ClinVar Miner

List of variants studied for male infertility

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3770
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.7805+13A>G rs770284 0.99996
NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile) rs3814747 0.95986
NM_001039706.3(CFAP69):c.682+50A>C rs10280053 0.89657
NM_001039706.3(CFAP69):c.1857+47T>A rs6465256 0.89647
NM_001015878.2(AURKC):c.-145G>C rs11084490 0.86511
NM_001039706.3(CFAP69):c.1468G>A (p.Val490Met) rs1029365 0.81446
NM_001015878.2(AURKC):c.-128C>T rs58264281 0.75512
NM_152467.5(KLHL10):c.261C>T (p.Pro87=) rs1529933 0.75377
NM_024867.4(SPEF2):c.2800G>C (p.Ala934Pro) rs13170390 0.75205
NM_024867.4(SPEF2):c.2914+19T>G rs10073537 0.75205
NM_024867.4(SPEF2):c.2711C>T (p.Ala904Val) rs13170082 0.75201
NM_024867.4(SPEF2):c.579T>C (p.Ile193=) rs7706444 0.69286
NM_024867.4(SPEF2):c.1167+46T>C rs9292598 0.60392
NM_024867.4(SPEF2):c.211A>C (p.Asn71His) rs6897513 0.59724
NM_024867.4(SPEF2):c.861C>T (p.Asp287=) rs2270558 0.59301
NM_004959.5(NR5A1):c.*82C>T rs915034 0.56771
NM_024867.4(SPEF2):c.2142T>C (p.Asn714=) rs6451206 0.54517
NM_001388453.1(QRICH2):c.3713-15T>C rs17509527 0.53425
NM_024867.4(SPEF2):c.3331-11T>C rs11957963 0.53280
NM_001039706.3(CFAP69):c.2654C>T (p.Thr885Met) rs1134956 0.48401
NM_031293.3(PMFBP1):c.2739A>C (p.Lys913Asn) rs16973716 0.45950
NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=) rs2845570 0.44072
NM_001388453.1(QRICH2):c.4748+47G>A rs164010 0.41462
NM_031955.6(SPATA16):c.397A>G (p.Met133Val) rs1515442 0.39106
NM_017917.4(PPP2R3C):c.-9A>G rs1056879 0.38007
NM_053054.4(CATSPER1):c.-92T>C rs947847 0.34569
NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser) rs1203998 0.34448
NM_001282717.2(STAG3):c.1245-26T>C rs3823642 0.30621
NM_001282717.2(STAG3):c.2445T>A (p.Ile815=) rs1043915 0.30556
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_015512.5(DNAH1):c.6957C>T (p.His2319=) rs1546737 0.23926
NM_144605.5(SEPTIN12):c.474G>A (p.Val158=) rs759991 0.23656
NM_053054.4(CATSPER1):c.54C>T (p.Asn18=) rs1893316 0.20019
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_020937.4(FANCM):c.4318-27G>A rs8020533 0.19361
NM_015512.5(DNAH1):c.3964A>C (p.Arg1322=) rs11714402 0.18733
NM_031955.6(SPATA16):c.675C>T (p.Ser225=) rs508508 0.17696
NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=) rs3829937 0.17199
NM_001282717.2(STAG3):c.106A>C (p.Thr36Pro) rs2272343 0.17089
NM_001282717.2(STAG3):c.48G>T (p.Leu16Phe) rs11531577 0.16775
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp) rs12163565 0.15635
NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys) rs1515441 0.11912
NM_001388453.1(QRICH2):c.4878G>A (p.Thr1626=) rs347675 0.09757
NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu) rs16846616 0.09632
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_015512.5(DNAH1):c.6139-15G>A rs746239 0.08259
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_015512.5(DNAH1):c.7151A>G (p.Asn2384Ser) rs56002041 0.07792
NM_015512.5(DNAH1):c.10881C>A (p.Val3627=) rs11708581 0.07706
NM_015512.5(DNAH1):c.9624C>T (p.Ile3208=) rs61734628 0.06095
NM_015512.5(DNAH1):c.11959-15C>T rs123603 0.03923
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_015512.5(DNAH1):c.3853C>T (p.Arg1285Trp) rs61734640 0.03447
NM_015512.5(DNAH1):c.2430C>T (p.Thr810=) rs35982798 0.03445
NM_015512.5(DNAH1):c.10317C>T (p.Ile3439=) rs419050 0.03434
NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=) rs75366838 0.02754
NM_015512.5(DNAH1):c.5787G>A (p.Ser1929=) rs61738524 0.02555
NM_015512.5(DNAH1):c.4504G>A (p.Val1502Met) rs17052095 0.02539
NM_031955.6(SPATA16):c.720G>A (p.Arg240=) rs55724801 0.02430
NM_001177949.2(SYCP3):c.-122T>A rs17031944 0.02365
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) rs138805488 0.02176
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) rs1110062 0.02157
NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr) rs146572379 0.02122
NM_015512.5(DNAH1):c.5288C>T (p.Ser1763Leu) rs61739896 0.01985
NM_001177949.2(SYCP3):c.*205G>A rs17723833 0.01983
NM_015512.5(DNAH1):c.8514+13G>A rs111312769 0.01970
NM_015512.5(DNAH1):c.9783C>T (p.Arg3261=) rs61733865 0.01969
NM_015512.5(DNAH1):c.7848C>T (p.Tyr2616=) rs113529103 0.01967
NM_015512.5(DNAH1):c.9121C>T (p.Arg3041Cys) rs61731638 0.01963
NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr) rs62622782 0.01931
NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val) rs115095786 0.01910
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_015512.5(DNAH1):c.10305G>A (p.Thr3435=) rs75513160 0.01677
NM_015512.5(DNAH1):c.5697C>T (p.Tyr1899=) rs115818632 0.01673
NM_015512.5(DNAH1):c.2308C>G (p.Gln770Glu) rs74363541 0.01655
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_015512.5(DNAH1):c.1789C>T (p.Arg597Cys) rs61734654 0.01589
NM_053054.4(CATSPER1):c.-8G>A rs948477 0.01540
NM_015512.5(DNAH1):c.931G>A (p.Asp311Asn) rs55931436 0.01502
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) rs79833327 0.01487
NM_053054.4(CATSPER1):c.1651C>T (p.Leu551=) rs1783562 0.01483
NM_015512.5(DNAH1):c.7197G>C (p.Val2399=) rs61738522 0.01427
NM_015512.5(DNAH1):c.5988A>C (p.Ser1996=) rs61753436 0.01351
NM_053054.4(CATSPER1):c.1057G>A (p.Val353Ile) rs1191715 0.01351
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) rs142414614 0.01323
NM_001177949.2(SYCP3):c.*183A>G rs115013475 0.01299
NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser) rs16846624 0.01264
NM_001177949.2(SYCP3):c.435A>G (p.Glu145=) rs78591432 0.01236
NM_015512.5(DNAH1):c.8134A>G (p.Met2712Val) rs28434358 0.01222
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) rs28399976 0.01049
NM_001015878.2(AURKC):c.396G>A (p.Leu132=) rs55710619 0.00991
NM_015512.5(DNAH1):c.6191A>G (p.Asn2064Ser) rs145673040 0.00959
NM_015512.5(DNAH1):c.4588A>G (p.Asn1530Asp) rs74498533 0.00903
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_015512.5(DNAH1):c.8215A>G (p.Ile2739Val) rs61734631 0.00845
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_015512.5(DNAH1):c.3201C>T (p.Cys1067=) rs114066123 0.00742
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_031955.6(SPATA16):c.1143A>G (p.Gln381=) rs73041295 0.00685
NM_031955.6(SPATA16):c.-121G>A rs189972919 0.00657
NM_053054.4(CATSPER1):c.1544-6C>T rs147398525 0.00598
NM_001015878.2(AURKC):c.621G>A (p.Pro207=) rs148940837 0.00593
NM_015512.5(DNAH1):c.7608+20G>A rs143306113 0.00586
NM_053054.4(CATSPER1):c.730G>A (p.Gly244Arg) rs79062509 0.00566
NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val) rs112505934 0.00533
NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys) rs113202862 0.00521
NM_053054.4(CATSPER1):c.144C>T (p.His48=) rs112725798 0.00487
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr) rs142328376 0.00463
NM_015512.5(DNAH1):c.2919C>T (p.His973=) rs149114984 0.00455
NM_031955.6(SPATA16):c.53A>G (p.His18Arg) rs115897458 0.00450
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp) rs61757219 0.00440
NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly) rs61734644 0.00434
NM_001350162.2(TEX15):c.3563C>T (p.Ala1188Val) rs117788795 0.00427
NM_015512.5(DNAH1):c.3111G>A (p.Ser1037=) rs77639782 0.00426
NM_015512.5(DNAH1):c.9935C>T (p.Thr3312Met) rs114919804 0.00415
NM_015512.5(DNAH1):c.933C>T (p.Asp311=) rs199505182 0.00414
NM_004959.5(NR5A1):c.871-13C>T rs189724865 0.00397
NM_015512.5(DNAH1):c.5094+3A>T rs149183773 0.00383
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_015512.5(DNAH1):c.5765+12C>G rs201223427 0.00360
NM_031272.5(TEX14):c.709C>G (p.Gln237Glu) rs35551271 0.00360
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_053054.4(CATSPER1):c.689G>A (p.Arg230His) rs74794071 0.00354
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn) rs187636110 0.00334
NM_015512.5(DNAH1):c.5853G>A (p.Val1951=) rs80128076 0.00327
NM_015512.5(DNAH1):c.569T>C (p.Ile190Thr) rs61729450 0.00319
NM_015512.5(DNAH1):c.11136G>A (p.Arg3712=) rs147264705 0.00317
NM_015512.5(DNAH1):c.1244A>G (p.Lys415Arg) rs61729402 0.00315
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_015512.5(DNAH1):c.6138+15G>A rs140592948 0.00313
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_015512.5(DNAH1):c.8266G>A (p.Val2756Met) rs61749019 0.00304
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.1981A>G (p.Met661Val) rs61734653 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_001015878.2(AURKC):c.436-4A>G rs148623255 0.00299
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) rs180918289 0.00295
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_001015878.2(AURKC):c.760-12T>C rs148264225 0.00279
NM_015512.5(DNAH1):c.7375G>A (p.Glu2459Lys) rs201064587 0.00273
NM_015512.5(DNAH1):c.1172A>G (p.Tyr391Cys) rs181418923 0.00270
NM_015512.5(DNAH1):c.5674A>C (p.Met1892Leu) rs147123898 0.00262
NM_015512.5(DNAH1):c.6819G>A (p.Leu2273=) rs79760452 0.00260
NM_015512.5(DNAH1):c.9807C>T (p.Asn3269=) rs199553284 0.00259
NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr) rs200542540 0.00257
NM_015512.5(DNAH1):c.11259+17A>G rs200820298 0.00255
NM_015512.5(DNAH1):c.2871+18G>T rs76451298 0.00255
NM_001350162.2(TEX15):c.4945G>A (p.Val1649Ile) rs76147771 0.00252
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_173651.4(FSIP2):c.9739A>G (p.Arg3247Gly) rs142306380 0.00246
NM_015512.5(DNAH1):c.4266+20T>C rs137910956 0.00245
NM_031276.3(TEX11):c.405C>T (p.Ala135=) rs147088100 0.00245
NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His) rs201299120 0.00241
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_053054.4(CATSPER1):c.231A>T (p.Gln77His) rs146165781 0.00234
NM_031272.5(TEX14):c.3818-1G>A rs55759912 0.00233
NM_015512.5(DNAH1):c.3350A>G (p.Gln1117Arg) rs201527318 0.00232
NM_001015878.2(AURKC):c.12C>G (p.Pro4=) rs73633650 0.00225
NM_015512.5(DNAH1):c.334-12G>A rs144102868 0.00222
NM_015512.5(DNAH1):c.1287G>A (p.Ser429=) rs202217531 0.00221
NM_053054.4(CATSPER1):c.996G>C (p.Arg332=) rs114764419 0.00219
NM_001350162.2(TEX15):c.8838T>G (p.Ile2946Met) rs145215857 0.00218
NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=) rs185313035 0.00218
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_015512.5(DNAH1):c.8649G>C (p.Glu2883Asp) rs79689614 0.00215
NM_015512.5(DNAH1):c.8765C>T (p.Ala2922Val) rs182141515 0.00214
NM_015512.5(DNAH1):c.10416C>T (p.Tyr3472=) rs147839489 0.00212
NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn) rs148174540 0.00207
NM_053054.4(CATSPER1):c.148G>A (p.Val50Met) rs139889481 0.00195
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr) rs141903829 0.00192
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val) rs200859252 0.00190
NM_001177949.2(SYCP3):c.-53C>G rs137993065 0.00185
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr) rs140984555 0.00183
NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe) rs116466451 0.00183
NM_001015878.2(AURKC):c.235A>G (p.Ile79Val) rs61736320 0.00180
NM_015512.5(DNAH1):c.10216G>A (p.Val3406Ile) rs201752275 0.00178
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_015512.5(DNAH1):c.1442G>A (p.Arg481Gln) rs199870577 0.00176
NM_001101677.2(SOHLH1):c.346-1G>A rs140132974 0.00173
NM_004917.5(KLK4):c.680C>T (p.Pro227Leu) rs144350395 0.00170
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=) rs148084212 0.00168
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_053054.4(CATSPER1):c.145G>A (p.Gly49Ser) rs149821768 0.00167
NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) rs374363746 0.00162
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu) rs74484098 0.00153
NM_015512.5(DNAH1):c.5334G>A (p.Glu1778=) rs61729400 0.00151
NM_015512.5(DNAH1):c.1912G>A (p.Asp638Asn) rs201988957 0.00148
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser) rs185000070 0.00143
NM_152327.5(AK7):c.2018T>C (p.Leu673Pro) rs116298211 0.00143
NM_015512.5(DNAH1):c.6460A>G (p.Arg2154Gly) rs146002323 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_015512.5(DNAH1):c.1384C>T (p.Pro462Ser) rs201341419 0.00137
NM_015512.5(DNAH1):c.1688G>A (p.Ser563Asn) rs137937801 0.00137
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) rs199752008 0.00136
NM_015512.5(DNAH1):c.10915G>A (p.Ala3639Thr) rs138940904 0.00131
NM_001015878.2(AURKC):c.435+11G>A rs193015358 0.00130
NM_015512.5(DNAH1):c.5155C>T (p.Leu1719Phe) rs201948157 0.00130
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His) rs199603472 0.00121
NM_015512.5(DNAH1):c.4941G>A (p.Ala1647=) rs369578432 0.00120
NM_015512.5(DNAH1):c.11043A>G (p.Thr3681=) rs200622578 0.00118
NM_001015878.2(AURKC):c.*6G>C rs138125119 0.00114
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_194302.4(CFAP65):c.1489G>A (p.Ala497Thr) rs148965868 0.00110
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_015512.5(DNAH1):c.1554C>T (p.Ala518=) rs201113513 0.00108
NM_015512.5(DNAH1):c.2724T>C (p.Asn908=) rs201003363 0.00108
NM_015512.5(DNAH1):c.6435A>G (p.Pro2145=) rs372202417 0.00107
NM_144666.3(DNHD1):c.14234T>C (p.Val4745Ala) rs185616789 0.00105
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00104
NM_015512.5(DNAH1):c.11003A>G (p.Asn3668Ser) rs199630660 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_015512.5(DNAH1):c.5182A>T (p.Ser1728Cys) rs138320093 0.00103
NM_015512.5(DNAH1):c.8630A>T (p.Asp2877Val) rs181910198 0.00103
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val) rs148698911 0.00101
NM_015512.5(DNAH1):c.6258+17G>A rs199857102 0.00101
NM_015512.5(DNAH1):c.9440T>A (p.Ile3147Asn) rs61734629 0.00101
NM_015512.5(DNAH1):c.11572A>C (p.Lys3858Gln) rs186366418 0.00099
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_031955.6(SPATA16):c.430A>C (p.Met144Leu) rs140920981 0.00099
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) rs200163795 0.00098
NM_015512.5(DNAH1):c.10616A>G (p.Lys3539Arg) rs115647631 0.00098
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00096
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) rs200749741 0.00095
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His) rs141532428 0.00092
NM_015512.5(DNAH1):c.1160C>A (p.Ala387Glu) rs200834858 0.00092
NM_015512.5(DNAH1):c.11481C>T (p.Asn3827=) rs144605025 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_031955.5(SPATA16):c.-159C>A rs528313469 0.00088
NM_015512.5(DNAH1):c.7572T>C (p.Asp2524=) rs368852045 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) rs200784189 0.00085
NM_015512.5(DNAH1):c.1093G>T (p.Ala365Ser) rs374001771 0.00083
NM_015512.5(DNAH1):c.11970C>T (p.Asp3990=) rs376132414 0.00083
NM_015512.5(DNAH1):c.1956-14G>A rs181041944 0.00082
NM_053054.4(CATSPER1):c.883C>T (p.Arg295Trp) rs150803613 0.00082
NM_015512.5(DNAH1):c.1590C>T (p.His530=) rs142935638 0.00078
NM_015512.5(DNAH1):c.1084C>T (p.Leu362Phe) rs200067536 0.00077
NM_015512.5(DNAH1):c.7609-17C>T rs202184724 0.00076
NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser) rs200839854 0.00076
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val) rs200158571 0.00076
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) rs61744648 0.00076
NM_015512.5(DNAH1):c.4981-17G>A rs370018310 0.00075
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) rs142724470 0.00075
NM_001350162.2(TEX15):c.3838A>G (p.Thr1280Ala) rs144234582 0.00074
NM_015512.5(DNAH1):c.7123A>C (p.Lys2375Gln) rs149319231 0.00072
NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp) rs148686517 0.00070
NM_015512.5(DNAH1):c.12442-18G>A rs376695157 0.00068
NM_015512.5(DNAH1):c.7020C>T (p.Val2340=) rs200691263 0.00067
NM_015512.5(DNAH1):c.12097C>A (p.Arg4033=) rs371210477 0.00066
NM_015512.5(DNAH1):c.5418C>T (p.Ser1806=) rs199597694 0.00066
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_015512.5(DNAH1):c.1087T>C (p.Phe363Leu) rs200013928 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp) rs113332942 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_015512.5(DNAH1):c.10002G>A (p.Thr3334=) rs373554527 0.00062
NM_015512.5(DNAH1):c.1986C>T (p.Asp662=) rs376991251 0.00061
NM_015512.5(DNAH1):c.4571+18G>A rs374606506 0.00061
NM_015512.5(DNAH1):c.1610G>A (p.Ser537Asn) rs201302159 0.00060
NM_015512.5(DNAH1):c.7109A>C (p.Asp2370Ala) rs202011102 0.00060
NM_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys) rs143707632 0.00059
NM_015512.5(DNAH1):c.11683A>G (p.Met3895Val) rs376301831 0.00059
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_001366900.1(TTC21A):c.3095+5G>T rs148431487 0.00058
NM_015512.5(DNAH1):c.5964G>A (p.Glu1988=) rs201198770 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_015512.5(DNAH1):c.5518+9C>T rs373255914 0.00057
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys) rs199740667 0.00056
NM_015512.5(DNAH1):c.11886G>A (p.Thr3962=) rs374930994 0.00055
NM_015512.5(DNAH1):c.12481C>G (p.Gln4161Glu) rs200858839 0.00053
NM_015512.5(DNAH1):c.7923C>T (p.Phe2641=) rs372331607 0.00053
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649 0.00053
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_031276.3(TEX11):c.466A>G (p.Met156Val) rs143246552 0.00053
NM_015512.5(DNAH1):c.407-13C>A rs199779498 0.00052
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) rs140499872 0.00052
NM_025103.4(IFT74):c.902C>T (p.Pro301Leu) rs78753648 0.00052
NM_015512.5(DNAH1):c.6610A>G (p.Met2204Val) rs199912441 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr) rs560568324 0.00050
NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr) rs181919231 0.00050
NM_015512.5(DNAH1):c.5332-15C>T rs201536701 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_001206927.2(DNAH8):c.4303-15T>C rs201364154 0.00048
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys) rs151313083 0.00048
NM_015512.5(DNAH1):c.1847A>C (p.Gln616Pro) rs200814267 0.00048
NM_015512.5(DNAH1):c.871+3G>A rs200262632 0.00048
NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr) rs199602894 0.00048
NM_053054.4(CATSPER1):c.2064+6G>A rs143930161 0.00048
NM_015512.5(DNAH1):c.11718G>A (p.Val3906=) rs2302409 0.00047
NM_015512.5(DNAH1):c.9811A>G (p.Ile3271Val) rs201807250 0.00047
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) rs139535827 0.00047
NM_020937.4(FANCM):c.159C>T (p.Asp53=) rs147559750 0.00046
NM_031955.6(SPATA16):c.328A>C (p.Met110Leu) rs147011314 0.00046
NM_053054.4(CATSPER1):c.2244C>T (p.Ser748=) rs142474326 0.00046
NM_015512.5(DNAH1):c.11260-4C>A rs181779669 0.00045
NM_015512.5(DNAH1):c.10594C>T (p.Arg3532Cys) rs759716748 0.00044
NM_015512.5(DNAH1):c.2209G>A (p.Val737Met) rs368736791 0.00044
NM_015512.5(DNAH1):c.9671A>G (p.Asn3224Ser) rs201309675 0.00044
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_001177949.2(SYCP3):c.666A>G (p.Gln222=) rs190337934 0.00043
NM_001177949.2(SYCP3):c.-74T>C rs541789192 0.00042
NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr) rs370756367 0.00042
NM_015512.5(DNAH1):c.12612C>G (p.Pro4204=) rs373606892 0.00041
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met) rs201455697 0.00041
NM_015512.5(DNAH1):c.7646A>G (p.Asn2549Ser) rs199694029 0.00041
NM_015512.5(DNAH1):c.9560A>G (p.His3187Arg) rs201903736 0.00041
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) rs142747831 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) rs368517882 0.00040
NM_015512.5(DNAH1):c.969C>T (p.Asp323=) rs3864111 0.00040
NM_053054.4(CATSPER1):c.*96G>A rs1783566 0.00040
NM_015512.5(DNAH1):c.2542C>T (p.Arg848Cys) rs138422594 0.00039
NM_015512.5(DNAH1):c.3226+15C>T rs189705509 0.00039
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His) rs116930509 0.00038
NM_053054.4(CATSPER1):c.292C>T (p.Leu98=) rs149064120 0.00038
NM_015512.5(DNAH1):c.3480+16C>T rs566501109 0.00037
NM_015512.5(DNAH1):c.3756C>G (p.Ser1252Arg) rs199502930 0.00037
NM_015512.5(DNAH1):c.5100C>G (p.Leu1700=) rs368364427 0.00037
NM_015512.5(DNAH1):c.5177A>T (p.Glu1726Val) rs192723261 0.00037
NM_015512.5(DNAH1):c.10952G>A (p.Arg3651His) rs201278364 0.00036
NM_015512.5(DNAH1):c.11260-14G>A rs761117917 0.00036
NM_015512.5(DNAH1):c.1759A>C (p.Asn587His) rs188699424 0.00036
NM_015512.5(DNAH1):c.2482G>A (p.Val828Met) rs141416042 0.00036
NM_015512.5(DNAH1):c.6558T>G (p.Ala2186=) rs113617561 0.00036
NM_015512.5(DNAH1):c.9021G>T (p.Val3007=) rs201550077 0.00036
NM_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln) rs77451372 0.00035
NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val) rs185283741 0.00034
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn) rs140883175 0.00034
NM_015512.5(DNAH1):c.406+18C>G rs561152104 0.00034
NM_015512.5(DNAH1):c.5406T>C (p.Ser1802=) rs200456498 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_015512.5(DNAH1):c.2543G>A (p.Arg848His) rs376029297 0.00033
NM_015512.5(DNAH1):c.1722C>T (p.Arg574=) rs149480284 0.00032
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) rs137853118 0.00032
NM_015512.5(DNAH1):c.10923G>A (p.Gln3641=) rs544039760 0.00031
NM_015512.5(DNAH1):c.12315A>G (p.Gln4105=) rs201156071 0.00031
NM_015512.5(DNAH1):c.2576A>G (p.Asn859Ser) rs200428788 0.00031
NM_015512.5(DNAH1):c.888G>C (p.Gln296His) rs200450328 0.00031
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) rs147211854 0.00031
NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) rs140210148 0.00031
NM_015512.5(DNAH1):c.11249A>G (p.Asn3750Ser) rs114272520 0.00030
NM_015512.5(DNAH1):c.5396A>G (p.Lys1799Arg) rs200793269 0.00030
NM_015512.5(DNAH1):c.7865G>A (p.Arg2622Gln) rs200587980 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_144666.3(DNHD1):c.4072C>T (p.Arg1358Cys) rs12574381 0.00030
NM_015512.5(DNAH1):c.2489A>C (p.Asp830Ala) rs376327672 0.00029
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg) rs142595873 0.00029
NM_015512.5(DNAH1):c.4266+19G>A rs547078712 0.00029
NM_015512.5(DNAH1):c.5850G>A (p.Pro1950=) rs374690567 0.00029
NM_015512.5(DNAH1):c.6139-10C>T rs548409042 0.00029
NM_015512.5(DNAH1):c.8150+15C>T rs370852061 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_053054.4(CATSPER1):c.995G>A (p.Arg332Gln) rs142296641 0.00029
NM_015512.5(DNAH1):c.8200G>T (p.Val2734Phe) rs376888480 0.00028
NM_015512.5(DNAH1):c.9172-16G>A rs201089899 0.00028
NM_015512.5(DNAH1):c.10173G>A (p.Glu3391=) rs202178561 0.00027
NM_015512.5(DNAH1):c.6412G>A (p.Glu2138Lys) rs375829118 0.00027
NM_015512.5(DNAH1):c.691A>G (p.Ile231Val) rs201173405 0.00027
NM_015512.5(DNAH1):c.8662G>T (p.Val2888Leu) rs188851585 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_015512.5(DNAH1):c.11435T>C (p.Met3812Thr) rs375533259 0.00026
NM_015512.5(DNAH1):c.12626A>G (p.Gln4209Arg) rs202094249 0.00026
NM_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser) rs199560640 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) rs146065064 0.00026
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001350162.2(TEX15):c.1261G>A (p.Gly421Ser) rs951031727 0.00025
NM_004959.5(NR5A1):c.493G>C (p.Gly165Arg) rs535621711 0.00025
NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg) rs199884450 0.00025
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_053054.4(CATSPER1):c.*23G>A rs373009756 0.00025
NM_015512.5(DNAH1):c.12252G>A (p.Lys4084=) rs371353386 0.00024
NM_015512.5(DNAH1):c.6554C>T (p.Ser2185Leu) rs369619987 0.00024
