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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