1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y 0 1 2 3 4 5 6 7 8 0 1 2 3 4 5 6 7 8 0 1 2 3 4 5 6 0 1 2 3 4 5 6 0 1 2 3 4 5 6 0 1 2 3 4 5 0 1 2 3 4 5 0 1 2 3 4 0 1 2 3 4 0 1 2 3 4 0 1 2 3 4 0 1 2 3 4 0 1 2 3 0 1 2 3 0 1 2 3 0 1 2 0 1 2 0 1 2 0 1 2 0 1 2 0 1 0 1 0 1 2 3 4 5 0 1 KISS1R:c.815T>C PROKR2:c.254G>A PROKR2:c.518T>G PROKR2:c.533G>C PROKR2:c.629A>G PROKR2:c.802C>T PROKR2:c.868C>T PROKR2:c.969G>A FGFR1:c.2233C>T FGFR1:c.2059G>A FGFR1:c.320C>A FGFR1:c.709G>A FGFR1:c.2165C>A FGFR1:c.2172C>G FGFR1:c.2038C>T FGFR1:c.142G>A FGFR1:c.734T>C FGFR1:c.748C>T FGFR1:c.1028C>T FGFR1:c.1097C>T FGFR1:c.2164C>T FGFR1:c.2383G>A FGFR1:c.1864C>T CHD7:c.4015C>T CHD7:c.5316G>A CHD7:c.6322G>A LHCGR:c.736C>T LHCGR:c.846T>T CCDC141:c.2170C>T CCDC141:c.1943T>G CCDC141:c.4496C>G CCDC141:c.433G>A CCDC141:c.4391A>G FGF17:c.530G>A FGF17:c.323T>C IL17RD:c.392A>C IL17RD:c.916C>T IL17RD:c.1136A>G IL17RD:c.1403C>T IL17RD:c.1730C>A DUSP6:c.229T>A DUSP6:c.545C>T DUSP6:c.566A>G DUSP6:c.1037C>T KISS1R:c.305T>C SPRY4:c.722C>A SPRY4:c.299C>T SPRY4:c.46G>A SPRY4:c.313G>A SPRY4:c.530A>G SPRY4:c.626G>A SPRY4:c.841G>A SPRY4:c.910G>A FLRT3:c.290A>G FLRT3:c.431G>T FLRT3:c.205C>A FLRT3:c.1016A>G PROKR2:c.472G>A PROKR2:c.779C>T PROKR2:c.991G>A PROKR2:c.1000G>A CYP21A2:c.518T>A FEZF1:c.832C>T PSMC3IP:c.489C>G KISS1R:c.244+5G>A KISS1R:c.285C>G KISS1R:c.309C>A KISS1R:c.345C>G KISS1R:c.443T>C KISS1R:c.527C>G KISS1R:c.860C>A KISS1R:c.937T>C KISS1R:c.991C>T KISS1R:c.113G>C KISS1R:c.137C>A KISS1R:c.374C>T KISS1R:c.592C>G HHAT:c.449G>T FGFR1:c.1025T>C NSMF:c.1025T>C HS6ST1:c.1114C>T POLR3A:c.490+1G>A POLR3A:c.3337-5T>A POLR3A:c.3337-11T>C POLR3A:c.2005C>T POLR3A:c.18C>T POLR3A:c.760C>T POLR3A:c.1572+1G>A POLR3A:c.3G>T POLR3A:c.3243-2A>G POLR3A:c.2617-1G>A WDR11:c.1303G>A WDR11:c.1343G>A WDR11:c.2070T>A WDR11:c.1183C>T WDR11:c.3450T>G HSD3B2:c.35G>A CYP11B1:c.264G>A CYP11B1:c.346T>G CYP11B1:c.476C>T CYP11B1:c.494C>A CYP11B1:c.1096C>T CYP11B1:c.1201A>G CYP21A2:c.500T>C CYP21A2:c.698G>A CYP21A2:c.871G>A CYP21A2:c.875G>A CYP21A2:c.958G>A CYP21A2:c.1022G>C CYP21A2:c.1061G>A CYP21A2:c.1222C>T CYP21A2:c.1270G>A CYP21A2:c.1277G>A CYP21A2:c.689T>C CYP21A2:c.1105C>T TUBB3:c.1228G>A FGFR1:c.936G>A CHD4:c.3380G>A CHD4:c.3518G>T CHD4:c.3443G>T CHD4:c.3008G>A AXL:c.148C>T AXL:c.605C>G AXL:c.1082A>C CYP17A1:c.1306C>T CYP17A1:c.1418T>C PROK2:c.