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 0.00024
NM_053054.4(CATSPER1):c.1805G>A (p.Arg602Gln) rs145583697 0.00024
NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=) rs370158610 0.00024
NM_015512.5(DNAH1):c.11348T>C (p.Ile3783Thr) rs149024908 0.00023
NM_015512.5(DNAH1):c.12524G>A (p.Arg4175His) rs375846884 0.00023
NM_015512.5(DNAH1):c.5679C>T (p.Tyr1893=) rs188155252 0.00023
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_173812.5(DPY19L2):c.869G>A (p.Arg290His) rs147579680 0.00023
NM_001015878.2(AURKC):c.-139C>T rs138814299 0.00022
NM_015512.5(DNAH1):c.10582C>T (p.Leu3528=) rs202182939 0.00022
NM_015512.5(DNAH1):c.11360G>A (p.Arg3787His) rs370624357 0.00022
NM_015512.5(DNAH1):c.2816G>A (p.Arg939His) rs200463119 0.00022
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_031955.6(SPATA16):c.117C>T (p.Asn39=) rs372937515 0.00022
NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=) rs575875557 0.00022
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly) rs202052258 0.00022
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His) rs142863013 0.00021
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_015512.5(DNAH1):c.5298G>A (p.Gly1766=) rs149285738 0.00021
NM_015512.5(DNAH1):c.7126C>T (p.Arg2376Cys) rs767363776 0.00021
NM_015512.5(DNAH1):c.7770C>T (p.Ser2590=) rs369479974 0.00021
NM_015512.5(DNAH1):c.7794C>T (p.Leu2598=) rs373044616 0.00021
NM_031955.6(SPATA16):c.996G>A (p.Ala332=) rs138951243 0.00021
NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg) rs143228358 0.00020
NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln) rs149272394 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) rs376316183 0.00020
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=) rs138090463 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=) rs139275824 0.00020
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu) rs141818413 0.00019
NM_015512.5(DNAH1):c.10353C>A (p.Ile3451=) rs560473874 0.00019
NM_015512.5(DNAH1):c.10803C>T (p.Phe3601=) rs373290672 0.00019
NM_015512.5(DNAH1):c.11153G>A (p.Arg3718His) rs371451336 0.00019
NM_015512.5(DNAH1):c.12246G>A (p.Ser4082=) rs199592033 0.00019
NM_015512.5(DNAH1):c.2912G>A (p.Arg971His) rs190420231 0.00019
NM_015512.5(DNAH1):c.4026G>C (p.Gln1342His) rs750380752 0.00019
NM_015512.5(DNAH1):c.4108G>A (p.Glu1370Lys) rs201610799 0.00019
NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter) rs199910432 0.00019
NM_015512.5(DNAH1):c.6474G>A (p.Ala2158=) rs371470583 0.00019
NM_015512.5(DNAH1):c.8491C>A (p.Arg2831Ser) rs558159006 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_031955.6(SPATA16):c.105G>A (p.Ala35=) rs141312480 0.00019
NM_031955.6(SPATA16):c.1401G>T (p.Gln467His) rs143774140 0.00019
NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter) rs149042353 0.00018
NM_015512.5(DNAH1):c.2188C>T (p.Arg730Trp) rs371359758 0.00018
NM_015512.5(DNAH1):c.2889C>T (p.Phe963=) rs761342029 0.00018
NM_015512.5(DNAH1):c.6204C>T (p.Thr2068=) rs368933400 0.00018
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_015512.5(DNAH1):c.8518C>T (p.Leu2840=) rs201329380 0.00018
NM_015512.5(DNAH1):c.918C>T (p.Gly306=) rs369216877 0.00018
NM_015512.5(DNAH1):c.9373G>C (p.Gly3125Arg) rs374687152 0.00018
NM_015512.5(DNAH1):c.12018A>G (p.Gln4006=) rs202165132 0.00017
NM_015512.5(DNAH1):c.269C>T (p.Pro90Leu) rs202174386 0.00017
NM_015512.5(DNAH1):c.5690A>G (p.Asn1897Ser) rs138560279 0.00017
NM_015512.5(DNAH1):c.8340C>T (p.Tyr2780=) rs566804596 0.00017
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter) rs369701921 0.00016
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_015512.5(DNAH1):c.10053-7C>T rs142135103 0.00016
NM_015512.5(DNAH1):c.11055C>T (p.Ala3685=) rs180952807 0.00016
NM_015512.5(DNAH1):c.1263G>T (p.Thr421=) rs111568726 0.00016
NM_015512.5(DNAH1):c.1955+9C>T rs371473789 0.00016
NM_015512.5(DNAH1):c.6454G>T (p.Asp2152Tyr) rs375219203 0.00016
NM_015512.5(DNAH1):c.7377+12G>A rs776658082 0.00016
NM_015512.5(DNAH1):c.8695G>T (p.Ala2899Ser) rs765908379 0.00016
NM_020937.4(FANCM):c.2003-3T>C rs777799598 0.00016
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) rs374402732 0.00016
NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala) rs147356105 0.00016
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797 0.00014
NM_001015878.2(AURKC):c.762A>G (p.Val254=) rs55898757 0.00014
NM_001177949.2(SYCP3):c.*198G>A rs537685305 0.00014
NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe) rs778218750 0.00014
NM_004959.5(NR5A1):c.420G>A (p.Leu140=) rs377377884 0.00014
NM_004959.5(NR5A1):c.870+17G>A rs367744822 0.00014
NM_004959.5(NR5A1):c.996G>A (p.Glu332=) rs375086246 0.00014
NM_015512.5(DNAH1):c.10534A>G (p.Asn3512Asp) rs542965042 0.00014
NM_015512.5(DNAH1):c.10537G>A (p.Val3513Ile) rs201247575 0.00014
NM_015512.5(DNAH1):c.10895G>A (p.Arg3632His) rs562263699 0.00014
NM_015512.5(DNAH1):c.10970C>G (p.Thr3657Arg) rs144668102 0.00014
NM_015512.5(DNAH1):c.1830A>G (p.Thr610=) rs377324795 0.00014
NM_015512.5(DNAH1):c.2828T>C (p.Ile943Thr) rs201816069 0.00014
NM_015512.5(DNAH1):c.3071T>G (p.Leu1024Arg) rs61731651 0.00014
NM_015512.5(DNAH1):c.3399C>T (p.Cys1133=) rs552076854 0.00014
NM_015512.5(DNAH1):c.7410C>T (p.His2470=) rs376198165 0.00014
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_020937.4(FANCM):c.291C>G (p.His97Gln) rs369609574 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_020937.4(FANCM):c.5341-19G>A rs375732305 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_025145.7(CFAP43):c.929T>C (p.Val310Ala) rs138825875 0.00014
NM_053054.4(CATSPER1):c.1077G>A (p.Ser359=) rs541470218 0.00014
NM_053054.4(CATSPER1):c.261C>T (p.His87=) rs138438242 0.00014
NM_000044.6(AR):c.814C>T (p.Leu272Phe) rs148972137 0.00013
NM_001131034.4(RNF212):c.111dup (p.Lys38Ter) rs768155534 0.00013
NM_004959.5(NR5A1):c.462C>T (p.Ala154=) rs776212991 0.00013
NM_015512.5(DNAH1):c.10052+10C>G rs368865494 0.00013
NM_015512.5(DNAH1):c.11837T>C (p.Ile3946Thr) rs374798612 0.00013
NM_015512.5(DNAH1):c.1957C>T (p.Pro653Ser) rs200101285 0.00013
NM_015512.5(DNAH1):c.5214C>T (p.Phe1738=) rs200175873 0.00013
NM_015512.5(DNAH1):c.5289G>A (p.Ser1763=) rs376275863 0.00013
NM_015512.5(DNAH1):c.581+4C>T rs376123460 0.00013
NM_015512.5(DNAH1):c.8206T>C (p.Cys2736Arg) rs749686324 0.00013
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) rs762637141 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_053054.4(CATSPER1):c.2126-13T>C rs369959435 0.00013
NM_001177949.2(SYCP3):c.80T>C (p.Phe27Ser) rs193241367 0.00012
NM_015512.5(DNAH1):c.1034-10C>T rs374296388 0.00012
NM_015512.5(DNAH1):c.640G>A (p.Asp214Asn) rs373792628 0.00012
NM_015512.5(DNAH1):c.8456G>A (p.Gly2819Glu) rs774716987 0.00012
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) rs189856413 0.00012
NM_053054.4(CATSPER1):c.813T>C (p.Asp271=) rs371489713 0.00012
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu) rs200416428 0.00011
NM_001271718.2(SPINK2):c.360-3C>T rs375854132 0.00011
NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg) rs140179344 0.00011
NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala) rs143987578 0.00011
NM_015512.5(DNAH1):c.10683G>A (p.Pro3561=) rs372328204 0.00011
NM_015512.5(DNAH1):c.10698G>A (p.Leu3566=) rs201495938 0.00011
NM_015512.5(DNAH1):c.1462A>C (p.Lys488Gln) rs200741498 0.00011
NM_015512.5(DNAH1):c.3508T>A (p.Ser1170Thr) rs201354986 0.00011
NM_015512.5(DNAH1):c.5094+7G>A rs372451486 0.00011
NM_015512.5(DNAH1):c.5131T>C (p.Tyr1711His) rs377018837 0.00011
NM_015512.5(DNAH1):c.6095C>T (p.Pro2032Leu) rs199808005 0.00011
NM_015512.5(DNAH1):c.647A>G (p.Asn216Ser) rs376828415 0.00011
NM_015512.5(DNAH1):c.7099G>A (p.Ala2367Thr) rs199920193 0.00011
NM_015512.5(DNAH1):c.7368C>T (p.Ala2456=) rs760944116 0.00011
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln) rs200017350 0.00011
NM_015512.5(DNAH1):c.8373G>A (p.Glu2791=) rs370329447 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys) rs142758999 0.00011
NM_053054.4(CATSPER1):c.1672C>T (p.Arg558Trp) rs200714710 0.00011
NM_001143.2(AMELY):c.574-1G>A rs760519968 0.00010
NM_015512.5(DNAH1):c.11802C>T (p.Tyr3934=) rs370625649 0.00010
NM_015512.5(DNAH1):c.2554C>T (p.Arg852Cys) rs546135785 0.00010
NM_015512.5(DNAH1):c.2647-12C>A rs373532178 0.00010
NM_015512.5(DNAH1):c.4396C>T (p.Leu1466Phe) rs368608665 0.00010
NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=) rs370197256 0.00010
NM_015512.5(DNAH1):c.9363+4C>T rs369421920 0.00010
NM_015512.5(DNAH1):c.9588G>A (p.Thr3196=) rs751393038 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_031955.6(SPATA16):c.576C>T (p.Tyr192=) rs146363552 0.00010
NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp) rs149561928 0.00009
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu) rs573755164 0.00009
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg) rs780541458 0.00009
NM_015512.5(DNAH1):c.1145G>A (p.Arg382His) rs377099238 0.00009
NM_015512.5(DNAH1):c.12282G>A (p.Leu4094=) rs144539468 0.00009
NM_015512.5(DNAH1):c.3436A>T (p.Ser1146Cys) rs61734641 0.00009
NM_015512.5(DNAH1):c.374G>A (p.Arg125Gln) rs373203216 0.00009
NM_015512.5(DNAH1):c.5162C>A (p.Ser1721Tyr) rs375094563 0.00009
NM_015512.5(DNAH1):c.5518+3G>A rs202242747 0.00009
NM_015512.5(DNAH1):c.5985T>G (p.Ala1995=) rs370203067 0.00009
NM_015512.5(DNAH1):c.6259-9C>T rs1431111813 0.00009
NM_015512.5(DNAH1):c.7199-13C>T rs372033446 0.00009
NM_015512.5(DNAH1):c.7311C>G (p.Thr2437=) rs377529523 0.00009
NM_015512.5(DNAH1):c.9287G>A (p.Arg3096Gln) rs750422567 0.00009
NM_015512.5(DNAH1):c.953T>G (p.Leu318Arg) rs370393988 0.00009
NM_015512.5(DNAH1):c.9622-6C>T rs946083803 0.00009
NM_015512.5(DNAH1):c.9625G>A (p.Ala3209Thr) rs377382857 0.00009
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) rs142380037 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) rs561723791 0.00009
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) rs151273573 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) rs150256536 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_031955.6(SPATA16):c.*92A>G rs892103462 0.00009
NM_031955.6(SPATA16):c.-142G>A rs566046620 0.00009
NM_031955.6(SPATA16):c.104C>T (p.Ala35Val) rs200483368 0.00009
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met) rs199779645 0.00008
NM_001372106.1(DNAH10):c.7955C>T (p.Thr2652Met) rs764317091 0.00008
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) rs201103618 0.00008
NM_015512.5(DNAH1):c.10318G>A (p.Asp3440Asn) rs376059846 0.00008
NM_015512.5(DNAH1):c.10770C>T (p.Phe3590=) rs369033532 0.00008
NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) rs372166382 0.00008
NM_015512.5(DNAH1):c.2221A>G (p.Met741Val) rs576655203 0.00008
NM_015512.5(DNAH1):c.2301-19G>A rs767149546 0.00008
NM_015512.5(DNAH1):c.2529C>T (p.Ile843=) rs200437374 0.00008
NM_015512.5(DNAH1):c.3577G>A (p.Ala1193Thr) rs376032415 0.00008
NM_015512.5(DNAH1):c.3859-12C>T rs369217075 0.00008
NM_015512.5(DNAH1):c.4874+18C>T rs367799933 0.00008
NM_015512.5(DNAH1):c.5772C>T (p.Asp1924=) rs187752630 0.00008
NM_015512.5(DNAH1):c.7689C>T (p.Asp2563=) rs373427372 0.00008
NM_015512.5(DNAH1):c.847C>T (p.Pro283Ser) rs371481904 0.00008
NM_015512.5(DNAH1):c.9519C>T (p.Tyr3173=) rs375621008 0.00008
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) rs574509639 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_031955.6(SPATA16):c.25T>C (p.Leu9=) rs150041488 0.00008
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr) rs369473998 0.00007
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) rs201095702 0.00007
NM_015512.5(DNAH1):c.10627-9C>T rs372214843 0.00007
NM_015512.5(DNAH1):c.10637G>A (p.Arg3546Gln) rs201932960 0.00007
NM_015512.5(DNAH1):c.11074G>A (p.Glu3692Lys) rs758895180 0.00007
NM_015512.5(DNAH1):c.11643C>T (p.Tyr3881=) rs574358913 0.00007
NM_015512.5(DNAH1):c.12157G>A (p.Val4053Ile) rs200708752 0.00007
NM_015512.5(DNAH1):c.1386C>T (p.Pro462=) rs750795432 0.00007
NM_015512.5(DNAH1):c.1720C>T (p.Arg574Cys) rs759820286 0.00007
NM_015512.5(DNAH1):c.2106+5G>A rs747761276 0.00007
NM_015512.5(DNAH1):c.4806C>T (p.Thr1602=) rs536663755 0.00007
NM_015512.5(DNAH1):c.6343G>A (p.Val2115Met) rs559404563 0.00007
NM_015512.5(DNAH1):c.7064C>T (p.Pro2355Leu) rs561335239 0.00007
NM_015512.5(DNAH1):c.8783G>A (p.Arg2928His) rs117873755 0.00007
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) rs768676143 0.00007
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) rs748083548 0.00007
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) rs148605513 0.00007
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His) rs776506025 0.00007
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) rs202101508 0.00007
NM_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_001015878.2(AURKC):c.675T>C (p.Ile225=) rs145271279 0.00006
NM_001136505.2(TERB1):c.1813C>T (p.Arg605Ter) rs963945421 0.00006
NM_001164496.2(CFAP44):c.670C>T (p.Arg224Ter) rs768429457 0.00006
NM_001177949.2(SYCP3):c.657T>C (p.Thr219=) rs769825641 0.00006
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His) rs776311330 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_005390.5(PDHA2):c.679A>G (p.Met227Val) rs200969445 0.00006
NM_015512.5(DNAH1):c.10689G>A (p.Pro3563=) rs551397999 0.00006
NM_015512.5(DNAH1):c.10765G>A (p.Asp3589Asn) rs200850423 0.00006
NM_015512.5(DNAH1):c.10804G>A (p.Asp3602Asn) rs377385985 0.00006
NM_015512.5(DNAH1):c.10914C>T (p.Asn3638=) rs374622615 0.00006
NM_015512.5(DNAH1):c.10976A>G (p.Asn3659Ser) rs376694884 0.00006
NM_015512.5(DNAH1):c.1113C>T (p.Phe371=) rs367809843 0.00006
NM_015512.5(DNAH1):c.11152C>T (p.Arg3718Cys) rs759839153 0.00006
NM_015512.5(DNAH1):c.11362G>A (p.Gly3788Ser) rs376924974 0.00006
NM_015512.5(DNAH1):c.11743G>A (p.Ala3915Thr) rs372987144 0.00006
NM_015512.5(DNAH1):c.1286+10C>T rs185252204 0.00006
NM_015512.5(DNAH1):c.2564A>G (p.Tyr855Cys) rs182519456 0.00006
NM_015512.5(DNAH1):c.2715T>C (p.Asp905=) rs199890146 0.00006
NM_015512.5(DNAH1):c.2980A>G (p.Met994Val) rs746647120 0.00006
NM_015512.5(DNAH1):c.3103C>T (p.Arg1035Cys) rs200988223 0.00006
NM_015512.5(DNAH1):c.4131C>T (p.Ala1377=) rs369871374 0.00006
NM_015512.5(DNAH1):c.4447C>T (p.Arg1483Cys) rs367684134 0.00006
NM_015512.5(DNAH1):c.4530C>T (p.Asn1510=) rs758327285 0.00006
NM_015512.5(DNAH1):c.462C>T (p.Ile154=) rs759571672 0.00006
NM_015512.5(DNAH1):c.483C>T (p.Leu161=) rs372647456 0.00006
NM_015512.5(DNAH1):c.4929G>A (p.Leu1643=) rs764774433 0.00006
NM_015512.5(DNAH1):c.5031C>T (p.Cys1677=) rs541221186 0.00006
NM_015512.5(DNAH1):c.5498G>A (p.Ser1833Asn) rs189264230 0.00006
NM_015512.5(DNAH1):c.577G>A (p.Glu193Lys) rs757070489 0.00006
NM_015512.5(DNAH1):c.5978C>T (p.Ala1993Val) rs373242535 0.00006
NM_015512.5(DNAH1):c.6057C>T (p.Ile2019=) rs371029266 0.00006
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His) rs373906923 0.00006
NM_015512.5(DNAH1):c.6492C>T (p.Asn2164=) rs148269954 0.00006
NM_015512.5(DNAH1):c.6519C>T (p.Tyr2173=) rs777504039 0.00006
NM_015512.5(DNAH1):c.666C>A (p.His222Gln) rs767198288 0.00006
NM_015512.5(DNAH1):c.6960C>T (p.Gly2320=) rs779773823 0.00006
NM_015512.5(DNAH1):c.7294G>C (p.Ala2432Pro) rs546597830 0.00006
NM_015512.5(DNAH1):c.739-16G>T rs765068565 0.00006
NM_015512.5(DNAH1):c.7690G>A (p.Ala2564Thr) rs61734632 0.00006
NM_015512.5(DNAH1):c.7896G>A (p.Ala2632=) rs199613124 0.00006
NM_015512.5(DNAH1):c.8596G>A (p.Asp2866Asn) rs748421970 0.00006
NM_015512.5(DNAH1):c.8633C>T (p.Thr2878Met) rs781146284 0.00006
NM_015512.5(DNAH1):c.9326G>C (p.Cys3109Ser) rs775151697 0.00006
NM_015512.5(DNAH1):c.9893C>T (p.Thr3298Met) rs558196088 0.00006
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln) rs530233908 0.00006
NM_020937.4(FANCM):c.1397-16T>A rs752547104 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) rs746030136 0.00006
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) rs763808637 0.00006
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) rs139376041 0.00006
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00006
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785 0.00006
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) rs150447576 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_033364.4(CFAP91):c.124G>C (p.Asp42His) rs149348782 0.00006
NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg) rs139761671 0.00006
NM_152467.5(KLHL10):c.923T>C (p.Ile308Thr) rs377399919 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_173518.5(MCMDC2):c.1795C>T (p.Arg599Ter) rs370115455 0.00006
NM_001136505.2(TERB1):c.733G>A (p.Gly245Arg) rs766256171 0.00005
NM_001206927.2(DNAH8):c.11106A>T (p.Glu3702Asp) rs113496494 0.00005
NM_001372106.1(DNAH10):c.6017G>A (p.Arg2006Gln) rs369904884 0.00005
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) rs377712900 0.00005
NM_015512.5(DNAH1):c.10151G>A (p.Arg3384His) rs781434212 0.00005
NM_015512.5(DNAH1):c.10384G>A (p.Asp3462Asn) rs529294306 0.00005
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_015512.5(DNAH1):c.1154C>T (p.Thr385Met) rs369555260 0.00005
NM_015512.5(DNAH1):c.11601C>T (p.Ile3867=) rs369752216 0.00005
NM_015512.5(DNAH1):c.12017A>C (p.Gln4006Pro) rs369197857 0.00005
NM_015512.5(DNAH1):c.12441+14C>T rs201618429 0.00005
NM_015512.5(DNAH1):c.2234A>G (p.Gln745Arg) rs769851333 0.00005
NM_015512.5(DNAH1):c.2278_2280del (p.Asn760del) rs774882237 0.00005
NM_015512.5(DNAH1):c.2350C>T (p.Leu784Phe) rs147836376 0.00005
NM_015512.5(DNAH1):c.3569C>T (p.Pro1190Leu) rs369084832 0.00005
NM_015512.5(DNAH1):c.3796C>T (p.Arg1266Cys) rs755852298 0.00005
NM_015512.5(DNAH1):c.4457G>A (p.Arg1486Gln) rs540607147 0.00005
NM_015512.5(DNAH1):c.4833C>T (p.Leu1611=) rs373943792 0.00005
NM_015512.5(DNAH1):c.5531A>G (p.Lys1844Arg) rs371251530 0.00005
NM_015512.5(DNAH1):c.6G>A (p.Glu2=) rs747132091 0.00005
NM_015512.5(DNAH1):c.8434C>T (p.His2812Tyr) rs374543995 0.00005
NM_015512.5(DNAH1):c.8933A>G (p.Tyr2978Cys) rs761794737 0.00005
NM_015512.5(DNAH1):c.9601G>C (p.Val3201Leu) rs776981791 0.00005
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) rs1257244524 0.00005
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys) rs549724218 0.00005
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) rs565347397 0.00005
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879 0.00005
NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu) rs778247426 0.00005
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_053054.4(CATSPER1):c.2269C>T (p.Arg757Cys) rs147304194 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile) rs141560868 0.00005
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr) rs150057448 0.00004
NM_001206927.2(DNAH8):c.5210G>A (p.Arg1737His) rs568480936 0.00004
NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter) rs763654373 0.00004
NM_004959.5(NR5A1):c.1052C>T (p.Ala351Val) rs759071081 0.00004
NM_004959.5(NR5A1):c.87G>A (p.Thr29=) rs750190008 0.00004
NM_005431.2(XRCC2):c.773G>A (p.Arg258His) rs149186933 0.00004
NM_005893.3(CCIN):c.853G>A (p.Gly285Ser) rs750854950 0.00004
NM_015512.5(DNAH1):c.10070T>G (p.Leu3357Arg) rs367975909 0.00004
NM_015512.5(DNAH1):c.10278+3C>G rs760063063 0.00004
NM_015512.5(DNAH1):c.1030G>A (p.Glu344Lys) rs775812913 0.00004
NM_015512.5(DNAH1):c.10344C>T (p.Pro3448=) rs200295282 0.00004
NM_015512.5(DNAH1):c.10448C>T (p.Ser3483Leu) rs200066420 0.00004
NM_015512.5(DNAH1):c.10627-4C>T rs762307252 0.00004
NM_015512.5(DNAH1):c.10771G>C (p.Val3591Leu) rs755963386 0.00004
NM_015512.5(DNAH1):c.10958T>C (p.Ile3653Thr) rs780417209 0.00004
NM_015512.5(DNAH1):c.114G>A (p.Pro38=) rs758216516 0.00004
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs) rs779490893 0.00004
NM_015512.5(DNAH1):c.11784C>T (p.Leu3928=) rs1488797519 0.00004
NM_015512.5(DNAH1):c.12058A>G (p.Met4020Val) rs755049947 0.00004
NM_015512.5(DNAH1):c.12095A>G (p.Asn4032Ser) rs759427194 0.00004
NM_015512.5(DNAH1):c.12191C>A (p.Ala4064Asp) rs891517506 0.00004
NM_015512.5(DNAH1):c.1287-4G>T rs374363260 0.00004
NM_015512.5(DNAH1):c.1313C>G (p.Ala438Gly) rs377236847 0.00004
NM_015512.5(DNAH1):c.1532C>T (p.Thr511Met) rs200623391 0.00004
NM_015512.5(DNAH1):c.1881C>T (p.Ser627=) rs193290403 0.00004
NM_015512.5(DNAH1):c.1897G>A (p.Val633Met) rs770231874 0.00004
NM_015512.5(DNAH1):c.1911C>T (p.Thr637=) rs759143545 0.00004
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004
NM_015512.5(DNAH1):c.197C>T (p.Pro66Leu) rs182751106 0.00004
NM_015512.5(DNAH1):c.2313G>A (p.Thr771=) rs1334735125 0.00004
NM_015512.5(DNAH1):c.2362C>T (p.Arg788Trp) rs766117149 0.00004
NM_015512.5(DNAH1):c.2408T>C (p.Ile803Thr) rs201989206 0.00004
NM_015512.5(DNAH1):c.283C>T (p.Arg95Cys) rs187716200 0.00004
NM_015512.5(DNAH1):c.3093T>C (p.Ser1031=) rs755508561 0.00004
NM_015512.5(DNAH1):c.3380A>G (p.Asn1127Ser) rs200707455 0.00004
NM_015512.5(DNAH1):c.3438C>G (p.Ser1146Arg) rs368850443 0.00004
NM_015512.5(DNAH1):c.3481-9C>T rs774106594 0.00004
NM_015512.5(DNAH1):c.3509C>T (p.Ser1170Leu) rs376804969 0.00004
NM_015512.5(DNAH1):c.3675C>T (p.Asn1225=) rs183711502 0.00004
NM_015512.5(DNAH1):c.3694-4C>G rs550254957 0.00004
NM_015512.5(DNAH1):c.3834G>A (p.Met1278Ile) rs1032198128 0.00004
NM_015512.5(DNAH1):c.4315G>A (p.Ala1439Thr) rs768831672 0.00004
NM_015512.5(DNAH1):c.4375A>C (p.Arg1459=) rs376104739 0.00004
NM_015512.5(DNAH1):c.4490T>G (p.Val1497Gly) rs749000098 0.00004
NM_015512.5(DNAH1):c.4807G>A (p.Val1603Ile) rs773102484 0.00004
NM_015512.5(DNAH1):c.503T>C (p.Leu168Pro) rs374290346 0.00004
NM_015512.5(DNAH1):c.5073G>A (p.Thr1691=) rs370313624 0.00004
NM_015512.5(DNAH1):c.5095-9G>T rs761395939 0.00004
NM_015512.5(DNAH1):c.5571C>T (p.Gly1857=) rs764678460 0.00004
NM_015512.5(DNAH1):c.6258+5A>G rs1311144381 0.00004
NM_015512.5(DNAH1):c.6418-6C>T rs201832370 0.00004
NM_015512.5(DNAH1):c.6788A>G (p.Asn2263Ser) rs140407922 0.00004
NM_015512.5(DNAH1):c.6958G>A (p.Gly2320Ser) rs199780515 0.00004
NM_015512.5(DNAH1):c.6974G>T (p.Arg2325Leu) rs777773562 0.00004
NM_015512.5(DNAH1):c.7013A>C (p.Asn2338Thr) rs745972734 0.00004
NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs) rs762545991 0.00004
NM_015512.5(DNAH1):c.7090C>G (p.Leu2364Val) rs185905489 0.00004
NM_015512.5(DNAH1):c.7199-10A>G rs756419759 0.00004
NM_015512.5(DNAH1):c.732A>G (p.Pro244=) rs374941590 0.00004
NM_015512.5(DNAH1):c.7484G>A (p.Arg2495His) rs183867998 0.00004
NM_015512.5(DNAH1):c.7660G>A (p.Ala2554Thr) rs369957070 0.00004
NM_015512.5(DNAH1):c.7809C>T (p.Ala2603=) rs368368003 0.00004
NM_015512.5(DNAH1):c.8272C>T (p.Leu2758Phe) rs553174635 0.00004
NM_015512.5(DNAH1):c.8514+10G>C rs545437483 0.00004
NM_015512.5(DNAH1):c.8800G>A (p.Asp2934Asn) rs775233870 0.00004
NM_015512.5(DNAH1):c.9169C>T (p.Arg3057Trp) rs200576671 0.00004
NM_015512.5(DNAH1):c.9408G>A (p.Thr3136=) rs774657348 0.00004
NM_015512.5(DNAH1):c.9568G>A (p.Glu3190Lys) rs569771220 0.00004
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) rs759727960 0.00004
NM_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln) rs970203810 0.00004
NM_015512.5(DNAH1):c.9660C>T (p.Asn3220=) rs183262663 0.00004
NM_015512.5(DNAH1):c.9734A>G (p.Lys3245Arg) rs375983121 0.00004
