Knowledge base for genomic medicine in Japanese
筋ジストロフィー
小児・神経疾患
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表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000023.11:g.(?_31729621)_(31836829_?)delDMDPathogenicX3174773831854946nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31819965)_(31820093_?)delDMDPathogenicX3183808231838210nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31875178)_(31968524_?)delDMDPathogenicX3189329531986641nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31968329)_(31968524_?)delDMDPathogenicX3198644631986641nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32287519)_(32365209_?)delDMDPathogenicX3230563632383326nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32491267)_(32849830_?)delDMDPathogenicX3250938432867947nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32614293)_(32651077_?)delDMDLikely pathogenicX3263241032669194nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32715967)_(33146302_?)dupDMDPathogenicX3271596733146302nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32809483)_(32849830_?)delDMDPathogenicX3282760032867947nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32827600)_(33038327_?)dupDMDPathogenicX3282760033038327nanacriteria provided, single submitter-