-4C>A PROK2:c.94G>C PROK2:c.217C>T SEMA3A:c.197C>T SEMA3A:c.458A>G SEMA3A:c.1198A>G SEMA3A:c.1303G>A SEMA3A:c.2062A>G SEMA3A:c.2189G>A SEMA3A:c.2198G>A CYP21A2:c.320T>G CYP21A2:c.425T>C CYP21A2:c.185A>T PROKR2:c.238C>T PROKR2:c.420C>G SOX2:c.529C>T SOX2:c.389G>C SOX2:c.571G>A TRIM32:c.388C>T RAB3GAP2:c.3154G>T CYP11B1:c.235T>A CYP11B1:c.2623C>T POR:c.1370G>A POR:c.731+1G>A POR:c.1475T>A POR:c.859G>C POR:c.1706G>A POR:c.1822G>T GNRH1:c.91C>T GNRH1:c.217C>T GNRH1:c.172A>T GNRH1:c.52G>A NR5A1:c.877G>A NR5A1:c.3G>A NR5A1:c.386C>T NR5A1:c.368G>C SLC29A3:c.1279G>A SLC29A3:c.1309G>A CHD7:c.2501C>T CHD7:c.164A>G CHD7:c.8635G>A CHD7:c.8639C>T CHD7:c.8842A>G DCAF17:c.1422+5G>T DCAF17:c.1091+6T>G CYP21A2:c.655A>G LHCGR:c.1660C>T TACR3:c.80C>A TACR3:c.623G>A TACR3:c.624G>A TACR3:c.172C>T TACR3:c.53G>A TACR3:c.745A>G TACR3:c.766T>C TACR3:c.885A>C TACR3:c.944A>G TACR3:c.1057C>T TACR3:c.294G>C TACR3:c.1344C>T NR5A1:c.392C>T NR5A1:c.571C>T NR5A1:c.634G>A NR5A1:c.712G>A QRICH2:c.192G>A QRICH2:c.3037C>T LHCGR:c.1573C>T LHCGR:c.1435C>T LHCGR:c.508C>T CFAP70:c.1723-1G>T CFAP70:c.178T>A DNAH17:c.5486G>A DNAH17:c.10784T>C DNAJB13:c.833T>G ARL2BP:c.207+1G>A ADCY10:c.3542A>G AKAP4:c.887G>A CATSPER1:c.148G>A CATSPER2:c.1289C>G PROKR2:c.701G>A CATSPER3:c.193T>C FGFR1:c.20C>A FGFR1:c.1664-9T>G FGFR1:c.1305_1306A>A CATSPER4:c.247A>G CATSPER4:c.157T>C STAG3:c.1759G>G PLA2G6:c.187A>G DNAL1:c.449A>G SUN5:c.824C>T SUN5:c.1066C>T SUN5:c.485T>A SUN5:c.781G>A SUN5:c.216G>A SUN5:c.425+1G>A SUN5:c.1043A>T SUN5:c.851C>G SUN5:c.340G>A CFAP44:c.4963C>T TTC21A:c.716+1G>A TTC21A:c.341A>G TTC21A:c.2329C>T DNAH1:c.8626-1G>A DNAH1:c.3860T>G LRRC6:c.220G>C LRRC6:c.574C>T LRRC6:c.576A>A LRRC6:c.436G>C HESX1:c.124C>T HESX1:c.223G>T HESX1:c.18G>A FANCM:c.5101C>T FANCM:c.5791C>T FANCM:c.1491A>A FANCM:c.4387-10A>G SLC26A8:c.260G>A SLC26A8:c.2434G>A SLC26A8:c.2860C>T PMFBP1:c.2404C>T PMFBP1:c.2725C>T PMFBP1:c.1462C>T POLA1:c.236T>G POLA1:c.4142C>T POLA1:c.507+1G>A POLA1:c.328G>A FSIP2:c.2282A>A HESX1:c.219C>T ARMC2:c.1023+1G>A ARMC2:c.2279T>A ARMC2:c.421C>T FTHL17:c.442_443G>T MAP3K1:c.1846G>A MAP3K1:c.566T>C MAP3K1:c.566T>G SRD5A2:c.16C>T SRD5A2:c.59T>C SRD5A2:c.547G>A SRD5A2:c.635C>G CFAP43:c.2802T>A CFAP43:c.4132C>T CFAP43:c.253C>T CFAP43:c.386C>A CFAP43:c.3541-2A>C CFAP43:c.2658G>A CFAP43:c.2680C>T CFAP43:c.3352C>T CFAP43:c.1302T>T CFAP43:c.1040T>C CFAP43:c.2141+5G>A DNAH9:c.12367G>A DNAH9:c.10193G>T DNAH9:c.8708-2A>G DNAH9:c.5641A>G DNAH9:c.8894G>A CYP11A1:c.422T>G CYP11A1:c.1244T>A CFAP44:c.1890+1G>A CFAP44:c.3175C>T CFAP44:c.2818G>G CFAP44:c.1387G>T MEI1:c.3307C>T CBX2:c.293C>T NPAS2:c.1363C>G TEX11:c.450C>T TEX11:c.511A>G TEX11:c.2092G>A NR5A1:c.340C>T NR5A1:c.517G>A NR5A1:c.598C>T NR5A1:c.628C>T NR5A1:c.632A>G NR5A1:c.800G>A NR5A1:c.808G>A CFAP69:c.860+1G>A CFAP69:c.763C>T SRY:c.380A>T MNS1:c.607C>T KISS1R:c.667T>C KISS1R:c.890G>T