NM_015512.5(DNAH1):c.9952G>A (p.Glu3318Lys) rs921392815 0.00004
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) rs201596252 0.00004
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) rs146291619 0.00004
NM_020937.4(FANCM):c.1752G>A (p.Arg584=) rs373696744 0.00004
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) rs112784867 0.00004
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) rs756249141 0.00004
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876 0.00004
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) rs774142261 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) rs952413457 0.00004
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) rs753876341 0.00004
NM_020937.4(FANCM):c.3882T>C (p.Val1294=) rs774984454 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.4222+5G>A rs201544504 0.00004
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858 0.00004
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) rs767619000 0.00004
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) rs781381334 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_031955.6(SPATA16):c.-141C>T rs886058188 0.00004
NM_031955.6(SPATA16):c.91A>T (p.Met31Leu) rs200087565 0.00004
NM_031956.4(TTC29):c.330_334del (p.Glu111fs) rs766352190 0.00004
NM_053054.4(CATSPER1):c.129C>T (p.Tyr43=) rs34822127 0.00004
NM_053054.4(CATSPER1):c.402G>A (p.Gly134=) rs370953416 0.00004
NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met) rs199696526 0.00004
NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter) rs764070280 0.00004
NM_173628.4(DNAH17):c.11679A>G (p.Gly3893=) rs573132649 0.00004
NM_206996.4(SPAG17):c.4343G>A (p.Arg1448Gln) rs752115449 0.00004
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_001017975.6(HFM1):c.3588+1G>A rs746229304 0.00003
NM_001206927.2(DNAH8):c.106C>T (p.Pro36Ser) rs1178576726 0.00003
NM_001206927.2(DNAH8):c.10963-1G>A rs376903331 0.00003
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter) rs1004968910 0.00003
NM_001388453.1(QRICH2):c.3535C>T (p.Arg1179Ter) rs777214459 0.00003
NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) rs1012697512 0.00003
NM_004959.5(NR5A1):c.777G>A (p.Pro259=) rs529716231 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_015512.5(DNAH1):c.10001C>T (p.Thr3334Met) rs370469158 0.00003
NM_015512.5(DNAH1):c.10005C>T (p.Pro3335=) rs530691167 0.00003
NM_015512.5(DNAH1):c.10474+11C>T rs750347751 0.00003
NM_015512.5(DNAH1):c.10562A>G (p.His3521Arg) rs370864402 0.00003
NM_015512.5(DNAH1):c.10764C>T (p.Ser3588=) rs375328522 0.00003
NM_015512.5(DNAH1):c.10989G>C (p.Val3663=) rs774995725 0.00003
NM_015512.5(DNAH1):c.1120C>T (p.Arg374Cys) rs188467919 0.00003
NM_015512.5(DNAH1):c.1138G>A (p.Ala380Thr) rs564408891 0.00003
NM_015512.5(DNAH1):c.11890G>A (p.Ala3964Thr) rs373632520 0.00003
NM_015512.5(DNAH1):c.12143del (p.Ala4048fs) rs746049858 0.00003
NM_015512.5(DNAH1):c.1268G>A (p.Arg423Gln) rs761468870 0.00003
NM_015512.5(DNAH1):c.129A>G (p.Pro43=) rs373701749 0.00003
NM_015512.5(DNAH1):c.1593G>A (p.Ser531=) rs370224947 0.00003
NM_015512.5(DNAH1):c.1835G>A (p.Arg612His) rs371402883 0.00003
NM_015512.5(DNAH1):c.1955+10G>A rs777008373 0.00003
NM_015512.5(DNAH1):c.1967A>G (p.Asn656Ser) rs1401244666 0.00003
NM_015512.5(DNAH1):c.2083C>A (p.His695Asn) rs751919243 0.00003
NM_015512.5(DNAH1):c.2133C>T (p.Ser711=) rs374015766 0.00003
NM_015512.5(DNAH1):c.2276A>G (p.Asn759Ser) rs918481447 0.00003
NM_015512.5(DNAH1):c.233G>A (p.Arg78Gln) rs750191626 0.00003
NM_015512.5(DNAH1):c.2431G>A (p.Asp811Asn) rs772838797 0.00003
NM_015512.5(DNAH1):c.2532C>T (p.Cys844=) rs367573092 0.00003
NM_015512.5(DNAH1):c.2683A>G (p.Met895Val) rs763268455 0.00003
NM_015512.5(DNAH1):c.2730-6G>A rs779985508 0.00003
NM_015512.5(DNAH1):c.2815C>T (p.Arg939Cys) rs372568029 0.00003
NM_015512.5(DNAH1):c.2950A>G (p.Lys984Glu) rs199732339 0.00003
NM_015512.5(DNAH1):c.2998G>A (p.Glu1000Lys) rs541642930 0.00003
NM_015512.5(DNAH1):c.3139G>A (p.Ala1047Thr) rs1296069584 0.00003
NM_015512.5(DNAH1):c.3227-14G>A rs765943027 0.00003
NM_015512.5(DNAH1):c.348C>A (p.Gly116=) rs779186461 0.00003
NM_015512.5(DNAH1):c.353G>A (p.Arg118Gln) rs370930322 0.00003
NM_015512.5(DNAH1):c.3780G>C (p.Leu1260=) rs765669650 0.00003
NM_015512.5(DNAH1):c.3814C>T (p.Arg1272Trp) rs778942324 0.00003
NM_015512.5(DNAH1):c.4453C>G (p.Gln1485Glu) rs200763734 0.00003
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp) rs561508479 0.00003
NM_015512.5(DNAH1):c.485C>T (p.Ala162Val) rs993782683 0.00003
NM_015512.5(DNAH1):c.4959C>T (p.Ile1653=) rs542195791 0.00003
NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter) rs766323732 0.00003
NM_015512.5(DNAH1):c.5133C>T (p.Tyr1711=) rs777932730 0.00003
NM_015512.5(DNAH1):c.5157C>T (p.Leu1719=) rs770135382 0.00003
NM_015512.5(DNAH1):c.5301C>G (p.Asn1767Lys) rs762663322 0.00003
NM_015512.5(DNAH1):c.5348G>A (p.Arg1783Gln) rs371787188 0.00003
NM_015512.5(DNAH1):c.5412C>T (p.Ile1804=) rs771985542 0.00003
NM_015512.5(DNAH1):c.5580C>T (p.Leu1860=) rs775222234 0.00003
NM_015512.5(DNAH1):c.5837T>C (p.Met1946Thr) rs777353614 0.00003
NM_015512.5(DNAH1):c.6913G>A (p.Gly2305Ser) rs779863598 0.00003
NM_015512.5(DNAH1):c.6985+13G>A rs367913918 0.00003
NM_015512.5(DNAH1):c.7038G>A (p.Pro2346=) rs752238504 0.00003
NM_015512.5(DNAH1):c.7188G>C (p.Arg2396=) rs999878748 0.00003
NM_015512.5(DNAH1):c.7263A>G (p.Ala2421=) rs375105856 0.00003
NM_015512.5(DNAH1):c.7351C>T (p.Leu2451Phe) rs780039638 0.00003
NM_015512.5(DNAH1):c.7436G>A (p.Arg2479Gln) rs763423150 0.00003
NM_015512.5(DNAH1):c.7483C>T (p.Arg2495Cys) rs545683519 0.00003
NM_015512.5(DNAH1):c.7718G>A (p.Arg2573His) rs576324030 0.00003
NM_015512.5(DNAH1):c.77T>C (p.Val26Ala) rs772550201 0.00003
NM_015512.5(DNAH1):c.7886T>C (p.Leu2629Pro) rs759593608 0.00003
NM_015512.5(DNAH1):c.7978G>A (p.Val2660Ile) rs768620121 0.00003
NM_015512.5(DNAH1):c.8142G>A (p.Leu2714=) rs376732588 0.00003
NM_015512.5(DNAH1):c.8607C>T (p.Leu2869=) rs1220539629 0.00003
NM_015512.5(DNAH1):c.8681A>G (p.Lys2894Arg) rs192608206 0.00003
NM_015512.5(DNAH1):c.8816G>A (p.Arg2939His) rs749580264 0.00003
NM_015512.5(DNAH1):c.8838G>A (p.Pro2946=) rs547630757 0.00003
NM_015512.5(DNAH1):c.8967G>A (p.Pro2989=) rs754243654 0.00003
NM_015512.5(DNAH1):c.9042G>A (p.Pro3014=) rs61734630 0.00003
NM_015512.5(DNAH1):c.9123C>T (p.Arg3041=) rs368440271 0.00003
NM_015512.5(DNAH1):c.9330G>A (p.Glu3110=) rs762482660 0.00003
NM_015512.5(DNAH1):c.970G>A (p.Glu324Lys) rs758909731 0.00003
NM_015512.5(DNAH1):c.9850G>A (p.Glu3284Lys) rs376653399 0.00003
NM_015512.5(DNAH1):c.9891+19T>A rs369106781 0.00003
NM_018995.3(MOV10L1):c.743+5G>A rs367878826 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) rs775663650 0.00003
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995 0.00003
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr) rs752914487 0.00003
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) rs1180319315 0.00003
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) rs946759727 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) rs553521590 0.00003
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) rs368982372 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) rs949619907 0.00003
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280 0.00003
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) rs192079020 0.00003
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys) rs751006401 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_025145.7(CFAP43):c.4132C>T (p.Arg1378Ter) rs768831533 0.00003
NM_031272.5(TEX14):c.254G>T (p.Arg85Leu) rs761592042 0.00003
NM_031955.6(SPATA16):c.1513C>T (p.Leu505=) rs758141708 0.00003
NM_031955.6(SPATA16):c.995C>T (p.Ala332Val) rs544088248 0.00003
NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys) rs398123027 0.00003
NM_053054.4(CATSPER1):c.1544-10G>A rs764182570 0.00003
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys) rs754130052 0.00003
NM_152448.3(TERB2):c.544dup (p.Met182fs) rs1218912028 0.00003
NM_173812.5(DPY19L2):c.1183del (p.Ser395fs) rs751879424 0.00003
NM_173812.5(DPY19L2):c.1218+1G>A rs868256749 0.00003
NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter) rs587777205 0.00003
NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter) rs756973049 0.00003
NM_207189.4(BRDT):c.2783G>A (p.Gly928Asp) rs754258809 0.00003
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988 0.00002
NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys) rs780421901 0.00002
NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs) rs754159168 0.00002
NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys) rs750057655 0.00002
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His) rs533026166 0.00002
NM_002816.5(PSMD12):c.211G>T (p.Val71Leu) rs1332334979 0.00002
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) rs387906690 0.00002
NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) rs761496130 0.00002
NM_004959.5(NR5A1):c.485G>T (p.Gly162Val) rs1380810335 0.00002
NM_005431.2(XRCC2):c.440T>A (p.Ile147Asn) rs776710231 0.00002
NM_005431.2(XRCC2):c.667T>C (p.Tyr223His) rs587780130 0.00002
NM_015512.5(DNAH1):c.1006A>G (p.Ile336Val) rs747931853 0.00002
NM_015512.5(DNAH1):c.10279G>T (p.Ala3427Ser) rs200093731 0.00002
NM_015512.5(DNAH1):c.10345G>A (p.Val3449Met) rs757371106 0.00002
NM_015512.5(DNAH1):c.10590T>C (p.Cys3530=) rs776583735 0.00002
NM_015512.5(DNAH1):c.10733C>T (p.Ser3578Leu) rs766811915 0.00002
NM_015512.5(DNAH1):c.1108A>G (p.Met370Val) rs751414629 0.00002
NM_015512.5(DNAH1):c.11127+7G>A rs1162986888 0.00002
NM_015512.5(DNAH1):c.112C>A (p.Pro38Thr) rs759317020 0.00002
NM_015512.5(DNAH1):c.11361C>T (p.Arg3787=) rs372686964 0.00002
NM_015512.5(DNAH1):c.113C>T (p.Pro38Leu) rs752563791 0.00002
NM_015512.5(DNAH1):c.11552G>A (p.Arg3851His) rs757435709 0.00002
NM_015512.5(DNAH1):c.11748G>A (p.Ser3916=) rs373306491 0.00002
NM_015512.5(DNAH1):c.11787C>T (p.His3929=) rs763327180 0.00002
NM_015512.5(DNAH1):c.11959-8C>T rs761685626 0.00002
NM_015512.5(DNAH1):c.12749G>A (p.Arg4250Gln) rs539470500 0.00002
NM_015512.5(DNAH1):c.1335T>C (p.Tyr445=) rs868394302 0.00002
NM_015512.5(DNAH1):c.1469A>G (p.His490Arg) rs1449951214 0.00002
NM_015512.5(DNAH1):c.1692G>A (p.Ser564=) rs772077602 0.00002
NM_015512.5(DNAH1):c.1709G>A (p.Arg570His) rs771126013 0.00002
NM_015512.5(DNAH1):c.1798A>G (p.Met600Val) rs780334592 0.00002
NM_015512.5(DNAH1):c.1803G>A (p.Glu601=) rs201826190 0.00002
NM_015512.5(DNAH1):c.1960C>T (p.Arg654Trp) rs755225053 0.00002
NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln) rs763577633 0.00002
NM_015512.5(DNAH1):c.2343G>A (p.Glu781=) rs1339813561 0.00002
NM_015512.5(DNAH1):c.2667G>A (p.Met889Ile) rs1316549411 0.00002
NM_015512.5(DNAH1):c.2739C>T (p.Ala913=) rs774502208 0.00002
NM_015512.5(DNAH1):c.3226+16G>A rs772190554 0.00002
NM_015512.5(DNAH1):c.3259C>T (p.Arg1087Cys) rs540247484 0.00002
NM_015512.5(DNAH1):c.333G>A (p.Gly111=) rs745428356 0.00002
NM_015512.5(DNAH1):c.3573C>T (p.Asp1191=) rs541334137 0.00002
NM_015512.5(DNAH1):c.3604G>A (p.Val1202Ile) rs200103057 0.00002
NM_015512.5(DNAH1):c.377A>G (p.Gln126Arg) rs1016034342 0.00002
NM_015512.5(DNAH1):c.3815G>A (p.Arg1272Gln) rs748124296 0.00002
NM_015512.5(DNAH1):c.3833T>C (p.Met1278Thr) rs764848129 0.00002
NM_015512.5(DNAH1):c.3858+5G>C rs755582453 0.00002
NM_015512.5(DNAH1):c.4022C>T (p.Ser1341Leu) rs374727086 0.00002
NM_015512.5(DNAH1):c.4231G>A (p.Asp1411Asn) rs373438684 0.00002
NM_015512.5(DNAH1):c.4266+7C>T rs769841245 0.00002
NM_015512.5(DNAH1):c.4521C>T (p.Ile1507=) rs186620563 0.00002
NM_015512.5(DNAH1):c.4571+17C>T rs370224602 0.00002
NM_015512.5(DNAH1):c.4603C>T (p.Arg1535Cys) rs775222435 0.00002
NM_015512.5(DNAH1):c.479T>C (p.Leu160Pro) rs1018979330 0.00002
NM_015512.5(DNAH1):c.5105G>A (p.Arg1702Gln) rs753810465 0.00002
NM_015512.5(DNAH1):c.5611-1G>A rs759219188 0.00002
NM_015512.5(DNAH1):c.5794C>T (p.Arg1932Trp) rs770638269 0.00002
NM_015512.5(DNAH1):c.5883G>A (p.Thr1961=) rs766264889 0.00002
NM_015512.5(DNAH1):c.6005G>A (p.Arg2002His) rs747073645 0.00002
NM_015512.5(DNAH1):c.6642C>T (p.Asp2214=) rs760029791 0.00002
NM_015512.5(DNAH1):c.6739C>G (p.Leu2247Val) rs763045954 0.00002
NM_015512.5(DNAH1):c.6829C>T (p.Arg2277Trp) rs749114791 0.00002
NM_015512.5(DNAH1):c.6982A>G (p.Ile2328Val) rs377326562 0.00002
NM_015512.5(DNAH1):c.7187G>A (p.Arg2396Gln) rs200988349 0.00002
NM_015512.5(DNAH1):c.7261G>A (p.Ala2421Thr) rs763046158 0.00002
NM_015512.5(DNAH1):c.738+17C>T rs1173036203 0.00002
NM_015512.5(DNAH1):c.7609-14G>A rs947898553 0.00002
NM_015512.5(DNAH1):c.7653C>G (p.Ile2551Met) rs371803497 0.00002
NM_015512.5(DNAH1):c.7759G>A (p.Val2587Met) rs747611842 0.00002
NM_015512.5(DNAH1):c.7806-8G>T rs1004386370 0.00002
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015512.5(DNAH1):c.8402A>G (p.Tyr2801Cys) rs367709805 0.00002
NM_015512.5(DNAH1):c.8610C>T (p.Thr2870=) rs761054590 0.00002
NM_015512.5(DNAH1):c.8640C>T (p.Ile2880=) rs760234205 0.00002
NM_015512.5(DNAH1):c.8748G>A (p.Ala2916=) rs200942259 0.00002
NM_015512.5(DNAH1):c.894G>C (p.Leu298=) rs755391323 0.00002
NM_015512.5(DNAH1):c.9124G>A (p.Ala3042Thr) rs759706633 0.00002
NM_015512.5(DNAH1):c.9364-17C>T rs150299617 0.00002
NM_020877.5(DNAH2):c.11503T>C (p.Ser3835Pro) rs545849987 0.00002
NM_020877.5(DNAH2):c.6960C>A (p.Ser2320Arg) rs763882266 0.00002
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) rs369752557 0.00002
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) rs150185654 0.00002
NM_020937.4(FANCM):c.1255A>G (p.Met419Val) rs552281088 0.00002
NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln) rs932978530 0.00002
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) rs1226481393 0.00002
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) rs371569048 0.00002
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) rs763495035 0.00002
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) rs368303133 0.00002
NM_020937.4(FANCM):c.242C>T (p.Ala81Val) rs538464580 0.00002
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu) rs371688801 0.00002
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) rs188528606 0.00002
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg) rs1037864411 0.00002
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) rs200017450 0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) rs772477865 0.00002
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) rs747787931 0.00002
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) rs142077813 0.00002
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) rs200028975 0.00002
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) rs765860916 0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) rs759068569 0.00002
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) rs763226965 0.00002
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) rs139736490 0.00002
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) rs750156990 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln) rs143065627 0.00002
NM_031955.6(SPATA16):c.613-13A>G rs749048781 0.00002
NM_031955.6(SPATA16):c.750T>C (p.His250=) rs758393334 0.00002
NM_031955.6(SPATA16):c.873G>A (p.Met291Ile) rs368670834 0.00002
NM_033123.4(PLCZ1):c.588C>A (p.Cys196Ter) rs535719220 0.00002
NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) rs1472467905 0.00002
NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp) rs764233008 0.00002
NM_053054.4(CATSPER1):c.1544-11C>T rs567657527 0.00002
NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser) rs760223439 0.00002
NM_053054.4(CATSPER1):c.773G>A (p.Arg258His) rs372082637 0.00002
NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter) rs1386324073 0.00002
NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys) rs187626415 0.00002
NM_153046.3(TDRD9):c.448G>A (p.Val150Met) rs752708200 0.00002
NM_173812.5(DPY19L2):c.893G>A (p.Arg298His) rs752764341 0.00002
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_001015878.2(AURKC):c.-38G>T rs770401705 0.00001
NM_001015878.2(AURKC):c.184C>T (p.Leu62Phe) rs886054645 0.00001
NM_001015878.2(AURKC):c.689A>G (p.Tyr230Cys) rs761881153 0.00001
NM_001015878.2(AURKC):c.779T>C (p.Leu260Pro) rs763668016 0.00001
NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln) rs748343941 0.00001
NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter) rs768989830 0.00001
NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter) rs1355278372 0.00001
NM_001102592.2(HENMT1):c.226G>A (p.Gly76Arg) rs1383002765 0.00001
NM_001143764.3(SYCE1):c.197-2A>G rs774225566 0.00001
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) rs777477439 0.00001
NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) rs780798708 0.00001
NM_001177949.2(SYCP3):c.-64C>T rs886048840 0.00001
NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter) rs143892062 0.00001
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met) rs758338554 0.00001
NM_001271718.2(SPINK2):c.206-3C>G rs577163578 0.00001
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter) rs200629089 0.00001
NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg) rs1161498711 0.00001
NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter) rs751680143 0.00001
NM_001304548.2(CFAP47):c.5224A>G (p.Ser1742Gly) rs1214810484 0.00001
NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr) rs1317932026 0.00001
NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu) rs751126701 0.00001
NM_001366102.1(TDRD12):c.2432G>A (p.Arg811Gln) rs1262515590 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001372106.1(DNAH10):c.12241C>T (p.Arg4081Cys) rs755346965 0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg) rs759073156 0.00001
NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser) rs771006247 0.00001
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs) rs779445148 0.00001
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr) rs755742775 0.00001
NM_001388453.1(QRICH2):c.3999C>G (p.Tyr1333Ter) rs934388592 0.00001
NM_004959.5(NR5A1):c.1079C>T (p.Ala360Val) rs369097872 0.00001
NM_004959.5(NR5A1):c.162C>A (p.Ser54Arg) rs759670090 0.00001
NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) rs944587497 0.00001
NM_004959.5(NR5A1):c.522C>T (p.Pro174=) rs1225293958 0.00001
NM_004959.5(NR5A1):c.793C>T (p.Leu265=) rs755558587 0.00001
NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) rs1832340912 0.00001
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_013264.5(DDX25):c.1129C>T (p.Arg377Ter) rs779794319 0.00001
NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=) rs554676148 0.00001
NM_015512.5(DNAH1):c.10076G>A (p.Gly3359Asp) rs1437972390 0.00001
NM_015512.5(DNAH1):c.10150C>T (p.Arg3384Cys) rs775624344 0.00001
NM_015512.5(DNAH1):c.10184T>C (p.Leu3395Pro) rs1446360887 0.00001
NM_015512.5(DNAH1):c.1019G>C (p.Gly340Ala) rs963552743 0.00001
NM_015512.5(DNAH1):c.10228G>C (p.Glu3410Gln) rs756718622 0.00001
NM_015512.5(DNAH1):c.10306G>C (p.Glu3436Gln) rs1270529658 0.00001
NM_015512.5(DNAH1):c.10383C>T (p.Ser3461=) rs774787337 0.00001
NM_015512.5(DNAH1):c.10489C>T (p.Arg3497Cys) rs1011281568 0.00001
NM_015512.5(DNAH1):c.1049A>G (p.Gln350Arg) rs1429583662 0.00001
NM_015512.5(DNAH1):c.10649C>A (p.Ser3550Tyr) rs1194381158 0.00001
NM_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu) rs369548008 0.00001
NM_015512.5(DNAH1):c.10688C>T (p.Pro3563Leu) rs866647249 0.00001
NM_015512.5(DNAH1):c.10763C>G (p.Ser3588Cys) rs138604187 0.00001
NM_015512.5(DNAH1):c.10806C>G (p.Asp3602Glu) rs370017937 0.00001
NM_015512.5(DNAH1):c.10941C>T (p.Asn3647=) rs757317940 0.00001
NM_015512.5(DNAH1):c.10997A>T (p.Asp3666Val) rs1418695580 0.00001
NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys) rs369995851 0.00001
NM_015512.5(DNAH1):c.11202G>A (p.Leu3734=) rs1297941367 0.00001
NM_015512.5(DNAH1):c.11251C>G (p.Pro3751Ala) rs1371620189 0.00001
NM_015512.5(DNAH1):c.11307G>A (p.Lys3769=) rs767374145 0.00001
NM_015512.5(DNAH1):c.1142T>C (p.Leu381Pro) rs773919327 0.00001
NM_015512.5(DNAH1):c.11528A>G (p.Tyr3843Cys) rs776417515 0.00001
NM_015512.5(DNAH1):c.11586C>T (p.Asp3862=) rs1018192994 0.00001
NM_015512.5(DNAH1):c.11647G>A (p.Gly3883Ser) rs375133650 0.00001
NM_015512.5(DNAH1):c.11671C>T (p.Arg3891Trp) rs774152723 0.00001
NM_015512.5(DNAH1):c.11727T>A (p.Pro3909=) rs545558021 0.00001
NM_015512.5(DNAH1):c.11769G>A (p.Pro3923=) rs1024381509 0.00001
NM_015512.5(DNAH1):c.1176C>T (p.Asn392=) rs767304557 0.00001
NM_015512.5(DNAH1):c.11853C>T (p.Asp3951=) rs552681670 0.00001
NM_015512.5(DNAH1):c.11861A>C (p.Asn3954Thr) rs769848353 0.00001
NM_015512.5(DNAH1):c.11931T>A (p.Ser3977=) rs1259419226 0.00001
NM_015512.5(DNAH1):c.11958+5G>C rs749479420 0.00001
NM_015512.5(DNAH1):c.11971G>A (p.Val3991Ile) rs779098163 0.00001
NM_015512.5(DNAH1):c.12093C>T (p.Tyr4031=) rs776568677 0.00001
NM_015512.5(DNAH1):c.12117A>G (p.Thr4039=) rs750973090 0.00001
NM_015512.5(DNAH1):c.12228T>A (p.Ser4076Arg) rs754282864 0.00001
NM_015512.5(DNAH1):c.12286C>T (p.Arg4096Cys) rs375547860 0.00001
NM_015512.5(DNAH1):c.12339G>A (p.Trp4113Ter) rs767196276 0.00001
NM_015512.5(DNAH1):c.12397C>T (p.Arg4133Cys) rs776800142 0.00001
NM_015512.5(DNAH1):c.12572T>C (p.Leu4191Pro) rs370146778 0.00001
NM_015512.5(DNAH1):c.12576C>T (p.Tyr4192=) rs1166558325 0.00001
NM_015512.5(DNAH1):c.12617G>A (p.Arg4206His) rs528880647 0.00001
NM_015512.5(DNAH1):c.12635A>T (p.Asp4212Val) rs201759347 0.00001
NM_015512.5(DNAH1):c.12676+7G>A rs1416480233 0.00001
NM_015512.5(DNAH1):c.12757A>G (p.Ile4253Val) rs527445118 0.00001
NM_015512.5(DNAH1):c.1516C>T (p.Arg506Trp) rs532226080 0.00001
NM_015512.5(DNAH1):c.1517G>A (p.Arg506Gln) rs375629993 0.00001
NM_015512.5(DNAH1):c.1528A>G (p.Ile510Val) rs1425420501 0.00001
NM_015512.5(DNAH1):c.1572C>T (p.Thr524=) rs565874512 0.00001
NM_015512.5(DNAH1):c.1657-4C>G rs1345084740 0.00001
NM_015512.5(DNAH1):c.1704C>T (p.Ala568=) rs1206321186 0.00001
NM_015512.5(DNAH1):c.1723G>A (p.Asp575Asn) rs1024573062 0.00001
NM_015512.5(DNAH1):c.1790G>A (p.Arg597His) rs373434606 0.00001
NM_015512.5(DNAH1):c.1854A>C (p.Ser618=) rs374578700 0.00001
NM_015512.5(DNAH1):c.1882G>A (p.Asp628Asn) rs577852167 0.00001
NM_015512.5(DNAH1):c.1932C>T (p.Asp644=) rs375044038 0.00001
NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs) rs1297408310 0.00001
NM_015512.5(DNAH1):c.2010G>A (p.Val670=) rs374276165 0.00001
NM_015512.5(DNAH1):c.2104A>C (p.Lys702Gln) rs754431164 0.00001
NM_015512.5(DNAH1):c.2134G>A (p.Gly712Ser) rs777353076 0.00001
NM_015512.5(DNAH1):c.2144T>A (p.Leu715Gln) rs867803314 0.00001
NM_015512.5(DNAH1):c.2242G>A (p.Ala748Thr) rs1360391376 0.00001
NM_015512.5(DNAH1):c.2246A>G (p.Lys749Arg) rs768573779 0.00001
NM_015512.5(DNAH1):c.2255G>C (p.Arg752Pro) rs749446487 0.00001
NM_015512.5(DNAH1):c.2300+5G>A rs781060120 0.00001
NM_015512.5(DNAH1):c.2300+8C>T rs750105161 0.00001
NM_015512.5(DNAH1):c.2376C>T (p.Ile792=) rs752578416 0.00001
NM_015512.5(DNAH1):c.241C>T (p.Pro81Ser) rs770488524 0.00001
NM_015512.5(DNAH1):c.2602C>T (p.Arg868Ter) rs778209826 0.00001
NM_015512.5(DNAH1):c.2849A>G (p.Gln950Arg) rs747471047 0.00001
