| point mutation |
289730 |
| substitution |
285373 |
| synonymous mutation |
2620 |
| nonsynonymous mutation |
236143 |
| missense |
187925 |
| nonsense |
40610 |
| nonstop |
500 |
| start codon mutation |
1153 |
| deletion-insertion |
3709 |
| frameshift deletion-insertion |
1740 |
| in-frame deletion-insertion |
86 |
| translocation |
522 |
| complex structural variant |
964 |
| repeat |
1332 |
| not provided |
84152 |
| splice site mutation |
29455 |
| splice acceptor site mutation |
8638 |
| splice donor site mutation |
3591 |
| splice site missense |
54 |
| splice site nonsense |
105 |
| splice site duplication |
125 |
| splice site insertion |
442 |
| splice site synonymous |
23 |
| splice site deletion |
1157 |
| splice site deletion-insertion |
66 |
| frameshift |
25641 |
| frameshift nonsynonymous |
1284 |
| frameshift missense |
268 |
| frameshift nonsense |
1014 |
| in-frame |
164 |
| duplication |
17542 |
| frameshift duplication |
7947 |
| in-frame duplication |
818 |
| inversion |
240 |
| alleles |
14 |
| deletion |
83794 |
| frameshift deletion |
38483 |
| in-frame deletion |
2547 |
| insertion |
16107 |
| frameshift insertion |
6159 |
| in-frame insertion |
339 |