ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1453
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_003611.3(OFD1):c.828+364A>G rs16979176 0.01179
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_003611.3(OFD1):c.828+460A>C rs140641349 0.00612
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001277115.2(DNAH11):c.10027-10T>C rs116368970 0.00445
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=) rs117723546 0.00371
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00331
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=) rs117747863 0.00319
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=) rs111586634 0.00303
NM_001277115.2(DNAH11):c.13163-19T>A rs72658832 0.00299
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val) rs752257877 0.00285
NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg) rs148930400 0.00285
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00279
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_018076.5(ODAD2):c.27G>A (p.Thr9=) rs139724964 0.00224
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00206
NM_016616.5(NME8):c.388-3T>C rs141307270 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr) rs6510 0.00200
NM_017802.4(DNAAF5):c.477G>A (p.Ala159=) rs78581255 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00194
NM_016616.5(NME8):c.126C>T (p.Cys42=) rs138311368 0.00190
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00188
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_018076.5(ODAD2):c.390A>G (p.Arg130=) rs12777433 0.00180
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=) rs200603138 0.00151
NM_213607.3(DNAAF19):c.627G>A (p.Glu209=) rs200474997 0.00150
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr) rs150723128 0.00147
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00145
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=) rs190978775 0.00144
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu) rs761617724 0.00134
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=) rs112102932 0.00132
NC_000019.10:g.55166647A>G rs200365972 0.00131
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=) rs150994380 0.00124
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe) rs200581574 0.00121
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys) rs183031009 0.00120
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00119
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=) rs149045168 0.00118
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=) rs145381989 0.00118
NM_016616.5(NME8):c.1077A>G (p.Gln359=) rs142516478 0.00116
NM_018076.5(ODAD2):c.1228C>G (p.Gln410Glu) rs531033796 0.00115
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) rs200277460 0.00114
NM_001277115.2(DNAH11):c.7267-5C>G rs370674737 0.00113
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp) rs147984546 0.00111
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=) rs185794149 0.00110
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=) rs149432727 0.00109
NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=) rs150259992 0.00103
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00102
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00099
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys) rs61755909 0.00098
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=) rs190062687 0.00092
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu) rs1031852692 0.00090
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln) rs140569195 0.00088
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) rs145289281 0.00087
NM_001364171.2(ODAD1):c.1866C>T (p.His622=) rs138562401 0.00087
NM_001369.3(DNAH5):c.12349A>G (p.Ile4117Val) rs145501076 0.00086
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala) rs200992452 0.00086
NM_016616.5(NME8):c.1317C>T (p.Thr439=) rs144273423 0.00084
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001256715.2(DNAAF3):c.284G>A (p.Ser95Asn) rs148116155 0.00080
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met) rs150655393 0.00080
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=) rs200360777 0.00078
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00078
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_018076.5(ODAD2):c.198A>C (p.Ser66=) rs143338979 0.00076
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00074
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00074
NM_001277115.2(DNAH11):c.12473G>A (p.Arg4158Gln) rs182165265 0.00073
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) rs147454485 0.00073
NM_001277115.2(DNAH11):c.12328C>A (p.Pro4110Thr) rs200821339 0.00072
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=) rs74722451 0.00072
NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile) rs144128773 0.00072
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=) rs141621142 0.00071
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val) rs75829847 0.00071
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu) rs199552751 0.00071
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met) rs202148932 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=) rs200349268 0.00069
NM_012144.4(DNAI1):c.1177G>A (p.Val393Met) rs141089746 0.00068
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_001364171.2(ODAD1):c.1974C>T (p.Gly658=) rs150335194 0.00066
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_003114.5(SPAG1):c.2601A>G (p.Ser867=) rs138311726 0.00065
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 0.00064
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=) rs200022799 0.00063
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile) rs138915052 0.00063
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=) rs143312655 0.00063
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201 0.00062
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp) rs771462228 0.00061
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00060
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_018076.5(ODAD2):c.583A>T (p.Ser195Cys) rs138425193 0.00058
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg) rs142141660 0.00054
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=) rs189617808 0.00054
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn) rs201566715 0.00054
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00054
NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg) rs148764188 0.00053
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_001277115.2(DNAH11):c.213G>T (p.Gly71=) rs542513475 0.00051
NM_001277115.2(DNAH11):c.5691C>T (p.Thr1897=) rs200388712 0.00051
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00051
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00051
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_213607.3(DNAAF19):c.275C>T (p.Pro92Leu) rs142342712 0.00050
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_018076.5(ODAD2):c.378T>C (p.Val126=) rs144145876 0.00047
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00046
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala) rs141807661 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_012472.6(DNAAF11):c.949A>G (p.Ile317Val) rs146067670 0.00046
NM_018076.5(ODAD2):c.2592A>G (p.Pro864=) rs145042199 0.00046
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) rs200459402 0.00046
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00045
NM_001277115.2(DNAH11):c.4576T>C (p.Leu1526=) rs199559539 0.00044
NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile) rs202009583 0.00044
NM_001277115.2(DNAH11):c.4961C>G (p.Ala1654Gly) rs376708182 0.00044
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00044