NM_015512.5(DNAH1):c.2872-14T>C rs556995558 0.00001
NM_015512.5(DNAH1):c.2872-5T>C rs771276529 0.00001
NM_015512.5(DNAH1):c.2931C>T (p.Asn977=) rs377200347 0.00001
NM_015512.5(DNAH1):c.3001C>T (p.Arg1001Cys) rs923937332 0.00001
NM_015512.5(DNAH1):c.3028-6C>G rs549292053 0.00001
NM_015512.5(DNAH1):c.3046A>T (p.Met1016Leu) rs767725838 0.00001
NM_015512.5(DNAH1):c.3144C>T (p.Ile1048=) rs886609213 0.00001
NM_015512.5(DNAH1):c.3169G>A (p.Val1057Met) rs570416427 0.00001
NM_015512.5(DNAH1):c.3227-6C>T rs373688652 0.00001
NM_015512.5(DNAH1):c.3261C>T (p.Arg1087=) rs1396523384 0.00001
NM_015512.5(DNAH1):c.3305G>A (p.Arg1102His) rs746027255 0.00001
NM_015512.5(DNAH1):c.3326G>A (p.Arg1109Gln) rs762291689 0.00001
NM_015512.5(DNAH1):c.3426C>G (p.Ile1142Met) rs781118318 0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_015512.5(DNAH1):c.3512C>T (p.Thr1171Ile) rs1363854699 0.00001
NM_015512.5(DNAH1):c.3552C>T (p.Thr1184=) rs1293902980 0.00001
NM_015512.5(DNAH1):c.3574G>A (p.Glu1192Lys) rs773780728 0.00001
NM_015512.5(DNAH1):c.3594C>T (p.Asp1198=) rs561641586 0.00001
NM_015512.5(DNAH1):c.3658A>G (p.Ile1220Val) rs769690333 0.00001
NM_015512.5(DNAH1):c.373C>T (p.Arg125Trp) rs745363325 0.00001
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter) rs1415820936 0.00001
NM_015512.5(DNAH1):c.3819C>T (p.Ile1273=) rs773471726 0.00001
NM_015512.5(DNAH1):c.3858+10A>G rs930130674 0.00001
NM_015512.5(DNAH1):c.3915G>C (p.Lys1305Asn) rs1004871183 0.00001
NM_015512.5(DNAH1):c.3930G>A (p.Val1310=) rs374009824 0.00001
NM_015512.5(DNAH1):c.3980+1G>C rs1483000682 0.00001
NM_015512.5(DNAH1):c.4044C>T (p.Ala1348=) rs376898687 0.00001
NM_015512.5(DNAH1):c.4045G>A (p.Val1349Met) rs748397704 0.00001
NM_015512.5(DNAH1):c.4081G>A (p.Ala1361Thr) rs1464145145 0.00001
NM_015512.5(DNAH1):c.409G>A (p.Gly137Arg) rs770952001 0.00001
NM_015512.5(DNAH1):c.4115C>T (p.Thr1372Met) rs374644342 0.00001
NM_015512.5(DNAH1):c.4122G>A (p.Met1374Ile) rs982525821 0.00001
NM_015512.5(DNAH1):c.4167C>A (p.Tyr1389Ter) rs752041071 0.00001
NM_015512.5(DNAH1):c.4196G>A (p.Arg1399Gln) rs759559144 0.00001
NM_015512.5(DNAH1):c.42C>T (p.Thr14=) rs775936085 0.00001
NM_015512.5(DNAH1):c.4309A>G (p.Thr1437Ala) rs1334897226 0.00001
NM_015512.5(DNAH1):c.4353G>A (p.Glu1451=) rs560651490 0.00001
NM_015512.5(DNAH1):c.4407+8T>C rs767143736 0.00001
NM_015512.5(DNAH1):c.442C>T (p.Arg148Cys) rs1438410477 0.00001
NM_015512.5(DNAH1):c.4435G>C (p.Gly1479Arg) rs371500729 0.00001
NM_015512.5(DNAH1):c.4670C>T (p.Thr1557Met) rs371364322 0.00001
NM_015512.5(DNAH1):c.4705G>A (p.Gly1569Arg) rs758847297 0.00001
NM_015512.5(DNAH1):c.4818C>T (p.Asn1606=) rs1198918082 0.00001
NM_015512.5(DNAH1):c.4874+13A>G rs1277485162 0.00001
NM_015512.5(DNAH1):c.4952C>T (p.Thr1651Ile) rs777405979 0.00001
NM_015512.5(DNAH1):c.5004T>G (p.Gly1668=) rs746782436 0.00001
NM_015512.5(DNAH1):c.5055G>A (p.Pro1685=) rs761433531 0.00001
NM_015512.5(DNAH1):c.5062G>A (p.Ala1688Thr) rs755991808 0.00001
NM_015512.5(DNAH1):c.5095-11G>C rs1199797053 0.00001
NM_015512.5(DNAH1):c.5116A>G (p.Met1706Val) rs1303254929 0.00001
NM_015512.5(DNAH1):c.5244+1G>A rs369746640 0.00001
NM_015512.5(DNAH1):c.5252A>G (p.Tyr1751Cys) rs1262767404 0.00001
NM_015512.5(DNAH1):c.5311G>A (p.Glu1771Lys) rs1479169341 0.00001
NM_015512.5(DNAH1):c.5347C>T (p.Arg1783Trp) rs759947620 0.00001
NM_015512.5(DNAH1):c.5451G>A (p.Thr1817=) rs372963290 0.00001
NM_015512.5(DNAH1):c.5458G>A (p.Gly1820Ser) rs751526472 0.00001
NM_015512.5(DNAH1):c.548C>T (p.Pro183Leu) rs181177631 0.00001
NM_015512.5(DNAH1):c.5518+10G>A rs201549764 0.00001
NM_015512.5(DNAH1):c.5528C>A (p.Thr1843Lys) rs368356036 0.00001
NM_015512.5(DNAH1):c.5546A>G (p.Tyr1849Cys) rs769961405 0.00001
NM_015512.5(DNAH1):c.5694C>T (p.Tyr1898=) rs1439300472 0.00001
NM_015512.5(DNAH1):c.5766-8C>T rs757582888 0.00001
NM_015512.5(DNAH1):c.582-19C>T rs1188626824 0.00001
NM_015512.5(DNAH1):c.582-6G>T rs1453796788 0.00001
NM_015512.5(DNAH1):c.582-9C>T rs779054079 0.00001
NM_015512.5(DNAH1):c.5953A>G (p.Met1985Val) rs376873184 0.00001
NM_015512.5(DNAH1):c.6000C>A (p.Val2000=) rs747980793 0.00001
NM_015512.5(DNAH1):c.6002C>T (p.Ser2001Phe) rs772200369 0.00001
NM_015512.5(DNAH1):c.6052T>G (p.Phe2018Val) rs377384146 0.00001
NM_015512.5(DNAH1):c.605T>C (p.Leu202Pro) rs1395611267 0.00001
NM_015512.5(DNAH1):c.6133C>G (p.Leu2045Val) rs770199041 0.00001
NM_015512.5(DNAH1):c.6180C>T (p.Ile2060=) rs369225035 0.00001
NM_015512.5(DNAH1):c.6183C>T (p.Ala2061=) rs769372759 0.00001
NM_015512.5(DNAH1):c.6253A>G (p.Arg2085Gly) rs772617206 0.00001
NM_015512.5(DNAH1):c.639C>T (p.Ile213=) rs548996613 0.00001
NM_015512.5(DNAH1):c.6433C>T (p.Pro2145Ser) rs1476385255 0.00001
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln) rs946605027 0.00001
NM_015512.5(DNAH1):c.658C>T (p.Pro220Ser) rs370296891 0.00001
NM_015512.5(DNAH1):c.6644T>C (p.Met2215Thr) rs765762844 0.00001
NM_015512.5(DNAH1):c.6650T>C (p.Leu2217Pro) rs1044027374 0.00001
NM_015512.5(DNAH1):c.6666+9C>T rs1044782695 0.00001
NM_015512.5(DNAH1):c.6723C>G (p.Leu2241=) rs371686959 0.00001
NM_015512.5(DNAH1):c.6733C>G (p.Leu2245Val) rs765020173 0.00001
NM_015512.5(DNAH1):c.6827+15C>T rs767562933 0.00001
NM_015512.5(DNAH1):c.6860G>A (p.Arg2287His) rs760638746 0.00001
NM_015512.5(DNAH1):c.6890A>C (p.Asn2297Thr) rs988757529 0.00001
NM_015512.5(DNAH1):c.6941G>A (p.Arg2314His) rs759815756 0.00001
NM_015512.5(DNAH1):c.6999C>G (p.Asn2333Lys) rs1274495133 0.00001
NM_015512.5(DNAH1):c.7066C>T (p.Arg2356Trp) rs780050981 0.00001
NM_015512.5(DNAH1):c.7142T>C (p.Ile2381Thr) rs552394693 0.00001
NM_015512.5(DNAH1):c.7150A>C (p.Asn2384His) rs1403012259 0.00001
NM_015512.5(DNAH1):c.7198+4A>C rs548883682 0.00001
NM_015512.5(DNAH1):c.7199-20C>T rs369229247 0.00001
NM_015512.5(DNAH1):c.7227G>A (p.Thr2409=) rs776100134 0.00001
NM_015512.5(DNAH1):c.738+20A>G rs1168790778 0.00001
NM_015512.5(DNAH1):c.7467C>T (p.Phe2489=) rs753364131 0.00001
NM_015512.5(DNAH1):c.7487G>T (p.Cys2496Phe) rs747106981 0.00001
NM_015512.5(DNAH1):c.7545C>T (p.Tyr2515=) rs368503214 0.00001
NM_015512.5(DNAH1):c.754G>A (p.Asp252Asn) rs1315748049 0.00001
NM_015512.5(DNAH1):c.7581C>T (p.Ser2527=) rs777693111 0.00001
NM_015512.5(DNAH1):c.7612A>T (p.Met2538Leu) rs757228664 0.00001
NM_015512.5(DNAH1):c.7625A>G (p.Glu2542Gly) rs1160595853 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015512.5(DNAH1):c.7733C>T (p.Ala2578Val) rs1479974777 0.00001
NM_015512.5(DNAH1):c.7739G>T (p.Gly2580Val) rs1703856754 0.00001
NM_015512.5(DNAH1):c.7758C>T (p.Gly2586=) rs777996660 0.00001
NM_015512.5(DNAH1):c.7771G>A (p.Gly2591Ser) rs762413952 0.00001
NM_015512.5(DNAH1):c.7789A>T (p.Arg2597Trp) rs1382384885 0.00001
NM_015512.5(DNAH1):c.7805+6C>T rs370368596 0.00001
NM_015512.5(DNAH1):c.7816G>A (p.Glu2606Lys) rs751973219 0.00001
NM_015512.5(DNAH1):c.7881G>A (p.Lys2627=) rs1272690321 0.00001
NM_015512.5(DNAH1):c.8108C>T (p.Thr2703Ile) rs763545067 0.00001
NM_015512.5(DNAH1):c.8113C>T (p.Arg2705Cys) rs767190386 0.00001
NM_015512.5(DNAH1):c.8151-20T>G rs1339225413 0.00001
NM_015512.5(DNAH1):c.8217C>T (p.Ile2739=) rs571903508 0.00001
NM_015512.5(DNAH1):c.8323-15G>A rs745864753 0.00001
NM_015512.5(DNAH1):c.8394C>T (p.Arg2798=) rs1559558291 0.00001
NM_015512.5(DNAH1):c.8448C>T (p.Ile2816=) rs769821553 0.00001
NM_015512.5(DNAH1):c.8522G>A (p.Arg2841His) rs12638197 0.00001
NM_015512.5(DNAH1):c.8538A>G (p.Val2846=) rs538052520 0.00001
NM_015512.5(DNAH1):c.8691G>A (p.Glu2897=) rs746750164 0.00001
NM_015512.5(DNAH1):c.871+16C>G rs755444441 0.00001
NM_015512.5(DNAH1):c.8710G>A (p.Ala2904Thr) rs376878756 0.00001
NM_015512.5(DNAH1):c.8815C>T (p.Arg2939Cys) rs1453330887 0.00001
NM_015512.5(DNAH1):c.9017A>T (p.Asp3006Val) rs1281186930 0.00001
NM_015512.5(DNAH1):c.9048C>T (p.Ile3016=) rs778190768 0.00001
NM_015512.5(DNAH1):c.9072C>T (p.Ala3024=) rs779601869 0.00001
NM_015512.5(DNAH1):c.9122G>A (p.Arg3041His) rs546452557 0.00001
NM_015512.5(DNAH1):c.9157G>T (p.Val3053Leu) rs781056727 0.00001
NM_015512.5(DNAH1):c.915C>T (p.Val305=) rs780717577 0.00001
NM_015512.5(DNAH1):c.9172-10C>T rs141126342 0.00001
NM_015512.5(DNAH1):c.9258C>T (p.Asp3086=) rs780085331 0.00001
NM_015512.5(DNAH1):c.9320T>C (p.Leu3107Pro) rs1366406019 0.00001
NM_015512.5(DNAH1):c.9353G>A (p.Arg3118Gln) rs376339316 0.00001
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser) rs202033408 0.00001
NM_015512.5(DNAH1):c.9380C>T (p.Ser3127Leu) rs762921161 0.00001
NM_015512.5(DNAH1):c.9403G>A (p.Glu3135Lys) rs780455787 0.00001
NM_015512.5(DNAH1):c.9575C>T (p.Thr3192Met) rs538855437 0.00001
NM_015512.5(DNAH1):c.9639C>T (p.Asn3213=) rs573452233 0.00001
NM_015512.5(DNAH1):c.9741+17G>A rs774979188 0.00001
NM_015512.5(DNAH1):c.9782G>A (p.Arg3261His) rs769112796 0.00001
NM_015512.5(DNAH1):c.984G>A (p.Val328=) rs749937850 0.00001
NM_015512.5(DNAH1):c.9854A>G (p.Glu3285Gly) rs556006237 0.00001
NM_015512.5(DNAH1):c.9871G>A (p.Glu3291Lys) rs773925409 0.00001
NM_015512.5(DNAH1):c.9915G>A (p.Thr3305=) rs751629760 0.00001
NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser) rs1566411552 0.00001
NM_018995.3(MOV10L1):c.2542G>A (p.Gly848Arg) rs1278182234 0.00001
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys) rs773343805 0.00001
NM_020937.4(FANCM):c.1074G>C (p.Glu358Asp) rs1270701063 0.00001
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) rs762845761 0.00001
NM_020937.4(FANCM):c.1184-20C>A rs763504552 0.00001
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys) rs150574630 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491 0.00001
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587 0.00001
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) rs367951081 0.00001
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) rs201076487 0.00001
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met) rs758046969 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) rs757274359 0.00001
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) rs1015238529 0.00001
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) rs763357840 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) rs765227168 0.00001
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) rs764033302 0.00001
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) rs529256568 0.00001
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) rs756870111 0.00001
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr) rs753797551 0.00001
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) rs769468991 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) rs766902093 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu) rs757244993 0.00001
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) rs184770388 0.00001
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) rs776256629 0.00001
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) rs1594798166 0.00001
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) rs775175323 0.00001
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) rs751314954 0.00001
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) rs376798467 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) rs867324948 0.00001
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) rs201839320 0.00001
NM_020937.4(FANCM):c.366C>G (p.Ala122=) rs770311755 0.00001
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr) rs770651053 0.00001
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) rs188061266 0.00001
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) rs749696321 0.00001
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=) rs764040527 0.00001
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) rs751795256 0.00001
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) rs748823532 0.00001
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893 0.00001
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) rs376581960 0.00001
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) rs534229547 0.00001
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) rs774380823 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) rs377410891 0.00001
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser) rs748182153 0.00001
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) rs781618421 0.00001
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) rs1472981713 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His) rs760421586 0.00001
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) rs112745068 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) rs752053357 0.00001
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) rs759165724 0.00001
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) rs1195945183 0.00001
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) rs200095329 0.00001
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) rs374303319 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly) rs1594486115 0.00001
NM_020937.4(FANCM):c.809G>A (p.Arg270His) rs759079934 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe) rs761891998 0.00001
NM_020937.4(FANCM):c.985C>G (p.Leu329Val) rs750311376 0.00001
NM_024867.4(SPEF2):c.1745-2A>G rs1375975527 0.00001
NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter) rs1230916222 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.164+12A>G rs776617179 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp) rs376788209 0.00001
NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter) rs760609580 0.00001
NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter) rs759127010 0.00001
NM_031955.6(SPATA16):c.*157C>T rs540340589 0.00001
NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp) rs774830755 0.00001
NM_031955.6(SPATA16):c.1365G>T (p.Val455=) rs199707743 0.00001
NM_031955.6(SPATA16):c.1503+15T>C rs776183936 0.00001
NM_031955.6(SPATA16):c.1588-2A>G rs757711631 0.00001
NM_031955.6(SPATA16):c.205A>G (p.Ile69Val) rs558144498 0.00001
NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys) rs144595913 0.00001
NM_031955.6(SPATA16):c.490C>T (p.His164Tyr) rs780372927 0.00001
NM_031955.6(SPATA16):c.546T>C (p.Asp182=) rs886058187 0.00001
NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln) rs200456888 0.00001
NM_031955.6(SPATA16):c.828G>A (p.Glu276=) rs776236874 0.00001
NM_033123.4(PLCZ1):c.1154G>A (p.Arg385Gln) rs758890842 0.00001
NM_033123.4(PLCZ1):c.193C>T (p.Arg65Ter) rs745955620 0.00001
NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro) rs1220970427 0.00001
NM_053054.4(CATSPER1):c.1445C>G (p.Ala482Gly) rs202004405 0.00001
NM_053054.4(CATSPER1):c.1567G>A (p.Val523Met) rs928590431 0.00001
NM_053054.4(CATSPER1):c.1950C>T (p.Ile650=) rs531856996 0.00001
NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met) rs373771804 0.00001
NM_053054.4(CATSPER1):c.543C>T (p.Pro181=) rs762457852 0.00001
NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr) rs775284326 0.00001
NM_053054.4(CATSPER1):c.695A>T (p.His232Leu) rs149769183 0.00001
NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val) rs199940038 0.00001
NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu) rs773285320 0.00001
NM_080675.4(SUN5):c.824C>T (p.Thr275Met) rs756459525 0.00001
NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn) rs371195126 0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) rs1035842147 0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) rs369544858 0.00001
NM_152467.5(KLHL10):c.985C>T (p.Arg329Cys) rs782565913 0.00001
NM_172166.4(MSH5):c.537+1G>A rs1809169096 0.00001
NM_172166.4(MSH5):c.964C>T (p.Arg322Cys) rs753519199 0.00001
NM_173651.4(FSIP2):c.7840T>G (p.Ser2614Ala) rs977963766 0.00001
NM_173651.4(FSIP2):c.910del (p.Gln304fs) rs773975635 0.00001
NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys) rs587777206 0.00001
NM_176822.4(NLRP14):c.257A>T (p.Asp86Val) rs199735773 0.00001
46;XY;t(12;14)(q15;q13)mat
46;XY;t(20;22)(q13.3;q11.2)
46;XY;t(7;12)(q21;q21)dn
46;XY;t(7;8)(p12.3;p11.2)dn
DNALI1, IVS3, G-A, -1
GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0
GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0
GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0
GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0
GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0
GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0
GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0
GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0
GRCh37/hg19 Yq11.223(chrY:23231720-23373561)x0
GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0
GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0
GRCh38/hg38 Yq11.221-11.222(chrY:17454742-17459891)
I1014V
IQCN, R1125HIS
IQCN, SER1003PHE
IQCN, THR1305SER
NC_000003.11:g.(?_52356439)_(52366430_?)dup
NC_000003.11:g.(?_52424931)_(52427521_?)del
NC_000003.12:g.113358867_113358876del rs1553756374
NC_000009.11:g.(?_127245037)_(127267690_?)del
NC_000009.11:g.(?_127255289)_(127267690_?)dup
NC_000009.11:g.(?_127262349)_(127267690_?)del
NC_000009.11:g.(?_127262449)_(127265674_?)del
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NC_000012.11:g.63952693_64062354del
NC_000012.12:g.(?_63558913)_(63669201_?)del
NC_000023.10:g.69954448_70045530del
NG_031909.1:g.(12232_26209)_(29173_47048)del
NM_000044.6(AR):c.1005C>G (p.Ser335Arg)
NM_000044.6(AR):c.1141C>T (p.Pro381Ser)
NM_000044.6(AR):c.1223A>G (p.Tyr408Cys)
NM_000044.6(AR):c.1244A>G (p.His415Arg)
NM_000044.6(AR):c.1852C>T (p.Arg618Trp)
NM_000044.6(AR):c.2059T>C (p.Cys687Arg)
NM_000044.6(AR):c.2270A>G (p.Asn757Ser)
NM_000044.6(AR):c.2360G>A (p.Arg787Gln)
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
NM_000044.6(AR):c.2486A>T (p.Asp829Val) rs2147537806
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.277G>A (p.Glu93Lys)
NM_000044.6(AR):c.937A>G (p.Lys313Glu)
NM_001003811.2:c.(-157_-99+1)_(738-1_792+1)del
NM_001003811.2:c.(159+1_160-1)_(692+1_693-1)del
NM_001003811.2:c.(652-1_737+1)_(738-1_792+1)del
NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)
NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer) rs761844995
NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter) rs544826621
NM_001008723.2(CFAP58):c.2052del (p.His685fs) rs775625613
NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter) rs2013131818
NM_001012425.2(C1orf146):c.266del (p.Leu89fs)
NM_001015878.2(AURKC):c.*38G>A rs35582299
NM_001015878.2(AURKC):c.-53A>C rs2087484333
NM_001015878.2(AURKC):c.-80dup rs140452971
NM_001015878.2(AURKC):c.-84C>T rs552823754
NM_001015878.2(AURKC):c.-99dup rs74179426
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001015878.2(AURKC):c.209C>G (p.Ala70Gly) rs2087499420
NM_001015878.2(AURKC):c.351C>T (p.Tyr117=) rs886054646
NM_001015878.2(AURKC):c.436-2A>G rs397515484
NM_001015878.2(AURKC):c.656A>C (p.Lys219Thr) rs2087531534
NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr) rs121908654
NM_001015878.2(AURKC):c.780A>G (p.Leu260=) rs189830354
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro) rs753422559
NM_001017975.6(HFM1):c.[2487_2491del;3490C>T]
NM_001017975.6(HFM1):c.[2562_2563del;4126del]
NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp) rs954702094
NM_001031705.3(CT55):c.465T>A (p.Tyr155Ter)
NM_001031748.4(REDIC1):c.233_234insTT (p.Met78fs)
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)
NM_001031836.3(KCNU1):c.1295+3A>C
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg)
NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs) rs764048407
NM_001039706.3(CFAP69):c.2562C>G (p.Ser854Arg) rs7803620
NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter) rs1554359569
NM_001039706.3(CFAP69):c.860+1G>A rs1554359685
NM_001042697.2(ZSWIM7):c.201+1G>T rs2151625014
NM_001048205.2(REC8):c.860_861del (p.Pro287fs) rs2138790657
NM_001079872.2(CUL4B):c.648G>C (p.Lys216Asn)
NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter) rs2101585615
NM_001097.3(ACR):c.167G>A (p.Trp56Ter)
NM_001101677.2(SOHLH1):c.743C>T (p.Ser248Leu)
NM_001101677.2(SOHLH1):c.760C>T (p.Pro254Ser)
NM_001102592.2(HENMT1):c.400A>T (p.Ile134Leu)
NM_001102592.2(HENMT1):c.456C>G (p.Tyr152Ter) rs2100996308
NM_001135217.2(LRRC23):c.376C>T (p.Arg126Ter)
NM_001135217.2(LRRC23):c.621+1G>A rs1555139812
NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter) rs752801920
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs) rs587777432
NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs) rs2150630821
NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs) rs1484755918
NM_001136046.3(ZMYND15):c.2057+6G>T rs1597285544
NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter) rs2145104416
NM_001136505.2(TERB1):c.289_290del (p.Leu97fs) rs1308550551
NM_001145128.3(AK9):c.2005dup (p.Cys669fs)
NM_001145128.3(AK9):c.2444C>T (p.Pro815Leu)
NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)
NM_001145128.3(AK9):c.4872_4875dup (p.Cys1626fs)
NM_001145304.2(IQCN):c.1061_1062del (p.Tyr354fs)
NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs)
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)
NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs) rs2142076836
NM_001163560.3(MEIOB):c.191A>T (p.Asn64Ile) rs1555472691
NM_001163560.3(MEIOB):c.528+3A>C
NM_001163560.3(MEIOB):c.683-1G>A
NM_001163560.3(MEIOB):c.814C>T (p.Arg272Ter)
NM_001163560.3(MEIOB):c.976G>A (p.Ala326Thr)
NM_001164496.2(CFAP44):c.1303G>T (p.Gly435Ter)
NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter) rs866096259
NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln) rs762760856
NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs) rs1553756824
NM_001164496.2(CFAP44):c.316T>C (p.Ser106Pro) rs749618390
NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter) rs1262272674
NM_001168221.2(C2CD6):c.338A>G (p.His113Arg) rs2105806061
NM_001168221.2(C2CD6):c.5335C>T (p.Arg1779Ter)
NM_001170698.2(SPATA22):c.400C>T (p.Arg134Ter)
NM_001177949.2(SYCP3):c.*239CT[1] rs370467855
NM_001177949.2(SYCP3):c.*243C>G rs1952040058
NM_001177949.2(SYCP3):c.-106A>G rs143456701
NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu) rs1952350079
NM_001177949.2(SYCP3):c.28A>T (p.Arg10Trp) rs1952523498
NM_001177949.2(SYCP3):c.454-13_454-9del rs145003954
NM_001177949.2(SYCP3):c.484C>T (p.Gln162Ter)
NM_001177949.2(SYCP3):c.524_527del (p.Ile175fs) rs749759423
NM_001177949.2(SYCP3):c.553-21_553-18del rs587776620
NM_001177949.2(SYCP3):c.643del (p.Ile215fs)
NM_001206927.2(DNAH8):c.11024T>C (p.Ile3675Thr)
NM_001206927.2(DNAH8):c.11422C>T (p.Gln3808Ter)
NM_001206927.2(DNAH8):c.12601A>G (p.Thr4201Ala)
NM_001206927.2(DNAH8):c.13082C>T (p.Pro4361Leu)
NM_001206927.2(DNAH8):c.13546A>G (p.Asn4516Asp)
NM_001206927.2(DNAH8):c.1759G>C (p.Glu587Gln)
NM_001206927.2(DNAH8):c.2863G>A (p.Gly955Ser)
NM_001206927.2(DNAH8):c.3006A>T (p.Lys1002Asn) rs1268449600
NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu) rs1772998152
NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs) rs1762922751
NM_001206927.2(DNAH8):c.5768A>T (p.His1923Leu)
NM_001206927.2(DNAH8):c.665A>G (p.Tyr222Cys) rs753974456
NM_001206927.2(DNAH8):c.6689A>G (p.Lys2230Arg) rs1563044711
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs) rs752692263
