|
Size of deletion or duplication
|
Independent cases (N = 120)
|
Distribution (%)
|
Exon deleted or duplicated
|
Fragment deleted or duplicated Δ
|
IF/OF OF
|
Minimal deletion/duplication (bp)
|
|---|
|
1 exon (n = 32)
|
1
|
0.83
|
DelEX07
|
c.531-?*_649+?*del
|
OF
|
118
|
| |
1
|
0.83
|
DelEX17
|
c.1993-?_2168+?del
|
OF
|
175
|
| |
2
|
1.67
|
DelEX18
|
c.2169-?_2292+?del
|
OF
|
123
|
| |
1
|
0.83
|
DelEX19
|
c.2293-?_2380+?del
|
OF
|
?
|
| |
1
|
0.83
|
DelEX35
|
c.4846-?_5025+?del
|
IF
|
179
|
| |
2
|
1.67
|
DelEX43
|
c.6118-?_6290+?del
|
OF
|
172
|
| |
1
|
0.83
|
DelEX44
|
c.6291-?_6438+?del
|
OF
|
147
|
| |
5
|
4.17
|
DelEX45
|
c.6439-?_6614+?del
|
OF
|
175
|
| |
2
|
1.67
|
DelEX50
|
c.7201-?_7309+?del
|
OF
|
108
|
| |
6
|
5
|
DelEX51
|
c.7310-?_7542+?del
|
OF
|
232
|
| |
6
|
5
|
DelEX52
|
c.7543-?_7660+?del
|
OF
|
117
|
| |
2
|
1.67
|
DelEX53*
|
c.7661-?_7872+?del
|
OF
|
211
|
| |
2
|
1.67
|
DelEX54
|
c.7873-?_8027+?del
|
OF
|
154
|
|
2 exons (n = 10)
|
1
|
0.83
|
DelEX10-11
|
c.961-?_1331+?del
|
OF
|
1020
|
| |
1
|
0.83
|
DelEX42-43
|
c.5923-?_6290+?del
|
OF
|
22747
|
| |
2
|
1.67
|
DelEX46-47
|
c.6615-?_6912+?del
|
OF
|
2631
|
| |
4
|
3.33
|
DelEX48-49
|
c.6913-?_7200+?del
|
IF
|
38655
|
| |
2
|
1.67
|
DelEX49-50
|
c.7099-?_7309+?del
|
OF
|
104
|
|
3 exons (n = 17)
|
1
|
0.83
|
DelEX03-05
|
c.94-?_357+?del
|
IF
|
26525
|
| |
2
|
0.83
|
DelEX46-48
|
c.6615-?_7098+?del
|
OF
|
57036
|
| |
6
|
5
|
DelEX48-50
|
c.6913-?_7309+?del
|
OF
|
55398
|
| |
2
|
1.67
|
DelEX50-52
|
c.7201-?_7660+?del
|
OF
|
90452
|
| |
3
|
2.5
|
DelEX51-53
|
c.7310-?_7872+?del
|
OF
|
94817
|
| |
1
|
0.83
|
DelEX52-54
|
c.7543-?_8027+?del
|
OF
|
71758
|
| |
2
|
1.67
|
DelEX53-55
|
c.7661-?_8217+?del
|
OF
|
51913
|
|
4 exons (n = 9)
|
1
|
0.83
|
DelEX10-13
|
c.961-?_1602+?del
|
IF
|
49395
|
| |
1
|
0.83
|
DelEX22-25
|
c.2804-?_3432+?del
|
OF
|
8870
|
| |
3
|
2.5
|
DelEX45-48
|
c.6439-?_7098+?del
|
IF
|
93323
|
| |
1
|
0.83
|
DelEX46-49
|
c.6615-?_7200+?del
|
OF
|
95509
|
| |
2
|
1.67
|
DelEX49-52
|
c.7099-?_7660+?del
|
OF
|
107011
|
| |
1
|
0.83
|
DelEX50-53
|
c.7201-?_7872+?del
|
IF
|
140708
|
|
5 exons (n = 12)
|
2
|
1.67
|
DelEX03-07
|
c.94-?_649+?del
|
OF
|
40327
|
| |
1
|
0.83
|
DelEX13-17
|
c.1483-?_2168+?del
|
OF
|
50717
|
| |
1
|
0.83
|
DelEX17-21
|
c.1993-?_2803+?del
|
OF
|
60415
|
| |
3
|
2.5
|
DelEX46-50
|
c.6615-?_7309+?del
|
OF
|
102252
|
| |
3
|
2.5
|
DelEX48-52
|
c.6913-?_7660+?del
|
OF
|
145742
|
| |
1
|
0.83
|
DelEX50-54
|
c.7201-?_8027+?del
|
OF
|
162093
|
| |
1
|
