Population | Mutation type | Reading-frame rule | Length of potential protein | Number of potential stop-gains | Joint prediction (Rules) | Joint prediction (Rules & patterns) |
---|---|---|---|---|---|---|
TREAT-NMD DMD patients | large deletions/duplications | 5161/5681 = 90.8% NA 520/5681 = 9.2% | 5283/5681 = 93.0% NA 398/5681 = 7.0% | 5180/5681 = 91.2% NA 501/5681 = 8.8% | 5419/5681 = 95.4% NA 262/5681 = 4.6% | 5463/5681 = 96.2% NA 218/5681 = 3.8% |
small deletions/duplications | 475/483 = 98.3% NA 8/483 = 1.7% | 408/483 = 84.5% NA 75/483 = 15.5% | 476/483 = 98.6% NA 7/483 = 1.4% | 476/483 = 98.6% NA 7/483 = 1.4% | 476/483 = 98.6% NA 7/483 = 1.4% | |
splice sites | 155/198 = 78.3% NA 43/198 = 21.7% | 99/198 = 50.0% NA 99/198 = 50.0% | 155/198 = 78.3% NA 43/198 = 21.7% | 155/198 = 78.3% NA 43/198 = 21.7% | 155/198 = 78.3% NA 43/198 = 21.7% | |
total | 5791/6362 = 91.0% NA 571/6362 = 9.0% | 5790/6362 = 91.0% NA 572/6362 = 9.0% | 5811/6362 = 91.3% NA 551/6362 = 8.7% | 6050/6362 = 95.1% NA 312/6362 = 4.9% | 6094/6362 = 96.8% NA 268/6362 = 4.2% | |
nonsense | 598/726 = 82.4% NA 128/726 = 17.6% | 725/726 = 99.9% NA 1/726 = 0.1% | 725/726 = 99.9% NA 1/726 = 0.1% | 725/726 = 99.9% NA 1/726 = 0.1% | ||
Flanigan’s DMD patients | large deletions/duplications | 369/435 = 84.8% 23/435 = 5.3% 43/435 = 9.8% | 374/435 = 86.0% 31/435 = 7.1% 30/435 = 6.9% | 370/435 = 85.1% 24/435 = 5.5% 41/435 = 9.4% | 386/435 = 88.7% 31/435 = 7.1% 18/435 = 4.1% | 389/435 = 89.4% 32/435 = 7.4% 14/435 = 3.2% |
small deletions/duplications | 69/78 = 88.5% 7/78 = 9.0% 2/78 = 2.6% | 59/78 = 75.6% 4/78 = 5.1% 15/78 = 19.2% | 69/78 = 88.5% 7/78 = 9.0% 2/78 = 2.6% | 69/78 = 88.5% 7/78 = 9.0% 2/78 = 2.6% | 69/78 = 88.5% 7/78 = 9.0% 2/78 = 2.6% | |
splice sites | 17/22 = 77.3% 1/22 = 4.5% 4/22 = 18.2% | 12/22 = 54.5% 1/22 = 4.5% 9/22 = 40.9% | 17/22 = 77.3% 1/22 = 4.5% 4/22 = 18.2% | 17/22 = 77.3% 1/22 = 4.5% 4/22 = 18.2% | 17/22 = 77.3% 1/22 = 4.5% 4/22 = 18.2% | |
total | 455/535 = 85.0% 31/535 = 5.8% 49/533 = 9.2% | 445/535 = 83.2% 36/535 = 6.7% 54/535 = 10.1% | 456/535 = 85.2% 32/535 = 6.0% 47/535 = 8.8% | 472/535 = 88.2% 39/535 = 7.3% 24/535 = 4.5% | 475/535 = 88.8% 40/535 = 7.5% 20/535 = 3.7% | |
nonsense | 146/206 = 70.9% 31/206 = 15.0% 29/206 = 14.1% | 176/206 = 85.4% 0/206 = 0% 30/206 = 14.6% | 176/206 = 85.4% 0/206 = 0% 30/206 = 14.6% | 176/206 = 85.4% 0/206 = 0% 30/206 = 14.6% | ||
GHCPAPF DMD patients | large deletions/duplications | 213/231 = 92.2% 0/231 = 0% 18/231 = 7.8% | 217/231 = 93.9% 5/231 = 2.2% 9/231 = 3.9% | 217/231 = 93.9% 0/231 = 0% 14/231 = 6.1% | 218/231 = 94.4% 5/231 = 2.2% 8/231 = 3.5% | 218/231 = 94.4% 6/231 = 2.6% 7/231 = 3.0% |
small deletions/duplications | 15/17 = 88.2% 1/17 = 5.9% 1/17 = 5.9% | 13/17 = 76.5% 1/17 = 5.9% 3/17 = 17.6% | 15/17 = 88.2% 1/17 = 5.9% 1/17 = 5.9% | 15/17 = 88.2% 1/17 = 5.9% 1/17 = 5.9% | 15/17 = 88.2% 1/17 = 5.9% 1/17 = 5.9% | |
splice sites | 1/1 = 100.0% 0/1 = 0% 0/1 = 0% | 1/1 = 100.0% 0/1 = 0% 0/1 = 0% | 1/1 = 100.0% 0/1 = 0% 0/1 = 0% | 1/1 = 100.0% 0/1 = 0% 0/1 = 0% | 1/1 = 100.0% 0/1 = 0% 0/1 = 0% | |
total | 229/249 = 92.0% 1/249 = 0.4% 19/249 = 7.6% | 231/249 = 92.8% 6/249 = 2.4% 12/249 = 4.8% | 233/249 = 93.6% 1/249 = 0.4% 15/249 = 6.0% | 234/249 = 94.0% 6/249 = 2.4% 9/249 = 3.6% | 234/249 = 94.0% 7/249 = 2.8% 8/249 = 3.2% | |
nonsense | 18/19 = 94.7% 1/19 = 5.3% 0/19 = 0% | 19/19 = 100.0% 0/19 = 0% 0/19 = 0% | 19/19 = 100.0% 0/19 = 0% 0/19 = 0% | 19/19 = 100.0% 0/19 = 0% 0/19 = 0% |