NM_001206927.2(DNAH8):c.7480-1G>A
NM_001206927.2(DNAH8):c.8747+4C>T rs201261721
NM_001242617.2(NXT2):c.103G>T (p.Ala35Ser)
NM_001242617.2(NXT2):c.189dup (p.Asp64Ter)
NM_001271862.2(PNLDC1):c.1058A>G (p.Tyr353Cys)
NM_001271862.2(PNLDC1):c.1257+2T>C
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly) rs1254456989
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser) rs2115028353
NM_001271862.2(PNLDC1):c.640-2A>T rs763048743
NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp) rs1781557432
NM_001271862.2(PNLDC1):c.790G>T (p.Val264Leu)
NM_001277115.2(DNAH11):c.5805G>C (p.Leu1935Phe) rs1783424940
NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)
NM_001282717.2(STAG3):c.1293A>C (p.Pro431=) rs3735241
NM_001282717.2(STAG3):c.1573+41C>G rs2272345
NM_001282717.2(STAG3):c.1936dup (p.Ala646fs) rs1251996684
NM_001282717.2(STAG3):c.2394+1G>A rs2117333857
NM_001282717.2(STAG3):c.962G>A (p.Arg321His) rs1031011371
NM_001286574.2(ARMC12):c.632G>A (p.Arg211Gln)
NM_001286574.2(ARMC12):c.635T>C (p.Leu212Pro)
NM_001286574.2(ARMC12):c.686G>A (p.Cys229Tyr)
NM_001304548.2(CFAP47):c.6709G>A (p.Val2237Ile)
NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn) rs1940460729
NM_001304548.2(CFAP47):c.8205C>A (p.Phe2735Leu)
NM_001304548.2(CFAP47):c.[1337C>T;706G>A]
NM_001321527.2(GPAT2):c.1130A>G (p.His377Arg)
NM_001321527.2(GPAT2):c.1156-1G>A
NM_001321527.2(GPAT2):c.1388C>T (p.Thr463Met)
NM_001321527.2(GPAT2):c.146G>A (p.Arg49His)
NM_001321527.2(GPAT2):c.1879C>T (p.Arg627Trp)
NM_001321527.2(GPAT2):c.1954C>T (p.Arg652Ter)
NM_001321739.2(M1AP):c.1073_1074+10del
NM_001321739.2(M1AP):c.1435-1G>A rs1677697539
NM_001321739.2(M1AP):c.344C>T (p.Ala115Val)
NM_001321739.2(M1AP):c.595+3A>G
NM_001347886.2(DNAH3):c.10122G>A (p.Trp3374Ter)
NM_001347886.2(DNAH3):c.10301G>A (p.Arg3434Gln)
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.6835T>C (p.Phe2279Leu)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_001347886.2(DNAH3):c.8833C>T (p.Arg2945Cys)
NM_001350162.2(TEX15):c.1624A>T (p.Ile542Phe)
NM_001350162.2(TEX15):c.1774A>G (p.Ile592Val)
NM_001350162.2(TEX15):c.2134C>T (p.Gln712Ter)
NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu)
NM_001350162.2(TEX15):c.2549G>T (p.Trp850Leu)
NM_001350162.2(TEX15):c.2672A>T (p.His891Leu)
NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) rs864309485
NM_001350162.2(TEX15):c.3323T>C (p.Leu1108Pro) rs1807627307
NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter) rs1554492164
NM_001350162.2(TEX15):c.3953T>C (p.Leu1318Ser)
NM_001350162.2(TEX15):c.3958C>T (p.Arg1320Ter)
NM_001350162.2(TEX15):c.4119C>A (p.Ser1373Arg)
NM_001350162.2(TEX15):c.4189del (p.Ser1397fs) rs1554491783
NM_001350162.2(TEX15):c.4944C>G (p.Asp1648Glu) rs117362953
NM_001350162.2(TEX15):c.5315G>A (p.Cys1772Tyr)
NM_001350162.2(TEX15):c.5590G>C (p.Glu1864Gln)
NM_001350162.2(TEX15):c.6118T>G (p.Cys2040Gly)
NM_001350162.2(TEX15):c.6127G>A (p.Glu2043Lys)
NM_001350162.2(TEX15):c.6823G>A (p.Ala2275Thr)
NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs) rs550195743
NM_001350162.2(TEX15):c.6869_6872del (p.Lys2290fs)
NM_001350162.2(TEX15):c.6874_6877del (p.Ser2292fs)
NM_001350162.2(TEX15):c.688-6T>C
NM_001350162.2(TEX15):c.7414C>T (p.Arg2472Ter)
NM_001350162.2(TEX15):c.8164-17G>A
NM_001350162.2(TEX15):c.8806T>C (p.Ser2936Pro)
NM_001350162.2(TEX15):c.933C>G (p.Phe311Leu)
NM_001352389.2(STK33):c.1235del (p.Thr412fs)
NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs) rs752428198
NM_001366102.1(TDRD12):c.2419C>T (p.Arg807Cys)
NM_001366102.1(TDRD12):c.287A>C (p.Asp96Ala)
NM_001366102.1(TDRD12):c.3157del (p.Leu1053fs)
NM_001366102.1(TDRD12):c.593A>G (p.Asn198Ser)
NM_001366102.1(TDRD12):c.963+1G>T
NM_001366102.1(TDRD12):c.986G>A (p.Trp329Ter)
NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter) rs780431020
NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer) rs1559708295
NM_001366900.1(TTC21A):c.3450+2del
NM_001366900.1(TTC21A):c.716+1G>A rs1559674534
NM_001367801.1(CFAP70):c.1723-1G>T rs1589391313
NM_001369775.2(KLK14):c.652G>A (p.Val218Met) rs201317571
NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr) rs1566103463
NM_001372106.1(DNAH10):c.11893_11896del (p.Asp3965fs)
NM_001372106.1(DNAH10):c.12589del (p.Ser4197fs) rs2137700684
NM_001372106.1(DNAH10):c.3904C>T (p.Arg1302Ter)
NM_001372106.1(DNAH10):c.4942T>C (p.Cys1648Arg)
NM_001372106.1(DNAH10):c.7331C>T (p.Ala2444Val)
NM_001372106.1(DNAH10):c.7614dup (p.Glu2539fs) rs2136959456
NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs)
NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter)
NM_001378211.1(SHOC1):c.1543del (p.Ser515fs)
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs) rs2131436525
NM_001378211.1(SHOC1):c.2131+2T>C
NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs) rs777595871
NM_001378211.1(SHOC1):c.989del (p.Leu330fs) rs2131520030
NM_001379451.1(BCORL1):c.2615T>G (p.Val872Gly)
NM_001379451.1(BCORL1):c.4171G>A (p.Gly1391Arg)
NM_001388453.1(QRICH2):c.4306G>A (p.Val1436Met)
NM_001388453.1(QRICH2):c.5112C>G (p.Tyr1704Ter) rs770382841
NM_001388453.1(QRICH2):c.690G>A (p.Trp230Ter) rs1567790522
NM_001395205.1(TDRD1):c.887C>A (p.Ser296Tyr)
NM_002440.4(MSH4):c.1540+8C>A
NM_002440.4(MSH4):c.1552C>T (p.Gln518Ter) rs2100570734
NM_002440.4(MSH4):c.1569T>C (p.Tyr523=)
NM_002440.4(MSH4):c.1575A>T (p.Leu525=)
NM_002440.4(MSH4):c.1782-11_1782-10insAT
NM_002440.4(MSH4):c.1950G>A (p.Trp650Ter) rs149910287
NM_002440.4(MSH4):c.2179del (p.Asp727fs) rs2100581757
NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs) rs1386320504
NM_002440.4(MSH4):c.289G>A (p.Ala97Thr)
NM_002440.4(MSH4):c.805_812del (p.Val269fs) rs2100513927
NM_002536.4(TBC1D25):c.4609C>T rs1602125411
NM_002893.4(RBBP7):c.1200dup (p.Trp401fs)
NM_003462.5(DNALI1):c.666_669del (p.Ser222fs)
NM_003602.5(FKBP6):c.469-2A>T
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
NM_003602.5(FKBP6):c.589-2A>G
NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)
NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)
NM_004654.4(USP9Y):c.1256G>A (p.Arg419His)
NM_004654.4(USP9Y):c.1774del (p.Gln592fs)
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
NM_004654.4(USP9Y):c.3842T>C (p.Val1281Ala)
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)
NM_004654.4(USP9Y):c.6845dup (p.Arg2283fs)
NM_004654.4(USP9Y):c.773+3_773+6del rs778145751
NM_004764.5(PIWIL1):c.688C>T (p.Arg230Ter)
NM_004798.4(KIF3B):c.1032A>T (p.Pro344=) rs2047796277
NM_004959.4(NR5A1):c.[368G>C;386C>T]
NM_004959.5(NR5A1):c.*1400T>C rs10283445
NM_004959.5(NR5A1):c.1008G>C (p.Val336=)
NM_004959.5(NR5A1):c.102+9C>T
NM_004959.5(NR5A1):c.102G>C (p.Lys34Asn) rs2131289952
NM_004959.5(NR5A1):c.103-3C>A
NM_004959.5(NR5A1):c.105del (p.Phe36fs)
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
NM_004959.5(NR5A1):c.1065_1138+158del
NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)
NM_004959.5(NR5A1):c.1099G>C (p.Glu367Gln)
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.1139-1G>T rs2131269372
NM_004959.5(NR5A1):c.1139-20C>T
NM_004959.5(NR5A1):c.1139-30_1139-20del
NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)
NM_004959.5(NR5A1):c.1209C>T (p.Asp403=)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.1223_1224dup (p.Tyr409fs)
NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) rs1564146922
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.1293G>T (p.Met431Ile)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
NM_004959.5(NR5A1):c.1304_1309del (p.Glu435_Leu437delinsVal)
NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) rs1832149850
NM_004959.5(NR5A1):c.1308C>G (p.Tyr436Ter) rs2131269186
NM_004959.5(NR5A1):c.1362A>G (p.Glu454=) rs2131269144
NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)
NM_004959.5(NR5A1):c.185G>C (p.Arg62Pro) rs1832493571
NM_004959.5(NR5A1):c.203G>A (p.Cys68Tyr)
NM_004959.5(NR5A1):c.205C>G (p.Arg69Gly)
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys) rs2131289737
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) rs1832493257
NM_004959.5(NR5A1):c.228G>A (p.Val76=) rs2131289706
NM_004959.5(NR5A1):c.231del (p.Met78fs) rs2131289701
NM_004959.5(NR5A1):c.232_244del (p.Met78fs) rs2131289687
NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_004959.5(NR5A1):c.241G>A (p.Glu81Lys)
NM_004959.5(NR5A1):c.244+4del
NM_004959.5(NR5A1):c.244+9C>T
NM_004959.5(NR5A1):c.244G>A (p.Ala82Thr)
NM_004959.5(NR5A1):c.244G>T (p.Ala82Ser)
NM_004959.5(NR5A1):c.245-2A>G
NM_004959.5(NR5A1):c.247G>A (p.Val83Met)
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.266G>A (p.Arg89Lys)
NM_004959.5(NR5A1):c.269G>C (p.Gly90Ala)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>C (p.Arg92Pro)
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_004959.5(NR5A1):c.33G>A (p.Glu11=)
NM_004959.5(NR5A1):c.352T>A (p.Phe118Ile)
NM_004959.5(NR5A1):c.377T>A (p.Met126Lys)
NM_004959.5(NR5A1):c.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.437_438delinsCA (p.Gly146Ala)
NM_004959.5(NR5A1):c.523G>A (p.Gly175Ser)
NM_004959.5(NR5A1):c.52_53delinsTT (p.Asp18Phe)
NM_004959.5(NR5A1):c.572del (p.Arg191fs) rs2131286914
NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004959.5(NR5A1):c.598C>A (p.Pro200Thr)
NM_004959.5(NR5A1):c.601del (p.Tyr201fs)
NM_004959.5(NR5A1):c.608G>T (p.Ser203Ile)
NM_004959.5(NR5A1):c.614C>G (p.Pro205Arg)
NM_004959.5(NR5A1):c.630G>A (p.Pro210=)
NM_004959.5(NR5A1):c.632A>G (p.Tyr211Cys)
NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)
NM_004959.5(NR5A1):c.68A>G (p.Tyr23Cys) rs2131289985
NM_004959.5(NR5A1):c.705G>A (p.Pro235=)
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.727C>T (p.Arg243Cys)
NM_004959.5(NR5A1):c.754A>G (p.Thr252Ala)
NM_004959.5(NR5A1):c.75C>G (p.Tyr25Ter) rs2131289982
NM_004959.5(NR5A1):c.776C>T (p.Pro259Leu)
NM_004959.5(NR5A1):c.780G>A (p.Ala260=)
NM_004959.5(NR5A1):c.785_791del (p.Phe262fs)
NM_004959.5(NR5A1):c.786C>G (p.Phe262Leu)
NM_004959.5(NR5A1):c.795del (p.Cys266fs)
NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)
NM_004959.5(NR5A1):c.808G>A (p.Asp270Asn)
NM_004959.5(NR5A1):c.86C>T (p.Thr29Met) rs2131289973
NM_004959.5(NR5A1):c.870+1G>A
NM_004959.5(NR5A1):c.871-17G>A
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.871-21_871-20delinsTT
NM_004959.5(NR5A1):c.871-4_871-1del
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) rs1564150329
NM_004959.5(NR5A1):c.895_897del (p.Gln299del) rs2131279929
NM_004959.5(NR5A1):c.908G>A (p.Ser303Asn)
NM_004959.5(NR5A1):c.924C>T (p.Phe308=)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004959.5(NR5A1):c.942G>C (p.Gln314His) rs201103618
NM_004959.5(NR5A1):c.945C>A (p.Val315=)
NM_004959.5(NR5A1):c.962G>T (p.Gly321Val)
NM_004959.5(NR5A1):c.981C>A (p.Thr327=)
NM_004959.5(NR5A1):c.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.990+14C>T
NM_004959.5(NR5A1):c.990+20C>T
NM_004959.5(NR5A1):c.991-17G>A
NM_004959.5(NR5A1):c.991-18C>A
NM_004959.5(NR5A1):c.991-18C>T
NM_005316.4(GTF2H1):c.1393T>C (p.Tyr465His)
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.41T>C (p.Leu14Pro) rs757140620
NM_005431.2(XRCC2):c.563G>T (p.Arg188Leu)
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.825T>G (p.Ser275Arg) rs770438650
NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)
NM_005635.4(SSX1):c.*4+1G>A
NM_005635.4(SSX1):c.164A>G (p.Tyr55Cys)
NM_005635.4(SSX1):c.185_186del (p.Gly62fs)
NM_005640.3(TAF4B):c.1831C>T (p.Arg611Ter) rs587777427
NM_005893.3(CCIN):c.125A>T (p.His42Leu)
NM_005893.3(CCIN):c.1294C>T (p.Arg432Trp)
NM_005893.3(CCIN):c.1341C>A (p.Cys447Ter)
NM_005893.3(CCIN):c.230T>C (p.Leu77Pro)
NM_006201.5(CDK16):c.43C>T (p.Leu15Phe)
NM_006201.5(CDK16):c.47G>A (p.Arg16Gln)
NM_006341.4(MAD2L2):c.103G>A (p.Glu35Lys)
NM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg)
NM_006687.4(ACTL7A):c.1204G>A (p.Gly402Ser)
NM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter)
NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)
NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)
NM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala)
NM_007009.3(ZPBP):c.557A>G (p.Tyr186Cys)
NM_007009.3(ZPBP):c.931C>T (p.Gln311Ter) rs2128782038
NM_007068.4(DMC1):c.364A>G (p.Thr122Ala) rs2145963298
NM_007068.4(DMC1):c.860C>A (p.Pro287His) rs2145771075
NM_014258.4(SYCP2):c.1593_1594del (p.Asn531fs)
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs) rs1600877766
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs) rs1600840291
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs) rs753462162
NM_014258.4(SYCP2):c.513+1G>T
NM_015072.5(TTLL5):c.989T>A (p.Leu330Gln) rs765872484
NM_015512.5(DNAH1):c.10002del (p.Glu3336fs) rs1704386838
NM_015512.5(DNAH1):c.10008G>A (p.Glu3336=)
NM_015512.5(DNAH1):c.10011C>A (p.Ile3337=)
NM_015512.5(DNAH1):c.1003C>G (p.Pro335Ala) rs1553628078
NM_015512.5(DNAH1):c.1003C>T (p.Pro335Ser) rs1553628078
NM_015512.5(DNAH1):c.10052+10C>A
NM_015512.5(DNAH1):c.10052+13T>G
NM_015512.5(DNAH1):c.10053-10C>A
NM_015512.5(DNAH1):c.10053-14C>G
NM_015512.5(DNAH1):c.10053-4G>T
NM_015512.5(DNAH1):c.10083A>G (p.Val3361=)
NM_015512.5(DNAH1):c.10086G>A (p.Val3362=)
NM_015512.5(DNAH1):c.10096C>T (p.Arg3366Ter)
NM_015512.5(DNAH1):c.10101C>T (p.Pro3367=)
NM_015512.5(DNAH1):c.10108G>A (p.Glu3370Lys)
NM_015512.5(DNAH1):c.10126C>T (p.Leu3376=)
NM_015512.5(DNAH1):c.10161G>A (p.Leu3387=)
NM_015512.5(DNAH1):c.10172A>C (p.Glu3391Ala) rs767720513
NM_015512.5(DNAH1):c.1017A>T (p.Ala339=)
NM_015512.5(DNAH1):c.10182C>T (p.Ile3394=)
NM_015512.5(DNAH1):c.10191G>T (p.Arg3397=)
NM_015512.5(DNAH1):c.10203C>T (p.Ser3401=)
NM_015512.5(DNAH1):c.10208G>T (p.Gly3403Val) rs750043127
NM_015512.5(DNAH1):c.10279-18C>G
NM_015512.5(DNAH1):c.10279-19C>G
NM_015512.5(DNAH1):c.10323G>C (p.Leu3441=)
NM_015512.5(DNAH1):c.10325C>T (p.Thr3442Met)
NM_015512.5(DNAH1):c.10326G>A (p.Thr3442=)
NM_015512.5(DNAH1):c.10328G>A (p.Arg3443His)
NM_015512.5(DNAH1):c.1033+14C>G
NM_015512.5(DNAH1):c.1033+15C>T
NM_015512.5(DNAH1):c.1033+16G>A
NM_015512.5(DNAH1):c.1033+19G>T
NM_015512.5(DNAH1):c.1033+20C>T
NM_015512.5(DNAH1):c.1033+2T>C
NM_015512.5(DNAH1):c.10332G>A (p.Met3444Ile) rs1704457226
NM_015512.5(DNAH1):c.1034-12C>T
NM_015512.5(DNAH1):c.1034-18C>T
NM_015512.5(DNAH1):c.1034-2A>G
NM_015512.5(DNAH1):c.10355G>A (p.Arg3452His)
NM_015512.5(DNAH1):c.10391C>T (p.Ala3464Val)
NM_015512.5(DNAH1):c.10394A>G (p.Asn3465Ser) rs375477856
NM_015512.5(DNAH1):c.10394A>T (p.Asn3465Ile)
NM_015512.5(DNAH1):c.10396G>A (p.Val3466Met)
NM_015512.5(DNAH1):c.10407G>C (p.Met3469Ile)
NM_015512.5(DNAH1):c.10449G>A (p.Ser3483=) rs780851318
NM_015512.5(DNAH1):c.10455C>T (p.Ile3485=)
NM_015512.5(DNAH1):c.1045C>T (p.Leu349Phe)
NM_015512.5(DNAH1):c.10464A>T (p.Ser3488=) rs2153225630
NM_015512.5(DNAH1):c.10468_10471del (p.Arg3490fs) rs759646845
NM_015512.5(DNAH1):c.10474+1G>A
NM_015512.5(DNAH1):c.10474+4G>T
NM_015512.5(DNAH1):c.10475-2A>G
NM_015512.5(DNAH1):c.10475-4A>G
NM_015512.5(DNAH1):c.10475-9A>G rs2153225641
NM_015512.5(DNAH1):c.10501A>G (p.Ile3501Val)
NM_015512.5(DNAH1):c.10505A>T (p.Asn3502Ile)
NM_015512.5(DNAH1):c.10536C>T (p.Asn3512=)
NM_015512.5(DNAH1):c.10543C>T (p.Arg3515Cys)
NM_015512.5(DNAH1):c.10572G>A (p.Met3524Ile)
NM_015512.5(DNAH1):c.10596C>A (p.Arg3532=)
NM_015512.5(DNAH1):c.10608C>G (p.Asn3536Lys)
NM_015512.5(DNAH1):c.10608C>T (p.Asn3536=) rs751887427
NM_015512.5(DNAH1):c.10609G>A (p.Glu3537Lys)
NM_015512.5(DNAH1):c.10611G>A (p.Glu3537=) rs1471423376
NM_015512.5(DNAH1):c.10614C>A (p.Gly3538=)
NM_015512.5(DNAH1):c.10626+18C>G
NM_015512.5(DNAH1):c.10627-10C>A
NM_015512.5(DNAH1):c.10627-10C>T rs1411379067
NM_015512.5(DNAH1):c.10627-13T>C
NM_015512.5(DNAH1):c.10627-15C>G
NM_015512.5(DNAH1):c.10627-3C>T
NM_015512.5(DNAH1):c.10628G>A (p.Ser3543Asn)
NM_015512.5(DNAH1):c.10642C>A (p.Leu3548Ile)
NM_015512.5(DNAH1):c.10644C>A (p.Leu3548=)
NM_015512.5(DNAH1):c.10652G>C (p.Gly3551Ala) rs1407846110
NM_015512.5(DNAH1):c.10665G>A (p.Ser3555=)
NM_015512.5(DNAH1):c.10682C>T (p.Pro3561Leu)
NM_015512.5(DNAH1):c.10692C>T (p.Asp3564=)
NM_015512.5(DNAH1):c.10705C>T (p.Arg3569Trp)
NM_015512.5(DNAH1):c.10706G>C (p.Arg3569Pro)
NM_015512.5(DNAH1):c.10730T>C (p.Leu3577Pro) rs1704533906
NM_015512.5(DNAH1):c.10746C>A (p.Thr3582=)
NM_015512.5(DNAH1):c.10746C>T (p.Thr3582=) rs763478584
NM_015512.5(DNAH1):c.10755C>T (p.Ser3585=)
NM_015512.5(DNAH1):c.10757_10759del (p.Phe3586del)
NM_015512.5(DNAH1):c.10759T>A (p.Ser3587Thr)
NM_015512.5(DNAH1):c.1077C>T (p.Ile359=)
NM_015512.5(DNAH1):c.10782C>T (p.Leu3594=)
NM_015512.5(DNAH1):c.10784C>T (p.Ser3595Leu) rs1704536648
NM_015512.5(DNAH1):c.10823+2T>C
NM_015512.5(DNAH1):c.10823G>A (p.Arg3608Gln) rs775908803
NM_015512.5(DNAH1):c.10824G>A (p.Arg3608=)
NM_015512.5(DNAH1):c.10842C>T (p.Ile3614=)
NM_015512.5(DNAH1):c.10866C>T (p.Phe3622=)
NM_015512.5(DNAH1):c.10886G>A (p.Arg3629His)
NM_015512.5(DNAH1):c.1088T>A (p.Phe363Tyr)
NM_015512.5(DNAH1):c.10894C>T (p.Arg3632Cys)
NM_015512.5(DNAH1):c.10907T>C (p.Val3636Ala)
NM_015512.5(DNAH1):c.10919T>C (p.Met3640Thr) rs1578204270
NM_015512.5(DNAH1):c.1092C>G (p.Cys364Trp) rs768178265
NM_015512.5(DNAH1):c.10936A>G (p.Thr3646Ala)
NM_015512.5(DNAH1):c.1093G>A (p.Ala365Thr) rs374001771
NM_015512.5(DNAH1):c.10951C>T (p.Arg3651Cys)
NM_015512.5(DNAH1):c.1095T>C (p.Ala365=)
NM_015512.5(DNAH1):c.10968+10G>A
NM_015512.5(DNAH1):c.10968+19G>T
NM_015512.5(DNAH1):c.10969-13C>T
NM_015512.5(DNAH1):c.10969-20A>G
NM_015512.5(DNAH1):c.10969-2A>C
NM_015512.5(DNAH1):c.10979del (p.Leu3660fs)
NM_015512.5(DNAH1):c.11007C>T (p.Ser3669=)
NM_015512.5(DNAH1):c.11020_11022del (p.Ile3674del)
NM_015512.5(DNAH1):c.11035C>G (p.Pro3679Ala) rs771205798
NM_015512.5(DNAH1):c.11037C>G (p.Pro3679=) rs549953056
NM_015512.5(DNAH1):c.11073C>T (p.Ala3691=)
NM_015512.5(DNAH1):c.11078A>C (p.Glu3693Ala)
NM_015512.5(DNAH1):c.11115G>A (p.Leu3705=)
NM_015512.5(DNAH1):c.11120A>T (p.Gln3707Leu) rs1338847535
NM_015512.5(DNAH1):c.11127+13C>A
NM_015512.5(DNAH1):c.11128-13C>T
NM_015512.5(DNAH1):c.11128-9C>T rs1559573855
NM_015512.5(DNAH1):c.11135G>A (p.Arg3712Gln)
NM_015512.5(DNAH1):c.1114G>A (p.Ala372Thr)
NM_015512.5(DNAH1):c.11162T>C (p.Ile3721Thr)
NM_015512.5(DNAH1):c.11169G>A (p.Arg3723=) rs763418556
NM_015512.5(DNAH1):c.11175A>G (p.Lys3725=)
NM_015512.5(DNAH1):c.11234T>A (p.Leu3745His)
NM_015512.5(DNAH1):c.11253C>A (p.Pro3751=)
NM_015512.5(DNAH1):c.11253C>T (p.Pro3751=)
NM_015512.5(DNAH1):c.11256C>A (p.Asp3752Glu)
NM_015512.5(DNAH1):c.11259+10C>T
NM_015512.5(DNAH1):c.11259+11C>T
NM_015512.5(DNAH1):c.11259+19C>T
NM_015512.5(DNAH1):c.11260-19G>A
NM_015512.5(DNAH1):c.11260-19G>C
NM_015512.5(DNAH1):c.11284C>T (p.Leu3762Phe) rs1578206910
NM_015512.5(DNAH1):c.11286C>T (p.Leu3762=)
NM_015512.5(DNAH1):c.11331C>T (p.Asn3777=)
NM_015512.5(DNAH1):c.11355G>A (p.Pro3785=)
NM_015512.5(DNAH1):c.11359C>T (p.Arg3787Cys)
NM_015512.5(DNAH1):c.11364T>C (p.Gly3788=)
NM_015512.5(DNAH1):c.11380C>T (p.Leu3794=)
NM_015512.5(DNAH1):c.11382_11383delinsAT (p.Lys3795Ter)
NM_015512.5(DNAH1):c.11391T>C (p.Tyr3797=)
NM_015512.5(DNAH1):c.11418C>T (p.Asn3806=)
NM_015512.5(DNAH1):c.11420C>T (p.Ser3807Phe)
NM_015512.5(DNAH1):c.11424C>T (p.Cys3808=) rs1292559100
NM_015512.5(DNAH1):c.11428A>G (p.Lys3810Glu)
NM_015512.5(DNAH1):c.11430+14G>A
NM_015512.5(DNAH1):c.11431-10C>T
NM_015512.5(DNAH1):c.11431-14C>G
NM_015512.5(DNAH1):c.11431-2A>G rs772998828
NM_015512.5(DNAH1):c.11431-6C>G
NM_015512.5(DNAH1):c.11436G>T (p.Met3812Ile)
NM_015512.5(DNAH1):c.1144C>T (p.Arg382Cys)
NM_015512.5(DNAH1):c.11473del (p.His3825fs)
NM_015512.5(DNAH1):c.11487G>C (p.Leu3829=)
NM_015512.5(DNAH1):c.11491C>T (p.Arg3831Cys)
NM_015512.5(DNAH1):c.11492G>A (p.Arg3831His)
NM_015512.5(DNAH1):c.11494C>A (p.Arg3832Ser) rs200962458
NM_015512.5(DNAH1):c.11494C>T (p.Arg3832Cys) rs200962458
NM_015512.5(DNAH1):c.11495= (p.Arg3832=) rs1704644099
NM_015512.5(DNAH1):c.11495G>A (p.Arg3832His) rs365048
NM_015512.5(DNAH1):c.11505G>A (p.Gly3835=) rs2153225777
NM_015512.5(DNAH1):c.11526C>T (p.Pro3842=)
NM_015512.5(DNAH1):c.11551C>T (p.Arg3851Cys)
NM_015512.5(DNAH1):c.11557T>G (p.Cys3853Gly)
NM_015512.5(DNAH1):c.11558G>C (p.Cys3853Ser) rs767788052
NM_015512.5(DNAH1):c.1155G>A (p.Thr385=)
NM_015512.5(DNAH1):c.1155G>C (p.Thr385=)
NM_015512.5(DNAH1):c.11572A>G (p.Lys3858Glu)
NM_015512.5(DNAH1):c.11573A>G (p.Lys3858Arg) rs1578207734
NM_015512.5(DNAH1):c.11583G>A (p.Leu3861=)
NM_015512.5(DNAH1):c.11595T>C (p.Asp3865=)
NM_015512.5(DNAH1):c.11610+17C>A
NM_015512.5(DNAH1):c.11611-18CACC[4]
NM_015512.5(DNAH1):c.11611-4A>G
NM_015512.5(DNAH1):c.11611-6C>A
NM_015512.5(DNAH1):c.1162C>A (p.Leu388Met) rs1578085496
NM_015512.5(DNAH1):c.11644G>A (p.Gly3882Arg)
NM_015512.5(DNAH1):c.11650C>T (p.Arg3884Cys)
NM_015512.5(DNAH1):c.11651G>A (p.Arg3884His)
NM_015512.5(DNAH1):c.11671C>G (p.Arg3891Gly) rs774152723
NM_015512.5(DNAH1):c.11672G>A (p.Arg3891Gln)
NM_015512.5(DNAH1):c.11675_11676delinsCT (p.Arg3892Pro) rs1559576250
NM_015512.5(DNAH1):c.1167G>A (p.Leu389=) rs2153223261
NM_015512.5(DNAH1):c.11685del (p.Met3895fs)
NM_015512.5(DNAH1):c.11700C>T (p.Asp3900=)
NM_015512.5(DNAH1):c.11709C>T (p.Asn3903=) rs780516984
NM_015512.5(DNAH1):c.11715C>T (p.Asp3905=)
NM_015512.5(DNAH1):c.11742C>T (p.Ser3914=)
NM_015512.5(DNAH1):c.11754C>T (p.Ile3918=)
NM_015512.5(DNAH1):c.11768C>T (p.Pro3923Leu)
NM_015512.5(DNAH1):c.11778C>T (p.Tyr3926=) rs1214030380
NM_015512.5(DNAH1):c.11779G>A (p.Asp3927Asn)
NM_015512.5(DNAH1):c.11781C>T (p.Asp3927=)
NM_015512.5(DNAH1):c.11787+19G>C
NM_015512.5(DNAH1):c.11787+8C>T
NM_015512.5(DNAH1):c.11788-12C>T
NM_015512.5(DNAH1):c.11788-13T>C
NM_015512.5(DNAH1):c.11788-18T>C
NM_015512.5(DNAH1):c.11788-1G>A rs1131692234
NM_015512.5(DNAH1):c.11798C>T (p.Ser3933Phe)
NM_015512.5(DNAH1):c.117G>A (p.Gly39=) rs559216813
NM_015512.5(DNAH1):c.117G>C (p.Gly39=) rs559216813
NM_015512.5(DNAH1):c.11845C>T (p.Leu3949=) rs1272054267
NM_015512.5(DNAH1):c.11855A>G (p.Asn3952Ser)
NM_015512.5(DNAH1):c.11856T>C (p.Asn3952=)
NM_015512.5(DNAH1):c.11863A>G (p.Ile3955Val) rs2153225833
NM_015512.5(DNAH1):c.11880C>T (p.Asn3960=)
NM_015512.5(DNAH1):c.11907C>A (p.Ile3969=)
NM_015512.5(DNAH1):c.11913G>A (p.Gln3971=)
NM_015512.5(DNAH1):c.11925A>G (p.Lys3975=)
NM_015512.5(DNAH1):c.11958+19dup
NM_015512.5(DNAH1):c.11958+4G>T
NM_015512.5(DNAH1):c.11958+5G>A
NM_015512.5(DNAH1):c.11959-10G>T
NM_015512.5(DNAH1):c.11959-12T>C
NM_015512.5(DNAH1):c.11959-6C>G
NM_015512.5(DNAH1):c.11959-7C>T rs767603395
NM_015512.5(DNAH1):c.11961A>C (p.Ile3987=)
NM_015512.5(DNAH1):c.12005C>T (p.Pro4002Leu)
NM_015512.5(DNAH1):c.12007A>G (p.Ile4003Val)
NM_015512.5(DNAH1):c.12021G>C (p.Trp4007Cys) rs1419113342
NM_015512.5(DNAH1):c.12029_12030insGT (p.Lys4011fs)
NM_015512.5(DNAH1):c.12030C>G (p.Ala4010=)
NM_015512.5(DNAH1):c.12036C>T (p.Tyr4012=)
NM_015512.5(DNAH1):c.1203C>T (p.Asp401=)
NM_015512.5(DNAH1):c.12044T>C (p.Leu4015Pro)
NM_015512.5(DNAH1):c.1204G>A (p.Gly402Ser)
NM_015512.5(DNAH1):c.12070dup (p.Leu4024fs)
NM_015512.5(DNAH1):c.12089+11C>T
NM_015512.5(DNAH1):c.12089+12G>A
NM_015512.5(DNAH1):c.12089+12G>T rs768259974
NM_015512.5(DNAH1):c.12089+18C>T
NM_015512.5(DNAH1):c.12089+19C>A
NM_015512.5(DNAH1):c.12089+8C>T
NM_015512.5(DNAH1):c.12090-10G>A rs1553643566
NM_015512.5(DNAH1):c.12090-19C>T
NM_015512.5(DNAH1):c.12118C>A (p.Gln4040Lys)
