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. Author manuscript; available in PMC: 2017 Jul 20.
Published in final edited form as: Hum Mutat. 2016 Dec 9;38(2):193–203. doi: 10.1002/humu.23148

Table 1.

RECQ Genetic Variants by Type in RECQMutdB and ESP, 1KGP, and ExAC Data

Gene RECQMutdB (n = 211) ESP, 1KGP, and ExAC (n = 3,581)
1 bp Subs ±1 bp Indel >1 bp Simple Indel >1 bp Complex Indel 1 bp Subs ±1 bp Indel >1 bp Simple Indel >1 bp Complex Indel
WRN 59 12 18 2 723 18 18 0
RECQL4 29 12 15 0 1,133 11 19 0
BLM 38 17 8 1 642 19 23 0
RECQL 326 9 13 0
RECQL5 599 11 17 0
Total (%) 126 (59.8%) 41 (19.4%) 41 (19.4%) 3 (1.4%) 3,423 (95.6%) 68 (1.9%) 90 (2.5%) 0