ClinVar Miner

List of variants reported as likely benign by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4933
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77329
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_206933.4(USH2A):c.1644+34A>C rs7515253 0.28314
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
NM_206933.4(USH2A):c.11711+71A>T rs6694510 0.25144
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24865
NM_000492.4(CFTR):c.274-179G>A rs1429566 0.24654
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_005957.5(MTHFR):c.1167-76G>T rs12121543 0.20910
NM_000492.4(CFTR):c.1767-136T>C rs11978434 0.20764
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_000382.3(ALDH3A2):c.940+53C>G rs1800869 0.19359
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_000154.2(GALK1):c.1108-40C>T rs743554 0.16712
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_000102.4(CYP17A1):c.1243+83C>A rs284849 0.15759
NM_001673.5(ASNS):c.1238+142G>C rs17279084 0.15016
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_022124.6(CDH23):c.4846-79G>A rs41281328 0.13922
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_022124.6(CDH23):c.3431-205A>C rs12240855 0.12869
NM_022124.6(CDH23):c.3431-133T>C rs12263420 0.12860
NM_000091.5(COL4A3):c.889-39T>C rs28470865 0.11238
NM_001142800.2(EYS):c.3568+99C>A rs62415853 0.10485
NM_000543.5(SMPD1):c.1487-36C>T rs11601088 0.10436
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_001142800.2(EYS):c.7723+64T>A rs72886371 0.08145
NM_033305.3(VPS13A):c.615+20G>C rs17723908 0.07780
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000128.4(F11):c.1717-48A>G rs5966 0.06916
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.06563
NM_206933.4(USH2A):c.11231+45C>T rs17025373 0.06476
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000091.5(COL4A3):c.2021-54T>C rs55643512 0.06366
NM_000091.5(COL4A3):c.280-40T>G rs11386485 0.06240
NM_000091.5(COL4A3):c.687+103T>A rs55997063 0.06185
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) rs17202961 0.05021
NM_004035.7(ACOX1):c.269+4780G>A rs3744032 0.05018
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04804
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.03789
NM_020320.5(RARS2):c.535+60T>C rs35056836 0.03193
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_006096.4(NDRG1):c.389+82G>T rs2233329 0.03173
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_015166.4(MLC1):c.177+77G>A rs55751312 0.02752
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_004068.4(AP2M1):c.1293T>C (p.Tyr431=) rs13262 0.02508
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_001130987.2(DYSF):c.889-34C>T rs115184725 0.01903
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) rs56411234 0.01782
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_004425.4(ECM1):c.366C>T (p.His122=) rs74352693 0.01468
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_032888.4(COL27A1):c.3878C>T (p.Thr1293Met) rs116496505 0.01423
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001232.3(CASQ2):c.-206T>C rs112210550 0.01359
NM_000110.4(DPYD):c.681-8C>T rs74774246 0.01331
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000337.6(SGCD):c.*3898C>T rs74717343 0.01308
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_145868.2(ANXA11):c.456C>T (p.Tyr152=) rs34003188 0.01293
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=) rs113799188 0.01266
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_000091.5(COL4A3):c.3882+132T>C rs11677093 0.01240
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_001394062.1(MACF1):c.13641A>G (p.Glu4547=) rs6673570 0.01135
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001394062.1(MACF1):c.2793C>T (p.Val931=) rs74718295 0.01044
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_001394062.1(MACF1):c.2307G>C (p.Leu769=) rs116026083 0.01027
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp) rs150225445 0.00984
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_020699.4(GATAD2B):c.1038C>T (p.Ala346=) rs114813239 0.00905
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001130987.2(DYSF):c.3228+208A>C rs143560409 0.00838
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) rs41317517 0.00813
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_004425.4(ECM1):c.1100A>T (p.Asp367Val) rs151102225 0.00732
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_025137.4(SPG11):c.*243A>G rs116069609 0.00669
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_018489.3(ASH1L):c.2330G>A (p.Arg777His) rs74353643 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met) rs74127835 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00612
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_015100.4(POGZ):c.3237C>T (p.His1079=) rs149003420 0.00605
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) rs72649573 0.00591
NM_000243.3(MEFV):c.1760-97G>A rs11466044 0.00589
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_015100.4(POGZ):c.357A>G (p.Thr119=) rs145173739 0.00547
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_018122.5(DARS2):c.228-21_228-20insC rs367543010 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00486
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000546.6(TP53):c.672+31A>G rs34949160 0.00479
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001205293.3(CACNA1E):c.6008G>A (p.Arg2003His) rs189129701 0.00461
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_058163.3(TSR2):c.234T>C (p.Asp78=) rs36032873 0.00445
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883 0.00438
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_018136.5(ASPM):c.-28G>A rs111299108 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00399
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541 0.00384
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln) rs202202209 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=) rs147586507 0.00361
