Knowledge base for genomic medicine in Japanese
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筋ジストロフィー
小児・神経疾患
Excelでダウンロード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。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NC_000023.11:g.(?_31609621)_(31968524_?)del | DMD | Pathogenic | X | 31627738 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31609621)_(32501852_?)del | DMD | Pathogenic | X | 31627738 | 32519969 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31657970)_(31968534_?)del | DMD | Pathogenic | X | 31676087 | 31986651 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31657980)_(32287711_?)del | DMD | Pathogenic | X | 31676097 | 32305828 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729631)_(31774192_?)del | DMD | Pathogenic | X | 31747748 | 31792309 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773950)_(31879410_?)del | DMD | Pathogenic | X | 31792067 | 31897527 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773950)_(31968524_?)del | DMD | Pathogenic | X | 31792067 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31879410_?)del | DMD | Pathogenic | X | 31838082 | 31897527 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31836708)_(31968524_?)del | DMD | Pathogenic | X | 31854825 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31929586)_(31929755_?)del | DMD | Pathogenic | X | 31947703 | 31947872 | na | na | criteria provided, single submitter | - |
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