Table 1.
List of deletions and duplications in the dystrophin gene
| Average Nimblescan/GLAD predicted breakpoint | Size of breakpoint | Array Results | Southern/Multiplex/MLPA Results | HGVS Nomenclature | ||
|---|---|---|---|---|---|---|
| Sample | Start | End | ||||
| 1Mv | 31,995,179 | 31,584,297 | 410,882 | del Ex45 - Ex54 | del Ex45 - Ex52 | c.6439−?_8027+?del |
| 2Mv | 32,469,353 | 32,073,457 | 395,897 | del Ex17 - Ex44 | del Ex17 - Ex44 | c.1993−?_6438+?del |
| 3Mv | 31,811,249 | 31,608,059 | 203,190 | del Ex48 - Ex53 | del Ex48 - Ex52 | c.6913−?_7872+?del |
| 4Mv | 32,842,800 | 32,662,600 | 180,200 | del Ex3 - Ex7 | del Ex3 - Ex7 | c.94−?_649+?del |
| 5Mv | 32,181,888 | 32,098,595 | 83,293 | del Ex44 | del Ex44 | c.6291−?_6438+?del |
| 6Mv | 32,003,438 | 31,855,778 | 147,661 | del Ex45 - Ex47 | del Ex45 - Ex47 | c.6439−?_6912+?del |
| 7Mv | 31,877,576 | 31,620,852 | 256,724 | del Ex46 - Ex52 | del Ex46 - Ex52 | c.6615−?_7660+?del |
| 8Mv | 31,824,256 | 31,637,403 | 186,853 | del Ex48 - Ex52 | del Ex48 - Ex52 | c.6913−?_7660+?del |
| 9Mv | 33,013,846 | 32,761,242 | 252,604 | dup Ex2 - Ex4 | dup Ex2 - Ex4 | c.32−?_264+?dup |
| 10Mv | 31,784,750 | 31,736,250 | 48,500 | del Ex49 - Ex50 | del Ex49 - Ex50 | c.7099−?_7309+?del |
| 11Mv | 32,474,250 | 32,094,750 | 379,500 | del Ex17 - Ex44 | del Ex17 - Ex44 | c.1993−?_6438+?del |
| 12Mv | 32,794,750 | 32,676,750 | 118,000 | dup Ex3 - Ex7 | dup Ex3 - Ex7 | c.94−?_649+?dup |
| 13Mv | 31,715,250 | 31,503,750 | 211,500 | dup Ex51 - Ex55 | dup Ex51 - 55 | c.7310−?_8217+?dup |
| 14Mv | 31,645,750 | 31,533,250 | 112,500 | del Ex53 - Ex55 | del Ex53 - Ex55 | c.7661−?_8217+?del |
| 15Mv | 33,026,750 | 32,761,250 | 265,500 | dup Ex2 - Ex4 | dup Ex2 - Ex4 | c.32−?_264+?dup |
| 16Fv | 31,864,405 | 31,555,638 | 308,767 | del Ex46 - Ex55 | del Ex46 - Ex55 | c.6615+?_8217+?del |
| 17Fv | 31,781,840 | 31,736,096 | 45,744 | del Ex49 - Ex50 | del Ex49 - Ex50 | c.7099−?_7309+?del |
| 18Fv | 32,779,413 | 32,706,289 | 73,125 | del Ex4 - Ex7 | del Ex3 - Ex7 | c.94−?_649+?del |
| 19Fv | 31,948,537 | 31,518,523 | 430,014 | del Ex45 - Ex55 | del Ex45 - Ex52 | c.6439−?_8217+?del |
| 20Fv | 31,799,723 | 31,723,560 | 76,164 | del Ex49 - Ex50 | del Ex48 - Ex50 | c.7099−?_7309+?del |
| 21Fv | 31,499,751 | 31,046,000 | 453,751 | del Ex56 - Ex79 | del Ex56 - Ex79 | c.8218−?_11058+?del |
