Abstract G458(P) Table 1
Distribution of diagnostic mutations
Diagnosis
Number
Investigated
%
Diagnostic mutations
%
CAKUT Isolated
24
4
17
0
0
CAKUT plus extra-renal
16
7
44
1
6
Non-CAKUT Isolated
7
5
71
2
29
Non-CAKUT plus extra-renal
19
15
79
11
58
Unknown
2
2
100
0
0
Total
68
33
14