NM_001256864.2(DNAJC6):c.194-5G>T rs753576283 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val) rs114270813 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_001365999.1(SZT2):c.8499+8A>C rs182225944 0.00297
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703 0.00259
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_001256864.2(DNAJC6):c.194-18T>G rs201249130 0.00252
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) rs41317483 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln) rs148579379 0.00236
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861 0.00222
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607 0.00218
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn) rs149690630 0.00215
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) rs190363418 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_018489.3(ASH1L):c.5175G>A (p.Glu1725=) rs72993423 0.00205
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) rs35413340 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562 0.00193
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_019032.6(ADAMTSL4):c.2580G>A (p.Thr860=) rs150680122 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00186
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln) rs149629527 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_002506.3(NGF):c.78C>T (p.Val26=) rs150188752 0.00177
NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp) rs140949383 0.00177
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe) rs146289506 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys) rs149086653 0.00161
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00159
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_000110.4(DPYD):c.2180-3T>C rs74104343 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=) rs35648144 0.00154
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_194292.3(SASS6):c.873G>C (p.Arg291=) rs61747274 0.00154
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=) rs41307884 0.00147
NM_015100.4(POGZ):c.2634C>G (p.Ser878=) rs138843201 0.00146
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_015100.4(POGZ):c.2913G>A (p.Glu971=) rs113903415 0.00143
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_031935.3(HMCN1):c.2372-3C>T rs186546131 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=) rs142901935 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_015978.3(TNNI3K):c.969A>G (p.Lys323=) rs141955645 0.00136
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser) rs143701798 0.00133
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg) rs144311414 0.00133
NM_019032.6(ADAMTSL4):c.1007G>A (p.Gly336Asp) rs142354320 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) rs149469954 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met) rs59558623 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407 0.00123
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_002016.2(FLG):c.9151C>T (p.Arg3051Trp) rs775324468 0.00119
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn) rs60950503 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu) rs143504255 0.00116
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_015978.3(TNNI3K):c.1772G>C (p.Ser591Thr) rs145260115 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_001184.4(ATR):c.6726T>C (p.His2242=) rs56030954 0.00113
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011 0.00113
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335 0.00112
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) rs147995526 0.00111
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646 0.00109
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) rs144384070 0.00108
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=) rs144894118 0.00106
NM_002506.3(NGF):c.284G>A (p.Arg95His) rs150136942 0.00106
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_002529.4(NTRK1):c.611C>T (p.Ser204Leu) rs148324672 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949 0.00103
NM_198576.4(AGRN):c.1188G>A (p.Pro396=) rs138841641 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001330677.2(TBX15):c.980G>A (p.Arg327His) rs141002143 0.00101
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_001365999.1(SZT2):c.7975-10C>T rs181831231 0.00100
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) rs151079411 0.00091
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_001184.4(ATR):c.7632T>A (p.Arg2544=) rs144427735 0.00090
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=) rs140309222 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln) rs137997761 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_001368809.2(AMPD2):c.1699-11T>C rs188035528 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_018136.5(ASPM):c.2420-20G>A rs191404122 0.00087
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381 0.00086
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=) rs142535471 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_001184.4(ATR):c.195C>T (p.Ser65=) rs139304565 0.00082
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_031935.3(HMCN1):c.13231-4A>G rs191690433 0.00081
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001365999.1(SZT2):c.9555C>T (p.His3185=) rs150150240 0.00079
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00079
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_004525.3(LRP2):c.8070G>A (p.Lys2690=) rs144284604 0.00078
NM_015100.4(POGZ):c.1104C>T (p.Asp368=) rs557650703 0.00078
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_020822.3(KCNT1):c.1619+18C>T rs183348093 0.00074
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001130987.2(DYSF):c.3228+205C>A rs149264392 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585 0.00071
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_004525.3(LRP2):c.1176C>T (p.Gly392=) rs369145798 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_015627.3(LDLRAP1):c.711G>A (p.Pro237=) rs112914959 0.00070
