Table 2 Numbers of candidate pathogenic variants of 32 genes for DSD and CHG.
| Â | Set 1a | Set 2a | Set 3a | Set 4a |
|---|---|---|---|---|
Gene | No. Var | No. Var | No. Var | No. Var |
CBX2 | 0 | 2 | 2 | 2 |
DHH | 0 | 0 | 0 | 0 |
RSPO1 | 0 | 0 | 0 | 0 |
TSPYL1 | 0 | 0 | 0 | 0 |
WNT4 | 0 | 1 | 1 | 1 |
CYP11B1 | 0 | 1 | 1 | 1 |
CYP17A1 | 1 | 1 | 5 | 6 |
HSD3B2 | 0 | 1 | 2 | 5 |
STAR | 4 | 4 | 4 | 5 |
CYP21A2 | 0 | 0 | 1 | 2 |
AMH | 0 | 0 | 0 | 5 |
AMHR2 | 0 | 0 | 0 | 3 |
CYP19A1 | 0 | 3 | 3 | 5 |
HSD17B3 | 2 | 8 | 8 | 9 |
LHCGR | 0 | 1 | 1 | 1 |
SRD5A2 | 0 | 0 | 6 | 8 |
AKR1C4 | 0 | 0 | 0 | 0 |
AKR1C2 | 0 | 0 | 0 | 0 |
POR | 3 | 6 | 7 | 10 |
CYP11A1 | 0 | 1 | 1 | 1 |
CYB5A | 0 | 0 | 0 | 0 |
HSD17B4 | 0 | 1 | 1 | 3 |
DHCR7 | 0 | 2 | 3 | 9 |
AR | 0 | 0 | 0 | 3 |
GNRHR | 1 | 3 | 4 | 4 |
GNRH1 | 0 | 0 | 0 | 0 |
TAC3 | 0 | 0 | 0 | 0 |
LEP | 1 | 1 | 1 | 1 |
PROP1 | 1 | 1 | 1 | 1 |
LHX3 | 1 | 1 | 1 | 1 |
FSHR | 0 | 0 | 0 | 1 |
BBS9 | 0 | 4 | 4 | 4 |
