ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8882
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.59A>G (p.Asn20Ser) rs7445271 0.99974
NM_002303.6(LEPR):c.370+16G>T rs2186248 0.99964
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_000406.2(GNRHR):c.-224A>G rs2627260 0.97947
NM_025000.4(DCAF17):c.*2340C>T rs888428 0.97908
NM_012431.3(SEMA3E):c.1143+41A>G rs2709930 0.97100
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_017563.5(IL17RD):c.868+29T>C rs2247656 0.85070
NM_017563.5(IL17RD):c.660T>C (p.His220=) rs1545981 0.85069
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_001378457.1(DMXL2):c.-36A>C rs6493514 0.81214
NM_032551.5(KISS1R):c.1091T>A (p.Leu364His) rs350132 0.80022
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_017563.5(IL17RD):c.1531T>C (p.Leu511=) rs2291462 0.78630
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_144773.4(PROKR2):c.585G>C (p.Thr195=) rs3746682 0.73326
NM_178138.6(LHX3):c.79+2007T>C rs2274115 0.71807
NM_018117.12(WDR11):c.2958G>A (p.Leu986=) rs1652727 0.71676
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_017780.4(CHD7):c.*1728T>C rs2280917 0.69116
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_017619.4(RNPC3):c.359+16A>G rs6702220 0.68079
NM_024574.4(NDNF):c.186G>A (p.Lys62=) rs2276959 0.66785
NM_018117.12(WDR11):c.3291+39C>T rs1866516 0.65208
NM_000894.3(LHB):c.285T>C (p.Gly95=) rs1056917 0.65129
NM_017619.4(RNPC3):c.342C>T (p.Gly114=) rs6697444 0.64524
NM_017563.5(IL17RD):c.764C>T (p.Thr255Met) rs6780995 0.63417
NM_001059.3(TACR3):c.*73C>T rs2765 0.63284
NM_000894.3(LHB):c.183+11T>C rs2387588 0.63010
NM_000894.3(LHB):c.183+18del rs140502544 0.62955
NM_000894.3(LHB):c.16-26T>C rs4002462 0.62429
NM_005149.3(TBX19):c.728-45G>A rs4656579 0.61272
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_000216.4(ANOS1):c.1600G>A (p.Val534Ile) rs808119 0.56041
NM_178138.6(LHX3):c.776-90C>T rs7860634 0.55589
NM_000216.4(ANOS1):c.1833C>T (p.Ile611=) rs809446 0.55191
NM_000894.3(LHB):c.132A>C (p.Pro44=) rs1056914 0.55157
NM_006261.5(PROP1):c.109+3G>A rs4072924 0.54780
NM_000894.3(LHB):c.114C>G (p.Val38=) rs6521 0.54755
NM_001382289.1(FSHB):c.228C>T (p.Tyr76=) rs6169 0.53743
NM_012431.3(SEMA3E):c.550+40G>A rs2713145 0.52350
NM_012431.3(SEMA3E):c.998+12A>T rs2245441 0.51207
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=) rs10851500 0.50188
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) rs1137101 0.50085
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro) rs12102203 0.49370
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985 0.49353
NM_012431.3(SEMA3E):c.671-47A>T rs2709941 0.49328
NM_001382289.1(FSHB):c.*476A>G rs506197 0.48898
NM_001382289.1(FSHB):c.*520C>G rs506306 0.48895
NM_001382289.1(FSHB):c.*635A>G rs676349 0.48660
NM_001946.4(DUSP6):c.340G>T (p.Val114Leu) rs2279574 0.48185
NM_002303.6(LEPR):c.-122T>C rs3790435 0.47981
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=) rs2278989 0.47808
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=) rs2278990 0.47740
NM_000894.3(LHB):c.15+9A>G rs2387589 0.47035
NM_024574.4(NDNF):c.939T>C (p.Asp313=) rs3822230 0.46935
NM_001378457.1(DMXL2):c.8077-22C>T rs7165887 0.46698
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=) rs12592889 0.46637
NM_000406.2(GNRHR):c.-1279G>A rs2062301 0.45906
NM_012431.3(SEMA3E):c.276+3966C>G rs2255715 0.45623
NM_017780.4(CHD7):c.*1797C>T rs6985168 0.45413
NM_017780.4(CHD7):c.*1189A>C rs4738834 0.45310
NM_017780.4(CHD7):c.*1444T>G rs4237040 0.45155
NM_000406.2(GNRHR):c.-1144T>C rs2062303 0.44562
NM_000406.2(GNRHR):c.-1497C>T rs13138607 0.43890
NM_000406.2(GNRHR):c.-904A>G rs6552113 0.43869
NM_000406.2(GNRHR):c.-1255T>C rs2062302 0.43801
NM_005149.3(TBX19):c.*21T>A rs3885717 0.43776
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) rs1805096 0.43140
NM_000230.3(LEP):c.*2253C>A rs11761556 0.43092
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) rs7536561 0.40777
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_144773.4(PROKR2):c.465C>T (p.Leu155=) rs3746684 0.40371
NM_000406.3(GNRHR):c.*2166G>A rs7666201 0.39326
NM_000406.3(GNRHR):c.*829T>C rs17635850 0.39304
NM_000406.3(GNRHR):c.*2496G>A rs1038427 0.38965
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000406.3(GNRHR):c.*2663G>T rs1038426 0.37716
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_018117.12(WDR11):c.1899A>T (p.Ala633=) rs7899928 0.37378
NM_018117.12(WDR11):c.2121+31A>G rs7079830 0.37378
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974 0.35335
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_012431.3(SEMA3E):c.337-38T>C rs7806439 0.34425
NM_001059.3(TACR3):c.-103T>C rs3733632 0.34326
NM_015295.3(SMCHD1):c.3425+37C>T rs8094260 0.33927
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_198391.3(FLRT3):c.1257C>T (p.Thr419=) rs6042672 0.31273
NM_000439.5(PCSK1):c.*1041T>A rs17085675 0.31161
NM_000439.5(PCSK1):c.*1530T>C rs2882298 0.30559
NM_006261.5(PROP1):c.-210A>C rs13187293 0.30465
NM_018117.12(WDR11):c.995-43C>T rs2289335 0.29983
NM_018117.12(WDR11):c.834G>A (p.Thr278=) rs10886789 0.29841
NM_002256.4(KISS1):c.242C>G (p.Pro81Arg) rs4889 0.29766
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_015295.3(SMCHD1):c.3277-42_3277-39dup rs10638660 0.28675
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_005149.3(TBX19):c.*251T>C rs1000533 0.26364
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) rs1137100 0.25399
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_006261.5(PROP1):c.*354G>A rs4604209 0.24860
NM_015295.3(SMCHD1):c.5548-43_5548-40del rs35853884 0.24521
NM_025000.4(DCAF17):c.*2795T>C rs17221346 0.24511
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000406.3(GNRHR):c.*583A>G rs35845954 0.23514
NM_000406.3(GNRHR):c.*1891T>G rs12508464 0.23503
NM_000406.3(GNRHR):c.*809C>T rs35683646 0.23471
NM_000406.3(GNRHR):c.*802G>C rs35610027 0.23467
NM_178138.6(LHX3):c.79+1975G>A rs2274116 0.23265
NM_000406.3(GNRHR):c.*2055G>A rs17635749 0.22960
NM_000406.3(GNRHR):c.*1260G>T rs13150734 0.22923
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_018117.12(WDR11):c.2304A>G (p.Ala768=) rs2289337 0.22603
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_178138.6(LHX3):c.454+64C>T rs2274114 0.21362
NM_024574.4(NDNF):c.1567C>T (p.Leu523=) rs34766411 0.21332
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_018117.12(WDR11):c.199-7G>C rs2241846 0.20862
NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser) rs6185 0.20281
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_025000.4(DCAF17):c.*3112C>G rs17221367 0.19832
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.*570G>A rs3795998 0.19821
NM_025000.4(DCAF17):c.*3703A>G rs9789572 0.19820
NM_025000.4(DCAF17):c.*676T>G rs3821084 0.19818
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_025000.4(DCAF17):c.*2425T>A rs12151641 0.19764
NM_024574.4(NDNF):c.435A>G (p.Leu145=) rs3733559 0.19146
NM_015295.3(SMCHD1):c.2338+32A>G rs62084229 0.19102
NM_001378457.1(DMXL2):c.1346-39A>G rs12904173 0.18855
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met) rs17524906 0.18836
NM_001378457.1(DMXL2):c.5051+23G>A rs17524750 0.18767
NM_002256.4(KISS1):c.417del (p.Ter139TrpextTer?) rs71745629 0.18485
NM_032551.5(KISS1R):c.24A>G (p.Gly8=) rs10407968 0.17826
NM_000061.3(BTK):c.776+78G>A rs2855259 0.16810
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_005149.3(TBX19):c.603+11G>T rs12096093 0.14406
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.13634
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_017780.4(CHD7):c.-466A>G rs71513464 0.12438
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) rs4988496 0.12048
NM_144773.4(PROKR2):c.525C>G (p.Ala175=) rs3746683 0.11848
NM_017780.3(CHD7):c.*2104T>A rs16926520 0.11399
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612 0.11028
NM_000823.4(GHRHR):c.598-10T>C rs35609199 0.10863
NM_000230.3(LEP):c.*2205G>A rs41457646 0.10795
NM_018117.12(WDR11):c.3363C>G (p.Val1121=) rs3740307 0.10458
NM_000230.3(LEP):c.*400G>T rs17151922 0.09344
NM_033343.4(LHX4):c.778+14G>T rs3806302 0.09243
NM_000406.2(GNRHR):c.-731C>T rs2630490 0.09029
NM_000406.2(GNRHR):c.-62G>A rs2627261 0.09015
NM_000406.2(GNRHR):c.-1570C>G rs28643407 0.08726
NM_000406.3(GNRHR):c.453C>T (p.Ser151=) rs4986942 0.08705
NM_006261.5(PROP1):c.*123T>C rs2233788 0.08086
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545 0.07602
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) rs4988498 0.07235
NM_006261.5(PROP1):c.109+435G>A rs73346254 0.06917
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_000823.4(GHRHR):c.-45C>T rs2302021 0.06644
NM_000406.3(GNRHR):c.*2441T>C rs2319657 0.06538
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_000823.4(GHRHR):c.*221T>C rs28371563 0.05985
NM_033343.4(LHX4):c.452-5T>C rs2764449 0.05703
NM_178138.6(LHX3):c.251+30G>A rs75290716 0.05544
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_000823.4(GHRHR):c.366+13T>G rs4988499 0.04905
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_000823.4(GHRHR):c.564C>T (p.His188=) rs740336 0.04789
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_001083111.2(GNRH1):c.-2+388T>C rs17790824 0.04306
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_025000.4(DCAF17):c.*2473G>A rs57999878 0.04194
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_000823.4(GHRHR):c.*147A>C rs2586 0.04030
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768 0.03837
NM_017780.4(CHD7):c.*1579A>G rs10100774 0.03830
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_000230.3(LEP):c.*366A>T rs28954118 0.03579
NM_005149.3(TBX19):c.*479G>C rs1003315 0.03197
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_025000.4(DCAF17):c.*350G>A rs3795996 0.03008
NM_000230.3(LEP):c.*1243A>G rs6966536 0.02955
NM_001382289.1(FSHB):c.*948T>G rs78946483 0.02933
NM_000823.4(GHRHR):c.*236C>A rs28371564 0.02852
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) rs2228078 0.02812
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610 0.02589
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_033343.4(LHX4):c.-120C>T rs355625 0.02332
NM_005149.3(TBX19):c.*26C>G rs143627386 0.02303
NM_005149.3(TBX19):c.*1155C>G rs77202012 0.02199
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_006261.5(PROP1):c.*419C>T rs116225539 0.02154
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_000439.5(PCSK1):c.*1333A>T rs6556922 0.02116
NM_025000.4(DCAF17):c.*188T>A rs142315519 0.02083
NM_005149.3(TBX19):c.*469G>A rs16860362 0.01991
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_005149.3(TBX19):c.917-14G>A rs71632355 0.01897
NM_002303.6(LEPR):c.2597+15G>C rs6693573 0.01870
NM_000406.3(GNRHR):c.*2767T>C rs12507392 0.01831
NM_001024613.4(FEZF1):c.801+10A>T rs62476008 0.01777
NM_025000.4(DCAF17):c.*3829G>A rs59827170 0.01646
NM_025000.4(DCAF17):c.*2183C>G rs73976170 0.01636
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) rs6413506 0.01632
NM_001059.3(TACR3):c.873A>G (p.Leu291=) rs35085919 0.01614
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_025000.4(DCAF17):c.*1005A>G rs73976168 0.01517
NM_025000.4(DCAF17):c.*3712A>G rs74780004 0.01515
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_032551.5(KISS1R):c.1155G>A (p.Ala385=) rs3746147 0.01495
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys) rs78861628 0.01447
NM_033163.5(FGF8):c.444+19G>A rs3218234 0.01434
NM_002303.6(LEPR):c.*232G>A rs116819844 0.01407
NM_000894.3(LHB):c.233C>A (p.Thr78Asn) rs116437960 0.01395
NM_005149.3(TBX19):c.*186G>A rs10918869 0.01378
NM_001083111.2(GNRH1):c.183C>T (p.Phe61=) rs6186 0.01376
NM_001059.3(TACR3):c.921A>C (p.Thr307=) rs34550211 0.01359
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys) rs141003457 0.01226
NM_033343.4(LHX4):c.*97T>G rs145063714 0.01162
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_001083111.2(GNRH1):c.-2+5A>C rs78322917 0.01139
NM_021913.5(AXL):c.2037-10A>C rs117941544 0.01124
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881 0.01091
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) rs35667483 0.01078
NM_178138.6(LHX3):c.108G>A (p.Gln36=) rs33998096 0.01071
NM_000439.5(PCSK1):c.*1842G>A rs10515236 0.01069
NM_178138.6(LHX3):c.*780C>T rs4842130 0.01058
NM_002303.6(LEPR):c.2096C>T (p.Thr699Met) rs34499590 0.01048
NM_025000.4(DCAF17):c.*2348G>A rs112519318 0.01011
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_005149.3(TBX19):c.105C>T (p.Asp35=) rs34284181 0.00937
NM_000406.2(GNRHR):c.-541G>A rs140006155 0.00890
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_207111.4(RNF216):c.149C>G (p.Ala50Gly) rs115737075 0.00870
NM_006261.5(PROP1):c.*52G>A rs2233787 0.00869
NM_033343.4(LHX4):c.*286G>C rs80203153 0.00865
NM_018117.12(WDR11):c.2991A>G (p.Thr997=) rs114808011 0.00831
NM_000406.3(GNRHR):c.144C>G (p.Leu48=) rs35400155 0.00800
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_000061.3(BTK):c.531T>C (p.Pro177=) rs148358153 0.00738
NM_000230.3(LEP):c.*2224G>A rs28959472 0.00721
NM_178138.6(LHX3):c.*747C>G rs146752425 0.00714
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_000439.5(PCSK1):c.*597T>C rs115434587 0.00689
NM_033343.4(LHX4):c.*130C>T rs59623342 0.00680
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val) rs138694505 0.00671
NM_000230.3(LEP):c.*2799C>T rs200887574 0.00666
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236 0.00661
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000230.3(LEP):c.*2015C>A rs28959471 0.00615
NM_033343.4(LHX4):c.*445G>T rs57069480 0.00607
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_002256.4(KISS1):c.268C>G (p.His90Asp) rs201073751 0.00578
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_005149.3(TBX19):c.1122C>T (p.His374=) rs34885709 0.00575
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_005149.3(TBX19):c.*544G>A rs144304383 0.00566
NM_017780.4(CHD7):c.*1502G>A rs181017286 0.00566
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00560
NM_006261.5(PROP1):c.-302G>A rs150629697 0.00555
NM_001382289.1(FSHB):c.*1009G>A rs75464895 0.00544
NM_000230.3(LEP):c.*150G>A rs28954115 0.00537
NM_000439.5(PCSK1):c.*1132C>T rs139172738 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_005149.3(TBX19):c.761T>C (p.Val254Ala) rs77425733 0.00523
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile) rs142439525 0.00522
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608 0.00518
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_178138.6(LHX3):c.*825C>A rs3739470 0.00510
NM_000216.4(ANOS1):c.255+4C>T rs141696314 0.00507
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile) rs145610810 0.00504
NM_000406.3(GNRHR):c.*2196G>A rs145112872 0.00495
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_000230.3(LEP):c.*1010C>A rs138289049 0.00481
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_173648.4(CCDC141):c.1521A>C (p.Gln507His) rs114129666 0.00468
NM_000406.3(GNRHR):c.*495T>C rs115861964 0.00467
NM_005149.3(TBX19):c.1053-11dup rs138050448 0.00465
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143 0.00465
NM_033343.4(LHX4):c.63T>C (p.Gly21=) rs75857235 0.00465
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) rs151019928 0.00461
NM_012414.4(RAB3GAP2):c.*2638C>T rs74139286 0.00455
NM_002303.6(LEPR):c.-161C>T rs372078226 0.00451
NM_002303.6(LEPR):c.-20-15A>T rs116571599 0.00451
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601 0.00444
NM_207037.2(TCF12):c.1950C>T (p.Val650=) rs77034126 0.00440
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_025000.4(DCAF17):c.*1521A>G rs77176791 0.00434
NM_001059.3(TACR3):c.-20G>A rs201377092 0.00433
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) rs74942536 0.00430
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_025000.4(DCAF17):c.*677C>A rs115798465 0.00417
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00411
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000406.3(GNRHR):c.*385A>G rs111894416 0.00401
NM_025000.4(DCAF17):c.*1841G>T rs114519296 0.00399
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_001873.4(CPE):c.1422A>G (p.Leu474=) rs112824368 0.00381
NM_001382289.1(FSHB):c.312G>A (p.Lys104=) rs34365964 0.00371
NM_012414.4(RAB3GAP2):c.*2399A>G rs115637988 0.00369
NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn) rs141939661 0.00367
NM_033343.4(LHX4):c.690C>T (p.Ser230=) rs111822893 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_012414.4(RAB3GAP2):c.*1404T>C rs188666578 0.00355
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_000823.4(GHRHR):c.237G>A (p.Pro79=) rs28371558 0.00351
NM_005149.3(TBX19):c.*267A>G rs146307337 0.00347
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_005149.3(TBX19):c.*371C>G rs188457637 0.00318
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_025000.4(DCAF17):c.-204C>T rs147113116 0.00309
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_000306.4(POU1F1):c.143-4A>T rs35893626 0.00305
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr) rs144994507 0.00303
NM_000230.3(LEP):c.*33C>T rs62481073 0.00302
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_002303.6(LEPR):c.36T>C (p.His12=) rs147768538 0.00286
NM_000230.3(LEP):c.*204C>T rs113405088 0.00283
NM_178138.6(LHX3):c.*637T>C rs191713062 0.00280
NM_025000.4(DCAF17):c.*530A>G rs115676571 0.00277
NM_000406.3(GNRHR):c.*2802T>C rs79040488 0.00275
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_000216.4(ANOS1):c.618G>A (p.Ser206=) rs147229253 0.00272
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_000823.4(GHRHR):c.751+12G>A rs187794371 0.00262
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_012414.4(RAB3GAP2):c.*1527G>C rs185153185 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_000823.4(GHRHR):c.*51C>T rs185262577 0.00240
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_017780.4(CHD7):c.*1495C>T rs139790301 0.00238
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile) rs6170 0.00231
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile) rs28371560 0.00225
NM_000406.2(GNRHR):c.-1636T>C rs750872049 0.00223
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000216.4(ANOS1):c.76G>C (p.Gly26Arg) rs778437210 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_000230.3(LEP):c.*2053G>A rs17617757 0.00215
NM_000216.4(ANOS1):c.1283C>T (p.Pro428Leu) rs148736113 0.00214
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_178138.6(LHX3):c.*185T>A rs144976921 0.00202
NM_005149.3(TBX19):c.-21G>A rs187423054 0.00201
NM_000230.3(LEP):c.*2110G>T rs187235717 0.00197
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_178138.6(LHX3):c.*773G>A rs148781569 0.00191
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile) rs78240149 0.00190
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) rs149204675 0.00190
NM_144773.4(PROKR2):c.1005G>A (p.Thr335=) rs150381386 0.00190
NM_000216.4(ANOS1):c.957G>A (p.Glu319=) rs190631963 0.00189
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_002303.6(LEPR):c.*403T>C rs375886561 0.00185
NM_178138.6(LHX3):c.79+1829G>A rs551389075 0.00185
NM_006261.5(PROP1):c.534G>A (p.Gln178=) rs73807328 0.00184
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_033343.4(LHX4):c.*289G>A rs74970014 0.00180
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_025000.4(DCAF17):c.-111G>T rs80336595 0.00176
NM_012414.4(RAB3GAP2):c.*1538T>C rs143472001 0.00175
NM_025000.4(DCAF17):c.*2303G>A rs186143382 0.00175
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_000230.3(LEP):c.*373G>A rs183801334 0.00169
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_025000.4(DCAF17):c.*3022A>G rs75833923 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_001059.3(TACR3):c.579C>T (p.Pro193=) rs62340657 0.00164
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096 0.00164
NM_001382289.1(FSHB):c.*303C>A rs555094841 0.00162
NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe) rs139318648 0.00162
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000 0.00161
NM_000406.3(GNRHR):c.*1301A>G rs190775695 0.00160
NM_001059.3(TACR3):c.1344C>T (p.Ser448=) rs76121575 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp) rs35542850 0.00159
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) rs146655496 0.00159
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183 0.00158
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_000406.2(GNRHR):c.-107C>T rs184491810 0.00156
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) rs372623686 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr) rs143073792 0.00151
NM_000406.3(GNRHR):c.*3011T>C rs561253321 0.00149
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NC_000003.12:g.57200194A>C rs983243 0.00148
NM_000406.3(GNRHR):c.*1892C>A rs183815234 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_000230.3(LEP):c.*300C>T rs191600447 0.00143
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980 0.00143
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_033343.4(LHX4):c.*119T>C rs180725260 0.00142
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_000216.4(ANOS1):c.1642C>T (p.Leu548=) rs77296423 0.00136
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_017780.4(CHD7):c.-230G>C rs886063030 0.00124
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_000230.3(LEP):c.*1014C>G rs151325384 0.00120
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) rs78310959 0.00120
NM_001382289.1(FSHB):c.*898T>C rs143137782 0.00120
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_003865.3(HESX1):c.90C>T (p.Asp30=) rs115448575 0.00117
NM_017780.4(CHD7):c.*1116C>G rs45504193 0.00117
NM_017780.4(CHD7):c.*1143A>G rs45573835 0.00117
NM_012414.4(RAB3GAP2):c.*78G>A rs773904586 0.00116
NM_000216.4(ANOS1):c.1627G>A (p.Val543Ile) rs149299309 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_025000.4(DCAF17):c.*1034G>A rs3731979 0.00114
NM_025000.4(DCAF17):c.*378T>C rs3795997 0.00114
NM_000439.5(PCSK1):c.*2187G>A rs191960713 0.00113
NM_025000.4(DCAF17):c.*2971A>G rs576169953 0.00113
NM_000406.3(GNRHR):c.*2919A>G rs149178613 0.00112
NM_005149.3(TBX19):c.315C>T (p.Asn105=) rs143801899 0.00111
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_017780.4(CHD7):c.*965G>A rs575515698 0.00108
NM_012414.4(RAB3GAP2):c.*391C>T rs180750746 0.00105
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292 0.00104
NM_012414.4(RAB3GAP2):c.*2171A>G rs570021838 0.00103
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00102
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr) rs142729431 0.00101
NM_000823.4(GHRHR):c.1105-14C>G rs13223704 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_000406.3(GNRHR):c.*1654C>T rs184206874 0.00100
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00098
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_025000.4(DCAF17):c.459-19_459-17del rs546878583 0.00095
NM_000230.3(LEP):c.*360G>A rs200748706 0.00094
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_017780.4(CHD7):c.*1123G>A rs77847411 0.00094
NM_000230.3(LEP):c.*2738G>A rs201644572 0.00093
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_178138.6(LHX3):c.*791G>A rs12237402 0.00091
NM_000306.4(POU1F1):c.*141A>T rs552876873 0.00088
NM_000823.4(GHRHR):c.975-6C>A rs117572522 0.00088
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192 0.00088
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499 0.00088
NM_144773.4(PROKR2):c.991G>A (p.Val331Met) rs117106081 0.00088
NM_000230.3(LEP):c.*1260A>G rs144195028 0.00087
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_000230.3(LEP):c.*1640C>T rs201065449 0.00086
NM_144773.4(PROKR2):c.1110C>T (p.Asn370=) rs76049287 0.00086
NM_000216.4(ANOS1):c.890G>A (p.Arg297Gln) rs141239804 0.00085
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_025000.4(DCAF17):c.*1370C>T rs565065854 0.00085
NM_144773.4(PROKR2):c.1122C>A (p.Thr374=) rs76469093 0.00085
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00081
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991 0.00080
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00077
NM_025000.4(DCAF17):c.*2976A>G rs78561668 0.00077
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_144773.4(PROKR2):c.375C>T (p.His125=) rs148596437 0.00076
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_000216.4(ANOS1):c.214G>A (p.Gly72Ser) rs186630563 0.00073
NM_001126128.2(PROK2):c.-4C>A rs552496938 0.00073
NM_178138.6(LHX3):c.705C>G (p.Arg235=) rs138595537 0.00073
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_002303.6(LEPR):c.594G>A (p.Val198=) rs140347630 0.00072
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00072
NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg) rs148454792 0.00071
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) rs150936702 0.00071
NM_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) rs142097318 0.00068
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_017780.4(CHD7):c.*251T>C rs529121143 0.00068
NM_178138.6(LHX3):c.*790C>T rs572411652 0.00068
NM_005149.3(TBX19):c.*1234C>T rs149712948 0.00066
NM_000439.5(PCSK1):c.*262del rs886060885 0.00065
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_000216.4(ANOS1):c.264G>A (p.Glu88=) rs41304727 0.00064
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_005149.3(TBX19):c.*781A>G rs575063780 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_000216.4(ANOS1):c.911A>G (p.Asn304Ser) rs140812865 0.00061
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_025000.4(DCAF17):c.*1692G>C rs903874983 0.00059
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr) rs149650431 0.00059
NM_012414.4(RAB3GAP2):c.1632-16A>G rs191799009 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_000230.3(LEP):c.*1428C>A rs76601079 0.00057
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) rs189927028 0.00057
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys) rs201346228 0.00057
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) rs145701892 0.00056
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) rs72729259 0.00054
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_144773.4(PROKR2):c.390C>T (p.Ser130=) rs144778137 0.00054
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_017780.4(CHD7):c.*96C>A rs193154029 0.00052
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_025000.4(DCAF17):c.537+16C>T rs142462938 0.00052
NM_000216.4(ANOS1):c.1381C>T (p.Arg461Trp) rs144709908 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_025000.4(DCAF17):c.*1965A>G rs569108215 0.00051
NM_000406.3(GNRHR):c.576T>C (p.Val192=) rs147822774 0.00050
NM_003865.2(HESX1):c.-230T>A rs549564119 0.00050
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.2295C>T (p.Ser765=) rs143994202 0.00049
NM_000230.3(LEP):c.*1678C>T rs188857005 0.00048
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) rs142361839 0.00048
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_001382289.1(FSHB):c.*1337G>A rs540432482 0.00047
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) rs111859466 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu) rs144670595 0.00046
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) rs572249702 0.00045
NM_000061.3(BTK):c.1698G>A (p.Pro566=) rs3208812 0.00044
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_025000.4(DCAF17):c.*2312G>A rs777311799 0.00043
NM_025000.4(DCAF17):c.*2591A>G rs748228250 0.00043
NM_000406.2(GNRHR):c.-1563T>C rs560053680 0.00042
NM_002303.6(LEPR):c.2674-5935A>C rs551017633 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000439.5(PCSK1):c.-21G>A rs188670849 0.00041
NM_001059.3(TACR3):c.*138G>A rs200193311 0.00041
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304 0.00041
NM_021728.4(OTX2):c.*779G>A rs138197536 0.00041
NM_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_025000.4(DCAF17):c.*2429A>G rs778932293 0.00041
NM_000230.3(LEP):c.*2503C>T rs200431904 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_000439.5(PCSK1):c.*1307A>G rs554558654 0.00039
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) rs144292455 0.00039
NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His) rs142735693 0.00039
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 0.00039
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00038
NM_000439.5(PCSK1):c.*1733G>A rs189919167 0.00038
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_032551.5(KISS1R):c.18G>A (p.Thr6=) rs755924784 0.00038
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_001083111.2(GNRH1):c.-2+194C>A rs534899690 0.00037
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_000061.3(BTK):c.707G>A (p.Arg236Gln) rs147036606 0.00036
NM_000406.3(GNRHR):c.-8G>A rs199976279 0.00036
NM_002303.6(LEPR):c.-51T>G rs150026062 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_005149.3(TBX19):c.*1235G>A rs112010969 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_002303.6(LEPR):c.*153A>G rs147380894 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_006261.5(PROP1):c.*468C>T rs886060473 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_000061.3(BTK):c.1701A>G (p.Glu567=) rs146681416 0.00032
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) rs200536932 0.00032
NM_000061.3(BTK):c.*342T>G rs781937023 0.00031
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn) rs149014761 0.00031
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_005149.3(TBX19):c.*258A>C rs771131598 0.00031
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
NM_000894.3(LHB):c.364G>A (p.Gly122Ser) rs5030774 0.00030
NM_002303.6(LEPR):c.*453C>T rs191470560 0.00030
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) rs185505138 0.00030
NM_025000.4(DCAF17):c.325G>A (p.Asp109Asn) rs373997425 0.00030
NM_033343.4(LHX4):c.90C>T (p.Cys30=) rs147491286 0.00030
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000439.5(PCSK1):c.-140C>T rs142567487 0.00029
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_005149.3(TBX19):c.*273A>G rs755252476 0.00029
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841 0.00029
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_017780.4(CHD7):c.3989+9C>T rs373206209 0.00029
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) rs188679907 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_025000.4(DCAF17):c.913A>G (p.Ile305Val) rs114419034 0.00029
NM_000061.3(BTK):c.-105G>T rs1034801451 0.00028
NM_000061.3(BTK):c.625G>T (p.Ala209Ser) rs138352992 0.00028
NM_000216.4(ANOS1):c.463A>G (p.Asn155Asp) rs143079588 0.00028
NM_002303.6(LEPR):c.*99A>G rs529659801 0.00028
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys) rs147871230 0.00028
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) rs544018373 0.00027
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) rs145558922 0.00027
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_000230.3(LEP):c.*1185C>T rs200556203 0.00026
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_033343.4(LHX4):c.37G>A (p.Val13Ile) rs146664099 0.00026
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) rs139599160 0.00025
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) rs117802902 0.00025
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_025000.4(DCAF17):c.*1747C>A rs747014569 0.00025
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) rs138615339 0.00024
NM_000823.4(GHRHR):c.660G>A (p.Leu220=) rs145466944 0.00024
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_006261.5(PROP1):c.110-8G>A rs377698903 0.00024
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr) rs758060734 0.00024
NM_017780.4(CHD7):c.*527C>T rs1011990961 0.00024
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099 0.00024
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035 0.00024
NM_021728.4(OTX2):c.*667A>C rs184421963 0.00024
NM_023110.3(FGFR1):c.*2391A>G rs185729862 0.00024
NM_025000.4(DCAF17):c.*15T>C rs146258833 0.00024
NM_025000.4(DCAF17):c.209A>G (p.Asn70Ser) rs200380164 0.00024
NM_178138.6(LHX3):c.441C>T (p.Thr147=) rs200521449 0.00024
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) rs138751215 0.00023
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) rs202243828 0.00023
NM_002303.6(LEPR):c.611A>G (p.Lys204Arg) rs146442768 0.00023
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) rs138177581 0.00023
NM_012414.4(RAB3GAP2):c.*2176G>C rs370566079 0.00023
NM_012414.4(RAB3GAP2):c.-87A>G rs576041163 0.00023
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_021728.4(OTX2):c.*647A>G rs886050557 0.00023
NM_023110.3(FGFR1):c.-263G>C rs974672416 0.00023
NM_025000.4(DCAF17):c.*3880G>T rs754667938 0.00023
NM_000306.4(POU1F1):c.27T>C (p.Ala9=) rs35560664 0.00022
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) rs142840946 0.00022
NM_001083111.2(GNRH1):c.177A>G (p.Gln59=) rs368837931 0.00022
NM_003865.3(HESX1):c.255G>A (p.Ser85=) rs146029258 0.00022
NM_012414.4(RAB3GAP2):c.*2518A>G rs528100310 0.00022
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_000230.3(LEP):c.*2245C>G rs201052331 0.00021
NM_000230.3(LEP):c.53A>G (p.Tyr18Cys) rs148407750 0.00021
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000439.5(PCSK1):c.*1231C>T rs886060881 0.00021
NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln) rs151303573 0.00021
NM_003865.3(HESX1):c.460-3T>C rs112703580 0.00021
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355 0.00021
NM_017780.4(CHD7):c.-249C>G rs886063029 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_023110.3(FGFR1):c.*1711G>A rs567642271 0.00021
NM_023110.3(FGFR1):c.-270G>A rs578030717 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_025000.4(DCAF17):c.869C>G (p.Ser290Cys) rs375662120 0.00021
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3337-6C>T rs137894782 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) rs318240760 0.00020
NM_178138.6(LHX3):c.*309C>T rs1040969252 0.00020
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828 0.00019
NM_000230.3(LEP):c.*1124G>A rs3750034 0.00019
NM_000823.4(GHRHR):c.272C>T (p.Ala91Val) rs144372265 0.00019
NM_001946.4(DUSP6):c.1037C>T (p.Thr346Met) rs146089505 0.00019
NM_005149.3(TBX19):c.*1204T>C rs548141259 0.00019
NM_005149.3(TBX19):c.*1251C>T rs377117067 0.00019
NM_005149.3(TBX19):c.603+15G>T rs886045513 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_017780.4(CHD7):c.1473C>T (p.Ile491=) rs182294889 0.00019
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile) rs552582918 0.00019
NM_025000.4(DCAF17):c.*926G>T rs62183509 0.00019
NM_033343.4(LHX4):c.-121T>G rs547988090 0.00019
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009 0.00019
NM_178138.6(LHX3):c.*582G>A rs879304888 0.00019
NM_000061.3(BTK):c.1140A>G (p.Gln380=) rs782184877 0.00018
NM_000406.3(GNRHR):c.*1347A>G rs765394872 0.00018
NM_000439.5(PCSK1):c.*2611A>G rs746472388 0.00018
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) rs146545244 0.00018
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_001946.4(DUSP6):c.566A>G (p.Asn189Ser) rs143946794 0.00018
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) rs140207251 0.00018
NM_178138.6(LHX3):c.*9C>T rs369623778 0.00018
NM_178138.6(LHX3):c.534C>T (p.Thr178=) rs564712080 0.00018
NM_001059.3(TACR3):c.-10A>T rs200498239 0.00017
NM_005149.3(TBX19):c.597T>C (p.Asn199=) rs143377172 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_025000.4(DCAF17):c.*1124G>A rs779974974 0.00017
NM_033343.4(LHX4):c.-134G>C rs565557892 0.00017
NM_000406.3(GNRHR):c.*2588C>T rs377155481 0.00016
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) rs140520429 0.00016
NM_000894.3(LHB):c.286G>A (p.Val96Met) rs149003040 0.00016
NM_005149.3(TBX19):c.*809A>G rs962423588 0.00016
NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg) rs199644548 0.00016
NM_005149.3(TBX19):c.728-7A>G rs752195406 0.00016
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_017780.4(CHD7):c.843A>G (p.Gln281=) rs764411605 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_025000.4(DCAF17):c.*2113C>A rs139529937 0.00016
NM_025000.4(DCAF17):c.*2943C>T rs965835850 0.00016
NM_033343.4(LHX4):c.248+13G>A rs375232367 0.00016
NM_033343.4(LHX4):c.849A>C (p.Gly283=) rs373879455 0.00016
NM_178138.6(LHX3):c.79+1935C>G rs769912904 0.00016
NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr) rs368339876 0.00015
NM_000216.4(ANOS1):c.72G>A (p.Ala24=) rs764457546 0.00015
NM_000216.4(ANOS1):c.906C>T (p.Thr302=) rs138608216 0.00015
NM_000406.3(GNRHR):c.*912C>T rs963694391 0.00015
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) rs142833343 0.00015
NM_001059.3(TACR3):c.1290G>A (p.Thr430=) rs138661164 0.00015
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_021728.4(OTX2):c.*316G>A rs142727455 0.00015
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_000061.3(BTK):c.1239T>C (p.Phe413=) rs150990075 0.00014
NM_000230.3(LEP):c.*2800G>A rs1378129983 0.00014
NM_000406.2(GNRHR):c.-1239T>A rs879487074 0.00014
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) rs145592525 0.00014
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_001024613.4(FEZF1):c.263C>T (p.Ala88Val) rs893917390 0.00014
NM_001083111.2(GNRH1):c.-2+59G>T rs962938386 0.00014
NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg) rs104893767 0.00014
NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile) rs143319015 0.00014
NM_003865.3(HESX1):c.220G>A (p.Val74Met) rs148422263 0.00014
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287 0.00014
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys) rs553630404 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_017780.4(CHD7):c.4645-9T>C rs766575601 0.00014
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_021728.4(OTX2):c.*764G>A rs775857186 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_025000.4(DCAF17):c.1266+14C>T rs185407539 0.00014
NM_025000.4(DCAF17):c.916G>A (p.Val306Ile) rs150187836 0.00014
NM_144773.4(PROKR2):c.376G>A (p.Val126Met) rs200048973 0.00014
NM_178138.6(LHX3):c.*437G>A rs1013764402 0.00014
NM_000306.4(POU1F1):c.*245A>G rs771316195 0.00013
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala) rs200873915 0.00013
NM_000406.3(GNRHR):c.*193A>G rs529064600 0.00013
NM_000439.5(PCSK1):c.*1443C>T rs182581645 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_002303.6(LEPR):c.2370A>C (p.Ser790=) rs13306528 0.00013
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751 0.00013
NM_006261.5(PROP1):c.234A>G (p.Pro78=) rs533923552 0.00013
NM_006261.5(PROP1):c.303T>C (p.Ser101=) rs114584451 0.00013
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.1856C>T (p.Thr619Ile) rs146728785 0.00013
NM_012414.4(RAB3GAP2):c.2212+15A>T rs375627012 0.00013
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) rs1446997240 0.00013
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720 0.00013
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) rs370543242 0.00013
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_017780.4(CHD7):c.*1120C>T rs572548208 0.00013
NM_017780.4(CHD7):c.1423A>G (p.Met475Val) rs773039925 0.00013
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) rs201046385 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_033163.5(FGF8):c.686C>T (p.Thr229Met) rs137852664 0.00013
NM_178138.6(LHX3):c.*456G>A rs150382420 0.00013
NM_000061.3(BTK):c.1566+18T>C rs367698178 0.00012
NM_000061.3(BTK):c.390C>T (p.Asn130=) rs150917517 0.00012
NM_000216.4(ANOS1):c.1921G>A (p.Gly641Arg) rs375767556 0.00012
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) rs182531866 0.00012
NM_000439.5(PCSK1):c.*287A>G rs373041583 0.00012
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_003865.3(HESX1):c.-6G>A rs368171529 0.00012
NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=) rs144263040 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00012
NM_025000.4(DCAF17):c.138A>G (p.Lys46=) rs191203387 0.00012
NM_033343.4(LHX4):c.*28C>A rs75471724 0.00012
NM_144773.4(PROKR2):c.156C>T (p.Ala52=) rs775513724 0.00012
NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp) rs768401425 0.00012
NM_178138.6(LHX3):c.*638G>T rs374699388 0.00012
NM_178138.6(LHX3):c.860C>T (p.Ser287Leu) rs748322395 0.00012
NM_000061.3(BTK):c.*390G>A rs782012349 0.00011
NM_000061.3(BTK):c.1104A>G (p.Gly368=) rs781940603 0.00011
NM_000230.3(LEP):c.*781G>C rs70940808 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) rs367560743 0.00011
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) rs200969251 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_000515.5(GH1):c.127G>A (p.Ala43Thr) rs140787052 0.00011
NM_000823.4(GHRHR):c.6C>T (p.Asp2=) rs148704543 0.00011
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_005149.3(TBX19):c.*1026T>C rs945775793 0.00011
NM_005149.3(TBX19):c.724C>T (p.His242Tyr) rs202072731 0.00011
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) rs140016178 0.00011
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn) rs201699077 0.00011
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146 0.00011
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393 0.00011
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_017780.4(CHD7):c.4146C>T (p.Ile1382=) rs372318215 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser) rs368224943 0.00011
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455 0.00011
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_025000.4(DCAF17):c.*2380A>G rs553179661 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser) rs142455173 0.00010
NM_000230.3(LEP):c.165G>A (p.Gln55=) rs138908051 0.00010
NM_000306.4(POU1F1):c.427C>A (p.Arg143=) rs142046308 0.00010
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000825.3(GNRH1):c.-1316C>T rs912543990 0.00010
NM_001382289.1(FSHB):c.*212T>C rs879553055 0.00010
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) rs369390421 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly) rs754158945 0.00010
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507 0.00010
NM_017780.4(CHD7):c.*1577C>G rs886063052 0.00010
NM_017780.4(CHD7):c.*1788C>T rs527801100 0.00010
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_021728.4(OTX2):c.-119-65G>T rs886050561 0.00010
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00010
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00010
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) rs375216188 0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_000306.4(POU1F1):c.90T>A (p.Ser30Arg) rs543096490 0.00009
NM_000406.3(GNRHR):c.*1193C>T rs886059561 0.00009
NM_000439.5(PCSK1):c.*471C>G rs886060884 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009
NM_000823.4(GHRHR):c.*29A>G rs759106817 0.00009
NM_002303.6(LEPR):c.*251G>T rs1032178127 0.00009
NM_002303.6(LEPR):c.*287G>C rs974484944 0.00009
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala) rs375934938 0.00009
NM_005149.3(TBX19):c.*954C>T rs140853969 0.00009
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009 0.00009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=) rs760166848 0.00009
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523 0.00009
NM_017780.4(CHD7):c.5895-67A>G rs528151295 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093 0.00009
NM_017780.4(CHD7):c.698G>A (p.Gly233Asp) rs778249500 0.00009
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_025000.4(DCAF17):c.*126A>T rs139116642 0.00009
NM_025000.4(DCAF17):c.1315G>A (p.Val439Ile) rs147068576 0.00009
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp) rs397514699 0.00009
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) rs372952844 0.00009
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_178138.6(LHX3):c.739G>A (p.Glu247Lys) rs767763626 0.00009
NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser) rs769008665 0.00009
NM_000216.4(ANOS1):c.1782G>A (p.Thr594=) rs375373285 0.00008
NM_000216.4(ANOS1):c.98G>C (p.Arg33Pro) rs746075352 0.00008
