, single submitter-
DuplicationNM_000313.4(PROS1):c.49dup (p.Leu17fs)PROS1Likely pathogenic39369254493692545AAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000313.4(PROS1):c.353C>T (p.Pro118Leu)PROS1Likely pathogenic39362498193624981GAcriteria provided, single submitter-
DeletionNM_000313.4(PROS1):c.785del (p.Gly262fs)PROS1Pathogenic39361735693617356ACAcriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.913C>T (p.Gln305Ter)PROS1Likely pathogenic39361547293615472GAcriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.970T>C (p.Ser324Pro)PROS1Likely pathogenic39361196293611962AGcriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)PROS1Likely pathogenic39361180693611806CTcriteria provided, single submitter-
DeletionNM_000313.4(PROS1):c.1284del (p.Gly429fs)PROS1Likely pathogenic39360521993605219CTCcriteria provided, single submitter-