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_001184.4(ATR):c.5931A>G (p.Gln1977=) rs150964938 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu) rs191359537 0.00068
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) rs147037435 0.00067
NM_001365999.1(SZT2):c.9732G>A (p.Pro3244=) rs200250871 0.00066
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) rs141068435 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001365999.1(SZT2):c.1488G>A (p.Thr496=) rs370045267 0.00064
NM_002529.4(NTRK1):c.2142C>T (p.Gly714=) rs145139769 0.00064
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_015627.3(LDLRAP1):c.432C>T (p.His144=) rs200840583 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_001365999.1(SZT2):c.7641C>T (p.His2547=) rs144699351 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_001184.4(ATR):c.5601T>C (p.Leu1867=) rs138891875 0.00062
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_004525.3(LRP2):c.11264-14C>G rs377424162 0.00062
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) rs150618921 0.00061
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095 0.00060
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000110.4(DPYD):c.1701A>T (p.Gly567=) rs148372305 0.00058
NM_015100.4(POGZ):c.2559A>G (p.Ile853Met) rs150453554 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_001365999.1(SZT2):c.9201C>T (p.His3067=) rs114396679 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_001365999.1(SZT2):c.1791C>T (p.His597=) rs151110718 0.00055
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968 0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_015100.4(POGZ):c.2310C>T (p.Tyr770=) rs142133690 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000546.6(TP53):c.783-33T>C rs113302588 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=) rs139775124 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) rs143885684 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534 0.00049
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001394062.1(MACF1):c.13779G>C (p.Leu4593=) rs147972692 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) rs143665535 0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys) rs115191959 0.00047
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00047
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) rs139514301 0.00047
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001365999.1(SZT2):c.9828C>T (p.Asp3276=) rs12756587 0.00046
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00046
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227 0.00046
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) rs140559544 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) rs145179638 0.00045
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_001377299.1(NDUFS2):c.1116+20A>G rs200063148 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004525.3(LRP2):c.2320+9G>A rs368933798 0.00044
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_001184.4(ATR):c.7411C>T (p.Leu2471=) rs150286172 0.00041
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile) rs150382715 0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_019032.6(ADAMTSL4):c.3179G>A (p.Arg1060His) rs147697821 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_015100.4(POGZ):c.70G>A (p.Val24Ile) rs144510238 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_018122.5(DARS2):c.580G>A (p.Val194Ile) rs186723843 0.00040
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 0.00040
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=) rs202215313 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561 0.00039
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) rs146783211 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_001365999.1(SZT2):c.5937C>T (p.His1979=) rs149717460 0.00038
NM_001365999.1(SZT2):c.6582A>G (p.Thr2194=) rs145802078 0.00038
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp) rs141532484 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=) rs146053295 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_020699.4(GATAD2B):c.240C>T (p.Asn80=) rs180690623 0.00037
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_001184.4(ATR):c.3372A>G (p.Gln1124=) rs142903351 0.00036
NM_001367561.1(DOCK7):c.4368G>A (p.Glu1456=) rs149367921 0.00036
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=) rs1450163641 0.00036
NM_014159.7(SETD2):c.7500C>T (p.Thr2500=) rs148499835 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=) rs145742052 0.00036
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_015602.4(TOR1AIP1):c.965-10del rs769057969 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501 0.00034
NM_000642.3(AGL):c.3589-19C>T rs368244330 0.00034
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) rs141727314 0.00034
NM_014625.4(NPHS2):c.534+13A>T rs192539858 0.00034
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_030787.4(CFHR5):c.465T>C (p.Asn155=) rs139260377 0.00034
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) rs61754517 0.00033
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086 0.00033
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935 0.00033
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=) rs143354033 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=) rs147146700 0.00031
NM_004525.3(LRP2):c.1731G>A (p.Arg577=) rs142698246 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014625.4(NPHS2):c.144C>T (p.Ser48=) rs111306764 0.00031
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys) rs201066146 0.00031
NM_018685.5(ANLN):c.173-16A>G rs181560875 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_001365999.1(SZT2):c.2499C>T (p.Phe833=) rs777334279 0.00030
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_004525.3(LRP2):c.3551-9C>A rs373882047 0.00030
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_020822.3(KCNT1):c.2008+7C>T rs372707698 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=) rs41305094 0.00030
