Table 2

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

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


Valverde et al. BMC Genetics 2005 6:53   doi:10.1186/1471-2156-6-53

Open Data