| 22Fv | 31,495,434 | 31,046,000 | 449,434 | del Ex56 - Ex79 | del Ex56 - Ex79 | c.8218−?_11058+?del |
| 23Fv | 32,453,261 | 32,275,827 | 177,434 | dup Ex18 - Ex38 | dup Ex18 - Ex38 | c.2169−?_5448+?dup |
| 24Fv | 32,037,000 | 31,867,000 | 170,000 | del Ex45 | del Ex45 | c.6439+?_6614+?del |
| 25Fv | 32,191,750 | 32,030,750 | 161,000 | dup Ex44 | dup Ex44 | c.6291−?_6438+?dup |
| 26Fv | 32,633,250 | 32,521,250 | 112,000 | del Ex8 - Ex13 | del Ex8 - Ex13 | c.831−?1602+?del |
| 27Fv | 32,622,750 | 32,313,750 | 309,000 | del Ex10 - Ex33 | del Ex10 - Ex33 | c.961−?_4674+?del |
| 28Fv | 31,969,750 | 31,703,750 | 266,000 | del Ex45 - Ex50 | del Ex45 - Ex50 | c.6439−?_7309+?del |
| 29Fv | 32,488,250 | 32,425,250 | 63,000 | del Ex17 - Ex19 | del Ex17 - Ex19 | c.1993−?_2380+?del |
| 1Mc | 32,719,450 | 32,575,950 | 143,500 | del Ex8 - Ex11 | del Ex8 - Ex11 | c.650−?_1331+?del |
| 2Mc | 33,026,750 | 32,761,250 | 265,500 | dup Ex2 - Ex4 | dup Ex2 - Ex4 | c.32−?_264+?dup |
| 3Mc | 32,037,000 | 31,867,000 | 170,000 | del Ex45 | del Ex45 | c.6439−?_6614+?del |
| 4Mc | 31,981,750 | 31,563,750 | 418,000 | del Ex45 - Ex54 | del Ex45 - Ex54 | c.6439−?_8027+?del |
| 5Mc | 32,633,250 | 32,521,250 | 112,000 | del Ex8 - Ex13 | del Ex8 - Ex13 | c.650−?_1602+?del |
| 6Mc | 31,715,250 | 31,503,750 | 211,500 | dup Ex51 - Ex55 | dup Ex51 - Ex55 | c.7310−?_8217+?dup |
| 7Mc | 32,622,750 | 32,313,750 | 309,000 | del Ex10 - Ex33 | del Ex10 - Ex33 | c.961−?_4674+?del |
| 8Mc | 31,645,750 | 31,533,250 | 112,500 | del Ex53 - Ex55 | del Ex53 - Ex55 | c.7661−?_8217+?del |
| 9Mc | 31,969,750 | 31,703,750 | 266,000 | del Ex45 - Ex50 | del Ex45 - Ex50 | c.6439−?_7309+?del |
| 10Mc | 32,455,250 | 32,444,250 | 11,000 | del Ex18 | del Ex18 | c.2169−?_2292+?del |
| 11Mc | 32,488,250 | 32,425,250 | 63,000 | del Ex17 - Ex19 | del Ex17 - Ex19 | c.1993−?_2380+?del |
| 12Mc | 32,629,450 | 32,572,850 | 56,600 | dup Ex8 - Ex10 | dup Ex8 - Ex10 | c.650−?_1149+?del |
| 13Mc | 31,702,250 | 31,573,250 | 129,000 | del Ex54 | del Ex54 | c.7873−?_8027+?del |
| 14Mc | 31,989,750 | 31,578,750 | 411,000 | del Ex45 - Ex54 | del Ex45 - Ex54 | c.6439−?_8027+?del |
| 15Mc | 32,628,500 | 32,561,500 | 67,000 | dup Ex8 - Ex11 | dup Ex8 - Ex11 | c.650−?_1331+?dup |