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001367561.1(DOCK7):c.6018G>A (p.Glu2006=) rs143414077 0.00029
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr) rs149629433 0.00028
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=) rs143760252 0.00028
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_000337.6(SGCD):c.193-17T>G rs201079829 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_001365999.1(SZT2):c.1335A>T (p.Ala445=) rs377411973 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010 0.00027
NM_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_002529.4(NTRK1):c.574+10G>A rs201336491 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_020822.3(KCNT1):c.759+13G>A rs375237065 0.00026
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396 0.00026
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810 0.00025
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00025
NM_001205293.3(CACNA1E):c.617-16C>T rs113730525 0.00025
NM_001367561.1(DOCK7):c.156C>T (p.Thr52=) rs147045113 0.00025
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 0.00025
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_000243.3(MEFV):c.1677C>T (p.Leu559=) rs144672997 0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001184.4(ATR):c.4267-12A>G rs374421247 0.00024
NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile) rs368636412 0.00024
NM_001205293.3(CACNA1E):c.6483C>T (p.Pro2161=) rs370456526 0.00024
NM_001365999.1(SZT2):c.1296G>A (p.Leu432=) rs769656441 0.00024
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=) rs371970036 0.00024
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510 0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_025137.4(SPG11):c.1457-20A>C rs376343587 0.00024
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=) rs139701970 0.00024
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365999.1(SZT2):c.8148A>G (p.Glu2716=) rs199826167 0.00023
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_018122.5(DARS2):c.1345-16C>T rs200214952 0.00023
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_001367561.1(DOCK7):c.2113-18A>G rs201000785 0.00022
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp) rs139125255 0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=) rs376599965 0.00021
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001365999.1(SZT2):c.1458T>C (p.Arg486=) rs376484331 0.00021
NM_001365999.1(SZT2):c.528T>C (p.Pro176=) rs780340130 0.00021
NM_001367561.1(DOCK7):c.4653T>C (p.Ala1551=) rs150922364 0.00021
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00021
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020822.3(KCNT1):c.1620-17C>T rs376069264 0.00021
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144 0.00021
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618 0.00021
NM_022356.4(P3H1):c.1740G>A (p.Lys580=) rs201381243 0.00021
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.6325+13G>A rs368490585 0.00021
NM_206933.4(USH2A):c.7491G>T (p.Val2497=) rs142143100 0.00021
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met) rs371974841 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu) rs566701744 0.00019
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=) rs150464677 0.00019
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015100.4(POGZ):c.2493C>G (p.Ala831=) rs149634988 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_020822.3(KCNT1):c.3027+18C>T rs369541323 0.00019
NM_020822.3(KCNT1):c.3178-16G>T rs55906268 0.00019
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022367.4(SEMA4A):c.426C>T (p.Cys142=) rs371685429 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_032756.4(HPDL):c.1017G>A (p.Glu339=) rs148694275 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_002529.4(NTRK1):c.927G>A (p.Pro309=) rs144015813 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_004525.3(LRP2):c.8073C>T (p.His2691=) rs146772976 0.00018
NM_005633.4(SOS1):c.1489C>A (p.Arg497=) rs542368621 0.00018
NM_015100.4(POGZ):c.1557C>T (p.Leu519=) rs141026698 0.00018
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=) rs148555951 0.00018
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000455.5(STK11):c.597+8C>T rs565387911 0.00017
NM_000546.6(TP53):c.648G>C (p.Val216=) rs199693249 0.00017
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 0.00016
NM_000372.5(TYR):c.573A>G (p.Gly191=) rs372123800 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00016
NM_000642.3(AGL):c.3700+14A>G rs368141566 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_001010898.4(SLC6A17):c.1287C>T (p.Asp429=) rs151152223 0.00016
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001365999.1(SZT2):c.2788C>T (p.Leu930=) rs148208657 0.00016
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) rs373992628 0.00016
NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=) rs532810601 0.00016
NM_001367561.1(DOCK7):c.3717C>G (p.Ala1239=) rs375372678 0.00016
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=) rs373928701 0.00016
NM_001367561.1(DOCK7):c.5208A>T (p.Val1736=) rs144604663 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=) rs140195786 0.00016
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_015100.4(POGZ):c.3863C>T (p.Ala1288Val) rs149655055 0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_018136.5(ASPM):c.6514G>A (p.Val2172Ile) rs370590014 0.00016
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=) rs779442940 0.00016
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145 0.00016
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448 0.00016
NM_022455.5(NSD1):c.-8G>A rs199639292 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001182.5(ALDH7A1):c.1416-11T>C rs577675361 0.00015
NM_001184.4(ATR):c.2088C>T (p.Val696=) rs202050285 0.00015
NM_001184.4(ATR):c.3888T>C (p.Asn1296=) rs143268462 0.00015
