Knowledge base for genomic medicine in Japanese
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家族性大腸腺腫症
腫瘍性疾患
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_000005.10:g.(?_112780790)_(112846239_?)del | APC | Pathogenic | 5 | 112116487 | 112181936 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000038.5(APC):c.-85_*2113del | APC | Pathogenic | 5 | 112073556 | 112181936 | na | na | criteria provided, single submitter | - |
| Deletion | NG_008481.4:g.(?_150033)_(158719_?)del | APC | Pathogenic | 5 | 112173250 | 112181936 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112827098)_(112844136_?)del | APC | Pathogenic | 5 | 112162795 | 112179833 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112766316)_(112844136_?)del | APC | Pathogenic | 5 | 112102013 | 112179833 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112707312)_(112844136_?)del | APC | Pathogenic | 5 | 112043009 | 112179833 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112737024)_(112844136_?)del | APC | Pathogenic | 5 | 112072721 | 112179833 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112775623)_(112844132_?)del | APC | Pathogenic | 5 | 112111320 | 112179829 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112837547)_(112844132_?)del | APC | Pathogenic | 5 | 112173244 | 112179829 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000005.10:g.(?_112827923)_(112844132_?)del | APC | Pathogenic | 5 | 112163620 | 112179829 | na | na | criteria provided, single submitter | - |
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