NM_015512.5(DNAH1):c.12124C>T (p.Leu4042=)
NM_015512.5(DNAH1):c.12148A>C (p.Lys4050Gln)
NM_015512.5(DNAH1):c.12151G>T (p.Gly4051Trp) rs2153225875
NM_015512.5(DNAH1):c.12201CAA[1] (p.Asn4069del) rs772396187
NM_015512.5(DNAH1):c.12245C>T (p.Ser4082Leu)
NM_015512.5(DNAH1):c.12249C>A (p.Leu4083=) rs751226564
NM_015512.5(DNAH1):c.12249C>T (p.Leu4083=)
NM_015512.5(DNAH1):c.12261A>G (p.Ser4087=) rs565200964
NM_015512.5(DNAH1):c.12264A>T (p.Ser4088=)
NM_015512.5(DNAH1):c.12270C>G (p.Val4090=)
NM_015512.5(DNAH1):c.12280C>T (p.Leu4094=)
NM_015512.5(DNAH1):c.12282G>C (p.Leu4094=)
NM_015512.5(DNAH1):c.12301C>T (p.Gln4101Ter)
NM_015512.5(DNAH1):c.12322A>G (p.Ile4108Val)
NM_015512.5(DNAH1):c.12333C>A (p.Val4111=)
NM_015512.5(DNAH1):c.12348A>C (p.Gly4116=)
NM_015512.5(DNAH1):c.12349T>C (p.Phe4117Leu)
NM_015512.5(DNAH1):c.12355_12356delinsCC (p.Phe4119Pro) rs1704782639
NM_015512.5(DNAH1):c.12380C>T (p.Thr4127Ile) rs548795920
NM_015512.5(DNAH1):c.12390T>C (p.Asn4130=)
NM_015512.5(DNAH1):c.12398G>A (p.Arg4133His)
NM_015512.5(DNAH1):c.12441+18G>T
NM_015512.5(DNAH1):c.12442-13T>C
NM_015512.5(DNAH1):c.12442-14G>T
NM_015512.5(DNAH1):c.12454G>A (p.Ala4152Thr)
NM_015512.5(DNAH1):c.12459A>G (p.Pro4153=)
NM_015512.5(DNAH1):c.124C>A (p.Leu42Ile)
NM_015512.5(DNAH1):c.12501T>C (p.His4167=) rs372804755
NM_015512.5(DNAH1):c.12510C>A (p.Phe4170Leu)
NM_015512.5(DNAH1):c.1255C>G (p.Leu419Val) rs1386162482
NM_015512.5(DNAH1):c.12578C>T (p.Thr4193Ile)
NM_015512.5(DNAH1):c.1257G>A (p.Leu419=)
NM_015512.5(DNAH1):c.12585G>A (p.Met4195Ile)
NM_015512.5(DNAH1):c.12589G>A (p.Val4197Ile)
NM_015512.5(DNAH1):c.12595T>C (p.Trp4199Arg) rs1578213024
NM_015512.5(DNAH1):c.12605C>T (p.Pro4202Leu) rs2153225921
NM_015512.5(DNAH1):c.12642C>T (p.Tyr4214=)
NM_015512.5(DNAH1):c.12659A>G (p.Lys4220Arg)
NM_015512.5(DNAH1):c.1265C>T (p.Pro422Leu) rs568165971
NM_015512.5(DNAH1):c.12664C>G (p.Leu4222Val)
NM_015512.5(DNAH1):c.12676+7_12676+8insC
NM_015512.5(DNAH1):c.12676+8G>T
NM_015512.5(DNAH1):c.12677-17C>G
NM_015512.5(DNAH1):c.12677-9_12677-3del
NM_015512.5(DNAH1):c.12690C>G (p.Thr4230=)
NM_015512.5(DNAH1):c.12702T>C (p.Ser4234=)
NM_015512.5(DNAH1):c.12705C>T (p.Thr4235=) rs1578214285
NM_015512.5(DNAH1):c.1270A>T (p.Met424Leu)
NM_015512.5(DNAH1):c.12721G>A (p.Val4241Met) rs1455402786
NM_015512.5(DNAH1):c.12735C>T (p.Thr4245=)
NM_015512.5(DNAH1):c.12747G>A (p.Gln4249=)
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.1274G>T (p.Arg425Leu) rs200951874
NM_015512.5(DNAH1):c.12753C>T (p.His4251=) rs759006505
NM_015512.5(DNAH1):c.12789G>C (p.Leu4263=)
NM_015512.5(DNAH1):c.1286+11G>A rs115799675
NM_015512.5(DNAH1):c.1286+11G>T
NM_015512.5(DNAH1):c.1286+14C>T
NM_015512.5(DNAH1):c.1286+15G>A
NM_015512.5(DNAH1):c.1286+18C>T
NM_015512.5(DNAH1):c.1286+1G>A
NM_015512.5(DNAH1):c.1286+7C>A
NM_015512.5(DNAH1):c.1286+9C>T
NM_015512.5(DNAH1):c.1287-14A>G
NM_015512.5(DNAH1):c.1287-15C>T
NM_015512.5(DNAH1):c.1287-17C>T
NM_015512.5(DNAH1):c.1287-8A>C
NM_015512.5(DNAH1):c.1339C>T (p.Arg447Cys)
NM_015512.5(DNAH1):c.1387G>A (p.Glu463Lys)
NM_015512.5(DNAH1):c.1394_1396del (p.Phe465del)
NM_015512.5(DNAH1):c.13A>C (p.Asn5His)
NM_015512.5(DNAH1):c.1401C>T (p.Tyr467=)
NM_015512.5(DNAH1):c.1417A>G (p.Lys473Glu)
NM_015512.5(DNAH1):c.1435_1444+3del
NM_015512.5(DNAH1):c.1436C>G (p.Pro479Arg)
NM_015512.5(DNAH1):c.1438G>A (p.Glu480Lys)
NM_015512.5(DNAH1):c.143G>A (p.Gly48Glu)
NM_015512.5(DNAH1):c.1444+11C>T
NM_015512.5(DNAH1):c.1444+20G>A
NM_015512.5(DNAH1):c.1445-13C>T
NM_015512.5(DNAH1):c.1445-8C>A
NM_015512.5(DNAH1):c.1470C>T (p.His490=)
NM_015512.5(DNAH1):c.1479G>T (p.Glu493Asp)
NM_015512.5(DNAH1):c.1501G>A (p.Val501Met)
NM_015512.5(DNAH1):c.150A>G (p.Gly50=) rs2153222765
NM_015512.5(DNAH1):c.1512C>T (p.Leu504=) rs1465711189
NM_015512.5(DNAH1):c.151A>G (p.Asn51Asp)
NM_015512.5(DNAH1):c.1533G>A (p.Thr511=)
NM_015512.5(DNAH1):c.1534G>A (p.Ala512Thr)
NM_015512.5(DNAH1):c.1584G>C (p.Leu528=)
NM_015512.5(DNAH1):c.1599C>T (p.Leu533=)
NM_015512.5(DNAH1):c.1601C>T (p.Ser534Phe)
NM_015512.5(DNAH1):c.1608C>T (p.Tyr536=)
NM_015512.5(DNAH1):c.1612C>G (p.His538Asp)
NM_015512.5(DNAH1):c.1647C>G (p.Thr549=)
NM_015512.5(DNAH1):c.1652C>T (p.Ser551Phe)
NM_015512.5(DNAH1):c.1656+15A>G
NM_015512.5(DNAH1):c.1656+1G>C
NM_015512.5(DNAH1):c.1657-20G>A
NM_015512.5(DNAH1):c.1657-6C>T
NM_015512.5(DNAH1):c.1659G>A (p.Val553=)
NM_015512.5(DNAH1):c.1664T>C (p.Met555Thr) rs1553631684
NM_015512.5(DNAH1):c.1667T>C (p.Phe556Ser) rs888102573
NM_015512.5(DNAH1):c.1708C>A (p.Arg570Ser) rs184765148
NM_015512.5(DNAH1):c.1709G>T (p.Arg570Leu) rs771126013
NM_015512.5(DNAH1):c.170C>T (p.Pro57Leu) rs1559485379
NM_015512.5(DNAH1):c.171del (p.Lys58fs)
NM_015512.5(DNAH1):c.1773C>T (p.Tyr591=) rs2153223792
NM_015512.5(DNAH1):c.1774C>T (p.Leu592Phe) rs764900562
NM_015512.5(DNAH1):c.1791C>T (p.Arg597=)
NM_015512.5(DNAH1):c.17G>A (p.Ser6Asn) rs2153222741
NM_015512.5(DNAH1):c.1814A>G (p.Tyr605Cys) rs374932504
NM_015512.5(DNAH1):c.1821G>T (p.Leu607=)
NM_015512.5(DNAH1):c.1823A>G (p.Gln608Arg)
NM_015512.5(DNAH1):c.1831C>T (p.Leu611=)
NM_015512.5(DNAH1):c.1834C>T (p.Arg612Cys) rs762421307
NM_015512.5(DNAH1):c.1896C>T (p.Ser632=)
NM_015512.5(DNAH1):c.1902C>T (p.Leu634=)
NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs) rs557979163
NM_015512.5(DNAH1):c.1927G>A (p.Gly643Ser)
NM_015512.5(DNAH1):c.1946G>T (p.Ser649Ile)
NM_015512.5(DNAH1):c.194C>T (p.Pro65Leu)
NM_015512.5(DNAH1):c.1955+12C>T
NM_015512.5(DNAH1):c.1955+13G>A
NM_015512.5(DNAH1):c.1955+17C>T
NM_015512.5(DNAH1):c.1955+18G>A
NM_015512.5(DNAH1):c.1955+7C>T
NM_015512.5(DNAH1):c.1956-11A>G
NM_015512.5(DNAH1):c.1956-11dup
NM_015512.5(DNAH1):c.1956-5T>C
NM_015512.5(DNAH1):c.1958C>T (p.Pro653Leu)
NM_015512.5(DNAH1):c.1962G>A (p.Arg654=)
NM_015512.5(DNAH1):c.2005_2014del (p.Gly669fs) rs2153223851
NM_015512.5(DNAH1):c.201C>T (p.Ala67=)
NM_015512.5(DNAH1):c.202_203del (p.Pro68fs)
NM_015512.5(DNAH1):c.2042C>A (p.Ala681Glu)
NM_015512.5(DNAH1):c.2065A>G (p.Lys689Glu) rs2153223860
NM_015512.5(DNAH1):c.2087C>A (p.Ala696Asp)
NM_015512.5(DNAH1):c.2088C>T (p.Ala696=)
NM_015512.5(DNAH1):c.2089G>A (p.Val697Met)
NM_015512.5(DNAH1):c.2106+3A>G rs1702215639
NM_015512.5(DNAH1):c.210A>G (p.Thr70=)
NM_015512.5(DNAH1):c.2115G>A (p.Met705Ile)
NM_015512.5(DNAH1):c.2121C>T (p.Asp707=)
NM_015512.5(DNAH1):c.2154C>T (p.Ser718=)
NM_015512.5(DNAH1):c.2170C>T (p.Pro724Ser) rs762121402
NM_015512.5(DNAH1):c.2195C>T (p.Thr732Ile)
NM_015512.5(DNAH1):c.2208C>T (p.Ala736=)
NM_015512.5(DNAH1):c.2241C>T (p.Tyr747=) rs145912972
NM_015512.5(DNAH1):c.2284A>T (p.Ile762Phe)
NM_015512.5(DNAH1):c.2286T>G (p.Ile762Met)
NM_015512.5(DNAH1):c.2290T>G (p.Ser764Ala)
NM_015512.5(DNAH1):c.2300+8del
NM_015512.5(DNAH1):c.2300+9G>A
NM_015512.5(DNAH1):c.2301-12T>G
NM_015512.5(DNAH1):c.2301-20C>T
NM_015512.5(DNAH1):c.2301-9T>C
NM_015512.5(DNAH1):c.2312C>T (p.Thr771Met)
NM_015512.5(DNAH1):c.2323T>C (p.Leu775=)
NM_015512.5(DNAH1):c.2334G>A (p.Glu778=)
NM_015512.5(DNAH1):c.2335G>A (p.Val779Met) rs776836168
NM_015512.5(DNAH1):c.2337G>T (p.Val779=) rs201723256
NM_015512.5(DNAH1):c.2337_2338delinsTT (p.Arg780Trp) rs2153223904
NM_015512.5(DNAH1):c.2356C>A (p.His786Asn)
NM_015512.5(DNAH1):c.2365G>A (p.Glu789Lys) rs1578117834
NM_015512.5(DNAH1):c.2387C>T (p.Ser796Leu)
NM_015512.5(DNAH1):c.2388G>A (p.Ser796=)
NM_015512.5(DNAH1):c.2403C>T (p.Ile801=)
NM_015512.5(DNAH1):c.2418C>T (p.Phe806=)
NM_015512.5(DNAH1):c.2422A>G (p.Ile808Val)
NM_015512.5(DNAH1):c.2430C>G (p.Thr810=)
NM_015512.5(DNAH1):c.2439C>T (p.Val813=)
NM_015512.5(DNAH1):c.2448C>T (p.Ser816=)
NM_015512.5(DNAH1):c.2480C>A (p.Ser827Tyr)
NM_015512.5(DNAH1):c.2481C>T (p.Ser827=)
NM_015512.5(DNAH1):c.2497G>A (p.Ala833Thr)
NM_015512.5(DNAH1):c.2502G>A (p.Lys834=)
NM_015512.5(DNAH1):c.2505C>T (p.Asn835=)
NM_015512.5(DNAH1):c.2511T>C (p.His837=)
NM_015512.5(DNAH1):c.2512A>G (p.Lys838Glu) rs1578118270
NM_015512.5(DNAH1):c.2517G>C (p.Glu839Asp)
NM_015512.5(DNAH1):c.2526+12C>A
NM_015512.5(DNAH1):c.2526+13C>T
NM_015512.5(DNAH1):c.2526+8C>T
NM_015512.5(DNAH1):c.2527-18G>A
NM_015512.5(DNAH1):c.2527-18G>T rs189852410
NM_015512.5(DNAH1):c.2527-19C>T
NM_015512.5(DNAH1):c.2531G>T (p.Cys844Phe) rs780729738
NM_015512.5(DNAH1):c.2546G>A (p.Ser849Asn) rs1421170448
NM_015512.5(DNAH1):c.2553C>A (p.Ser851Arg)
NM_015512.5(DNAH1):c.2555G>A (p.Arg852His) rs749833949
NM_015512.5(DNAH1):c.2587G>A (p.Glu863Lys)
NM_015512.5(DNAH1):c.2601G>T (p.Leu867=)
NM_015512.5(DNAH1):c.2603G>A (p.Arg868Gln)
NM_015512.5(DNAH1):c.2624C>T (p.Pro875Leu)
NM_015512.5(DNAH1):c.2625G>A (p.Pro875=)
NM_015512.5(DNAH1):c.2645A>G (p.Glu882Gly)
NM_015512.5(DNAH1):c.2646+10G>A
NM_015512.5(DNAH1):c.2646+14_2646+21del rs1321238853
NM_015512.5(DNAH1):c.2646+15C>T
NM_015512.5(DNAH1):c.2647-12C>T
NM_015512.5(DNAH1):c.2647-14A>G rs2153223963
NM_015512.5(DNAH1):c.2650C>T (p.Arg884Trp)
NM_015512.5(DNAH1):c.2651G>A (p.Arg884Gln)
NM_015512.5(DNAH1):c.2656G>T (p.Val886Leu)
NM_015512.5(DNAH1):c.2689G>A (p.Glu897Lys) rs2153223965
NM_015512.5(DNAH1):c.2703C>T (p.Asn901=)
NM_015512.5(DNAH1):c.2706C>T (p.Leu902=) rs1265023949
NM_015512.5(DNAH1):c.2721C>G (p.Phe907Leu) rs1702334172
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp) rs1416177113
NM_015512.5(DNAH1):c.2728_2729+2del
NM_015512.5(DNAH1):c.2729+16G>A
NM_015512.5(DNAH1):c.2729+7G>A
NM_015512.5(DNAH1):c.2730-12C>A
NM_015512.5(DNAH1):c.2730-14C>T rs183881345
NM_015512.5(DNAH1):c.2730-7C>G rs545970781
NM_015512.5(DNAH1):c.2730-7C>T rs545970781
NM_015512.5(DNAH1):c.2736T>C (p.Ile912=)
NM_015512.5(DNAH1):c.2738C>A (p.Ala913Asp)
NM_015512.5(DNAH1):c.2749C>T (p.Pro917Ser)
NM_015512.5(DNAH1):c.2784G>A (p.Gln928=)
NM_015512.5(DNAH1):c.2793T>C (p.His931=) rs774856786
NM_015512.5(DNAH1):c.2799G>A (p.Glu933=)
NM_015512.5(DNAH1):c.2809A>G (p.Lys937Glu)
NM_015512.5(DNAH1):c.284G>A (p.Arg95His)
NM_015512.5(DNAH1):c.2850A>G (p.Gln950=)
NM_015512.5(DNAH1):c.2872-20C>T
NM_015512.5(DNAH1):c.2872-6C>A
NM_015512.5(DNAH1):c.2872-9G>C
NM_015512.5(DNAH1):c.2874G>T (p.Leu958=)
NM_015512.5(DNAH1):c.2898T>C (p.His966=)
NM_015512.5(DNAH1):c.2911C>T (p.Arg971Cys)
NM_015512.5(DNAH1):c.2921_2939dup (p.Arg981fs) rs2153224037
NM_015512.5(DNAH1):c.2926del (p.Ala976fs)
NM_015512.5(DNAH1):c.2938C>T (p.Arg980Trp)
NM_015512.5(DNAH1):c.2942G>A (p.Arg981His)
NM_015512.5(DNAH1):c.2955G>A (p.Gln985=) rs2153224040
NM_015512.5(DNAH1):c.297C>T (p.Ser99=)
NM_015512.5(DNAH1):c.2989A>G (p.Asn997Asp) rs2153224041
NM_015512.5(DNAH1):c.2992A>G (p.Asn998Asp) rs1042476924
NM_015512.5(DNAH1):c.2995C>T (p.Arg999Cys)
NM_015512.5(DNAH1):c.2997C>A (p.Arg999=)
NM_015512.5(DNAH1):c.3002G>A (p.Arg1001His) rs200640418
NM_015512.5(DNAH1):c.3003C>T (p.Arg1001=)
NM_015512.5(DNAH1):c.3026A>G (p.Asn1009Ser)
NM_015512.5(DNAH1):c.3027+15G>A
NM_015512.5(DNAH1):c.3027+9C>T
NM_015512.5(DNAH1):c.304C>T (p.Leu102Phe) rs779382795
NM_015512.5(DNAH1):c.3063A>G (p.Gln1021=)
NM_015512.5(DNAH1):c.3090G>T (p.Ala1030=)
NM_015512.5(DNAH1):c.309C>T (p.Ser103=)
NM_015512.5(DNAH1):c.3107G>A (p.Trp1036Ter) rs1247282335
NM_015512.5(DNAH1):c.3114G>T (p.Glu1038Asp)
NM_015512.5(DNAH1):c.3128A>T (p.Asp1043Val)
NM_015512.5(DNAH1):c.3131C>A (p.Pro1044His) rs748968242
NM_015512.5(DNAH1):c.3135C>T (p.Leu1045=) rs774105659
NM_015512.5(DNAH1):c.3183dup (p.Lys1062fs)
NM_015512.5(DNAH1):c.3191T>C (p.Met1064Thr) rs1702469409
NM_015512.5(DNAH1):c.3226+16G>C
NM_015512.5(DNAH1):c.3226+20A>G
NM_015512.5(DNAH1):c.3226+6G>A
NM_015512.5(DNAH1):c.3227-20G>A
NM_015512.5(DNAH1):c.3227-4G>C rs758277364
NM_015512.5(DNAH1):c.3242C>T (p.Ala1081Val)
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp) rs199955529
NM_015512.5(DNAH1):c.3254G>A (p.Arg1085Gln)
NM_015512.5(DNAH1):c.3255G>A (p.Arg1085=)
NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His) rs145381093
NM_015512.5(DNAH1):c.3260G>T (p.Arg1087Leu) rs145381093
NM_015512.5(DNAH1):c.3262A>T (p.Ile1088Phe) rs1432582836
NM_015512.5(DNAH1):c.3264C>T (p.Ile1088=)
NM_015512.5(DNAH1):c.3266A>G (p.Glu1089Gly)
NM_015512.5(DNAH1):c.3279A>G (p.Pro1093=) rs943271182
NM_015512.5(DNAH1):c.3288A>G (p.Pro1096=)
NM_015512.5(DNAH1):c.3325C>T (p.Arg1109Trp)
NM_015512.5(DNAH1):c.333+10G>A
NM_015512.5(DNAH1):c.333+15C>T
NM_015512.5(DNAH1):c.334-15A>G
NM_015512.5(DNAH1):c.3345C>T (p.Ser1115=)
NM_015512.5(DNAH1):c.3353T>C (p.Ile1118Thr) rs1702483838
NM_015512.5(DNAH1):c.3356A>G (p.Asn1119Ser)
NM_015512.5(DNAH1):c.3376G>A (p.Ala1126Thr)
NM_015512.5(DNAH1):c.3392C>A (p.Ala1131Asp) rs1553633502
NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn) rs1702487234
NM_015512.5(DNAH1):c.3453G>A (p.Val1151=)
NM_015512.5(DNAH1):c.3458G>A (p.Gly1153Asp)
NM_015512.5(DNAH1):c.3480+17G>A
NM_015512.5(DNAH1):c.3480+1G>C
NM_015512.5(DNAH1):c.3480+4G>A
NM_015512.5(DNAH1):c.3481-11C>G
NM_015512.5(DNAH1):c.3481-6C>T
NM_015512.5(DNAH1):c.3481-8G>C
NM_015512.5(DNAH1):c.3497A>G (p.Glu1166Gly)
NM_015512.5(DNAH1):c.3510G>C (p.Ser1170=)
NM_015512.5(DNAH1):c.352C>T (p.Arg118Ter)
NM_015512.5(DNAH1):c.3543G>A (p.Ala1181=)
NM_015512.5(DNAH1):c.3570G>A (p.Pro1190=)
NM_015512.5(DNAH1):c.3579C>T (p.Ala1193=)
NM_015512.5(DNAH1):c.3583C>T (p.Gln1195Ter)
NM_015512.5(DNAH1):c.3603C>T (p.Ile1201=)
NM_015512.5(DNAH1):c.3607A>G (p.Met1203Val)
NM_015512.5(DNAH1):c.3621G>A (p.Met1207Ile) rs1212078010
NM_015512.5(DNAH1):c.3629C>T (p.Ser1210Leu)
NM_015512.5(DNAH1):c.3649G>C (p.Glu1217Gln) rs1578130175
NM_015512.5(DNAH1):c.3655C>T (p.Arg1219Cys)
NM_015512.5(DNAH1):c.3656G>A (p.Arg1219His)
NM_015512.5(DNAH1):c.3669G>C (p.Trp1223Cys)
NM_015512.5(DNAH1):c.3679C>G (p.Leu1227Val)
NM_015512.5(DNAH1):c.3681G>A (p.Leu1227=)
NM_015512.5(DNAH1):c.3693+14C>T
NM_015512.5(DNAH1):c.3693+15C>A
NM_015512.5(DNAH1):c.3693+15C>G
NM_015512.5(DNAH1):c.3693+15C>T rs138304417
NM_015512.5(DNAH1):c.3693+19C>G
NM_015512.5(DNAH1):c.3693+4G>A
NM_015512.5(DNAH1):c.3694-16CCCCT[3] rs544767337
NM_015512.5(DNAH1):c.3725G>A (p.Arg1242Gln) rs574664508
NM_015512.5(DNAH1):c.3725G>C (p.Arg1242Pro) rs574664508
NM_015512.5(DNAH1):c.3735C>G (p.Leu1245=)
NM_015512.5(DNAH1):c.3740T>A (p.Leu1247Gln)
NM_015512.5(DNAH1):c.3753T>C (p.Phe1251=)
NM_015512.5(DNAH1):c.3759T>C (p.Ser1253=)
NM_015512.5(DNAH1):c.3762G>A (p.Glu1254=)
NM_015512.5(DNAH1):c.3762G>T (p.Glu1254Asp)
NM_015512.5(DNAH1):c.3773A>C (p.Gln1258Pro)
NM_015512.5(DNAH1):c.3797G>A (p.Arg1266His)
NM_015512.5(DNAH1):c.3846C>T (p.Tyr1282=) rs759891550
NM_015512.5(DNAH1):c.3854G>A (p.Arg1285Gln)
NM_015512.5(DNAH1):c.3858+16G>A
NM_015512.5(DNAH1):c.3858+9A>C
NM_015512.5(DNAH1):c.3859-11G>T
NM_015512.5(DNAH1):c.3859-17T>C
NM_015512.5(DNAH1):c.3859-8C>T rs1208277907
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly) rs1131692251
NM_015512.5(DNAH1):c.3868G>C (p.Val1290Leu)
NM_015512.5(DNAH1):c.3876C>T (p.Ser1292=)
NM_015512.5(DNAH1):c.3888G>C (p.Met1296Ile)
NM_015512.5(DNAH1):c.389A>G (p.Asp130Gly)
NM_015512.5(DNAH1):c.391A>T (p.Lys131Ter)
NM_015512.5(DNAH1):c.3921G>C (p.Leu1307=)
NM_015512.5(DNAH1):c.3922G>A (p.Asp1308Asn)
NM_015512.5(DNAH1):c.3925C>T (p.Leu1309=)
NM_015512.5(DNAH1):c.3945C>T (p.Ser1315=)
NM_015512.5(DNAH1):c.3946G>A (p.Glu1316Lys)
NM_015512.5(DNAH1):c.3970G>A (p.Ala1324Thr) rs749595549
NM_015512.5(DNAH1):c.3977C>G (p.Pro1326Arg)
NM_015512.5(DNAH1):c.3980+4G>C rs1327933716
NM_015512.5(DNAH1):c.3980+6C>T
NM_015512.5(DNAH1):c.3980+7G>A
NM_015512.5(DNAH1):c.4001A>G (p.Asp1334Gly)
NM_015512.5(DNAH1):c.4005A>G (p.Glu1335=) rs1553634511
NM_015512.5(DNAH1):c.4015A>G (p.Ile1339Val)
NM_015512.5(DNAH1):c.4020G>A (p.Leu1340=)
NM_015512.5(DNAH1):c.4023G>A (p.Ser1341=) rs149752071
NM_015512.5(DNAH1):c.4023G>T (p.Ser1341=)
NM_015512.5(DNAH1):c.4040C>T (p.Thr1347Met)
NM_015512.5(DNAH1):c.4052C>T (p.Pro1351Leu)
NM_015512.5(DNAH1):c.406+16G>A
NM_015512.5(DNAH1):c.406+6T>A rs1701242021
NM_015512.5(DNAH1):c.406+9T>C
NM_015512.5(DNAH1):c.4060C>T (p.Arg1354Cys)
NM_015512.5(DNAH1):c.4061G>A (p.Arg1354His)
NM_015512.5(DNAH1):c.407-10C>G
NM_015512.5(DNAH1):c.407-19C>T
NM_015512.5(DNAH1):c.407-8A>G
NM_015512.5(DNAH1):c.4080C>G (p.Ile1360Met)
NM_015512.5(DNAH1):c.4080C>T (p.Ile1360=) rs199624371
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu) rs1559525094
NM_015512.5(DNAH1):c.4086+16C>T
NM_015512.5(DNAH1):c.4086+17G>A
NM_015512.5(DNAH1):c.4087-6T>C rs2153224258
NM_015512.5(DNAH1):c.4089_4090delinsTT (p.Leu1363_Leu1364=) rs2153224259
NM_015512.5(DNAH1):c.408C>A (p.Val136=) rs368577542
NM_015512.5(DNAH1):c.4092A>G (p.Leu1364=)
NM_015512.5(DNAH1):c.4101G>A (p.Glu1367=)
NM_015512.5(DNAH1):c.4120A>G (p.Met1374Val)
NM_015512.5(DNAH1):c.4131C>G (p.Ala1377=)
NM_015512.5(DNAH1):c.4134G>C (p.Glu1378Asp)
NM_015512.5(DNAH1):c.4134G>T (p.Glu1378Asp) rs759023536
NM_015512.5(DNAH1):c.4158C>T (p.Phe1386=) rs1702718055
NM_015512.5(DNAH1):c.4168C>T (p.Pro1390Ser) rs552886396
NM_015512.5(DNAH1):c.4179C>T (p.Asn1393=)
NM_015512.5(DNAH1):c.4180G>A (p.Val1394Met)
NM_015512.5(DNAH1):c.4203G>A (p.Val1401=) rs1702720965
NM_015512.5(DNAH1):c.4230C>T (p.His1410=)
NM_015512.5(DNAH1):c.4239T>C (p.Ile1413=)
NM_015512.5(DNAH1):c.4246G>A (p.Ala1416Thr)
NM_015512.5(DNAH1):c.4252_4266+9del
NM_015512.5(DNAH1):c.4266+10C>T
NM_015512.5(DNAH1):c.4266+11C>T rs779077427
NM_015512.5(DNAH1):c.4266+12G>A
NM_015512.5(DNAH1):c.4266+8G>T
NM_015512.5(DNAH1):c.4267-12C>T
NM_015512.5(DNAH1):c.4267-15A>G
NM_015512.5(DNAH1):c.4267-5C>T
NM_015512.5(DNAH1):c.4267-8C>T
NM_015512.5(DNAH1):c.4276A>G (p.Thr1426Ala) rs2153224279
NM_015512.5(DNAH1):c.4284G>A (p.Trp1428Ter)
NM_015512.5(DNAH1):c.4293C>T (p.Asn1431=) rs1473566116
NM_015512.5(DNAH1):c.4314C>T (p.Ile1438=)
NM_015512.5(DNAH1):c.4320G>T (p.Gly1440=)
NM_015512.5(DNAH1):c.436del (p.Gln146fs) rs1701330284
NM_015512.5(DNAH1):c.4371C>A (p.Asn1457Lys)
NM_015512.5(DNAH1):c.4384C>G (p.Leu1462Val) rs1346446833
NM_015512.5(DNAH1):c.4390C>T (p.Pro1464Ser)
NM_015512.5(DNAH1):c.4393del (p.Gln1465fs)
NM_015512.5(DNAH1):c.4398C>T (p.Leu1466=)
NM_015512.5(DNAH1):c.4407+20C>T
NM_015512.5(DNAH1):c.4408-16C>T
NM_015512.5(DNAH1):c.4408-20A>G
NM_015512.5(DNAH1):c.4408-7T>C
NM_015512.5(DNAH1):c.4431G>A (p.Val1477=)
NM_015512.5(DNAH1):c.443G>A (p.Arg148His)
NM_015512.5(DNAH1):c.4446C>G (p.Ser1482=)
NM_015512.5(DNAH1):c.4448G>A (p.Arg1483His)
NM_015512.5(DNAH1):c.4449C>T (p.Arg1483=)
NM_015512.5(DNAH1):c.444C>T (p.Arg148=)
NM_015512.5(DNAH1):c.4472C>T (p.Ala1491Val) rs369943421
NM_015512.5(DNAH1):c.4476A>C (p.Leu1492=)
NM_015512.5(DNAH1):c.4477A>G (p.Ile1493Val) rs375805820
NM_015512.5(DNAH1):c.4479C>T (p.Ile1493=)
NM_015512.5(DNAH1):c.447G>A (p.Met149Ile)
NM_015512.5(DNAH1):c.4483A>T (p.Ile1495Phe)
NM_015512.5(DNAH1):c.4484T>C (p.Ile1495Thr)
NM_015512.5(DNAH1):c.4497C>T (p.Ala1499=)
NM_015512.5(DNAH1):c.4509G>A (p.Val1503=)
NM_015512.5(DNAH1):c.4515G>A (p.Lys1505=)
NM_015512.5(DNAH1):c.4521C>A (p.Ile1507=) rs186620563
NM_015512.5(DNAH1):c.4539C>T (p.Ser1513=)
NM_015512.5(DNAH1):c.4540G>A (p.Val1514Met)
NM_015512.5(DNAH1):c.4552C>T (p.Gln1518Ter)
NM_015512.5(DNAH1):c.456G>A (p.Gln152=)
NM_015512.5(DNAH1):c.4571+11G>A
NM_015512.5(DNAH1):c.4571+16G>A
NM_015512.5(DNAH1):c.4571+16dup rs577051256
NM_015512.5(DNAH1):c.4571+3G>C rs2153224314
NM_015512.5(DNAH1):c.4571+9A>G
NM_015512.5(DNAH1):c.4572-2A>G
NM_015512.5(DNAH1):c.4572-6C>T
NM_015512.5(DNAH1):c.4575C>T (p.Tyr1525=) rs890356937
NM_015512.5(DNAH1):c.4577A>C (p.Tyr1526Ser) rs2153224324
NM_015512.5(DNAH1):c.4583C>T (p.Thr1528Ile)
NM_015512.5(DNAH1):c.4596G>A (p.Leu1532=)
NM_015512.5(DNAH1):c.4604G>A (p.Arg1535His)
NM_015512.5(DNAH1):c.4609G>A (p.Val1537Met)
NM_015512.5(DNAH1):c.460A>C (p.Ile154Leu)
NM_015512.5(DNAH1):c.4619A>G (p.Glu1540Gly) rs1702803990
NM_015512.5(DNAH1):c.4624A>G (p.Ile1542Val) rs774128104
NM_015512.5(DNAH1):c.4638G>A (p.Glu1546=)
NM_015512.5(DNAH1):c.4644G>A (p.Leu1548=)
NM_015512.5(DNAH1):c.4650C>T (p.Asn1550=)
NM_015512.5(DNAH1):c.4654G>C (p.Gly1552Arg) rs1702805434
NM_015512.5(DNAH1):c.4671G>A (p.Thr1557=)
NM_015512.5(DNAH1):c.4674C>T (p.Pro1558=)
NM_015512.5(DNAH1):c.4683C>T (p.Asp1561=)
NM_015512.5(DNAH1):c.4685+13C>T
NM_015512.5(DNAH1):c.4685+7G>A
NM_015512.5(DNAH1):c.4686-3C>A rs1268954616
NM_015512.5(DNAH1):c.4686-8T>C
NM_015512.5(DNAH1):c.4686G>A (p.Arg1562=)
NM_015512.5(DNAH1):c.4698A>G (p.Thr1566=)
NM_015512.5(DNAH1):c.469A>G (p.Thr157Ala)
NM_015512.5(DNAH1):c.4701G>A (p.Leu1567=)
NM_015512.5(DNAH1):c.4721A>G (p.Lys1574Arg)
NM_015512.5(DNAH1):c.4735CCAGCTGGC[1] (p.1579PAG[1])
NM_015512.5(DNAH1):c.4757del (p.Gly1586fs)
NM_015512.5(DNAH1):c.475del (p.Arg159fs)
NM_015512.5(DNAH1):c.476G>A (p.Arg159Gln)
NM_015512.5(DNAH1):c.4770C>T (p.Thr1590=)
NM_015512.5(DNAH1):c.4772C>T (p.Thr1591Ile) rs1559529321
NM_015512.5(DNAH1):c.4778dup (p.Asp1593fs)
NM_015512.5(DNAH1):c.4798A>G (p.Ile1600Val) rs2153224368
NM_015512.5(DNAH1):c.481C>T (p.Leu161Phe)
NM_015512.5(DNAH1):c.4848G>A (p.Met1616Ile)
NM_015512.5(DNAH1):c.484G>A (p.Ala162Thr)
NM_015512.5(DNAH1):c.485C>A (p.Ala162Asp) rs993782683
NM_015512.5(DNAH1):c.4874+19G>A
NM_015512.5(DNAH1):c.4874+5G>A rs1282136699
NM_015512.5(DNAH1):c.4875-19A>G
NM_015512.5(DNAH1):c.4899C>T (p.Asp1633=)
NM_015512.5(DNAH1):c.489G>A (p.Gln163=)
NM_015512.5(DNAH1):c.4905C>G (p.Phe1635Leu)
NM_015512.5(DNAH1):c.4905C>T (p.Phe1635=)
NM_015512.5(DNAH1):c.4907A>G (p.Asn1636Ser)
NM_015512.5(DNAH1):c.490A>G (p.Thr164Ala) rs754602688
NM_015512.5(DNAH1):c.4914C>T (p.Ile1638=)
NM_015512.5(DNAH1):c.4920C>T (p.Ile1640=)
NM_015512.5(DNAH1):c.4921G>C (p.Glu1641Gln) rs754476644
NM_015512.5(DNAH1):c.4926G>A (p.Val1642=)
NM_015512.5(DNAH1):c.4968G>A (p.Ala1656=)
NM_015512.5(DNAH1):c.4978C>T (p.Arg1660Trp)
NM_015512.5(DNAH1):c.4979G>A (p.Arg1660Gln)
NM_015512.5(DNAH1):c.4980+9G>A
NM_015512.5(DNAH1):c.4981-20T>C
NM_015512.5(DNAH1):c.4981-7A>C rs756191237
NM_015512.5(DNAH1):c.4987C>G (p.Arg1663Gly) rs17052097
NM_015512.5(DNAH1):c.4987C>T (p.Arg1663Cys) rs17052097
NM_015512.5(DNAH1):c.4990T>G (p.Phe1664Val)
NM_015512.5(DNAH1):c.4995G>A (p.Met1665Ile) rs1702900648
NM_015512.5(DNAH1):c.5024C>T (p.Pro1675Leu)
NM_015512.5(DNAH1):c.5054C>G (p.Pro1685Arg)
NM_015512.5(DNAH1):c.5061C>T (p.Tyr1687=)
NM_015512.5(DNAH1):c.5072C>T (p.Thr1691Met)
NM_015512.5(DNAH1):c.5082T>C (p.Pro1694=)
NM_015512.5(DNAH1):c.5094+2C>T rs1578143757
NM_015512.5(DNAH1):c.5094+8del
NM_015512.5(DNAH1):c.5095-12TG[2]
NM_015512.5(DNAH1):c.5095-14A>C
NM_015512.5(DNAH1):c.5095-15C>A
NM_015512.5(DNAH1):c.5095-17T>G
NM_015512.5(DNAH1):c.5097G>A (p.Ala1699=)
NM_015512.5(DNAH1):c.5097G>T (p.Ala1699=) rs974198069
NM_015512.5(DNAH1):c.5109C>T (p.Pro1703=)
NM_015512.5(DNAH1):c.5122G>A (p.Val1708Ile)
NM_015512.5(DNAH1):c.5134G>A (p.Ala1712Thr)
NM_015512.5(DNAH1):c.513C>T (p.Tyr171=)
NM_015512.5(DNAH1):c.5156T>A (p.Leu1719His)
NM_015512.5(DNAH1):c.5172T>G (p.Phe1724Leu)
NM_015512.5(DNAH1):c.519C>T (p.Pro173=)
NM_015512.5(DNAH1):c.51C>T (p.Gly17=)
NM_015512.5(DNAH1):c.5206_5207del (p.Thr1736fs)
NM_015512.5(DNAH1):c.5221T>G (p.Ser1741Ala) rs1010766404
NM_015512.5(DNAH1):c.5225C>T (p.Ser1742Phe)
NM_015512.5(DNAH1):c.5232G>A (p.Gln1744=)
NM_015512.5(DNAH1):c.5244+20G>C
NM_015512.5(DNAH1):c.5244+8C>T
NM_015512.5(DNAH1):c.5245-10A>G
NM_015512.5(DNAH1):c.5245-17C>T
NM_015512.5(DNAH1):c.5245-5G>A
NM_015512.5(DNAH1):c.5245-6C>T
NM_015512.5(DNAH1):c.5255A>T (p.Asp1752Val) rs1702994653
NM_015512.5(DNAH1):c.5262G>C (p.Gly1754=)
NM_015512.5(DNAH1):c.5268A>G (p.Arg1756=)