NM_000230.3(LEP):c.*1318G>C rs200129463 0.00008
NM_000230.3(LEP):c.*1825T>C rs199792491 0.00008
NM_000306.4(POU1F1):c.439+4T>C rs199746697 0.00008
NM_000406.3(GNRHR):c.*806G>C rs113838900 0.00008
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) rs377182945 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_006261.5(PROP1):c.81G>A (p.Pro27=) rs749312622 0.00008
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.2940T>A (p.Leu980=) rs373793377 0.00008
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) rs61729605 0.00008
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178 0.00008
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
NM_017780.4(CHD7):c.*644A>T rs779551569 0.00008
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile) rs199953550 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr) rs368086966 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.2613+5G>A rs202143667 0.00008
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) rs764496155 0.00008
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) rs375969680 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) rs200747690 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) rs370271088 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_025000.4(DCAF17):c.*2747C>T rs886055116 0.00008
NM_025000.4(DCAF17):c.1083T>C (p.Asn361=) rs193214847 0.00008
NM_025000.4(DCAF17):c.1519T>C (p.Cys507Arg) rs147685213 0.00008
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) rs150095386 0.00008
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg) rs104894702 0.00008
NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln) rs376142095 0.00008
NM_178138.6(LHX3):c.*55G>A rs543364659 0.00008
NM_178138.6(LHX3):c.281A>T (p.Gln94Leu) rs758634719 0.00008
NM_178138.6(LHX3):c.309G>T (p.Val103=) rs766945737 0.00008
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_000406.2(GNRHR):c.-1702A>G rs560099007 0.00007
NM_000406.3(GNRHR):c.666C>T (p.Ile222=) rs377457276 0.00007
NM_000823.4(GHRHR):c.57+1G>A rs2302022 0.00007
NM_002303.6(LEPR):c.-162C>A rs368145929 0.00007
NM_005149.3(TBX19):c.*654T>G rs886045518 0.00007
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_012431.3(SEMA3E):c.671-10G>A rs372840645 0.00007
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682 0.00007
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val) rs370304926 0.00007
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu) rs367557471 0.00007
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090 0.00007
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600 0.00007
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265 0.00007
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 0.00007
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719 0.00007
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_025000.4(DCAF17):c.1266+6G>A rs557741620 0.00007
NM_025000.4(DCAF17):c.1422+14G>A rs368707741 0.00007
NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln) rs371230892 0.00007
NM_033343.4(LHX4):c.146A>G (p.His49Arg) rs368995644 0.00007
NM_033343.4(LHX4):c.774C>T (p.Phe258=) rs565803862 0.00007
NM_178138.6(LHX3):c.776-15C>A rs376405589 0.00007
NM_000061.3(BTK):c.1590C>T (p.Asn530=) rs375450527 0.00006
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) rs141590686 0.00006
NM_000230.3(LEP):c.*1886T>G rs201604408 0.00006
NM_000230.3(LEP):c.*653A>C rs201341056 0.00006
NM_000406.3(GNRHR):c.*1948C>T rs886059558 0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) rs104893843 0.00006
NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys) rs776834867 0.00006
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg) rs148499544 0.00006
NM_000439.5(PCSK1):c.*2634G>A rs1050484297 0.00006
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) rs201893637 0.00006
NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile) rs746565662 0.00006
NM_000823.4(GHRHR):c.93C>T (p.Ile31=) rs143429066 0.00006
NM_001059.3(TACR3):c.918G>A (p.Met306Ile) rs201088165 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) rs780534740 0.00006
NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe) rs200775601 0.00006
NM_005149.3(TBX19):c.603+13G>T rs762160668 0.00006
NM_005149.3(TBX19):c.959C>T (p.Ser320Leu) rs772038103 0.00006
NM_005599.3(NHLH2):c.91G>A (p.Val31Met) rs774831438 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) rs562096116 0.00006
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) rs371029254 0.00006
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) rs373965521 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014 0.00006
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) rs140160399 0.00006
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_017514.5(PLXNA3):c.4075C>T (p.Arg1359Cys) rs150035406 0.00006
NM_017780.4(CHD7):c.*622G>A rs886063047 0.00006
NM_017780.4(CHD7):c.-25T>A rs780813907 0.00006
NM_017780.4(CHD7):c.-327C>G rs531113504 0.00006
NM_017780.4(CHD7):c.1050T>C (p.Ala350=) rs777423713 0.00006
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424 0.00006
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239 0.00006
NM_017780.4(CHD7):c.2946T>C (p.Asn982=) rs752803020 0.00006
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.3523-12G>A rs373865383 0.00006
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.4850+6T>A rs745527754 0.00006
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=) rs757952334 0.00006
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.522G>A (p.Pro174=) rs577112542 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 0.00006
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00006
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) rs904822604 0.00006
NM_017780.4(CHD7):c.6831C>T (p.Ser2277=) rs572350789 0.00006
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg) rs777303307 0.00006
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_021728.4(OTX2):c.*966A>G rs57390094 0.00006
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_025000.4(DCAF17):c.*1531T>C rs537066061 0.00006
NM_025000.4(DCAF17):c.1287T>C (p.Tyr429=) rs145955312 0.00006
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_033343.4(LHX4):c.398T>C (p.Met133Thr) rs371899398 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_144773.4(PROKR2):c.261C>T (p.Leu87=) rs764463888 0.00006
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp) rs142008002 0.00006
NM_178138.6(LHX3):c.251+9C>T rs569254423 0.00006
NM_178138.6(LHX3):c.79+1904C>T rs1021046718 0.00006
NM_178138.6(LHX3):c.87G>A (p.Pro29=) rs183980824 0.00006
NM_178138.6(LHX3):c.919C>A (p.Arg307=) rs145867977 0.00006
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr) rs201187873 0.00006
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000061.3(BTK):c.1750+10T>C rs374131821 0.00005
NM_000216.4(ANOS1):c.1419C>T (p.Thr473=) rs781745609 0.00005
NM_000216.4(ANOS1):c.1420G>A (p.Gly474Arg) rs755569301 0.00005
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) rs1057519373 0.00005
NM_000406.3(GNRHR):c.*1275G>A rs763058779 0.00005
NM_000406.3(GNRHR):c.*1797A>G rs989136388 0.00005
NM_000406.3(GNRHR):c.648C>T (p.Phe216=) rs144451862 0.00005
NM_000439.5(PCSK1):c.*2582A>G rs1470735979 0.00005
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) rs765217767 0.00005
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) rs1026383684 0.00005
NM_000439.5(PCSK1):c.624C>T (p.His208=) rs111380006 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_000894.3(LHB):c.167G>A (p.Gly56Asp) rs121912517 0.00005
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_003865.3(HESX1):c.*48G>A rs372550682 0.00005
NM_003865.3(HESX1):c.33C>T (p.Leu11=) rs775835444 0.00005
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) rs368463146 0.00005
NM_005149.3(TBX19):c.*746A>G rs553418600 0.00005
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) rs147003438 0.00005
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_006261.5(PROP1):c.*37C>T rs749918250 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.624C>T (p.Cys208=) rs761651134 0.00005
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00005
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=) rs372594666 0.00005
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711 0.00005
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) rs558904762 0.00005
NM_012431.3(SEMA3E):c.814-11G>T rs781715218 0.00005
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717 0.00005
NM_012431.3(SEMA3E):c.998+10T>C rs769133097 0.00005
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu) rs373211059 0.00005
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser) rs769003426 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470 0.00005
NM_017780.4(CHD7):c.3202-3T>C rs1060503183 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 0.00005
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=) rs546733576 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832 0.00005
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) rs372078650 0.00005
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) rs368934543 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) rs200792215 0.00005
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=) rs539868738 0.00005
NM_021728.4(OTX2):c.840T>C (p.Ala280=) rs201396096 0.00005
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) rs746602135 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_025000.3(DCAF17):c.*3946G>A rs776729717 0.00005
NM_025000.4(DCAF17):c.-232C>T rs1007006126 0.00005
NM_025000.4(DCAF17):c.61T>G (p.Phe21Val) rs907053017 0.00005
NM_178138.6(LHX3):c.*161C>A rs886063701 0.00005
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn) rs782813365 0.00004
NM_000061.3(BTK):c.573G>A (p.Thr191=) rs146707427 0.00004
NM_000061.3(BTK):c.894+3A>G rs781949555 0.00004
NM_000216.4(ANOS1):c.1932G>A (p.Pro644=) rs199652310 0.00004
NM_000216.4(ANOS1):c.255+5G>A rs773138384 0.00004
NM_000216.4(ANOS1):c.723C>A (p.Ala241=) rs756066919 0.00004
NM_000216.4(ANOS1):c.823A>G (p.Thr275Ala) rs753666778 0.00004
NM_000406.3(GNRHR):c.*2248T>C rs576475427 0.00004
NM_000406.3(GNRHR):c.*3076T>C rs886059554 0.00004
NM_000439.5(PCSK1):c.*170A>T rs950364201 0.00004
NM_000439.5(PCSK1):c.*2019A>G rs558370034 0.00004
NM_000439.5(PCSK1):c.*2288A>G rs886060874 0.00004
NM_000439.5(PCSK1):c.*438C>A rs750185441 0.00004
NM_000439.5(PCSK1):c.1884+13C>G rs369199804 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) rs200508601 0.00004
NM_000823.4(GHRHR):c.914G>A (p.Arg305His) rs200472991 0.00004
NM_001059.3(TACR3):c.*87T>C rs199959009 0.00004
NM_001083111.2(GNRH1):c.-1-110A>G rs886062837 0.00004
NM_001083111.2(GNRH1):c.237+8A>C rs751932727 0.00004
NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys) rs776491850 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) rs376728796 0.00004
NM_001382289.1(FSHB):c.*841C>A rs969083152 0.00004
NM_002303.6(LEPR):c.-120C>T rs189950527 0.00004
NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) rs200240836 0.00004
NM_002303.6(LEPR):c.1635A>G (p.Ala545=) rs199507516 0.00004
NM_002303.6(LEPR):c.345A>G (p.Val115=) rs773805917 0.00004
NM_003865.3(HESX1):c.350A>C (p.Gln117Pro) rs765353265 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004186.5(SEMA3F):c.2171C>T (p.Thr724Met) rs768027884 0.00004
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) rs149338352 0.00004
NM_005149.3(TBX19):c.310G>A (p.Val104Ile) rs762183325 0.00004
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile) rs553661856 0.00004
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) rs318240753 0.00004
NM_006261.5(PROP1):c.-160C>T rs1025842722 0.00004
NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) rs764154376 0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_012414.4(RAB3GAP2):c.*104T>C rs1041418234 0.00004
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.1407G>A (p.Ala469=) rs375443204 0.00004
NM_012414.4(RAB3GAP2):c.2955G>A (p.Met985Ile) rs754509783 0.00004
NM_012414.4(RAB3GAP2):c.2962G>A (p.Asp988Asn) rs369645487 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.3336+10G>T rs771074307 0.00004
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820 0.00004
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067 0.00004
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) rs546414937 0.00004
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690 0.00004
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) rs373711827 0.00004
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) rs370540865 0.00004
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) rs776317078 0.00004
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=) rs767115234 0.00004
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913 0.00004
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) rs143423970 0.00004
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097 0.00004
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) rs145267516 0.00004
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly) rs763295904 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 0.00004
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter) rs1332137733 0.00004
NM_017780.4(CHD7):c.*1644A>G rs886063053 0.00004
NM_017780.4(CHD7):c.*659T>C rs886063048 0.00004
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501 0.00004
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) rs373112189 0.00004
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842 0.00004
NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys) rs200024753 0.00004
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) rs753687437 0.00004
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00004
NM_017780.4(CHD7):c.2498+12G>T rs557099951 0.00004
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.294C>T (p.Leu98=) rs372513999 0.00004
NM_017780.4(CHD7):c.2958-16C>A rs772885661 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_017780.4(CHD7):c.4533+9C>T rs1047944999 0.00004
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn) rs767513261 0.00004
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu) rs1201043974 0.00004
NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln) rs768497646 0.00004
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927 0.00004
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) rs745837768 0.00004
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00004
NM_017780.4(CHD7):c.5051-14G>T rs766512334 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.5196G>A (p.Lys1732=) rs755703816 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5405-18C>T rs199981784 0.00004
NM_017780.4(CHD7):c.5405-8C>T rs755505152 0.00004
NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=) rs1021645395 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 0.00004
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969 0.00004
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567 0.00004
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met) rs758409717 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys) rs918223900 0.00004
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn) rs772379262 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.6775+13C>T rs775198282 0.00004
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638 0.00004
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00004
NM_017780.4(CHD7):c.7164+3G>A rs1181000692 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln) rs563360548 0.00004
NM_017780.4(CHD7):c.7308T>C (p.Asn2436=) rs375586969 0.00004
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7680C>T (p.Pro2560=) rs761548538 0.00004
NM_017780.4(CHD7):c.7831-3C>T rs148884686 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 0.00004
NM_017780.4(CHD7):c.8355C>T (p.Ala2785=) rs370131873 0.00004
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly) rs774242976 0.00004
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939 0.00004
NM_017780.4(CHD7):c.8595G>A (p.Ser2865=) rs757002335 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg) rs912988587 0.00004
NM_017780.4(CHD7):c.8874C>T (p.Ala2958=) rs377755006 0.00004
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649 0.00004
NM_021728.4(OTX2):c.406A>G (p.Ser136Gly) rs770291855 0.00004
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met) rs752601407 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00004
NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp) rs758823379 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_025000.4(DCAF17):c.*2292G>A rs373833929 0.00004
NM_025000.4(DCAF17):c.735C>G (p.Phe245Leu) rs773360559 0.00004
NM_025000.4(DCAF17):c.981+10del rs760680285 0.00004
NM_033343.4(LHX4):c.*154A>G rs747210761 0.00004
NM_033343.4(LHX4):c.223G>A (p.Val75Ile) rs749318884 0.00004
NM_144773.4(PROKR2):c.308C>T (p.Ala103Val) rs775634673 0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_144773.4(PROKR2):c.803G>A (p.Arg268His) rs781065670 0.00004
NM_144773.4(PROKR2):c.819G>A (p.Thr273=) rs755527948 0.00004
NM_178138.6(LHX3):c.*357G>A rs886063700 0.00004
NM_178138.6(LHX3):c.*517C>T rs369945393 0.00004
NM_178138.6(LHX3):c.*554C>T rs886063697 0.00004
NM_178138.6(LHX3):c.1155C>T (p.Pro385=) rs377653669 0.00004
NM_178138.6(LHX3):c.79+1862A>G rs886063705 0.00004
NM_178138.6(LHX3):c.79+1888G>A rs1188545118 0.00004
NM_178138.6(LHX3):c.93C>T (p.Cys31=) rs558712702 0.00004
NM_178138.6(LHX3):c.966C>T (p.Ala322=) rs551180434 0.00004
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe) rs782457670 0.00003
NM_000230.3(LEP):c.*1549T>C rs201701012 0.00003
NM_000230.3(LEP):c.212C>A (p.Thr71Asn) rs886061973 0.00003
NM_000306.4(POU1F1):c.456T>C (p.Asn152=) rs886058914 0.00003
NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro) rs104893756 0.00003
NM_000406.2(GNRHR):c.-980G>A rs886059576 0.00003
NM_000406.3(GNRHR):c.*696A>T rs1422742508 0.00003
NM_000406.3(GNRHR):c.743-9A>G rs886059567 0.00003
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) rs369176613 0.00003
NM_000439.5(PCSK1):c.*1401C>T rs886060880 0.00003
NM_000439.5(PCSK1):c.*1571A>G rs886060878 0.00003
NM_000439.5(PCSK1):c.*88G>C rs886060886 0.00003
NM_000439.5(PCSK1):c.*905T>C rs886060883 0.00003
NM_000439.5(PCSK1):c.*974A>G rs1039266884 0.00003
NM_000439.5(PCSK1):c.1196+10A>G rs755372795 0.00003
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) rs769203665 0.00003
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) rs750104173 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_000823.4(GHRHR):c.*88T>A rs578006876 0.00003
NM_000823.4(GHRHR):c.151A>G (p.Thr51Ala) rs141571344 0.00003
NM_000823.4(GHRHR):c.431T>A (p.Leu144His) rs121918118 0.00003
NM_000823.4(GHRHR):c.760G>A (p.Val254Met) rs375562610 0.00003
NM_000823.4(GHRHR):c.812+12C>T rs151020002 0.00003
NM_001059.3(TACR3):c.*143G>A rs145839786 0.00003
NM_001059.3(TACR3):c.1206C>T (p.Thr402=) rs201120800 0.00003
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) rs764659822 0.00003
NM_001059.3(TACR3):c.737C>T (p.Thr246Ile) rs200991185 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys) rs587777854 0.00003
NM_002303.6(LEPR):c.1374G>A (p.Ala458=) rs768308728 0.00003
NM_002303.6(LEPR):c.2185T>G (p.Leu729Val) rs768503592 0.00003
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) rs532294036 0.00003
NM_002303.6(LEPR):c.704-8T>C rs183928195 0.00003
NM_003865.3(HESX1):c.445G>A (p.Glu149Lys) rs104893742 0.00003
NM_003865.3(HESX1):c.479G>A (p.Arg160His) rs766234350 0.00003
NM_004186.5(SEMA3F):c.2095C>T (p.Arg699Trp) rs777811058 0.00003
NM_004186.5(SEMA3F):c.86C>T (p.Thr29Met) rs141286158 0.00003
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_005149.3(TBX19):c.*1230C>T rs775873047 0.00003
NM_005149.3(TBX19):c.840G>A (p.Glu280=) rs753572197 0.00003
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752 0.00003
NM_006261.5(PROP1):c.153G>C (p.Gly51=) rs555891165 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.*2347T>C rs886046010 0.00003
NM_012414.4(RAB3GAP2):c.*2901G>T rs533792649 0.00003
NM_012414.4(RAB3GAP2):c.-68C>T rs989511076 0.00003
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415 0.00003
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) rs770787571 0.00003
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) rs756886302 0.00003
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) rs774771619 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2534A>G (p.His845Arg) rs183772495 0.00003
NM_012414.4(RAB3GAP2):c.3648C>T (p.Phe1216=) rs745868602 0.00003
NM_012414.4(RAB3GAP2):c.4027-5T>C rs779800010 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.506C>T (p.Thr169Ile) rs140312751 0.00003
NM_012414.4(RAB3GAP2):c.614A>G (p.Asn205Ser) rs148476958 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012414.4(RAB3GAP2):c.960+14C>T rs752258077 0.00003
NM_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) rs747326285 0.00003
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341 0.00003
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962 0.00003
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) rs564120268 0.00003
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659 0.00003
NM_012431.3(SEMA3E):c.551-6G>A rs535143722 0.00003
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser) rs779163443 0.00003
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp) rs774777538 0.00003
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr) rs370930012 0.00003
NM_017780.4(CHD7):c.*2057G>A rs116952338 0.00003
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys) rs767302034 0.00003
NM_017780.4(CHD7):c.1380A>G (p.Pro460=) rs746064587 0.00003
NM_017780.4(CHD7):c.1563G>A (p.Pro521=) rs765356585 0.00003
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029 0.00003
NM_017780.4(CHD7):c.1677G>A (p.Ser559=) rs568348314 0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) rs776871277 0.00003
NM_017780.4(CHD7):c.1968G>A (p.Pro656=) rs569213080 0.00003
NM_017780.4(CHD7):c.2096+11G>A rs895506618 0.00003
NM_017780.4(CHD7):c.2097-20C>T rs569155117 0.00003
NM_017780.4(CHD7):c.2176G>T (p.Asp726Tyr) rs748119797 0.00003
NM_017780.4(CHD7):c.2307T>C (p.Asp769=) rs574260169 0.00003
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996 0.00003
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp) rs773773546 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721 0.00003
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) rs1278636503 0.00003
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) rs746168554 0.00003
NM_017780.4(CHD7):c.4534-19G>A rs1386563597 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys) rs545545721 0.00003
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=) rs529369619 0.00003
NM_017780.4(CHD7):c.5211-12C>T rs752789319 0.00003
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129 0.00003
NM_017780.4(CHD7):c.5535-4A>G rs777671269 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) rs373241264 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.6480T>G (p.Ala2160=) rs746037662 0.00003
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137 0.00003
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614 0.00003
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly) rs755396598 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser) rs763058890 0.00003
NM_017780.4(CHD7):c.7107C>T (p.Val2369=) rs773674773 0.00003
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549 0.00003
NM_017780.4(CHD7):c.7248G>A (p.Lys2416=) rs768074891 0.00003
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671 0.00003
NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp) rs369550114 0.00003
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=) rs746591351 0.00003
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) rs370231679 0.00003
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) rs886063041 0.00003
NM_017780.4(CHD7):c.8508G>A (p.Pro2836=) rs371399850 0.00003
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415 0.00003
NM_017780.4(CHD7):c.8802C>T (p.Ser2934=) rs778908675 0.00003
NM_019066.5(MAGEL2):c.1894G>A (p.Ala632Thr) rs777626175 0.00003
NM_021728.4(OTX2):c.*219G>A rs886050559 0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_021728.4(OTX2):c.698A>G (p.Asn233Ser) rs370761964 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_023110.3(FGFR1):c.*1286C>T rs886062909 0.00003
NM_023110.3(FGFR1):c.*1560C>T rs761096092 0.00003
NM_023110.3(FGFR1):c.*1965G>A rs886062907 0.00003
NM_023110.3(FGFR1):c.*2408C>T rs1004230937 0.00003
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.*762A>G rs886062914 0.00003
NM_023110.3(FGFR1):c.*802C>T rs938792635 0.00003
NM_023110.3(FGFR1):c.*991G>A rs866647792 0.00003
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu) rs372654433 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.181G>A (p.Val61Met) rs762089291 0.00003
NM_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 0.00003
NM_025000.4(DCAF17):c.*3705A>G rs577520268 0.00003
NM_025000.4(DCAF17):c.1468A>G (p.Ile490Val) rs140422102 0.00003
NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp) rs886055106 0.00003
NM_025000.4(DCAF17):c.532C>T (p.Arg178Trp) rs377364475 0.00003
NM_025000.4(DCAF17):c.841A>G (p.Met281Val) rs373435062 0.00003
NM_033343.4(LHX4):c.*91C>T rs555728017 0.00003
NM_033343.4(LHX4):c.-221G>A rs532307461 0.00003
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) rs765008063 0.00003
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) rs780869144 0.00003
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys) rs149396342 0.00003
NM_144773.4(PROKR2):c.506C>T (p.Thr169Met) rs527771034 0.00003
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_144773.4(PROKR2):c.809G>A (p.Arg270His) rs146544539 0.00003
NM_178138.6(LHX3):c.*32G>A rs771392788 0.00003
NM_178138.6(LHX3):c.*857C>T rs886063696 0.00003
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu) rs374047783 0.00003
NM_178138.6(LHX3):c.555C>A (p.His185Gln) rs760626241 0.00003
NM_178138.6(LHX3):c.79+1814G>T rs569646536 0.00003
NM_178138.6(LHX3):c.804G>C (p.Pro268=) rs771201500 0.00003
NM_178138.6(LHX3):c.993G>A (p.Gln331=) rs752480970 0.00003
NM_000061.3(BTK):c.1350-17C>A rs563329397 0.00002
NM_000061.3(BTK):c.363G>A (p.Arg121=) rs781811193 0.00002
NM_000061.3(BTK):c.482A>C (p.Asn161Thr) rs371085740 0.00002
NM_000061.3(BTK):c.520+13A>G rs201408619 0.00002
NM_000061.3(BTK):c.63A>G (p.Ser21=) rs781799902 0.00002
NM_000216.4(ANOS1):c.1143A>T (p.Gly381=) rs777132740 0.00002
NM_000216.4(ANOS1):c.409C>G (p.Pro137Ala) rs1043292415 0.00002
NM_000216.4(ANOS1):c.640C>G (p.Pro214Ala) rs138050192 0.00002
NM_000230.3(LEP):c.143C>T (p.Thr48Met) rs770247453 0.00002
NM_000406.2(GNRHR):c.-1059G>C rs569550069 0.00002
NM_000406.3(GNRHR):c.*2165A>G rs886059555 0.00002
NM_000439.5(PCSK1):c.*120C>T rs915412736 0.00002
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) rs762962091 0.00002
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val) rs774281185 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) rs753573139 0.00002
NM_002303.6(LEPR):c.1701C>T (p.Asn567=) rs2228301 0.00002
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) rs151190195 0.00002
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) rs776647803 0.00002
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_005149.3(TBX19):c.*88G>A rs980005154 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_012414.4(RAB3GAP2):c.*1791T>C rs556118037 0.00002
NM_012414.4(RAB3GAP2):c.1041-19_1041-18del rs746233410 0.00002
NM_012414.4(RAB3GAP2):c.115+11C>G rs375507434 0.00002
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) rs749859259 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012414.4(RAB3GAP2):c.2401C>T (p.Leu801=) rs773701395 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012414.4(RAB3GAP2):c.3094C>T (p.Arg1032Cys) rs777414532 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.3996A>G (p.Pro1332=) rs768393894 0.00002
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) rs767664284 0.00002
NM_012414.4(RAB3GAP2):c.540G>A (p.Leu180=) rs751363013 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672 0.00002
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852 0.00002
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile) rs752959572 0.00002
NM_012431.3(SEMA3E):c.1500+5G>A rs201772961 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His) rs779454555 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375 0.00002
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) rs773688938 0.00002
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) rs375209449 0.00002
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) rs780025635 0.00002
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys) rs775302619 0.00002
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) rs150833995 0.00002
NM_012431.3(SEMA3E):c.671-19C>A rs375797663 0.00002
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile) rs762866887 0.00002
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) rs1475070881 0.00002
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00002
NM_017514.5(PLXNA3):c.322C>T (p.Arg108Cys) rs782774035 0.00002
NM_017780.4(CHD7):c.*108A>G rs1412783180 0.00002
NM_017780.4(CHD7):c.*1628C>T rs956785378 0.00002
NM_017780.4(CHD7):c.*1679G>A rs1484512188 0.00002
NM_017780.4(CHD7):c.*505C>T rs886063046 0.00002
NM_017780.4(CHD7):c.*839A>G rs886063050 0.00002
NM_017780.4(CHD7):c.-70A>G rs1452184371 0.00002
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr) rs758228667 0.00002
NM_017780.4(CHD7):c.1813C>G (p.His605Asp) rs534225918 0.00002
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg) rs375905260 0.00002
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 0.00002
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889 0.00002
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013 0.00002
NM_017780.4(CHD7):c.2443-4dup rs1207292215 0.00002
NM_017780.4(CHD7):c.2523A>G (p.Ala841=) rs970128606 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) rs773685788 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00002
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser) rs886044146 0.00002
NM_017780.4(CHD7):c.296C>T (p.Ala99Val) rs772466277 0.00002
NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr) rs1374888110 0.00002
NM_017780.4(CHD7):c.304C>A (p.His102Asn) rs761253760 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.3696C>T (p.Gly1232=) rs774107363 0.00002
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=) rs372498366 0.00002
NM_017780.4(CHD7):c.3989+7A>G rs757622396 0.00002
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=) rs752377617 0.00002
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) rs770876591 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) rs749531765 0.00002
NM_017780.4(CHD7):c.4534-4T>G rs762875935 0.00002
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=) rs777176819 0.00002
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) rs371385411 0.00002
NM_017780.4(CHD7):c.4746T>C (p.Asp1582=) rs771978086 0.00002
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) rs773187713 0.00002
NM_017780.4(CHD7):c.4850+19G>A rs746769941 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) rs370321135 0.00002
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) rs769563309 0.00002
NM_017780.4(CHD7):c.5050+20T>A rs760955712 0.00002
NM_017780.4(CHD7):c.516G>A (p.Pro172=) rs377332156 0.00002
NM_017780.4(CHD7):c.5210+16G>T rs747154720 0.00002
NM_017780.4(CHD7):c.5214C>T (p.Val1738=) rs756430456 0.00002
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val) rs753913368 0.00002
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val) rs769931428 0.00002
NM_017780.4(CHD7):c.561G>A (p.Gln187=) rs181083503 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) rs550461070 0.00002
NM_017780.4(CHD7):c.6104-9G>A rs567669913 0.00002
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) rs1189776580 0.00002
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038 0.00002
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met) rs1349507815 0.00002
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu) rs766862122 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser) rs1416622951 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) rs572098274 0.00002
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) rs373370399 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.756G>A (p.Ser252=) rs371000762 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser) rs1012221437 0.00002
NM_017780.4(CHD7):c.7971+7G>A rs554518877 0.00002
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) rs757707495 0.00002
NM_017780.4(CHD7):c.8214G>A (p.Thr2738=) rs199570256 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) rs1242867481 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442 0.00002
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) rs749302988 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.193A>C (p.Asn65His) rs768919123 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg) rs140254426 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser) rs1419947824 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile) rs762665767 0.00002
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_025000.4(DCAF17):c.*1120A>T rs1281715681 0.00002
NM_025000.4(DCAF17):c.*211C>A rs974336214 0.00002
NM_025000.4(DCAF17):c.*2202A>G rs886055114 0.00002
NM_025000.4(DCAF17):c.180C>T (p.Ala60=) rs559441907 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025000.4(DCAF17):c.322-20A>C rs568712419 0.00002
NM_025000.4(DCAF17):c.350A>G (p.Tyr117Cys) rs776877044 0.00002
NM_025000.4(DCAF17):c.697G>A (p.Val233Ile) rs772824611 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_033343.4(LHX4):c.378G>A (p.Thr126=) rs751665904 0.00002
NM_144773.4(PROKR2):c.537G>A (p.Met179Ile) rs770233566 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys) rs921084722 0.00002
NM_178138.6(LHX3):c.79+1967C>A rs759584117 0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.1155T>C (p.Pro385=) rs782654519 0.00001
NM_000061.3(BTK):c.1176C>T (p.Tyr392=) rs782429199 0.00001
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr) rs782133950 0.00001
NM_000061.3(BTK):c.1392C>T (p.Cys464=) rs373846453 0.00001
NM_000061.3(BTK):c.142-8C>T rs782365356 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.1482G>A (p.Gln494=) rs1555977817 0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu) rs1057521814 0.00001
NM_000061.3(BTK):c.1737C>T (p.Asp579=) rs377324584 0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=) rs1340458277 0.00001
NM_000061.3(BTK):c.1800A>G (p.Arg600=) rs1926357397 0.00001
NM_000061.3(BTK):c.1823A>G (p.Glu608Gly) rs781930404 0.00001
NM_000061.3(BTK):c.1831G>T (p.Ala611Ser) rs1555977331 0.00001
NM_000061.3(BTK):c.189T>C (p.Cys63=) rs782683829 0.00001
NM_000061.3(BTK):c.240+7A>C rs782299012 0.00001
NM_000061.3(BTK):c.303C>T (p.Pro101=) rs1383556662 0.00001
NM_000061.3(BTK):c.309+17C>T rs1555980312 0.00001
NM_000061.3(BTK):c.310-7G>A rs781841095 0.00001
NM_000061.3(BTK):c.367C>T (p.Arg123Trp) rs1926975244 0.00001
NM_000061.3(BTK):c.391+19A>T rs1555980038 0.00001
NM_000061.3(BTK):c.520+16G>A rs782819971 0.00001
NM_000061.3(BTK):c.577G>C (p.Glu193Gln) rs1555978783 0.00001
NM_000061.3(BTK):c.580G>A (p.Glu194Lys) rs1555978779 0.00001
NM_000061.3(BTK):c.609G>A (p.Pro203=) rs781964043 0.00001
NM_000061.3(BTK):c.6C>T (p.Ala2=) rs372818780 0.00001
NM_000061.3(BTK):c.736G>C (p.Glu246Gln) rs1468544899 0.00001
NM_000061.3(BTK):c.7G>A (p.Ala3Thr) rs368549990 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000061.3(BTK):c.894+15A>C rs377652560 0.00001
NM_000061.3(BTK):c.974+7G>A rs1555978188 0.00001
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter) rs747010865 0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=) rs1449749900 0.00001
NM_000216.4(ANOS1):c.1826C>A (p.Ser609Tyr) rs1374828050 0.00001
NM_000216.4(ANOS1):c.735C>T (p.Asp245=) rs188939998 0.00001
NM_000230.3(LEP):c.*1369G>T rs1482418354 0.00001
NM_000230.3(LEP):c.*1579G>A rs200802392 0.00001
NM_000230.3(LEP):c.*1637A>G rs780861433 0.00001
NM_000230.3(LEP):c.*1738G>A rs201949587 0.00001
NM_000230.3(LEP):c.*1749T>C rs1483827030 0.00001
NM_000230.3(LEP):c.*57C>T rs1795318328 0.00001
NM_000230.3(LEP):c.*69A>G rs886061974 0.00001
NM_000230.3(LEP):c.*992G>T rs886061976 0.00001
NM_000230.3(LEP):c.144+15C>T rs776318015 0.00001
NM_000306.4(POU1F1):c.-48T>C rs771498395 0.00001
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val) rs771947200 0.00001
NM_000306.4(POU1F1):c.604+9T>C rs374875206 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000306.4(POU1F1):c.667A>G (p.Ile223Val) rs770960302 0.00001
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) rs104893764 0.00001
NM_000406.2(GNRHR):c.-1251T>C rs995685917 0.00001
NM_000406.2(GNRHR):c.-1741G>T rs886059579 0.00001
NM_000406.2(GNRHR):c.-721A>G rs886059571 0.00001
NM_000406.2(GNRHR):c.-922A>G rs886059573 0.00001
NM_000406.3(GNRHR):c.*1532C>A rs528286579 0.00001
NM_000406.3(GNRHR):c.*2748C>T rs1314834107 0.00001
NM_000406.3(GNRHR):c.*622T>C rs1029319746 0.00001
NM_000406.3(GNRHR):c.*662T>C rs535382437 0.00001
NM_000406.3(GNRHR):c.*668G>A rs1476710655 0.00001
NM_000406.3(GNRHR):c.*928C>A rs1011196434 0.00001
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) rs104893844 0.00001
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) rs727505367 0.00001
NM_000406.3(GNRHR):c.399G>A (p.Val133=) rs1245052683 0.00001
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) rs188272653 0.00001
NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys) rs1325732095 0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) rs28933074 0.00001
NM_000439.5(PCSK1):c.*1912G>A rs886060876 0.00001
NM_000439.5(PCSK1):c.*2636C>T rs1442234605 0.00001
NM_000439.5(PCSK1):c.*837G>A rs772439505 0.00001
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) rs140481124 0.00001
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) rs1168396288 0.00001
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) rs757534603 0.00001
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) rs137852824 0.00001
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) rs1183710202 0.00001
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) rs1314225482 0.00001
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.764G>T (p.Cys255Phe) rs1001710892 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_000515.5(GH1):c.309C>T (p.Arg103=) rs886053236 0.00001
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000823.4(GHRHR):c.*198C>A rs886062276 0.00001
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) rs376948691 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_000823.4(GHRHR):c.447C>T (p.Thr149=) rs753197652 0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) rs758798716 0.00001
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys) rs121918119 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) rs547906129 0.00001
NM_000823.4(GHRHR):c.882+11G>A rs200997755 0.00001
NM_000825.3(GNRH1):c.-984C>G rs566037144 0.00001
NM_001035235.4(SRA1):c.341G>A (p.Arg114His) rs1306465994 0.00001
NM_001059.3(TACR3):c.*125A>G rs201125726 0.00001
NM_001059.3(TACR3):c.-111C>A rs371989130 0.00001
NM_001059.3(TACR3):c.114G>T (p.Glu38Asp) rs886058977 0.00001
NM_001059.3(TACR3):c.1234G>A (p.Val412Met) rs151158699 0.00001
NM_001059.3(TACR3):c.1289C>T (p.Thr430Met) rs200736098 0.00001
NM_001059.3(TACR3):c.150C>T (p.Asn50=) rs201531776 0.00001
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) rs121918124 0.00001
NM_001059.3(TACR3):c.623G>A (p.Trp208Ter) rs727505375 0.00001
NM_001059.3(TACR3):c.688C>T (p.Arg230Cys) rs1195516345 0.00001
NM_001059.3(TACR3):c.737+1G>A rs760022956 0.00001
NM_001083111.2(GNRH1):c.-1-140G>A rs886062838 0.00001
NM_001083111.2(GNRH1):c.238-12T>C rs550878484 0.00001
NM_001083111.2(GNRH1):c.92G>A (p.Arg31His) rs1336171284 0.00001
NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr) rs587777864 0.00001
NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro) rs587777863 0.00001
NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly) rs1174502792 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001166114.2(PNPLA6):c.452G>A (p.Arg151Gln) rs376396266 0.00001
NM_001382289.1(FSHB):c.*551G>A rs886048179 0.00001
NM_001382289.1(FSHB):c.*663G>C rs779622190 0.00001
NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu) rs763300762 0.00001
NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter) rs374623109 0.00001
NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr) rs936222145 0.00001
NM_002303.6(LEPR):c.1299T>C (p.Asn433=) rs140137775 0.00001
NM_002303.6(LEPR):c.2046C>T (p.Asn682=) rs192825082 0.00001
NM_002303.6(LEPR):c.2103C>T (p.Phe701=) rs755504289 0.00001
NM_002303.6(LEPR):c.299C>G (p.Ser100Cys) rs1297438423 0.00001
NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys) rs563763692 0.00001
NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) rs779463781 0.00001
NM_002303.6(LEPR):c.371-9T>A rs1253993053 0.00001
NM_002303.6(LEPR):c.666C>G (p.Phe222Leu) rs886046503 0.00001
NM_002303.6(LEPR):c.921G>C (p.Gln307His) rs531183918 0.00001
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn) rs1332400265 0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_003865.3(HESX1):c.137C>T (p.Ala46Val) rs765587086 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His) rs121909173 0.00001
NM_003865.3(HESX1):c.240del (p.Glu81fs) rs777833871 0.00001
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg) rs375305919 0.00001
NM_003865.3(HESX1):c.357+2T>C rs575112817 0.00001
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) rs28936702 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003865.3(HESX1):c.517C>T (p.Leu173=) rs760501622 0.00001
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys) rs747106663 0.00001
NM_004186.5(SEMA3F):c.1354C>A (p.Pro452Thr) rs768661142 0.00001
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005149.3(TBX19):c.*1266C>T rs544283210 0.00001
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala) rs144416092 0.00001
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln) rs1310982370 0.00001
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) rs753455443 0.00001
NM_005149.3(TBX19):c.39T>G (p.Asp13Glu) rs886045508 0.00001
NM_005149.3(TBX19):c.536G>A (p.Arg179Gln) rs139968594 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) rs140528998 0.00001
NM_005149.3(TBX19):c.814G>T (p.Ala272Ser) rs752325337 0.00001
NM_005149.3(TBX19):c.916+2T>G rs763382655 0.00001
NM_005634.3(SOX3):c.753G>C (p.Pro251=) rs557384424 0.00001
NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln) rs919402688 0.00001
NM_006261.5(PROP1):c.109+13C>T rs759210335 0.00001
NM_006261.5(PROP1):c.110-2A>G rs1057516846 0.00001
NM_006261.5(PROP1):c.156G>A (p.Gly52=) rs781247441 0.00001
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.249G>A (p.Gln83=) rs373160119 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006261.5(PROP1):c.63del (p.Leu22fs) rs780134343 0.00001
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
NM_012414.4(RAB3GAP2):c.*2769G>T rs886046006 0.00001
NM_012414.4(RAB3GAP2):c.*436A>G rs1027206904 0.00001
NM_012414.4(RAB3GAP2):c.*537G>C rs886046015 0.00001
NM_012414.4(RAB3GAP2):c.*572G>T rs540128548 0.00001
NM_012414.4(RAB3GAP2):c.-20T>C rs926169525 0.00001
NM_012414.4(RAB3GAP2):c.-48A>G rs767297724 0.00001
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) rs779972563 0.00001
NM_012414.4(RAB3GAP2):c.108G>A (p.Arg36=) rs765320215 0.00001
NM_012414.4(RAB3GAP2):c.1097C>T (p.Pro366Leu) rs988513386 0.00001