NM_001365999.1(SZT2):c.9795G>C (p.Leu3265=) rs569613488 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_020822.3(KCNT1):c.2350-10C>T rs367855961 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.3708+19C>T rs371590712 0.00014
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00014
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357 0.00014
NM_001184.4(ATR):c.3183A>G (p.Glu1061=) rs138025798 0.00014
NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=) rs1364900476 0.00014
NM_001365999.1(SZT2):c.2034C>T (p.His678=) rs201529142 0.00014
NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) rs146416049 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020699.4(GATAD2B):c.1455C>T (p.Leu485=) rs767666551 0.00014
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768 0.00014
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782 0.00014
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_022356.4(P3H1):c.435C>G (p.Pro145=) rs759352609 0.00014
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe) rs188107197 0.00014
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158 0.00014
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_153700.2(STRC):c.3555G>A (p.Leu1185=) rs2597064 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) rs397517997 0.00014
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn) rs751990617 0.00013
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_001042492.3(NF1):c.2002-9G>T rs376197466 0.00013
NM_001042492.3(NF1):c.2838C>T (p.Asp946=) rs147188807 0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) rs372935996 0.00013
NM_001374828.1(ARID1B):c.417C>G (p.Gly139=) rs555625059 0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser) rs200427185 0.00013
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001365999.1(SZT2):c.7671C>T (p.Ile2557=) rs201311847 0.00012
NM_001365999.1(SZT2):c.9630C>T (p.Arg3210=) rs773985024 0.00012
NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) rs750968694 0.00012
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=) rs201793817 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 0.00012
NM_018136.5(ASPM):c.4066-32T>C rs143351980 0.00012
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019 0.00012
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=) rs150282853 0.00012
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) rs369778429 0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983 0.00011
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000455.5(STK11):c.900C>T (p.Ile300=) rs546089394 0.00011
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) rs768684515 0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_001042492.3(NF1):c.960T>A (p.Ala320=) rs376447070 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001184.4(ATR):c.4944C>G (p.Ser1648=) rs200668215 0.00011
NM_001184.4(ATR):c.7839G>A (p.Pro2613=) rs371176601 0.00011
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_001205293.3(CACNA1E):c.3731+13G>A rs372306099 0.00011
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001276345.2(TNNT2):c.852-19C>T rs759855940 0.00011
NM_001365999.1(SZT2):c.3838G>A (p.Ala1280Thr) rs141075866 0.00011
NM_001365999.1(SZT2):c.5910G>C (p.Leu1970=) rs151260299 0.00011
NM_001365999.1(SZT2):c.6306C>G (p.Ser2102=) rs1009175468 0.00011
NM_001367561.1(DOCK7):c.4056A>G (p.Ser1352=) rs144949335 0.00011
NM_001377299.1(NDUFS2):c.393+12G>A rs180970484 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921 0.00011
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461 0.00011
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=) rs201155152 0.00011
NM_004525.3(LRP2):c.5553C>T (p.His1851=) rs369998522 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_015627.3(LDLRAP1):c.849C>T (p.Tyr283=) rs147242385 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_018136.5(ASPM):c.502A>C (p.Arg168=) rs147527791 0.00011
NM_019032.6(ADAMTSL4):c.3178C>G (p.Arg1060Gly) rs145169593 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_022455.5(NSD1):c.436A>G (p.Ile146Val) rs745885259 0.00011
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906 0.00011
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349 0.00011
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) rs200287425 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000548.5(TSC2):c.*5G>A rs201342697 0.00010
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240 0.00010
NM_000642.3(AGL):c.1284-4A>G rs372612377 0.00010
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr) rs142822925 0.00010
NM_001276345.2(TNNT2):c.852-23A>G rs371692788 0.00010
NM_001365999.1(SZT2):c.1881C>T (p.Phe627=) rs749921213 0.00010
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_002529.4(NTRK1):c.1161C>T (p.Pro387=) rs536619715 0.00010
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003640.5(ELP1):c.3708A>G (p.Val1236=) rs368761085 0.00010
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=) rs148473513 0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=) rs374380173 0.00010
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_005633.4(SOS1):c.1269C>T (p.Asn423=) rs138459502 0.00010
NM_005633.4(SOS1):c.1566T>C (p.Asn522=) rs145325119 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_018136.5(ASPM):c.3083-11T>C rs372375601 0.00010
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=) rs143680877 0.00010
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg) rs3738501 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000049.4(ASPA):c.906G>A (p.Thr302=) rs371394875 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00009
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729 0.00009
NM_001042492.3(NF1):c.2325+16C>G rs371709563 0.00009
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001184.4(ATR):c.276C>G (p.Ala92=) rs369461039 0.00009
NM_001184.4(ATR):c.7488T>C (p.Asn2496=) rs369200535 0.00009
NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys) rs201030442 0.00009
NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln) rs749565023 0.00009
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=) rs397516481 0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu) rs373408367 0.00009
NM_001365999.1(SZT2):c.5142C>T (p.Ile1714=) rs756050426 0.00009
NM_001365999.1(SZT2):c.8295C>T (p.Asp2765=) rs181686875 0.00009
NM_001365999.1(SZT2):c.8725C>T (p.Leu2909=) rs111662559 0.00009
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=) rs754242891 0.00009
NM_001377299.1(NDUFS2):c.1213-20C>T rs139327184 0.00009
NM_001377299.1(NDUFS2):c.39C>A (p.Val13=) rs139722814 0.00009
NM_001918.5(DBT):c.556-7T>C rs755448648 0.00009
NM_002529.4(NTRK1):c.575-16C>T rs143312136 0.00009
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) rs540751200 0.00009
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_004525.3(LRP2):c.12296-4G>A rs375166826 0.00009
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu) rs775420649 0.00009
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_005633.4(SOS1):c.2510+19C>G rs375675348 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_014795.4(ZEB2):c.3219C>T (p.His1073=) rs139944383 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) rs543454612 0.00009
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_019032.6(ADAMTSL4):c.1179C>T (p.Ala393=) rs182053027 0.00009
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850 0.00009
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) rs375051877 0.00009
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile) rs35597015 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_152281.3(GORAB):c.719G>A (p.Arg240His) rs149924639 0.00009
NM_201253.3(CRB1):c.1305A>T (p.Gly435=) rs34813822 0.00009
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) rs369335995 0.00009
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) rs138064171 0.00009
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) rs143683292 0.00009
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938 0.00008
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338 0.00008
NM_001042492.3(NF1):c.2238T>C (p.Asn746=) rs768161162 0.00008
NM_001042492.3(NF1):c.5497C>T (p.Leu1833=) rs372932380 0.00008
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001182.5(ALDH7A1):c.1201-8T>C rs558579795 0.00008
NM_001184.4(ATR):c.4447T>C (p.Leu1483=) rs577577577 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser) rs1284163110 0.00008
NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg) rs148719824 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=) rs376421930 0.00008
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln) rs754653742 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001365999.1(SZT2):c.6351C>T (p.Leu2117=) rs370166503 0.00008
NM_001365999.1(SZT2):c.7069T>C (p.Leu2357=) rs771086530 0.00008
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_006493.4(CLN5):c.120C>T (p.Gly40=) rs370320230 0.00008
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015100.4(POGZ):c.2451C>T (p.Cys817=) rs778929923 0.00008
NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter) rs201061482 0.00008
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_019032.6(ADAMTSL4):c.1492C>T (p.Leu498=) rs149722020 0.00008
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448 0.00008
NM_020822.3(KCNT1):c.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=) rs371632359 0.00008
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150 0.00008
NM_020822.3(KCNT1):c.434+10G>A rs187872786 0.00008
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) rs377684553 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032861.4(SERAC1):c.1403+11C>T rs369586400 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_133433.4(NIPBL):c.6590-9C>T rs201043922 0.00008
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000455.5(STK11):c.863-16G>A rs373096204 0.00007
NM_000546.6(TP53):c.993+310G>A rs201293647 0.00007
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832 0.00007
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.3727C>T (p.Leu1243=) rs750993436 0.00007
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=) rs148662566 0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001184.4(ATR):c.3327C>T (p.Gly1109=) rs147717467 0.00007
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys) rs376475241 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365999.1(SZT2):c.2256-10C>T rs747740233 0.00007
NM_001365999.1(SZT2):c.3489G>A (p.Lys1163=) rs149793909 0.00007
NM_001365999.1(SZT2):c.9287-8T>C rs183871754 0.00007
NM_002529.4(NTRK1):c.2229A>C (p.Gly743=) rs756505247 0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) rs186484839 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp) rs184969664 0.00007
NM_020822.3(KCNT1):c.1036-12T>G rs113079797 0.00007
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992 0.00007
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266 0.00007
NM_020822.3(KCNT1):c.1769+8C>T rs371287985 0.00007
NM_020822.3(KCNT1):c.1770-15G>A rs746828967 0.00007
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404 0.00007
NM_020822.3(KCNT1):c.435-12G>C rs367739886 0.00007
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) rs184081240 0.00007
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) rs777803742 0.00007
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00006
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367 0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000098.3(CPT2):c.201A>C (p.Ala67=) rs747516495 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000455.5(STK11):c.734+17C>G rs751929304 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000546.6(TP53):c.97-28T>A rs200989844 0.00006
NM_000546.6(TP53):c.993+234G>A rs17883348 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742 0.00006
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly) rs369553241 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.648+6T>C rs372007135 0.00006