DHH:c.371G>A WT1:c.4C>T HS6ST1:c.1124G>A FANCA:c.3913C>T TEX14:c.254C>A WT1:c.1096C>T WT1:c.1180C>T CYB5A:c.131A>T ATRX:c.4635C>T ATRX:c.2302A>G ATRX:c.3583A>T ATRX:c.3967A>G SPO11:c.556G>A DHH:c.485T>C POLR3B:c.1568T>A POLR3B:c.1508C>A POLR3B:c.2686A>T POLR3A:c.2554A>G POLR3A:c.4006C>T POLR3A:c.2324A>T POLR3A:c.1674C>G POLR3A:c.2015G>A POLR3A:c.1114G>A POLR3A:c.3013C>T TRIM37:c.493-2A>G NR0B1:c.1210C>T SUN5:c.829C>T SUN5:c.1067G>A AR:c.173A>T FGFR1:c.1453G>A FGFR1:c.1042G>A FGFR1:c.1780C>T FGFR1:c.2009A>C FGFR1:c.1286T>A FGFR1:c.2062G>T FGFR1:c.2135T>C DNAH1:c.11788-1G>A DNAH1:c.5094+1G>A DNAH1:c.4115C>T DNAH1:c.6822C>G DNAH1:c.9850G>A DNAH1:c.6212T>G DNAH1:c.3836A>G DNAH1:c.7377+1G>C DNAH1:c.3108G>A DNAH1:c.5864G>A DNAH1:c.2610G>A DNAH1:c.12287G>T DNAH1:c.12397C>T DNAH1:c.7066C>T DNAH1:c.5766-2A>G DNAH1:c.10630G>T MEIOB:c.191A>T DNAH6:c.10413C>A GAS8:c.1172C>T BSCL2:c.757G>T SRD5A2:c.682G>A AR:c.2006G>C POR:c.531T>G POR:c.849G>C POR:c.1360G>A AR:c.2247C>T ZMYND10:c.47T>G ZMYND10:c.116T>C ZMYND10:c.797T>C PLCZ1:c.1193A>C HYDIN:c.922A>T HYDIN:c.3985G>T DNAH11:c.12384C>G ARMC4:c.2780T>G ARMC4:c.2675C>A ARMC4:c.2219G>A ARMC4:c.2014G>T ARMC4:c.1969C>T ARMC4:c.1669G>T ARMC4:c.2495+1G>A SRY:c.385T>A NME8:c.271-27C>T CYP21A2:c.-126C>T CFTR:c.622G>T DNAI1:c.1543G>A DNAH5:c.4361G>A DNAH5:c.8910_8911A>G DNAH5:c.10555G>C DNAH5:c.4360C>T DNAH5:c.7915C>T DNAH5:c.1828C>T DNAAF2:c.23C>A DNAAF3:c.406C>T DNAAF3:c.323T>C DNAI2:c.787C>T RSPH1:c.85G>T RSPH1:c.366-3C>A RSPH1:c.366G>A RSPH1:c.275-2A>C RSPH1:c.308G>A RSPH1:c.727+5G>A PLCZ1:c.360C>G PLCZ1:c.590G>A PLCZ1:c.671T>C PLCZ1:c.698A>T PLCZ1:c.1499C>T CYB5A:c.81G>A ESR2:c.251G>T ESR2:c.1277T>G TSPYL1:c.266G>A TACR3:c.278G>A SPATA16:c.848G>A STAG3:c.1262T>G STAG3:c.1312C>T CFTR:c.349C>T CFTR:c.3472C>T CFTR:c.328G>C CFTR:c.2834C>T CFTR:c.743G>C CFTR:c.1523T>G CFTR:c.1387G>A CFTR:c.350G>A TTC29:c.1107C>G TTC29:c.977+1G>T TTC29:c.176+1G>A TTC29:c.750C>A PLCZ1:c.588C>A PLCZ1:c.1151C>T PLCZ1:c.830T>C PLCZ1:c.1733T>C PLCZ1:c.1344A>T PLCZ1:c.1658G>C NDNF:c.184A>T NDNF:c.1406G>A NDNF:c.602C>G TTC12:c.1614+3A>T TTC12:c.1700T>G HSD3B2:c.320T>A HSD3B2:c.652T>C HSD3B2:c.733G>C HSD3B2:c.911T>C HSD3B2:c.967A>G HSD3B2:c.1063T>C HSD3B2:c.1076T>C ZPBP:c.931C>T CCDC62:c.442C>T RPL10L:c.257A>C RPL10L:c.293G>A RPL10L:c.421A>C RPL10L:c.391A>G DNAH6:c.6582C>A DNAH6:c.11258G>A DNAH6:c.10025G>A DNAH6:c.2823T>T DNAH6:c.5549A>G DZIP1:c.188G>A DZIP1:c.690T>G DZIP1:c.505G>G FAM47C:c.2942C>T SPAG17:c.4343G>A SPAG17:c.3776G>A TDRD6:c.1259A>G TDRD6:c.1496C>T AKAP9:c.5251C>T CCDC146:c.748C>T CEP131:c.13C>T ASZ1:c.614G>T DAZL:c.571-1G>C