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) rs763764406 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) rs747104956 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2051C>A (p.Ala684Glu) rs746414664 0.00001
NM_012414.4(RAB3GAP2):c.2117G>A (p.Gly706Asp) rs775609069 0.00001
NM_012414.4(RAB3GAP2):c.2264T>G (p.Met755Arg) rs1232753900 0.00001
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) rs746962559 0.00001
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) rs752461001 0.00001
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244 0.00001
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106 0.00001
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093 0.00001
NM_012414.4(RAB3GAP2):c.267G>A (p.Met89Ile) rs376681173 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) rs763047721 0.00001
NM_012414.4(RAB3GAP2):c.309A>C (p.Lys103Asn) rs1425618506 0.00001
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426 0.00001
NM_012414.4(RAB3GAP2):c.3336+15T>C rs373879791 0.00001
NM_012414.4(RAB3GAP2):c.3453C>T (p.His1151=) rs1300023412 0.00001
NM_012414.4(RAB3GAP2):c.3526G>A (p.Val1176Met) rs754940777 0.00001
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) rs148340670 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) rs1378967581 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg) rs370057302 0.00001
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) rs886046024 0.00001
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018 0.00001
NM_012414.4(RAB3GAP2):c.4026+10A>G rs746827542 0.00001
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) rs778754576 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_012414.4(RAB3GAP2):c.516T>C (p.Gly172=) rs568628754 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.612+15T>C rs777576498 0.00001
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) rs189134236 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795 0.00001
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=) rs1208777030 0.00001
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg) rs200162096 0.00001
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00001
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr) rs766917020 0.00001
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val) rs1390797360 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser) rs778519947 0.00001
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala) rs755186079 0.00001
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala) rs765714534 0.00001
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp) rs1788207145 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624 0.00001
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp) rs764562322 0.00001
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val) rs145819479 0.00001
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg) rs777818746 0.00001
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873 0.00001
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr) rs1033262030 0.00001
NM_012431.3(SEMA3E):c.1667+3G>A rs778403800 0.00001
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220 0.00001
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn) rs761147897 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098 0.00001
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849 0.00001
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) rs1451860370 0.00001
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813 0.00001
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) rs753319647 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) rs768606535 0.00001
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val) rs371910815 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) rs765517064 0.00001
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) rs1790350122 0.00001
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser) rs759100269 0.00001
NM_012431.3(SEMA3E):c.276+19G>C rs186974190 0.00001
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile) rs1789839857 0.00001
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=) rs770979660 0.00001
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) rs758897440 0.00001
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln) rs1241693530 0.00001
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val) rs765052488 0.00001
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) rs756263299 0.00001
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg) rs963545974 0.00001
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368 0.00001
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) rs773812106 0.00001
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val) rs745626807 0.00001
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr) rs1429112884 0.00001
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) rs1457393978 0.00001
NM_012431.3(SEMA3E):c.670+12G>A rs1383072223 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383 0.00001
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val) rs749567149 0.00001
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.999-3C>T rs566304903 0.00001
NM_012431.3(SEMA3E):c.999-9A>G rs776954864 0.00001
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His) rs1405560459 0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly) rs867131722 0.00001
NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter) rs918108896 0.00001
NM_017780.4(CHD7):c.*1737T>C rs1806282500 0.00001
NM_017780.4(CHD7):c.*1804T>G rs973384265 0.00001
NM_017780.4(CHD7):c.*731G>A rs886063049 0.00001
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652 0.00001
NM_017780.4(CHD7):c.1085T>C (p.Met362Thr) rs748181926 0.00001
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala) rs766747354 0.00001
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1141A>G (p.Met381Val) rs144778638 0.00001
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) rs1554581580 0.00001
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser) rs1300386910 0.00001
NM_017780.4(CHD7):c.1310A>G (p.His437Arg) rs746261185 0.00001
NM_017780.4(CHD7):c.1327A>G (p.Met443Val) rs559364802 0.00001
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser) rs1208556547 0.00001
NM_017780.4(CHD7):c.1361A>G (p.Asn454Ser) rs766249962 0.00001
NM_017780.4(CHD7):c.1395C>T (p.Ser465=) rs747525292 0.00001
NM_017780.4(CHD7):c.139T>G (p.Phe47Val) rs1364452059 0.00001
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala) rs911422083 0.00001
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) rs547298242 0.00001
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.1539C>T (p.Thr513=) rs777411052 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315 0.00001
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.164A>G (p.His55Arg) rs121434345 0.00001
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515 0.00001
NM_017780.4(CHD7):c.1665+17C>T rs760402351 0.00001
NM_017780.4(CHD7):c.168T>C (p.His56=) rs199776087 0.00001
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908 0.00001
NM_017780.4(CHD7):c.1881A>G (p.Gln627=) rs751273179 0.00001
NM_017780.4(CHD7):c.1887A>G (p.Leu629=) rs1480207845 0.00001
NM_017780.4(CHD7):c.1890T>C (p.Asn630=) rs754640263 0.00001
NM_017780.4(CHD7):c.1908G>A (p.Gly636=) rs923306494 0.00001
NM_017780.4(CHD7):c.1914A>G (p.Gln638=) rs777624090 0.00001
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) rs1335682527 0.00001
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034 0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) rs1373820202 0.00001
NM_017780.4(CHD7):c.2013G>A (p.Pro671=) rs1361271759 0.00001
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032 0.00001
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827 0.00001
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val) rs759010289 0.00001
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363 0.00001
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu) rs755898600 0.00001
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp) rs370267935 0.00001
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176 0.00001
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu) rs771267153 0.00001
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) rs1064794416 0.00001
NM_017780.4(CHD7):c.2238+6A>G rs886042205 0.00001
NM_017780.4(CHD7):c.2355C>T (p.Asn785=) rs376696075 0.00001
NM_017780.4(CHD7):c.2377-13C>A rs747682287 0.00001
NM_017780.4(CHD7):c.2377-3T>A rs545931432 0.00001
NM_017780.4(CHD7):c.2442+17C>T rs766555433 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.258G>A (p.Pro86=) rs750046226 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 0.00001
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp) rs772260091 0.00001
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln) rs1384228127 0.00001
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn) rs1330677850 0.00001
NM_017780.4(CHD7):c.2697+20A>G rs759236343 0.00001
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser) rs1224277360 0.00001
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg) rs755233517 0.00001
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) rs1014640333 0.00001
NM_017780.4(CHD7):c.276C>T (p.Asn92=) rs779967922 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu) rs753887911 0.00001
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys) rs751691380 0.00001
NM_017780.4(CHD7):c.2836-5A>G rs779518202 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu) rs1804067183 0.00001
NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg) rs773259542 0.00001
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678 0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) rs1345463010 0.00001
NM_017780.4(CHD7):c.2956A>G (p.Met986Val) rs764345519 0.00001
NM_017780.4(CHD7):c.297G>A (p.Ala99=) rs775823361 0.00001
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val) rs375374626 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) rs769161426 0.00001
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) rs1415116812 0.00001
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243 0.00001
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784 0.00001
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440 0.00001
NM_017780.4(CHD7):c.308C>T (p.Ser103Leu) rs1242372187 0.00001
NM_017780.4(CHD7):c.3160C>T (p.Arg1054Trp) rs1563631484 0.00001
NM_017780.4(CHD7):c.3202-7C>G rs376893919 0.00001
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln) rs1346050533 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307 0.00001
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys) rs753233210 0.00001
NM_017780.4(CHD7):c.3324C>T (p.His1108=) rs189618218 0.00001
NM_017780.4(CHD7):c.3378+16G>A rs771299507 0.00001
NM_017780.4(CHD7):c.33C>T (p.Gly11=) rs560030949 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3522+14C>G rs752672896 0.00001
NM_017780.4(CHD7):c.3523-3T>C rs1804451088 0.00001
NM_017780.4(CHD7):c.3525G>A (p.Val1175=) rs1804451207 0.00001
NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val) rs755429625 0.00001
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) rs748869169 0.00001
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150 0.00001
NM_017780.4(CHD7):c.3776A>G (p.Asn1259Ser) rs1239880284 0.00001
NM_017780.4(CHD7):c.3778+10C>T rs756438089 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.3778+18G>A rs749741616 0.00001
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.3994C>T (p.Pro1332Ser) rs1804764382 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.405G>A (p.Gly135=) rs1586248250 0.00001
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602 0.00001
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) rs898986489 0.00001
NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=) rs376148485 0.00001
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=) rs760088130 0.00001
NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn) rs1333684435 0.00001
NM_017780.4(CHD7):c.4354-7A>G rs778196351 0.00001
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=) rs1280225379 0.00001
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) rs1804820497 0.00001
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys) rs1009126876 0.00001
NM_017780.4(CHD7):c.4644+14C>T rs1368983693 0.00001
NM_017780.4(CHD7):c.4644+20C>T rs1168248095 0.00001
NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro) rs1804991326 0.00001
NM_017780.4(CHD7):c.474C>T (p.Ala158=) rs1056527329 0.00001
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys) rs763070165 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=) rs751778680 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr) rs375951527 0.00001
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051 0.00001
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969 0.00001
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His) rs1249078741 0.00001
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys) rs200964201 0.00001
NM_017780.4(CHD7):c.4850+13C>T rs1311582288 0.00001
NM_017780.4(CHD7):c.4850+16T>G rs1374096411 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=) rs1441410913 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.4899A>G (p.Gln1633=) rs761002319 0.00001
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744 0.00001
NM_017780.4(CHD7):c.498G>A (p.Gln166=) rs1223182973 0.00001
NM_017780.4(CHD7):c.501G>A (p.Pro167=) rs770348243 0.00001
NM_017780.4(CHD7):c.5025G>A (p.Gln1675=) rs769769149 0.00001
NM_017780.4(CHD7):c.5051-17T>G rs754678467 0.00001
NM_017780.4(CHD7):c.5067G>A (p.Val1689=) rs912054705 0.00001
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_017780.4(CHD7):c.5148C>T (p.Cys1716=) rs907665748 0.00001
NM_017780.4(CHD7):c.5154A>C (p.Pro1718=) rs988819155 0.00001
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=) rs766759257 0.00001
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796 0.00001
NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr) rs1805162137 0.00001
NM_017780.4(CHD7):c.5210+20A>G rs781624235 0.00001
NM_017780.4(CHD7):c.5211-17T>C rs1805309524 0.00001
NM_017780.4(CHD7):c.5211-19C>A rs371367716 0.00001
NM_017780.4(CHD7):c.528G>A (p.Gly176=) rs986970598 0.00001
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn) rs762824174 0.00001
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157 0.00001
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp) rs1233584524 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.5404+10G>A rs780602451 0.00001
NM_017780.4(CHD7):c.5404+5G>A rs1255859560 0.00001
NM_017780.4(CHD7):c.5404+9C>T rs755413885 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu) rs1317412492 0.00001
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val) rs1805407417 0.00001
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) rs558567843 0.00001
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431 0.00001
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599 0.00001
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=) rs773211166 0.00001
NM_017780.4(CHD7):c.549T>C (p.Pro183=) rs775862054 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.5532C>T (p.Asp1844=) rs368279646 0.00001
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) rs752961577 0.00001
NM_017780.4(CHD7):c.5665+9C>T rs568256905 0.00001
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936 0.00001
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252 0.00001
NM_017780.4(CHD7):c.577A>G (p.Met193Val) rs542672517 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr) rs1418642683 0.00001
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=) rs370573809 0.00001
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) rs1024797402 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.583C>T (p.Arg195Cys) rs773990845 0.00001
NM_017780.4(CHD7):c.584G>A (p.Arg195His) rs1250450695 0.00001
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly) rs1805484724 0.00001
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) rs1448374029 0.00001
NM_017780.4(CHD7):c.5895-3C>T rs757905650 0.00001
NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly) rs1013310877 0.00001
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala) rs1805501956 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_017780.4(CHD7):c.6104-5T>C rs376131239 0.00001
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) rs192260844 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) rs750835437 0.00001
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val) rs752107963 0.00001
NM_017780.4(CHD7):c.6207C>T (p.Leu2069=) rs755379819 0.00001
NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser) rs780772673 0.00001
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=) rs886038635 0.00001
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.631A>C (p.Ser211Arg) rs936848734 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe) rs367733295 0.00001
NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala) rs375490876 0.00001
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val) rs1064794182 0.00001
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=) rs763720460 0.00001
NM_017780.4(CHD7):c.6459T>C (p.Thr2153=) rs1484332534 0.00001
NM_017780.4(CHD7):c.6471C>T (p.Ile2157=) rs1170403904 0.00001
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg) rs1805560223 0.00001
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) rs762541154 0.00001
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val) rs1398262614 0.00001
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser) rs758745100 0.00001
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys) rs1227502557 0.00001
NM_017780.4(CHD7):c.6747T>A (p.Asp2249Glu) rs751843304 0.00001
NM_017780.4(CHD7):c.6753G>A (p.Ser2251=) rs755202253 0.00001
NM_017780.4(CHD7):c.6775+10T>C rs180852795 0.00001
NM_017780.4(CHD7):c.6775+6G>T rs773804340 0.00001
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) rs1047690374 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 0.00001
NM_017780.4(CHD7):c.685A>G (p.Thr229Ala) rs767816305 0.00001
NM_017780.4(CHD7):c.6914T>A (p.Phe2305Tyr) rs750003961 0.00001
NM_017780.4(CHD7):c.6936+19C>G rs1410303595 0.00001
NM_017780.4(CHD7):c.6936+6C>T rs762730711 0.00001
NM_017780.4(CHD7):c.6937-8C>T rs765520430 0.00001
NM_017780.4(CHD7):c.6937-9T>G rs1203336052 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) rs1247369056 0.00001
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531 0.00001
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu) rs1419897952 0.00001
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093 0.00001
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749 0.00001
NM_017780.4(CHD7):c.705G>A (p.Leu235=) rs918029767 0.00001
NM_017780.4(CHD7):c.711C>T (p.His237=) rs1188337353 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro) rs1285534131 0.00001
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) rs770959300 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=) rs777847508 0.00001
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=) rs749492213 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.7380T>G (p.Ser2460=) rs1259500954 0.00001
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg) rs759887905 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=) rs769395535 0.00001
NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu) rs371595770 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008 0.00001
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) rs1064794649 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu) rs1805941132 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu) rs1427104456 0.00001
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330 0.00001
NM_017780.4(CHD7):c.7789C>T (p.Leu2597=) rs774537514 0.00001
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) rs766382878 0.00001
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801 0.00001
NM_017780.4(CHD7):c.7818A>G (p.Pro2606=) rs764474527 0.00001
NM_017780.4(CHD7):c.7830+15G>A rs776953479 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.794A>G (p.His265Arg) rs779427012 0.00001
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln) rs747082615 0.00001
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) rs1372823546 0.00001
NM_017780.4(CHD7):c.7972-10C>G rs912810188 0.00001
NM_017780.4(CHD7):c.7972-4C>T rs1193013965 0.00001
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) rs1056534038 0.00001
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=) rs576905094 0.00001
NM_017780.4(CHD7):c.804C>T (p.Ser268=) rs780756877 0.00001
NM_017780.4(CHD7):c.8067T>G (p.Val2689=) rs772599631 0.00001
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) rs1418386669 0.00001
NM_017780.4(CHD7):c.813C>T (p.His271=) rs773253450 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) rs756347672 0.00001
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) rs1284559737 0.00001
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg) rs373124679 0.00001
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884 0.00001
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr) rs935815422 0.00001
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr) rs200140270 0.00001
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) rs769500488 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393 0.00001
NM_017780.4(CHD7):c.8418G>C (p.Leu2806=) rs776919709 0.00001
NM_017780.4(CHD7):c.8424C>T (p.Asn2808=) rs773594482 0.00001
NM_017780.4(CHD7):c.8425G>A (p.Val2809Met) rs763048936 0.00001
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365 0.00001
NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup) rs1443281585 0.00001
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) rs794727604 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys) rs1222693383 0.00001
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) rs970020036 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg) rs768688793 0.00001
NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala) rs773395000 0.00001
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596 0.00001
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) rs764758566 0.00001
NM_017780.4(CHD7):c.8751G>C (p.Thr2917=) rs761033941 0.00001
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr) rs762344310 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys) rs745944842 0.00001
NM_017780.4(CHD7):c.883C>T (p.Arg295Trp) rs750978197 0.00001
NM_017780.4(CHD7):c.884G>A (p.Arg295Gln) rs569799707 0.00001
NM_017780.4(CHD7):c.8856C>A (p.Thr2952=) rs770325741 0.00001
NM_017780.4(CHD7):c.8859T>C (p.Leu2953=) rs1218577575 0.00001
NM_017780.4(CHD7):c.8868C>T (p.Ser2956=) rs575284775 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu) rs768014298 0.00001
NM_017780.4(CHD7):c.910A>G (p.Ile304Val) rs1274555136 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) rs1053945677 0.00001
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) rs763572916 0.00001
NM_018077.3(RBM28):c.1052T>C (p.Leu351Pro) rs118204055 0.00001
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln) rs201234922 0.00001
NM_018117.12(WDR11):c.2108G>A (p.Arg703Gln) rs753696030 0.00001
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_019066.5(MAGEL2):c.1507G>A (p.Ala503Thr) rs1331788296 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_019066.5(MAGEL2):c.2498C>A (p.Ala833Glu) rs374790538 0.00001
NM_019066.5(MAGEL2):c.2568G>A (p.Met856Ile) rs1454934495 0.00001
NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser) rs899176705 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_021728.4(OTX2):c.*1018T>C rs1594950988 0.00001
NM_021728.4(OTX2):c.*147G>T rs1478094910 0.00001
NM_021728.4(OTX2):c.*543A>G rs948990605 0.00001
NM_021728.4(OTX2):c.*648C>A rs886050556 0.00001
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*1086A>T rs1287148499 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.*1149G>A rs923197183 0.00001
NM_023110.3(FGFR1):c.*2445A>G rs1261528641 0.00001
NM_023110.3(FGFR1):c.*928G>A rs1814772534 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val) rs1324436328 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys) rs923019674 0.00001
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=) rs199499923 0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr) rs749758370 0.00001
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys) rs778531708 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg) rs903239767 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn) rs1586379709 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp) rs375611478 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2292+6G>T rs905873179 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser) rs1815142188 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg) rs17182456 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.277C>T (p.Pro93Ser) rs372511659 0.00001
NM_023110.3(FGFR1):c.279C>T (p.Pro93=) rs781034707 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro) rs764533580 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr) rs775228360 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser) rs746094709 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.621+4C>T rs750639887 0.00001
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val) rs763771933 0.00001
NM_023110.3(FGFR1):c.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe) rs1230569367 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NM_025000.4(DCAF17):c.*105A>G rs551802113 0.00001
NM_025000.4(DCAF17):c.*153C>G rs1478413852 0.00001
NM_025000.4(DCAF17):c.*1540C>T rs1398582890 0.00001
NM_025000.4(DCAF17):c.*1557T>A rs920241912 0.00001
NM_025000.4(DCAF17):c.*2241T>C rs1309335857 0.00001
NM_025000.4(DCAF17):c.*2535C>A rs1339928313 0.00001
NM_025000.4(DCAF17):c.*2947A>C rs972785459 0.00001
NM_025000.4(DCAF17):c.*3551C>T rs947332859 0.00001
NM_025000.4(DCAF17):c.*423T>C rs1317171792 0.00001
NM_025000.4(DCAF17):c.*432C>G rs772229487 0.00001
NM_025000.4(DCAF17):c.*48A>T rs753380867 0.00001
NM_025000.4(DCAF17):c.*876G>C rs370150751 0.00001
NM_025000.4(DCAF17):c.-206C>G rs886055103 0.00001
NM_025000.4(DCAF17):c.-212C>T rs1350956940 0.00001
NM_025000.4(DCAF17):c.-213C>T rs377182072 0.00001
NM_025000.4(DCAF17):c.-9C>G rs886055105 0.00001
NM_025000.4(DCAF17):c.1053T>C (p.Ala351=) rs1574398684 0.00001
NM_025000.4(DCAF17):c.1091+13A>G rs886055107 0.00001
NM_025000.4(DCAF17):c.1091+2T>C rs1235902967 0.00001
NM_025000.4(DCAF17):c.1183-5G>T rs762875945 0.00001
NM_025000.4(DCAF17):c.1183-6T>C rs587780328 0.00001
NM_025000.4(DCAF17):c.1212T>G (p.Ser404=) rs141121608 0.00001
NM_025000.4(DCAF17):c.1332A>T (p.Ile444=) rs370984688 0.00001
NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile) rs375426959 0.00001
NM_025000.4(DCAF17):c.1438G>A (p.Val480Ile) rs755775466 0.00001
NM_025000.4(DCAF17):c.1533A>G (p.Glu511=) rs375191229 0.00001
NM_025000.4(DCAF17):c.198A>G (p.Ile66Met) rs775568340 0.00001
NM_025000.4(DCAF17):c.208A>G (p.Asn70Asp) rs763821953 0.00001
NM_025000.4(DCAF17):c.321+17G>A rs1301588115 0.00001
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135 0.00001
NM_025000.4(DCAF17):c.399A>G (p.Ile133Met) rs919541317 0.00001
NM_025000.4(DCAF17):c.554A>G (p.His185Arg) rs775985887 0.00001
NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) rs1470826074 0.00001
NM_025000.4(DCAF17):c.652A>G (p.Thr218Ala) rs1391207996 0.00001
NM_025000.4(DCAF17):c.708T>C (p.Tyr236=) rs1695361840 0.00001
NM_025000.4(DCAF17):c.838+14A>G rs374359784 0.00001
NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter) rs761229686 0.00001
NM_025000.4(DCAF17):c.982-2A>C rs780493577 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_033163.5(FGF8):c.379C>G (p.Arg127Gly) rs137852663 0.00001
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) rs201612374 0.00001
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) rs200187045 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_033343.4(LHX4):c.452-2A>C rs786204780 0.00001
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) rs766381404 0.00001
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) rs747140246 0.00001
NM_144773.4(PROKR2):c.1052A>C (p.His351Pro) rs1425069359 0.00001
NM_144773.4(PROKR2):c.169G>T (p.Gly57Cys) rs201283126 0.00001
NM_144773.4(PROKR2):c.208G>A (p.Gly70Ser) rs764674615 0.00001
NM_144773.4(PROKR2):c.273C>T (p.Leu91=) rs759954578 0.00001
NM_144773.4(PROKR2):c.343G>A (p.Val115Met) rs138672528 0.00001
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg) rs74315417 0.00001
NM_144773.4(PROKR2):c.663G>A (p.Lys221=) rs1051636587 0.00001
NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys) rs538606142 0.00001
NM_144773.4(PROKR2):c.930C>G (p.His310Gln) rs775755881 0.00001
NM_144773.4(PROKR2):c.955G>A (p.Glu319Lys) rs754796297 0.00001
NM_178138.6(LHX3):c.*1031A>G rs569655668 0.00001
NM_178138.6(LHX3):c.*140G>A rs1181863841 0.00001
NM_178138.6(LHX3):c.*237G>A rs1252042714 0.00001
NM_178138.6(LHX3):c.*403T>C rs919677270 0.00001
NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala) rs1260618703 0.00001
NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys) rs886063702 0.00001
NM_178138.6(LHX3):c.145C>T (p.Arg49Cys) rs781049722 0.00001
NM_178138.6(LHX3):c.79+1933G>C rs1391957672 0.00001
NM_178138.6(LHX3):c.80-10G>A rs555766551 0.00001
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp) rs758724505 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_207111.4(RNF216):c.108C>G (p.Asp36Glu) rs780693172 0.00001
NM_207111.4(RNF216):c.1849A>G (p.Met617Val) rs200769983 0.00001
46;X;t(X;5)(q24;q13)dn
46;XX;inv(2)(p11q13)dn
46;XY;t(7;12)(q21.13;q24)dn
GH1, 6.7-KB DEL
GRCh37/hg19 15q11.2(chr15:22698522-25199682)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
GRCh37/hg19 7p22.1(chr7:5692044-5692141)
GRCh37/hg19 7q21.11(chr7:83664877-83740076)
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1
K146R
NC_000001.10:g.(?_218520044)_(220986760_?)del
NC_000001.10:g.(?_220088791)_(220406225_?)dup
NC_000001.10:g.(?_220088791)_(220445679_?)dup
NC_000001.10:g.(?_220330592)_(220335630_?)del
NC_000001.10:g.(?_220345211)_(220375736_?)dup
NC_000001.11:g.168300444G>T rs930801019
NC_000002.11:g.(?_172291088)_(172291716_?)del
NC_000002.11:g.(?_172291088)_(172315007_?)del
NC_000002.12:g.128262169_128275055dup
NC_000003.11:g.(?_57130421)_(57303715_?)dup
NC_000003.12:g.87310484C>T rs606231411
NC_000007.13:g.(?_81331897)_(84751207_?)dup
NC_000007.13:g.(?_82996902)_(82997374_?)dup
NC_000007.13:g.(?_83047686)_(83047819_?)dup
NC_000007.13:g.(?_83047686)_(83119610_?)dup
NC_000007.13:g.(?_83277724)_(83277858_?)del
NC_000007.13:g.(?_83277724)_(83614813_?)dup
NC_000007.14:g.(83833300_?)_(?_84046323)del
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C rs2128596101
NC_000007.14:g.31008681G>T rs1562606449
NC_000007.14:g.62535490A>G rs483352872
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
NC_000008.10:g.(?_37595441)_(38961219_?)del
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_38275830)_(38277082_?)del
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.10:g.(?_38314854)_(38314964_?)dup
NC_000008.10:g.(?_61121344)_(62626930_?)dup
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.10:g.(?_61653992)_(62626930_?)del
NC_000008.10:g.(?_61720756)_(61720851_?)del
NC_000008.10:g.(?_61777555)_(61778492_?)dup
NC_000008.11:g.(?_38424489)_(38461126_?)del
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NC_000008.11:g.228116G>C rs1584891562
NC_000008.11:g.38463238_38470748del
NC_000008.11:g.60867891_60867903delins60868515_60868872
NC_000009.12:g.(?_136197325)_(136205012_?)del
NC_000011.10:g.61969097_61969098insGA
NC_000017.11:g.(63914995_63921260)del
NC_000019.9:g.(?_917332)_(921006_?)del
NC_000020.10:g.(?_5279863)_(5283383_5294557)del
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
NC_000023.10:g.(?_100603501)_(100608996_?)del
NC_000023.10:g.(?_100604853)_(100609705_?)del
NC_000023.10:g.(?_100604873)_(100604964_?)del
NC_000023.10:g.(?_100604873)_(100630272_?)dup
NC_000023.10:g.(?_100604873)_(100667593_?)del
NC_000023.10:g.(?_100608162)_(100615763_?)del
NC_000023.10:g.(?_100611020)_(100615763_?)del
NC_000023.10:g.(?_100614261)_(100615763_?)del
NC_000023.10:g.(?_100617141)_(100662891_?)dup
NC_000023.10:g.(?_100624966)_(100641212_?)del
NC_000023.10:g.(?_100629415)_(100630272_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_30322696)_(30327480_?)dup
NC_000023.10:g.(?_8501036)_(8522159_?)dup
NC_000023.10:g.(?_8501036)_(8565317_?)del
NC_000023.10:g.(?_8501036)_(8591731_?)del
NC_000023.10:g.(?_8501036)_(8700077_?)del
NC_000023.10:g.(?_8501036)_(8700077_?)dup
NC_000023.10:g.(?_8538520)_(8700077_?)dup
NC_000023.10:g.(?_8555815)_(8700097_?)dup
NC_000023.10:g.(?_8565055)_(8591731_?)dup
NC_000023.10:g.(?_8667719)_(8700077_?)dup
NC_000023.10:g.(?_8667719)_(8700097_?)dup
NC_000023.10:g.(?_99551275)_(101097764_?)dup
NC_000023.11:g.(?_101353174)_(101358716_?)dup
NC_000023.11:g.(?_101362153)_(101362709_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000023.11:g.(?_30304579)_(30309363_?)del
NC_000023.11:g.(?_8553932)_(8597276_?)dup
NC_000023.11:g.101353342_101353352del
NC_000023.11:g.101353352dup
NC_000023.11:g.101358697del
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
NG_007009.1:g.138884_149300del
NG_007088.2:g.(37490_113516)_(149394_151790)del
NG_007088.2:g.(37490_113516)_(151921_166482)del
NG_007088.2:g.(37490_113516)_(202869_204133)del
NG_009814.1:g.(?_4989)_(10173_?)del
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) rs587779349
NM_000061.3(BTK):c.*334TG[4] rs200445244
NM_000061.3(BTK):c.-31+1G>A rs1927600989
NM_000061.3(BTK):c.-31+6T>C
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.1008G>A (p.Val336=)
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
NM_000061.3(BTK):c.1011T>C (p.Cys337=)
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
NM_000061.3(BTK):c.1035C>T (p.Tyr345=)
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro) rs1603006298
NM_000061.3(BTK):c.1053T>C (p.Leu351=)
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr) rs1057517709
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys) rs1555978130
NM_000061.3(BTK):c.1072C>T (p.Leu358Phe)
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1083C>T (p.Tyr361=) rs1410917239
NM_000061.3(BTK):c.1085A>G (p.His362Arg) rs2147429797
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr) rs2147429790
NM_000061.3(BTK):c.1102+13G>A
NM_000061.3(BTK):c.1102+20G>A
NM_000061.3(BTK):c.1102+7A>G
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter) rs2147429777
NM_000061.3(BTK):c.1103-17CT[4]
NM_000061.3(BTK):c.1103-23_1103-20del
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) rs128621197
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.1177+7C>T
NM_000061.3(BTK):c.1177+8C>T
NM_000061.3(BTK):c.1178-12C>T
NM_000061.3(BTK):c.1178-17C>G
NM_000061.3(BTK):c.1178-19A>C
NM_000061.3(BTK):c.1178-8A>T
NM_000061.3(BTK):c.1178-9T>C
NM_000061.3(BTK):c.1197A>G (p.Pro399=)
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) rs1555980875
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
NM_000061.3(BTK):c.1208C>T (p.Thr403Ile)
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile) rs1603005179
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
NM_000061.3(BTK):c.1245A>T (p.Val415=) rs2147428320
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) rs1926503277
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter) rs1603005139
NM_000061.3(BTK):c.1266A>G (p.Arg422=)
NM_000061.3(BTK):c.1272G>A (p.Gln424=)
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
NM_000061.3(BTK):c.1275C>T (p.Tyr425=)
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
NM_000061.3(BTK):c.1284C>T (p.Ala428=)
NM_000061.3(BTK):c.1295T>A (p.Ile432Asn)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.1311G>A (p.Met437Ile)
NM_000061.3(BTK):c.1317A>G (p.Glu439=)
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter) rs1603005073
NM_000061.3(BTK):c.1349+11G>C
NM_000061.3(BTK):c.1349+18C>T
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.1349+20C>T
NM_000061.3(BTK):c.1349+2dup rs2147428153
NM_000061.3(BTK):c.1349+5G>T
NM_000061.3(BTK):c.1349+6T>G
NM_000061.3(BTK):c.1349+7T>G
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) rs1927166327
NM_000061.3(BTK):c.1350-1G>A rs1926477495
NM_000061.3(BTK):c.1350-2A>G
NM_000061.3(BTK):c.1350-4G>A
NM_000061.3(BTK):c.1350-6C>T rs1926477882
NM_000061.3(BTK):c.1350-9T>C
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.1365G>A (p.Glu455=)
NM_000061.3(BTK):c.1377G>A (p.Gln459=)
NM_000061.3(BTK):c.1378T>C (p.Leu460=)
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter) rs2147427562
NM_000061.3(BTK):c.1386C>T (p.Gly462=)
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
NM_000061.3(BTK):c.138dup (p.Gly47fs) rs2147448137
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe) rs2147427522
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter) rs2147427505
NM_000061.3(BTK):c.141+12G>A
NM_000061.3(BTK):c.141+13A>G
NM_000061.3(BTK):c.141+16A>G
NM_000061.3(BTK):c.141+19A>C
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1416C>T (p.Ile472=)
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn) rs1926475663
NM_000061.3(BTK):c.142-12T>A
NM_000061.3(BTK):c.142-12T>C
NM_000061.3(BTK):c.142-16T>A
NM_000061.3(BTK):c.142-4T>C
NM_000061.3(BTK):c.142-5del
NM_000061.3(BTK):c.1420dup (p.Thr474fs) rs2147427470
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro) rs1926474231
NM_000061.3(BTK):c.1458G>A (p.Leu486=)
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
NM_000061.3(BTK):c.1469G>A (p.Arg490His) rs1926473502
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro) rs782338603
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro) rs2147427327
NM_000061.3(BTK):c.1491G>C (p.Gln497His)
NM_000061.3(BTK):c.1492C>G (p.Leu498Val) rs1555977807
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr) rs1313261352
NM_000061.3(BTK):c.150C>A (p.Gly50=)
NM_000061.3(BTK):c.1513G>T (p.Val505Phe) rs1603004514
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
NM_000061.3(BTK):c.1517G>T (p.Cys506Phe)
NM_000061.3(BTK):c.1524C>T (p.Ala508=)
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro) rs2147427255
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
NM_000061.3(BTK):c.1536G>A (p.Leu512=)
NM_000061.3(BTK):c.1537del (p.Glu513fs)
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
NM_000061.3(BTK):c.153dup (p.Lys52Ter)
NM_000061.3(BTK):c.1540T>A (p.Ser514Thr)
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter) rs1603004481
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) rs2147427209
NM_000061.3(BTK):c.1566+20G>A
NM_000061.3(BTK):c.1566+7C>T
NM_000061.3(BTK):c.1567-117_1604del rs2147425786
NM_000061.3(BTK):c.1567-12_1567-9del rs1569291244
NM_000061.3(BTK):c.1567-2A>C
NM_000061.3(BTK):c.1567-2A>G rs1555977598
NM_000061.3(BTK):c.1567-9G>T
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly) rs886041149
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1575A>G (p.Arg525=)
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys) rs1569291237
NM_000061.3(BTK):c.1578C>G (p.Asn526Lys)
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
NM_000061.3(BTK):c.1602T>G (p.Val534=)
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu) rs1603003195
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
NM_000061.3(BTK):c.1620C>T (p.Phe540=)
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1626G>T (p.Leu542=) rs2147425748
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
NM_000061.3(BTK):c.1631+18A>T
NM_000061.3(BTK):c.1631+2T>C rs1926404536
NM_000061.3(BTK):c.1631+5G>A
NM_000061.3(BTK):c.1631+5G>C rs1926404279
NM_000061.3(BTK):c.1631+6T>G rs2147425735
NM_000061.3(BTK):c.1631+71C>T rs2071223
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
NM_000061.3(BTK):c.1632-11_1632-6del
NM_000061.3(BTK):c.1632-15C>T
NM_000061.3(BTK):c.1632-18G>A
NM_000061.3(BTK):c.1632-20A>C
NM_000061.3(BTK):c.1632-20A>T
NM_000061.3(BTK):c.1632-2A>G rs886039555
NM_000061.3(BTK):c.1632-3C>A rs1926384033
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
NM_000061.3(BTK):c.163T>C (p.Ser55Pro) rs1603019607
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs) rs2147425053
NM_000061.3(BTK):c.1662A>C (p.Ser554=)
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
NM_000061.3(BTK):c.1666G>A (p.Gly556Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) rs1927146374
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) rs1555977474
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) rs2147424985
NM_000061.3(BTK):c.1692C>T (p.Ser564=)
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) rs1057521814
NM_000061.3(BTK):c.1699del (p.Glu567fs)
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs) rs1603002367
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu) rs1926379592
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr) rs2147424863
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys) rs1603002341
NM_000061.3(BTK):c.1743_1744del (p.Trp581fs)
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) rs1926378381
NM_000061.3(BTK):c.1750+11A>G
NM_000061.3(BTK):c.1750+16T>A
NM_000061.3(BTK):c.1750+1G>A
NM_000061.3(BTK):c.1750+1G>T
NM_000061.3(BTK):c.1750+5G>A rs864321659
NM_000061.3(BTK):c.1751-13T>C
NM_000061.3(BTK):c.1751-16T>C
NM_000061.3(BTK):c.1751-17T>C
NM_000061.3(BTK):c.1751-18A>C
NM_000061.3(BTK):c.1751-18A>T
NM_000061.3(BTK):c.1751-1G>A
NM_000061.3(BTK):c.1751-1G>C rs1603001846
NM_000061.3(BTK):c.1751-1G>T
NM_000061.3(BTK):c.1751-2A>G
NM_000061.3(BTK):c.1751-8C>T
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu) rs1926361058
NM_000061.3(BTK):c.1752G>C (p.Gly584=)
NM_000061.3(BTK):c.1759A>C (p.Met587Leu) rs1603001822
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) rs1603001805
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) rs1926358858
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro) rs1603001783
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr) rs1926358194
NM_000061.3(BTK):c.1777del (p.Leu593fs)
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro) rs2147424197
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser) rs868967798
NM_000061.3(BTK):c.1790C>T (p.Pro597Leu)
NM_000061.3(BTK):c.1793A>C (p.Tyr598Ser)
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
NM_000061.3(BTK):c.1822G>A (p.Glu608Lys)
NM_000061.3(BTK):c.182T>A (p.Ile61Asn)
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
NM_000061.3(BTK):c.1833C>T (p.Ala611=)
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys) rs1603001680
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu) rs1901797830
NM_000061.3(BTK):c.1852A>C (p.Arg618=) rs1569290824
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro) rs2147424035
NM_000061.3(BTK):c.1864del (p.Ala622fs)
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu) rs1926354581
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
NM_000061.3(BTK):c.1884C>A (p.Thr628=)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) rs1926352588
NM_000061.3(BTK):c.1908+18A>G
NM_000061.3(BTK):c.1908+18A>T
NM_000061.3(BTK):c.1908+1G>T rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1908+7G>T
NM_000061.3(BTK):c.1909-17T>G
NM_000061.3(BTK):c.1909-18C>T
NM_000061.3(BTK):c.1909-1G>A
NM_000061.3(BTK):c.1909-20T>C
NM_000061.3(BTK):c.1909-7G>A
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
NM_000061.3(BTK):c.1922G>A (p.Arg641His) rs1926220192
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1922G>T (p.Arg641Leu)
NM_000061.3(BTK):c.1926del (p.Thr643fs)
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser) rs2147419969