| 16Mc | 31,661,000 | 31,641,000 | 20,000 | del Ex52 | del Ex52 | c.7543−?_7660+?del |
| 17Mc | 32,014,750 | 31,838,750 | 176,000 | del Ex45 - Ex47 | del Ex45 - Ex47 | c.6439−?_6912+?del |
| 18Mc | 32,212,750 | 31,720,250 | 492,500 | dup Ex44 - Ex50 | dup Ex44 - Ex50 | c.6291−?_7390+?dup |
| 19Mc | 31,615,750 | 31,607,250 | 8,500 | del Ex51 - Ex53 | del Ex51 - Ex53 | c.7310−?_7872+?del |
| 20Mc | 31,939,750 | 31,797,750 | 142,000 | del Ex45-Ex48 | del Ex45-Ex48 | c.6439−?_7098+?del |
| 21Mc | 32,000,750 | 31,874,250 | 126,500 | del Ex45 | del Ex45 | c.6439−?_6614+?del |
| 22Mc | 31,438,250 | 31,434,250 | 4,000 | del Ex56 | del Ex56 | c.8218−?_8390+?del |
| 23Mc | 32,092,250 | 31,979,750 | 112,500 | dup Ex35 - Ex44 | dup Ex35 - Ex44 | c.4846−?_6438+?dup |
| 24Mc | 32,518,250 | 32,484,250 | 34,000 | dup Ex3 - Ex16 | dup Ex3 - Ex16 | c.94−?_1992+?dup |
| 25Mc | 32,728,750 | 32,500,750 | 228,000 | dup Ex3 - Ex15 | dup Ex3 - Ex15 | c.94−?_1812+?dup |
| 26Mc | 31,921,250 | 31,886,250 | 35,000 | del Ex45 | del Ex45 | c.6439−?_6614+?del |
| 27Mc | 31,764,750 | 31,623,750 | 141,000 | del Ex49 - Ex52 | del Ex49 - Ex52 | c.7099−?_7660+?del |
| 28Mc | 32,590,500 | 32,452,500 | 138,000 | dup Ex10 -Ex17 | dup Ex10 -Ex17 | c.961−?_2168+?dup |
| 29Mc | 32,609,500 | 32,453,500 | 156,000 | dup Ex10 -Ex17 | dup Ex10 -Ex17 | c.961−?_2168+?dup |
| 30Mc | 31,870,250 | 31,667,750 | 202,500 | del Ex46 - Ex51 | del Ex46 - Ex51 | c.6615−?_7542+?del |
| 31Mc | 33,013,750 | 32,980,750 | 33,000 | del intron 1 | c.31+?_32−?del | |
| 32,899,250 | 32,888,250 | 11,000 | del intron 2 | c.93+?_94−?del | ||
| 32Fc | 32,794,750 | 32,676,750 | 118,000 | dup Ex3 - Ex7 | dup Ex3 - Ex7 | c.94−?_649+?dup |
| 33Fc | 32,191,750 | 32,030,750 | 161,000 | dup Ex44 | dup Ex44 | c.6291−?_6438+?dup |
| 34Fc | 32,628,750 | 32,557,750 | 71,000 | dup Ex8 - Ex11 | dup Ex8 - Ex11 | c.650−?_1331+?dup |
| 35Fc | 31,877,750 | 31,729,250 | 148,500 | del Ex46 - Ex50 | del Ex46 - Ex50 | c.6615−?_7309+?del |
| 36Fc | 32,834,250 | 32,485,250 | 349,000 | dup Ex3 - Ex16 | dup Ex3 - Ex16 | c.94−?_1992+?dup |
Samples listed included validation samples and mutations identified in clinical sample (GenBank file NM_004006.1). Key: Mv –Male validation, Fv – Female Validation, Mc – Male Clinical, Fc – Female Clinical. HGVS- Human Genome Variation Society