NM_015512.5(DNAH1):c.526C>T (p.Gln176Ter)
NM_015512.5(DNAH1):c.5271C>T (p.Ala1757=)
NM_015512.5(DNAH1):c.5282_5283del (p.Val1761fs)
NM_015512.5(DNAH1):c.529G>A (p.Val177Met)
NM_015512.5(DNAH1):c.5308C>T (p.Arg1770Ter)
NM_015512.5(DNAH1):c.531G>C (p.Val177=)
NM_015512.5(DNAH1):c.5320A>T (p.Ser1774Cys)
NM_015512.5(DNAH1):c.5331+19G>A rs1702999755
NM_015512.5(DNAH1):c.5331G>A (p.Glu1777=)
NM_015512.5(DNAH1):c.5332-19C>T rs1703003753
NM_015512.5(DNAH1):c.5332-2A>G
NM_015512.5(DNAH1):c.5348G>T (p.Arg1783Leu) rs371787188
NM_015512.5(DNAH1):c.5349G>T (p.Arg1783=)
NM_015512.5(DNAH1):c.5368G>A (p.Val1790Met) rs951278557
NM_015512.5(DNAH1):c.5373C>G (p.Pro1791=)
NM_015512.5(DNAH1):c.5384A>G (p.Gln1795Arg) rs1578147447
NM_015512.5(DNAH1):c.5407G>A (p.Gly1803Ser)
NM_015512.5(DNAH1):c.5434A>G (p.Ile1812Val)
NM_015512.5(DNAH1):c.5439G>A (p.Lys1813=) rs1559533989
NM_015512.5(DNAH1):c.5457C>T (p.Tyr1819=)
NM_015512.5(DNAH1):c.5459G>A (p.Gly1820Asp)
NM_015512.5(DNAH1):c.5479C>T (p.Arg1827Cys) rs765753155
NM_015512.5(DNAH1):c.5493G>T (p.Arg1831Ser) rs1294029143
NM_015512.5(DNAH1):c.54A>G (p.Pro18=)
NM_015512.5(DNAH1):c.5507A>G (p.Lys1836Arg) rs2153224495
NM_015512.5(DNAH1):c.5513_5517dup (p.Gly1840fs)
NM_015512.5(DNAH1):c.5519-10T>C
NM_015512.5(DNAH1):c.5519-18C>T
NM_015512.5(DNAH1):c.5519-4C>G
NM_015512.5(DNAH1):c.5519-8T>C
NM_015512.5(DNAH1):c.551G>A (p.Gly184Asp)
NM_015512.5(DNAH1):c.5547C>A (p.Tyr1849Ter)
NM_015512.5(DNAH1):c.5547C>T (p.Tyr1849=)
NM_015512.5(DNAH1):c.555G>A (p.Gln185=)
NM_015512.5(DNAH1):c.5560G>A (p.Val1854Ile)
NM_015512.5(DNAH1):c.5573T>C (p.Leu1858Pro)
NM_015512.5(DNAH1):c.5581G>A (p.Val1861Ile)
NM_015512.5(DNAH1):c.5584G>C (p.Gly1862Arg) rs374197097
NM_015512.5(DNAH1):c.5610+6C>T
NM_015512.5(DNAH1):c.5611-10C>T
NM_015512.5(DNAH1):c.5611-19C>T
NM_015512.5(DNAH1):c.5611-9G>A rs3752819
NM_015512.5(DNAH1):c.5611-9G>C rs3752819
NM_015512.5(DNAH1):c.5627C>T (p.Ala1876Val)
NM_015512.5(DNAH1):c.562C>G (p.Arg188Gly) rs368210345
NM_015512.5(DNAH1):c.5635A>G (p.Met1879Val) rs1703093178
NM_015512.5(DNAH1):c.563G>A (p.Arg188His)
NM_015512.5(DNAH1):c.5658A>G (p.Pro1886=)
NM_015512.5(DNAH1):c.5721G>A (p.Thr1907=)
NM_015512.5(DNAH1):c.5731C>T (p.Leu1911=) rs369636901
NM_015512.5(DNAH1):c.5733G>A (p.Leu1911=)
NM_015512.5(DNAH1):c.5736C>G (p.Tyr1912Ter)
NM_015512.5(DNAH1):c.5737G>A (p.Gly1913Arg) rs759559439
NM_015512.5(DNAH1):c.5765+13C>G
NM_015512.5(DNAH1):c.5766-16C>A
NM_015512.5(DNAH1):c.5766-16C>T
NM_015512.5(DNAH1):c.5766-20T>C
NM_015512.5(DNAH1):c.576C>A (p.Ile192=) rs555661049
NM_015512.5(DNAH1):c.576C>T (p.Ile192=) rs555661049
NM_015512.5(DNAH1):c.5778A>C (p.Ile1926=)
NM_015512.5(DNAH1):c.5784C>T (p.Ser1928=)
NM_015512.5(DNAH1):c.5786C>T (p.Ser1929Leu)
NM_015512.5(DNAH1):c.5798C>T (p.Ala1933Val)
NM_015512.5(DNAH1):c.5799G>A (p.Ala1933=)
NM_015512.5(DNAH1):c.5804C>A (p.Ala1935Asp)
NM_015512.5(DNAH1):c.5808C>A (p.Ile1936=)
NM_015512.5(DNAH1):c.581+13G>C
NM_015512.5(DNAH1):c.581+14G>C
NM_015512.5(DNAH1):c.581+14G>T
NM_015512.5(DNAH1):c.581+15G>T
NM_015512.5(DNAH1):c.5814C>T (p.Ser1938=)
NM_015512.5(DNAH1):c.5845G>A (p.Gly1949Arg)
NM_015512.5(DNAH1):c.587A>G (p.Lys196Arg)
NM_015512.5(DNAH1):c.5889_5890delinsCT (p.Asp1964Tyr) rs1703197233
NM_015512.5(DNAH1):c.5904G>A (p.Lys1968=)
NM_015512.5(DNAH1):c.5905C>T (p.Leu1969=)
NM_015512.5(DNAH1):c.5913C>T (p.Leu1971=)
NM_015512.5(DNAH1):c.5937C>T (p.Leu1979=) rs2153224633
NM_015512.5(DNAH1):c.5938A>T (p.Thr1980Ser)
NM_015512.5(DNAH1):c.5943+7C>T
NM_015512.5(DNAH1):c.5943+8T>C rs1703201087
NM_015512.5(DNAH1):c.5943+8del rs2153224634
NM_015512.5(DNAH1):c.5944-13G>A
NM_015512.5(DNAH1):c.5944-3del rs1193714564
NM_015512.5(DNAH1):c.5944G>C (p.Ala1982Pro) rs1703246950
NM_015512.5(DNAH1):c.5975T>A (p.Leu1992Gln)
NM_015512.5(DNAH1):c.5977G>A (p.Ala1993Thr)
NM_015512.5(DNAH1):c.5979G>A (p.Ala1993=)
NM_015512.5(DNAH1):c.5982G>A (p.Val1994=)
NM_015512.5(DNAH1):c.5993C>G (p.Ala1998Gly) rs1553637044
NM_015512.5(DNAH1):c.5997A>G (p.Thr1999=)
NM_015512.5(DNAH1):c.6004C>T (p.Arg2002Cys)
NM_015512.5(DNAH1):c.6012C>A (p.Gly2004=)
NM_015512.5(DNAH1):c.6013A>G (p.Met2005Val) rs1673807203
NM_015512.5(DNAH1):c.6014T>C (p.Met2005Thr)
NM_015512.5(DNAH1):c.6018G>A (p.Val2006=)
NM_015512.5(DNAH1):c.6028C>G (p.Pro2010Ala) rs2153224678
NM_015512.5(DNAH1):c.6031A>G (p.Ser2011Gly) rs1703253036
NM_015512.5(DNAH1):c.6051C>T (p.Pro2017=)
NM_015512.5(DNAH1):c.6065_6066delinsTC (p.Trp2022Phe)
NM_015512.5(DNAH1):c.6081T>A (p.Pro2027=) rs754783374
NM_015512.5(DNAH1):c.6098A>G (p.Tyr2033Cys)
NM_015512.5(DNAH1):c.6104A>G (p.Glu2035Gly) rs886826688
NM_015512.5(DNAH1):c.6120C>G (p.Leu2040=) rs1295311826
NM_015512.5(DNAH1):c.6131del (p.Phe2044fs) rs1703258379
NM_015512.5(DNAH1):c.6132C>T (p.Phe2044=)
NM_015512.5(DNAH1):c.6138+10G>T
NM_015512.5(DNAH1):c.6138+14C>T
NM_015512.5(DNAH1):c.6138+16G>T
NM_015512.5(DNAH1):c.6138+18T>C
NM_015512.5(DNAH1):c.6139-4G>A
NM_015512.5(DNAH1):c.6139-6C>T
NM_015512.5(DNAH1):c.6145A>G (p.Ile2049Val)
NM_015512.5(DNAH1):c.6147C>T (p.Ile2049=)
NM_015512.5(DNAH1):c.6153C>T (p.Phe2051=)
NM_015512.5(DNAH1):c.6181G>A (p.Ala2061Thr)
NM_015512.5(DNAH1):c.618G>C (p.Gln206His)
NM_015512.5(DNAH1):c.6197A>C (p.Asn2066Thr)
NM_015512.5(DNAH1):c.6203C>G (p.Thr2068Ser) rs138341550
NM_015512.5(DNAH1):c.6211C>A (p.Leu2071Ile)
NM_015512.5(DNAH1):c.6214C>T (p.Leu2072Phe) rs866023654
NM_015512.5(DNAH1):c.6240G>C (p.Lys2080Asn) rs1302883143
NM_015512.5(DNAH1):c.6243C>T (p.Pro2081=)
NM_015512.5(DNAH1):c.6258+12A>G
NM_015512.5(DNAH1):c.6259-5C>G
NM_015512.5(DNAH1):c.6267G>C (p.Lys2089Asn)
NM_015512.5(DNAH1):c.6276C>T (p.Pro2092=)
NM_015512.5(DNAH1):c.6278C>T (p.Ser2093Phe) rs2153224713
NM_015512.5(DNAH1):c.6297C>G (p.Ile2099Met) rs377060183
NM_015512.5(DNAH1):c.6298G>A (p.Val2100Ile)
NM_015512.5(DNAH1):c.6309C>T (p.Ile2103=)
NM_015512.5(DNAH1):c.6313C>G (p.Pro2105Ala)
NM_015512.5(DNAH1):c.6313C>T (p.Pro2105Ser) rs780811972
NM_015512.5(DNAH1):c.6342C>T (p.Ser2114=)
NM_015512.5(DNAH1):c.6363C>T (p.Ser2121=)
NM_015512.5(DNAH1):c.6371G>A (p.Arg2124His) rs748843812
NM_015512.5(DNAH1):c.6377G>A (p.Ser2126Asn) rs2153224717
NM_015512.5(DNAH1):c.6417+10G>A
NM_015512.5(DNAH1):c.6417+12C>T
NM_015512.5(DNAH1):c.6417+15C>T
NM_015512.5(DNAH1):c.6417+9C>T rs1239356559
NM_015512.5(DNAH1):c.6427C>T (p.Leu2143Phe) rs2153224723
NM_015512.5(DNAH1):c.6430T>C (p.Phe2144Leu) rs768096962
NM_015512.5(DNAH1):c.6445C>T (p.Leu2149=)
NM_015512.5(DNAH1):c.6453C>T (p.Phe2151=) rs1029603522
NM_015512.5(DNAH1):c.6465G>A (p.Leu2155=)
NM_015512.5(DNAH1):c.6472G>A (p.Ala2158Thr)
NM_015512.5(DNAH1):c.6474G>C (p.Ala2158=)
NM_015512.5(DNAH1):c.6485G>C (p.Gly2162Ala)
NM_015512.5(DNAH1):c.6498_6501del (p.Ser2166fs)
NM_015512.5(DNAH1):c.6511G>A (p.Glu2171Lys)
NM_015512.5(DNAH1):c.6525+14C>T
NM_015512.5(DNAH1):c.6525+5C>T
NM_015512.5(DNAH1):c.6526-10A>G
NM_015512.5(DNAH1):c.6526-10_6526-9del rs562893788
NM_015512.5(DNAH1):c.6526-12C>T
NM_015512.5(DNAH1):c.6558_6559delinsCT (p.Pro2187Ser) rs1578161696
NM_015512.5(DNAH1):c.6618C>G (p.Thr2206=)
NM_015512.5(DNAH1):c.6618C>T (p.Thr2206=)
NM_015512.5(DNAH1):c.6632A>G (p.His2211Arg)
NM_015512.5(DNAH1):c.6637C>T (p.Leu2213=)
NM_015512.5(DNAH1):c.6666+10C>G
NM_015512.5(DNAH1):c.6666+11C>A
NM_015512.5(DNAH1):c.6666+13C>G
NM_015512.5(DNAH1):c.6666+14C>G rs147159692
NM_015512.5(DNAH1):c.6666+14C>T
NM_015512.5(DNAH1):c.6666+14del
NM_015512.5(DNAH1):c.6666+1G>A
NM_015512.5(DNAH1):c.6666C>A (p.Pro2222=) rs766093116
NM_015512.5(DNAH1):c.6666C>T (p.Pro2222=)
NM_015512.5(DNAH1):c.6667-10G>A
NM_015512.5(DNAH1):c.6667-10G>C
NM_015512.5(DNAH1):c.6667-11C>T
NM_015512.5(DNAH1):c.6692C>T (p.Thr2231Met)
NM_015512.5(DNAH1):c.6693G>A (p.Thr2231=)
NM_015512.5(DNAH1):c.669G>A (p.Leu223=)
NM_015512.5(DNAH1):c.6707C>T (p.Thr2236Ile)
NM_015512.5(DNAH1):c.6708C>T (p.Thr2236=) rs760148909
NM_015512.5(DNAH1):c.6721C>T (p.Leu2241Phe) rs2153224787
NM_015512.5(DNAH1):c.6741G>A (p.Leu2247=)
NM_015512.5(DNAH1):c.6777C>T (p.Arg2259=)
NM_015512.5(DNAH1):c.6781_6782insG (p.Ser2261fs)
NM_015512.5(DNAH1):c.6788A>C (p.Asn2263Thr) rs140407922
NM_015512.5(DNAH1):c.678G>A (p.Gln226=) rs1553627030
NM_015512.5(DNAH1):c.67G>T (p.Ala23Ser)
NM_015512.5(DNAH1):c.6822C>G (p.Asp2274Glu)
NM_015512.5(DNAH1):c.6827+10C>G
NM_015512.5(DNAH1):c.6827+11C>T
NM_015512.5(DNAH1):c.6827+6G>T
NM_015512.5(DNAH1):c.6827G>A (p.Arg2276Lys)
NM_015512.5(DNAH1):c.6828-6C>G
NM_015512.5(DNAH1):c.6840G>A (p.Val2280=) rs1037481524
NM_015512.5(DNAH1):c.6841T>C (p.Phe2281Leu)
NM_015512.5(DNAH1):c.6851C>T (p.Pro2284Leu)
NM_015512.5(DNAH1):c.6895C>G (p.Pro2299Ala)
NM_015512.5(DNAH1):c.6897G>A (p.Pro2299=)
NM_015512.5(DNAH1):c.68C>T (p.Ala23Val)
NM_015512.5(DNAH1):c.6912C>T (p.Tyr2304=)
NM_015512.5(DNAH1):c.6919C>T (p.Gln2307Ter)
NM_015512.5(DNAH1):c.6921G>A (p.Gln2307=)
NM_015512.5(DNAH1):c.6927C>G (p.Pro2309=)
NM_015512.5(DNAH1):c.6930C>A (p.Ile2310=) rs370197256
NM_015512.5(DNAH1):c.6940C>T (p.Arg2314Cys)
NM_015512.5(DNAH1):c.6941G>T (p.Arg2314Leu) rs759815756
NM_015512.5(DNAH1):c.694G>A (p.Glu232Lys) rs1701363470
NM_015512.5(DNAH1):c.6969C>T (p.Tyr2323=)
NM_015512.5(DNAH1):c.6970G>A (p.Asp2324Asn)
NM_015512.5(DNAH1):c.6971A>G (p.Asp2324Gly) rs1559544611
NM_015512.5(DNAH1):c.6974G>A (p.Arg2325His) rs777773562
NM_015512.5(DNAH1):c.6975C>T (p.Arg2325=)
NM_015512.5(DNAH1):c.6983T>G (p.Ile2328Ser)
NM_015512.5(DNAH1):c.6985+12C>T
NM_015512.5(DNAH1):c.6985+3G>A
NM_015512.5(DNAH1):c.6995A>G (p.Lys2332Arg)
NM_015512.5(DNAH1):c.7000C>A (p.Leu2334Ile) rs781069826
NM_015512.5(DNAH1):c.7008C>T (p.Asp2336=)
NM_015512.5(DNAH1):c.7032C>T (p.Gly2344=)
NM_015512.5(DNAH1):c.7034C>A (p.Pro2345His)
NM_015512.5(DNAH1):c.7037C>T (p.Pro2346Leu)
NM_015512.5(DNAH1):c.7037del (p.Pro2346fs)
NM_015512.5(DNAH1):c.7056C>T (p.Thr2352=)
NM_015512.5(DNAH1):c.7061C>A (p.Thr2354Asn)
NM_015512.5(DNAH1):c.7072A>T (p.Met2358Leu) rs1578169078
NM_015512.5(DNAH1):c.7075C>G (p.Arg2359Gly)
NM_015512.5(DNAH1):c.7075C>T (p.Arg2359Cys)
NM_015512.5(DNAH1):c.7085A>G (p.Asn2362Ser)
NM_015512.5(DNAH1):c.709C>G (p.Pro237Ala)
NM_015512.5(DNAH1):c.7110C>T (p.Asp2370=)
NM_015512.5(DNAH1):c.7111G>A (p.Glu2371Lys)
NM_015512.5(DNAH1):c.7144C>T (p.Leu2382=)
NM_015512.5(DNAH1):c.7147G>T (p.Gly2383Cys)
NM_015512.5(DNAH1):c.7148G>A (p.Gly2383Asp)
NM_015512.5(DNAH1):c.7155G>A (p.Trp2385Ter)
NM_015512.5(DNAH1):c.7156T>C (p.Leu2386=)
NM_015512.5(DNAH1):c.7159+16G>A
NM_015512.5(DNAH1):c.7160-18del
NM_015512.5(DNAH1):c.7161T>C (p.Asp2387=) rs746450942
NM_015512.5(DNAH1):c.7192C>T (p.Arg2398Cys)
NM_015512.5(DNAH1):c.7198+1G>A
NM_015512.5(DNAH1):c.7198+1G>C rs367692811
NM_015512.5(DNAH1):c.7198+9G>A
NM_015512.5(DNAH1):c.7199-14T>C
NM_015512.5(DNAH1):c.7199-19C>T
NM_015512.5(DNAH1):c.7199-3del
NM_015512.5(DNAH1):c.7199-4C>T
NM_015512.5(DNAH1):c.720C>G (p.Pro240=)
NM_015512.5(DNAH1):c.7211A>G (p.His2404Arg) rs755472021
NM_015512.5(DNAH1):c.7226C>T (p.Thr2409Met)
NM_015512.5(DNAH1):c.7272C>T (p.Thr2424=)
NM_015512.5(DNAH1):c.7299G>A (p.Lys2433=)
NM_015512.5(DNAH1):c.7302C>T (p.Ser2434=)
NM_015512.5(DNAH1):c.7303del (p.His2435fs)
NM_015512.5(DNAH1):c.7310C>T (p.Thr2437Ile) rs200196097
NM_015512.5(DNAH1):c.7334A>G (p.Lys2445Arg)
NM_015512.5(DNAH1):c.7342del (p.Gln2448fs)
NM_015512.5(DNAH1):c.7348A>G (p.Met2450Val)
NM_015512.5(DNAH1):c.7366G>A (p.Ala2456Thr)
NM_015512.5(DNAH1):c.7374C>T (p.Val2458=)
NM_015512.5(DNAH1):c.7377+17C>T rs758941523
NM_015512.5(DNAH1):c.7378-15C>G
NM_015512.5(DNAH1):c.7378-19G>A
NM_015512.5(DNAH1):c.7378-20C>T
NM_015512.5(DNAH1):c.737A>C (p.Lys246Thr)
NM_015512.5(DNAH1):c.738+19G>C
NM_015512.5(DNAH1):c.738+3G>A rs2153223050
NM_015512.5(DNAH1):c.738+8G>C rs377327173
NM_015512.5(DNAH1):c.7380C>T (p.Asp2460=) rs1428527168
NM_015512.5(DNAH1):c.7387C>T (p.Gln2463Ter)
NM_015512.5(DNAH1):c.739-5del
NM_015512.5(DNAH1):c.739-8T>G
NM_015512.5(DNAH1):c.7402_7403del (p.Trp2468fs)
NM_015512.5(DNAH1):c.7423G>A (p.Val2475Met)
NM_015512.5(DNAH1):c.7430G>A (p.Arg2477Gln) rs200350050
NM_015512.5(DNAH1):c.7435C>T (p.Arg2479Ter)
NM_015512.5(DNAH1):c.7443G>C (p.Val2481=)
NM_015512.5(DNAH1):c.7447G>A (p.Glu2483Lys)
NM_015512.5(DNAH1):c.7456C>A (p.Arg2486Ser) rs755633690
NM_015512.5(DNAH1):c.7456C>T (p.Arg2486Cys)
NM_015512.5(DNAH1):c.7513A>C (p.Asn2505His)
NM_015512.5(DNAH1):c.752A>G (p.Glu251Gly)
NM_015512.5(DNAH1):c.7559C>G (p.Ser2520Ter)
NM_015512.5(DNAH1):c.7584C>T (p.Tyr2528=)
NM_015512.5(DNAH1):c.7608+18G>A
NM_015512.5(DNAH1):c.7608+18G>T rs745933699
NM_015512.5(DNAH1):c.7608+19C>T
NM_015512.5(DNAH1):c.7608+9C>T
NM_015512.5(DNAH1):c.7609-15C>G
NM_015512.5(DNAH1):c.7609-15C>T
NM_015512.5(DNAH1):c.7609-4A>C
NM_015512.5(DNAH1):c.7617G>A (p.Gln2539=)
NM_015512.5(DNAH1):c.7618G>A (p.Val2540Met) rs372646577
NM_015512.5(DNAH1):c.7633A>G (p.Ile2545Val)
NM_015512.5(DNAH1):c.7658C>T (p.Thr2553Met)
NM_015512.5(DNAH1):c.7659G>A (p.Thr2553=)
NM_015512.5(DNAH1):c.7665G>A (p.Lys2555=)
NM_015512.5(DNAH1):c.7666C>T (p.Leu2556=) rs1289997241
NM_015512.5(DNAH1):c.766C>T (p.Arg256Trp)
NM_015512.5(DNAH1):c.7719C>T (p.Arg2573=) rs2153225157
NM_015512.5(DNAH1):c.7736T>C (p.Leu2579Pro)
NM_015512.5(DNAH1):c.773C>T (p.Pro258Leu)
NM_015512.5(DNAH1):c.7745C>T (p.Ala2582Val)
NM_015512.5(DNAH1):c.7747C>G (p.Leu2583Val) rs1578180369
NM_015512.5(DNAH1):c.7748T>A (p.Leu2583His)
NM_015512.5(DNAH1):c.7750C>T (p.Leu2584=)
NM_015512.5(DNAH1):c.7755G>A (p.Leu2585=)
NM_015512.5(DNAH1):c.7767C>T (p.Gly2589=)
NM_015512.5(DNAH1):c.7774C>G (p.Arg2592Gly) rs983098291
NM_015512.5(DNAH1):c.7795G>A (p.Ala2599Thr) rs377213436
NM_015512.5(DNAH1):c.7795G>T (p.Ala2599Ser) rs377213436
NM_015512.5(DNAH1):c.7799C>T (p.Ser2600Leu)
NM_015512.5(DNAH1):c.7800G>A (p.Ser2600=)
NM_015512.5(DNAH1):c.7804A>G (p.Met2602Val) rs1461371514
NM_015512.5(DNAH1):c.7805+12_7805+13inv
NM_015512.5(DNAH1):c.7805+15G>A
NM_015512.5(DNAH1):c.7805+16G>A
NM_015512.5(DNAH1):c.7805+18G>A
NM_015512.5(DNAH1):c.7805+19del
NM_015512.5(DNAH1):c.7805+1G>A
NM_015512.5(DNAH1):c.7805+7G>A
NM_015512.5(DNAH1):c.7805+7G>C
NM_015512.5(DNAH1):c.7805+9C>T rs2153225168
NM_015512.5(DNAH1):c.7806-10C>T
NM_015512.5(DNAH1):c.7806-18C>T
NM_015512.5(DNAH1):c.7806-7C>T
NM_015512.5(DNAH1):c.7806-9T>C
NM_015512.5(DNAH1):c.7809C>G (p.Ala2603=)
NM_015512.5(DNAH1):c.7810G>A (p.Glu2604Lys)
NM_015512.5(DNAH1):c.7815C>T (p.Tyr2605=)
NM_015512.5(DNAH1):c.7824C>T (p.Phe2608=)
NM_015512.5(DNAH1):c.7828A>G (p.Ile2610Val)
NM_015512.5(DNAH1):c.7833A>C (p.Glu2611Asp)
NM_015512.5(DNAH1):c.7857C>G (p.Ser2619=)
NM_015512.5(DNAH1):c.7858G>A (p.Glu2620Lys)
NM_015512.5(DNAH1):c.7859A>G (p.Glu2620Gly) rs865882866
NM_015512.5(DNAH1):c.7902A>C (p.Leu2634=) rs1305313888
NM_015512.5(DNAH1):c.7905G>C (p.Gln2635His) rs1703891928
NM_015512.5(DNAH1):c.7915A>C (p.Ile2639Leu)
NM_015512.5(DNAH1):c.7920C>G (p.Thr2640=)
NM_015512.5(DNAH1):c.7932A>G (p.Ser2644=)
NM_015512.5(DNAH1):c.7941+12A>C
NM_015512.5(DNAH1):c.7941+19A>G rs1703897518
NM_015512.5(DNAH1):c.7941+7C>T rs1445414596
NM_015512.5(DNAH1):c.7942-9C>T
NM_015512.5(DNAH1):c.7950C>T (p.Asn2650=)
NM_015512.5(DNAH1):c.7959C>T (p.Phe2653=)
NM_015512.5(DNAH1):c.7973A>G (p.Asn2658Ser)
NM_015512.5(DNAH1):c.7974C>T (p.Asn2658=)
NM_015512.5(DNAH1):c.797T>C (p.Leu266Ser)
NM_015512.5(DNAH1):c.7981C>T (p.Leu2661=)
NM_015512.5(DNAH1):c.8016G>A (p.Ala2672=)
NM_015512.5(DNAH1):c.8016G>T (p.Ala2672=) rs534846709
NM_015512.5(DNAH1):c.801G>A (p.Glu267=)
NM_015512.5(DNAH1):c.8032A>C (p.Ile2678Leu)
NM_015512.5(DNAH1):c.8079C>T (p.Pro2693=)
NM_015512.5(DNAH1):c.8099C>G (p.Ala2700Gly) rs776888791
NM_015512.5(DNAH1):c.8103T>G (p.Ala2701=)
NM_015512.5(DNAH1):c.8113C>G (p.Arg2705Gly)
NM_015512.5(DNAH1):c.8127C>T (p.Asn2709=)
NM_015512.5(DNAH1):c.8133C>T (p.His2711=)
NM_015512.5(DNAH1):c.8140C>T (p.Leu2714=)
NM_015512.5(DNAH1):c.8150+11C>T
NM_015512.5(DNAH1):c.8150+16G>A
NM_015512.5(DNAH1):c.8170C>T (p.Arg2724Ter)
NM_015512.5(DNAH1):c.8173G>C (p.Ala2725Pro)
NM_015512.5(DNAH1):c.8186A>G (p.Gln2729Arg)
NM_015512.5(DNAH1):c.8191C>G (p.Pro2731Ala)
NM_015512.5(DNAH1):c.8205C>T (p.Asn2735=)
NM_015512.5(DNAH1):c.8208C>T (p.Cys2736=)
NM_015512.5(DNAH1):c.8230G>A (p.Glu2744Lys) rs761944371
NM_015512.5(DNAH1):c.8238G>A (p.Pro2746=)
NM_015512.5(DNAH1):c.8246C>T (p.Ala2749Val) rs373270594
NM_015512.5(DNAH1):c.8253G>A (p.Lys2751=)
NM_015512.5(DNAH1):c.8265C>T (p.Thr2755=)
NM_015512.5(DNAH1):c.8311A>G (p.Ile2771Val)
NM_015512.5(DNAH1):c.8315A>G (p.Gln2772Arg) rs1703985238
NM_015512.5(DNAH1):c.8322+14T>C
NM_015512.5(DNAH1):c.8323-5C>A
NM_015512.5(DNAH1):c.8333G>A (p.Cys2778Tyr) rs1176704045
NM_015512.5(DNAH1):c.8334T>C (p.Cys2778=)
NM_015512.5(DNAH1):c.8360A>C (p.Lys2787Thr)
NM_015512.5(DNAH1):c.8360A>G (p.Lys2787Arg)
NM_015512.5(DNAH1):c.8409C>A (p.Thr2803=) rs1578186240
NM_015512.5(DNAH1):c.8412dup (p.Lys2805fs)
NM_015512.5(DNAH1):c.8435A>G (p.His2812Arg)
NM_015512.5(DNAH1):c.8460G>A (p.Gln2820=) rs1704033166
NM_015512.5(DNAH1):c.8463G>C (p.Lys2821Asn)
NM_015512.5(DNAH1):c.8502C>T (p.Ser2834=)
NM_015512.5(DNAH1):c.8507T>G (p.Leu2836Arg)
NM_015512.5(DNAH1):c.8515-16C>G
NM_015512.5(DNAH1):c.8515C>G (p.Leu2839Val)
NM_015512.5(DNAH1):c.8567T>A (p.Met2856Lys) rs1265332312
NM_015512.5(DNAH1):c.856G>A (p.Asp286Asn) rs762043332
NM_015512.5(DNAH1):c.8577G>A (p.Leu2859=)
NM_015512.5(DNAH1):c.8587del (p.Ala2863fs)
NM_015512.5(DNAH1):c.8605C>T (p.Leu2869Phe)
NM_015512.5(DNAH1):c.8617C>G (p.Gln2873Glu) rs2153225318
NM_015512.5(DNAH1):c.8625+14C>T
NM_015512.5(DNAH1):c.8625+19C>G
NM_015512.5(DNAH1):c.8625+7del rs1196963237
NM_015512.5(DNAH1):c.8626-15G>T
NM_015512.5(DNAH1):c.8626-17A>G
NM_015512.5(DNAH1):c.8626-1G>A rs1131692250
NM_015512.5(DNAH1):c.8626-1G>C
NM_015512.5(DNAH1):c.8626-20C>A
NM_015512.5(DNAH1):c.8626-8A>G
NM_015512.5(DNAH1):c.8626G>C (p.Val2876Leu)
NM_015512.5(DNAH1):c.8634G>A (p.Thr2878=)
NM_015512.5(DNAH1):c.8641G>A (p.Ala2881Thr) rs370257194
NM_015512.5(DNAH1):c.8641G>T (p.Ala2881Ser) rs370257194
NM_015512.5(DNAH1):c.8653C>T (p.Arg2885Trp)
NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)
NM_015512.5(DNAH1):c.8678T>C (p.Ile2893Thr)
NM_015512.5(DNAH1):c.867G>T (p.Gly289=)
NM_015512.5(DNAH1):c.8705C>T (p.Ala2902Val)
NM_015512.5(DNAH1):c.871+20A>G
NM_015512.5(DNAH1):c.8718T>C (p.Ala2906=)
NM_015512.5(DNAH1):c.872-19G>A
NM_015512.5(DNAH1):c.872-2A>G
NM_015512.5(DNAH1):c.8721C>T (p.Asp2907=)
NM_015512.5(DNAH1):c.8742C>T (p.Asp2914=)
NM_015512.5(DNAH1):c.8766G>A (p.Ala2922=)
NM_015512.5(DNAH1):c.8768C>G (p.Ala2923Gly) rs749858455
NM_015512.5(DNAH1):c.8782C>G (p.Arg2928Gly)
NM_015512.5(DNAH1):c.8782C>T (p.Arg2928Cys) rs772814823
NM_015512.5(DNAH1):c.8808C>T (p.Thr2936=)
NM_015512.5(DNAH1):c.8811+4G>A
NM_015512.5(DNAH1):c.8811+9C>T
NM_015512.5(DNAH1):c.8819C>T (p.Ala2940Val) rs1402907319
NM_015512.5(DNAH1):c.8842G>A (p.Val2948Met)
NM_015512.5(DNAH1):c.8853C>T (p.Val2951=)
NM_015512.5(DNAH1):c.8867G>A (p.Cys2956Tyr) rs1578189986
NM_015512.5(DNAH1):c.8877A>G (p.Lys2959=) rs1553641002
NM_015512.5(DNAH1):c.8879G>C (p.Gly2960Ala) rs780656736
NM_015512.5(DNAH1):c.887A>G (p.Gln296Arg)
NM_015512.5(DNAH1):c.8881A>G (p.Ile2961Val)
NM_015512.5(DNAH1):c.888G>A (p.Gln296=)
NM_015512.5(DNAH1):c.8907A>G (p.Glu2969=)
NM_015512.5(DNAH1):c.892C>T (p.Leu298=)
NM_015512.5(DNAH1):c.893T>G (p.Leu298Arg)
NM_015512.5(DNAH1):c.8966C>T (p.Pro2989Leu)
NM_015512.5(DNAH1):c.8968G>A (p.Gly2990Ser) rs2153225369
NM_015512.5(DNAH1):c.897G>A (p.Lys299=) rs1476328053
NM_015512.5(DNAH1):c.8984G>C (p.Ser2995Thr)
NM_015512.5(DNAH1):c.9000C>T (p.Asp3000=)
NM_015512.5(DNAH1):c.9003+14G>A
NM_015512.5(DNAH1):c.9003+9G>A rs1484966451
NM_015512.5(DNAH1):c.9004-12T>G
NM_015512.5(DNAH1):c.9004-17C>T
NM_015512.5(DNAH1):c.9011T>C (p.Ile3004Thr)
NM_015512.5(DNAH1):c.9021G>A (p.Val3007=)
NM_015512.5(DNAH1):c.9023T>C (p.Val3008Ala)
NM_015512.5(DNAH1):c.9024G>A (p.Val3008=)
NM_015512.5(DNAH1):c.9041C>T (p.Pro3014Leu)
NM_015512.5(DNAH1):c.9043T>C (p.Tyr3015His) rs998821696
NM_015512.5(DNAH1):c.9054T>G (p.Asn3018Lys)
NM_015512.5(DNAH1):c.9083A>G (p.Lys3028Arg) rs1704196167
NM_015512.5(DNAH1):c.9084G>A (p.Lys3028=)
NM_015512.5(DNAH1):c.9090C>T (p.Ser3030=)
NM_015512.5(DNAH1):c.9099C>T (p.Cys3033=)
NM_015512.5(DNAH1):c.909C>T (p.Cys303=)
NM_015512.5(DNAH1):c.9118G>T (p.Val3040Leu)
NM_015512.5(DNAH1):c.9120G>A (p.Val3040=)
NM_015512.5(DNAH1):c.9126C>T (p.Ala3042=)
NM_015512.5(DNAH1):c.9143T>A (p.Phe3048Tyr)
NM_015512.5(DNAH1):c.9144T>C (p.Phe3048=)
NM_015512.5(DNAH1):c.9156C>T (p.Ala3052=)
NM_015512.5(DNAH1):c.9157G>A (p.Val3053Met) rs781056727
NM_015512.5(DNAH1):c.9169C>A (p.Arg3057=)
NM_015512.5(DNAH1):c.916G>A (p.Gly306Ser)
NM_015512.5(DNAH1):c.9170G>A (p.Arg3057Gln)
NM_015512.5(DNAH1):c.9172-17C>T
NM_015512.5(DNAH1):c.9172-19T>C rs2153225442
NM_015512.5(DNAH1):c.9172-4dup
NM_015512.5(DNAH1):c.9172-7C>T rs2153225443
NM_015512.5(DNAH1):c.9172-9G>A
NM_015512.5(DNAH1):c.9184G>C (p.Glu3062Gln) rs1578193025
NM_015512.5(DNAH1):c.9244C>G (p.Arg3082Gly) rs781114057
NM_015512.5(DNAH1):c.9259G>A (p.Gly3087Ser)
NM_015512.5(DNAH1):c.9267C>G (p.Ala3089=)
NM_015512.5(DNAH1):c.9306G>A (p.Lys3102=)
NM_015512.5(DNAH1):c.930C>T (p.Tyr310=) rs1039248425
NM_015512.5(DNAH1):c.9313C>T (p.Leu3105=)
NM_015512.5(DNAH1):c.9318G>A (p.Glu3106=)
NM_015512.5(DNAH1):c.9324G>A (p.Lys3108=)
NM_015512.5(DNAH1):c.9342G>A (p.Gln3114=)
NM_015512.5(DNAH1):c.934GAG[1] (p.Glu313del)
NM_015512.5(DNAH1):c.9363+7A>G
NM_015512.5(DNAH1):c.9364-13G>A
NM_015512.5(DNAH1):c.9364-6C>T rs1553641484
NM_015512.5(DNAH1):c.9372C>T (p.Asn3124=)
NM_015512.5(DNAH1):c.9373G>A (p.Gly3125Arg) rs374687152
NM_015512.5(DNAH1):c.9378G>A (p.Leu3126=)
NM_015512.5(DNAH1):c.9380C>A (p.Ser3127Ter)
NM_015512.5(DNAH1):c.9381G>A (p.Ser3127=)
NM_015512.5(DNAH1):c.9389A>G (p.Lys3130Arg)
NM_015512.5(DNAH1):c.9391G>A (p.Val3131Met)
NM_015512.5(DNAH1):c.9393G>A (p.Val3131=)
NM_015512.5(DNAH1):c.9394C>G (p.Arg3132Gly) rs750820564
NM_015512.5(DNAH1):c.9395G>A (p.Arg3132His)
NM_015512.5(DNAH1):c.9407C>T (p.Thr3136Met)
NM_015512.5(DNAH1):c.9427A>G (p.Met3143Val) rs201358297
NM_015512.5(DNAH1):c.9428T>C (p.Met3143Thr)
NM_015512.5(DNAH1):c.9441C>G (p.Ile3147Met) rs1402657419
NM_015512.5(DNAH1):c.9447C>T (p.Gly3149=)
NM_015512.5(DNAH1):c.9450T>C (p.Asp3150=)
NM_015512.5(DNAH1):c.9454C>G (p.Leu3152Val)
NM_015512.5(DNAH1):c.9454C>T (p.Leu3152=)
NM_015512.5(DNAH1):c.9459G>T (p.Val3153=)
NM_015512.5(DNAH1):c.9462C>T (p.Ala3154=)
NM_015512.5(DNAH1):c.9468C>T (p.Gly3156=)
NM_015512.5(DNAH1):c.947T>A (p.Leu316Gln)
NM_015512.5(DNAH1):c.9492C>G (p.Phe3164Leu)
NM_015512.5(DNAH1):c.9494C>T (p.Thr3165Met)
NM_015512.5(DNAH1):c.9495+10C>T
NM_015512.5(DNAH1):c.9495+13dup rs1157020793
NM_015512.5(DNAH1):c.9495+16C>A
NM_015512.5(DNAH1):c.9495G>A (p.Thr3165=)
NM_015512.5(DNAH1):c.9496-17G>C
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly) rs185305129
NM_015512.5(DNAH1):c.9505C>T (p.Arg3169Cys) rs185305129
NM_015512.5(DNAH1):c.9510G>A (p.Thr3170=)
NM_015512.5(DNAH1):c.9510G>C (p.Thr3170=)
NM_015512.5(DNAH1):c.9516C>G (p.Leu3172=)
NM_015512.5(DNAH1):c.9520G>A (p.Asp3174Asn)
NM_015512.5(DNAH1):c.9540C>T (p.Leu3180=)
NM_015512.5(DNAH1):c.9567C>T (p.Ser3189=)
NM_015512.5(DNAH1):c.9576G>A (p.Thr3192=)
NM_015512.5(DNAH1):c.9582C>T (p.Ile3194=)
NM_015512.5(DNAH1):c.9583G>A (p.Gly3195Arg)
NM_015512.5(DNAH1):c.9615G>A (p.Ser3205=)
NM_015512.5(DNAH1):c.9615G>T (p.Ser3205=)