DDX25:c.275C>T DNAAF2:c.1891G>A DNAH1:c.3460A>C DNAH1:c.5375A>G DNAH1:c.7387C>T DNAH5:c.12704A>G ELMO1:c.620C>T ESR2:c.602G>T HIPK4:c.935C>T HYDIN:c.15217A>G MAGEE2:c.1484G>A MAGEE2:c.700C>T MMRN1:c.3454G>A ODF4:c.501G>A PGK2:c.1112T>C PIWIL2:c.745C>T ROS1:c.5000C>T SLC26A8:c.1619C>G SPATA3:c.373C>A SPIDR:c.878-2A>C STRA8:c.733-2A>G SYCP2:c.866A>C TEX11:c.2287G>C TTC21A:c.1997A>G TTLL9:c.749-1G>C USP9Y:c.1317+3A>G XRCC2:c.643C>T ZSWIM7:c.201+1G>T CCDC40:c.1315C>T CCDC40:c.1810C>T CCDC40:c.960C>T CCDC40:c.2440C>T CCDC40:c.1366C>T FOXF2:c.97G>G FOXF2:c.*25G>A CST1:c.229-1G>C DMRTA2:c.1414G>A DNAH7:c.1754+1G>A MOSPD2:c.642C>A NLGN4Y:c.1050G>A PPP1R36:c.1094T>C RIOK2:c.1556G>A STAG2:c.1711C>G TCEANC:c.841C>T ZNF541:c.313G>C CEP250:c.2509G>A CEP250:c.1826C>T CEP250:c.1364A>G TDP1:c.1459C>T TDP1:c.910C>T ACTL7A:c.224A>C SOHLH1:c.529C>A SOHLH1:c.346-1G>A POLR2C:c.545T>C TEX11:c.2575G>A TEX11:c.313C>T TEX11:c.427A>C FSIP2:c.18448G>A FSIP2:c.5480A>T FSIP2:c.9056T>C FSIP2:c.10823T>C FSIP2:c.17798C>T MEIOB:c.683-1G>A AR:c.2122C>G AR:c.2630T>G AR:c.2641C>A AR:c.2318+1G>T HSD17B3:c.239G>A ARMC2:c.182C>G NLRP7:c.2162G>A NLRP7:c.2204A>C PLCZ1:c.2T>C PLCZ1:c.136-1G>C PLCZ1:c.1358G>A PLCZ1:c.1274A>G CYP17A1:c.1085G>A KCNU1:c.1295+3A>C XRCC2:c.41T>C DNAH1:c.41T>C HFM1:c.3490C>T HFM1:c.1335G>A DNAH17:c.6308C>T AKAP3:c.44G>A CYP21A2:c.280C>G CYP21A2:c.1069C>T CYP21A2:c.710T>A CYP21A2:c.713T>A CYP21A2:c.719T>A M1AP:c.1074+2T>C CT55:c.465T>A MSH5:c.1459G>T MSH5:c.830C>T MSH5:c.1914C>A CYP21A2:c.655C>G CYP21A2:c.1994C>T CYP21A2:c.999T>A ARMC12:c.632G>A ARMC12:c.686G>A CEP164:c.1735C>T DMC1:c.106G>A ACR:c.167G>A SAMD9:c.2948T>G CFAP57:c.2872C>T CFAP57:c.2737C>T CYP21A2:c.902C>A ACTL7A:c.1084G>A DNAH1:c.7076G>T CYP17A1:c.1243+6T>G KATNAL2:c.169C>T SRD5A2:c.586G>A FBXO43:c.1747C>T SEMA3G:c.497G>T WEE2:c.1459C>T WEE2:c.585G>C DRC1:c.238C>T DPY19L2:c.431T>A DPY19L2:c.869G>A SLC26A8:c.2191G>A ARMC12:c.635T>C MEI1:c.1585T>A MEI1:c.186G>C CYP17A1:c.970-1G>A WEE2:c.759-2A>G DNAH8:c.9427C>T DNAH8:c.12721G>A DNAH8:c.6689A>G CFAP58:c.2092C>T CFAP58:c.1696C>T CFAP58:c.2274C>A M1AP:c.797G>A M1AP:c.949G>A M1AP:c.148T>C M1AP:c.1289T>C M1AP:c.1166C>T CFAP74:c.652C>T DNAH17:c.6857C>T DNAH2:c.12720G>T BRWD1:c.5573A>T ACTL9:c.1138G>T ACTL9:c.1209C>G DNAH10:c.7601C>T DNAH10:c.5663G>A DNAH10:c.11887C>T DNAH1:c.4670C>T DNAH1:c.2912G>A PNLDC1:c.250C>T PNLDC1:c.776T>C PNLDC1:c.607-2A>T SUN5:c.88C>T SUN5:c.675C>A IFT74:c.256G>A FSIP2:c.17323C>T DNAH7:c.5587G>A DNAH7:c.6492G>A DNAH7:c.9611G>A DNAH7:c.10601A>G SPATC1L:c.994G>T USP26:c.2396A>G ACTRT1:c.662A>G DNAAF1:c.3G>A DNAAF1:c.124+1G>C