ClinVar Miner

List of variants in gene DNAH5 studied for Primary ciliary dyskinesia 3

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ClinVar version:
Total variants: 979
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001369.3(DNAH5):c.277+118A>G rs12659700 0.74712
NM_001369.3(DNAH5):c.11761+93G>T rs6554808 0.60670
NM_001369.3(DNAH5):c.11762-45T>C rs3777093 0.60391
NM_001369.3(DNAH5):c.11570+35A>G rs3734109 0.57196
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_001369.3(DNAH5):c.*1048A>G rs2896111 0.49736
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_001369.3(DNAH5):c.13491+66T>C rs3734112 0.45951
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_001369.3(DNAH5):c.1320+269T>A rs12654693 0.43872
NM_001369.3(DNAH5):c.1198-45A>G rs13162553 0.43720
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_001369.3(DNAH5):c.1320+73T>C rs13179761 0.43433
NM_001369.3(DNAH5):c.1198-24C>A rs13180591 0.43394
NM_001369.3(DNAH5):c.3397-51T>C rs10513159 0.42101
NM_001369.3(DNAH5):c.6687+110A>G rs10035657 0.41260
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_001369.3(DNAH5):c.5710-58G>A rs9312849 0.40656
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40077
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001369.3(DNAH5):c.6842-78C>T rs6889720 0.39778
NM_001369.3(DNAH5):c.4054-59T>C rs11748811 0.39508
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001369.3(DNAH5):c.4796+41G>A rs7704417 0.39490
NM_001369.3(DNAH5):c.4053+64G>A rs1445810 0.39484
NM_001369.3(DNAH5):c.4796+57A>C rs7724453 0.39443
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_001369.3(DNAH5):c.4796+264A>C rs7724087 0.36921
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.35253
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34864
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.34761
NM_001369.3(DNAH5):c.5272-39T>A rs1910089 0.34183
NM_001369.3(DNAH5):c.5114+22A>T rs4701988 0.33456
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30805
NM_001369.3(DNAH5):c.3175-34G>A rs13170062 0.27467
NM_001369.3(DNAH5):c.1537-102T>A rs67065537 0.24800
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.24415
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001369.3(DNAH5):c.7230+32A>G rs56046501 0.23667
NM_001369.3(DNAH5):c.975+30A>C rs35925547 0.22429
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_001369.3(DNAH5):c.5271+72C>T rs16902837 0.18397
NM_001369.3(DNAH5):c.4053+32C>T rs13156044 0.12402
NM_001369.3(DNAH5):c.12034-24T>C rs17203442 0.10722
NM_001369.3(DNAH5):c.3834+40C>T rs35621834 0.10439
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_001369.3(DNAH5):c.13491+37A>G rs10069041 0.06931
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02695
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02672
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02453
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02235
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02176
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_001369.3(DNAH5):c.*649G>C rs77289648 0.02130
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02009
NM_001369.3(DNAH5):c.6989-13T>C rs112344370 0.01579
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01551
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.*1389C>T rs77701143 0.01404
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01375
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01240
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.12280-17T>C rs10214399 0.00956
NM_001369.3(DNAH5):c.*1591T>A rs115520709 0.00953
NM_001369.3(DNAH5):c.5484+17T>C rs16902828 0.00937
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00912
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00884
NM_001369.3(DNAH5):c.*1502C>T rs144265705 0.00842
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00745
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00744
NM_001369.3(DNAH5):c.*775G>A rs146040448 0.00728
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_001369.3(DNAH5):c.2052+22C>A rs150480592 0.00621
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001369.3(DNAH5):c.*1156C>T rs115907706 0.00534
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00496
NM_001369.3(DNAH5):c.*84C>T rs151143347 0.00442
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00406
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00351
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.4796+11C>A rs146696580 0.00299
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_001369.3(DNAH5):c.*426C>T rs541323896 0.00260
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile) rs77874614 0.00250
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=) rs138639741 0.00241
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00231
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00206
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00194
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00176
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001369.3(DNAH5):c.*1652C>T rs149589710 0.00165
NM_001369.3(DNAH5):c.1321-15T>C rs202081804 0.00160
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00157
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00127
NM_001369.3(DNAH5):c.7753-9C>G rs377367981 0.00122
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00119
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.7752+7C>G rs143848918 0.00116
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00111
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) rs112911055 0.00109
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_001369.3(DNAH5):c.*1613G>A rs763635720 0.00084
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001369.3(DNAH5):c.1090-14G>T rs150627172 0.00079
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00078
