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. 2015 Jul 24;100(10):E1378–E1385. doi: 10.1210/jc.2015-2262

Table 1.

MAFs of Candidate Mutations for Haplotype Analyses

Samples, n
IGD Patients
MAF From ExAc Browser
Probands, n Family Members, n Screened Probands, n MAF European (Non-Finnish) African Total
GNRHR
    Q106R 32 27 1098 0.016 0.004 0.0005 0.003
    R262Q 12 10 1095 0.006 0.002 0.0003 0.002
    R139H 15 11 1096 0.009 0.0002 0.0 0.0002
TACR3
    W275X 7 3 760 0.004 0.0004 9.614 × 10−5 0.0002
PROKR2
    R85H 3 1 1182 0.002 0.001 0.0003 0.0007
FGFR1
    R250Q 5 1 1222 0.002 ND ND ND
    G687R 4 1 1222 0.001 ND ND ND
HS6ST1
    R382W 5 0 777 0.003 0.0005 0.0006 0.002
KAL1
    R423X 8 2 1188 0.002 ND ND ND
    R424X 6 1 1188 0.003 0 0 1.208 × 10−5
    R457X 3 1 1189 0.002 ND ND ND

Abbreviation: ND, not detected.