ACTL7A:c.733G>A CFAP58:c.1883A>G CFAP58:c.2020G>T CFAP58:c.1855C>T SRY:c.280C>G AR:c.1715A>G AR:c.2668G>A AR:c.271C>T LHCGR:c.422T>C CEP70:c.269A>T DNAH2:c.5507A>G DNAH2:c.9291G>T DNAH2:c.4774G>A DNAH2:c.5771G>C DNAH2:c.11635C>T PHF6:c.413C>G PTCH1:c.3574C>A PTCH1:c.324A>G FGFR1:c.1996T>G FGFR1:c.1614C>G SOX11:c.347A>G SCLT1:c.1218G>A SCLT1:c.1613A>G WEE2:c.946C>T CYP17A1:c.985_987T>A FGFR1:c.809G>T FGFR1:c.823T>A FGFR1:c.830G>T FGFR1:c.1022G>C FGFR1:c.1538T>A FGFR1:c.1622A>C FGFR1:c.1698G>C FGFR1:c.2045A>G FGFR1:c.2189A>G FGFR1:c.407C>G FGFR1:c.622-1G>C HYDIN:c.9507C>G HYDIN:c.14081G>A HYDIN:c.6316+1G>A CYP21A2:c.651+2T>G CYP21A2:c.1081C>T CYP21A2:c.1423C>T AR:c.2667C>T AR:c.2566C>T AR:c.2507T>G LHCGR:c.1345G>A KISS1R:c.815T>C PADI6:c.1618G>A FSHR:c.1510C>T FSHR:c.44G>A SMC1B:c.3530A>T REC8:c.461A>G REC8:c.899G>T LHX8:c.974C>T NOBOX:c.271G>T NOBOX:c.349G>A NOBOX:c.1112A>C NOBOX:c.1856C>T FOXL2:c.13T>A PROKR2:c.254G>A PROKR2:c.518T>G PROKR2:c.533G>C PROKR2:c.629A>G PROKR2:c.802C>T PROKR2:c.868C>T PROKR2:c.969G>A FGFR1:c.2233C>T FGFR1:c.2059G>A FGFR1:c.320C>A FGFR1:c.709G>A FGFR1:c.2165C>A FGFR1:c.2172C>G FGFR1:c.2038C>T FGFR1:c.142G>A FGFR1:c.734T>C FGFR1:c.748C>T FGFR1:c.1028C>T FGFR1:c.1097C>T FGFR1:c.2164C>T FGFR1:c.2383G>A SOHLH1:c.521C>T SOHLH1:c.652C>A SOHLH1:c.916C>A C3:c.1835C>T FIGLA:c.122C>T BMP15:c.13A>C BMP15:c.443T>C GALT:c.1018G>T GDF9:c.307C>T GDF9:c.1360C>T GDF9:c.248C>G MCM8:c.89A>C MCM8:c.1330A>G MCM8:c.925C>T LHCGR:c.1199A>G GALT:c.776G>A MCM9:c.294C>T MCM9:c.220C>T NOBOX:c.1078C>T PADI6:c.519G>C PATL2:c.478C>T PATL2:c.1108G>A PATL2:c.784C>T PATL2:c.558T>A PATL2:c.953T>C PATL2:c.839G>A PATL2:c.649T>A PATL2:c.566T>G PATL2:c.1224+2T>C PATL2:c.1127G>A PATL2:c.1225-2A>G PATL2:c.1282G>T PATL2:c.1300C>T KISS1:c.345C>G FGFR1:c.1864C>T TRIM37:c.493-2A>G CHD7:c.4015C>T CHD7:c.5316G>A CHD7:c.6322G>A PANX1:c.1174C>T PANX1:c.1036A>G PANX1:c.1040G>C TG:c.2610G>T IGSF10:c.2237C>G IGSF10:c.346A>G LHCGR:c.736C>T LHCGR:c.846T>T TUBB8:c.209C>T TUBB8:c.990G>A TUBB8:c.10A>C TUBB8:c.1057G>A TUBB8:c.613G>A TUBB8:c.5G>T TUBB8:c.580G>A TUBB8:c.1245G>A TUBB8:c.35G>A MRPS22:c.404G>A CCDC141:c.2170C>T CCDC141:c.1943T>G CCDC141:c.4496C>G CCDC141:c.433G>A CCDC141:c.4391A>G FGF17:c.530G>A FGF17:c.323T>C IL17RD:c.392A>C IL17RD:c.916C>T IL17RD:c.1136A>G IL17RD:c.1403C>T IL17RD:c.1730C>A WEE2:c.1136-2A>G WEE2:c.585G>C WEE2:c.1228C>T DUSP6:c.229T>A DUSP6:c.545C>T DUSP6:c.566A>G DUSP6:c.1037C>T KISS1R:c.305T>C SPRY4:c.722C>A SPRY4:c.299C>T SPRY4:c.46G>A SPRY4:c.313G>A SPRY4:c.530A>G SPRY4:c.626G>A SPRY4:c.841G>A SPRY4:c.910G>A FLRT3:c.290A>G FLRT3:c.431G>T