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) rs1926219727
NM_000061.3(BTK):c.193G>T (p.Glu65Ter)
NM_000061.3(BTK):c.1942C>T (p.Leu648=)
NM_000061.3(BTK):c.1965G>A (p.Met655Ile)
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
NM_000061.3(BTK):c.215del (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.216T>G (p.Asn72Lys) rs1555980789
NM_000061.3(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.3(BTK):c.232C>T (p.Gln78Ter) rs1603019535
NM_000061.3(BTK):c.232_235del (p.Gln78fs)
NM_000061.3(BTK):c.234G>A (p.Gln78=)
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
NM_000061.3(BTK):c.240+109C>A rs2147447393
NM_000061.3(BTK):c.240+12_240+24del
NM_000061.3(BTK):c.240+15A>G
NM_000061.3(BTK):c.240+17G>C
NM_000061.3(BTK):c.240+2dup
NM_000061.3(BTK):c.240+8G>A
NM_000061.3(BTK):c.240+9A>T
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.241-16dup rs1401131061
NM_000061.3(BTK):c.241-1G>C rs2147444958
NM_000061.3(BTK):c.241-3C>T
NM_000061.3(BTK):c.241-4A>G
NM_000061.3(BTK):c.241-5T>C rs2147444963
NM_000061.3(BTK):c.241-7A>G
NM_000061.3(BTK):c.258C>T (p.Ser86=)
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
NM_000061.3(BTK):c.270del (p.Glu90fs) rs1603017538
NM_000061.3(BTK):c.274del (p.Ile92fs)
NM_000061.3(BTK):c.278C>A (p.Ser93Ter) rs1569295678
NM_000061.3(BTK):c.279A>T (p.Ser93=)
NM_000061.3(BTK):c.282C>G (p.Ile94Met) rs2147444915
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
NM_000061.3(BTK):c.294C>T (p.Phe98=)
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
NM_000061.3(BTK):c.303C>G (p.Pro101=)
NM_000061.3(BTK):c.305T>C (p.Phe102Ser) rs2147444867
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
NM_000061.3(BTK):c.309+11T>C
NM_000061.3(BTK):c.309+13C>T
NM_000061.3(BTK):c.309+1G>A
NM_000061.3(BTK):c.309+8A>C
NM_000061.3(BTK):c.309+8A>G
NM_000061.3(BTK):c.310-19T>A
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.310-20C>A
NM_000061.3(BTK):c.310-5C>T
NM_000061.3(BTK):c.310-8C>T
NM_000061.3(BTK):c.318T>C (p.Tyr106=)
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr) rs1926977202
NM_000061.3(BTK):c.31C>A (p.Leu11Met)
NM_000061.3(BTK):c.321T>C (p.Asp107=)
NM_000061.3(BTK):c.32T>C (p.Leu11Pro) rs1603020228
NM_000061.3(BTK):c.332T>C (p.Leu111Pro)
NM_000061.3(BTK):c.332T>G (p.Leu111Arg)
NM_000061.3(BTK):c.334T>C (p.Tyr112His) rs1926977049
NM_000061.3(BTK):c.334dup (p.Tyr112fs)
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>T (p.Tyr112=)
NM_000061.3(BTK):c.337G>A (p.Val113Ile) rs2147443453
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
NM_000061.3(BTK):c.345C>T (p.Ser115=) rs782476406
NM_000061.3(BTK):c.349A>C (p.Thr117Pro) rs782820524
NM_000061.3(BTK):c.351T>C (p.Thr117=)
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
NM_000061.3(BTK):c.355del (p.Glu119fs)
NM_000061.3(BTK):c.357A>G (p.Glu119=)
NM_000061.3(BTK):c.36G>A (p.Lys12=)
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.375_379dup (p.Gln127fs)
NM_000061.3(BTK):c.379del (p.Gln127fs)
NM_000061.3(BTK):c.37C>A (p.Arg13=)
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.3(BTK):c.391+1G>A rs2147443380
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
NM_000061.3(BTK):c.392-8T>C
NM_000061.3(BTK):c.397C>A (p.Arg133=)
NM_000061.3(BTK):c.39A>G (p.Arg13=)
NM_000061.3(BTK):c.3G>A (p.Met1Ile) rs1927172387
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
NM_000061.3(BTK):c.414G>T (p.Leu138=)
NM_000061.3(BTK):c.41C>T (p.Ser14Phe) rs1057520682
NM_000061.3(BTK):c.423del (p.Lys141fs)
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.43del (p.Gln15fs)
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) rs1926711302
NM_000061.3(BTK):c.444C>A (p.Ile148=)
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
NM_000061.3(BTK):c.457C>A (p.Leu153Ile)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) rs1926710166
NM_000061.3(BTK):c.467del (p.Ser156fs)
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.492C>A (p.Gly164=)
NM_000061.3(BTK):c.493T>C (p.Cys165Arg) rs1603010344
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.496C>T (p.Gln166Ter) rs1926708861
NM_000061.3(BTK):c.502T>C (p.Leu168=)
NM_000061.3(BTK):c.513dup (p.Asn172fs)
NM_000061.3(BTK):c.516T>C (p.Asn172=)
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
NM_000061.3(BTK):c.520+15C>G
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.520+17A>C
NM_000061.3(BTK):c.520+18T>C
NM_000061.3(BTK):c.520+19A>G
NM_000061.3(BTK):c.520+1G>A rs2147435832
NM_000061.3(BTK):c.521-11T>C rs1926696577
NM_000061.3(BTK):c.521-16G>C
NM_000061.3(BTK):c.521-1G>A rs1926696248
NM_000061.3(BTK):c.521-5T>C
NM_000061.3(BTK):c.521-5del
NM_000061.3(BTK):c.522C>T (p.Ser174=)
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
NM_000061.3(BTK):c.536G>A (p.Ser179Asn)
NM_000061.3(BTK):c.543C>T (p.His181=)
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.561T>C (p.Pro187=)
NM_000061.3(BTK):c.564del (p.Pro190fs) rs1603009890
NM_000061.3(BTK):c.573G>T (p.Thr191=)
NM_000061.3(BTK):c.576T>C (p.Pro192=)
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
NM_000061.3(BTK):c.588+14C>G
NM_000061.3(BTK):c.588+1G>A
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+3A>G
NM_000061.3(BTK):c.588+4T>C
NM_000061.3(BTK):c.588+5A>C
NM_000061.3(BTK):c.589-12C>T
NM_000061.3(BTK):c.589-13C>T
NM_000061.3(BTK):c.589-17T>C
NM_000061.3(BTK):c.589-4A>G
NM_000061.3(BTK):c.593T>C (p.Leu198Ser)
NM_000061.3(BTK):c.595A>T (p.Lys199Ter) rs2147433246
NM_000061.3(BTK):c.608C>T (p.Pro203Leu)
NM_000061.3(BTK):c.60A>G (p.Thr20=)
NM_000061.3(BTK):c.624A>C (p.Ala208=)
NM_000061.3(BTK):c.62C>A (p.Ser21Ter) rs2147448284
NM_000061.3(BTK):c.633C>T (p.Val211=)
NM_000061.3(BTK):c.639A>C (p.Thr213=)
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
NM_000061.3(BTK):c.680del (p.Pro227fs) rs1603008449
NM_000061.3(BTK):c.694G>T (p.Asp232Tyr)
NM_000061.3(BTK):c.696T>C (p.Asp232=)
NM_000061.3(BTK):c.706C>T (p.Arg236Trp)
NM_000061.3(BTK):c.717T>A (p.Asp239Glu)
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.754del (p.Trp252fs)
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.756G>A (p.Trp252Ter) rs1603008349
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.776+16C>T
NM_000061.3(BTK):c.776+2T>C
NM_000061.3(BTK):c.777-16A>G
NM_000061.3(BTK):c.777-17C>A
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.777-9C>G
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
NM_000061.3(BTK):c.77A>G (p.Lys26Arg) rs2147448262
NM_000061.3(BTK):c.804T>C (p.Tyr268=)
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815
NM_000061.3(BTK):c.839+19G>A
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.839+4_839+7del
NM_000061.3(BTK):c.839+5G>T
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.83G>T (p.Arg28Leu) rs128620185
NM_000061.3(BTK):c.840-17G>T
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.840-3C>G
NM_000061.3(BTK):c.840-8C>T
NM_000061.3(BTK):c.846T>C (p.Tyr282=) rs1603007231
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.861T>C (p.Thr287=)
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) rs1926588297
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
NM_000061.3(BTK):c.879A>G (p.Gln293=)
NM_000061.3(BTK):c.881T>C (p.Leu294Pro)
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) rs1926588125
NM_000061.3(BTK):c.885A>C (p.Leu295=) rs2041331171
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+1G>A rs1064793859
NM_000061.3(BTK):c.894+1G>C
NM_000061.3(BTK):c.894+2dup rs2147430924
NM_000061.3(BTK):c.894+7G>A rs886044875
NM_000061.3(BTK):c.894+9G>A
NM_000061.3(BTK):c.895-11C>T
NM_000061.3(BTK):c.895-12T>C rs1926564625
NM_000061.3(BTK):c.895-13T>C
NM_000061.3(BTK):c.895-1G>T rs1926563964
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.895-2A>T
NM_000061.3(BTK):c.895-37_928del rs1926563302
NM_000061.3(BTK):c.895-7G>T
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
NM_000061.3(BTK):c.934G>C (p.Ala312Pro) rs1926563146
NM_000061.3(BTK):c.941A>G (p.Lys314Arg) rs1386621585
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
NM_000061.3(BTK):c.974+17C>T
NM_000061.3(BTK):c.974+18A>G
NM_000061.3(BTK):c.974+19A>G
NM_000061.3(BTK):c.974+1G>A
NM_000061.3(BTK):c.974+5G>C rs2147430161
NM_000061.3(BTK):c.975-19T>G
NM_000061.3(BTK):c.975-1G>T rs2147429973
NM_000061.3(BTK):c.975-4T>G
NM_000061.3(BTK):c.975-7T>C
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
NM_000061.3(BTK):c.980C>T (p.Pro327Leu) rs1926556967
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
NM_000061.3(BTK):c.998A>C (p.His333Pro)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000061.3(BTK):c.99C>G (p.Thr33=)
NM_000061.3(BTK):c.99C>T (p.Thr33=)
NM_000193.4(SHH):c.562+1G>A
NM_000216.4(ANOS1):c.1022_1023del (p.Leu341fs)
NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)
NM_000216.4(ANOS1):c.1055C>T (p.Thr352Met)
NM_000216.4(ANOS1):c.1056G>A (p.Thr352=)
NM_000216.4(ANOS1):c.1062+1G>C
NM_000216.4(ANOS1):c.1062+1G>T rs387906427
NM_000216.4(ANOS1):c.1062+5G>A rs2146807050
NM_000216.4(ANOS1):c.1063-16T>C
NM_000216.4(ANOS1):c.1063-1G>C rs2146805381
NM_000216.4(ANOS1):c.109G>A (p.Glu37Lys)
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) rs1555904591
NM_000216.4(ANOS1):c.1100A>G (p.Asp367Gly)
NM_000216.4(ANOS1):c.1112T>C (p.Val371Ala)
NM_000216.4(ANOS1):c.1134G>A (p.Thr378=)
NM_000216.4(ANOS1):c.1137C>G (p.Tyr379Ter)
NM_000216.4(ANOS1):c.1142del (p.Gly381fs)
NM_000216.4(ANOS1):c.1150C>T (p.Arg384Trp)
NM_000216.4(ANOS1):c.1208-20A>G
NM_000216.4(ANOS1):c.1210G>A (p.Glu404Lys)
NM_000216.4(ANOS1):c.1243C>A (p.Gln415Lys)
NM_000216.4(ANOS1):c.1249C>T (p.Gln417Ter) rs2146796828
NM_000216.4(ANOS1):c.1250A>G (p.Gln417Arg)
NM_000216.4(ANOS1):c.125G>A (p.Gly42Glu)
NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter) rs1555893221
NM_000216.4(ANOS1):c.1293C>T (p.Val431=)
NM_000216.4(ANOS1):c.1307A>G (p.Tyr436Cys)
NM_000216.4(ANOS1):c.130G>A (p.Val44Ile)
NM_000216.4(ANOS1):c.1311G>A (p.Gln437=) rs2146796763
NM_000216.4(ANOS1):c.1345A>C (p.Lys449Gln)
NM_000216.4(ANOS1):c.1354+19_1354+22del rs201866844
NM_000216.4(ANOS1):c.1354+1del rs764687970
NM_000216.4(ANOS1):c.1354G>A (p.Asp452Asn)
NM_000216.4(ANOS1):c.1355-1G>T
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000216.4(ANOS1):c.136C>A (p.Arg46Ser)
NM_000216.4(ANOS1):c.1370G>A (p.Arg457Gln)
NM_000216.4(ANOS1):c.139G>T (p.Ala47Ser)
NM_000216.4(ANOS1):c.1449+1G>A rs1601946139
NM_000216.4(ANOS1):c.1449+1G>T
NM_000216.4(ANOS1):c.1449+2del rs397518425
NM_000216.4(ANOS1):c.1449+8C>A
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) rs1057520209
NM_000216.4(ANOS1):c.148G>A (p.Ala50Thr)
NM_000216.4(ANOS1):c.1499_1500del (p.Val500fs)
NM_000216.4(ANOS1):c.1505T>C (p.Val502Ala)
NM_000216.4(ANOS1):c.1511C>T (p.Pro504Leu)
NM_000216.4(ANOS1):c.1516C>T (p.Arg506Trp)
NM_000216.4(ANOS1):c.1539del (p.Glu514fs) rs1929603954
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys) rs137852515
NM_000216.4(ANOS1):c.157T>C (p.Cys53Arg)
NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr) rs1555904582
NM_000216.4(ANOS1):c.1598C>T (p.Pro533Leu)
NM_000216.4(ANOS1):c.1615G>A (p.Glu539Lys)
NM_000216.4(ANOS1):c.1621+12C>A
NM_000216.4(ANOS1):c.164G>A (p.Ser55Asn)
NM_000216.4(ANOS1):c.1673T>C (p.Phe558Ser)
NM_000216.4(ANOS1):c.1698C>T (p.Thr566=)
NM_000216.4(ANOS1):c.1699G>C (p.Gly567Arg)
NM_000216.4(ANOS1):c.16C>T (p.Pro6Ser)
NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)
NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs) rs1932981715
NM_000216.4(ANOS1):c.171_181del (p.Gln57fs) rs2146919128
NM_000216.4(ANOS1):c.1736A>G (p.Tyr579Cys)
NM_000216.4(ANOS1):c.1743C>T (p.Pro581=)
NM_000216.4(ANOS1):c.1744A>G (p.Met582Val)
NM_000216.4(ANOS1):c.1756C>T (p.Gln586Ter) rs2146786666
NM_000216.4(ANOS1):c.1766G>A (p.Trp589Ter) rs2146786648
NM_000216.4(ANOS1):c.1777_1778dup (p.Thr594fs)
NM_000216.4(ANOS1):c.1783del (p.Glu595fs)
NM_000216.4(ANOS1):c.1823A>T (p.Gln608Leu)
NM_000216.4(ANOS1):c.1828del (p.Gln610fs)
NM_000216.4(ANOS1):c.1842+412_*1083del
NM_000216.4(ANOS1):c.1843-1G>C
NM_000216.4(ANOS1):c.1852G>A (p.Val618Ile)
NM_000216.4(ANOS1):c.1862dup (p.Pro622fs) rs2146785809
NM_000216.4(ANOS1):c.1868A>G (p.Asn623Ser)
NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg) rs1929555187
NM_000216.4(ANOS1):c.1890_1891delinsTT (p.Arg631Ter) rs2146785767
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) rs1057519418
NM_000216.4(ANOS1):c.1908G>A (p.Val636=) rs1929553838
NM_000216.4(ANOS1):c.1921G>C (p.Gly641Arg)
NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)
NM_000216.4(ANOS1):c.1948delinsCG (p.Phe650fs)
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys) rs776867068
NM_000216.4(ANOS1):c.197del (p.Gln66fs)
NM_000216.4(ANOS1):c.1984+13C>T
NM_000216.4(ANOS1):c.1A>G (p.Met1Val) rs606231409
NM_000216.4(ANOS1):c.1A>T (p.Met1Leu) rs606231409
NM_000216.4(ANOS1):c.2020A>G (p.Lys674Glu)
NM_000216.4(ANOS1):c.2039A>G (p.Tyr680Cys) rs2146784839
NM_000216.4(ANOS1):c.203del (p.Phe68fs) rs2146919105
NM_000216.4(ANOS1):c.207+16del
NM_000216.4(ANOS1):c.207+17G>T
NM_000216.4(ANOS1):c.207G>C (p.Gln69His)
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs) rs1602050730
NM_000216.4(ANOS1):c.257G>A (p.Cys86Tyr)
NM_000216.4(ANOS1):c.25G>A (p.Val9Ile)
NM_000216.4(ANOS1):c.298C>A (p.Gln100Lys)
NM_000216.4(ANOS1):c.313del (p.Cys105fs) rs1601988004
NM_000216.4(ANOS1):c.318+1G>C rs2146846673
NM_000216.4(ANOS1):c.318+3del rs2146846669
NM_000216.4(ANOS1):c.319-11C>A
NM_000216.4(ANOS1):c.319-20A>T
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg) rs1930756318
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs) rs1057520210
NM_000216.4(ANOS1):c.372A>G (p.Lys124=)
NM_000216.4(ANOS1):c.379C>T (p.Leu127=)
NM_000216.4(ANOS1):c.397G>A (p.Asp133Asn)
NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) rs932845258
NM_000216.4(ANOS1):c.431C>T (p.Ala144Val)
NM_000216.4(ANOS1):c.46C>T (p.Leu16=)
NM_000216.4(ANOS1):c.486A>C (p.Lys162Asn)
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser) rs1930749813
NM_000216.4(ANOS1):c.520G>A (p.Val174Ile)
NM_000216.4(ANOS1):c.532_533del (p.Leu178fs)
NM_000216.4(ANOS1):c.544_726+2del rs2146819139
NM_000216.4(ANOS1):c.545T>A (p.Val182Asp)
NM_000216.4(ANOS1):c.571C>G (p.Arg191Gly)
NM_000216.4(ANOS1):c.571C>T (p.Arg191Ter) rs371599938
NM_000216.4(ANOS1):c.586C>T (p.Gln196Ter) rs2146819334
NM_000216.4(ANOS1):c.626A>G (p.Asn209Ser)
NM_000216.4(ANOS1):c.655G>A (p.Val219Ile)
NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs) rs2146919339
NM_000216.4(ANOS1):c.690C>G (p.Ser230Arg)
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter) rs137852512
NM_000216.4(ANOS1):c.726+13T>A
NM_000216.4(ANOS1):c.739C>T (p.Arg247Ter)
NM_000216.4(ANOS1):c.745del (p.Gln249fs)
NM_000216.4(ANOS1):c.74_125dup (p.Ser43fs)
NM_000216.4(ANOS1):c.754G>A (p.Asp252Asn)
NM_000216.4(ANOS1):c.755A>T (p.Asp252Val)
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) rs137852513
NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter) rs1601965037
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter) rs137852514
NM_000216.4(ANOS1):c.774del (p.Trp258fs) rs2146817170
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter) rs137852516
NM_000216.4(ANOS1):c.785G>A (p.Arg262Gln)
NM_000216.4(ANOS1):c.814C>T (p.Arg272Ter) rs1930491968
NM_000216.4(ANOS1):c.831del (p.Ser278fs) rs2146817110
NM_000216.4(ANOS1):c.834_835del (p.Ser278fs)
NM_000216.4(ANOS1):c.83G>A (p.Gly28Asp)
NM_000216.4(ANOS1):c.844del (p.Arg282fs) rs2146817108
NM_000216.4(ANOS1):c.850T>C (p.Ser284Pro)
NM_000216.4(ANOS1):c.852del (p.Asp286fs)
NM_000216.4(ANOS1):c.857-10G>A rs1428532575
NM_000216.4(ANOS1):c.857-10G>T
NM_000216.4(ANOS1):c.871C>A (p.Pro291Thr)
NM_000216.4(ANOS1):c.874G>A (p.Ala292Thr) rs2146807313
NM_000216.4(ANOS1):c.878C>T (p.Pro293Leu)
NM_000216.4(ANOS1):c.92C>T (p.Ala31Val)
NM_000216.4(ANOS1):c.937A>G (p.Ile313Val)
NM_000216.4(ANOS1):c.938T>C (p.Ile313Thr)
NM_000216.4(ANOS1):c.95_105dup (p.Asp36fs) rs2146919315
NM_000216.4(ANOS1):c.963G>A (p.Pro321=)
NM_000216.4(ANOS1):c.964del (p.Asp322fs)
NM_000216.4(ANOS1):c.982T>C (p.Tyr328His)
NM_000216.4(ANOS1):c.996G>C (p.Trp332Cys)
NM_000230.3(LEP):c.*1422A>T rs1795337523
NM_000230.3(LEP):c.*1720A>G rs10954174
NM_000230.3(LEP):c.*2234G>A rs886061977
NM_000230.3(LEP):c.*2263G>A rs1795349651
NM_000230.3(LEP):c.*2267A>C rs886061978
NM_000230.3(LEP):c.*2410G>A rs28959474
NM_000230.3(LEP):c.*2437C>T rs536449594
NM_000230.3(LEP):c.*2527G>T rs886061979
NM_000230.3(LEP):c.*2579G>A rs200738664
NM_000230.3(LEP):c.*2595C>A rs28959475
NM_000230.3(LEP):c.*2595C>T rs28959475
NM_000230.3(LEP):c.*2819_*2822dup rs56247456
NM_000230.3(LEP):c.*2820_*2822dup rs56247456
NM_000230.3(LEP):c.*2822dup rs56247456
NM_000230.3(LEP):c.*422G>C rs886061975
NM_000230.3(LEP):c.*750G>C rs977939827
NM_000230.3(LEP):c.*785A>G rs114834517
NM_000230.3(LEP):c.*962T>G rs1795330798
NM_000230.3(LEP):c.-14T>G rs1795280375
NM_000230.3(LEP):c.175G>A (p.Gly59Ser) rs200575914
NM_000230.3(LEP):c.181G>A (p.Asp61Asn) rs886061972
NM_000230.3(LEP):c.190C>T (p.Pro64Ser)
NM_000230.3(LEP):c.313C>T (p.Arg105Trp) rs104894023
NM_000230.3(LEP):c.398del (p.Gly133fs)
NM_000230.3(LEP):c.436G>T (p.Ala146Ser) rs1795315989
NM_000230.3(LEP):c.461T>C (p.Leu154Pro) rs1554394014
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000306.4(POU1F1):c.-105T>C rs886058915
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000306.4(POU1F1):c.143-66T>G rs2106940833
NM_000306.4(POU1F1):c.143-68T>A rs2106940845
NM_000306.4(POU1F1):c.143-69T>G rs2106940848
NM_000306.4(POU1F1):c.143-71T>G rs2106940851
NM_000306.4(POU1F1):c.143-73T>G rs2106940853
NM_000306.4(POU1F1):c.143-83A>G
NM_000306.4(POU1F1):c.215-3C>G rs754584667
NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys) rs104893761
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln) rs104893759
NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter) rs104893763
NM_000306.4(POU1F1):c.439+12T>C rs780655005
NM_000306.4(POU1F1):c.486C>T (p.Gly162=) rs1706526416
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter) rs104893754
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg) rs104893766
NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg) rs104893758
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr) rs2106927025
NM_000306.4(POU1F1):c.665+1G>T rs515726221
NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser) rs104893762
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu) rs104893757
NM_000306.4(POU1F1):c.747del (p.Glu250fs) rs587776798
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter) rs104893760
NM_000306.4(POU1F1):c.775dup (p.Arg259fs) rs587776799
NM_000306.4(POU1F1):c.793C>T (p.Arg265Trp)
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) rs104893755
NM_000329.3(RPE65):c.110G>C (p.Trp37Ser) rs1557603965
NM_000329.3(RPE65):c.203A>C (p.His68Pro) rs1557603862
NM_000329.3(RPE65):c.722A>G (p.His241Arg) rs1557600322
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000406.2(GNRHR):c.-1319C>T rs886059578
NM_000406.2(GNRHR):c.-1434A>T rs542889610
NM_000406.2(GNRHR):c.-1464G>A rs1731958615
NM_000406.2(GNRHR):c.-1701A>C rs546717493
NM_000406.2(GNRHR):c.-576G>T rs886059569
NM_000406.2(GNRHR):c.-699T>C rs1731942957
NM_000406.2(GNRHR):c.-877C>A rs886059572
NM_000406.2(GNRHR):c.-927C>T rs886059574
NM_000406.2(GNRHR):c.-962G>A rs886059575
NM_000406.2(GNRHR):c.[416G>A];[806C>T]
NM_000406.3(GNRHR):c.*1144A>G rs886059562
NM_000406.3(GNRHR):c.*1248A>C rs886059560
NM_000406.3(GNRHR):c.*1302G>C rs555225443
NM_000406.3(GNRHR):c.*1984T>C rs886059557
NM_000406.3(GNRHR):c.*2244T>C rs1231172432
NM_000406.3(GNRHR):c.*2328A>T rs781061386
NM_000406.3(GNRHR):c.*2772A>G rs1731573809
NM_000406.3(GNRHR):c.*349A>C rs886059565
NM_000406.3(GNRHR):c.*466T>G rs1731627479
NM_000406.3(GNRHR):c.*474T>C rs1731627299
NM_000406.3(GNRHR):c.*730T>C rs566465436
NM_000406.3(GNRHR):c.*819A>T rs886059564
NM_000406.3(GNRHR):c.*832T>C rs886059563
NM_000406.3(GNRHR):c.113dup (p.Val39fs)
NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg) rs764414922
NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg) rs1731924174
NM_000406.3(GNRHR):c.351_352del (p.Ser118fs)
NM_000406.3(GNRHR):c.35del (p.Asn12fs)
NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) rs104893838
NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) rs606231406
NM_000406.3(GNRHR):c.465C>T (p.Val155=) rs773986790
NM_000406.3(GNRHR):c.469C>T (p.Gln157Ter)
NM_000406.3(GNRHR):c.497T>C (p.Leu166Pro)
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) rs104893840
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) rs74452732
NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg)
NM_000406.3(GNRHR):c.523-1G>A rs797044452
NM_000406.3(GNRHR):c.583C>T (p.Gln195Ter)
NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) rs104893839
NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr) rs886059566
NM_000406.3(GNRHR):c.784C>T (p.Arg262Trp)
NM_000406.3(GNRHR):c.822T>G (p.Thr274=)
NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) rs515726220
NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu)
NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)
NM_000406.3(GNRHR):c.918CTT[2] (p.Phe309del)
NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) rs104893841
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) rs515726219
NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) rs104893847
NM_000439.5(PCSK1):c.*1097C>A rs867846512
NM_000439.5(PCSK1):c.*1164T>C rs886060882
NM_000439.5(PCSK1):c.*1232G>A rs373852338
NM_000439.5(PCSK1):c.*1372C>G rs764110111
NM_000439.5(PCSK1):c.*1414A>C rs886060879
NM_000439.5(PCSK1):c.*1854T>A rs886060877
NM_000439.5(PCSK1):c.*1967C>T rs41276267
NM_000439.5(PCSK1):c.*2115G>A rs147244631
NM_000439.5(PCSK1):c.*2166C>T rs886060875
NM_000439.5(PCSK1):c.*245G>T rs1759988394
NM_000439.5(PCSK1):c.*737_*739dup rs5869716
NM_000439.5(PCSK1):c.*826del rs34572181
NM_000439.5(PCSK1):c.-137A>G rs886060889
NM_000439.5(PCSK1):c.-147C>G rs886060890
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000439.5(PCSK1):c.1024del (p.Trp342fs)
NM_000439.5(PCSK1):c.1095+1G>A
NM_000439.5(PCSK1):c.1095+1G>T
NM_000439.5(PCSK1):c.1213C>T (p.Arg405Ter)
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) rs2112399256
NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln) rs771457696
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) rs1580746829
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
NM_000439.5(PCSK1):c.1430+7A>G
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) rs137852821
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) rs1580744791
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) rs1580744780
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) rs1760081033
NM_000439.5(PCSK1):c.1884+11C>T rs1389335567
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) rs1760001769
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) rs886060887
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter) rs765019354
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)
NM_000439.5(PCSK1):c.620+4A>C rs1580764441
NM_000439.5(PCSK1):c.621-8A>G
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) rs137852823
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) rs150991567
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) rs137852822
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr)
NM_000439.5(PCSK1):c.818del (p.Asp273fs)
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)
NM_000439.5(PCSK1):c.928G>A (p.Gly310Arg)
NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) rs1580755294
NM_000439.5(PCSK1):c.958dup (p.Asp320fs) rs2112419752
NM_000475.5(NR0B1):c.0_1168+260del
NM_000475.5(NR0B1):c.1004C>A (p.Pro335His)
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.1034C>A (p.Pro345Gln)
NM_000475.5(NR0B1):c.1037_1038insA (p.Ala347fs)
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1067C>T (p.Ser356Phe)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1099_1100insT (p.Lys367fs)
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) rs1555972957
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-112_*17delinsTG rs1555972632
NM_000475.5(NR0B1):c.1169-1G>A rs1555972666
NM_000475.5(NR0B1):c.1169-1G>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) rs1569269179
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1234A>G (p.Ser412Gly)
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) rs1555972655
NM_000475.5(NR0B1):c.1235G>A (p.Ser412Asn)
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile) rs387907373
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1284A>T (p.Glu428Asp)
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1314C>T (p.Phe438=)
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1326T>C (p.Asn442=)
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.5(NR0B1):c.1346T>C (p.Phe449Ser)
NM_000475.5(NR0B1):c.1349G>A (p.Arg450Lys)
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) rs1555972640
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) rs1926485824
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) rs2147007424
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.184dup (p.Leu62fs)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.215_218dup (p.His73fs) rs1926599738
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.257G>A (p.Ser86Asn)
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.274G>C (p.Ala92Pro)
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.277del (p.Ala93fs) rs1555973189
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.308C>T (p.Pro103Leu)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) rs132630327
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.343G>T (p.Val115Leu)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.382C>G (p.Leu128Val)
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.434T>C (p.Ile145Thr)
NM_000475.5(NR0B1):c.444C>T (p.Ser148=)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.494C>A (p.Ala165Glu)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) rs1555973132
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.543del (p.Gly183fs) rs1555973120
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) rs1555973119
NM_000475.5(NR0B1):c.548G>A (p.Gly183Asp)
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) rs1555973117
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) rs1555973115
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.564_567dup (p.Gly190fs)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.603_604del (p.Phe201fs)
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) rs1555973091
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.650C>G (p.Pro217Arg)
NM_000475.5(NR0B1):c.652dup (p.Thr218fs) rs1555973092
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.686A>G (p.Glu229Gly)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.754del (p.Gln252fs) rs1555973063
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) rs1311271225
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) rs1555973058
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.781G>A (p.Gly261Ser)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.5(NR0B1):c.793A>G (p.Thr265Ala)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.805G>C (p.Val269Leu)
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) rs1555973045
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) rs753734546
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.835C>T (p.Pro279Ser)
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) rs1555973031
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) rs1601792367
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) rs1555973021
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) rs1489209061
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.900C>T (p.Ala300=)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.919G>C (p.Glu307Gln)
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs) rs1926565907
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_000510.2(FSHB):c.-280G>T rs10835638
NM_000510.3(FSHB):c.*1430T>C rs1852066518
NM_000515.4(GH1):c.-68A>G rs6171
NM_000515.5(GH1):c.-63A>C rs695
NM_000515.5(GH1):c.-63A>T rs695
NM_000515.5(GH1):c.11-8C>T
NM_000515.5(GH1):c.131A>C (p.His44Pro) rs754126557
NM_000515.5(GH1):c.172-2A>T rs863223309
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) rs2144739391
NM_000515.5(GH1):c.173A>C (p.Glu58Ala) rs2144739380
NM_000515.5(GH1):c.176A>G (p.Glu59Gly) rs2144739370
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) rs1907477324
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) rs137853222
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
NM_000515.5(GH1):c.254C>T (p.Pro85Leu) rs1567803095
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.291+1G>C rs71640277
NM_000515.5(GH1):c.291+28G>A rs863223306
NM_000515.5(GH1):c.291+29_291+46del rs2144738731
NM_000515.5(GH1):c.291+2T>C rs863223310
NM_000515.5(GH1):c.291+5G>A rs863223307
NM_000515.5(GH1):c.291+6T>C rs797044450
NM_000515.5(GH1):c.292-37_292-16del
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) rs1907452711
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) rs137853220
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
NM_000515.5(GH1):c.346G>A (p.Val116Met)
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) rs137853221
NM_000515.5(GH1):c.452T>C (p.Met151Thr) rs1180054712
NM_000515.5(GH1):c.456+19G>T rs61735351
NM_000515.5(GH1):c.456+1G>C rs797044449
NM_000515.5(GH1):c.456+1G>T rs797044449
NM_000515.5(GH1):c.456+5G>C rs863223308
NM_000515.5(GH1):c.47_55del (p.Leu16_Leu18del)
NM_000515.5(GH1):c.52del (p.Leu18fs)
NM_000515.5(GH1):c.588G>A (p.Met196Ile) rs1907385621
NM_000515.5(GH1):c.595G>C (p.Val199Leu)
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_000515.5(GH1):c.640_648del (p.Ser214_Gly216del)
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000823.4(GHRHR):c.1120_1123del (p.Ile374fs)
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) rs28371562
NM_000823.4(GHRHR):c.1250del (p.Lys417fs) rs771060895
NM_000823.4(GHRHR):c.174C>A (p.Thr58=) rs540740642
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) rs775025721
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)
NM_000823.4(GHRHR):c.279A>G (p.Lys93=) rs1792444704
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_000823.4(GHRHR):c.465-1G>A
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) rs147098353
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) rs570281194
NM_000823.4(GHRHR):c.558_559insA (p.Phe187fs)
NM_000823.4(GHRHR):c.57+1G>T rs2302022
NM_000823.4(GHRHR):c.640A>G (p.Met214Val) rs535947130
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu) rs121918120
NM_000823.4(GHRHR):c.812+2_812+3del
NM_000823.4(GHRHR):c.847T>C (p.Trp283Arg)
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) rs527387367
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter) rs2128598609
NM_000823.4(GHRHR):c.974+15T>G rs1792566990
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu) rs121918121
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
NM_000825.3(GNRH1):c.-1198G>A rs1801818194
NM_000825.3(GNRH1):c.-1624G>A rs1045519607
NM_000894.3(LHB):c.183+1G>C rs786204822
NM_000894.3(LHB):c.183+1G>T rs786204822
NM_000894.3(LHB):c.221A>G (p.Gln74Arg) rs5030773
NM_000894.3(LHB):c.28_39del (p.Leu10_Leu13del) rs769066903
NM_000894.3(LHB):c.88_96del (p.His30_Ile32del) rs786204823
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) rs281865427
NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs)
NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs)
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001059.3(TACR3):c.*202G>C rs886058970
NM_001059.3(TACR3):c.*94T>G rs1723845345
NM_001059.3(TACR3):c.-20G>C rs201377092
NM_001059.3(TACR3):c.-86C>A rs886058978
NM_001059.3(TACR3):c.-93A>G rs1723174170
NM_001059.3(TACR3):c.1003C>T (p.Gln335Ter)
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) rs121918125
NM_001059.3(TACR3):c.1188G>A (p.Arg396=) rs886058974
NM_001059.3(TACR3):c.1225A>G (p.Met409Val) rs201828791
NM_001059.3(TACR3):c.1230A>T (p.Thr410=) rs886058973
NM_001059.3(TACR3):c.1311T>C (p.Asn437=) rs886058972
NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr) rs17033889
NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser) rs17033889
NM_001059.3(TACR3):c.138C>T (p.Asp46=) rs181951458
NM_001059.3(TACR3):c.548+2T>A rs772508077
NM_001059.3(TACR3):c.703G>A (p.Val235Met) rs886058976
NM_001059.3(TACR3):c.766T>C (p.Tyr256His) rs397515483
NM_001059.3(TACR3):c.947A>G (p.His316Arg)
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Arg121_Asp122insAlaArgHisArg) rs1592047560
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001083111.2(GNRH1):c.18dup (p.Leu7fs) rs587777758
NM_001083111.2(GNRH1):c.210T>A (p.Ser70=) rs1801773599
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001126128.2(PROK2):c.96+2T>C
NM_001127496.3(SPRY4):c.278G>A (p.Ser93Asn)
NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile) rs587776981
NM_001130969.3(NSMF):c.1132-22_1132-15del rs751029049
NM_001130969.3(NSMF):c.1132-23_1132-15del rs606231136
NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe) rs1588492186
NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala) rs121918340
NM_001130969.3(NSMF):c.194C>A (p.Pro65His)
NM_001130969.3(NSMF):c.383G>A (p.Arg128Gln)
NM_001130969.3(NSMF):c.919G>C (p.Asp307His)
NM_001166114.2(PNPLA6):c.1243dup (p.Asp415fs) rs587777853
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001166114.2(PNPLA6):c.1655A>C (p.Gln552Pro)
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp) rs587777615
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) rs2023576110
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
NM_001166114.2(PNPLA6):c.2185-1G>C rs606231249
NM_001166114.2(PNPLA6):c.2237A>C (p.Gln746Pro) rs2146091582
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.2993A>G (p.Asp998Gly) rs2023847365
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile) rs587777181
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val) rs121434415
NM_001166114.2(PNPLA6):c.3167T>C (p.Phe1056Ser) rs587777183
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu) rs748506175
NM_001166114.2(PNPLA6):c.3358C>T (p.His1120Tyr) rs2023921392
NM_001166114.2(PNPLA6):c.3832A>G (p.Ser1278Gly) rs2146122850
NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs) rs2146123001
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) rs1590746439
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001370959.1(POU6F2):c.1093G>C (p.Val365Leu)
NM_001370959.1(POU6F2):c.1310C>T (p.Pro437Leu)
NM_001370959.1(POU6F2):c.1420C>T (p.Arg474Trp)
NM_001370959.1(POU6F2):c.1567C>T (p.Arg523Trp)
NM_001370959.1(POU6F2):c.1888G>A (p.Gly630Arg)
NM_001370959.1(POU6F2):c.1972A>C (p.Asn658His) rs145961110
NM_001370959.1(POU6F2):c.308C>T (p.Pro103Leu) rs373840004
NM_001370959.1(POU6F2):c.362G>A (p.Gly121Glu)
NM_001370959.1(POU6F2):c.440A>G (p.Asn147Ser)
NM_001370959.1(POU6F2):c.947C>A (p.Pro316Gln)
NM_001378457.1(DMXL2):c.1478G>A (p.Arg493Gln)
NM_001378457.1(DMXL2):c.2114A>C (p.Gln705Pro)
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile) rs2043456849
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln) rs1438220307
NM_001378457.1(DMXL2):c.5393G>A (p.Arg1798His)
NM_001378457.1(DMXL2):c.5492A>G (p.Lys1831Arg)
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro)
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7520+35del rs10706765
NM_001378457.1(DMXL2):c.7699G>A (p.Gly2567Ser)
NM_001378457.1(DMXL2):c.7809-6del rs746074258
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr) rs2039022160
NM_001382289.1(FSHB):c.*610C>T rs1852054247
NM_001382289.1(FSHB):c.*872C>T rs552570330
NM_001382289.1(FSHB):c.-38+2T>C rs886048178
NM_001382289.1(FSHB):c.-66C>G rs755811230
NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly) rs5030776
NM_001382289.1(FSHB):c.236_237del (p.Val79fs) rs5030646
NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu) rs1044572003
NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter) rs121909666
NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg) rs5030777
NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr)
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001873.4(CPE):c.1208dup (p.Ser404fs)
NM_001873.4(CPE):c.361C>T (p.Arg121Ter) rs1317332155
NM_001873.4(CPE):c.405C>A (p.Tyr135Ter) rs1298858763
NM_001873.4(CPE):c.505-3dup rs754217127
NM_001873.4(CPE):c.76_98del (p.Glu26fs) rs768504422
NM_001873.4(CPE):c.994del (p.Ser333fs) rs1579283609
NM_001946.4(DUSP6):c.117C>A (p.Cys39Ter) rs1879213059
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_002256.4(KISS1):c.339C>G (p.Asn113Lys) rs587777835
NM_002256.4(KISS1):c.345C>G (p.Asn115Lys)
NM_002303.5(LEPR):c.-186C>T rs1646225829
NM_002303.6(LEPR):c.*112T>C rs886046506
NM_002303.6(LEPR):c.*188A>C rs886046507
NM_002303.6(LEPR):c.*201C>T rs577287309
NM_002303.6(LEPR):c.*346CA[8] rs10552268
NM_002303.6(LEPR):c.*48G>C rs987448071
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) rs1364613256
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) rs757358893
NM_002303.6(LEPR):c.1341C>T (p.Cys447=) rs1656463888
NM_002303.6(LEPR):c.1413T>A (p.Leu471=) rs1656724477
NM_002303.6(LEPR):c.1752+1G>A
NM_002303.6(LEPR):c.1967dup (p.Glu657fs)
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu) rs746887338
NM_002303.6(LEPR):c.2597+1G>A rs1474810899
NM_002303.6(LEPR):c.260T>C (p.Phe87Ser) rs891183270
NM_002303.6(LEPR):c.2970C>G (p.Ile990Met) rs751719702
NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met) rs886046505
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) rs1553174844
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.421A>G (p.Ile141Val)
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) rs1557670950
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.716C>T (p.Pro239Leu) rs886046504
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) rs996361966
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_002487.3(NDN):c.871C>A (p.Pro291Thr) rs2140756886
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser) rs1229827011
NM_002941.4(ROBO1):c.2440_2442+4del
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003108.4(SOX11):c.1001C>T (p.Ala334Val)
NM_003108.4(SOX11):c.1032_1044del (p.Ser345fs)
NM_003108.4(SOX11):c.1041C>G (p.Ser347Arg)
NM_003108.4(SOX11):c.251G>A (p.Gly84Asp)
NM_003108.4(SOX11):c.299G>A (p.Arg100Gln)
NM_003108.4(SOX11):c.340C>T (p.Pro114Ser)
NM_003108.4(SOX11):c.483G>T (p.Lys161Asn)
NM_003108.4(SOX11):c.588C>A (p.Asp196Glu) rs544581532
NM_003108.4(SOX11):c.595G>C (p.Val199Leu)
NM_003108.4(SOX11):c.623C>T (p.Ser208Leu)
NM_003108.4(SOX11):c.629G>T (p.Gly210Val)
NM_003108.4(SOX11):c.647C>T (p.Thr216Met)
NM_003108.4(SOX11):c.658G>A (p.Val220Met)
NM_003108.4(SOX11):c.732C>G (p.Asp244Glu)
NM_003108.4(SOX11):c.809A>G (p.Tyr270Cys)
NM_003108.4(SOX11):c.908C>A (p.Ser303Ter)
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003865.2(HESX1):c.-203_-200delAATT rs886058754
NM_003865.2(HESX1):c.-245delT rs886058755
NM_003865.3(HESX1):c.*192T>A rs886058753
NM_003865.3(HESX1):c.102C>T (p.Asp34=)
NM_003865.3(HESX1):c.105T>C (p.Cys35=)
NM_003865.3(HESX1):c.131C>T (p.Pro44Leu)
NM_003865.3(HESX1):c.135G>A (p.Trp45Ter) rs2107565760
NM_003865.3(HESX1):c.150C>T (p.Ser50=) rs1299316380
NM_003865.3(HESX1):c.157+19G>T
NM_003865.3(HESX1):c.157+5G>A
NM_003865.3(HESX1):c.158-1G>C rs1238248024
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu) rs756899311
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn) rs2060466182
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr) rs2060466182
NM_003865.3(HESX1):c.173del (p.Leu58fs) rs2060466023
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr) rs141863326
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)
NM_003865.3(HESX1):c.219C>T (p.Ser73=)
NM_003865.3(HESX1):c.224T>G (p.Val75Gly)
NM_003865.3(HESX1):c.241G>T (p.Glu81Ter)
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr)
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)
NM_003865.3(HESX1):c.303A>G (p.Arg101=)
NM_003865.3(HESX1):c.305A>T (p.Glu102Val)
NM_003865.3(HESX1):c.305_306del (p.Glu102fs)
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs) rs748460226
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)
NM_003865.3(HESX1):c.318T>C (p.Tyr106=)
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
NM_003865.3(HESX1):c.358-20T>C
NM_003865.3(HESX1):c.358-6del
NM_003865.3(HESX1):c.358-6dup
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu)
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly) rs2107564081
NM_003865.3(HESX1):c.389del (p.Asn130fs)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg) rs2107564014
NM_003865.3(HESX1):c.405C>G (p.Ile135Met) rs190201411
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)
NM_003865.3(HESX1):c.448G>T (p.Asp150Tyr)
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) rs1385826685
NM_003865.3(HESX1):c.450_451del (p.Asp150fs) rs587776664
NM_003865.3(HESX1):c.459+15T>C
NM_003865.3(HESX1):c.459+18T>C
NM_003865.3(HESX1):c.460-10T>A
NM_003865.3(HESX1):c.460-7A>G rs1579346889
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu)
NM_003865.3(HESX1):c.498C>T (p.Ser166=)
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu)
NM_003865.3(HESX1):c.525del (p.Asn178fs)
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)
NM_003865.3(HESX1):c.75A>G (p.Arg25=)
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr) rs28936416
NM_003867.4(FGF17):c.323T>C (p.Ile108Thr) rs398123024
NM_003867.4(FGF17):c.560A>G (p.Asn187Ser) rs398123026
NM_004186.5(SEMA3F):c.1954G>T (p.Ala652Ser) rs2109128819
NM_004186.5(SEMA3F):c.2165C>T (p.Pro722Leu) rs749838132
NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs)
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)
NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer)
NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs)
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)
NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs)
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)
NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu)
NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn)
NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln)
NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp)
NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr)
NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr)
NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys)
NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala)
NM_004491.5(ARHGAP35):c.516del (p.Asn173fs)
NM_004667.6(HERC2):c.11701-1G>A rs1891259083
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His) rs147436494
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu) rs200979099
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) rs3958533
NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn) rs1693560929
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425
NM_005121.3(MED13):c.1968-501_2181+590del
NM_005121.3(MED13):c.1968-866_2181+621del
NM_005121.3(MED13):c.1968-867_2181+479del
NM_005149.3(TBX19):c.*1109dup rs550552066
NM_005149.3(TBX19):c.*1325T>C rs886045520
NM_005149.3(TBX19):c.*243T>C rs886045515
NM_005149.3(TBX19):c.*30G>A rs778394368
NM_005149.3(TBX19):c.*363AG[1] rs886045516
NM_005149.3(TBX19):c.*587G>C rs1649574851
NM_005149.3(TBX19):c.*618CTC[1] rs780261050
NM_005149.3(TBX19):c.*695G>A rs891536291
NM_005149.3(TBX19):c.*922GAAA[5] rs67726248
NM_005149.3(TBX19):c.158_159del (p.Arg53fs) rs763818059
NM_005149.3(TBX19):c.194A>G (p.Lys65Arg) rs886045509
NM_005149.3(TBX19):c.257T>G (p.Met86Arg) rs74315378
NM_005149.3(TBX19):c.265del (p.Leu89fs) rs1558190339
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe) rs74315377
NM_005149.3(TBX19):c.403T>C (p.Trp135Arg) rs1648935336
NM_005149.3(TBX19):c.524G>T (p.Gly175Val) rs1648991442