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706 0.00006
NM_000642.3(AGL):c.293+3A>G rs375459662 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_001006658.3(CR2):c.276T>G (p.Pro92=) rs371546344 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001042492.3(NF1):c.1186-19T>A rs772566923 0.00006
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.393A>C (p.Ala131=) rs761086521 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001111.5(ADAR):c.57C>T (p.Gly19=) rs137983302 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001184.4(ATR):c.6126T>C (p.Leu2042=) rs200445478 0.00006
NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=) rs368794137 0.00006
NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln) rs199820931 0.00006
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val) rs570189573 0.00006
NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr) rs756661624 0.00006
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=) rs375614479 0.00006
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=) rs147184856 0.00006
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=) rs45525839 0.00006
NM_001276345.2(TNNT2):c.489+18C>T rs377743847 0.00006
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=) rs727503515 0.00006
NM_001365999.1(SZT2):c.1191C>T (p.Ala397=) rs772072313 0.00006
NM_001365999.1(SZT2):c.2409G>A (p.Pro803=) rs180810470 0.00006
NM_001365999.1(SZT2):c.3306C>T (p.Ser1102=) rs370803181 0.00006
NM_001365999.1(SZT2):c.390C>T (p.Gly130=) rs187131803 0.00006
NM_001365999.1(SZT2):c.6738C>T (p.Leu2246=) rs374441368 0.00006
NM_001365999.1(SZT2):c.7479G>A (p.Ala2493=) rs751309639 0.00006
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=) rs777808688 0.00006
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002506.3(NGF):c.393C>T (p.Gly131=) rs778162180 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.1419+5G>A rs199814381 0.00006
NM_003072.5(SMARCA4):c.2438+10C>T rs370782232 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_004525.3(LRP2):c.630C>T (p.Asp210=) rs368336310 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014625.4(NPHS2):c.723C>T (p.Ile241=) rs778145792 0.00006
NM_014625.4(NPHS2):c.852G>A (p.Ala284=) rs371664350 0.00006
NM_014625.4(NPHS2):c.885A>G (p.Ala295=) rs146940071 0.00006
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly) rs748354087 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=) rs763572841 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.681C>T (p.Ser227=) rs140901487 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_018136.5(ASPM):c.4914G>A (p.Val1638=) rs759159863 0.00006
NM_018136.5(ASPM):c.9471A>G (p.Glu3157=) rs764291332 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=) rs200910140 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151 0.00006
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353 0.00006
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=) rs375223901 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.4886-12C>T rs199823130 0.00006
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) rs146585940 0.00006
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) rs41277216 0.00006
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=) rs200876799 0.00006
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) rs147615382 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=) rs745566865 0.00006
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-18G>T rs587781177 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000546.6(TP53):c.75-41C>T rs569425726 0.00005
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu) rs368285556 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017 0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.7245A>G (p.Thr2415=) rs539553128 0.00005
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=) rs751053781 0.00005
NM_001184.4(ATR):c.1308G>A (p.Ser436=) rs546642861 0.00005
NM_001184.4(ATR):c.1488C>T (p.Val496=) rs774470632 0.00005
NM_001184.4(ATR):c.1878T>C (p.Asp626=) rs370033429 0.00005
NM_001184.4(ATR):c.2850G>A (p.Pro950=) rs769928724 0.00005
NM_001184.4(ATR):c.6327C>T (p.Arg2109=) rs147210068 0.00005
NM_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=) rs768466014 0.00005
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) rs752053912 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=) rs45503195 0.00005
NM_001365999.1(SZT2):c.1797G>A (p.Pro599=) rs748420169 0.00005
NM_001365999.1(SZT2):c.6541C>T (p.Leu2181=) rs145034016 0.00005
NM_001377299.1(NDUFS2):c.1355-7C>T rs749095282 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002529.4(NTRK1):c.1557C>T (p.Gly519=) rs564775946 0.00005
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=) rs186494101 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg) rs727504224 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp) rs150665982 0.00005
NM_015627.3(LDLRAP1):c.870C>T (p.Val290=) rs200433841 0.00005
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_018122.5(DARS2):c.1497G>A (p.Ser499=) rs201884983 0.00005
NM_018136.5(ASPM):c.7635A>G (p.Lys2545=) rs753881432 0.00005
NM_020822.3(KCNT1):c.1402-5G>A rs573411729 0.00005
NM_020822.3(KCNT1):c.2008+20C>T rs371649094 0.00005
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 0.00005
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) rs753331276 0.00005
NM_206933.4(USH2A):c.11390-10C>T rs750110818 0.00005
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716 0.00005
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=) rs151165599 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1130G>A (p.Arg377His) rs144998416 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) rs375716505 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) rs748891586 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 0.00004