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00074
NM_001369.3(DNAH5):c.5882+133A>G rs530043272 0.00074
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001369.3(DNAH5):c.8224+15G>A rs148099176 0.00070
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_001369.3(DNAH5):c.12500-11G>A rs200056509 0.00057
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=) rs150429110 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00051
NM_001369.3(DNAH5):c.*445G>A rs139979856 0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) rs149489069 0.00046
NM_001369.3(DNAH5):c.*427G>A rs564203224 0.00045
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00044
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00044
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_001369.3(DNAH5):c.13125+10T>A rs2277047 0.00039
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266 0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00039
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00038
NM_001369.3(DNAH5):c.2067T>C (p.His689=) rs140630779 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505 0.00034
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00034
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001369.3(DNAH5):c.11570+13G>A rs80199741 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750 0.00029
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) rs138968139 0.00027
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) rs148017278 0.00026
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00024
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00022
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00021
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00020
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=) rs549164618 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_001369.3(DNAH5):c.5911G>A (p.Gly1971Arg) rs764973765 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.7476G>T (p.Ala2492=) rs778257130 0.00019
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) rs146215039 0.00018
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.2052+18T>C rs200293546 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) rs371663826 0.00015
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=) rs192739957 0.00015
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00015
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg) rs367816483 0.00015
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) rs569428035 0.00015
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) rs182512638 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.*291G>A rs771015963 0.00012
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00012
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=) rs146330391 0.00011
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=) rs376510352 0.00011
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001369.3(DNAH5):c.3397-8G>T rs200694593 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001369.3(DNAH5):c.4053+13C>T rs543363871 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00011
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00011
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00010
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001369.3(DNAH5):c.*920A>G rs1386874771 0.00009
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) rs149580135 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327 0.00009
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=) rs139916610 0.00009
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00009
NM_001369.3(DNAH5):c.393C>T (p.Ile131=) rs202190908 0.00009
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met) rs140690090 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00008
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508 0.00008
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val) rs148837179 0.00008
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709 0.00008
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala) rs371099382 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr) rs757212818 0.00008
NM_001369.3(DNAH5):c.*1361G>T rs886059930 0.00007
NM_001369.3(DNAH5):c.*281T>C rs936169293 0.00007
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr) rs1000624148 0.00007
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe) rs1490888369 0.00007
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00007
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00007
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=) rs777353326 0.00007
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00007
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00007
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=) rs201881960 0.00006
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=) rs139317626 0.00006
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=) rs200974254 0.00006
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp) rs747041428 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) rs201264488 0.00006
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu) rs561666802 0.00006
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met) rs186180802 0.00005
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=) rs140220517 0.00005
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00005
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00005
NM_001369.3(DNAH5):c.2260-2552G>T rs1047408706 0.00005
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702 0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn) rs140471516 0.00005
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) rs774855042 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=) rs78667898 0.00005