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) rs1159356681
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter) rs1553289042
NM_005149.3(TBX19):c.603+10_603+11insTT rs373712384
NM_005149.3(TBX19):c.603+10_603+11insTTGT rs72294615
NM_005149.3(TBX19):c.603+10_603+11insTTGTGT rs746785887
NM_005149.3(TBX19):c.603+6_603+7insCTGTGT rs746838916
NM_005149.3(TBX19):c.603+7GT[17] rs57039241
NM_005149.3(TBX19):c.603+7GT[18] rs57039241
NM_005149.3(TBX19):c.603+7GT[19] rs57039241
NM_005149.3(TBX19):c.603+7GT[20] rs57039241
NM_005149.3(TBX19):c.603+7GT[22] rs57039241
NM_005149.3(TBX19):c.603+7GT[23] rs57039241
NM_005149.3(TBX19):c.603+7GT[24] rs57039241
NM_005149.3(TBX19):c.603+7GT[25] rs57039241
NM_005149.3(TBX19):c.604-1G>C
NM_005149.3(TBX19):c.617A>G (p.Lys206Arg)
NM_005149.3(TBX19):c.646_647delinsGC (p.Phe216Ala)
NM_005149.3(TBX19):c.665+1G>T rs1649150256
NM_005149.3(TBX19):c.665+1del rs1558192351
NM_005149.3(TBX19):c.666-2A>T
NM_005149.3(TBX19):c.727+1G>A
NM_005149.3(TBX19):c.779C>T (p.Ser260Phe) rs1215287541
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274
NM_005149.3(TBX19):c.932G>A (p.Ser311Asn) rs1649461770
NM_005599.3(NHLH2):c.235C>T (p.Arg79Cys) rs2101199164
NM_005599.3(NHLH2):c.25G>T (p.Ala9Ser) rs2101200238
NM_005599.3(NHLH2):c.26C>T (p.Ala9Val) rs2101200231
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del) rs1927349741
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)
NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)
NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs)
NM_006080.3(SEMA3A):c.1873G>A (p.Asp625Asn)
NM_006080.3(SEMA3A):c.333+2T>C
NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln) rs1404070020
NM_006080.3(SEMA3A):c.607C>T (p.Arg203Ter)
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter)
NM_006261.5(PROP1):c.*434T>A rs1772656639
NM_006261.5(PROP1):c.-260A>T rs886060476
NM_006261.5(PROP1):c.109+1G>A
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.112dup (p.Ser38fs)
NM_006261.5(PROP1):c.114delinsCACCGTTCTGCAGTGCTCTCTCCGTTCTGC (p.Ser39fs)
NM_006261.5(PROP1):c.129dup (p.Arg44fs) rs2113064591
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) rs1755702883
NM_006261.5(PROP1):c.150_151del (p.Gly52fs) rs587776681
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.152G>T (p.Gly51Val) rs2233783
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup) rs1554182643
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_006261.5(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) rs1554182481
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.5(PROP1):c.342+1G>A rs1436089021
NM_006261.5(PROP1):c.343-1G>A
NM_006261.5(PROP1):c.343-2A>T rs1057517041
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del) rs1554182637
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.5(PROP1):c.397C>T (p.Gln133Ter)
NM_006261.5(PROP1):c.3G>C (p.Met1Ile) rs1064797071
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006261.5(PROP1):c.51C>G (p.Val17=) rs760446926
NM_006261.5(PROP1):c.546del (p.Gly183fs)
NM_006261.5(PROP1):c.557del (p.Ala186fs) rs762529663
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.609C>T (p.Ala203=) rs751079956
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.618G>A (p.Leu206=) rs765098843
NM_006261.5(PROP1):c.623dup (p.Cys208fs) rs886060474
NM_006261.5(PROP1):c.629del (p.Pro210fs) rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.652dup (p.Ser218fs) rs1554182363
NM_006261.5(PROP1):c.66G>A (p.Leu22=) rs1582664807
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632
NM_006261.5(PROP1):c.95del (p.Pro32fs)
NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C]
NM_006715.4(MAN2C1):c.351+3G>A
NM_006941.4(SOX10):c.125_132del (p.Leu42fs) rs1601887036
NM_006941.4(SOX10):c.713C>T (p.Pro238Leu)
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs) rs1553437083
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1087A>C rs1558135886
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1340T>C rs1657714085
NM_012414.4(RAB3GAP2):c.*1560A>G rs1422943080
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2336T>G rs1049662170
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2386A>C rs1657684140
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.*417A>G rs576040740
NM_012414.4(RAB3GAP2):c.*509G>A rs1046907825
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp) rs1174986383
NM_012414.4(RAB3GAP2):c.1038C>A (p.Ala346=)
NM_012414.4(RAB3GAP2):c.103C>T (p.Arg35Trp)
NM_012414.4(RAB3GAP2):c.1040+7A>T
NM_012414.4(RAB3GAP2):c.1059A>G (p.Lys353=) rs371000771
NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)
NM_012414.4(RAB3GAP2):c.1078G>C (p.Ala360Pro)
NM_012414.4(RAB3GAP2):c.1083C>A (p.Val361=) rs2102871802
NM_012414.4(RAB3GAP2):c.1102G>A (p.Val368Ile)
NM_012414.4(RAB3GAP2):c.1105G>A (p.Glu369Lys) rs2102871785
NM_012414.4(RAB3GAP2):c.1125T>C (p.Ala375=)
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.1131-7A>C
NM_012414.4(RAB3GAP2):c.115+12T>C
NM_012414.4(RAB3GAP2):c.1151G>C (p.Arg384Thr)
NM_012414.4(RAB3GAP2):c.116-15T>C
NM_012414.4(RAB3GAP2):c.1183T>C (p.Cys395Arg) rs2102870921
NM_012414.4(RAB3GAP2):c.1194G>A (p.Leu398=)
NM_012414.4(RAB3GAP2):c.1216G>A (p.Gly406Ser)
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) rs1658659314
NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)
NM_012414.4(RAB3GAP2):c.1270+18C>G
NM_012414.4(RAB3GAP2):c.1272G>A (p.Gly424=)
NM_012414.4(RAB3GAP2):c.1275C>T (p.Tyr425=)
NM_012414.4(RAB3GAP2):c.1278C>T (p.Arg426=)
NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu) rs1658614059
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.1307T>C (p.Val436Ala)
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) rs1658613102
NM_012414.4(RAB3GAP2):c.1344T>C (p.Asp448=)
NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)
NM_012414.4(RAB3GAP2):c.1347T>C (p.Phe449=)
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
NM_012414.4(RAB3GAP2):c.1367A>G (p.Gln456Arg)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) rs1468198640
NM_012414.4(RAB3GAP2):c.1376G>A (p.Ser459Asn)
NM_012414.4(RAB3GAP2):c.1378C>A (p.Arg460=)
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) rs757551395
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)
NM_012414.4(RAB3GAP2):c.1431G>A (p.Val477=)
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)
NM_012414.4(RAB3GAP2):c.1446G>A (p.Gln482=)
NM_012414.4(RAB3GAP2):c.1463C>G (p.Ala488Gly) rs201655012
NM_012414.4(RAB3GAP2):c.1487+14G>A rs1658608277
NM_012414.4(RAB3GAP2):c.1487+16T>C
NM_012414.4(RAB3GAP2):c.1488-14T>C
NM_012414.4(RAB3GAP2):c.1488-15A>G
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) rs1658595836
NM_012414.4(RAB3GAP2):c.151G>A (p.Ala51Thr)
NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)
NM_012414.4(RAB3GAP2):c.154T>C (p.Trp52Arg)
NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) rs149563712
NM_012414.4(RAB3GAP2):c.1584G>T (p.Val528=) rs372216761
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1622T>C (p.Leu541Ser)
NM_012414.4(RAB3GAP2):c.1624G>T (p.Ala542Ser)
NM_012414.4(RAB3GAP2):c.1631+10G>A
NM_012414.4(RAB3GAP2):c.1631+14A>G
NM_012414.4(RAB3GAP2):c.1631+16T>C
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1631+6G>T
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) rs1374925013
NM_012414.4(RAB3GAP2):c.1667T>G (p.Leu556Arg)
NM_012414.4(RAB3GAP2):c.1687T>G (p.Leu563Val)
NM_012414.4(RAB3GAP2):c.1712T>A (p.Leu571His) rs2102869135
NM_012414.4(RAB3GAP2):c.1714+5G>A
NM_012414.4(RAB3GAP2):c.1715-12T>A
NM_012414.4(RAB3GAP2):c.1715-16del
NM_012414.4(RAB3GAP2):c.1715-18T>C
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_012414.4(RAB3GAP2):c.1715-20_1715-17del
NM_012414.4(RAB3GAP2):c.172C>A (p.Gln58Lys)
NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)
NM_012414.4(RAB3GAP2):c.1779+11A>G
NM_012414.4(RAB3GAP2):c.1779+16A>T
NM_012414.4(RAB3GAP2):c.1779+19C>T
NM_012414.4(RAB3GAP2):c.1789A>G (p.Ser597Gly)
NM_012414.4(RAB3GAP2):c.180+18T>C
NM_012414.4(RAB3GAP2):c.1814C>A (p.Pro605Gln)
NM_012414.4(RAB3GAP2):c.1870+8G>C
NM_012414.4(RAB3GAP2):c.1871-9G>A rs1358973733
NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)
NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)
NM_012414.4(RAB3GAP2):c.1929G>A (p.Leu643=) rs1392025960
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) rs2102866096
NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)
NM_012414.4(RAB3GAP2):c.1998+1G>A rs2102866054
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.1999-2del
NM_012414.4(RAB3GAP2):c.2007T>G (p.Ala669=)
NM_012414.4(RAB3GAP2):c.2014C>T (p.Leu672=)
NM_012414.4(RAB3GAP2):c.2020C>T (p.Leu674Phe)
NM_012414.4(RAB3GAP2):c.2055A>G (p.Leu685=)
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) rs1658438143
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) rs1659134905
NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)
NM_012414.4(RAB3GAP2):c.2076G>A (p.Glu692=)
NM_012414.4(RAB3GAP2):c.2113G>A (p.Asp705Asn) rs906042384
NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)
NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)
NM_012414.4(RAB3GAP2):c.2171T>C (p.Leu724Pro)
NM_012414.4(RAB3GAP2):c.2205G>A (p.Val735=)
NM_012414.4(RAB3GAP2):c.2212+16C>T
NM_012414.4(RAB3GAP2):c.2212+18C>A
NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)
NM_012414.4(RAB3GAP2):c.2253C>T (p.Ser751=)
NM_012414.4(RAB3GAP2):c.2256T>C (p.Thr752=)
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) rs1553275637
NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)
NM_012414.4(RAB3GAP2):c.2283G>A (p.Ser761=)
NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer)
NM_012414.4(RAB3GAP2):c.230A>T (p.Asp77Val)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2311-19del
NM_012414.4(RAB3GAP2):c.235G>C (p.Val79Leu)
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) rs1658202227
NM_012414.4(RAB3GAP2):c.2371A>G (p.Ile791Val)
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2416+18C>G
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2424C>T (p.Ile808=)
NM_012414.4(RAB3GAP2):c.2428G>A (p.Glu810Lys)
NM_012414.4(RAB3GAP2):c.2453C>G (p.Ser818Cys)
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) rs374334249
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) rs1658187235
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) rs2102859415
NM_012414.4(RAB3GAP2):c.2489A>G (p.Gln830Arg) rs2102859411
NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)
NM_012414.4(RAB3GAP2):c.2508C>T (p.Ala836=)
NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)
NM_012414.4(RAB3GAP2):c.2523G>A (p.Ala841=)
NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)
NM_012414.4(RAB3GAP2):c.2532G>T (p.Gly844=)
NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)
NM_012414.4(RAB3GAP2):c.2562C>T (p.Asn854=)
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) rs1658184967
NM_012414.4(RAB3GAP2):c.2578-5A>T
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.2583C>T (p.Ser861=)
NM_012414.4(RAB3GAP2):c.2586A>G (p.Gln862=)
NM_012414.4(RAB3GAP2):c.2610G>A (p.Glu870=)
NM_012414.4(RAB3GAP2):c.2611G>A (p.Ala871Thr)
NM_012414.4(RAB3GAP2):c.2622T>C (p.Asp874=)
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.265A>G (p.Met89Val)
NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)
NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)
NM_012414.4(RAB3GAP2):c.2751G>T (p.Leu917=)
NM_012414.4(RAB3GAP2):c.2756C>G (p.Ala919Gly) rs2102858848
NM_012414.4(RAB3GAP2):c.2758G>A (p.Glu920Lys)
NM_012414.4(RAB3GAP2):c.2807-4A>G
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) rs1659133093
NM_012414.4(RAB3GAP2):c.2852T>A (p.Phe951Tyr)
NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)
NM_012414.4(RAB3GAP2):c.2866T>C (p.Leu956=)
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) rs1658094190
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)
NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)
NM_012414.4(RAB3GAP2):c.2980+7C>T
NM_012414.4(RAB3GAP2):c.2981-9_2981-6del rs766834201
NM_012414.4(RAB3GAP2):c.2986C>T (p.Leu996=)
NM_012414.4(RAB3GAP2):c.2988G>A (p.Leu996=) rs2102857054
NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)
NM_012414.4(RAB3GAP2):c.3012T>C (p.Pro1004=)
NM_012414.4(RAB3GAP2):c.3038A>C (p.His1013Pro)
NM_012414.4(RAB3GAP2):c.303G>A (p.Val101=)
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.304+15A>G
NM_012414.4(RAB3GAP2):c.304+19T>G
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.305-16A>T
NM_012414.4(RAB3GAP2):c.305-24_305-20del rs770097677
NM_012414.4(RAB3GAP2):c.305-6T>A
NM_012414.4(RAB3GAP2):c.3060C>T (p.Tyr1020=)
NM_012414.4(RAB3GAP2):c.3061G>A (p.Val1021Ile)
NM_012414.4(RAB3GAP2):c.3087+11C>T
NM_012414.4(RAB3GAP2):c.3087+12G>A
NM_012414.4(RAB3GAP2):c.3088-16T>C
NM_012414.4(RAB3GAP2):c.3088-5G>A
NM_012414.4(RAB3GAP2):c.3088-9G>A
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3141A>G (p.Ala1047=)
NM_012414.4(RAB3GAP2):c.3144T>C (p.His1048=)
NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)
NM_012414.4(RAB3GAP2):c.3147T>G (p.Val1049=)
NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)
NM_012414.4(RAB3GAP2):c.3154+15G>C
NM_012414.4(RAB3GAP2):c.3154+3A>G rs1658032998
NM_012414.4(RAB3GAP2):c.3154+9del
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) rs121434310
NM_012414.4(RAB3GAP2):c.3155-14T>C
NM_012414.4(RAB3GAP2):c.3155-8C>T
NM_012414.4(RAB3GAP2):c.3156C>T (p.Gly1052=)
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) rs765738431
NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)
NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)
NM_012414.4(RAB3GAP2):c.3225+5G>C
NM_012414.4(RAB3GAP2):c.3226-12T>G
NM_012414.4(RAB3GAP2):c.3226-17T>C
NM_012414.4(RAB3GAP2):c.3232A>C (p.Lys1078Gln)
NM_012414.4(RAB3GAP2):c.3240A>G (p.Pro1080=) rs1289153615
NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3262-8A>C
NM_012414.4(RAB3GAP2):c.3280A>C (p.Thr1094Pro)
NM_012414.4(RAB3GAP2):c.3288G>A (p.Met1096Ile)
NM_012414.4(RAB3GAP2):c.3291A>T (p.Thr1097=) rs1411747717
NM_012414.4(RAB3GAP2):c.3297C>T (p.Phe1099=)
NM_012414.4(RAB3GAP2):c.3301G>A (p.Gly1101Ser)
NM_012414.4(RAB3GAP2):c.3314A>G (p.Asp1105Gly)
NM_012414.4(RAB3GAP2):c.3321T>C (p.Leu1107=)
NM_012414.4(RAB3GAP2):c.3336+9G>C
NM_012414.4(RAB3GAP2):c.3337-8A>C
NM_012414.4(RAB3GAP2):c.3353A>T (p.Asp1118Val)
NM_012414.4(RAB3GAP2):c.3380C>G (p.Thr1127Ser)
NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn) rs1657877888
NM_012414.4(RAB3GAP2):c.3396C>T (p.Leu1132=)
NM_012414.4(RAB3GAP2):c.3399C>T (p.Ser1133=)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
NM_012414.4(RAB3GAP2):c.3427C>T (p.Leu1143=)
NM_012414.4(RAB3GAP2):c.3456C>T (p.Tyr1152=)
NM_012414.4(RAB3GAP2):c.345A>G (p.Gln115=)
NM_012414.4(RAB3GAP2):c.3471C>T (p.His1157=) rs200552845
NM_012414.4(RAB3GAP2):c.3551G>T (p.Ser1184Ile)
NM_012414.4(RAB3GAP2):c.3555+16del
NM_012414.4(RAB3GAP2):c.3556-8_3556-5del rs1289721687
NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)
NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)
NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
NM_012414.4(RAB3GAP2):c.3614T>G (p.Met1205Arg)
NM_012414.4(RAB3GAP2):c.3645+1del
NM_012414.4(RAB3GAP2):c.3646-21_3646-18del
NM_012414.4(RAB3GAP2):c.3657A>G (p.Lys1219=)
NM_012414.4(RAB3GAP2):c.3690A>G (p.Ser1230=) rs1161462546
NM_012414.4(RAB3GAP2):c.3693C>T (p.Ala1231=)
NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)
NM_012414.4(RAB3GAP2):c.3713C>T (p.Thr1238Ile)
NM_012414.4(RAB3GAP2):c.372A>G (p.Leu124=) rs2102881432
NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)
NM_012414.4(RAB3GAP2):c.3752A>T (p.Asp1251Val) rs769405335
NM_012414.4(RAB3GAP2):c.3786C>T (p.His1262=)
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.3867+10A>G
NM_012414.4(RAB3GAP2):c.3868-18C>T
NM_012414.4(RAB3GAP2):c.387-18T>A
NM_012414.4(RAB3GAP2):c.387-2A>G rs769114540
NM_012414.4(RAB3GAP2):c.3876A>G (p.Leu1292=)
NM_012414.4(RAB3GAP2):c.3924G>A (p.Thr1308=)
NM_012414.4(RAB3GAP2):c.3925G>A (p.Gly1309Arg)
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)
NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)
NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.4026+11T>G
NM_012414.4(RAB3GAP2):c.4026+12A>G
NM_012414.4(RAB3GAP2):c.4026+13G>A rs771446188
NM_012414.4(RAB3GAP2):c.4026+19G>C
NM_012414.4(RAB3GAP2):c.4026+7A>G
NM_012414.4(RAB3GAP2):c.4027-15G>C
NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)
NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)
NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln) rs1558136466
NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)
NM_012414.4(RAB3GAP2):c.408A>G (p.Leu136=)
NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)
NM_012414.4(RAB3GAP2):c.4119G>A (p.Gly1373=) rs763962470
NM_012414.4(RAB3GAP2):c.411T>C (p.Cys137=)
NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)
NM_012414.4(RAB3GAP2):c.4179A>G (p.Leu1393=)
NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)
NM_012414.4(RAB3GAP2):c.42C>T (p.Leu14=)
NM_012414.4(RAB3GAP2):c.435-15T>C
NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)
NM_012414.4(RAB3GAP2):c.496C>T (p.Arg166Cys)
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) rs1659068803
NM_012414.4(RAB3GAP2):c.510+17A>G
NM_012414.4(RAB3GAP2):c.511-18_511-17insCCTCTTGTTTCCTCTGTGCTTC rs747465884
NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)
NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)
NM_012414.4(RAB3GAP2):c.550C>T (p.Pro184Ser)
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_012414.4(RAB3GAP2):c.600C>T (p.Gly200=)
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-15_613-14del
NM_012414.4(RAB3GAP2):c.613-17T>C
NM_012414.4(RAB3GAP2):c.613-20T>G
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.613-6A>T
NM_012414.4(RAB3GAP2):c.613-9C>T rs1478594196
NM_012414.4(RAB3GAP2):c.613A>G (p.Asn205Asp)
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
NM_012414.4(RAB3GAP2):c.700C>G (p.Gln234Glu) rs2102877645
NM_012414.4(RAB3GAP2):c.701A>G (p.Gln234Arg)
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) rs1658954750
NM_012414.4(RAB3GAP2):c.712+18A>T
NM_012414.4(RAB3GAP2):c.72C>T (p.His24=)
NM_012414.4(RAB3GAP2):c.738A>G (p.Ile246Met)
NM_012414.4(RAB3GAP2):c.745C>T (p.Pro249Ser)
NM_012414.4(RAB3GAP2):c.747A>C (p.Pro249=) rs780485524
NM_012414.4(RAB3GAP2):c.76C>A (p.Arg26=)
NM_012414.4(RAB3GAP2):c.770G>T (p.Gly257Val)
NM_012414.4(RAB3GAP2):c.811+17C>T
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012414.4(RAB3GAP2):c.873T>C (p.Asn291=) rs1463280020
NM_012414.4(RAB3GAP2):c.893C>T (p.Pro298Leu)
NM_012414.4(RAB3GAP2):c.898G>A (p.Ala300Thr)
NM_012414.4(RAB3GAP2):c.927C>A (p.Ser309=) rs1397365740
NM_012414.4(RAB3GAP2):c.927C>T (p.Ser309=)
NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)
NM_012414.4(RAB3GAP2):c.960+16A>G
NM_012414.4(RAB3GAP2):c.960+17T>C
NM_012414.4(RAB3GAP2):c.972A>G (p.Gln324=)
NM_012414.4(RAB3GAP2):c.984C>T (p.Ser328=) rs1234105204
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) rs965528935
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
NM_012431.3(SEMA3E):c.1040C>T (p.Ser347Phe)
NM_012431.3(SEMA3E):c.1044C>T (p.Ser348=)
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu) rs373965521
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
NM_012431.3(SEMA3E):c.110A>G (p.His37Arg)
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile) rs1788253309
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
NM_012431.3(SEMA3E):c.1141T>C (p.Ser381Pro)
NM_012431.3(SEMA3E):c.1143+15A>G
NM_012431.3(SEMA3E):c.1143+17A>G
NM_012431.3(SEMA3E):c.1144-12C>T
NM_012431.3(SEMA3E):c.1144-13A>G
NM_012431.3(SEMA3E):c.1144-15C>A
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
NM_012431.3(SEMA3E):c.115+4G>A
NM_012431.3(SEMA3E):c.115+9C>G
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
NM_012431.3(SEMA3E):c.1154A>T (p.Lys385Ile)
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-19G>A
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His) rs2115617387
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) rs1027331615
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
NM_012431.3(SEMA3E):c.1195G>A (p.Asp399Asn)
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
NM_012431.3(SEMA3E):c.1207C>T (p.Arg403Ter)
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn) rs769258588
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile) rs2115616756
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) rs2115977130
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu) rs1180431769
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) rs2115616642
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
NM_012431.3(SEMA3E):c.1263A>G (p.Lys421=)
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) rs769637710
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr) rs781593656
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=) rs149235216
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val) rs1788206837
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
NM_012431.3(SEMA3E):c.1362G>C (p.Gly454=)
NM_012431.3(SEMA3E):c.1363A>G (p.Thr455Ala)
NM_012431.3(SEMA3E):c.1366+11G>T
NM_012431.3(SEMA3E):c.1366+1G>T
NM_012431.3(SEMA3E):c.1366+5A>C
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-20C>T
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1381C>T (p.Leu461=)
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) rs139043841
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val) rs575712751
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met) rs1788128084
NM_012431.3(SEMA3E):c.1458+11C>T
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1458+1G>T
NM_012431.3(SEMA3E):c.1459-11del
NM_012431.3(SEMA3E):c.1459-11dup rs1788078377
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-17del rs2115589623
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.1499G>A (p.Arg500Gln)
NM_012431.3(SEMA3E):c.1500+14G>T
NM_012431.3(SEMA3E):c.1500+16G>A
NM_012431.3(SEMA3E):c.1500+6T>C
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=) rs767115234
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1528G>C (p.Ala510Pro)
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
NM_012431.3(SEMA3E):c.1563G>C (p.Met521Ile)
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
NM_012431.3(SEMA3E):c.1597C>T (p.Arg533Ter)
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) rs2115581814
NM_012431.3(SEMA3E):c.1634C>G (p.Ser545Cys)
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
NM_012431.3(SEMA3E):c.1667+19T>A
NM_012431.3(SEMA3E):c.1667+8G>A
NM_012431.3(SEMA3E):c.1667+8G>T
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>A
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
NM_012431.3(SEMA3E):c.1695T>C (p.His565=)
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu) rs1787895198
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) rs2116918980
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala) rs776901860
NM_012431.3(SEMA3E):c.1735+17C>T
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val) rs754158945
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala) rs1166890439
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
NM_012431.3(SEMA3E):c.1809C>T (p.Thr603=)
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly) rs778141353
NM_012431.3(SEMA3E):c.1826C>T (p.Ala609Val)
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
NM_012431.3(SEMA3E):c.1828A>G (p.Lys610Glu)
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
NM_012431.3(SEMA3E):c.1854A>G (p.Gly618=)
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G
NM_012431.3(SEMA3E):c.1875+19T>C
NM_012431.3(SEMA3E):c.1875+20T>G
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-20T>A
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1876-8T>C
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met) rs2116892550
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
NM_012431.3(SEMA3E):c.1888G>A (p.Asp630Asn)
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser) rs900496407
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln) rs1421745476
NM_012431.3(SEMA3E):c.1903A>T (p.Met635Leu)
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) rs1794698535
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
NM_012431.3(SEMA3E):c.1933C>T (p.His645Tyr)
NM_012431.3(SEMA3E):c.1935C>A (p.His645Gln)
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala) rs2116892427
NM_012431.3(SEMA3E):c.1952C>G (p.Thr651Ser)
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
NM_012431.3(SEMA3E):c.2008T>G (p.Leu670Val)
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
NM_012431.3(SEMA3E):c.2026G>A (p.Glu676Lys)
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly) rs775000046
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
NM_012431.3(SEMA3E):c.2041A>G (p.Met681Val)
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
NM_012431.3(SEMA3E):c.2090C>A (p.Pro697His)
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met) rs2116892082
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
NM_012431.3(SEMA3E):c.2116G>T (p.Ala706Ser)
NM_012431.3(SEMA3E):c.2124A>G (p.Pro708=)
NM_012431.3(SEMA3E):c.214G>C (p.Val72Leu)
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2151C>G (p.Ile717Met)
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp) rs879255398
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) rs372156795
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=) rs2116891865
NM_012431.3(SEMA3E):c.2196A>G (p.Val732=)
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu) rs200621696
NM_012431.3(SEMA3E):c.220G>A (p.Gly74Ser)
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys) rs750426538
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu) rs2116891755
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
NM_012431.3(SEMA3E):c.2280T>C (p.Arg760=)
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) rs2116891596
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs) rs2116891594
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.2312A>G (p.His771Arg)
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
NM_012431.3(SEMA3E):c.245G>T (p.Ser82Ile)
NM_012431.3(SEMA3E):c.246C>T (p.Ser82=)
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe) rs2115976438
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
NM_012431.3(SEMA3E):c.274G>C (p.Glu92Gln)
NM_012431.3(SEMA3E):c.276+10T>C
NM_012431.3(SEMA3E):c.277-13_277-2dup
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys) rs1445294085
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) rs1429296509
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
NM_012431.3(SEMA3E):c.336+14A>G
NM_012431.3(SEMA3E):c.336+15T>C
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012431.3(SEMA3E):c.337-11dup rs536827692
NM_012431.3(SEMA3E):c.337-18C>G
NM_012431.3(SEMA3E):c.337-1G>C rs1311561381
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr) rs2115880845
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His) rs1419581021
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg) rs1487949587
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
NM_012431.3(SEMA3E):c.393G>A (p.Leu131=)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
NM_012431.3(SEMA3E):c.420A>T (p.Pro140=)
NM_012431.3(SEMA3E):c.427G>A (p.Ala143Thr)
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
NM_012431.3(SEMA3E):c.441T>C (p.Val147=)
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His) rs1789759218
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter) rs1789759019
NM_012431.3(SEMA3E):c.456+11T>A
NM_012431.3(SEMA3E):c.456+19T>C
NM_012431.3(SEMA3E):c.456+5G>A
NM_012431.3(SEMA3E):c.457-42_457-19del
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
NM_012431.3(SEMA3E):c.505A>C (p.Arg169=)
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr) rs1562773446
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.550+14C>T
NM_012431.3(SEMA3E):c.550+17C>T
NM_012431.3(SEMA3E):c.550+5T>C
NM_012431.3(SEMA3E):c.550+6T>A rs1788600213
NM_012431.3(SEMA3E):c.551-10T>C
NM_012431.3(SEMA3E):c.551-11C>T
NM_012431.3(SEMA3E):c.551-14A>G
NM_012431.3(SEMA3E):c.551-14A>T
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-19del
NM_012431.3(SEMA3E):c.551-3T>C
NM_012431.3(SEMA3E):c.551-3T>G rs1351334262
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989
NM_012431.3(SEMA3E):c.551-7C>T
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
NM_012431.3(SEMA3E):c.561G>T (p.Leu187Phe)
NM_012431.3(SEMA3E):c.566C>G (p.Ala189Gly)
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
NM_012431.3(SEMA3E):c.598G>A (p.Ala200Thr)
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val) rs2115654865
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) rs2115654665
NM_012431.3(SEMA3E):c.624A>G (p.Arg208=)
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
NM_012431.3(SEMA3E):c.651C>G (p.Asp217Glu)
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
NM_012431.3(SEMA3E):c.670+11G>A
NM_012431.3(SEMA3E):c.670+20T>C
NM_012431.3(SEMA3E):c.670+8T>A
NM_012431.3(SEMA3E):c.670+8T>C
NM_012431.3(SEMA3E):c.671-16T>C
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-1G>C
NM_012431.3(SEMA3E):c.671-2A>G
NM_012431.3(SEMA3E):c.671-5T>G
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.6A>G (p.Ala2=)
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp) rs2115649014
NM_012431.3(SEMA3E):c.74C>G (p.Thr25Arg)
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
NM_012431.3(SEMA3E):c.780C>T (p.His260=) rs533306215
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) rs773917768
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) rs1467250504
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly) rs2115648631
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser) rs2115648620
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
NM_012431.3(SEMA3E):c.809_813+16del
NM_012431.3(SEMA3E):c.813+10TC[3]
NM_012431.3(SEMA3E):c.813+20_813+22del
NM_012431.3(SEMA3E):c.813+6G>A
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
NM_012431.3(SEMA3E):c.819T>C (p.Asp273=)
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met) rs2115643274
NM_012431.3(SEMA3E):c.847A>G (p.Lys283Glu)
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
NM_012431.3(SEMA3E):c.856A>G (p.Thr286Ala)
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) rs2115643169
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.886G>T (p.Val296Leu)
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
NM_012431.3(SEMA3E):c.8C>A (p.Ser3Tyr)
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
NM_012431.3(SEMA3E):c.906T>C (p.Ile302=)
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
NM_012431.3(SEMA3E):c.928+10T>C
NM_012431.3(SEMA3E):c.928+12T>G
NM_012431.3(SEMA3E):c.928+5A>C
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn) rs1478459253
NM_012431.3(SEMA3E):c.933C>T (p.Asp311=)
NM_012431.3(SEMA3E):c.93C>T (p.Pro31=)
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg) rs1788311962
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn) rs1788311567
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) rs763045418
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.998+12A>G
NM_012431.3(SEMA3E):c.998+15C>T
NM_012431.3(SEMA3E):c.998+9T>G
NM_012431.3(SEMA3E):c.999-12dup rs1418610753
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
NM_013251.4(TAC3):c.134A>G (p.Gln45Arg)
NM_013251.4(TAC3):c.238C>A (p.Arg80Ser) rs727505372
NM_013251.4(TAC3):c.238C>T (p.Arg80Cys)
NM_013251.4(TAC3):c.61del (p.Ala21fs) rs398122393
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val) rs1135402742
NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln) rs1135402743
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala) rs1355109257
NM_015295.3(SMCHD1):c.1568C>A (p.Thr523Lys) rs1135402744
NM_015295.3(SMCHD1):c.1571A>G (p.Asn524Ser) rs1135402745
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn) rs2075090484
NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro) rs1135402737
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.386T>A (p.Met129Lys) rs1135402738
NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.3(SMCHD1):c.415A>C (p.Asn139His) rs1135402739
NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser) rs2075942900
NM_015295.3(SMCHD1):c.5052+33dup rs3214732
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)
NM_015295.3(SMCHD1):c.5912T>G (p.Leu1971Trp)
NM_015295.3(SMCHD1):c.725C>G (p.Ala242Gly) rs1135402741
NM_017514.5(PLXNA3):c.1936T>C (p.Ser646Pro) rs2069048215
NM_017514.5(PLXNA3):c.3256C>G (p.Leu1086Val) rs2069103152
NM_017563.5(IL17RD):c.1992C>G (p.Ile664Met)
NM_017563.5(IL17RD):c.8C>G (p.Pro3Arg)
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val) rs2101050974
NM_017619.4(RNPC3):c.1421C>T (p.Pro474Leu)
NM_017619.4(RNPC3):c.1421del (p.Pro474fs) rs1461692571
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe) rs2101053814
NM_017619.4(RNPC3):c.261dup (p.Leu88fs) rs2101044148
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala) rs2101044774
NM_017619.4(RNPC3):c.48CTC[2] (p.Ser19del)
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter) rs939646611
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
NM_017619.4(RNPC3):c.894-2A>G
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1374C>A rs1351282001
NM_017780.4(CHD7):c.*1469G>T rs886063051
NM_017780.4(CHD7):c.*1663AG[1] rs761460675
NM_017780.4(CHD7):c.*166T>C rs1045828796
NM_017780.4(CHD7):c.*1698T>G rs544498983
NM_017780.4(CHD7):c.*1832A>G rs886063055
NM_017780.4(CHD7):c.*190A>G rs1032110611
NM_017780.4(CHD7):c.*19C>A rs371417969
NM_017780.4(CHD7):c.*21A>G rs1279774618
NM_017780.4(CHD7):c.*293G>C rs886063044
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.*489C>G rs1806244672
NM_017780.4(CHD7):c.*542C>T rs565543543
NM_017780.4(CHD7):c.-102G>T rs1808989933
NM_017780.4(CHD7):c.-15G>A
NM_017780.4(CHD7):c.-181C>G rs531989939
NM_017780.4(CHD7):c.-298C>A rs886063028
NM_017780.4(CHD7):c.-380C>T rs113958504
NM_017780.4(CHD7):c.-465GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-469G>A rs868087197
NM_017780.4(CHD7):c.-472G>A rs865775134
NM_017780.4(CHD7):c.-481G>A rs886063024
NM_017780.4(CHD7):c.-490GGC[10] rs886063023
NM_017780.4(CHD7):c.-490GGC[9] rs886063023
NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile)
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1011T>G (p.Asn337Lys)
NM_017780.4(CHD7):c.102A>G (p.Val34=) rs1170310957
NM_017780.4(CHD7):c.1032A>G (p.Val344=)
NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs) rs2150579872
NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
NM_017780.4(CHD7):c.1049C>T (p.Ala350Val) rs2150579918
NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg)
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1064C>T (p.Ser355Leu)
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly) rs1809095447
NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn)
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1079G>C (p.Gly360Ala)
NM_017780.4(CHD7):c.107C>T (p.Pro36Leu)
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1092G>A (p.Gln364=) rs1430411532
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser)
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1107C>T (p.Pro369=) rs1375829546
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly) rs1809098477
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp)
NM_017780.4(CHD7):c.1126A>G (p.Met376Val) rs1317332713
NM_017780.4(CHD7):c.1134A>T (p.Thr378=)
NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys) rs2150580201
NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)
NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter) rs2150580244
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu) rs757050240
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter) rs554737227
NM_017780.4(CHD7):c.1171G>T (p.Ala391Ser)
NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly)
NM_017780.4(CHD7):c.1173C>G (p.Ala391=) rs2150580271
NM_017780.4(CHD7):c.1179A>T (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)
NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
NM_017780.4(CHD7):c.1193C>A (p.Pro398His) rs1586250714
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
NM_017780.4(CHD7):c.1197G>A (p.Met399Ile)
NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr)
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
NM_017780.4(CHD7):c.1205T>C (p.Met402Thr) rs775931738
NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu)
NM_017780.4(CHD7):c.1221C>T (p.Gly407=) rs1809105436
NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala) rs760121832
NM_017780.4(CHD7):c.1228C>T (p.Pro410Ser)
NM_017780.4(CHD7):c.1233A>G (p.Pro411=) rs1809107487
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly) rs1021434443
NM_017780.4(CHD7):c.1242G>T (p.Arg414Ser)
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) rs1313265725
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
NM_017780.4(CHD7):c.1250G>A (p.Ser417Asn)
NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
NM_017780.4(CHD7):c.1254T>C (p.Ala418=)
NM_017780.4(CHD7):c.1260A>C (p.Ile420=) rs1332728138
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met) rs1332728138
NM_017780.4(CHD7):c.1263A>G (p.Pro421=)
NM_017780.4(CHD7):c.1267del (p.Glu423fs) rs1809110580
NM_017780.4(CHD7):c.1271_1273del (p.Val424del) rs1466152038
NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)
NM_017780.4(CHD7):c.1285A>C (p.Asn429His) rs771200821
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
NM_017780.4(CHD7):c.1311C>T (p.His437=)
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1314G>T (p.Gln438His)
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) rs772369092
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
NM_017780.4(CHD7):c.1328T>C (p.Met443Thr)
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter) rs2150580758
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1348A>G (p.Met450Val)
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr)
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
NM_017780.4(CHD7):c.1356C>T (p.Pro452=)
NM_017780.4(CHD7):c.1364T>A (p.Met455Lys)
NM_017780.4(CHD7):c.1365G>A (p.Met455Ile)
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1375C>G (p.Arg459Gly)
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
NM_017780.4(CHD7):c.1390A>T (p.Met464Leu)
NM_017780.4(CHD7):c.1392G>T (p.Met464Ile) rs780392912
NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe)
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) rs886063031
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.1417G>A (p.Gly473Arg)
NM_017780.4(CHD7):c.1417G>T (p.Gly473Trp)
NM_017780.4(CHD7):c.1418G>A (p.Gly473Glu)
NM_017780.4(CHD7):c.141T>C (p.Phe47=) rs2150577522
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1428G>A (p.Arg476=)
NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser) rs774211699
NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe)
NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser)
NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp) rs911422083
NM_017780.4(CHD7):c.1446dup (p.Val483fs) rs2150581008
NM_017780.4(CHD7):c.1449T>G (p.Val483=)
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val)
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) rs1383452692
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)
NM_017780.4(CHD7):c.1476_1520del (p.Gln492_Ser507delinsHis)
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg) rs1809129557
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260
NM_017780.4(CHD7):c.1501C>T (p.His501Tyr)
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
NM_017780.4(CHD7):c.1510C>A (p.Gln504Lys)
NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu)
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.1518A>G (p.Pro506=)
NM_017780.4(CHD7):c.1524_1551del (p.Gln509fs)
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg) rs1809015487
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala) rs957224882
NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del) rs746859882
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr) rs1210884047
NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala)
NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser) rs1210884047
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1553A>G (p.Gln518Arg)
NM_017780.4(CHD7):c.1554G>C (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1555C>T (p.Pro519Ser)
NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu)
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)
NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala)
NM_017780.4(CHD7):c.1563G>C (p.Pro521=)
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) rs2150581368
NM_017780.4(CHD7):c.1577_1579dup (p.Ser527Ter)
NM_017780.4(CHD7):c.1581T>C (p.Ser527=)
NM_017780.4(CHD7):c.1587T>G (p.Pro529=)
NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del)
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1604A>G (p.Gln535Arg)
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu) rs1809137397
NM_017780.4(CHD7):c.160C>G (p.Leu54Val)
NM_017780.4(CHD7):c.1619T>C (p.Leu540Pro)
NM_017780.4(CHD7):c.1621C>T (p.His541Tyr)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=) rs45536935
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro) rs1586252204
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
NM_017780.4(CHD7):c.1665+10C>G
NM_017780.4(CHD7):c.1665+14G>C
NM_017780.4(CHD7):c.1665+16G>A rs2150581557
NM_017780.4(CHD7):c.1665+1G>A
NM_017780.4(CHD7):c.1665+20A>C
NM_017780.4(CHD7):c.1665+8G>T
NM_017780.4(CHD7):c.1666-10T>C
NM_017780.4(CHD7):c.1666-16T>C
NM_017780.4(CHD7):c.1666-20T>C
NM_017780.4(CHD7):c.1666-5C>A
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
NM_017780.4(CHD7):c.1674G>T (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu) rs1402410171
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_017780.4(CHD7):c.1697del (p.Pro566fs)
NM_017780.4(CHD7):c.1698A>G (p.Pro566=) rs727503862
NM_017780.4(CHD7):c.1705del (p.Asp569fs)
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu) rs1694045574
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)
NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)
NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala)
NM_017780.4(CHD7):c.1725A>G (p.Gly575=) rs2150669175
NM_017780.4(CHD7):c.1728G>A (p.Pro576=) rs754836392
NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys) rs780953224
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
NM_017780.4(CHD7):c.1740_1744delinsTC (p.Val581_Lys582delinsGln) rs1554588657
NM_017780.4(CHD7):c.1741G>C (p.Val581Leu)
NM_017780.4(CHD7):c.1748G>C (p.Ser583Thr)
NM_017780.4(CHD7):c.1751A>T (p.Asp584Val) rs1811198841
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)
NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys) rs2150669323
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs) rs2150669316
NM_017780.4(CHD7):c.1780C>T (p.Pro594Ser)
NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu) rs2150669341
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1794del (p.Lys599fs)
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1807_1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs) rs1811203974
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser) rs1811204503
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
NM_017780.4(CHD7):c.181C>G (p.Gln61Glu)
NM_017780.4(CHD7):c.1823C>A (p.Ala608Glu)
NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn) rs1811206668
NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly)
NM_017780.4(CHD7):c.1856A>G (p.Asp619Gly) rs1375813352
NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)
NM_017780.4(CHD7):c.1862C>A (p.Pro621His) rs1229088933
NM_017780.4(CHD7):c.1862dup (p.Gly622fs)
NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
