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Table 2 Number of entries by mutation type as compared with HGMD data. Statistical analysis of distinct RBGMdbDB vs. HGMD using χ2 test.

From: RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database

 

All mutations

Distinct mutations

Distinct mutat.

 
 

RBGMdb

%

RBGMdb

%

HGMD

%

χ2 test

Nonsense

395

42.4

93

18.6

5840

12.6

P < 0.0001

Missense

81

8.7

50

10.0

22940

49.6

P < 0.0001

Splicing

194

20.8

111

22.2

4771

10.3

P < 0.0001

Regulatory

7

0.7

5

1.0

626

1.4

P = 0.6267

Small ins/del

255

27.3

241

48.2

12076

26.1

P < 0.0001

Total

932

 

500

 

46253