FLRT3:c.205C>A FLRT3:c.1016A>G BMPR1B:c.816C>G BMPR1B:c.761G>A PROKR2:c.472G>A PROKR2:c.779C>T PROKR2:c.991G>A PROKR2:c.1000G>A GREM1:c.506G>C CYP21A2:c.518T>A NOTCH2:c.5411C>T NOTCH2:c.5433G>C MCM9:c.911A>G FEZF1:c.832C>T STAG3:c.1657G>A MCM8:c.446C>G MCM9:c.394C>T MCM9:c.1732+2T>C NOBOX:c.331G>A NOBOX:c.349C>T ZP1:c.247T>C ZP1:c.1413G>A SOHLH1:c.27C>G ZP2:c.1599G>T ZP2:c.1696T>C FSHR:c.1253T>G ZP3:c.400G>A WEE2:c.1473A>A CAV1:c.142G>C CAV1:c.45C>G NUP107:c.1339G>A ATG7:c.1209T>A FSHR:c.1222G>T ATG9A:c.2272C>T KISS1R:c.244+5G>A KISS1R:c.285C>G KISS1R:c.309C>A KISS1R:c.345C>G KISS1R:c.443T>C KISS1R:c.527C>G KISS1R:c.860C>A KISS1R:c.937T>C KISS1R:c.991C>T KISS1R:c.113G>C KISS1R:c.137C>A KISS1R:c.374C>T KISS1R:c.592C>G KISS1R:c.953T>C ESR2:c.941A>G FGFR1:c.1409G>T FGF8:c.566G>A FGF8:c.646C>G PADI6:c.866C>T PADI6:c.1895C>T HS6ST1:c.1114C>T POLR3A:c.490+1G>A POLR3A:c.3337-5T>A POLR3A:c.3337-11T>C POLR3A:c.2005C>T POLR3A:c.18C>T POLR3A:c.760C>T POLR3A:c.1572+1G>A POLR3A:c.3G>T POLR3A:c.3243-2A>G POLR3A:c.2617-1G>A WNT4:c.697G>A WDR11:c.1303G>A WDR11:c.1343G>A WDR11:c.2070T>A WDR11:c.1183C>T WDR11:c.3450T>G GDF9:c.15C>G GDF9:c.118T>G GDF9:c.133A>G GDF9:c.1025A>T GDF9:c.1275C>A GDF9:c.169G>T GDF9:c.447C>T GDF9:c.546G>A GDF9:c.436C>T GDF9:c.1283G>C BMP15:c.1070G>A BMP15:c.242A>G BMP15:c.538G>A BMP15:c.581T>C BMP15:c.595G>A HSD3B2:c.35G>A KHDRBS1:c.460A>G KHDRBS1:c.263C>T FSHR:c.1723C>T FOXO3:c.71C>A FOXO3:c.140C>T FOXO3:c.184G>A FOXO3:c.1652C>T CYP11B1:c.264G>A CYP11B1:c.346T>G CYP11B1:c.476C>T CYP11B1:c.494C>A CYP11B1:c.1096C>T CYP11B1:c.1201A>G CYP21A2:c.500T>C CYP21A2:c.698G>A CYP21A2:c.871G>A CYP21A2:c.875G>A CYP21A2:c.958G>A CYP21A2:c.1022G>C CYP21A2:c.1061G>A CYP21A2:c.1222C>T CYP21A2:c.1270G>A CYP21A2:c.1277G>A CYP21A2:c.689T>C CYP21A2:c.1105C>T TUBB3:c.1228G>A TUBB8:c.535G>A BMP15:c.-9C>G PGRMC1:c.556C>T PGRMC1:c.533C>T FGFR1:c.936G>A FSHR:c.1043C>G SPIDR:c.839G>A FGFR1:c.1072C>T CHD4:c.3380G>A CHD4:c.3518G>T CHD4:c.3443G>T CHD4:c.3008G>A PRLR:c.635A>G FSHR:c.1255G>A FSHR:c.566C>T AXL:c.148C>T AXL:c.605C>G AXL:c.1082A>C CYP17A1:c.81C>A CYP17A1:c.1306C>T CYP17A1:c.1418T>C CYP17A1:c.374G>A CYP17A1:c.1247G>A CYP19A1:c.1303C>T CYP19A1:c.1310G>A PROK2:c.-4C>A PROK2:c.94G>C PROK2:c.217C>T SEMA3A:c.197C>T SEMA3A:c.458A>G SEMA3A:c.1198A>G SEMA3A:c.1303G>A SEMA3A:c.2062A>G SEMA3A:c.2189G>A SEMA3A:c.2198G>A ESR1:c.1125G>T CYP21A2:c.320T>G CYP21A2:c.425T>C CYP21A2:c.185A>T PROKR2:c.238C>T PROKR2:c.420C>G SOX2:c.529C>T SOX2:c.389G>C SOX2:c.571G>A TRIM32:c.388C>T RAB3GAP2:c.3154G>T CYP11B1:c.235T>A CYP11B1:c.2623C>T POR:c.1370G>A POR:c.731+1G>A POR:c.1475T>A