|
Gene / Disease
|
Basic |
Advanced |
Total |
| Gene |
39 |
443 |
482 |
| Disease |
134 |
902 |
1036 |
|
Mutation
|
|
Basic |
Advanced |
Total |
| NONSENSE :
| Mutation #
| 824 |
1925 |
2749 |
| Case #
| 925 |
5242 |
6167 |
| MISSENSE :
| Mutation #
| 2500 |
8581 |
11081 |
| Case #
| 3313 |
34239 |
37552 |
| DELETION :
| Mutation #
| 118 |
700 |
818 |
| Case #
| 125 |
1441 |
1566 |
| FRAMESHIFTDEL :
| Mutation #
| 1210 |
3106 |
4316 |
| Case #
| 1229 |
7592 |
8821 |
| LARGEDEL :
| Mutation #
| 0 |
353 |
353 |
| Case #
| 0 |
1033 |
1033 |
| INSERTION :
| Mutation #
| 14 |
82 |
96 |
| Case #
| 17 |
1035 |
1052 |
| FRAMESHIFTINS :
| Mutation #
| 307 |
924 |
1231 |
| Case #
| 312 |
1592 |
1904 |
| LARGEINS :
| Mutation #
| 0 |
2 |
2 |
| Case #
| 0 |
168 |
168 |
| INDEL :
| Mutation #
| 21 |
202 |
223 |
| Case #
| 21 |
380 |
401 |
| FRAMESHIFTIDL :
| Mutation #
| 56 |
58 |
114 |
| Case #
| 56 |
117 |
173 |
| LARGEIDL :
| Mutation #
| 0 |
3 |
3 |
| Case #
| 0 |
3 |
3 |
| DUPLICATION :
| Mutation #
| 0 |
205 |
205 |
| Case #
| 0 |
414 |
414 |
| TRIPLETREP :
| Mutation #
| 0 |
9 |
9 |
| Case #
| 0 |
293 |
293 |
| TRANSLOCATION :
| Mutation #
| 0 |
15 |
15 |
| Case #
| 0 |
21 |
21 |
| SPLICING :
| Mutation #
| 0 |
1436 |
1436 |
| Case #
| 0 |
4340 |
4340 |
| REGULATION :
| Mutation #
| 0 |
11 |
11 |
| Case #
| 0 |
15 |
15 |
| PROMOTER :
| Mutation #
| 0 |
12 |
12 |
| Case #
| 0 |
12 |
12 |
| COMPLEX :
| Mutation #
| 0 |
49 |
49 |
| Case #
| 0 |
50 |
50 |
|
Polymorphism
Literature #
|
