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. Author manuscript; available in PMC: 2010 May 18.
Published in final edited form as: Nat Genet. 2009 Apr 19;41(5):535–543. doi: 10.1038/ng.367

Table 2.

Summary of all variants

X specific
 Pseudoautosomal
Nonrecurrent Recurrent Total Nonrecurrent Recurrent Total Grand total
Nonsense substitutions 18 2 20 1 1 2 22
Missense substitutions 531 409 940 22 21 43 983
Silent substitutions 328 428 756 21 22 43 799
In-frame ins/dels 12 14 26 26
Out-of-frame ins/dels 13 1 14 1 1 15
Splice 12 1 13 13
Total 914 855 1,769 44 45 89 1,858

Read-through variants have been included with frameshifting insertions/deletions.