POR:c.859G>C POR:c.1706G>A POR:c.1822G>T CYP21A2:c.364A>C GNRH1:c.91C>T GNRH1:c.217C>T GNRH1:c.172A>T GNRH1:c.52G>A NR5A1:c.877G>A NR5A1:c.3G>A NR5A1:c.386C>T NR5A1:c.368G>C CYP21A2:c.841G>T CYP21A2:c.89C>T CYP21A2:c.1357C>T CYP21A2:c.1303C>T CYP21A2:c.515T>A CYP21A2:c.707T>A CYP21A2:c.710T>A CYP21A2:c.952C>T CYP21A2:c.1066C>T CYP21A2:c.1148G>A CYP21A2:c.57G>A CYP21A2:c.1123G>A CYP21A2:c.1445G>C SLC29A3:c.1279G>A SLC29A3:c.1309G>A CHD7:c.2501C>T CHD7:c.164A>G CHD7:c.8635G>A CHD7:c.8639C>T CHD7:c.8842A>G DCAF17:c.1422+5G>T DCAF17:c.1091+6T>G WNT4:c.35T>C CYP21A2:c.655A>G LHCGR:c.1660C>T GNRHR:c.941T>A TACR3:c.80C>A TACR3:c.623G>A TACR3:c.624G>A TACR3:c.172C>T TACR3:c.53G>A TACR3:c.745A>G TACR3:c.766T>C TACR3:c.885A>C TACR3:c.944A>G TACR3:c.1057C>T TACR3:c.294G>C TACR3:c.1344C>T POLR3A:c.2554A>G POLR3A:c.4006C>T POLR3A:c.2324A>T POLR3A:c.1674C>G POLR3A:c.2015G>A POLR3A:c.1114G>A POLR3A:c.3013C>T FGFR1:c.1453G>A FGFR1:c.1042G>A FGFR1:c.1780C>T FGFR1:c.2009A>C FGFR1:c.1286T>A FGFR1:c.2062G>T FGFR1:c.2135T>C POR:c.531T>G POR:c.849G>C POR:c.1360G>A WEE2:c.1576T>G WEE2:c.991C>A WEE2:c.864G>C WEE2:c.1A>G WEE2:c.1261G>A WNT9B:c.28G>T TACR3:c.278G>A NOBOX:c.1064G>A NOBOX:c.1079G>A ZP1:c.1510C>T ZP1:c.1014+1G>A ZP1:c.123C>A ZP1:c.1663C>T ZP1:c.1573-2A>G LHCGR:c.1129A>G NDNF:c.184A>T NDNF:c.1406G>A NDNF:c.602C>G POR:c.1648C>T BMPR1A:c.1325G>A HSD3B2:c.320T>A HSD3B2:c.652T>C HSD3B2:c.733G>C HSD3B2:c.911T>C HSD3B2:c.967A>G HSD3B2:c.1063T>C HSD3B2:c.1076T>C EIF2B2:c.512C>T EIF2B2:c.547C>T EIF2B2:c.638A>G EIF2B5:c.338G>A EIF2B5:c.583C>T HFM1:c.1686-1G>C HFM1:c.2651T>G HFM1:c.2206G>A SYCE1:c.613C>T LARS2:c.1565C>A LARS2:c.1886C>T HARS2:c.598C>G HARS2:c.1102G>T HSD17B4:c.650A>G HSD17B4:c.1704T>A CLPP:c.433A>C CLPP:c.440G>C TGFBR3:c.1370A>G POU5F1:c.37C>A CITED2:c.604C>A NANOS3:c.358G>A EIF4ENIF1:c.1286C>G AIRE:c.769C>T AIRE:c.1214C>N NOG:c.142G>A TRIP13:c.77A>G TRIP13:c.518G>A TRIP13:c.907G>A TRIP13:c.592A>G TRIP13:c.739G>A ZP2:c.1925G>A DEFB119:c.142T>C DEFB119:c.165C>A DEFB119:c.167G>C DEFB119:c.206A>G DEFB119:c.218A>G TUBB8:c.527C>G TUBB8:c.124C>G TUBB8:c.628A>C HSF2BP:c.500C>T TUBB8:c.1286C>T TUBB8:c.82C>T TUBB8:c.673C>G TUBB8:c.1138C>T TBPL2:c.788+3A>G DICER1:c.2403C>A ZSWIM7:c.173C>G IGF1R:c.2032A>G MOS:c.956G>A WEE2:c.1459C>T TUBB8:c.959G>A MOS:c.596A>T MOS:c.875C>T TUBB8:c.178G>A ZP4:c.1330G>C AARS2:c.446G>A LHCGR:c.1913T>C CHEK1:c.1325G>A GNRHR:c.521A>G NUP107:c.1063C>T LARS2:c.2108T>C CYP17A1:c.1427T>C CYP17A1:c.1306G>A SOX10:c.475C>T PMM2:c.310C>G RAB3GAP1:c.151-5T>G CYP21A2:c.-126C>T CYP21A2:c.-113G>A CYP21A2:c.