0.83
|
DelEX51-55
|
c.7310-?_8217+?del
|
OF
|
146519
|
|
6 exons (n = 13)
|
7
|
5.83
|
DelEX45-50
|
c.6439-?_7309+?del
|
OF
|
148539
|
| |
1
|
0.83
|
DelEX46-51
|
c.6615-?_7542+?del
|
OF
|
158627
|
| |
1
|
0.83
|
DelEX47-52
|
c.6763-?_7660+?del
|
OF
|
200114
|
| |
4
|
3.33
|
DelEX49-54
|
c.7099-?_8027+?del
|
OF
|
178832
|
|
7 exons (n = 2)
|
2
|
1.67
|
DelEX46-52
|
c.6615-?_7660+?del
|
OF
|
202596
|
|
8 exons (n = 5)
|
4
|
3.33
|
DelEX45-52
|
c.6439-?_7660+?del
|
OF
|
238883
|
| |
1
|
0.83
|
DelEX46-53
|
c.6615-?_7872+?del
|
OF
|
252852
|
|
10 exons (n = 6)
|
3
|
2.5
|
DelEX45-54
|
c.6439-?_8027+?del
|
OF
|
310524
|
| |
3
|
2.5
|
DelEX46-55
|
c.6615-?_8217+?del
|
OF
|
304554
|
|
11 exons (n = 3)
|
3
|
2.5
|
DelEX45-55
|
c.6439-?_8217+?del
|
IF
|
340841
|
|
12 exons (n = 1)
|
1
|
0.83
|
DelEX31-42
|
c.4234-?_6117+?del
|
IF
|
80099
|
|
16 exons (n = 1)
|
1
|
0.83
|
DelEX8-23
|
c.650-?_3162+?del
|
OF
|
230795
|
|
20 exons (n = 1)
|
1
|
0.83
|
DelEX11-30
|
c.1150-?_4233+?del
|
IF
|
232561
|
|
27 exons (n = 1)
|
1
|
0.83
|
DelEX3-29
|
c.832-?_3162+?del
|
IF
|
411579
|
|
30 exons (n = 1)
|
1
|
0.83
|
DelEX10-39
|
c.961-?_5586+?del
|
IF
|
299209
|
|
35 exons (n = 1)
|
1
|
0.83
|
DelEX10-44
|
c.961-?_6438+?del
|
IF
|
428236
|
|
37 exons (n = 1)
|
1
|
0.83
|
DelEx8-44
|
c.650-?_6438+?del
|
OF
|
482377
|
|
39 exons (n = 1)
|
1
|
0.83
|
DelEX3-41
|
c.94-?_5922+?del
|
IF
|
507720
|
|
41 exons (n = 1)
|
1
|
0.83
|
DelEX3-43
|
c.94-?_6290+?del
|
OF
|
562291
|
|
42 exons (n = 2)
|
2
|
1.67
|
DelEX3-44
|
c.94-?_6438+?del
|
IF
|
632904
|
|
Dup1 exons
|
1
|
0.83
|
DupEX45
|
c.6439?_6614+?dup
|
OF
|
175
|
|
Dup3 exons
|
1
|
0.83
|
DupEX48-50
|
c.6913?_7309+?dup
|
OF
|
55398
|
|
Dup5 exons
|
1
|
0.83
|
DupEX3-7
|
c.94-?_649+?dup
|
OF
|
40327
|
|
Dup11 exons
|
1
|
0.83
|
DupEX64-74
|
?
|
OF
|
53678
|
|
Dup14 exons
|
1
|
0.83
|
DupEX3-16
|
c.94-?_1992+?dup
|
IF
|
284118
|
|
Dup21 exons
|
1
|
0.83
|
DupEX54-74
|
c.7873-?_10553+?dup
|
OF
|
488701
|
|
Dup27 exons
|
1
|
0.83
|
DupEX8-34
|
c.650-?_4845+?dup
|
OF
|
318783
|
|
Dup29 exons
|
1
|
0.83
|
DupEX13-41
|
c.1483-?_5922+?dup
|
IF
|
253776
|
|
Dup37 exons
|
1
|
0.83
|
DupEX8-44
|
c.650-?_6438+?dup
|
OF
|
482377
|
|
Dup41 exons
|
1
|
0.83
|
DupEX3-43
|
c.94-?_6290+?dup
|
OF
|
562291
|
- Δ: data were obtained through online search from [26].
- ?: the actual breakpoint is unknown.
- *: DNA sequencing analysis determined that this single exon deletion is due to a single base pair deletion (Fig. 2).
- IF/OF: in frame or out-of-frame.