NM_017780.4(CHD7):c.186_190dup (p.Thr64fs)
NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)
NM_017780.4(CHD7):c.1871del (p.Val624fs) rs2150669574
NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)
NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)
NM_017780.4(CHD7):c.1889A>T (p.Asn630Ile)
NM_017780.4(CHD7):c.1898C>A (p.Ser633Ter)
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
NM_017780.4(CHD7):c.1903G>C (p.Asp635His)
NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup) rs1563595031
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1925dup (p.Lys643fs)
NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)
NM_017780.4(CHD7):c.1931del (p.Lys644fs) rs2150669764
NM_017780.4(CHD7):c.1931dup (p.Lys645fs)
NM_017780.4(CHD7):c.1936dup (p.Arg646fs) rs2150669783
NM_017780.4(CHD7):c.1944G>A (p.Lys648=)
NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)
NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr) rs1811215623
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)
NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) rs1563595095
NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)
NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg) rs200536932
NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
NM_017780.4(CHD7):c.1977del (p.Lys660fs) rs2150669944
NM_017780.4(CHD7):c.1980G>A (p.Lys660=) rs2150669967
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs) rs2150669923
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.1994C>G (p.Pro665Arg)
NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)
NM_017780.4(CHD7):c.2002C>A (p.Pro668Thr)
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu) rs2150670002
NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)
NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)
NM_017780.4(CHD7):c.2011C>T (p.Pro671Ser)
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr)
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
NM_017780.4(CHD7):c.202C>A (p.His68Asn)
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
NM_017780.4(CHD7):c.2041A>G (p.Lys681Glu)
NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2060C>G (p.Thr687Ser)
NM_017780.4(CHD7):c.2061_2065dup (p.Thr689fs)
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln) rs755898600
NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg)
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu) rs1809021019
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096+1del rs2150670337
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.2096+23_2096+25del rs1811226936
NM_017780.4(CHD7):c.2096+8G>A
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2097-14A>G
NM_017780.4(CHD7):c.2097-18A>G
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2097-2A>G rs2150697457
NM_017780.4(CHD7):c.2097-5dup
NM_017780.4(CHD7):c.2097T>G (p.Ser699Arg) rs767027265
NM_017780.4(CHD7):c.209A>G (p.Asp70Gly)
NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr)
NM_017780.4(CHD7):c.2117A>T (p.Glu706Val)
NM_017780.4(CHD7):c.2118A>G (p.Glu706=) rs2150697530
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer) rs2150697555
NM_017780.4(CHD7):c.2130G>A (p.Leu710=)
NM_017780.4(CHD7):c.2134A>G (p.Lys712Glu)
NM_017780.4(CHD7):c.2143A>G (p.Asn715Asp)
NM_017780.4(CHD7):c.2145C>A (p.Asn715Lys)
NM_017780.4(CHD7):c.2147A>C (p.Lys716Thr)
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
NM_017780.4(CHD7):c.216T>A (p.Tyr72Ter)
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
NM_017780.4(CHD7):c.2182G>A (p.Asp728Asn)
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly) rs749679283
NM_017780.4(CHD7):c.2186A>G (p.Lys729Arg)
NM_017780.4(CHD7):c.2187A>G (p.Lys729=) rs1405754910
NM_017780.4(CHD7):c.2189dup (p.Pro731fs) rs2150697787
NM_017780.4(CHD7):c.2195del (p.Pro732fs) rs1586341138
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
NM_017780.4(CHD7):c.2196dup (p.Pro733fs) rs2150697832
NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu)
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2209C>T (p.Pro737Ser)
NM_017780.4(CHD7):c.2214A>T (p.Glu738Asp)
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn) rs776372236
NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu)
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
NM_017780.4(CHD7):c.2233G>A (p.Val745Ile) rs1811957623
NM_017780.4(CHD7):c.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.2238+7C>T
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017780.4(CHD7):c.2239-3T>C
NM_017780.4(CHD7):c.2239-4T>G
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp) rs1320501538
NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln) rs942764555
NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn)
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.225T>G (p.Tyr75Ter)
NM_017780.4(CHD7):c.2260G>A (p.Val754Met)
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu)
NM_017780.4(CHD7):c.2265G>A (p.Lys755=)
NM_017780.4(CHD7):c.2267G>T (p.Arg756Ile)
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg)
NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys)
NM_017780.4(CHD7):c.2275T>C (p.Tyr759His)
NM_017780.4(CHD7):c.2283A>G (p.Glu761=) rs1372243680
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter) rs2150708828
NM_017780.4(CHD7):c.2291A>T (p.Glu764Val)
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2298G>T (p.Lys766Asn)
NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln) rs2150708888
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del) rs761153051
NM_017780.4(CHD7):c.2321dup (p.Asp774fs) rs2150708918
NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter) rs2150577671
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly)
NM_017780.4(CHD7):c.2333C>T (p.Ala778Val)
NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys) rs1812251287
NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala) rs373873996
NM_017780.4(CHD7):c.2349C>T (p.Pro783=)
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
NM_017780.4(CHD7):c.235A>G (p.Lys79Glu) rs2150577685
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2373G>T (p.Gln791His)
NM_017780.4(CHD7):c.2376+17T>C
NM_017780.4(CHD7):c.2376+19G>A
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2376+8C>A rs1331200503
NM_017780.4(CHD7):c.2376+8C>T
NM_017780.4(CHD7):c.2376+9C>T rs2150709106
NM_017780.4(CHD7):c.2377-16A>G
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2377-1G>A rs2150711063
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2377-8T>C
NM_017780.4(CHD7):c.2377-8T>G rs777518407
NM_017780.4(CHD7):c.2377-9T>C
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
NM_017780.4(CHD7):c.2383_2384del (p.Ser794_Val795insTer) rs1064793432
NM_017780.4(CHD7):c.238A>T (p.Met80Leu)
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
NM_017780.4(CHD7):c.2396G>T (p.Gly799Val) rs1167408520
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
NM_017780.4(CHD7):c.239T>G (p.Met80Arg)
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2415dup (p.Met806fs)
NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn)
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys) rs2150711196
NM_017780.4(CHD7):c.2426G>A (p.Arg809His) rs1313215076
NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro) rs1313215076
NM_017780.4(CHD7):c.242A>G (p.His81Arg)
NM_017780.4(CHD7):c.2432T>C (p.Val811Ala)
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+10A>G
NM_017780.4(CHD7):c.2442+11T>C
NM_017780.4(CHD7):c.2442+12del
NM_017780.4(CHD7):c.2442+16G>A
NM_017780.4(CHD7):c.2442+18C>T
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2442+7G>A
NM_017780.4(CHD7):c.2443-11T>G rs2150723881
NM_017780.4(CHD7):c.2443-8T>G
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2467A>G (p.Ile823Val)
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr) rs1812629374
NM_017780.4(CHD7):c.2470G>A (p.Glu824Lys)
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.2480A>G (p.Tyr827Cys)
NM_017780.4(CHD7):c.2487_2488insCCATC (p.Tyr830fs)
NM_017780.4(CHD7):c.2492A>G (p.Lys831Arg)
NM_017780.4(CHD7):c.2495del (p.Asn832fs) rs2150723965
NM_017780.4(CHD7):c.2496C>T (p.Asn832=) rs1455553468
NM_017780.4(CHD7):c.2498+14G>C
NM_017780.4(CHD7):c.2498+15del
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2498+5G>A
NM_017780.4(CHD7):c.2499-10G>T rs1351318078
NM_017780.4(CHD7):c.2499-11T>A rs2150738863
NM_017780.4(CHD7):c.2499-17T>C
NM_017780.4(CHD7):c.2499-18A>G
NM_017780.4(CHD7):c.2499-19T>C
NM_017780.4(CHD7):c.2499-19del rs757104700
NM_017780.4(CHD7):c.2499-20A>G rs1803748923
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2509_2512del (p.His837fs)
NM_017780.4(CHD7):c.2510A>G (p.His837Arg)
NM_017780.4(CHD7):c.2515C>T (p.Gln839Ter)
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg) rs2150738931
NM_017780.4(CHD7):c.251A>G (p.Asp84Gly)
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
NM_017780.4(CHD7):c.2540A>G (p.Glu847Gly)
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.2546A>G (p.Asp849Gly)
NM_017780.4(CHD7):c.2547T>A (p.Asp849Glu)
NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu)
NM_017780.4(CHD7):c.2568T>A (p.Ile856=)
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2569A>T (p.Lys857Ter)
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln) rs1355349547
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
NM_017780.4(CHD7):c.2581G>A (p.Ala861Thr)
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2592C>T (p.Gly864=)
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
NM_017780.4(CHD7):c.2601_2602insACAA (p.Phe868fs)
NM_017780.4(CHD7):c.2613+11C>T
NM_017780.4(CHD7):c.2613+14G>C
NM_017780.4(CHD7):c.2613+18A>G
NM_017780.4(CHD7):c.2613+19C>A
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2613+1G>T rs587783432
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2613+23del
NM_017780.4(CHD7):c.2613+8dup rs2150739145
NM_017780.4(CHD7):c.2613+9_2613+10dup
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) rs2150739129
NM_017780.4(CHD7):c.2614-11dup
NM_017780.4(CHD7):c.2614-14T>C
NM_017780.4(CHD7):c.2614-6G>A
NM_017780.4(CHD7):c.2614-9T>C rs2150745067
NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr)
NM_017780.4(CHD7):c.2619G>A (p.Glu873=)
NM_017780.4(CHD7):c.2625G>A (p.Glu875=) rs2150745168
NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile)
NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe) rs368156500
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly) rs1015190633
NM_017780.4(CHD7):c.2639A>T (p.Asp880Val)
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2653G>T (p.Asp885Tyr)
NM_017780.4(CHD7):c.2654A>G (p.Asp885Gly)
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu)
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) rs768961973
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys)
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
NM_017780.4(CHD7):c.268A>G (p.Met90Val)
NM_017780.4(CHD7):c.2697+12T>C
NM_017780.4(CHD7):c.2697+4A>T
NM_017780.4(CHD7):c.2697+7G>A
NM_017780.4(CHD7):c.2698-19T>G
NM_017780.4(CHD7):c.2698-1G>T
NM_017780.4(CHD7):c.2698-9C>G
NM_017780.4(CHD7):c.2698-9C>T
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2707_2710del (p.His903fs) rs2150748709
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2714T>C (p.Leu905Pro)
NM_017780.4(CHD7):c.2716G>A (p.Val906Met)
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
NM_017780.4(CHD7):c.2725T>C (p.Cys909Arg)
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter) rs1804054410
NM_017780.4(CHD7):c.2730A>G (p.Ser910=)
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) rs886039881
NM_017780.4(CHD7):c.2747G>T (p.Ser916Ile)
NM_017780.4(CHD7):c.2750C>T (p.Thr917Met)
NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg)
NM_017780.4(CHD7):c.2763G>A (p.Arg921=)
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
NM_017780.4(CHD7):c.2767dup (p.Asp923fs) rs1804056309
NM_017780.4(CHD7):c.2769C>T (p.Asp923=) rs1375498221
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu) rs749781431
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
NM_017780.4(CHD7):c.2787C>A (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) rs771367272
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.278C>A (p.Thr93Asn) rs1809027007
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile) rs1809027007
NM_017780.4(CHD7):c.2799_2800delinsTG (p.Glu933_Lys934delinsAspGlu)
NM_017780.4(CHD7):c.279C>T (p.Thr93=) rs2150577775
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
NM_017780.4(CHD7):c.2801A>C (p.Lys934Thr) rs767217637
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs) rs2150748939
NM_017780.4(CHD7):c.2808G>A (p.Met936Ile)
NM_017780.4(CHD7):c.280C>T (p.Pro94Ser)
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) rs1586389578
NM_017780.4(CHD7):c.281del (p.Pro94fs) rs1809027236
NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu)
NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala)
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2834T>C (p.Val945Ala)
NM_017780.4(CHD7):c.2835+13T>C
NM_017780.4(CHD7):c.2835+16T>C
NM_017780.4(CHD7):c.2835+18G>A
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2835+1G>T
NM_017780.4(CHD7):c.2836-10T>A
NM_017780.4(CHD7):c.2836-13A>G rs757536080
NM_017780.4(CHD7):c.2836-15C>G
NM_017780.4(CHD7):c.2836-16A>C
NM_017780.4(CHD7):c.2836-16A>G
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2836-20A>G
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2845C>T (p.Pro949Ser)
NM_017780.4(CHD7):c.2848G>A (p.Ala950Thr)
NM_017780.4(CHD7):c.2849C>T (p.Ala950Val)
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val) rs768456277
NM_017780.4(CHD7):c.2854G>A (p.Asp952Asn)
NM_017780.4(CHD7):c.2856T>C (p.Asp952=)
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg)
NM_017780.4(CHD7):c.2872A>G (p.Ser958Gly)
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.2894A>G (p.Asn965Ser)
NM_017780.4(CHD7):c.2897A>G (p.Asn966Ser)
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
NM_017780.4(CHD7):c.290G>A (p.Gly97Glu) rs1809028585
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2914C>G (p.Gln972Glu)
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del) rs1804070388
NM_017780.4(CHD7):c.2922G>A (p.Glu974=)
NM_017780.4(CHD7):c.292C>T (p.Leu98Phe)
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
NM_017780.4(CHD7):c.2947T>A (p.Trp983Arg)
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys)
NM_017780.4(CHD7):c.2957+11C>G
NM_017780.4(CHD7):c.2957+15T>A
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.2957+6T>A
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr) rs779024959
NM_017780.4(CHD7):c.2983A>G (p.Met995Val)
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe) rs1804093530
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr) rs1809030198
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu)
NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu) rs1223377243
NM_017780.4(CHD7):c.3006G>A (p.Gln1002=)
NM_017780.4(CHD7):c.3013A>C (p.Thr1005Pro)
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys) rs1804094552
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His)
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
NM_017780.4(CHD7):c.3034T>A (p.Leu1012Met)
NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe) rs1804095307
NM_017780.4(CHD7):c.3039del (p.Gly1014fs) rs2150750228
NM_017780.4(CHD7):c.303G>C (p.Pro101=)
NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu)
NM_017780.4(CHD7):c.305A>G (p.His102Arg)
NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu)
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=)
NM_017780.4(CHD7):c.306C>T (p.His102=) rs368111535
NM_017780.4(CHD7):c.3071C>T (p.Pro1024Leu)
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=) rs2150750309
NM_017780.4(CHD7):c.3073T>C (p.Leu1025=)
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=)
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3094G>C (p.Glu1032Gln)
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) rs1804098493
NM_017780.4(CHD7):c.309G>C (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys) rs568551629
NM_017780.4(CHD7):c.312G>T (p.Gln104His)
NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile) rs2150750448
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
NM_017780.4(CHD7):c.3158G>A (p.Arg1053His)
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.3166A>T (p.Ile1056Phe)
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3174G>C (p.Leu1058Phe)
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe)
NM_017780.4(CHD7):c.318C>T (p.His106=) rs2150577900
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3196C>T (p.Pro1066Ser)
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=)
NM_017780.4(CHD7):c.3201+10C>T
NM_017780.4(CHD7):c.3201+16T>G
NM_017780.4(CHD7):c.3201+19T>A
NM_017780.4(CHD7):c.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3201+20A>T
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3202-18T>A
NM_017780.4(CHD7):c.3202-18T>C
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3202-4dup
NM_017780.4(CHD7):c.3202-6T>C
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro)
NM_017780.4(CHD7):c.3207A>G (p.Arg1069=)
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.322C>T (p.Pro108Ser)
NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr) rs1804153900
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) rs1804154884
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
NM_017780.4(CHD7):c.3284G>A (p.Arg1095Gln)
NM_017780.4(CHD7):c.3286A>C (p.Asn1096His)
NM_017780.4(CHD7):c.3287A>G (p.Asn1096Ser)
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
NM_017780.4(CHD7):c.328G>T (p.Val110Phe)
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) rs551443626
NM_017780.4(CHD7):c.3294A>G (p.Pro1098=)
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.3306A>G (p.Val1102=)
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer) rs2150752540
NM_017780.4(CHD7):c.3314A>G (p.Asp1105Gly)
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly)
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
NM_017780.4(CHD7):c.335A>G (p.Gln112Arg)
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs) rs1804158472
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_017780.4(CHD7):c.3378+14T>C
NM_017780.4(CHD7):c.3378+5G>C rs1554598029
NM_017780.4(CHD7):c.3378+8A>G
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
NM_017780.4(CHD7):c.3379-12G>C
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379-5C>G
NM_017780.4(CHD7):c.3379-6C>T
NM_017780.4(CHD7):c.3379-9T>A rs1586401989
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.337G>T (p.Val113Leu) rs2150577960
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) rs1015914018
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=) rs769233218
NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln)
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) rs1427044855
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3421G>A (p.Val1141Met)
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.3442C>T (p.Leu1148Phe)
NM_017780.4(CHD7):c.3443T>C (p.Leu1148Pro)
NM_017780.4(CHD7):c.3461G>T (p.Ser1154Ile)
NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu)
NM_017780.4(CHD7):c.3470del (p.Pro1157fs) rs1804367478
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=) rs1804368569
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
NM_017780.4(CHD7):c.3501T>C (p.Gly1167=)
NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn) rs2150761332
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg) rs1804369175
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs) rs1804369315
NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys) rs2150761372
NM_017780.4(CHD7):c.351C>G (p.Gly117=)
NM_017780.4(CHD7):c.3522+11G>C rs1266763613
NM_017780.4(CHD7):c.3522+19T>C
NM_017780.4(CHD7):c.3522+1G>A rs1804369859
NM_017780.4(CHD7):c.3522+20T>C
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.3522+4T>G
NM_017780.4(CHD7):c.3523-15A>G rs2150764543
NM_017780.4(CHD7):c.3523-19A>T
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
NM_017780.4(CHD7):c.3523-42A>G
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del)
NM_017780.4(CHD7):c.355G>C (p.Gly119Arg)
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly)
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His) rs1554599432
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs) rs2150578004
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser)
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu) rs1804453835
NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg)
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3616del (p.Ile1206fs) rs1804454376
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3634_3637del (p.Asn1212fs)
NM_017780.4(CHD7):c.3637A>G (p.Ile1213Val)
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro) rs1804454889
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) rs1563638250
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp) rs1181372363
NM_017780.4(CHD7):c.3667G>A (p.Glu1223Lys)
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala)
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer) rs2150764898
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp)
NM_017780.4(CHD7):c.369G>T (p.Met123Ile)
NM_017780.4(CHD7):c.36G>A (p.Glu12=)
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) rs2150764981
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr)
NM_017780.4(CHD7):c.3751T>C (p.Cys1251Arg)
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu)
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3778+11C>T
NM_017780.4(CHD7):c.3778+19C>T
NM_017780.4(CHD7):c.3778+20G>A
NM_017780.4(CHD7):c.3778+20G>C
NM_017780.4(CHD7):c.3778+6G>A
NM_017780.4(CHD7):c.3778+8T>C
NM_017780.4(CHD7):c.3778+9G>T
NM_017780.4(CHD7):c.3779-10A>G rs886063035
NM_017780.4(CHD7):c.3779-13C>T
NM_017780.4(CHD7):c.3779-15G>A rs2150775393
NM_017780.4(CHD7):c.3779-18G>A rs2150775387
NM_017780.4(CHD7):c.3779-18G>C
NM_017780.4(CHD7):c.3779-19T>C
NM_017780.4(CHD7):c.3779-7T>G
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp)
NM_017780.4(CHD7):c.3805T>G (p.Phe1269Val)
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3818del (p.His1273fs)
NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser)
NM_017780.4(CHD7):c.3828G>A (p.Glu1276=)
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
NM_017780.4(CHD7):c.3843G>T (p.Gln1281His) rs745423641
NM_017780.4(CHD7):c.3844C>G (p.Leu1282Val)
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) rs1586416413
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=)
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=)
NM_017780.4(CHD7):c.3858C>T (p.Ile1286=)
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=)
NM_017780.4(CHD7):c.3894G>T (p.Leu1298=)
NM_017780.4(CHD7):c.3895C>T (p.Leu1299=)
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) rs2150775740
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
NM_017780.4(CHD7):c.3928C>T (p.Leu1310Phe) rs1563643440
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
NM_017780.4(CHD7):c.3953G>A (p.Cys1318Tyr)
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn) rs1809038190
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val)
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
NM_017780.4(CHD7):c.3989+11C>T rs2150775930
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
NM_017780.4(CHD7):c.3990-10T>A
NM_017780.4(CHD7):c.3990-11A>T
NM_017780.4(CHD7):c.3990-16C>G
NM_017780.4(CHD7):c.3990-1G>C
NM_017780.4(CHD7):c.3990-8T>C
NM_017780.4(CHD7):c.3990-9G>A
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4020A>G (p.Val1340=)
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser)
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) rs1478092831
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr) rs1804767147
NM_017780.4(CHD7):c.4053A>G (p.Arg1351=)
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) rs2150777183
NM_017780.4(CHD7):c.4059C>A (p.Ser1353=)
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly) rs2150777199
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) rs1586417903
NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His) rs1064796242
NM_017780.4(CHD7):c.4090C>T (p.Leu1364=)
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
NM_017780.4(CHD7):c.4100G>A (p.Arg1367Lys)
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met)
NM_017780.4(CHD7):c.411C>G (p.Ser137=) rs1317598292
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
NM_017780.4(CHD7):c.4128T>C (p.Thr1376=)
NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn)
NM_017780.4(CHD7):c.4157C>G (p.Ser1386Ter)
NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly)
NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg)
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.417G>A (p.Val139=) rs2150578159
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.4185+17G>A
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4186-2A>G
NM_017780.4(CHD7):c.4186-3C>G
NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4203T>C (p.His1401=) rs969238742
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) rs1804800490
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg) rs1804800800
NM_017780.4(CHD7):c.421A>T (p.Ser141Cys)
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) rs2150778596
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
NM_017780.4(CHD7):c.4233C>G (p.Ile1411Met)
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) rs2150778641
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
NM_017780.4(CHD7):c.4259A>G (p.Tyr1420Cys)
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
NM_017780.4(CHD7):c.425G>T (p.Ser142Ile)
NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys) rs2150778664
NM_017780.4(CHD7):c.4266_4267dup (p.Glu1423fs)
NM_017780.4(CHD7):c.4276G>A (p.Asp1426Asn)
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly) rs1804802453
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=) rs2150778687
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.42G>A (p.Gly14=) rs1215319146
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
NM_017780.4(CHD7):c.432G>A (p.Met144Ile)
NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile)
NM_017780.4(CHD7):c.4353+12C>G
NM_017780.4(CHD7):c.4353+1G>T rs1804804514
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4353+4A>C rs1804804691
NM_017780.4(CHD7):c.4354-12T>G
NM_017780.4(CHD7):c.4354-1G>A rs2150779252
NM_017780.4(CHD7):c.4354-6A>G
NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile)
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter) rs2150779267
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly)
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln)
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=)
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) rs1214452736
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu)
NM_017780.4(CHD7):c.4420G>A (p.Asp1474Asn)
NM_017780.4(CHD7):c.4424del (p.Glu1475fs) rs1804819972
NM_017780.4(CHD7):c.4425GGA[3] (p.Glu1476_Asp1477insGlu)
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
NM_017780.4(CHD7):c.4437G>T (p.Gly1479=)
NM_017780.4(CHD7):c.4439_4440insCCCC (p.Lys1481fs)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4470C>T (p.Ile1490=)
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val)
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
NM_017780.4(CHD7):c.447T>C (p.Ala149=)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4483A>G (p.Thr1495Ala)
NM_017780.4(CHD7):c.4486C>T (p.His1496Tyr)
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu)
NM_017780.4(CHD7):c.4509A>G (p.Glu1503=)
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu)
NM_017780.4(CHD7):c.4533+10G>A
NM_017780.4(CHD7):c.4533+1G>A rs1586420419
NM_017780.4(CHD7):c.4533+1G>C
NM_017780.4(CHD7):c.4533+7A>C
NM_017780.4(CHD7):c.4534-11T>C rs2150785971
NM_017780.4(CHD7):c.4534-12T>C
NM_017780.4(CHD7):c.4534-20C>A rs727503866
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4542del (p.Phe1514fs) rs2150785999
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=)
NM_017780.4(CHD7):c.4594C>G (p.Gln1532Glu) rs2150786112
NM_017780.4(CHD7):c.4596A>G (p.Gln1532=)
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly)
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) rs2150786158
NM_017780.4(CHD7):c.4616A>C (p.Glu1539Ala)
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) rs2150786214
NM_017780.4(CHD7):c.462C>G (p.Asp154Glu)
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) rs1809042353
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=)
NM_017780.4(CHD7):c.4644+11A>C
NM_017780.4(CHD7):c.4644+14C>A
NM_017780.4(CHD7):c.4644+15C>A
NM_017780.4(CHD7):c.4644+16C>T
NM_017780.4(CHD7):c.4644+1G>T
NM_017780.4(CHD7):c.4644+20C>G
NM_017780.4(CHD7):c.4644+5G>C
NM_017780.4(CHD7):c.4644+9_4644+10insTTG rs1363820681
NM_017780.4(CHD7):c.4645-15C>G rs949803813
NM_017780.4(CHD7):c.4645-16C>T rs1487936420
NM_017780.4(CHD7):c.4645-1G>A
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4656T>C (p.Val1552=)
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn)
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs) rs2150786530
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.466A>C (p.Ile156Leu) rs2150578286
NM_017780.4(CHD7):c.466A>G (p.Ile156Val)
NM_017780.4(CHD7):c.466A>T (p.Ile156Leu)
NM_017780.4(CHD7):c.4671A>G (p.Arg1557=) rs2150786548
NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=)
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=)
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys)
NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=)
NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter) rs1804993220
NM_017780.4(CHD7):c.473C>A (p.Ala158Asp)
NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe)
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.4767A>G (p.Ala1589=)
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) rs2150786767
NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln) rs1388750390
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) rs1057521078
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg)
NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser) rs2150786873
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe) rs2150786892
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg) rs2150578323
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
NM_017780.4(CHD7):c.4829A>G (p.Glu1610Gly)
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.4842dup (p.Val1615fs)
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4850+11C>T
NM_017780.4(CHD7):c.4850+1G>A
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG rs2150787035
NM_017780.4(CHD7):c.4850+9G>T rs2150787043
NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp) rs1804999304
NM_017780.4(CHD7):c.4851-15A>T
NM_017780.4(CHD7):c.4851-17G>A
NM_017780.4(CHD7):c.4851-18T>C
NM_017780.4(CHD7):c.4851-4G>T
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4853G>A (p.Trp1618Ter)
NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys) rs2150792862
NM_017780.4(CHD7):c.4857A>G (p.Gly1619=)
NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu)
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
NM_017780.4(CHD7):c.4863G>A (p.Trp1621Ter)
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.4882G>A (p.Gly1628Arg) rs944955791
NM_017780.4(CHD7):c.4886G>A (p.Arg1629His)
NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro)
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs) rs2150792975
NM_017780.4(CHD7):c.4891A>G (p.Lys1631Glu)
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter) rs2150793053
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
NM_017780.4(CHD7):c.4933del (p.Thr1645fs) rs2150793143
NM_017780.4(CHD7):c.4934C>T (p.Thr1645Ile)
NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met) rs913573032
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs) rs1805142029
NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val)
NM_017780.4(CHD7):c.495_500del (p.164QP[2])
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4]) rs758131874
NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg)
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln) rs1805142705
NM_017780.4(CHD7):c.4976A>G (p.Asn1659Ser)
NM_017780.4(CHD7):c.497_508del (p.164QP[1])
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu) rs2150793254
NM_017780.4(CHD7):c.498_506del (p.167PQP[1])
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del)
NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro)
NM_017780.4(CHD7):c.5005A>G (p.Thr1669Ala)
NM_017780.4(CHD7):c.5021G>A (p.Gly1674Asp)
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5025G>C (p.Gln1675His)
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala) rs746011394
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) rs921201693
NM_017780.4(CHD7):c.5043C>T (p.Asn1681=)
NM_017780.4(CHD7):c.5050+13C>T
NM_017780.4(CHD7):c.5050+17C>G rs907564726
NM_017780.4(CHD7):c.5050+17C>T
NM_017780.4(CHD7):c.5050+19G>A rs1371167281
NM_017780.4(CHD7):c.5050+1G>C rs1554602466
NM_017780.4(CHD7):c.5050+5G>T
NM_017780.4(CHD7):c.5050+7C>T rs2150793457
NM_017780.4(CHD7):c.5050+9C>G
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5050G>T (p.Gly1684Cys)
NM_017780.4(CHD7):c.5051-17T>A
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5051-20T>A rs1394727727
NM_017780.4(CHD7):c.5051-4C>G rs71640288
NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu) rs2150793887
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) rs1586432209
NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser)
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala) rs2150793920
NM_017780.4(CHD7):c.506C>T (p.Pro169Leu)
NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro)
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn) rs1805156340
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu) rs777744183
NM_017780.4(CHD7):c.5101C>G (p.Gln1701Glu)
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) rs1805157634
NM_017780.4(CHD7):c.5111A>T (p.Gln1704Leu)
NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg) rs373986410
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
NM_017780.4(CHD7):c.5115G>T (p.Pro1705=)
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
NM_017780.4(CHD7):c.5126A>T (p.Asp1709Val) rs768971850
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) rs2150578491
NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys)
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
NM_017780.4(CHD7):c.5167del (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5180A>G (p.Tyr1727Cys)
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.519del (p.Pro174fs) rs1809050272
NM_017780.4(CHD7):c.5201A>G (p.His1734Arg)
NM_017780.4(CHD7):c.5202C>T (p.His1734=) rs1805162254
NM_017780.4(CHD7):c.5202del (p.Cys1735fs)
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
NM_017780.4(CHD7):c.520C>T (p.Pro174Ser)
NM_017780.4(CHD7):c.5210+12G>C
NM_017780.4(CHD7):c.5210+13A>G
NM_017780.4(CHD7):c.5210+14G>C rs570609542
NM_017780.4(CHD7):c.5210+16G>A
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5210+9T>G rs753589296
NM_017780.4(CHD7):c.5211-11T>C
NM_017780.4(CHD7):c.5211-11T>G rs886063036
NM_017780.4(CHD7):c.5211-14G>A
NM_017780.4(CHD7):c.5211-16C>T
NM_017780.4(CHD7):c.5211-16_5211-15del rs771116507
NM_017780.4(CHD7):c.5211-17T>A
NM_017780.4(CHD7):c.5211-18C>A
NM_017780.4(CHD7):c.5211-18C>G rs749368541
NM_017780.4(CHD7):c.5211-18C>T rs749368541
NM_017780.4(CHD7):c.5211-19C>G
NM_017780.4(CHD7):c.5211-19C>T
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G rs1805310365
NM_017780.4(CHD7):c.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys)
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) rs1586437186
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
NM_017780.4(CHD7):c.5256G>A (p.Val1752=) rs1300830933
NM_017780.4(CHD7):c.525G>A (p.Ser175=)
NM_017780.4(CHD7):c.5262A>C (p.Gly1754=)
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His) rs1805312207
NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu) rs2150800547
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
NM_017780.4(CHD7):c.5277G>T (p.Lys1759Asn)
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
NM_017780.4(CHD7):c.529C>T (p.Pro177Ser)
NM_017780.4(CHD7):c.5300+11G>A
NM_017780.4(CHD7):c.5300+12C>T
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5300+8C>A
NM_017780.4(CHD7):c.5300+9G>A
NM_017780.4(CHD7):c.5301-10T>G
NM_017780.4(CHD7):c.5301-16A>C
NM_017780.4(CHD7):c.5301-17T>A
NM_017780.4(CHD7):c.5301-17T>C rs768143056
NM_017780.4(CHD7):c.5301-3C>T
NM_017780.4(CHD7):c.5301-7C>T
NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr)
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
NM_017780.4(CHD7):c.530C>T (p.Pro177Leu)
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
NM_017780.4(CHD7):c.5320C>A (p.Pro1774Thr)
NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg) rs759486970
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys)
NM_017780.4(CHD7):c.5330del (p.Phe1777fs) rs1805335711
NM_017780.4(CHD7):c.5333A>G (p.His1778Arg) rs764082970
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) rs2150801685
NM_017780.4(CHD7):c.5343T>C (p.Val1781=) rs886063037
NM_017780.4(CHD7):c.5345C>T (p.Pro1782Leu) rs891268640
NM_017780.4(CHD7):c.5345del (p.Pro1782fs) rs2150801705
NM_017780.4(CHD7):c.534T>C (p.Pro178=)
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5360A>T (p.Asp1787Val)
NM_017780.4(CHD7):c.5365G>A (p.Glu1789Lys)
NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly)
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) rs559748498
NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser)
NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr)
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5389G>T (p.Gly1797Ter)
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu) rs1805341017
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
NM_017780.4(CHD7):c.5397del (p.Phe1799fs)
NM_017780.4(CHD7):c.539A>C (p.Gln180Pro)
NM_017780.4(CHD7):c.539A>G (p.Gln180Arg)
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn) rs1280305079
NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn)
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) rs1131692039
NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr) rs1131692039
NM_017780.4(CHD7):c.5403T>C (p.His1801=)
NM_017780.4(CHD7):c.5404+10G>T
NM_017780.4(CHD7):c.5404+14C>T rs2150801886
NM_017780.4(CHD7):c.5404+15T>C
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-6G>A
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) rs1805405695
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg)
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter) rs2150804625
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr) rs1001632406
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
NM_017780.4(CHD7):c.5423C>T (p.Ser1808Phe)
NM_017780.4(CHD7):c.5424C>T (p.Ser1808=)
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.542G>A (p.Gly181Asp)
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
NM_017780.4(CHD7):c.5437C>T (p.Pro1813Ser)
NM_017780.4(CHD7):c.5446T>C (p.Cys1816Arg)
NM_017780.4(CHD7):c.5447G>A (p.Cys1816Tyr)
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met)
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser)
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
NM_017780.4(CHD7):c.546C>T (p.His182=)
NM_017780.4(CHD7):c.5475T>A (p.Asp1825Glu)
NM_017780.4(CHD7):c.5479A>G (p.Lys1827Glu)
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)
NM_017780.4(CHD7):c.54T>C (p.Ser18=) rs2150577330
NM_017780.4(CHD7):c.5503G>A (p.Gly1835Arg)
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro)
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) rs2150804893
NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser) rs1563657571
NM_017780.4(CHD7):c.552G>T (p.Gln184His)
NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg) rs753347128
NM_017780.4(CHD7):c.5534+19A>C
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5535-11_5535-8del
NM_017780.4(CHD7):c.5535-19T>C
NM_017780.4(CHD7):c.5535-20T>C rs1394659038
NM_017780.4(CHD7):c.5537G>T (p.Gly1846Val)
NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu)
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) rs2150805748
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile)
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr)
NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala)
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
NM_017780.4(CHD7):c.557_558dup (p.Gln187fs) rs1809054571
NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile)
NM_017780.4(CHD7):c.5586A>G (p.Thr1862=)
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) rs753437069
NM_017780.4(CHD7):c.5588C>T (p.Pro1863Leu)
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly) rs2150805872
NM_017780.4(CHD7):c.5602A>G (p.Ile1868Val)
NM_017780.4(CHD7):c.5607+13G>A
NM_017780.4(CHD7):c.5607+14T>C
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5607+6A>G
NM_017780.4(CHD7):c.5607+7A>G rs1805434580
NM_017780.4(CHD7):c.5608-10T>A
NM_017780.4(CHD7):c.5608-13C>G
NM_017780.4(CHD7):c.5608-20T>A
NM_017780.4(CHD7):c.5608-7T>G
NM_017780.4(CHD7):c.560A>G (p.Gln187Arg)
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp) rs1403279129
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val)
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys)
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5644T>C (p.Ser1882Pro)
NM_017780.4(CHD7):c.5647A>G (p.Met1883Val)
NM_017780.4(CHD7):c.5650G>C (p.Glu1884Gln)
NM_017780.4(CHD7):c.5655del (p.His1886fs)
NM_017780.4(CHD7):c.5656C>T (p.His1886Tyr)
NM_017780.4(CHD7):c.565A>T (p.Met189Leu) rs1809055199
NM_017780.4(CHD7):c.5661C>T (p.Ala1887=)
NM_017780.4(CHD7):c.5665+13A>G rs2150806324
NM_017780.4(CHD7):c.5665+18C>G
NM_017780.4(CHD7):c.5665+1dup rs2150806303
NM_017780.4(CHD7):c.5665+7T>C
NM_017780.4(CHD7):c.5666-13dup
NM_017780.4(CHD7):c.5666-16T>G
NM_017780.4(CHD7):c.5666-18G>A
NM_017780.4(CHD7):c.5666-19T>C rs1805474762
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5666-4C>T
NM_017780.4(CHD7):c.5666-5C>T
NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp) rs1040512288
NM_017780.4(CHD7):c.5667C>G (p.Gly1889=)
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5686G>T (p.Ala1896Ser)
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys)
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg)
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
NM_017780.4(CHD7):c.5725C>T (p.Leu1909=)
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) rs2150807633
NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu)
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) rs2150807679
NM_017780.4(CHD7):c.573C>G (p.Ser191Arg)
NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp) rs2150807703
NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln) rs1024600310
NM_017780.4(CHD7):c.5745G>T (p.Arg1915=)
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) rs749792505
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) rs2150807756
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
NM_017780.4(CHD7):c.5784G>C (p.Gln1928His) rs2150807812
NM_017780.4(CHD7):c.5796G>A (p.Glu1932=)
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) rs773867024
NM_017780.4(CHD7):c.5798C>T (p.Ala1933Val)
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp) rs1809004250
NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu)
NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu) rs1805481811
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly) rs992024213
NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp)
NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro)
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly) rs752539596
NM_017780.4(CHD7):c.5819G>A (p.Arg1940His)
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg)
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) rs757160222
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly) rs757160222
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5842G>A (p.Val1948Met)
NM_017780.4(CHD7):c.5845A>G (p.Arg1949Gly)
NM_017780.4(CHD7):c.584dup (p.Gly196fs)
NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del)
NM_017780.4(CHD7):c.5853_5856delinsT (p.Glu1952del)
NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp) rs755290171
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr) rs1586443930
NM_017780.4(CHD7):c.5875A>C (p.Ile1959Leu)
NM_017780.4(CHD7):c.5875A>G (p.Ile1959Val)
NM_017780.4(CHD7):c.5876T>C (p.Ile1959Thr)
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) rs2150808082
NM_017780.4(CHD7):c.587G>A (p.Gly196Glu)
NM_017780.4(CHD7):c.5886G>A (p.Lys1962=)
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu)
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.5894+14A>C
NM_017780.4(CHD7):c.5894+15G>T
NM_017780.4(CHD7):c.5894+1G>A
NM_017780.4(CHD7):c.5894+1G>T
NM_017780.4(CHD7):c.5894+5G>A rs1805486327
NM_017780.4(CHD7):c.5895-18A>G
NM_017780.4(CHD7):c.5895-18_5895-17insGA rs1805499097
NM_017780.4(CHD7):c.5895-2A>T rs2150808631
NM_017780.4(CHD7):c.5895-5A>T rs1805499680
NM_017780.4(CHD7):c.5895-8T>G rs1220156630
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter) rs2150808654
NM_017780.4(CHD7):c.5901A>G (p.Thr1967=)
NM_017780.4(CHD7):c.5906_5908del (p.Arg1969_Glu1970delinsLys)
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) rs2150808678
NM_017780.4(CHD7):c.5912del (p.Glu1971fs) rs2150808685
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) rs2150808715
NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)
NM_017780.4(CHD7):c.5927G>A (p.Arg1976His)
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
NM_017780.4(CHD7):c.5932G>A (p.Val1978Ile)
NM_017780.4(CHD7):c.5932del (p.Val1978fs) rs1805501026
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn)
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5947G>A (p.Val1983Ile)
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met)
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.5958C>T (p.Asp1986=)
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
NM_017780.4(CHD7):c.5964G>C (p.Val1988=)
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu) rs1805502860
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=) rs2150808862
NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr) rs1064794548
NM_017780.4(CHD7):c.5995del (p.Ala1999fs)
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) rs1809000474
NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr)
NM_017780.4(CHD7):c.6014A>G (p.Lys2005Arg)
NM_017780.4(CHD7):c.6018A>G (p.Lys2006=)
NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly)
NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly)
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) rs1805504949
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
NM_017780.4(CHD7):c.6043T>C (p.Phe2015Leu)
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
NM_017780.4(CHD7):c.604C>A (p.Gln202Lys)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6050G>A (p.Cys2017Tyr)
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.6071G>C (p.Arg2024Pro)
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6085C>A (p.Pro2029Thr) rs1805506718
NM_017780.4(CHD7):c.6090C>A (p.Val2030=) rs2150809096
NM_017780.4(CHD7):c.6103+19A>G
NM_017780.4(CHD7):c.6103+3A>G
NM_017780.4(CHD7):c.6103+9A>G rs1805508072
NM_017780.4(CHD7):c.6104-11C>A
NM_017780.4(CHD7):c.6104-12del
NM_017780.4(CHD7):c.6104-1G>C
NM_017780.4(CHD7):c.6104-2A>T rs1805513214
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)
NM_017780.4(CHD7):c.6122C>T (p.Ser2041Phe)
NM_017780.4(CHD7):c.6124A>G (p.Ile2042Val)
NM_017780.4(CHD7):c.6134C>T (p.Pro2045Leu)
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6138C>T (p.Ile2046=) rs2150809518
NM_017780.4(CHD7):c.6147G>A (p.Glu2049=) rs2150809533
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.614A>C (p.Gln205Pro)
NM_017780.4(CHD7):c.6153C>T (p.Ala2051=) rs759326626
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6158G>A (p.Arg2053Gln)
NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala) rs2150809564
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6170G>A (p.Arg2057His)
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) rs1302545775
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln)
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
NM_017780.4(CHD7):c.6201G>A (p.Gln2067=)
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.6215C>G (p.Pro2072Arg)
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter) rs2150809777
NM_017780.4(CHD7):c.6219G>T (p.Gln2073His)
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) rs1805526666
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
NM_017780.4(CHD7):c.6248C>G (p.Pro2083Arg)
NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn)
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) rs2150809927
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=)
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp)
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=)
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr)
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6289G>C (p.Asp2097His)
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560
NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly)
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.630G>A (p.Met210Ile)
NM_017780.4(CHD7):c.630G>C (p.Met210Ile) rs560742342
NM_017780.4(CHD7):c.6321C>A (p.His2107Gln)
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6324G>A (p.Gly2108=)
NM_017780.4(CHD7):c.6327C>T (p.Val2109=) rs2150810128
NM_017780.4(CHD7):c.6331C>T (p.Arg2111Trp)
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys)
NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) rs1805535866
NM_017780.4(CHD7):c.6343C>T (p.His2115Tyr)
NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met)
NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val)
NM_017780.4(CHD7):c.634C>G (p.Gln212Glu)
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter) rs2150578792
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_017780.4(CHD7):c.6361_6363dup (p.Glu2121_Leu2122insGlu)
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
NM_017780.4(CHD7):c.636G>T (p.Gln212His)
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6371T>G (p.Phe2124Cys)
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr) rs1162346018
NM_017780.4(CHD7):c.6377A>G (p.Asp2126Gly)
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr)
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=)
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg)
NM_017780.4(CHD7):c.6384T>G (p.His2128Gln)
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) rs2150810295
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6405A>T (p.Arg2135Ser)
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) rs1563660814
NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)
NM_017780.4(CHD7):c.6419C>T (p.Thr2140Ile)
NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser)
NM_017780.4(CHD7):c.6435A>G (p.Pro2145=) rs1402557358
NM_017780.4(CHD7):c.6436C>T (p.Leu2146=) rs2150810421
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter) rs2150578812
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly) rs966839733
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu)
NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6463C>G (p.Pro2155Ala)
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser) rs1805544569
NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile)
NM_017780.4(CHD7):c.6466G>T (p.Val2156Phe)
NM_017780.4(CHD7):c.6468C>G (p.Val2156=)
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) rs886063039
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6475T>C (p.Ser2159Pro)
NM_017780.4(CHD7):c.6485T>C (p.Ile2162Thr)
NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser)
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter) rs761214775
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs) rs2150810800
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly) rs1805551737
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met) rs749435288
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu) rs2150810874
NM_017780.4(CHD7):c.6559T>G (p.Cys2187Gly)
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser)
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
NM_017780.4(CHD7):c.6588C>T (p.Thr2196=)
NM_017780.4(CHD7):c.6593G>A (p.Gly2198Asp)
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=)
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=)
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp)
NM_017780.4(CHD7):c.65A>G (p.Glu22Gly)
NM_017780.4(CHD7):c.6600G>A (p.Gly2200=) rs2150811019
NM_017780.4(CHD7):c.6603G>A (p.Lys2201=) rs1586446721
NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn)
NM_017780.4(CHD7):c.6607del (p.Ser2203fs)
NM_017780.4(CHD7):c.6609del (p.Ser2203fs)
NM_017780.4(CHD7):c.660C>T (p.Leu220=) rs1177262261
NM_017780.4(CHD7):c.6615G>C (p.Gln2205His)
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp) rs979421697
NM_017780.4(CHD7):c.6620G>A (p.Cys2207Tyr)
NM_017780.4(CHD7):c.6631G>A (p.Ala2211Thr)
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) rs1398262614
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs) rs2150811163
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
NM_017780.4(CHD7):c.6659G>A (p.Gly2220Asp)
NM_017780.4(CHD7):c.665A>C (p.Gln222Pro)
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
NM_017780.4(CHD7):c.6679A>G (p.Thr2227Ala)
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter) rs1809060881
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro) rs1805566024
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=)
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys) rs554415600
NM_017780.4(CHD7):c.6692C>T (p.Ser2231Phe)
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=)
NM_017780.4(CHD7):c.669A>G (p.Gly223=)
NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr)
NM_017780.4(CHD7):c.6704A>G (p.Lys2235Arg)
NM_017780.4(CHD7):c.6707G>T (p.Gly2236Val)
NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr)
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser) rs1809061303
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu) rs1805568530
NM_017780.4(CHD7):c.6723A>G (p.Glu2241=)
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs) rs2150811416
NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg)
NM_017780.4(CHD7):c.6732G>A (p.Lys2244=)
NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln) rs2150811434
NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro)
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs) rs2150811446
NM_017780.4(CHD7):c.6740A>G (p.Asp2247Gly)
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
NM_017780.4(CHD7):c.6746A>G (p.Asp2249Gly)
NM_017780.4(CHD7):c.6749A>G (p.Lys2250Arg)
NM_017780.4(CHD7):c.674C>T (p.Pro225Leu)
NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu)
NM_017780.4(CHD7):c.6757G>T (p.Glu2253Ter) rs1057517956
NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly) rs1805571750
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu) rs2150811546
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
NM_017780.4(CHD7):c.6775+14A>G
NM_017780.4(CHD7):c.6775+19C>T
NM_017780.4(CHD7):c.6775+1G>A rs1805573066
NM_017780.4(CHD7):c.6775+1G>T rs1805573066
NM_017780.4(CHD7):c.6776-12C>T
NM_017780.4(CHD7):c.6776-13A>G rs2150813272
NM_017780.4(CHD7):c.6776-15T>G
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6776-5C>A
NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr)
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
NM_017780.4(CHD7):c.6782C>A (p.Ala2261Asp)
NM_017780.4(CHD7):c.6784G>A (p.Val2262Ile)
NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu)
NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr)
NM_017780.4(CHD7):c.6808GAA[1] (p.Glu2271del)
NM_017780.4(CHD7):c.6816C>T (p.Ser2272=)
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs) rs1805613575
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) rs745361070
NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val)
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu)
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6842A>T (p.Asp2281Val)
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly) rs587783454
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.685A>C (p.Thr229Pro) rs767816305
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) rs2150813513
NM_017780.4(CHD7):c.6865A>G (p.Met2289Val)
NM_017780.4(CHD7):c.686C>T (p.Thr229Ile)
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr) rs767696409
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.6883_6884insA (p.Ser2295fs)
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu) rs1057518891
NM_017780.4(CHD7):c.6894G>C (p.Gln2298His)
NM_017780.4(CHD7):c.6894G>T (p.Gln2298His)
NM_017780.4(CHD7):c.6895C>A (p.Leu2299Ile)
NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile)
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter) rs1809062715
NM_017780.4(CHD7):c.6908G>A (p.Arg2303Lys)
NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr)
NM_017780.4(CHD7):c.690A>G (p.Ser230=) rs926628835
NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu)
NM_017780.4(CHD7):c.6916G>A (p.Ala2306Thr)
NM_017780.4(CHD7):c.6918C>G (p.Ala2306=)
NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu)
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.692G>C (p.Gly231Ala)
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=)
NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg) rs2150813712
NM_017780.4(CHD7):c.6936+15_6936+18del
NM_017780.4(CHD7):c.6936+19C>T
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6936+7A>T
NM_017780.4(CHD7):c.6936+9G>A
NM_017780.4(CHD7):c.6937-13C>T
NM_017780.4(CHD7):c.6937-19A>G
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly) rs1805682626
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly) rs1427557686
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.6963C>A (p.Asp2321Glu)
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
NM_017780.4(CHD7):c.6981G>T (p.Val2327=)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys) rs2129642460
NM_017780.4(CHD7):c.699C>T (p.Gly233=) rs2150578946
NM_017780.4(CHD7):c.6A>G (p.Ala2=) rs1331575367
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu)
NM_017780.4(CHD7):c.7006A>C (p.Arg2336=)
NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys) rs2129642540
NM_017780.4(CHD7):c.7010G>T (p.Arg2337Leu)
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu) rs1184188163
NM_017780.4(CHD7):c.7038C>T (p.Ile2346=) rs2129642777
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7043G>C (p.Gly2348Ala)
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) rs886063040
NM_017780.4(CHD7):c.7045T>C (p.Tyr2349His)
NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala)
NM_017780.4(CHD7):c.7050A>T (p.Thr2350=)
NM_017780.4(CHD7):c.7053C>T (p.Pro2351=)
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu) rs2129643081
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter) rs1805694320
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=) rs1325869967
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
NM_017780.4(CHD7):c.708C>T (p.Ser236=) rs2150578971
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=) rs2129643396
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His)
NM_017780.4(CHD7):c.7098C>T (p.Leu2366=)
NM_017780.4(CHD7):c.709C>T (p.His237Tyr)
NM_017780.4(CHD7):c.709del (p.His237fs) rs1809063870
NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
NM_017780.4(CHD7):c.7102A>G (p.Met2368Val)
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val) rs531223140
NM_017780.4(CHD7):c.7122T>G (p.Ile2374Met)
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
NM_017780.4(CHD7):c.7127G>A (p.Gly2376Glu)
NM_017780.4(CHD7):c.7128G>A (p.Gly2376=)
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala)
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
NM_017780.4(CHD7):c.7150C>T (p.Pro2384Ser)
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) rs867921812
NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp) rs2129644202
NM_017780.4(CHD7):c.715C>T (p.Pro239Ser)
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter) rs2129644242
NM_017780.4(CHD7):c.7164+14G>C
NM_017780.4(CHD7):c.7164+16T>C
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7165-16T>C
NM_017780.4(CHD7):c.7165-18G>A
NM_017780.4(CHD7):c.7165-1G>A
NM_017780.4(CHD7):c.7165-2A>G
NM_017780.4(CHD7):c.7165-3T>C
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) rs545381857
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe) rs1168283468
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys)
NM_017780.4(CHD7):c.7193G>A (p.Arg2398His)
NM_017780.4(CHD7):c.719A>G (p.Gln240Arg) rs2150579002
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del) rs374380640
NM_017780.4(CHD7):c.7200GAG[6] (p.Arg2405_Lys2406insArg)
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp) rs1805714852
NM_017780.4(CHD7):c.7214G>A (p.Arg2405Lys)
NM_017780.4(CHD7):c.7214_7216dup (p.Arg2405_Lys2406insArg)
NM_017780.4(CHD7):c.7222G>A (p.Glu2408Lys)
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) rs1341064149
NM_017780.4(CHD7):c.722A>G (p.Gln241Arg)
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr)
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe) rs1805719418
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys) rs776169011
NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr)
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) rs1293236067
NM_017780.4(CHD7):c.7267A>T (p.Met2423Leu)
NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile) rs2129648356
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017780.4(CHD7):c.7278G>C (p.Gln2426His)
NM_017780.4(CHD7):c.727C>T (p.Pro243Ser)
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs) rs1805724910
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.72C>G (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.72C>T (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
NM_017780.4(CHD7):c.7304A>G (p.Glu2435Gly)
NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser)
NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys)
NM_017780.4(CHD7):c.7309G>A (p.Gly2437Arg)
NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu)
NM_017780.4(CHD7):c.7310G>T (p.Gly2437Val)
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
NM_017780.4(CHD7):c.7314del (p.Glu2439fs)
NM_017780.4(CHD7):c.7320A>G (p.Lys2440=)
NM_017780.4(CHD7):c.7320del (p.Val2441fs) rs2129649243
NM_017780.4(CHD7):c.7327G>A (p.Asp2443Asn)
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly) rs2129649399
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017780.4(CHD7):c.732C>T (p.Ser244=)
NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn)
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7355C>A (p.Thr2452Lys)
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
NM_017780.4(CHD7):c.7360T>G (p.Ser2454Ala)
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) rs2129650387
NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg)
NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys)
NM_017780.4(CHD7):c.7396A>G (p.Ile2466Val)
NM_017780.4(CHD7):c.739C>T (p.Pro247Ser)
NM_017780.4(CHD7):c.7401G>T (p.Leu2467Phe)
NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser)
NM_017780.4(CHD7):c.7420G>A (p.Val2474Met)
NM_017780.4(CHD7):c.7428T>C (p.Asp2476=) rs886038636
NM_017780.4(CHD7):c.7429G>T (p.Ala2477Ser)
NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu) rs2129651052
NM_017780.4(CHD7):c.7436_7437insATTAA (p.Thr2480fs)
NM_017780.4(CHD7):c.7443A>C (p.Gln2481His)
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7455C>T (p.Leu2485=)
NM_017780.4(CHD7):c.7458A>C (p.Gln2486His)
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) rs2129651419
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) rs1349434680
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro) rs1319276265
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) rs371595770
NM_017780.4(CHD7):c.746T>C (p.Leu249Ser)
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=) rs780608336
NM_017780.4(CHD7):c.7471C>A (p.Arg2491Ser)
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
NM_017780.4(CHD7):c.7477C>T (p.Pro2493Ser)
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
NM_017780.4(CHD7):c.7483A>G (p.Arg2495Gly)
NM_017780.4(CHD7):c.7488T>C (p.His2496=) rs995534410
NM_017780.4(CHD7):c.7489C>T (p.Leu2497Phe)
NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro)
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) rs1026956983
NM_017780.4(CHD7):c.7499G>A (p.Gly2500Asp)
NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val)
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln) rs1805738026
NM_017780.4(CHD7):c.7518G>A (p.Glu2506=)
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser) rs1805738363
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) rs1563665717
NM_017780.4(CHD7):c.7531A>G (p.Arg2511Gly)
NM_017780.4(CHD7):c.7535G>A (p.Arg2512Lys)
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly) rs1805740102
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
NM_017780.4(CHD7):c.7585del (p.His2529fs) rs2129653634
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_017780.4(CHD7):c.7600T>C (p.Leu2534=)
NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser)
NM_017780.4(CHD7):c.7602G>T (p.Leu2534Phe)
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
NM_017780.4(CHD7):c.7608+7dup
NM_017780.4(CHD7):c.7608+8G>A
NM_017780.4(CHD7):c.7608+9G>T rs2129654194
NM_017780.4(CHD7):c.7609-12A>C
NM_017780.4(CHD7):c.7609-18A>G
NM_017780.4(CHD7):c.7609-7T>C rs745569961
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) rs1554581354
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn)
NM_017780.4(CHD7):c.7613A>G (p.Asp2538Gly)
NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val)
NM_017780.4(CHD7):c.7620G>A (p.Glu2540=) rs2129702757
NM_017780.4(CHD7):c.762G>A (p.Gln254=) rs2150579148
NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val)
NM_017780.4(CHD7):c.7633T>G (p.Phe2545Val)
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser) rs1805939500
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7650G>A (p.Glu2550=) rs1173503101
NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser)
NM_017780.4(CHD7):c.7663A>G (p.Arg2555Gly)
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7664G>A (p.Arg2555Lys)
NM_017780.4(CHD7):c.7669A>G (p.Ile2557Val)
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
NM_017780.4(CHD7):c.7674T>G (p.Pro2558=)
NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr) rs2150579155
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter) rs774255090
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7683A>G (p.Gly2561=)
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter) rs1563669203
NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) rs1805943625
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr)
NM_017780.4(CHD7):c.7708C>T (p.Pro2570Ser)
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
NM_017780.4(CHD7):c.7710del (p.Val2571fs) rs2129704530
NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile) rs2129704568
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
NM_017780.4(CHD7):c.7715T>C (p.Ile2572Thr)
NM_017780.4(CHD7):c.7716C>G (p.Ile2572Met)
NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp)
NM_017780.4(CHD7):c.772C>G (p.His258Asp)
NM_017780.4(CHD7):c.7737G>T (p.Arg2579Ser)
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu) rs1408626113
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=) rs2129705530
NM_017780.4(CHD7):c.7768G>A (p.Asp2590Asn)
NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.778C>A (p.Pro260Thr)
NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser) rs1805948281
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala)
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7804A>C (p.Thr2602Pro)
NM_017780.4(CHD7):c.7804A>G (p.Thr2602Ala)
NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile)
NM_017780.4(CHD7):c.780C>T (p.Pro260=) rs2150579200
NM_017780.4(CHD7):c.7810G>C (p.Asp2604His)
NM_017780.4(CHD7):c.7813A>G (p.Met2605Val)
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
NM_017780.4(CHD7):c.7824T>C (p.Tyr2608=)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7830+16T>G
NM_017780.4(CHD7):c.7830+18T>C
NM_017780.4(CHD7):c.7830+20G>A
NM_017780.4(CHD7):c.7830+5G>A
NM_017780.4(CHD7):c.7830+6T>G
NM_017780.4(CHD7):c.7830+8T>C
NM_017780.4(CHD7):c.7831-12T>C
NM_017780.4(CHD7):c.7831-14T>C
NM_017780.4(CHD7):c.7831-17T>C rs777041721
NM_017780.4(CHD7):c.7831-18A>G
NM_017780.4(CHD7):c.7831-20A>G
NM_017780.4(CHD7):c.7831-2A>G
NM_017780.4(CHD7):c.7831-5T>C rs770131922
NM_017780.4(CHD7):c.7834A>C (p.Asn2612His)
NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) rs1586462216
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
NM_017780.4(CHD7):c.784A>G (p.Thr262Ala)
NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro)
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) rs1586462281
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=) rs1338609969
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7883A>G (p.His2628Arg)
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln)
NM_017780.4(CHD7):c.789T>A (p.Ala263=)
NM_017780.4(CHD7):c.789T>C (p.Ala263=)
NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp)
NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=)
NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile)
NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
NM_017780.4(CHD7):c.7936dup (p.Arg2646fs) rs2129721609
NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser)
NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala)
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7956del (p.Lys2652fs) rs2129721740
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
NM_017780.4(CHD7):c.7960A>C (p.Asn2654His)
NM_017780.4(CHD7):c.7967del (p.Lys2656fs) rs2129721927
NM_017780.4(CHD7):c.7971+11G>A rs2129722219
NM_017780.4(CHD7):c.7971+15A>G
NM_017780.4(CHD7):c.7971+17G>A
NM_017780.4(CHD7):c.7971+17G>T
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.7971+6C>G rs769103057
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.7971+8C>T rs1295446479
NM_017780.4(CHD7):c.7972-8C>T
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) rs1806048148
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
NM_017780.4(CHD7):c.7996A>G (p.Met2666Val) rs2129725268
NM_017780.4(CHD7):c.7G>A (p.Asp3Asn)
NM_017780.4(CHD7):c.8004T>C (p.Asp2668=)
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) rs1586462917
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
NM_017780.4(CHD7):c.8013G>A (p.Arg2671=)
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys) rs1586462940
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp)
NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala)
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8054G>A (p.Trp2685Ter)
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala)
NM_017780.4(CHD7):c.8060A>G (p.Asp2687Gly)
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) rs1806054045
NM_017780.4(CHD7):c.8076+10A>G
NM_017780.4(CHD7):c.8076+14G>A rs1251720838
NM_017780.4(CHD7):c.8076+14G>T
NM_017780.4(CHD7):c.8076+16A>G rs1236099189
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8076+6T>C
NM_017780.4(CHD7):c.8077-10T>C
NM_017780.4(CHD7):c.8077-12C>T
NM_017780.4(CHD7):c.8077-17C>T
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser) rs1563673201
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
NM_017780.4(CHD7):c.8094G>A (p.Ser2698=)
NM_017780.4(CHD7):c.8094del (p.Met2699fs)
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys) rs1373315351
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His) rs1563673267
NM_017780.4(CHD7):c.8105G>T (p.Arg2702Leu)
NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) rs952299853
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala) rs1806175791
NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg)
NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg) rs1418830724
NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu)
NM_017780.4(CHD7):c.813C>G (p.His271Gln)
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly)
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=) rs2129757721
NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)
NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln) rs1586467143
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) rs1586467143
NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val) rs113877656
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser)
NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val)
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=) rs2129758283
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser) rs757725468
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu) rs779381935
NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val) rs779381935
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.81T>C (p.Cys27=)
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=)
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) rs1346132011
NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr)
NM_017780.4(CHD7):c.8223C>T (p.Ile2741=)
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg)
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) rs1806181643
NM_017780.4(CHD7):c.8233C>G (p.Leu2745Val) rs2129759389
NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) rs1586467380
NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg)
NM_017780.4(CHD7):c.8249T>C (p.Phe2750Ser)
NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val)
NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu) rs1369699481
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
NM_017780.4(CHD7):c.8267C>T (p.Thr2756Met)
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) rs903775787
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3]) rs747665912
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) rs1286287151
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) rs758898311
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=) rs1196717284
NM_017780.4(CHD7):c.829C>G (p.Pro277Ala)
NM_017780.4(CHD7):c.8304G>C (p.Gln2768His)
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr)
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
NM_017780.4(CHD7):c.8310A>G (p.Ala2770=)
NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe)
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val)
NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr)
NM_017780.4(CHD7):c.831G>A (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>C (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>T (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)
NM_017780.4(CHD7):c.8324T>C (p.Phe2775Ser)
NM_017780.4(CHD7):c.8325C>G (p.Phe2775Leu) rs2129761150
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr)
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) rs1586467620
NM_017780.4(CHD7):c.8339C>T (p.Ala2780Val)
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
NM_017780.4(CHD7):c.8353G>T (p.Ala2785Ser)
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
NM_017780.4(CHD7):c.8360del (p.Gly2787fs) rs2129761877
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
NM_017780.4(CHD7):c.8368A>G (p.Lys2790Glu)
NM_017780.4(CHD7):c.8377G>A (p.Ala2793Thr)
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp) rs1809007164
NM_017780.4(CHD7):c.8407A>G (p.Met2803Val) rs2129762926
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys) rs759567393
NM_017780.4(CHD7):c.8414G>T (p.Gly2805Val)
NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
NM_017780.4(CHD7):c.841C>T (p.Gln281Ter) rs2150579361
NM_017780.4(CHD7):c.8421C>T (p.Pro2807=)
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr) rs368224943
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) rs755563758
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=)
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=)
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys)
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=)
NM_017780.4(CHD7):c.8456del (p.Pro2819fs) rs2129764240
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) rs886040962
NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser)
NM_017780.4(CHD7):c.8468C>T (p.Ala2823Val)
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro) rs1373512004
NM_017780.4(CHD7):c.847G>A (p.Gly283Arg)
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) rs1249032872
NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala)
NM_017780.4(CHD7):c.8483C>G (p.Thr2828Ser)
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8500G>A (p.Gly2834Arg)
NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)
NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly)
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
NM_017780.4(CHD7):c.852T>C (p.Ala284=)
NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup) rs2129765422
NM_017780.4(CHD7):c.853G>A (p.Val285Ile)
NM_017780.4(CHD7):c.8546del (p.Glu2849fs) rs2129765592
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.854T>C (p.Val285Ala)
NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys)
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=) rs2129765778
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
NM_017780.4(CHD7):c.8569T>G (p.Ser2857Ala)
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=) rs1806203830
NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn) rs2129766206
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr) rs2129766536
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8612A>G (p.Asn2871Ser)
NM_017780.4(CHD7):c.8614G>A (p.Gly2872Arg)
NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala)
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8640G>T (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8645G>A (p.Gly2882Glu)
NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val) rs2129767368
NM_017780.4(CHD7):c.8646A>T (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8656A>G (p.Asn2886Asp)
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=) rs1017895981
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr) rs202039728
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile) rs202039728
NM_017780.4(CHD7):c.8674C>G (p.Pro2892Ala) rs1806208860
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017780.4(CHD7):c.868C>G (p.Leu290Val)
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) rs2129768305
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln) rs780993039
NM_017780.4(CHD7):c.8699C>T (p.Pro2900Leu)
NM_017780.4(CHD7):c.86A>G (p.Tyr29Cys)
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
NM_017780.4(CHD7):c.8702del (p.Gly2901fs)
NM_017780.4(CHD7):c.870T>G (p.Leu290=)
NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser)
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) rs1465616826
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg) rs1806214950
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) rs1586469053
NM_017780.4(CHD7):c.878G>A (p.Ser293Asn) rs1809079469
NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu)
NM_017780.4(CHD7):c.8796C>G (p.Gly2932=)
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly) rs1024326558
NM_017780.4(CHD7):c.8800A>T (p.Ser2934Cys)
NM_017780.4(CHD7):c.8804A>T (p.Glu2935Val)
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) rs1563674855
NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn)
NM_017780.4(CHD7):c.881C>G (p.Ser294Cys)
NM_017780.4(CHD7):c.8823G>A (p.Lys2941=)
NM_017780.4(CHD7):c.8829G>C (p.Glu2943Asp)
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
NM_017780.4(CHD7):c.8835A>T (p.Gly2945=)
NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr)
NM_017780.4(CHD7):c.8836C>T (p.Pro2946Ser)
NM_017780.4(CHD7):c.8837C>A (p.Pro2946His)
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu) rs1467824778
NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val)
NM_017780.4(CHD7):c.8847T>C (p.Asp2949=)
NM_017780.4(CHD7):c.8864G>A (p.Gly2955Asp)
NM_017780.4(CHD7):c.8866A>G (p.Ser2956Gly)
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val) rs2129771571
NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys)
NM_017780.4(CHD7):c.8879A>G (p.Glu2960Gly)
NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys)
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
NM_017780.4(CHD7):c.8892G>A (p.Lys2964=) rs375867350
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_017780.4(CHD7):c.8908C>G (p.Leu2970Val)
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
NM_017780.4(CHD7):c.892A>C (p.Thr298Pro)
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)
NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala)
NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val)
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr)
NM_017780.4(CHD7):c.8955T>G (p.Asp2985Glu)
NM_017780.4(CHD7):c.8955dup (p.Gly2986fs)
NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu)
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) rs374004489
NM_017780.4(CHD7):c.8958G>A (p.Gly2986=)
NM_017780.4(CHD7):c.895G>T (p.Val299Phe)
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.8964T>A (p.Asp2988Glu)
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
NM_017780.4(CHD7):c.8978A>G (p.Asn2993Ser)
NM_017780.4(CHD7):c.8979T>G (p.Asn2993Lys)
NM_017780.4(CHD7):c.897C>T (p.Val299=)
NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser)
NM_017780.4(CHD7):c.901T>C (p.Ser301Pro)
NM_017780.4(CHD7):c.902C>T (p.Ser301Phe)
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
NM_017780.4(CHD7):c.920C>G (p.Ser307Ter)
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.926A>G (p.Gln309Arg)
NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017780.4(CHD7):c.935G>C (p.Arg312Pro)
NM_017780.4(CHD7):c.939T>C (p.Tyr313=)
NM_017780.4(CHD7):c.940C>A (p.Pro314Thr)
NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys)
NM_017780.4(CHD7):c.950A>T (p.Asn317Ile)
NM_017780.4(CHD7):c.951C>T (p.Asn317=) rs770785044
NM_017780.4(CHD7):c.967G>A (p.Val323Ile)
NM_017780.4(CHD7):c.972C>A (p.Asn324Lys)
NM_017780.4(CHD7):c.973A>C (p.Asn325His) rs1563561089
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu) rs1809088428
NM_017780.4(CHD7):c.982A>T (p.Met328Leu) rs747112804
NM_017780.4(CHD7):c.988C>A (p.Gln330Lys)
NM_017780.4(CHD7):c.995T>C (p.Leu332Ser)
NM_017780.4(CHD7):c.996A>G (p.Leu332=)
NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)
NM_018077.3(RBM28):c.2182A>T (p.Thr728Ser)
NM_018077.3(RBM28):c.541+1del rs1584663340
NM_018077.3(RBM28):c.946G>T (p.Ala316Ser) rs1427042125
NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser) rs1414538226
NM_018082.6(POLR3B):c.2637dup (p.Leu880fs) rs2137036897
NM_018082.6(POLR3B):c.2818-2A>T rs146836923
NM_018117.12(WDR11):c.1079G>A (p.Ser360Asn)
NM_018117.12(WDR11):c.163dup (p.Gln55fs) rs2133718612
NM_018117.12(WDR11):c.1714G>A (p.Glu572Lys)
NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter) rs1847196520
NM_018117.12(WDR11):c.2149G>A (p.Ala717Thr)
NM_018117.12(WDR11):c.2321C>T (p.Ala774Val)
NM_018117.12(WDR11):c.3023G>A (p.Gly1008Asp)
NM_018117.12(WDR11):c.3050T>A (p.Leu1017Gln)
NM_018117.12(WDR11):c.3220_3223del (p.Asp1074fs)
NM_018117.12(WDR11):c.3226G>A (p.Ala1076Thr)
NM_018117.12(WDR11):c.3665T>C (p.Ile1222Thr)
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter) rs1846091309
NM_018117.12(WDR11):c.859A>G (p.Thr287Ala)
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1051G>A (p.Val351Ile)
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.1480C>A (p.Arg494Ser)
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
NM_019066.5(MAGEL2):c.1601C>G (p.Pro534Arg)
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu) rs1013540105
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1652del (p.Val551fs) rs398122415
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter) rs1566784441
NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter) rs866419580
NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs) rs1595334203
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter) rs1890387347
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1984C>T (p.Gln662Ter)
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter) rs752097874
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) rs2140714298
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs) rs1555374227
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup) rs1566784117
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs) rs1595332359
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup) rs768384701
NM_019066.5(MAGEL2):c.2216del (p.Ser738_Ser739insTer) rs2140714112
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_019066.5(MAGEL2):c.244C>T (p.Pro82Ser)
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser) rs1343066533
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe) rs386781907
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
NM_019066.5(MAGEL2):c.2745dup (p.Asn916fs)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.2768A>G (p.Glu923Gly)
NM_019066.5(MAGEL2):c.2819C>A (p.Pro940His) rs769378200
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.287G>A (p.Gly96Glu)
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) rs2140713056
NM_019066.5(MAGEL2):c.2895G>A (p.Trp965Ter)
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.2941C>T (p.Leu981Phe)
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
NM_019066.5(MAGEL2):c.3110C>A (p.Ala1037Asp) rs776894525
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs) rs1595331427
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333
NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu) rs1131691985
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.3628C>T (p.Gln1210Ter)
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.368C>T (p.Pro123Leu)
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
NM_019066.5(MAGEL2):c.476T>C (p.Met159Thr)
NM_019066.5(MAGEL2):c.477G>A (p.Met159Ile)
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.526G>A (p.Gly176Arg)
NM_019066.5(MAGEL2):c.532C>G (p.Pro178Ala)
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_019066.5(MAGEL2):c.579CCCTCCGGGGACACCGATGGCTCATCCTCC[1] (p.181HPPPPGTPMA[4])
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089
NM_019066.5(MAGEL2):c.739G>A (p.Val247Ile)
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) rs758022116
NM_021728.4(OTX2):c.*648C>G rs886050556
NM_021728.4(OTX2):c.*933C>T rs886050555
NM_021728.4(OTX2):c.*993G>C rs1891845026
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln) rs199799627
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) rs199799627
NM_021728.4(OTX2):c.439G>A (p.Val147Ile)
NM_021728.4(OTX2):c.444G>A (p.Pro148=) rs147896150
NM_021728.4(OTX2):c.464C>G (p.Ala155Gly) rs200171280
NM_021728.4(OTX2):c.706_725del (p.Thr236fs)
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr) rs1594952158
NM_021728.4(OTX2):c.96G>T (p.Pro32=) rs1892046623
NM_022807.5(SNRPN):c.-390-9497_-390-228del
NM_023110.2(FGFR1):c.[2165C>A;2172C>G]
NM_023110.3(FGFR1):c.*1052C>T rs17176088
NM_023110.3(FGFR1):c.*1111C>T rs867360704