NM_000455.5(STK11):c.1109-5C>T rs587782020 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000455.5(STK11):c.42G>A (p.Glu14=) rs758769888 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.598-14C>T rs769378511 0.00004
NM_000455.5(STK11):c.612C>T (p.Phe204=) rs774100153 0.00004
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_000546.6(TP53):c.102C>G (p.Pro34=) rs11575998 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.141G>A (p.Pro47=) rs201741778 0.00004
NM_000546.6(TP53):c.246G>A (p.Pro82=) rs372397095 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.376-18dup rs756417643 0.00004
NM_000546.6(TP53):c.450A>G (p.Thr150=) rs754020850 0.00004
NM_000546.6(TP53):c.504C>T (p.His168=) rs746293837 0.00004
NM_000546.6(TP53):c.672+15T>C rs140756213 0.00004
NM_000546.6(TP53):c.993+227A>C rs764562217 0.00004
NM_000546.6(TP53):c.993+312C>T rs756952434 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048 0.00004
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00004
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168 0.00004
NM_000548.5(TSC2):c.225+5G>T rs778371172 0.00004
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) rs145258407 0.00004
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys) rs45517268 0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275 0.00004
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00004
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00004
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser) rs749501410 0.00004
NM_000548.5(TSC2):c.4990-3C>T rs777928103 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) rs766093661 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191 0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042492.3(NF1):c.1806A>G (p.Glu602=) rs370454753 0.00004
NM_001042492.3(NF1):c.2592C>T (p.Ser864=) rs761499485 0.00004
NM_001042492.3(NF1):c.3114-4A>G rs201550230 0.00004
NM_001042492.3(NF1):c.3342G>A (p.Leu1114=) rs1172575807 0.00004
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=) rs376659579 0.00004
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=) rs373685150 0.00004
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=) rs371578074 0.00004
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=) rs138265293 0.00004
NM_001042492.3(NF1):c.6750T>C (p.Val2250=) rs762075320 0.00004
NM_001042492.3(NF1):c.7739-12A>G rs778057828 0.00004
NM_001042492.3(NF1):c.7881A>G (p.Val2627=) rs756880349 0.00004
NM_001111.5(ADAR):c.2319C>T (p.Cys773=) rs750666914 0.00004
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) rs376004978 0.00004
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) rs372488916 0.00004
NM_001184.4(ATR):c.24G>A (p.Leu8=) rs373166003 0.00004
NM_001184.4(ATR):c.2922G>A (p.Thr974=) rs763559215 0.00004
NM_001184.4(ATR):c.3891C>T (p.Val1297=) rs535173549 0.00004
NM_001184.4(ATR):c.4281T>A (p.Ile1427=) rs374108762 0.00004
NM_001184.4(ATR):c.5166T>C (p.Tyr1722=) rs368448214 0.00004
NM_001184.4(ATR):c.5217A>G (p.Val1739=) rs759675282 0.00004
NM_001184.4(ATR):c.5271T>C (p.Asn1757=) rs769552527 0.00004
NM_001184.4(ATR):c.5316G>A (p.Thr1772=) rs146463402 0.00004
NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=) rs369610414 0.00004
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=) rs373289645 0.00004
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=) rs779754710 0.00004
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=) rs753691766 0.00004
NM_001276345.2(TNNT2):c.720-13C>G rs377714587 0.00004
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=) rs45465693 0.00004
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365999.1(SZT2):c.1395C>T (p.Gly465=) rs373535733 0.00004
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) rs137956992 0.00004
NM_001365999.1(SZT2):c.4356C>T (p.Ser1452=) rs200813502 0.00004
NM_001365999.1(SZT2):c.4599C>T (p.Asp1533=) rs200228680 0.00004
NM_001365999.1(SZT2):c.4716C>T (p.Ser1572=) rs147043685 0.00004
NM_001365999.1(SZT2):c.6936G>A (p.Ala2312=) rs192791002 0.00004
NM_001365999.1(SZT2):c.835C>T (p.Leu279=) rs373897662 0.00004
NM_001365999.1(SZT2):c.8947C>T (p.Leu2983=) rs752431707 0.00004
NM_001365999.1(SZT2):c.9360T>C (p.Ser3120=) rs367855839 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.481-4G>A rs754864893 0.00004
NM_002529.4(NTRK1):c.2085G>A (p.Pro695=) rs377730927 0.00004
NM_002529.4(NTRK1):c.2334C>T (p.His778=) rs370504033 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=) rs755533900 0.00004
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.372G>A (p.Leu124=) rs780881662 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_004525.3(LRP2):c.770-12T>C rs138572086 0.00004
NM_005633.4(SOS1):c.1095A>G (p.Glu365=) rs767540464 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005633.4(SOS1):c.1842G>A (p.Thr614=) rs143750479 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005633.4(SOS1):c.3942C>T (p.His1314=) rs778838515 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_006912.6(RIT1):c.231T>C (p.Ala77=) rs144170253 0.00004
NM_006912.6(RIT1):c.291C>A (p.Ile97=) rs377326705 0.00004
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.9090A>G (p.Leu3030=) rs754628665 0.00004
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=) rs140133465 0.00004
NM_015627.3(LDLRAP1):c.168G>A (p.Thr56=) rs756472955 0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341 0.00004
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 0.00004
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800 0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985 0.00004
NM_020822.3(KCNT1):c.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279 0.00004
NM_022356.4(P3H1):c.2190G>A (p.Ser730=) rs537555305 0.00004
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_030787.4(CFHR5):c.846G>A (p.Pro282=) rs754917131 0.00004
NM_031935.3(HMCN1):c.498+15A>C rs565661847 0.00004
NM_031935.3(HMCN1):c.5749+6G>A rs575776317 0.00004
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004