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686 0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) rs144308691 0.00005
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val) rs761877376 0.00005
NM_001369.3(DNAH5):c.*305C>T rs955336890 0.00004
NM_001369.3(DNAH5):c.*697A>G rs972489046 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=) rs181510043 0.00004
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp) rs143391709 0.00004
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His) rs373749995 0.00004
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln) rs761289479 0.00004
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=) rs773547505 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys) rs781667158 0.00004
NM_001369.3(DNAH5):c.6989-14G>T rs368353964 0.00004
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) rs373885245 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser) rs149681419 0.00004
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) rs770064361 0.00004
NM_001369.3(DNAH5):c.*1506G>A rs574438524 0.00003
NM_001369.3(DNAH5):c.*349G>A rs866931796 0.00003
NM_001369.3(DNAH5):c.*891A>G rs764924502 0.00003
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys) rs147882360 0.00003
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) rs150532311 0.00003
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln) rs779977337 0.00003
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00003
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=) rs200744540 0.00003
NM_001369.3(DNAH5):c.11571-9A>G rs779715252 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) rs572139897 0.00003
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=) rs886059967 0.00003
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=) rs572468560 0.00003
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn) rs768917457 0.00003
NM_001369.3(DNAH5):c.13492-11G>T rs749125197 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.1537-10A>T rs777597757 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_001369.3(DNAH5):c.2260-12A>G rs184701603 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00003
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) rs763709302 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021 0.00003
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala) rs755082450 0.00003
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=) rs372046349 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val) rs200551639 0.00003
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00003
NM_001369.3(DNAH5):c.7407+4A>C rs1313931851 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val) rs113576049 0.00003
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882 0.00003
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=) rs147427207 0.00003
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr) rs760739660 0.00003
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00003
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00003
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401 0.00003
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00003
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00003
NM_001369.3(DNAH5):c.*100G>A rs527863586 0.00002
NM_001369.3(DNAH5):c.*1298T>A rs917055972 0.00002
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=) rs759149687 0.00002
NM_001369.3(DNAH5):c.11455+7T>G rs774101738 0.00002
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln) rs779624238 0.00002
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met) rs773699669 0.00002
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00002
NM_001369.3(DNAH5):c.12566C>T (p.Ala4189Val) rs138788207 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) rs373727231 0.00002
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu) rs779509527 0.00002
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser) rs1162539227 0.00002
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) rs774680760 0.00002
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) rs556936569 0.00002
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile) rs769656114 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.6989-6T>C rs1761231844 0.00002
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=) rs768567429 0.00002
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=) rs771511314 0.00002
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu) rs1465026258 0.00002
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln) rs1424415934 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) rs769557047 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys) rs369744828 0.00002
NM_001369.3(DNAH5):c.967C>T (p.Leu323=) rs746109550 0.00002
NM_001369.3(DNAH5):c.*355G>A rs778207515 0.00001
NM_001369.3(DNAH5):c.*883T>C rs1427522956 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala) rs1398835710 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.10556-15T>C rs754992743 0.00001
NM_001369.3(DNAH5):c.10738G>A (p.Gly3580Ser) rs886059972 0.00001
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter) rs749980719 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys) rs777140914 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=) rs1024441903 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.11986C>T (p.Arg3996Cys) rs886059970 0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12125G>A (p.Arg4042Gln) rs746715378 0.00001
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=) rs776715085 0.00001
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile) rs747409181 0.00001
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn) rs748199626 0.00001
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) rs375694023 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008 0.00001
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=) rs766746657 0.00001