NM_015512.5(DNAH1):c.9621+11C>T
NM_015512.5(DNAH1):c.9621+19G>A
NM_015512.5(DNAH1):c.9621+1G>T
NM_015512.5(DNAH1):c.9621+8C>T rs1704281395
NM_015512.5(DNAH1):c.9622-18G>A
NM_015512.5(DNAH1):c.9622-3_9622-2del
NM_015512.5(DNAH1):c.9622-9T>A rs917308035
NM_015512.5(DNAH1):c.9623_9624del (p.Ile3208fs)
NM_015512.5(DNAH1):c.9640G>A (p.Asp3214Asn)
NM_015512.5(DNAH1):c.9648G>C (p.Leu3216=)
NM_015512.5(DNAH1):c.9648G>T (p.Leu3216=)
NM_015512.5(DNAH1):c.9655G>A (p.Glu3219Lys)
NM_015512.5(DNAH1):c.9669C>T (p.Ile3223=) rs1294741438
NM_015512.5(DNAH1):c.9675G>T (p.Gln3225His)
NM_015512.5(DNAH1):c.9700A>G (p.Ile3234Val) rs1704350768
NM_015512.5(DNAH1):c.9723C>A (p.Asn3241Lys) rs1704351714
NM_015512.5(DNAH1):c.9741+12C>A
NM_015512.5(DNAH1):c.9741+15C>T
NM_015512.5(DNAH1):c.9742-20C>T
NM_015512.5(DNAH1):c.9747G>A (p.Lys3249=) rs2153225555
NM_015512.5(DNAH1):c.9752A>G (p.Asn3251Ser)
NM_015512.5(DNAH1):c.9793C>T (p.Arg3265Cys) rs368568444
NM_015512.5(DNAH1):c.9815G>A (p.Arg3272His)
NM_015512.5(DNAH1):c.9826C>A (p.Pro3276Thr)
NM_015512.5(DNAH1):c.9841A>G (p.Asn3281Asp) rs756243834
NM_015512.5(DNAH1):c.9844G>A (p.Val3282Met)
NM_015512.5(DNAH1):c.9849C>T (p.Gly3283=) rs749552811
NM_015512.5(DNAH1):c.9853G>A (p.Glu3285Lys)
NM_015512.5(DNAH1):c.9859G>C (p.Asp3287His) rs2153225560
NM_015512.5(DNAH1):c.986G>T (p.Arg329Leu)
NM_015512.5(DNAH1):c.9882G>A (p.Leu3294=)
NM_015512.5(DNAH1):c.9891+9G>T
NM_015512.5(DNAH1):c.9894G>A (p.Thr3298=)
NM_015512.5(DNAH1):c.9908G>A (p.Gly3303Glu)
NM_015512.5(DNAH1):c.9914C>A (p.Thr3305Lys) rs369765657
NM_015512.5(DNAH1):c.9915G>C (p.Thr3305=)
NM_015512.5(DNAH1):c.9918G>A (p.Val3306=)
NM_015512.5(DNAH1):c.9925C>T (p.Leu3309=)
NM_015512.5(DNAH1):c.9926T>G (p.Leu3309Arg) rs2153225570
NM_015512.5(DNAH1):c.9936G>A (p.Thr3312=)
NM_015512.5(DNAH1):c.9972C>T (p.Ile3324=)
NM_015512.5(DNAH1):c.9995A>T (p.His3332Leu)
NM_015512.5(DNAH1):c.999G>A (p.Gly333=)
NM_015585.4(CFAP61):c.143+5G>A
NM_015585.4(CFAP61):c.144-2A>G
NM_015585.4(CFAP61):c.1654C>T (p.Arg552Cys)
NM_015585.4(CFAP61):c.1666G>A (p.Gly556Arg)
NM_015585.4(CFAP61):c.2911G>A (p.Asp971Asn)
NM_015585.4(CFAP61):c.452_453del (p.Ile151fs)
NM_015585.4(CFAP61):c.847C>T (p.Arg283Ter)
NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser) rs1566684983
NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro) rs754106837
NM_017917.4(PPP2R3C):c.841del (p.Gln281fs)
NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu) rs2038463011
NM_018068.5(PIWIL2):c.1697G>A (p.Arg566His)
NM_018068.5(PIWIL2):c.839A>C (p.Tyr280Ser)
NM_018076.5(ODAD2):c.2097+1G>A rs149368374
NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu) rs1564439559
NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter) rs1000089911
NM_018995.3(MOV10L1):c.2179+3A>G
NM_018995.3(MOV10L1):c.2258T>C (p.Val753Ala)
NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile) rs1479684172
NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs) rs2147023849
NM_018995.3(MOV10L1):c.3115G>A (p.Glu1039Lys)
NM_018995.3(MOV10L1):c.3268G>T (p.Val1090Phe)
NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg) rs1555979575
NM_020877.5(DNAH2):c.11500C>T (p.Arg3834Ter) rs369801878
NM_020877.5(DNAH2):c.11644C>T (p.Arg3882Ter)
NM_020877.5(DNAH2):c.4597C>T (p.Arg1533Cys)
NM_020877.5(DNAH2):c.4701G>T (p.Lys1567Asn)
NM_020877.5(DNAH2):c.7145+1G>A
NM_020877.5(DNAH2):c.8263C>T (p.Arg2755Trp) rs143616651
NM_020877.5(DNAH2):c.9298C>T (p.Arg3100Trp) rs201414958
NM_020879.3(CCDC146):c.1084C>T (p.Arg362Ter)
NM_020879.3(CCDC146):c.2112del (p.Arg704fs)
NM_020937.4(FANCM):c.1057CAA[1] (p.Gln354del)
NM_020937.4(FANCM):c.1105C>T (p.His369Tyr)
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) rs1887060432
NM_020937.4(FANCM):c.1310-17T>G
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) rs771036341
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1408A>G (p.Thr470Ala)
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) rs1887398867
NM_020937.4(FANCM):c.1618C>A (p.Leu540Met)
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) rs1255434449
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) rs866897480
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) rs1388696715
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) rs1887827994
NM_020937.4(FANCM):c.1759A>G (p.Ile587Val)
NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs) rs1555363275
NM_020937.4(FANCM):c.2095G>T (p.Glu699Ter) rs1888281367
NM_020937.4(FANCM):c.2177C>A (p.Thr726Asn)
NM_020937.4(FANCM):c.2190A>T (p.Gln730His) rs117392855
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) rs142763060
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) rs1181869875
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2394G>C (p.Arg798Ser)
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) rs2139242067
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.263A>G (p.Asn88Ser) rs1566716433
NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
NM_020937.4(FANCM):c.2956del (p.Val986fs)
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) rs776989238
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3338A>G (p.Glu1113Gly)
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) rs372276411
NM_020937.4(FANCM):c.3644A>C (p.Lys1215Thr)
NM_020937.4(FANCM):c.3677del (p.Asp1226fs)
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) rs1566765698
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys) rs2139099472
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) rs1312125043
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) rs758891745
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) rs1369746830
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) rs139382920
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4336G>A (p.Val1446Ile)
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu) rs78211950
NM_020937.4(FANCM):c.4387-10A>G rs1555365959
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.4597G>A (p.Glu1533Lys) rs756040772
NM_020937.4(FANCM):c.4637_4638insCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Leu1546delinsPheIleThrTer)
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) rs932577451
NM_020937.4(FANCM):c.4641del (p.Asn1547fs) rs1889334318
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) rs1889498706
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) rs1889499436
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile) rs773152045
NM_020937.4(FANCM):c.4780-4G>C rs1486453187
NM_020937.4(FANCM):c.480C>T (p.Ile160=) rs753171718
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) rs2139296568
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) rs367653310
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) rs540327722
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) rs747356020
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5348G>T (p.Ser1783Ile)
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.5538A>C (p.Glu1846Asp) rs1416312500
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys) rs1441113303
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) rs769106934
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) rs760258217
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) rs770012987
NM_020937.4(FANCM):c.681+4A>T
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.759G>A (p.Lys253=)
NM_020937.4(FANCM):c.760-2A>G
NM_020937.4(FANCM):c.809G>C (p.Arg270Pro)
NM_020937.4(FANCM):c.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
NM_020937.4(FANCM):c.876G>A (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) rs372710600
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) rs1886810472
NM_021118.3(CYLC1):c.1377G>T (p.Lys459Asn)
NM_022052.2(NXF3):c.826G>T (p.Gly276Ter)
NM_024415.3(DDX4):c.1532C>T (p.Ala511Val)
NM_024764.4(CATSPERB):c.2126G>A (p.Arg709Gln)
NM_024867.4(SPEF2):c.1379A>G (p.His460Arg)
NM_024867.4(SPEF2):c.13del (p.Leu5fs) rs1391102782
NM_024867.4(SPEF2):c.2203C>T (p.Gln735Ter)
NM_024867.4(SPEF2):c.2735del (p.Pro912fs) rs1580383744
NM_024867.4(SPEF2):c.3063G>C (p.Glu1021Asp)
NM_024867.4(SPEF2):c.3240del (p.Phe1080fs) rs1580529760
NM_024867.4(SPEF2):c.4326dup (p.Val1443fs) rs1580704451
NM_024867.4(SPEF2):c.4952del (p.Val1651fs) rs1580783651
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser) rs2131525662
NM_025132.4(WDR19):c.1134+1G>A
NM_025132.4(WDR19):c.1135-2A>G
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)
NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) rs539621646
NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)
NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)
NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)
NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)
NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)
NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
NM_025132.4(WDR19):c.165T>G (p.Gly55=)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.180G>A (p.Met60Ile)
NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)
NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)
NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)
NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)
NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)
NM_025132.4(WDR19):c.235A>G (p.Ile79Val)
NM_025132.4(WDR19):c.2364-13_2364-9del
NM_025132.4(WDR19):c.2364-2del
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2421+5C>T
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2491del (p.Val831fs)
NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)
NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)
NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)
NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)
NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
NM_025132.4(WDR19):c.2730-1G>A
NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)
NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.2877-13T>C
NM_025132.4(WDR19):c.291-2A>G
NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) rs1381726098
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
NM_025132.4(WDR19):c.3184-12C>A
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3193G>A (p.Ala1065Thr)
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3359G>T (p.Gly1120Val)
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3483+19C>G
NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3547A>T (p.Ile1183Phe)
NM_025132.4(WDR19):c.3548T>C (p.Ile1183Thr)
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3655A>G (p.Arg1219Gly)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.377A>G (p.His126Arg)
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
NM_025132.4(WDR19):c.3811A>G (p.Lys1271Glu) rs2109521864
NM_025132.4(WDR19):c.3917+6T>C
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)
NM_025132.4(WDR19):c.406+1G>T
NM_025132.4(WDR19):c.406+5_406+11del
NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)
NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)
NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)
NM_025132.4(WDR19):c.467G>T (p.Gly156Val)
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.523-1G>C
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)
NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.670G>C (p.Asp224His)
NM_025132.4(WDR19):c.717-1G>A
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.821A>G (p.His274Arg)
NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)
NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025132.4(WDR19):c.98+1G>A
NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs) rs753300178
NM_025145.7(CFAP43):c.1302dup (p.Leu435fs) rs1554882484
NM_025145.7(CFAP43):c.2802T>A (p.Cys934Ter) rs373911488
NM_025145.7(CFAP43):c.3101A>C (p.Lys1034Thr)
NM_025145.7(CFAP43):c.3541-2A>C rs1554862953
NM_025145.7(CFAP43):c.3661-2del rs1554861288
NM_025145.7(CFAP43):c.386C>A (p.Ser129Tyr) rs1131692266
NM_025145.7(CFAP43):c.3945-263_4431+252del
NM_030771.2(CCDC34):c.731dup (p.Asn244fs)
NM_030771.2(CCDC34):c.799_817del (p.Glu267fs)
NM_030960.3(SPACA1):c.53G>A (p.Trp18Ter)
NM_031272.5(TEX14):c.191C>T (p.Ala64Val)
NM_031272.5(TEX14):c.2576+2T>G
NM_031272.5(TEX14):c.2650_2660del (p.Ser884fs) rs1555568575
NM_031272.5(TEX14):c.2678C>G (p.Pro893Arg)
NM_031272.5(TEX14):c.3652A>T (p.Arg1218Ter)
NM_031276.3(TEX11):c.1008dup (p.Ser337fs)
NM_031276.3(TEX11):c.1200G>A (p.Trp400Ter)
NM_031276.3(TEX11):c.1792+1G>C
NM_031276.3(TEX11):c.37+10228del
NM_031276.3(TEX11):c.686G>A (p.Trp229Ter)
NM_031276.3(TEX11):c.747+1G>A
NM_031293.3(PMFBP1):c.1009G>A (p.Glu337Lys)
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter) rs777263062
NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter)
NM_031293.3(PMFBP1):c.2092del (p.Ala698fs) rs1567621034
NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs) rs769554360
NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs) rs772371753
NM_031293.3(PMFBP1):c.2769-12T>A
NM_031293.3(PMFBP1):c.361C>T (p.Gln121Ter)
NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)
NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)
NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)
NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)
NM_031907.3(USP26):c.1205A>C (p.Asn402Thr)
NM_031907.3(USP26):c.125T>C (p.Phe42Ser)
NM_031907.3(USP26):c.2396A>G (p.Asn799Ser)
NM_031907.3(USP26):c.2473C>G (p.Arg825Gly)
NM_031955.6(SPATA16):c.*138C>A rs903704544
NM_031955.6(SPATA16):c.-2C>T rs1737947552
NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn) rs763912965
NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly) rs886058186
NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg) rs1732489716
NM_031955.6(SPATA16):c.430A>G (p.Met144Val) rs140920981
NM_031955.6(SPATA16):c.787C>T (p.Arg263Trp)
NM_031955.6(SPATA16):c.848+15del rs143941722
NM_031956.4(TTC29):c.*334G>A rs1579486914
NM_031956.4(TTC29):c.1107C>G (p.Tyr369Ter) rs1489738488
NM_031956.4(TTC29):c.412_425del (p.Asp138fs) rs1579951018
NM_031956.4(TTC29):c.750C>A (p.Tyr250Ter) rs763399136
NM_031956.4(TTC29):c.977+1G>T rs1579787268
NM_032018.7(SPRTN):c.1246_1247del (p.Val416fs)
NM_032131.6(ARMC2):c.1023+1G>A rs1562372417
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) rs1562381747
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) rs1562435988
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) rs1562436860
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) rs1562332833
NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter)
NM_032485.6(MCM8):c.482A>C (p.His161Pro) rs140044814
NM_032858.3(MAEL):c.799C>T (p.Arg267Ter)
NM_032858.3(MAEL):c.908+1G>C
NM_033123.4(PLCZ1):c.1048T>C (p.Ser350Pro) rs1955655663
NM_033123.4(PLCZ1):c.1174+3A>C
NM_033123.4(PLCZ1):c.1251T>A (p.Asn417Lys)
NM_033123.4(PLCZ1):c.1274A>G (p.Asn425Ser)
NM_033123.4(PLCZ1):c.1358G>A (p.Gly453Asp)
NM_033123.4(PLCZ1):c.136-1G>C
NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe) rs757326350
NM_033123.4(PLCZ1):c.736C>T (p.Leu246Phe) rs1956460756
NM_033364.4(CFAP91):c.1633C>T (p.Gln545Ter)
NM_033364.4(CFAP91):c.682+1G>A rs147597066
NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser) rs2146693248
NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) rs2146817189
NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter) rs2147729149
NM_052957.5(GCNA):c.1507del (p.Glu504fs) rs2147732931
NM_052957.5(GCNA):c.343del (p.Ala115fs) rs2147727146
NM_052957.5(GCNA):c.653_654delinsGC (p.Lys218Ser) rs2147728009
NM_052961.4(SLC26A8):c.1639-2A>G
NM_052961.4(SLC26A8):c.1664del (p.Ile555fs) rs2127298549
NM_052961.4(SLC26A8):c.2031T>G (p.Tyr677Ter)
NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu) rs116146081
NM_053054.3(CATSPER1):c.-136G>A rs985258932
NM_053054.4(CATSPER1):c.*122AG[1] rs764701805
NM_053054.4(CATSPER1):c.*63G>A rs955432976
NM_053054.4(CATSPER1):c.-23del rs886048524
NM_053054.4(CATSPER1):c.-25del rs3841469
NM_053054.4(CATSPER1):c.1045T>G (p.Phe349Val) rs754953178
NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg) rs886048522
NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile) rs768194764
NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr) rs886048521
NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=) rs886048520
NM_053054.4(CATSPER1):c.216C>T (p.Ser72=) rs753646396
NM_053054.4(CATSPER1):c.2202-8A>C rs1326391621
NM_053054.4(CATSPER1):c.310G>A (p.Ala104Thr) rs552868982
NM_053054.4(CATSPER1):c.504C>T (p.His168=) rs886048523
NM_053054.4(CATSPER1):c.539dup (p.His182fs) rs193929390
NM_053054.4(CATSPER1):c.859_860del (p.Gln287fs) rs1565074167
NM_053054.4(CATSPER1):c.889C>T (p.Arg297Ter)
NM_053054.4(CATSPER1):c.890G>A (p.Arg297Gln) rs370635615
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) rs193929391
NM_053054.4(CATSPER1):c.945T>A (p.His315Gln) rs950065711
NM_080675.4(SUN5):c.381del (p.Val128fs) rs781693813
NM_080675.4(SUN5):c.485T>A (p.Met162Lys) rs886041023
NM_080675.4(SUN5):c.781G>A (p.Val261Met) rs886041024
NM_080675.4(SUN5):c.851C>G (p.Ser284Ter) rs886041025
NM_080746.3(RPL10L):c.257A>C (p.His86Pro) rs1883886214
NM_138435.4(FAM83F):c.671G>A (p.Arg224His)
NM_144594.3(GTSF1):c.221_222del (p.Arg74fs)
NM_144594.3(GTSF1):c.97C>A (p.His33Asn)
NM_144605.5(SEPTIN12):c.905C>T (p.Thr302Ile)
NM_144666.3(DNHD1):c.10025G>A (p.Arg3342Gln)
NM_144666.3(DNHD1):c.12142C>T (p.Arg4048Ter)
NM_144666.3(DNHD1):c.1236-1G>A
NM_144666.3(DNHD1):c.12453G>A (p.Trp4151Ter) rs2134462764
NM_144666.3(DNHD1):c.12473A>G (p.His4158Arg) rs2134462807
NM_144666.3(DNHD1):c.13001del (p.Glu4334fs)
NM_144666.3(DNHD1):c.3099C>T (p.Ser1033=)
NM_144666.3(DNHD1):c.3457G>T (p.Glu1153Ter)
NM_144666.3(DNHD1):c.522_525del (p.Arg174fs) rs756886777
NM_144666.3(DNHD1):c.5662C>T (p.Leu1888=)
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) rs61729699
NM_144666.3(DNHD1):c.7831C>T (p.Arg2611Ter)
NM_144666.3(DNHD1):c.8246T>C (p.Leu2749Pro)
NM_144668.6(CFAP251):c.123del (p.Asp42fs) rs749163856
NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) rs1565912409
NM_144668.6(CFAP251):c.1930_1931del (p.Arg644fs)
NM_144668.6(CFAP251):c.202del (p.Glu68fs)
NM_144668.6(CFAP251):c.3007-4915_3338-930del
NM_144688.5(KASH5):c.-95-2_798+248del
NM_144688.5(KASH5):c.1146+5G>A rs188572864
NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)
NM_144688.5(KASH5):c.1604T>A (p.Leu535Gln)
NM_144688.5(KASH5):c.302T>C (p.Met101Thr)
NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)
NM_144688.5(KASH5):c.981_982del (p.Arg327fs)
NM_144696.6(AXDND1):c.1607T>A (p.Leu536Gln)
NM_144696.6(AXDND1):c.2451A>C (p.Lys817Asn)
NM_144696.6(AXDND1):c.2602G>A (p.Ala868Thr)
NM_144696.6(AXDND1):c.2843A>G (p.Asp948Gly)
NM_145038.5(DRC1):c.1028G>C (p.Arg343Pro)
NM_145038.5(DRC1):c.1114G>A (p.Asp372Asn)
NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)
NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)
NM_145038.5(DRC1):c.797_801dup (p.Asp268Ter)
NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro) rs142778679
NM_145292.4(GALNTL5):c.153dup (p.Val52fs) rs746301883
NM_152327.5(AK7):c.1153A>T (p.Lys385Ter)
NM_152327.5(AK7):c.2018T>G (p.Leu673Arg) rs116298211
NM_152327.5(AK7):c.289T>C (p.Tyr97His)
NM_152401.3(PDCL2):c.128-1G>A
NM_152448.3(TERB2):c.457_458del (p.Thr153fs) rs2141244939
NM_152467.5(KLHL10):c.1014A>C (p.Lys338Asn)
NM_152467.5(KLHL10):c.1302+123_1302+126del rs534770865
NM_152657.4(GGN):c.1271del (p.Gly424fs) rs751658286
NM_152657.4(GGN):c.416_437del (p.Leu139fs) rs2145140504
NM_153046.3(TDRD9):c.1243G>T (p.Val415Phe)
NM_153046.3(TDRD9):c.1310G>T (p.Gly437Val)
NM_153046.3(TDRD9):c.2031_2032del (p.Glu679fs)
NM_153046.3(TDRD9):c.2106+2T>A rs2152222013
NM_153046.3(TDRD9):c.3148dup (p.Val1050fs)
NM_153046.3(TDRD9):c.3483_3484dup (p.Ser1162fs) rs2152252501
NM_153046.3(TDRD9):c.3716+3A>G
NM_153046.3(TDRD9):c.3826G>T (p.Val1276Phe)
NM_153046.3(TDRD9):c.46A>C (p.Ile16Leu) rs868220412
NM_153046.3(TDRD9):c.720_723del (p.Ser241fs) rs765353898
NM_172095.4(CATSPER2):c.842+1G>C rs199516208
NM_172166.4(MSH5):c.1857del (p.Ala620fs) rs1562249204
NM_172166.4(MSH5):c.75dup (p.Ser26fs) rs961633772
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer) rs767723684
NM_173628.4(DNAH17):c.2869G>T (p.Glu957Ter)
NM_173628.4(DNAH17):c.5408G>A (p.Cys1803Tyr) rs2146716548
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr) rs1598595659
NM_173628.4(DNAH17):c.5707C>T (p.Arg1903Cys) rs775503600
NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)
NM_173628.4(DNAH17):c.7144G>C (p.Glu2382Gln)
NM_173628.4(DNAH17):c.7752+2T>A
NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs) rs1598525781
NM_173628.4(DNAH17):c.8821C>T (p.Arg2941Ter)
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_173628.4(DNAH17):c.[11803C>T;6308C>T]
NM_173651.4(FSIP2):c.1041_1050del (p.Val346_Tyr347insTer)
NM_173651.4(FSIP2):c.10823T>C (p.Leu3608Ser)
NM_173651.4(FSIP2):c.11998G>A (p.Val4000Met)
NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs) rs1559024613
NM_173651.4(FSIP2):c.16393_16396del (p.Asn5465fs) rs1559034750
NM_173651.4(FSIP2):c.1660_1662dup (p.Asp554_Ser555insAsp)
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)
NM_173651.4(FSIP2):c.18448G>A (p.Val6150Ile)
NM_173651.4(FSIP2):c.19981C>T (p.Arg6661Ter)
NM_173651.4(FSIP2):c.2282dup (p.Asn761fs) rs1559025141
NM_173651.4(FSIP2):c.2680_2693del (p.Asn894fs)
NM_173651.4(FSIP2):c.2689del (p.Ser897fs)
NM_173651.4(FSIP2):c.5237AAG[1] (p.Glu1747del)
NM_173651.4(FSIP2):c.5480A>T (p.Asp1827Val)
NM_173651.4(FSIP2):c.6060del (p.Glu2021fs)
NM_173651.4(FSIP2):c.9056T>C (p.Ile3019Thr)
NM_173812.5(DPY19L2):c.1616A>G (p.His539Arg)
NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)
NM_174978.3(C14orf39):c.1180-3C>G rs1891315296
NM_174978.3(C14orf39):c.139_142del (p.Thr47fs)
NM_174978.3(C14orf39):c.204_205del (p.His68fs) rs1406759691
NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter) rs997282049
NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys) rs377581367
NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu) rs1478948010
NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu) rs532021673
NM_178525.5(ACTL9):c.1203_1222del (p.Glu401fs)
NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter) rs34687433
NM_178836.4(PLD6):c.1A>T (p.Met1Leu)
NM_178836.4(PLD6):c.469del (p.His157fs)
NM_182911.4(TSGA10):c.211del rs1553482689
NM_194302.4(CFAP65):c.1580del (p.Leu527fs) rs1574628422
NM_194302.4(CFAP65):c.1942C>T (p.Pro648Ser)
NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter) rs1457312523
NM_194302.4(CFAP65):c.4429C>T (p.Pro1477Ser)
NM_194302.4(CFAP65):c.464G>C (p.Gly155Ala)
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter) rs1269179049
NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln) rs1878524886
NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter) rs1877018344
NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_199461.4(NANOS1):c.373_387del (p.Ser125_Leu129del)
NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del) rs538539239
NM_201435.5(CCDC62):c.385G>C (p.Glu129Gln)
NM_201435.5(CCDC62):c.442C>T (p.Gln148Ter) rs1021793710
NUP210L, IVS5, G-A, -1
Single allele

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