BTKbase Variation registry for
X-linked agammaglobulinemia (XLA)
BTKbase mutation types
The BTKbase variation types
domain
upstream
PH (414)
TH (231)
SH3 (194)
SH2 (292)
TK (846)
other
total
% of total
type
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
all
fam
uniq
missense
0
0
0
119
100
48
11
10
10
0
0
0
112
93
42
328
290
147
0
0
0
570
493
247
41.5
40.8
33.3
nonsense
0
0
0
44
40
19
16
14
9
46
39
11
23
22
12
97
85
43
0
0
0
226
200
94
16.4
16.5
12.7
deletion; in-frame
1
1
1
11
6
6
2
2
2
0
0
0
5
5
4
21
18
11
0
0
0
40
32
24
2.9
2.6
3.2
deletion; frameshift
0
0
0
3
2
1
0
0
0
0
0
0
1
1
1
2
1
1
4
3
3
10
7
6
0.7
0.6
0.8
gross deletion
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0
14
14
14
14
14
14
1.0
1.2
1.9
insertion; in-frame
0
0
0
3
3
2
0
0
0
0
0
0
0
0
0
3
3
3
0
0
0
6
6
5
0.4
0.5
0.7
insertion; frameshift
0
0
0
3
2
1
0
0
0
1
1
0
0
0
0
0
0
0
0
0
0
4
3
1
0.3
0.2
0.1
indel
0
0
0
3
3
3
3
3
3
2
2
2
1
1
1
6
6
5
0
0
0
15
15
14
1.1
1.2
1.9
intron
11
10
6
27
23
14
9
8
5
6
5
3
29
28
20
65
59
35
6
6
6
153
139
89
11.1
11.5
12.0
intron; in-frame
0
0
0
3
3
2
0
0
0
1
1
1
6
4
3
0
0
0
1
1
1
11
9
7
0.8
0.7
0.9
intron; out-of-frame
0
0
0
7
6
5
1
1
1
1
1
1
6
3
3
15
12
10
2
2
2
32
25
22
2.3
2.1
3.0
frameshift
0
0
0
63
56
41
37
31
26
23
22
18
37
34
30
86
81
66
2
1
1
248
225
182
18.0
18.6
24.5
multiple variant
0
0
0
7
6
4
5
5
5
2
2
2
0
0
0
6
4
2
0
0
0
20
17
13
1.5
1.4
1.8
complex
2
1
1
3
2
2
0
0
0
2
2
2
1
1
1
2
2
2
1
1
1
11
9
9
0.8
0.7
1.2
unknown
4
4
4
1
1
1
0
0
0
0
0
0
0
0
0
2
2
2
8
8
8
15
15
15
1.1
1.2
2.0
total
18
16
12
297
253
149
84
74
61
84
75
40
221
192
117
633
563
327
38
36
36
1375
1209
742
100
100
100
uniq = Unique molecular events in DNA sequence
fam = Unrelated families
all = All analyzed alleles
numbers in brackets = length of domain in terms of number of nucleotides in cDNA