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) rs1743041017 0.00001
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys) rs886060012 0.00001
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=) rs1775984639 0.00001
NM_001369.3(DNAH5):c.1728A>C (p.Glu576Asp) rs769083484 0.00001
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.2087T>A (p.Leu696Ter) rs1002831578 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.2432-3A>G rs1773163926 0.00001
NM_001369.3(DNAH5):c.2483T>C (p.Ile828Thr) rs769408333 0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458 0.00001
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys) rs762848961 0.00001
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His) rs780758815 0.00001
NM_001369.3(DNAH5):c.2983+5T>C rs1353417066 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg) rs751785066 0.00001
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) rs760081822 0.00001
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) rs752992572 0.00001
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu) rs763448297 0.00001
NM_001369.3(DNAH5):c.3769A>G (p.Met1257Val) rs886060007 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=) rs970611077 0.00001
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile) rs1015850611 0.00001
NM_001369.3(DNAH5):c.4116+15T>C rs201947846 0.00001
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter) rs752734772 0.00001
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs) rs765355281 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.439-2A>G rs565076112 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=) rs886059985 0.00001
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576 0.00001
NM_001369.3(DNAH5):c.5276A>G (p.Tyr1759Cys) rs762444469 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=) rs145129897 0.00001
NM_001369.3(DNAH5):c.57+14G>T rs756464306 0.00001
NM_001369.3(DNAH5):c.57+1G>A rs376118760 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr) rs201114289 0.00001
NM_001369.3(DNAH5):c.7037T>C (p.Ile2346Thr) rs757623380 0.00001
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser) rs910750925 0.00001
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys) rs1409796457 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454 0.00001
NM_001369.3(DNAH5):c.7258G>A (p.Glu2420Lys) rs1404921254 0.00001
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met) rs766316984 0.00001
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=) rs1222953554 0.00001
NM_001369.3(DNAH5):c.7967T>C (p.Ile2656Thr) rs752318477 0.00001
NM_001369.3(DNAH5):c.799-11C>T rs371868451 0.00001
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr) rs773280167 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=) rs112594597 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) rs1182948401 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8449-3C>T rs772481411 0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) rs753130398 0.00001
NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys) rs369455386 0.00001
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00001
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly) rs1755004469 0.00001
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=) rs1754239719 0.00001
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter) rs1264701182 0.00001
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln) rs745557874 0.00001
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val) rs199691556 0.00001
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=) rs547729937 0.00001
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu) rs561380021 0.00001
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter) rs369683202 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333 0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs) rs1752478598 0.00001
GRCh37/hg19 5p15.2(chr5:13844711-13845454)
NM_001369.3(DNAH5):c.*1119T>C rs148467464
NM_001369.3(DNAH5):c.*1342T>G rs886059931
NM_001369.3(DNAH5):c.*563G>A rs189538534
NM_001369.3(DNAH5):c.*802A>G rs886059932
NM_001369.3(DNAH5):c.*92G>A rs886059933
NM_001369.3(DNAH5):c.-8C>A rs199528866
NM_001369.3(DNAH5):c.-8C>T rs199528866
NM_001369.3(DNAH5):c.10030del (p.Ser3344fs) rs1307200375
NM_001369.3(DNAH5):c.10065del (p.Lys3355fs) rs2546647964
NM_001369.3(DNAH5):c.10102-1G>A
NM_001369.3(DNAH5):c.10102-1G>C
NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter) rs2546640737
NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter) rs2546631246
NM_001369.3(DNAH5):c.10304_10306delinsTTCG (p.Asn3435fs) rs2546631182
NM_001369.3(DNAH5):c.1035G>A (p.Val345=) rs150335023
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) rs202169624
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=) rs1750680564
NM_001369.3(DNAH5):c.10555+1G>C
NM_001369.3(DNAH5):c.10555+1G>T rs2546618242
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs) rs765980788
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys) rs376292253
NM_001369.3(DNAH5):c.10757T>A (p.Leu3586Ter)
NM_001369.3(DNAH5):c.10764_10765delinsA (p.Gln3589fs) rs2546614911
NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter) rs2546614878
NM_001369.3(DNAH5):c.10783_10784del (p.Thr3595fs) rs2546614807
NM_001369.3(DNAH5):c.1090-6T>C rs886060015
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.1090del (p.Leu364fs) rs1476338953
NM_001369.3(DNAH5):c.10933del (p.Arg3645fs) rs2546611820
NM_001369.3(DNAH5):c.10974A>G (p.Pro3658=) rs774653078
NM_001369.3(DNAH5):c.10983T>A (p.Asp3661Glu) rs886059971
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter) rs2546611536
NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu) rs1326900384
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=) rs1580060938
NM_001369.3(DNAH5):c.11028+2T>C rs773447251
