Table 1.
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.