-110T>C MEN1:c.1813C>T TUBB8:c.173G>A FSHR:c.1313C>T CYP21A2:c.713T>A CYP21A2:c.719T>A CYP21A2:c.844G>T CYP21A2:c.923T>T CYP21A2:c.1451_1452G>C CYP21A2:c.955C>T CYP21A2:c.1069C>T CDC20:c.964C>T CDC20:c.965G>A CDC20:c.330+1G>A CDC20:c.1155G>C TSC2:c.2701C>T TSC2:c.2756A>G TSC2:c.4703C>G TSC2:c.5266G>A CYP17A1:c.1118A>T NLRP5:c.1919T>G LHX8:c.412C>T LHX8:c.282C>A PNPLA6:c.3388C>T CPE:c.405C>A MOS:c.416T>C MOS:c.737G>A MOS:c.960C>A TBX6:c.511C>T ZP1:c.769C>T ZP1:c.1127G>A ZP1:c.325C>T ZP1:c.119G>T FSHR:c.1798C>A FGFR1:c.1081G>A TUBB8:c.817C>G ZP2:c.1421T>C MMACHC:c.482G>A TP63:c.1927C>T BBS5:c.143-1G>A TUBB8:c.1041C>A TCF12:c.390+1G>T TCF12:c.1188+1G>A TCF12:c.1453C>T TCF12:c.1103C>G TCF12:c.812C>G AMHR2:c.24G>A AMHR2:c.1510C>T AMHR2:c.233-1G>A AMHR2:c.71G>A AMHR2:c.1319A>G BTG4:c.1A>G BTG4:c.166G>A CDC20:c.1316T>G CDC20:c.544C>T BUB1B:c.273A>T BUB1B:c.1509T>A ZP1:c.1112+1G>T TUBB8:c.1130T>C TUBB8:c.260C>T TUBB8:c.1172G>A TUBB8:c.608A>G TUBB8:c.1103T>C TUBB8:c.400C>T TUBB8:c.353A>G TUBB8:c.716G>C TUBB8:c.662C>T TUBB8:c.1139G>A TUBB8:c.1163T>C TUBB8:c.236G>A TUBB8:c.293G>A TUBB8:c.148T>C TUBB8:c.743C>T TUBB8:c.893A>G TUBB8:c.940G>T TUBB8:c.1187A>G TUBB8:c.728C>G TUBB8:c.497C>T TUBB8:c.12C>G TUBB8:c.1164G>A TUBB8:c.845G>C TUBB8:c.49G>A TUBB8:c.728C>T TUBB8:c.1076G>A TUBB8:c.736C>G TUBB8:c.925C>T TUBB8:c.535G>C TUBB8:c.398T>C RAB3GAP2:c.1283C>A LHCGR:c.1936C>T LHCGR:c.384-2A>T SYCP2L:c.999A>G ZP2:c.1856T>A TUBB8:c.1045G>A FGFR1:c.874C>G CDC20:c.631G>A PANX1:c.899G>A CYP11B1:c.1136G>T CYP21A2:c.651+2T>G CYP21A2:c.1081C>T CYP21A2:c.1423C>T CYP21A2:c.113G>A CYP21A2:c.995C>T THSD1:c.617G>A MEI1:c.3452G>A MEI1:c.1196+1G>A C11orf80:c.1501T>C REC114:c.334-1G>A WNT6:c.443T>G WNT6:c.522C>T KIF14:c.1780A>T ECEL1:c.2023G>A MUSK:c.40A>A STIL:c.3370A>G IFT122:c.1636G>A IFT122:c.21G>C IFT122:c.502+5G>A IFT122:c.1118C>T IFT122:c.1658T>G FOXP3:c.1009C>T CHRNA1:c.760C>T NOP14:c.136C>G GUSB:c.307C>T GUSB:c.1586A>G GUSB:c.1144C>T GUSB:c.398G>C GUSB:c.1069C>T NEB:c.21076C>T RYR1:c.14130-2A>G TBX4:c.339T>A TBX4:c.379T>A CEP55:c.256C>T
Description of BioCircos chart above: The circos chart built by the BioCircos plugin (http://bioinfo.ibp.ac.cn/biocircos/index.php) shows the mutation landscape of infertility. In this chart, the outermost circle represents the human chromosomes,
followed by a scatter plot of chromosomally mutations associated with female infertility, chromosomally mutations associated with male infertility, and chromosomally mutations associated with recurrent pregnancy loss.
The value of each dot in the scatter plot represents the score to which the mutation is associated with the disease.