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu) rs2126690194
NM_001369.3(DNAH5):c.11163del (p.Gly3722fs) rs2126689141
NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter) rs2546608024
NM_001369.3(DNAH5):c.11205delinsTGTGTATAAGAGACAGT (p.Glu3735fs) rs2546608007
NM_001369.3(DNAH5):c.11207_11208insT (p.Lys3736fs) rs2546607967
NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter) rs936673131
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter) rs1467939954
NM_001369.3(DNAH5):c.11456-7C>T rs2546564339
NM_001369.3(DNAH5):c.11468G>A (p.Gly3823Asp)
NM_001369.3(DNAH5):c.11469del (p.Ser3824fs) rs2546564231
NM_001369.3(DNAH5):c.11496_11497del (p.Glu3832fs) rs2546564147
NM_001369.3(DNAH5):c.1152_1153del (p.His385fs) rs2547135145
NM_001369.3(DNAH5):c.11571-1G>A rs1481337703
NM_001369.3(DNAH5):c.11585del (p.Pro3862fs)
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs) rs2126607061
NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter) rs2546561065
NM_001369.3(DNAH5):c.11705del (p.Lys3902fs) rs2546560897
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.11766_11768delinsCTCTGGTTGGTGAG (p.Ala3923delinsSerGlyTrpTer) rs2546547472
NM_001369.3(DNAH5):c.11783_11784del (p.Lys3928fs) rs2546547416
NM_001369.3(DNAH5):c.1181del (p.Thr394fs)
NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter) rs2546546992
NM_001369.3(DNAH5):c.1186_1190delinsA (p.Leu396fs) rs2547134964
NM_001369.3(DNAH5):c.11883+1G>A
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs) rs2126564662
NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter) rs1221618846
NM_001369.3(DNAH5):c.1198-68C>T rs13180613
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.3(DNAH5):c.12069del (p.Lys4023fs) rs2546525914
NM_001369.3(DNAH5):c.12073_12074insATAGAGAAGAGGT (p.Ala4025fs) rs2546525870
NM_001369.3(DNAH5):c.12074_12075insTGTCTCTTATACACAG (p.Glu4026fs) rs2546525857
NM_001369.3(DNAH5):c.12152T>C (p.Met4051Thr)
NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter) rs2546519013
NM_001369.3(DNAH5):c.12315A>G (p.Gly4105=) rs2126519204
NM_001369.3(DNAH5):c.12377dup (p.Arg4127fs) rs2546518447
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) rs376372961
NM_001369.3(DNAH5):c.12459_12460insTGTTTTTTTT (p.Pro4154fs) rs2546517770
NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter) rs2546517357
NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His) rs1744666930
NM_001369.3(DNAH5):c.12499+1dup
NM_001369.3(DNAH5):c.12500-3C>T rs1311123080
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.1255del (p.Ser419fs) rs2547129637
NM_001369.3(DNAH5):c.12586C>G (p.Gln4196Glu) rs886059965
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter) rs886059965
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter) rs762673561
NM_001369.3(DNAH5):c.12650_12653delinsATAAGAGACAGT (p.Phe4217fs) rs2546512190
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12816_12817del (p.Phe4272fs) rs2546508989
NM_001369.3(DNAH5):c.12899delinsTT (p.Gln4300fs) rs2546508668
NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter) rs371030180
NM_001369.3(DNAH5):c.12910-1G>C rs1561097225
NM_001369.3(DNAH5):c.1291A>T (p.Lys431Ter) rs1446257052
NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter) rs1273109738
NM_001369.3(DNAH5):c.12997C>A (p.Leu4333Met) rs1217758791
NM_001369.3(DNAH5):c.1302del (p.Ala435fs)
NM_001369.3(DNAH5):c.1303_1304insAGTGT (p.Ala435fs) rs2547129460
NM_001369.3(DNAH5):c.13040del (p.Gly4347fs) rs2546503640
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13114G>A (p.Val4372Ile) rs1744009916
NM_001369.3(DNAH5):c.13119dup (p.Phe4374fs) rs2546502967
NM_001369.3(DNAH5):c.13126-1G>C
NM_001369.3(DNAH5):c.13141C>T (p.Gln4381Ter)
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.1320+1G>A rs2547129342
NM_001369.3(DNAH5):c.13255_13256del (p.Asp4419fs) rs2546487214
NM_001369.3(DNAH5):c.13338+1G>A rs1219958424
NM_001369.3(DNAH5):c.13338+5G>C rs374718437
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13364del (p.Gly4455fs) rs2546469607
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly) rs1427121789
NM_001369.3(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter) rs1742088018
NM_001369.3(DNAH5):c.1344_1348del (p.Gln451fs) rs2547127627
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13481C>T (p.Ala4494Val) rs756228394
NM_001369.3(DNAH5):c.13491+8C>A rs1742074967
NM_001369.3(DNAH5):c.13491+8C>T rs1742074967
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs) rs2151981160
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=) rs1740774348
NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro) rs770287375
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr) rs886059934
NM_001369.3(DNAH5):c.1384_1399delinsATTGTT (p.Phe462fs) rs2547127446
NM_001369.3(DNAH5):c.1405A>G (p.Ile469Val) rs754377047
NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter) rs2547127397
NM_001369.3(DNAH5):c.141T>A (p.Cys47Ter) rs2547182728
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met) rs189145014
NM_001369.3(DNAH5):c.149del (p.Leu50fs) rs2547182699
NM_001369.3(DNAH5):c.1530del (p.Lys510fs) rs2547126853
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1576_1577del (p.Leu526fs) rs2547120231
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe) rs1775975227
NM_001369.3(DNAH5):c.1693_1694insGCAGG (p.Thr565fs) rs2547094911
NM_001369.3(DNAH5):c.1731-1G>C rs2547093291
NM_001369.3(DNAH5):c.1750_1751insTGTATAAGAGACA (p.Gly584fs) rs2547093213
NM_001369.3(DNAH5):c.1789_1790insACACTCAGCAGCA (p.Gly597fs) rs2547093065
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.1891dup (p.Arg631fs)
NM_001369.3(DNAH5):c.1896G>T (p.Gln632His) rs746476934
NM_001369.3(DNAH5):c.2053-2A>G
NM_001369.3(DNAH5):c.2126A>G (p.Asn709Ser) rs1774434030
NM_001369.3(DNAH5):c.2136_2139dup (p.Ile714fs)
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter) rs2547087810
NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter) rs2547087393
NM_001369.3(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.3(DNAH5):c.2278C>T (p.Gln760Ter) rs2547069104
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter) rs2151953467
NM_001369.3(DNAH5):c.2398_2408del (p.Glu800fs) rs2547068554
NM_001369.3(DNAH5):c.2449_2452del (p.Leu817fs) rs2547057655
NM_001369.3(DNAH5):c.2487T>A (p.Asp829Glu) rs2151948949
NM_001369.3(DNAH5):c.2518_2519del (p.Cys841fs) rs2547057248
NM_001369.3(DNAH5):c.2554_2555insTATAAGAGACAGT (p.Glu852delinsValTer) rs2547057003
NM_001369.3(DNAH5):c.2557G>T (p.Glu853Ter)
NM_001369.3(DNAH5):c.2557_2565delinsAA (p.Glu853fs) rs2547056929
NM_001369.3(DNAH5):c.2566_2567insTATGCCGTCTTCTGCTTGT (p.Gln856fs) rs2547056904
NM_001369.3(DNAH5):c.2577+1G>A rs867422125
NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe) rs753213789
NM_001369.3(DNAH5):c.2594G>T (p.Gly865Val) rs886060008
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter) rs1484394072
NM_001369.3(DNAH5):c.2695G>T (p.Glu899Ter)
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2720_2721del (p.Val907fs) rs2547042277
NM_001369.3(DNAH5):c.2724_2727del (p.Asn908fs) rs2547042246
NM_001369.3(DNAH5):c.2732dup (p.Asn911fs)
NM_001369.3(DNAH5):c.2743+12G>A rs1380292180
NM_001369.3(DNAH5):c.2766del (p.Phe922fs) rs2547038612
NM_001369.3(DNAH5):c.2780C>A (p.Ser927Ter) rs2547038533
NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu) rs2547038533
NM_001369.3(DNAH5):c.2797dup (p.Ala933fs) rs2151941780
NM_001369.3(DNAH5):c.283C>G (p.Leu95Val) rs757542755
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe) rs757542755
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His) rs752260329
NM_001369.3(DNAH5):c.2938dup (p.Ala980fs) rs2547037386
NM_001369.3(DNAH5):c.293del (p.Leu98fs) rs2547160797
NM_001369.3(DNAH5):c.2942delinsGCAGCA (p.Ile981fs) rs2547037350
NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter) rs2547037313
NM_001369.3(DNAH5):c.294A>T (p.Leu98=) rs1458038548
NM_001369.3(DNAH5):c.2969_2970del (p.Thr990fs) rs2547037218
NM_001369.3(DNAH5):c.2996_2997insAATATTT (p.Ser1000fs) rs2547031773
NM_001369.3(DNAH5):c.3017del (p.Ser1006fs) rs2547031611
NM_001369.3(DNAH5):c.3034del (p.Ala1012fs) rs2547031508
NM_001369.3(DNAH5):c.3051del (p.Ile1018fs) rs2547031379
NM_001369.3(DNAH5):c.3082G>T (p.Glu1028Ter) rs2547031222
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=) rs766451124
NM_001369.3(DNAH5):c.3142dup (p.Val1048fs)
NM_001369.3(DNAH5):c.3152G>A (p.Trp1051Ter) rs2547030805
NM_001369.3(DNAH5):c.3162_3163insACCATTT (p.Leu1055fs) rs2547030766
NM_001369.3(DNAH5):c.3175A>G (p.Lys1059Glu) rs1771856279
NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser) rs200249508
NM_001369.3(DNAH5):c.3238_3240delinsT (p.Glu1080fs) rs2547030155
NM_001369.3(DNAH5):c.3275T>C (p.Ile1092Thr) rs2547014381
NM_001369.3(DNAH5):c.3304C>A (p.Gln1102Lys) rs774143246
NM_001369.3(DNAH5):c.3396+1G>A
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs) rs775866092
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
NM_001369.3(DNAH5):c.3598+1G>A rs2151920209
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3598G>A (p.Ala1200Thr)
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) rs769582678
NM_001369.3(DNAH5):c.3721A>T (p.Lys1241Ter)
NM_001369.3(DNAH5):c.3766_3767insAAAGT (p.Ala1256fs) rs2546995793
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.3774del (p.Ala1259fs) rs2546995755
NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter) rs2546995623
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.3849_3850insGTCGCCGTATCATT (p.Leu1284fs) rs2546988696
NM_001369.3(DNAH5):c.3880G>T (p.Glu1294Ter) rs2546988568
NM_001369.3(DNAH5):c.3886_3887delinsGTGG (p.Ile1296fs) rs2546988548
NM_001369.3(DNAH5):c.3945del (p.Val1316fs) rs2546988316
NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter) rs2546988009
NM_001369.3(DNAH5):c.4042del (p.Asp1348fs) rs2546987920
NM_001369.3(DNAH5):c.4052del (p.Asp1350_Leu1351insTer)
NM_001369.3(DNAH5):c.4053+1G>A rs1060501466
NM_001369.3(DNAH5):c.4054-12C>G rs1769241274
NM_001369.3(DNAH5):c.4102_4111del (p.Leu1368fs) rs2546984307
NM_001369.3(DNAH5):c.4113del (p.Gln1372fs) rs1769225531
NM_001369.3(DNAH5):c.4130del (p.Asn1377fs) rs2546983240
NM_001369.3(DNAH5):c.4151_4152del (p.Thr1384fs) rs2546983170
NM_001369.3(DNAH5):c.415_416insGAGTAAACAATGGC (p.Ile139fs) rs2547159909
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile) rs1000047685
NM_001369.3(DNAH5):c.417_418insTT (p.Thr140fs) rs2547159886
NM_001369.3(DNAH5):c.4189_4191delinsT (p.Thr1397fs) rs2546983059
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu) rs922374480
NM_001369.3(DNAH5):c.421_422insTGTCTCTTATA (p.Pro141fs) rs2547159869
NM_001369.3(DNAH5):c.4225C>G (p.Leu1409Val)
NM_001369.3(DNAH5):c.4256del (p.Tyr1419fs) rs2546982776
NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter) rs2546982546
NM_001369.3(DNAH5):c.4324A>G (p.Ile1442Val) rs371141184
NM_001369.3(DNAH5):c.4341A>T (p.Leu1447Phe) rs1769139958
NM_001369.3(DNAH5):c.4349del (p.Gln1450fs) rs2546982337
NM_001369.3(DNAH5):c.4380_4381del (p.Lys1461fs) rs2546979154
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) rs144958262
NM_001369.3(DNAH5):c.4467del (p.Ala1490fs) rs2546978839
NM_001369.3(DNAH5):c.4474A>G (p.Met1492Val) rs1768940067
NM_001369.3(DNAH5):c.4498A>G (p.Thr1500Ala) rs886059989
NM_001369.3(DNAH5):c.4545del (p.Lys1515fs) rs2546978418
NM_001369.3(DNAH5):c.4547T>A (p.Leu1516Ter) rs2546978412
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn) rs371453794
NM_001369.3(DNAH5):c.457_458insGGTAACAG (p.Leu153delinsTrpTer) rs2547156743
NM_001369.3(DNAH5):c.4597-1G>A rs2151905981
NM_001369.3(DNAH5):c.4597-2A>T rs756687157
NM_001369.3(DNAH5):c.4625_4626insTCCAC (p.Arg1542fs) rs2546974086
NM_001369.3(DNAH5):c.4643T>C (p.Leu1548Pro) rs1768634470