NM_023110.3(FGFR1):c.*1124C>G rs561923573
NM_023110.3(FGFR1):c.*1144G>A rs886062911
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*1218T>C rs886062910
NM_023110.3(FGFR1):c.*1616T>G rs886062908
NM_023110.3(FGFR1):c.*1676G>A rs763761019
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.*71A>G rs886062917
NM_023110.3(FGFR1):c.*819T>G rs1814814648
NM_023110.3(FGFR1):c.*845T>C rs886062913
NM_023110.3(FGFR1):c.*958G>A rs537880800
NM_023110.3(FGFR1):c.-116C>T rs1835923576
NM_023110.3(FGFR1):c.-117C>G rs994485282
NM_023110.3(FGFR1):c.-278C>A rs1835944475
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1009G>A (p.Gly337Arg)
NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
NM_023110.3(FGFR1):c.1016A>G (p.Tyr339Cys)
NM_023110.3(FGFR1):c.1018A>G (p.Thr340Ala)
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) rs1064793123
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) rs121909638
NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val) rs1818935081
NM_023110.3(FGFR1):c.1029G>A (p.Ala343=)
NM_023110.3(FGFR1):c.1037C>G (p.Ser346Cys)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.1039A>G (p.Ile347Val)
NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu) rs1818930617
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
NM_023110.3(FGFR1):c.1058C>T (p.Ser353Phe)
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
NM_023110.3(FGFR1):c.1063T>C (p.Trp355Arg)
NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs)
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr) rs2150966948
NM_023110.3(FGFR1):c.1072G>C (p.Val358Leu) rs774768179
NM_023110.3(FGFR1):c.1075C>T (p.Leu359=)
NM_023110.3(FGFR1):c.1079A>T (p.Glu360Val)
NM_023110.3(FGFR1):c.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081+1G>T
NM_023110.3(FGFR1):c.1081+20_1081+22del
NM_023110.3(FGFR1):c.1081+8C>G
NM_023110.3(FGFR1):c.1081+9T>C
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1082-12G>A
NM_023110.3(FGFR1):c.1082-20C>T
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
NM_023110.3(FGFR1):c.111del (p.Val38fs)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)
NM_023110.3(FGFR1):c.1163C>T (p.Ser388Phe)
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) rs376921992
NM_023110.3(FGFR1):c.1171G>A (p.Val391Met)
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
NM_023110.3(FGFR1):c.1196T>C (p.Met399Thr)
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys) rs1817962450
NM_023110.3(FGFR1):c.1231C>T (p.Gln411Ter)
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg) rs2150706408
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1255A>G (p.Lys419Glu)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg) rs1232639613
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) rs2150705198
NM_023110.3(FGFR1):c.1270C>A (p.Arg424Ser)
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1279G>T (p.Val427Leu)
NM_023110.3(FGFR1):c.1285-16C>G
NM_023110.3(FGFR1):c.1285-18C>G
NM_023110.3(FGFR1):c.1285-20G>A
NM_023110.3(FGFR1):c.1285-2A>G
NM_023110.3(FGFR1):c.1285-5T>C
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G
NM_023110.3(FGFR1):c.1285G>T (p.Val429Leu)
NM_023110.3(FGFR1):c.1286T>A (p.Val429Glu)
NM_023110.3(FGFR1):c.1288T>A (p.Ser430Thr)
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1309A>G (p.Met437Val)
NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs)
NM_023110.3(FGFR1):c.1323_1324delinsGG (p.Leu442Val) rs2150677143
NM_023110.3(FGFR1):c.1324C>G (p.Leu442Val)
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu) rs758138124
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe) rs2150675272
NM_023110.3(FGFR1):c.1350C>T (p.Ser450=)
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)
NM_023110.3(FGFR1):c.1359G>C (p.Gly453=)
NM_023110.3(FGFR1):c.1363C>G (p.Pro455Ala)
NM_023110.3(FGFR1):c.136C>T (p.His46Tyr)
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)
NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)
NM_023110.3(FGFR1):c.1393C>T (p.Leu465Phe)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
NM_023110.3(FGFR1):c.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
NM_023110.3(FGFR1):c.1420C>G (p.Pro474Ala)
NM_023110.3(FGFR1):c.1423C>T (p.Arg475Trp) rs2150669975
NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser) rs121909640
NM_023110.3(FGFR1):c.1430+1G>A rs1554552774
NM_023110.3(FGFR1):c.1430+1G>T rs1554552774
NM_023110.3(FGFR1):c.1430+1del
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.1431-10C>T
NM_023110.3(FGFR1):c.1431-19T>A
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T
NM_023110.3(FGFR1):c.1435G>A (p.Val479Ile)
NM_023110.3(FGFR1):c.1441G>A (p.Gly481Ser)
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr) rs397515444
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp) rs515726224
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1471C>T (p.Gln491Ter) rs2150655456
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
NM_023110.3(FGFR1):c.1474G>A (p.Val492Met)
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.148C>T (p.Leu50=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
NM_023110.3(FGFR1):c.1512del (p.Lys504fs) rs1817280576
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs)
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
NM_023110.3(FGFR1):c.1537G>A (p.Val513Met) rs1085307722
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)
NM_023110.3(FGFR1):c.1552+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+16G>T
NM_023110.3(FGFR1):c.1552+1G>T
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552+8A>G
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553-14C>T
NM_023110.3(FGFR1):c.1553-2A>G
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1576T>C (p.Ser526Pro)
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.1612A>G (p.Ile538Val)
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
NM_023110.3(FGFR1):c.1648G>C (p.Ala550Pro)
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr) rs2150964150
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg) rs760702592
NM_023110.3(FGFR1):c.165_171del (p.Arg56fs)
NM_023110.3(FGFR1):c.1663+11dup
NM_023110.3(FGFR1):c.1663+20G>A
NM_023110.3(FGFR1):c.1664-18C>T
NM_023110.3(FGFR1):c.1664-7C>T
NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val) rs2150591908
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg) rs531903077
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)
NM_023110.3(FGFR1):c.1711del (p.Glu571fs) rs1060499663
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.1716C>G (p.Tyr572Ter)
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp) rs1162148796
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
NM_023110.3(FGFR1):c.1743G>A (p.Leu581=)
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)
NM_023110.3(FGFR1):c.1758C>T (p.Asn586=)
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1761_1777del (p.Ser588fs)
NM_023110.3(FGFR1):c.1767C>A (p.His589Gln)
NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr) rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
NM_023110.3(FGFR1):c.1793A>C (p.Lys598Thr)
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del) rs1387712427
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
NM_023110.3(FGFR1):c.17G>T (p.Cys6Phe)
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)
NM_023110.3(FGFR1):c.1810G>A (p.Ala604Thr)
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=) rs374740971
NM_023110.3(FGFR1):c.1820dup (p.Ala608fs) rs1816367128
NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp) rs1816366242
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1829G>A (p.Gly610Asp)
NM_023110.3(FGFR1):c.1829G>T (p.Gly610Val)
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
NM_023110.3(FGFR1):c.1835A>G (p.Glu612Gly)
NM_023110.3(FGFR1):c.1844C>T (p.Ala615Val)
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
NM_023110.3(FGFR1):c.1854+14A>C
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+17C>T
NM_023110.3(FGFR1):c.1854+1G>A
NM_023110.3(FGFR1):c.1854+2T>C
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1854+9C>T
NM_023110.3(FGFR1):c.1854G>T (p.Lys618Asn)
NM_023110.3(FGFR1):c.1855-14_1855-11del
NM_023110.3(FGFR1):c.1855-1G>A rs2150565807
NM_023110.3(FGFR1):c.1855-2A>C
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.1855-3C>T
NM_023110.3(FGFR1):c.1855-5C>T
NM_023110.3(FGFR1):c.1855-8T>C
NM_023110.3(FGFR1):c.185_199del (p.Gln62_Trp66del) rs2150962421
NM_023110.3(FGFR1):c.1862A>C (p.His621Pro) rs2150565397
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro) rs1586113652
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
NM_023110.3(FGFR1):c.1882A>G (p.Asn628Asp)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro)
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs) rs1815805060
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu) rs2150563316
NM_023110.3(FGFR1):c.1909A>G (p.Met637Val) rs2150563224
NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) rs1815800575
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)
NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)
NM_023110.3(FGFR1):c.1937G>A (p.Arg646Gln)
NM_023110.3(FGFR1):c.1944T>C (p.Ile648=)
NM_023110.3(FGFR1):c.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)
NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)
NM_023110.3(FGFR1):c.1976A>G (p.Asn659Ser)
NM_023110.3(FGFR1):c.1977+12C>G
NM_023110.3(FGFR1):c.1977+15G>A
NM_023110.3(FGFR1):c.1977+19G>A
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1977+1G>T
NM_023110.3(FGFR1):c.1977+20C>T
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.1978-15C>T
NM_023110.3(FGFR1):c.1978-17C>T
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln) rs1257312391
NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)
NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)
NM_023110.3(FGFR1):c.2002G>A (p.Ala668Thr)
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.2011G>C (p.Ala671Pro)
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe) rs2150549553
NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)
NM_023110.3(FGFR1):c.2036del (p.His679fs)
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)
NM_023110.3(FGFR1):c.2048+13T>C
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.2049-16C>G
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.2054C>G (p.Ser685Cys)
NM_023110.3(FGFR1):c.2057T>C (p.Phe686Ser)
NM_023110.3(FGFR1):c.2058del (p.Phe686fs)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
NM_023110.3(FGFR1):c.2062G>C (p.Val688Leu) rs1057518060
NM_023110.3(FGFR1):c.2062G>T (p.Val688Leu)
NM_023110.3(FGFR1):c.2067C>T (p.Leu689=)
NM_023110.3(FGFR1):c.206_210dup (p.Val71fs)
NM_023110.3(FGFR1):c.2071T>A (p.Trp691Arg)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile) rs515726225
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2099C>T (p.Pro700Leu)
NM_023110.3(FGFR1):c.2102A>G (p.Tyr701Cys)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg) rs768957161
NM_023110.3(FGFR1):c.2108G>T (p.Gly703Val)
NM_023110.3(FGFR1):c.211G>A (p.Val71Met) rs561300213
NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro) rs1815455535
NM_023110.3(FGFR1):c.2146G>T (p.Gly716Cys)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2150A>G (p.His717Arg)
NM_023110.3(FGFR1):c.2152C>T (p.Arg718Cys)
NM_023110.3(FGFR1):c.2160C>T (p.Asp720=)
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
NM_023110.3(FGFR1):c.2165C>A (p.Pro722His) rs267606805
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
NM_023110.3(FGFR1):c.2186+11G>A
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+17G>A
NM_023110.3(FGFR1):c.2186+20G>A
NM_023110.3(FGFR1):c.2186+2T>G
NM_023110.3(FGFR1):c.2186+9G>A
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2187-15A>G
NM_023110.3(FGFR1):c.2187-16T>C
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-4G>A
NM_023110.3(FGFR1):c.2187-7G>A
NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)
NM_023110.3(FGFR1):c.2191A>G (p.Met731Val)
NM_023110.3(FGFR1):c.2205C>T (p.Asp735=)
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg) rs1554546677
NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.3(FGFR1):c.2215G>T (p.Ala739Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_023110.3(FGFR1):c.2228A>G (p.Gln743Arg)
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2231G>T (p.Arg744Ile)
NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser)
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.2235_2238dup (p.Phe747fs)
NM_023110.3(FGFR1):c.2241C>A (p.Phe747Leu)
NM_023110.3(FGFR1):c.2248C>T (p.Leu750=)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.2283C>T (p.Thr761=)
NM_023110.3(FGFR1):c.2284T>G (p.Ser762Ala)
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
NM_023110.3(FGFR1):c.2292+12C>T
NM_023110.3(FGFR1):c.2292+13G>A
NM_023110.3(FGFR1):c.2292+13G>T
NM_023110.3(FGFR1):c.2292+16C>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2292G>C (p.Gln764His)
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His) rs121909643
NM_023110.3(FGFR1):c.2293-12C>G
NM_023110.3(FGFR1):c.2293-12C>T
NM_023110.3(FGFR1):c.2293-1G>T
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2302G>C (p.Asp768His) rs121909644
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_023110.3(FGFR1):c.2313G>A (p.Met771Ile)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.2334C>G (p.Pro778=)
NM_023110.3(FGFR1):c.233G>A (p.Arg78His)
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
NM_023110.3(FGFR1):c.2360C>T (p.Thr787Met)
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro) rs755160898
NM_023110.3(FGFR1):c.2393A>G (p.His798Arg)
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=) rs573344794
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2412G>T (p.Glu804Asp)
NM_023110.3(FGFR1):c.2413C>T (p.Pro805Ser)
NM_023110.3(FGFR1):c.2423C>G (p.Pro808Arg)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn) rs759376422
NM_023110.3(FGFR1):c.242T>C (p.Ile81Thr)
NM_023110.3(FGFR1):c.2430C>T (p.His810=)
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
NM_023110.3(FGFR1):c.245C>G (p.Thr82Arg)
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
NM_023110.3(FGFR1):c.2460dup (p.Arg821fs) rs1586083500
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del) rs1586375906
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)
NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)
NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)
NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser)
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His) rs1822219907
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)
NM_023110.3(FGFR1):c.309C>T (p.Thr103=)
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
NM_023110.3(FGFR1):c.321G>C (p.Ser107=)
NM_023110.3(FGFR1):c.324C>T (p.Gly108=)
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser) rs2150955298
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
NM_023110.3(FGFR1):c.345_348del (p.Val116fs)
NM_023110.3(FGFR1):c.355dup (p.Ser119fs)
NM_023110.3(FGFR1):c.358+11A>G
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+19C>A
NM_023110.3(FGFR1):c.358+9C>A
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val) rs1161536828
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
NM_023110.3(FGFR1):c.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
NM_023110.3(FGFR1):c.448+15C>G
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro) rs1033377277
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.501A>C (p.Ala167=)
NM_023110.3(FGFR1):c.505C>G (p.Pro169Ala)
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.514A>T (p.Lys172Ter)
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.525G>A (p.Lys175=)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.534C>T (p.Cys178=)
NM_023110.3(FGFR1):c.546G>A (p.Gly182=)
NM_023110.3(FGFR1):c.551dup (p.Asn185fs)
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.564_565delinsTT (p.Arg189Cys)
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)
NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)
NM_023110.3(FGFR1):c.606A>T (p.Arg202Ser) rs2150910084
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)
NM_023110.3(FGFR1):c.621+14C>A
NM_023110.3(FGFR1):c.621+17G>A
NM_023110.3(FGFR1):c.621+18C>A
NM_023110.3(FGFR1):c.621+18C>T
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.622-117_627dup
NM_023110.3(FGFR1):c.622-20C>T
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.622-9del
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys) rs1554564353
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
NM_023110.3(FGFR1):c.626G>A (p.Arg209His)
NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)
NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)
NM_023110.3(FGFR1):c.644T>C (p.Ile215Thr)
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
NM_023110.3(FGFR1):c.670G>C (p.Asp224His)
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp)
NM_023110.3(FGFR1):c.687C>T (p.Thr229=)
NM_023110.3(FGFR1):c.694G>A (p.Val232Met)
NM_023110.3(FGFR1):c.696G>A (p.Val232=)
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter) rs1554594114
NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser) rs121909635
NM_023110.3(FGFR1):c.70del (p.Ser24fs)
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr)
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.745+10C>G
NM_023110.3(FGFR1):c.745+13del
NM_023110.3(FGFR1):c.745+1G>T
NM_023110.3(FGFR1):c.745+2T>A rs1586314855
NM_023110.3(FGFR1):c.746-13C>T
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp) rs2150826896
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)
NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln)
NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn) rs1833133571
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.790A>C (p.Asn264His) rs515726223
NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile)
NM_023110.3(FGFR1):c.805C>T (p.Leu269=)
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.818_819dup (p.Glu274fs)
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)
NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.863A>T (p.Gln288Leu) rs2150818410
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser) rs1820048488
NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)
NM_023110.3(FGFR1):c.91+16G>C
NM_023110.3(FGFR1):c.91+19G>T
NM_023110.3(FGFR1):c.91+20C>T
NM_023110.3(FGFR1):c.92-13G>T
NM_023110.3(FGFR1):c.92-14C>A
NM_023110.3(FGFR1):c.92-19G>A rs753723806
NM_023110.3(FGFR1):c.92-19G>C
NM_023110.3(FGFR1):c.92-1G>T
NM_023110.3(FGFR1):c.92-3C>T rs1822349929
NM_023110.3(FGFR1):c.92-6C>G
NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)
NM_023110.3(FGFR1):c.936+13C>T
NM_023110.3(FGFR1):c.936+7A>G
NM_023110.3(FGFR1):c.937-11G>T
NM_023110.3(FGFR1):c.937-17T>C
NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)
NM_023110.3(FGFR1):c.954C>T (p.Thr318=)
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220
NM_023110.3(FGFR1):c.979_983del (p.His327fs) rs2150757205
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
NM_024574.4(NDNF):c.1035A>C (p.Leu345=) rs3733558
NM_024574.4(NDNF):c.1159del (p.Ile387fs)
NM_024574.4(NDNF):c.1392A>G (p.Ser464=) rs1397645
NM_024574.4(NDNF):c.1406G>A (p.Trp469Ter) rs1726871489
NM_024574.4(NDNF):c.184A>T (p.Lys62Ter) rs1727077385
NM_024574.4(NDNF):c.381del (p.Tyr128fs) rs1726901153
NM_024574.4(NDNF):c.44_45delinsCT (p.Leu15Pro)
NM_024574.4(NDNF):c.825A>C (p.Lys275Asn)
NM_025000.4(DCAF17):c.*1165C>G rs886055109
NM_025000.4(DCAF17):c.*1258dup rs745661005
NM_025000.4(DCAF17):c.*1485AG[1] rs886055111
NM_025000.4(DCAF17):c.*1565del rs560178345
NM_025000.4(DCAF17):c.*2066A>G rs886055113
NM_025000.4(DCAF17):c.*2318C>T rs1696824875
NM_025000.4(DCAF17):c.*2623T>G rs886055115
NM_025000.4(DCAF17):c.*2775G>T rs16859404
NM_025000.4(DCAF17):c.*2965TTC[3] rs886055117
NM_025000.4(DCAF17):c.*3008TTGT[1] rs374810983
NM_025000.4(DCAF17):c.*3107A>G rs1696862024
NM_025000.4(DCAF17):c.*3170A>G rs865846361
NM_025000.4(DCAF17):c.*3453A>G rs747674263
NM_025000.4(DCAF17):c.*3811A>G rs1696888826
NM_025000.4(DCAF17):c.*3835A>G rs886055119
NM_025000.4(DCAF17):c.*808T>A rs886055108
NM_025000.4(DCAF17):c.*864A>G rs1696764439
NM_025000.4(DCAF17):c.-198T>C rs886055104
NM_025000.4(DCAF17):c.-222G>A rs1693603245
NM_025000.4(DCAF17):c.-243C>G rs886055102
NM_025000.4(DCAF17):c.101G>C (p.Gly34Ala) rs1414634112
NM_025000.4(DCAF17):c.102C>T (p.Gly34=)
NM_025000.4(DCAF17):c.1038T>G (p.Tyr346Ter)
NM_025000.4(DCAF17):c.1047T>C (p.Pro349=)
NM_025000.4(DCAF17):c.1052_1058del (p.Ala351fs)
NM_025000.4(DCAF17):c.1068dup (p.His357fs)
NM_025000.4(DCAF17):c.106C>T (p.Leu36=) rs1693699845
NM_025000.4(DCAF17):c.1070A>T (p.His357Leu)
NM_025000.4(DCAF17):c.1071T>C (p.His357=)
NM_025000.4(DCAF17):c.1091+17G>A
NM_025000.4(DCAF17):c.1091+19A>G
NM_025000.4(DCAF17):c.1091+6T>G rs1559289651
NM_025000.4(DCAF17):c.1092-10C>T
NM_025000.4(DCAF17):c.1092-16C>A
NM_025000.4(DCAF17):c.1092-19A>T
NM_025000.4(DCAF17):c.1092-2A>G
NM_025000.4(DCAF17):c.1092-8C>G
NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter)
NM_025000.4(DCAF17):c.109C>A (p.Arg37=)
NM_025000.4(DCAF17):c.1127C>A (p.Ser376Tyr) rs761867442
NM_025000.4(DCAF17):c.1127del (p.Ser376fs)
NM_025000.4(DCAF17):c.1136A>G (p.Gln379Arg)
NM_025000.4(DCAF17):c.115C>T (p.Leu39=)
NM_025000.4(DCAF17):c.1171dup (p.Glu391fs)
NM_025000.4(DCAF17):c.1182+13T>A
NM_025000.4(DCAF17):c.1182+13T>G
NM_025000.4(DCAF17):c.1182+18T>C
NM_025000.4(DCAF17):c.1182+7C>A
NM_025000.4(DCAF17):c.1182+7C>T
NM_025000.4(DCAF17):c.1183-13T>C
NM_025000.4(DCAF17):c.1183-2A>G
NM_025000.4(DCAF17):c.1183-4A>G
NM_025000.4(DCAF17):c.1183-4A>T
NM_025000.4(DCAF17):c.1183-7A>C
NM_025000.4(DCAF17):c.1183-7A>G
NM_025000.4(DCAF17):c.1183-9A>C
NM_025000.4(DCAF17):c.1183-9A>G
NM_025000.4(DCAF17):c.1200T>A (p.Thr400=)
NM_025000.4(DCAF17):c.1204dup (p.Thr402fs) rs1696575671
NM_025000.4(DCAF17):c.1217G>T (p.Arg406Leu)
NM_025000.4(DCAF17):c.1224A>T (p.Val408=) rs993840619
NM_025000.4(DCAF17):c.1231dup (p.Ser411fs)
NM_025000.4(DCAF17):c.1246G>C (p.Asp416His)
NM_025000.4(DCAF17):c.126+11G>A
NM_025000.4(DCAF17):c.126+11G>C
NM_025000.4(DCAF17):c.126+12C>G
NM_025000.4(DCAF17):c.126+15G>A
NM_025000.4(DCAF17):c.126+17C>T
NM_025000.4(DCAF17):c.126+18G>A
NM_025000.4(DCAF17):c.126+19_126+36dup
NM_025000.4(DCAF17):c.126+21del
NM_025000.4(DCAF17):c.126+2T>G
NM_025000.4(DCAF17):c.126+6C>G rs959045013
NM_025000.4(DCAF17):c.126+7G>C
NM_025000.4(DCAF17):c.1260A>G (p.Glu420=)
NM_025000.4(DCAF17):c.1266+13C>T
NM_025000.4(DCAF17):c.1266+15A>G
NM_025000.4(DCAF17):c.1266+17A>G
NM_025000.4(DCAF17):c.1266+19A>G
NM_025000.4(DCAF17):c.1266+20T>A
NM_025000.4(DCAF17):c.1266+4T>C rs1696579172
NM_025000.4(DCAF17):c.1267-13A>G
NM_025000.4(DCAF17):c.1267-17A>G
NM_025000.4(DCAF17):c.1267-18TATC[2]
NM_025000.4(DCAF17):c.1267-2A>C
NM_025000.4(DCAF17):c.1267-9A>G
NM_025000.4(DCAF17):c.127-11A>G
NM_025000.4(DCAF17):c.127-15C>T
NM_025000.4(DCAF17):c.127-18A>G
NM_025000.4(DCAF17):c.127-1G>C
NM_025000.4(DCAF17):c.127-3_127-1delinsAA rs1574303761
NM_025000.4(DCAF17):c.127-3dup
NM_025000.4(DCAF17):c.1271del (p.Phe424fs)
NM_025000.4(DCAF17):c.1275A>G (p.Lys425=)
NM_025000.4(DCAF17):c.1277T>C (p.Ile426Thr)
NM_025000.4(DCAF17):c.1278T>C (p.Ile426=)
NM_025000.4(DCAF17):c.1284C>T (p.Asp428=)
NM_025000.4(DCAF17):c.1318G>A (p.Ala440Thr) rs1043517003
NM_025000.4(DCAF17):c.133A>G (p.Thr45Ala) rs758636084
NM_025000.4(DCAF17):c.1350T>A (p.Ala450=)
NM_025000.4(DCAF17):c.135T>C (p.Thr45=)
NM_025000.4(DCAF17):c.1392A>T (p.Lys464Asn)
NM_025000.4(DCAF17):c.1394G>A (p.Ser465Asn)
NM_025000.4(DCAF17):c.1395C>T (p.Ser465=)
NM_025000.4(DCAF17):c.1401A>G (p.Pro467=)
NM_025000.4(DCAF17):c.1422+13C>T
NM_025000.4(DCAF17):c.1422+17G>A
NM_025000.4(DCAF17):c.1422+18G>A
NM_025000.4(DCAF17):c.1422+18G>T
NM_025000.4(DCAF17):c.1422+19A>G rs745818094
NM_025000.4(DCAF17):c.1422+19A>T
NM_025000.4(DCAF17):c.1422+3G>A
NM_025000.4(DCAF17):c.1422+5G>T rs1314048356
NM_025000.4(DCAF17):c.1422+8G>T
NM_025000.4(DCAF17):c.1423-14G>A
NM_025000.4(DCAF17):c.1423-4A>G
NM_025000.4(DCAF17):c.1423-7G>T
NM_025000.4(DCAF17):c.1425A>G (p.Thr475=)
NM_025000.4(DCAF17):c.1428T>C (p.Tyr476=)
NM_025000.4(DCAF17):c.1433A>T (p.His478Leu) rs1279189246
NM_025000.4(DCAF17):c.1440C>G (p.Val480=) rs763716716
NM_025000.4(DCAF17):c.144G>C (p.Lys48Asn)
NM_025000.4(DCAF17):c.1458G>A (p.Leu486=)
NM_025000.4(DCAF17):c.1459G>C (p.Val487Leu)
NM_025000.4(DCAF17):c.1467C>T (p.His489=)
NM_025000.4(DCAF17):c.1469T>C (p.Ile490Thr) rs1696719528
NM_025000.4(DCAF17):c.1473G>A (p.Glu491=) rs1325785761
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) rs778488574
NM_025000.4(DCAF17):c.1502A>G (p.Tyr501Cys)
NM_025000.4(DCAF17):c.1502A>T (p.Tyr501Phe) rs192590459
NM_025000.4(DCAF17):c.1504G>A (p.Val502Ile)
NM_025000.4(DCAF17):c.1512G>A (p.Gln504=)
NM_025000.4(DCAF17):c.1525A>C (p.Thr509Pro)
NM_025000.4(DCAF17):c.1527T>G (p.Thr509=)
NM_025000.4(DCAF17):c.1530G>C (p.Gly510=)
NM_025000.4(DCAF17):c.1540G>C (p.Glu514Gln)
NM_025000.4(DCAF17):c.1557C>T (p.Ser519=)
NM_025000.4(DCAF17):c.1560T>C (p.Cys520=)
NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)
NM_025000.4(DCAF17):c.174T>C (p.Pro58=)
NM_025000.4(DCAF17):c.180C>G (p.Ala60=)
NM_025000.4(DCAF17):c.181T>C (p.Tyr61His) rs1321628221
NM_025000.4(DCAF17):c.18G>C (p.Lys6Asn)
NM_025000.4(DCAF17):c.1A>G (p.Met1Val)
NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)
NM_025000.4(DCAF17):c.207C>T (p.Asp69=)
NM_025000.4(DCAF17):c.210T>C (p.Asn70=)
NM_025000.4(DCAF17):c.214C>A (p.Arg72=)
NM_025000.4(DCAF17):c.217C>T (p.Arg73Cys)
NM_025000.4(DCAF17):c.21C>G (p.Pro7=)
NM_025000.4(DCAF17):c.21C>T (p.Pro7=)
NM_025000.4(DCAF17):c.230+10del
NM_025000.4(DCAF17):c.230+11A>G
NM_025000.4(DCAF17):c.230+13T>C
NM_025000.4(DCAF17):c.230+14del
NM_025000.4(DCAF17):c.230+17_230+18insT
NM_025000.4(DCAF17):c.230+18A>T
NM_025000.4(DCAF17):c.230+3A>G
NM_025000.4(DCAF17):c.230+9_230+10del
NM_025000.4(DCAF17):c.231-4C>T
NM_025000.4(DCAF17):c.231-7T>C rs759690510
NM_025000.4(DCAF17):c.231-8T>A
NM_025000.4(DCAF17):c.231-9T>G
NM_025000.4(DCAF17):c.240T>G (p.Ser80=)
NM_025000.4(DCAF17):c.249A>G (p.Arg83=)
NM_025000.4(DCAF17):c.258T>C (p.Tyr86=) rs754236793
NM_025000.4(DCAF17):c.261A>G (p.Glu87=)
NM_025000.4(DCAF17):c.262A>T (p.Met88Leu)
NM_025000.4(DCAF17):c.270del (p.Lys90fs) rs879253799
NM_025000.4(DCAF17):c.270dup (p.Cys91fs) rs879253799
NM_025000.4(DCAF17):c.276C>G (p.Ser92=)
NM_025000.4(DCAF17):c.27G>T (p.Val9=)
NM_025000.4(DCAF17):c.289del (p.Lys96_Ile97insTer)
NM_025000.4(DCAF17):c.289dup (p.Ile97fs) rs863224865
NM_025000.4(DCAF17):c.294G>A (p.Glu98=)
NM_025000.4(DCAF17):c.2T>C (p.Met1Thr)
NM_025000.4(DCAF17):c.300T>A (p.Ala100=)
NM_025000.4(DCAF17):c.306A>G (p.Leu102=)
NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)
NM_025000.4(DCAF17):c.321+11T>C
NM_025000.4(DCAF17):c.321+12T>C
NM_025000.4(DCAF17):c.321+13T>A rs1390287931
NM_025000.4(DCAF17):c.321+15T>C
NM_025000.4(DCAF17):c.321+18A>T
NM_025000.4(DCAF17):c.321+20C>A
NM_025000.4(DCAF17):c.321+20C>T rs202131890
NM_025000.4(DCAF17):c.322-12T>C
NM_025000.4(DCAF17):c.322-14_322-11del rs753818890
NM_025000.4(DCAF17):c.322-14del rs201494527
NM_025000.4(DCAF17):c.322-15T>C
NM_025000.4(DCAF17):c.322-15_322-14insTT rs139655160
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025000.4(DCAF17):c.322-16C>T
NM_025000.4(DCAF17):c.322-17_322-16insG
NM_025000.4(DCAF17):c.322-18C>A
NM_025000.4(DCAF17):c.322-19T>C
NM_025000.4(DCAF17):c.322-19TC[2] rs771200708
NM_025000.4(DCAF17):c.322-2A>G
NM_025000.4(DCAF17):c.322-3del
NM_025000.4(DCAF17):c.322-3dup rs372539451
NM_025000.4(DCAF17):c.322-4_322-3del
NM_025000.4(DCAF17):c.322-5_322-3dup
NM_025000.4(DCAF17):c.322-7T>G rs2105750441
NM_025000.4(DCAF17):c.322-8T>G
NM_025000.4(DCAF17):c.330A>T (p.Ile110=)
NM_025000.4(DCAF17):c.339T>A (p.Asn113Lys) rs1204025103
NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter) rs760978794
NM_025000.4(DCAF17):c.363C>G (p.Leu121=)
NM_025000.4(DCAF17):c.364A>T (p.Ile122Leu)
NM_025000.4(DCAF17):c.371T>G (p.Leu124Arg) rs2105750705
NM_025000.4(DCAF17):c.378T>C (p.Ala126=)
NM_025000.4(DCAF17):c.384T>C (p.Asn128=)
NM_025000.4(DCAF17):c.394C>T (p.Arg132Cys)
NM_025000.4(DCAF17):c.395G>C (p.Arg132Pro)
NM_025000.4(DCAF17):c.411G>A (p.Thr137=)
NM_025000.4(DCAF17):c.413del (p.Gly138fs)
NM_025000.4(DCAF17):c.423T>C (p.Leu141=) rs1574340240
NM_025000.4(DCAF17):c.435T>C (p.Tyr145=)
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025000.4(DCAF17):c.441A>G (p.Ala147=)
NM_025000.4(DCAF17):c.447T>C (p.Tyr149=)
NM_025000.4(DCAF17):c.458+19T>C
NM_025000.4(DCAF17):c.458+7A>G
NM_025000.4(DCAF17):c.458+8C>T
NM_025000.4(DCAF17):c.459-13A>G
NM_025000.4(DCAF17):c.459A>G (p.Arg153=)
NM_025000.4(DCAF17):c.45C>T (p.Arg15=)
NM_025000.4(DCAF17):c.483A>G (p.Gln161=)
NM_025000.4(DCAF17):c.48G>A (p.Arg16=)
NM_025000.4(DCAF17):c.495A>G (p.Ala165=) rs2105753390
NM_025000.4(DCAF17):c.504A>C (p.Ser168=)
NM_025000.4(DCAF17):c.504A>G (p.Ser168=)
NM_025000.4(DCAF17):c.507T>C (p.Ala169=)
NM_025000.4(DCAF17):c.50del (p.Ala17fs) rs1559245286
NM_025000.4(DCAF17):c.51G>A (p.Ala17=)
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
NM_025000.4(DCAF17):c.52C>A (p.Leu18Met) rs1693684988
NM_025000.4(DCAF17):c.52C>T (p.Leu18=)
NM_025000.4(DCAF17):c.531C>T (p.Ala177=)
NM_025000.4(DCAF17):c.535C>T (p.Gln179Ter)
NM_025000.4(DCAF17):c.537+1G>T
NM_025000.4(DCAF17):c.537+20C>G
NM_025000.4(DCAF17):c.537+7A>G
NM_025000.4(DCAF17):c.537+8_537+21del rs747625728
NM_025000.4(DCAF17):c.538-16T>C
NM_025000.4(DCAF17):c.539dup (p.Gly181fs)
NM_025000.4(DCAF17):c.548A>G (p.Gln183Arg) rs2105761550
NM_025000.4(DCAF17):c.549A>G (p.Gln183=)
NM_025000.4(DCAF17):c.554_555del (p.His185fs)
NM_025000.4(DCAF17):c.564G>A (p.Leu188=) rs762999248
NM_025000.4(DCAF17):c.573A>G (p.Ala191=)
NM_025000.4(DCAF17):c.576G>A (p.Val192=)
NM_025000.4(DCAF17):c.576G>C (p.Val192=)
NM_025000.4(DCAF17):c.578dup (p.Arg194fs)
NM_025000.4(DCAF17):c.579C>T (p.Phe193=)
NM_025000.4(DCAF17):c.57C>T (p.Gly19=)
NM_025000.4(DCAF17):c.588A>G (p.Leu196=)
NM_025000.4(DCAF17):c.588A>T (p.Leu196=)
NM_025000.4(DCAF17):c.591T>A (p.Pro197=)
NM_025000.4(DCAF17):c.597A>G (p.Ser199=)
NM_025000.4(DCAF17):c.600T>C (p.Leu200=)
NM_025000.4(DCAF17):c.605G>A (p.Gly202Glu) rs1695054550
NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter) rs2105706833
NM_025000.4(DCAF17):c.60C>T (p.Cys20=)
NM_025000.4(DCAF17):c.627+10C>A
NM_025000.4(DCAF17):c.627+11A>G
NM_025000.4(DCAF17):c.627+13T>C
NM_025000.4(DCAF17):c.627+17T>C
NM_025000.4(DCAF17):c.627+19T>C
NM_025000.4(DCAF17):c.627+8C>T rs2105761847
NM_025000.4(DCAF17):c.628-11C>A
NM_025000.4(DCAF17):c.628-20T>C
NM_025000.4(DCAF17):c.628-2A>C
NM_025000.4(DCAF17):c.628-5G>A
NM_025000.4(DCAF17):c.628-6C>T
NM_025000.4(DCAF17):c.628-6del
NM_025000.4(DCAF17):c.630T>C (p.Ile210=)
NM_025000.4(DCAF17):c.639C>T (p.Asn213=) rs755304811
NM_025000.4(DCAF17):c.640G>A (p.Val214Ile)
NM_025000.4(DCAF17):c.646G>C (p.Asp216His)
NM_025000.4(DCAF17):c.654C>G (p.Thr218=)
NM_025000.4(DCAF17):c.673_674del (p.Ile225fs)
NM_025000.4(DCAF17):c.69C>T (p.Arg23=)
NM_025000.4(DCAF17):c.702A>G (p.Arg234=)
NM_025000.4(DCAF17):c.705C>G (p.Leu235=)
NM_025000.4(DCAF17):c.705_706del (p.Leu235_Tyr236insTer)
NM_025000.4(DCAF17):c.723C>T (p.Ile241=)
NM_025000.4(DCAF17):c.732+11C>T
NM_025000.4(DCAF17):c.732+16A>G
NM_025000.4(DCAF17):c.732+18T>G
NM_025000.4(DCAF17):c.732+19T>C
NM_025000.4(DCAF17):c.732+20G>A
NM_025000.4(DCAF17):c.732+70del rs58636477
NM_025000.4(DCAF17):c.732+70dup rs58636477
NM_025000.4(DCAF17):c.732+9A>G
NM_025000.4(DCAF17):c.733-16T>C
NM_025000.4(DCAF17):c.733-1G>C
NM_025000.4(DCAF17):c.733-20T>A
NM_025000.4(DCAF17):c.733-22TTTTG[2] rs775577850
NM_025000.4(DCAF17):c.744G>A (p.Gln248=)
NM_025000.4(DCAF17):c.751_755del (p.Asp251fs)
NM_025000.4(DCAF17):c.759G>A (p.Gly253=)
NM_025000.4(DCAF17):c.759G>C (p.Gly253=)
NM_025000.4(DCAF17):c.764C>G (p.Ala255Gly)
NM_025000.4(DCAF17):c.786T>C (p.Thr262=)
NM_025000.4(DCAF17):c.78C>A (p.Gly26=)
NM_025000.4(DCAF17):c.79G>A (p.Val27Met)
NM_025000.4(DCAF17):c.80T>G (p.Val27Gly)
NM_025000.4(DCAF17):c.810T>C (p.Phe270=)
NM_025000.4(DCAF17):c.81G>A (p.Val27=)
NM_025000.4(DCAF17):c.81G>C (p.Val27=)
NM_025000.4(DCAF17):c.826A>G (p.Ile276Val)
NM_025000.4(DCAF17):c.838+11del
NM_025000.4(DCAF17):c.838+12C>G
NM_025000.4(DCAF17):c.838+14A>C
NM_025000.4(DCAF17):c.838+25dup
NM_025000.4(DCAF17):c.839-14T>A
NM_025000.4(DCAF17):c.839-19C>A
NM_025000.4(DCAF17):c.839-9T>C
NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) rs868533593
NM_025000.4(DCAF17):c.861G>A (p.Glu287=)
NM_025000.4(DCAF17):c.864G>A (p.Val288=)
NM_025000.4(DCAF17):c.870C>A (p.Ser290=)
NM_025000.4(DCAF17):c.870C>G (p.Ser290=)
NM_025000.4(DCAF17):c.873G>A (p.Leu291=)
NM_025000.4(DCAF17):c.87G>A (p.Gln29=)
NM_025000.4(DCAF17):c.893G>A (p.Gly298Glu)
NM_025000.4(DCAF17):c.894_906del (p.Gly299fs)
NM_025000.4(DCAF17):c.90G>A (p.Arg30=)
NM_025000.4(DCAF17):c.915C>T (p.Ile305=)
NM_025000.4(DCAF17):c.919A>C (p.Thr307Pro)
NM_025000.4(DCAF17):c.925A>G (p.Asn309Asp) rs1696080658
NM_025000.4(DCAF17):c.948T>C (p.Val316=)
NM_025000.4(DCAF17):c.948T>G (p.Val316=)
NM_025000.4(DCAF17):c.959G>T (p.Cys320Phe) rs1696082466
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.95A>T (p.Asn32Ile)
NM_025000.4(DCAF17):c.966A>G (p.Leu322=)
NM_025000.4(DCAF17):c.97C>T (p.Leu33=)
NM_025000.4(DCAF17):c.981+15A>G
NM_025000.4(DCAF17):c.981+16G>A
NM_025000.4(DCAF17):c.981+16G>T
NM_025000.4(DCAF17):c.981+22_981+23del
NM_025000.4(DCAF17):c.982-18A>G
NM_025000.4(DCAF17):c.982-20A>T
NM_025000.4(DCAF17):c.986A>C (p.Lys329Thr) rs1363225398
NM_025000.4(DCAF17):c.994A>G (p.Ile332Val)
NM_025000.4(DCAF17):c.9G>T (p.Pro3=)
NM_032551.5(KISS1R):c.233A>G (p.Asn78Ser)
NM_032551.5(KISS1R):c.244+6del
NM_032551.5(KISS1R):c.749T>A (p.Leu250Gln) rs752689988
NM_032551.5(KISS1R):c.82A>C (p.Asn28His) rs2145316796
NM_033163.5(FGF8):c.118T>C (p.Phe40Leu) rs137852661
NM_033163.5(FGF8):c.157-14T>C
NM_033163.5(FGF8):c.157-6C>G rs2065069146
NM_033163.5(FGF8):c.195G>C (p.Val65=)
NM_033163.5(FGF8):c.237C>G (p.Leu79=) rs606231408
NM_033163.5(FGF8):c.278A>G (p.His93Arg)
NM_033163.5(FGF8):c.298A>G (p.Lys100Glu) rs137852662
NM_033163.5(FGF8):c.335_337+2del rs2065066261
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033163.5(FGF8):c.379C>T (p.Arg127Ter) rs137852663
NM_033163.5(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.5(FGF8):c.40C>A (p.His14Asn) rs137852659
NM_033163.5(FGF8):c.445-62G>A rs3218238
NM_033163.5(FGF8):c.628_629dup (p.His211fs) rs1554834303
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033343.4(LHX4):c.*17C>A rs116482990
NM_033343.4(LHX4):c.*17C>T rs116482990
NM_033343.4(LHX4):c.*221G>T rs1648926689
NM_033343.4(LHX4):c.*26C>T rs138054044
NM_033343.4(LHX4):c.*280T>C rs1648929835
NM_033343.4(LHX4):c.*460G>C rs988330056
NM_033343.4(LHX4):c.*8T>C rs1320121590
NM_033343.4(LHX4):c.-172A>G rs376657735
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) rs121912644
NM_033343.4(LHX4):c.269C>G (p.Thr90Arg) rs773975101
NM_033343.4(LHX4):c.293dup (p.Thr99fs) rs587776662
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) rs1553282666
NM_033343.4(LHX4):c.364C>T (p.Arg122Trp)
NM_033343.4(LHX4):c.37_39del (p.Val13del)
NM_033343.4(LHX4):c.451+15C>T rs886045598
NM_033343.4(LHX4):c.451G>C (p.Asp151His)
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842
NM_033343.4(LHX4):c.486C>A (p.Thr162=) rs183432227
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) rs121912643
NM_033343.4(LHX4):c.601G>A (p.Val201Ile)
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489
NM_033343.4(LHX4):c.607-1G>C rs748268631
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) rs201275928
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) rs2149266749
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) rs121912641
NM_033343.4(LHX4):c.689G>A (p.Ser230Asn)
NM_033343.4(LHX4):c.694A>G (p.Lys232Glu)
NM_033343.4(LHX4):c.743A>T (p.Asp248Val)
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)
NM_033343.4(LHX4):c.83C>T (p.Pro28Leu) rs886045597
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp) rs147491286
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_144773.4(PROKR2):c.1000G>A (p.Val334Met)
NM_144773.4(PROKR2):c.1004C>T (p.Thr335Met)
NM_144773.4(PROKR2):c.100G>A (p.Asp34Asn)
NM_144773.4(PROKR2):c.1010dup (p.Asn338fs)
NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) rs2122203627
NM_144773.4(PROKR2):c.1025A>G (p.Lys342Arg)
NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu) rs368145317
NM_144773.4(PROKR2):c.1050G>A (p.Leu350=) rs779816527
NM_144773.4(PROKR2):c.1056G>A (p.Trp352Ter)
NM_144773.4(PROKR2):c.1069C>G (p.Arg357Gly)
NM_144773.4(PROKR2):c.1091A>G (p.Asp364Gly)
NM_144773.4(PROKR2):c.1106C>T (p.Thr369Ile)
NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.1131_1136del (p.Glu377_Val378del)
NM_144773.4(PROKR2):c.1154G>T (p.Ter385Leu)
NM_144773.4(PROKR2):c.201C>A (p.Cys67Ter)
NM_144773.4(PROKR2):c.201C>T (p.Cys67=)
NM_144773.4(PROKR2):c.208G>T (p.Gly70Cys)
NM_144773.4(PROKR2):c.213C>G (p.Asn71Lys)
NM_144773.4(PROKR2):c.229G>A (p.Ala77Thr)
NM_144773.4(PROKR2):c.239G>A (p.Arg80His)
NM_144773.4(PROKR2):c.239G>T (p.Arg80Leu)
NM_144773.4(PROKR2):c.242A>G (p.Tyr81Cys)
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu) rs74315418
NM_144773.4(PROKR2):c.278C>T (p.Ala93Val)
NM_144773.4(PROKR2):c.295G>A (p.Asp99Asn)
NM_144773.4(PROKR2):c.324del (p.Phe109fs)
NM_144773.4(PROKR2):c.328G>A (p.Glu110Lys) rs756998275
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_144773.4(PROKR2):c.383G>T (p.Cys128Phe)
NM_144773.4(PROKR2):c.385G>A (p.Ala129Thr)
NM_144773.4(PROKR2):c.404G>C (p.Arg135Pro)
NM_144773.4(PROKR2):c.410T>C (p.Val137Ala)
NM_144773.4(PROKR2):c.437T>C (p.Leu146Ser)
NM_144773.4(PROKR2):c.466G>A (p.Ala156Thr)
NM_144773.4(PROKR2):c.472G>A (p.Val158Ile)
NM_144773.4(PROKR2):c.525C>A (p.Ala175=) rs3746683
NM_144773.4(PROKR2):c.538G>A (p.Val180Met) rs543677594
NM_144773.4(PROKR2):c.551T>C (p.Ile184Thr)
NM_144773.4(PROKR2):c.584C>T (p.Thr195Met)
NM_144773.4(PROKR2):c.586G>A (p.Val196Ile)
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144773.4(PROKR2):c.604A>G (p.Ser202Gly)
NM_144773.4(PROKR2):c.606C>G (p.Ser202Arg)
NM_144773.4(PROKR2):c.676T>G (p.Phe226Val)
NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg) rs1600577387
NM_144773.4(PROKR2):c.70C>T (p.Leu24Phe)
NM_144773.4(PROKR2):c.725G>A (p.Cys242Tyr) rs1404173625
NM_144773.4(PROKR2):c.75C>T (p.Ser25=)
NM_144773.4(PROKR2):c.790C>T (p.Arg264Cys)
NM_144773.4(PROKR2):c.796C>T (p.Arg266Trp)
NM_144773.4(PROKR2):c.797G>T (p.Arg266Leu) rs143647776
NM_144773.4(PROKR2):c.808C>T (p.Arg270Cys)
NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys) rs779117079
NM_144773.4(PROKR2):c.823C>A (p.Leu275Met)
NM_144773.4(PROKR2):c.834G>A (p.Met278Ile)
NM_144773.4(PROKR2):c.877G>A (p.Gly293Ser)
NM_144773.4(PROKR2):c.889G>T (p.Val297Phe) rs139399061
NM_144773.4(PROKR2):c.892C>T (p.Arg298Cys)
NM_144773.4(PROKR2):c.902T>A (p.Phe301Tyr)
NM_144773.4(PROKR2):c.916G>A (p.Val306Met)
NM_144773.4(PROKR2):c.916G>T (p.Val306Leu)
NM_144773.4(PROKR2):c.935T>C (p.Leu312Pro)
NM_144773.4(PROKR2):c.937A>G (p.Thr313Ala)
NM_144773.4(PROKR2):c.940G>A (p.Ala314Thr)
NM_144773.4(PROKR2):c.948C>G (p.Tyr316Ter)
NM_144773.4(PROKR2):c.949G>A (p.Val317Met)
NM_144773.4(PROKR2):c.969G>A (p.Met323Ile) rs74315419
NM_144773.4(PROKR2):c.97T>C (p.Tyr33His) rs886037916
NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe) rs2043530237
NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser) rs1684498900
NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile)
NM_175737.4(KLB):c.878A>T (p.Lys293Met)
NM_178138.6(LHX3):c.*1063C>T rs1564280053
NM_178138.6(LHX3):c.*31C>G rs776792156
NM_178138.6(LHX3):c.*409G>T rs886063699
NM_178138.6(LHX3):c.*501A>T rs886063698
NM_178138.6(LHX3):c.*518G>A rs545939943
NM_178138.6(LHX3):c.*570C>A rs1588623321
NM_178138.6(LHX3):c.*692C>T rs1831495899
NM_178138.6(LHX3):c.*715C>A rs1831495471
NM_178138.6(LHX3):c.*719C>T rs1831495385
NM_178138.6(LHX3):c.*956C>T rs886063695
NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro)
NM_178138.6(LHX3):c.1092C>T (p.Asn364=) rs886063702
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) rs1341469393
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter) rs137854506
NM_178138.6(LHX3):c.152G>A (p.Trp51Ter)
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.251+148T>C rs1886296
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter) rs2131034777
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs) rs137854504
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys) rs104894117
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)
NM_178138.6(LHX3):c.452_454+20del rs587776711
NM_178138.6(LHX3):c.528C>G (p.Tyr176Ter)
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg) rs2131032901
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430
NM_178138.6(LHX3):c.597C>T (p.Arg199=) rs369145566
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_178138.6(LHX3):c.622C>T (p.Arg208Cys) rs1280467564
NM_178138.6(LHX3):c.629C>T (p.Ala210Val) rs137854503
NM_178138.6(LHX3):c.634_636del (p.Glu212del)
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter) rs137854505
NM_178138.6(LHX3):c.737A>G (p.Gln246Arg) rs886063704
NM_178138.6(LHX3):c.79+1813G>C rs886063706
NM_178138.6(LHX3):c.79+1927G>A rs1831682631
NM_178138.6(LHX3):c.79+1989G>C
NM_178138.6(LHX3):c.80-2A>G rs2131036410
NM_178138.6(LHX3):c.80-530_776-454del
NM_178138.6(LHX3):c.804G>A (p.Pro268=) rs771201500
NM_178138.6(LHX3):c.819C>T (p.Tyr273=) rs373923718
NM_178138.6(LHX3):c.908_909del (p.Pro303fs)
NM_178138.6(LHX3):c.915G>A (p.Gln305=) rs548140963
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup) rs2131036367
NM_178138.6(LHX3):c.963dup (p.Ala322fs)
NM_178138.6(LHX3):c.96del (p.Gly33fs) rs587776712
NM_178822.5(IGSF10):c.182G>A (p.Arg61His)
NM_181303.2(NLGN3):c.366G>A (p.Trp122Ter)
NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg) rs398124654
NM_198391.3(FLRT3):c.1727C>T (p.Ala576Val)
NM_198391.3(FLRT3):c.999G>A (p.Met333Ile)
NM_207037.2(TCF12):c.1376T>A (p.Leu459Ter)
NM_207037.2(TCF12):c.1490_1491del (p.Ser497fs)
NM_207037.2(TCF12):c.1621_1622del (p.Glu541fs)
NM_207037.2(TCF12):c.1727C>A (p.Ser576Ter)
NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp) rs1191340189
NM_207037.2(TCF12):c.1924del (p.Ile643fs)
NM_207037.2(TCF12):c.20dup (p.Met8fs)
NM_207037.2(TCF12):c.222+1G>A
NM_207037.2(TCF12):c.465dup (p.Tyr156fs)
NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr) rs1472835365
NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) rs794728000
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) rs148642312
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)
NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) rs387907369
NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)
NM_207111.4(RNF216):c.1del (p.Met1fs)
NM_207111.4(RNF216):c.202-1G>C rs1562451985
NM_207111.4(RNF216):c.2044A>C (p.Asn682His) rs2128629393
NM_207111.4(RNF216):c.2061+3A>G rs2128629356
NM_207111.4(RNF216):c.2061G>A (p.Lys687=) rs730882248
NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys) rs1335215379
NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) rs387907368
NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn) rs1012568298
NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala) rs2128567359
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) rs1449103875
NM_207111.4(RNF216):c.2686G>T (p.Val896Phe) rs141327139
NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)
NM_207111.4(RNF216):c.615_616del (p.Glu205fs) rs387907370
NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)
NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) rs373785974
NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)
NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)
NR0B1, 1-BP INS, 430G
SOX3, DUP
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.