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Items: 1 to 20 of 29

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv4097sequence alteration1estd3human GRCh38.p12 chr2: 1,526,370-1,529,578 , NCBI36 chr2: 1,509,149-1,512,357 , GRCh37.p13 chr2: 1,530,142-1,533,350 , GRCh38.p12 chr2|NT_187529.1: 208,741-211,949 TPO
    esv4758sequence alteration1estd3human GRCh38.p12 chr8: 144,677,899-144,681,069 , NCBI36 chr8: 145,874,092-145,877,262 , GRCh37.p13 chr8: 145,903,284-145,906,454 , GRCh38.p12 chr8|NT_187569.1: 50,132-53,302 ARHGAP39
    esv4334sequence alteration1estd3human GRCh37.p13 chr3: 194,543,650-194,546,330 , GRCh38.p12 chr3: 194,822,921-194,825,601 , NCBI36 chr3: 196,024,939-196,027,619 LOC105374292
    esv4805sequence alteration1estd3human GRCh38.p12 chr10: 95,447,193-95,448,482 , NCBI36 chr10: 97,196,940-97,198,229 , GRCh37.p13 chr10: 97,206,950-97,208,239 SORBS1
    esv4347sequence alteration1estd3human GRCh38.p12 chr8: 144,677,899-144,678,913 , NCBI36 chr8: 145,874,092-145,875,106 , GRCh37.p13 chr8: 145,903,284-145,904,298 , GRCh38.p12 chr8|NT_187569.1: 50,132-51,146 ARHGAP39
    esv3500sequence alteration1estd3human NCBI36 chr13: 35,429,437-35,430,446 , GRCh38.p12 chr13: 35,957,300-35,958,309 , GRCh37.p13 chr13: 36,531,437-36,532,446 DCLK1
    esv4762sequence alteration1estd3human NCBI36 chr15: 21,236,742-21,237,389 , GRCh38.p12 chr15: 23,440,154-23,441,149 , GRCh37.p13 chr15: 23,685,301-23,686,296 GOLGA6L2
    esv3695sequence alteration1estd3human GRCh38.p12 chr8: 3,323,812-3,324,494 , NCBI36 chr8: 3,168,741-3,169,423 , GRCh37.p13 chr8: 3,181,334-3,182,016 CSMD1
    esv4141sequence alteration1estd3human GRCh38.p12 chr6: 118,690,627-118,691,089 , NCBI36 chr6: 119,118,483-119,118,945 , GRCh37.p13 chr6: 119,011,790-119,012,252 CEP85L
    esv5169sequence alteration1estd3human NCBI36 chr7: 2,520,968-2,521,322 , GRCh37.p13 chr7: 2,554,442-2,554,796 , GRCh38.p12 chr7: 2,514,808-2,515,162 LFNG
    esv3563sequence alteration1estd3human GRCh38.p12 chr2: 161,074,804-161,075,156 , NCBI36 chr2: 161,639,561-161,639,913 , GRCh37.p13 chr2: 161,931,315-161,931,667 TANK-AS1
    esv4748sequence alteration1estd3human GRCh38.p12 chr10: 125,824,838-125,825,118 , NCBI36 chr10: 127,503,397-127,503,677 , GRCh37.p13 chr10: 127,513,407-127,513,687 BCCIP
    esv4548sequence alteration1estd3human GRCh38.p12 chr9: 109,523,640-109,523,734 , NCBI36 chr9: 111,325,741-111,325,835 , GRCh37.p13 chr9: 112,285,920-112,286,014 PTPN3
    esv5050sequence alteration1estd3human NCBI36 chr6: 160,798,000-160,876,506 , GRCh37.p13 chr6: 160,878,010-160,956,516 , GRCh38.p12 chr6: 160,456,978-160,535,484 LPA, LPAL2
    esv3355sequence alteration1estd3human NCBI36 chr4: 121,373-209,403 , GRCh37.p13 chr4|NW_004775427.1: 156,859-215,614 , GRCh37.p13 chr4: 160,648-219,403 , GRCh38.p12 chr4: 137,592-225,614 ZNF718, ZNF876P, 2 more genes
    esv4858sequence alteration1estd3human NCBI36 chr6: 52,726,524-52,799,326 , GRCh37.p13 chr6: 52,618,565-52,691,367 , GRCh38.p12 chr6: 52,753,767-52,826,569 GSTA1, GSTA2, 2 more genes
    esv3160sequence alteration1estd3human NCBI36 chr6: 31,464,510-31,565,908 , GRCh37.p13 chr6|NT_167249.1: 2,690,316-2,755,239 , GRCh37.p13 chr6: 31,356,531-31,457,929 , GRCh38.p12 chr6: 31,388,754-31,490,152 , GRCh38.p12 chr6|NT_167249.2: 2,691,018-2,755,941 HCP5, HLA-X, 5 more genes
    esv2946sequence alteration1estd3human NCBI36 chr6: 31,336,258-31,430,583 , GRCh37.p13 chr6|NT_167249.1: 2,583,945-2,656,363 , GRCh37.p13 chr6|NT_167246.1: 2,575,159-2,669,059 , GRCh37.p13 chr6: 31,228,279-31,322,604 , GRCh38.p12 chr6: 31,260,502-31,354,827 , GRCh38.p12 chr6|NT_167249.2: 2,584,647-2,657,065 , GRCh38.p12 chr6|NT_167246.2: 2,569,539-2,625,775 HLA-B, HLA-C, 6 more genes
    esv3853sequence alteration1estd3human NCBI36 chr14: 106,164,852-106,344,882 , GRCh37.p13 chr14|NW_004166863.1: 746,715-1,440,762 , GRCh37.p13 chr14: 107,093,807-107,273,837 , GRCh38.p12 chr14: 106,637,802-106,865,622 IGH, IGHVIII-76-1, 34 more genes
    esv3862sequence alteration1estd3human NCBI36 chr8: 11,825,759-11,930,634 , GRCh37.p13 chr8: 11,788,350-11,893,225 , GRCh38.p12 chr8: 11,930,841-12,035,716 , GRCh38.p12 chr8|NW_018654717.1: 1,306,224-1,417,190 OR7E161P, OR7E160P, 8 more genes
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