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter) rs2546974004
NM_001369.3(DNAH5):c.4660_4661del (p.Glu1554fs) rs2546973955
NM_001369.3(DNAH5):c.4704T>C (p.Arg1568=) rs1175413447
NM_001369.3(DNAH5):c.4712_4713insAATTG (p.Leu1572fs) rs2546973597
NM_001369.3(DNAH5):c.4743_4744insTCTTATACACATCTGTG (p.Ile1582delinsSerTyrThrHisLeuTer) rs2546973414
NM_001369.3(DNAH5):c.4756G>A (p.Glu1586Lys) rs2151905632
NM_001369.3(DNAH5):c.4985G>A (p.Trp1662Ter)
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg) rs758627759
NM_001369.3(DNAH5):c.5046_5047insCATC (p.Glu1683fs) rs2546942179
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.3(DNAH5):c.5115-49G>C rs10041099
NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs) rs1580543863
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter) rs760869074
NM_001369.3(DNAH5):c.5135_5140delinsCC (p.Leu1712fs) rs2546923286
NM_001369.3(DNAH5):c.5181_5182del (p.Glu1727fs) rs2546922985
NM_001369.3(DNAH5):c.5194del (p.Ala1732fs) rs2151870249
NM_001369.3(DNAH5):c.5198_5199delinsT (p.Ser1733fs) rs2546922894
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5238_5256dup (p.Lys1753Ter) rs2546922436
NM_001369.3(DNAH5):c.5271+1G>A
NM_001369.3(DNAH5):c.5272-16_5272-15dup
NM_001369.3(DNAH5):c.5272-9C>T rs555481241
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5360_5361insATCAAAC (p.Trp1788fs) rs2546911472
NM_001369.3(DNAH5):c.536C>A (p.Thr179Lys) rs747116308
NM_001369.3(DNAH5):c.5387_5388insAGCAGCACGACGA (p.Gln1797fs) rs2546911333
NM_001369.3(DNAH5):c.5455del (p.Thr1819fs) rs2546910928
NM_001369.3(DNAH5):c.5458G>T (p.Glu1820Ter) rs2546910913
NM_001369.3(DNAH5):c.5489_5490delinsCAATAAACAATC (p.Gly1830fs) rs2546908896
NM_001369.3(DNAH5):c.54_57+5del rs2547213808
NM_001369.3(DNAH5):c.5538T>G (p.Leu1846=) rs886059978
NM_001369.3(DNAH5):c.5556del (p.Asp1852fs)
NM_001369.3(DNAH5):c.5563del (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5590del (p.Leu1864fs) rs2546908342
NM_001369.3(DNAH5):c.5593G>T (p.Glu1865Ter) rs2546908288
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) rs763656985
NM_001369.3(DNAH5):c.5613_5616del (p.Ile1871fs) rs2546908108
NM_001369.3(DNAH5):c.5614G>A (p.Asp1872Asn) rs2151860259
NM_001369.3(DNAH5):c.5632_5633del (p.Leu1878fs)
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter) rs6880264
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5689del (p.Arg1897fs) rs2151860024
NM_001369.3(DNAH5):c.5802_5803insGACG (p.Ile1935fs) rs2546902976
NM_001369.3(DNAH5):c.5815_5821del (p.Ala1939fs) rs2546902882
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs) rs2546902682
NM_001369.3(DNAH5):c.587_588insTTCACAAAGCCTT (p.Gln197fs) rs2547155819
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) rs1764848840
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.5926G>A (p.Gly1976Arg)
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter) rs1372787085
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly) rs143679999
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys) rs989184330
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter) rs2546879148
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly) rs1763453207
NM_001369.3(DNAH5):c.617delinsCTTATACACATC (p.Phe206fs) rs2547155666
NM_001369.3(DNAH5):c.6182del (p.Lys2061fs) rs2546878619
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs) rs1060501461
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro) rs777013412
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu) rs1763365674
NM_001369.3(DNAH5):c.6379_6381delinsGACACTCAGCA (p.Asn2127fs) rs2546875647
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer) rs1580457416
NM_001369.3(DNAH5):c.6439_6440del (p.Lys2147fs) rs2546875240
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter) rs777303718
NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs) rs2546858325
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs) rs878854458
NM_001369.3(DNAH5):c.6570_6573del (p.Ser2191fs) rs2546857516
NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter) rs2546857495
NM_001369.3(DNAH5):c.6574_6576delinsT (p.Lys2192fs) rs2546857487
NM_001369.3(DNAH5):c.661-8C>T rs1227311322
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.6691_6692del (p.Glu2231fs) rs2546843977
NM_001369.3(DNAH5):c.6705A>T (p.Leu2235Phe) rs765945557
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
NM_001369.3(DNAH5):c.6842-1G>A
NM_001369.3(DNAH5):c.68del (p.Lys23fs) rs2547183062
NM_001369.3(DNAH5):c.6924del (p.Thr2309fs) rs2546833959
NM_001369.3(DNAH5):c.6961del (p.Trp2321fs) rs2546833788
NM_001369.3(DNAH5):c.6989-18T>C rs2151800885
NM_001369.3(DNAH5):c.700dup (p.Leu234fs) rs2547149282
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr) rs202082284
NM_001369.3(DNAH5):c.7024_7030delinsAAT (p.Asp2342fs) rs2546825777
NM_001369.3(DNAH5):c.7052_7053del (p.Ser2351fs) rs2546825682
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs) rs2151800607
NM_001369.3(DNAH5):c.7091del (p.Gly2364fs) rs2546825502
NM_001369.3(DNAH5):c.7131_7146del (p.Phe2377fs) rs2546825085
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.3(DNAH5):c.7231-11_7240del rs2127027745
NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter) rs2546815071
NM_001369.3(DNAH5):c.7295dup (p.Asp2434fs) rs2546814755
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7343del (p.Glu2448fs)
NM_001369.3(DNAH5):c.7359dup (p.Val2454fs) rs2546814225
NM_001369.3(DNAH5):c.7363_7364insCTGT (p.Ile2455fs) rs2546814180
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser) rs112103817
NM_001369.3(DNAH5):c.7400del (p.Pro2467fs)
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7408-14T>C rs1454703878
NM_001369.3(DNAH5):c.7408-1G>A rs2546807137
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=) rs886059974
NM_001369.3(DNAH5):c.7475_7500delinsTTG (p.Ala2492fs) rs2546806383
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs) rs1465499923
NM_001369.3(DNAH5):c.750_753delinsTG (p.Leu250fs) rs2547148963
NM_001369.3(DNAH5):c.7511T>G (p.Leu2504Arg) rs1344694038
NM_001369.3(DNAH5):c.7521del (p.Trp2507fs) rs2546806193
NM_001369.3(DNAH5):c.7522dup (p.Leu2508fs)
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7548_7549insTATGTGT (p.Glu2517delinsTyrValTer) rs2546805957
NM_001369.3(DNAH5):c.7569_7570insA (p.Pro2524fs)
NM_001369.3(DNAH5):c.7605_7606insTGGGTGCT (p.Asp2536fs) rs2546805288
NM_001369.3(DNAH5):c.7636A>T (p.Thr2546Ser)
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter) rs2546801150
NM_001369.3(DNAH5):c.765T>C (p.Asp255=) rs767772613
NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter) rs2546800840
NM_001369.3(DNAH5):c.7748G>T (p.Gly2583Val) rs2127006063
NM_001369.3(DNAH5):c.7753-1G>T rs2546794222
NM_001369.3(DNAH5):c.777A>G (p.Val259=) rs1580893242
NM_001369.3(DNAH5):c.7786A>C (p.Lys2596Gln) rs1759848562
NM_001369.3(DNAH5):c.7825C>A (p.Pro2609Thr) rs886059973
NM_001369.3(DNAH5):c.7849_7850del (p.Leu2617fs) rs2546793663
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=) rs748304927
NM_001369.3(DNAH5):c.796C>T (p.Gln266Ter) rs748605406
NM_001369.3(DNAH5):c.7982_7989del (p.Met2661fs) rs2546745666
NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter) rs2546745553
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter) rs1199634064
NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter) rs1757372234
NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter) rs2546743814
NM_001369.3(DNAH5):c.8072C>T (p.Pro2691Leu) rs2546743777
NM_001369.3(DNAH5):c.8153A>G (p.Gln2718Arg) rs1757348928
NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter) rs2546743083
NM_001369.3(DNAH5):c.8168A>T (p.Gln2723Leu) rs201935354
NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=) rs375287005
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter) rs2546737159
NM_001369.3(DNAH5):c.8324A>G (p.Gln2775Arg) rs2126900531
NM_001369.3(DNAH5):c.8340_8341del (p.Lys2780fs) rs2546736986
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter) rs2546736793
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs) rs1178766548
NM_001369.3(DNAH5):c.8403del (p.Trp2801fs) rs2546736595
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter) rs2546723652
NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter) rs2546713783
NM_001369.3(DNAH5):c.8659_8660del (p.Glu2887fs) rs2546713774
NM_001369.3(DNAH5):c.8668G>C (p.Asp2890His) rs1756005971
NM_001369.3(DNAH5):c.8685_8686del (p.Lys2895fs) rs2546713610
NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter) rs2546713542
NM_001369.3(DNAH5):c.8692G>T (p.Glu2898Ter)
NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter) rs2546713117
NM_001369.3(DNAH5):c.877A>T (p.Arg293Ter)
NM_001369.3(DNAH5):c.877dup (p.Arg293fs) rs781566109
NM_001369.3(DNAH5):c.8790_8791del (p.Phe2931fs) rs2546712693
NM_001369.3(DNAH5):c.8806del (p.Val2936fs) rs2126868543
NM_001369.3(DNAH5):c.8821-14G>A rs769508388
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter) rs1338867680
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser) rs756306722
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu) rs773014523
NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter) rs2546682451
NM_001369.3(DNAH5):c.8999del (p.Arg3000fs) rs1580180757
NM_001369.3(DNAH5):c.9032_9033del (p.Phe3011fs) rs2126813913
NM_001369.3(DNAH5):c.9033del (p.Phe3011fs) rs2126813913
NM_001369.3(DNAH5):c.9041_9042del (p.Thr3014fs) rs2546682078
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter) rs2546679549
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
NM_001369.3(DNAH5):c.9245T>C (p.Leu3082Pro) rs1489151063
NM_001369.3(DNAH5):c.9272dup (p.Glu3093fs)
NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter) rs2546678822
NM_001369.3(DNAH5):c.931_934del (p.Ala311fs) rs2547144109
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.3(DNAH5):c.9373+5G>T
NM_001369.3(DNAH5):c.9514dup (p.His3172fs) rs1561215326
NM_001369.3(DNAH5):c.9552C>A (p.Gly3184=) rs149749266
NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter) rs2546662839
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=) rs373510512
NM_001369.3(DNAH5):c.958_959dup (p.Lys322fs) rs752110126
NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA
NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter) rs2546659032
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9686dup (p.Glu3230fs) rs2546658739
NM_001369.3(DNAH5):c.9721-8del rs560450857
NM_001369.3(DNAH5):c.972G>A (p.Leu324=) rs757404057
NM_001369.3(DNAH5):c.9736_9737insG (p.Thr3246fs) rs2546656655
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val) rs780887847
NM_001369.3(DNAH5):c.975+8G>C rs1229365810
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9761del (p.Lys3254fs) rs2546656558
NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter) rs776993217
NM_001369.3(DNAH5):c.9768_9769delinsTGCGGAACT (p.Lys3256fs) rs2546656503
NM_001369.3(DNAH5):c.9774_9775insTATAAGAGACA (p.Val3259fs) rs2546656471
NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter) rs146215039
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs) rs2546656292
NM_001369.3(DNAH5):c.9850C>A (p.Leu3284Met) rs1752912351
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.9955A>G (p.Ile3319Val) rs1752483044
NM_001369.3(DNAH5):c.9956T>G (p.Ile3319Ser) rs2126762596
NM_001369.3(DNAH5):c.9958del (p.Met3320fs) rs2546648576
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) rs771715883
NM_001369.3(DNAH5):c.9982_9983insACATA (p.Leu3328fs) rs2546648432
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs) rs2126762332
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
NM_001369.3:c.[13486C>T];[13194_13197del]
Single allele

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