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp) rs200327783 0.00044
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=) rs141074491 0.00044
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn) rs199649763 0.00044
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe) rs201793112 0.00043
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=) rs376496298 0.00043
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp) rs111451119 0.00043
NM_001277115.2(DNAH11):c.4185G>A (p.Arg1395=) rs113853066 0.00042
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00042
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00042
NM_023036.6(DNAI2):c.1380G>T (p.Val460=) rs148947094 0.00042
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met) rs201231901 0.00041
NM_003114.5(SPAG1):c.957T>A (p.Val319=) rs146528350 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00040
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu) rs149924115 0.00040
NM_018139.3(DNAAF2):c.1785G>A (p.Val595=) rs141689467 0.00040
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val) rs189000268 0.00038
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile) rs377222257 0.00038
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser) rs201704416 0.00037
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr) rs149271265 0.00037
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg) rs201919395 0.00036
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00036
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) rs150050027 0.00036
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=) rs371383125 0.00036
NM_018076.5(ODAD2):c.1277G>A (p.Ser426Asn) rs143513621 0.00036
NM_018076.5(ODAD2):c.960G>A (p.Gln320=) rs146568420 0.00036
NM_001277115.2(DNAH11):c.6274-5T>C rs74365849 0.00035
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=) rs139675128 0.00035
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) rs373515859 0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=) rs368294823 0.00034
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His) rs369849556 0.00033
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_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00033
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203 0.00032
NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=) rs377325487 0.00032
NM_001369.3(DNAH5):c.3843T>C (p.Tyr1281=) rs146492613 0.00032
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_016616.5(NME8):c.84C>T (p.Gly28=) rs376117068 0.00032
NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu) rs756968294 0.00032
NM_017802.4(DNAAF5):c.231G>A (p.Leu77=) rs781235373 0.00032
NM_181426.2(CCDC39):c.267T>C (p.Ile89=) rs61733581 0.00032
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr) rs770101727 0.00031
NM_001277115.2(DNAH11):c.4791T>C (p.Tyr1597=) rs748873603 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_017802.4(DNAAF5):c.933C>T (p.Asp311=) rs139879811 0.00031
NM_018139.3(DNAAF2):c.1329C>T (p.His443=) rs190354993 0.00031
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00030
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=) rs149926178 0.00030
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00030
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) rs149894438 0.00030
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=) rs113952995 0.00030
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00030
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=) rs114128856 0.00030
NM_001277115.2(DNAH11):c.3184G>T (p.Asp1062Tyr) rs371880343 0.00029
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His) rs192989152 0.00029
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_012144.4(DNAI1):c.276G>A (p.Lys92=) rs140983343 0.00029
NM_023036.6(DNAI2):c.1516C>A (p.Arg506=) rs141581673 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=) rs200978576 0.00028
NM_213607.3(DNAAF19):c.473C>T (p.Ala158Val) rs148834205 0.00028
NM_001277115.2(DNAH11):c.195C>T (p.Arg65=) rs369285943 0.00027
NM_001277115.2(DNAH11):c.4059G>C (p.Val1353=) rs372066048 0.00027
NM_001277115.2(DNAH11):c.6264C>T (p.Pro2088=) rs187936691 0.00027
NM_001364171.2(ODAD1):c.705C>T (p.Arg235=) rs368483838 0.00027
NM_001369.3(DNAH5):c.8247C>T (p.Tyr2749=) rs367946282 0.00027
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp) rs146725281 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_003114.5(SPAG1):c.713C>T (p.Ala238Val) rs755306741 0.00026
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=) rs148419527 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_001364171.2(ODAD1):c.1641G>A (p.Ala547=) rs374160332 0.00024
NM_001364171.2(ODAD1):c.414G>A (p.Pro138=) rs372358888 0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_017802.4(DNAAF5):c.27C>T (p.Ala9=) rs557885420 0.00024
NM_152732.5(RSPH9):c.819C>T (p.Pro273=) rs79412180 0.00024
NM_213607.3(DNAAF19):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=) rs139726443 0.00023
NM_001277115.2(DNAH11):c.11107G>C (p.Glu3703Gln) rs762297426 0.00023
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile) rs575775297 0.00023
NM_001277115.2(DNAH11):c.9465T>A (p.Ala3155=) rs370662544 0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) rs143717300 0.00023
NM_018076.5(ODAD2):c.1869G>A (p.Thr623=) rs189617150 0.00023
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00023
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=) rs139566676 0.00023
NM_001277115.2(DNAH11):c.7449C>T (p.Leu2483=) rs139339343 0.00022
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile) rs141955563 0.00022
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00022
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=) rs188903141 0.00021
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp) rs144863059 0.00021
NM_001256715.2(DNAAF3):c.747T>C (p.His249=) rs368667794 0.00021
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703 0.00021
NM_001277115.2(DNAH11):c.6144G>A (p.Thr2048=) rs754395781 0.00021
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met) rs150271983 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_003114.5(SPAG1):c.1128C>T (p.Ala376=) rs757793042 0.00021
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter) rs150497712 0.00021
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00021
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=) rs370118109 0.00021
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324 0.00020
NM_001277115.2(DNAH11):c.1824A>G (p.Gln608=) rs188265394 0.00020
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr) rs374186868 0.00020
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00020
NM_016616.5(NME8):c.454C>T (p.Gln152Ter) rs199901385 0.00020
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00020
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) rs374289303 0.00020
NM_001277115.2(DNAH11):c.10245G>A (p.Ala3415=) rs199799310 0.00019
NM_001277115.2(DNAH11):c.2349T>A (p.Pro783=) rs370930478 0.00019
NM_001369.3(DNAH5):c.5991C>T (p.Leu1997=) rs376001456 0.00019
NM_001369.3(DNAH5):c.7476G>T (p.Ala2492=) rs778257130 0.00019
NM_016616.5(NME8):c.226C>A (p.Gln76Lys) rs142570057 0.00019
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=) rs149101412 0.00019
NM_018076.5(ODAD2):c.86C>T (p.Ala29Val) rs200574441 0.00019
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=) rs567371975 0.00019
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=) rs146478497 0.00019
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=) rs201592689 0.00018
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=) rs201050208 0.00018
NM_001364171.2(ODAD1):c.1680C>A (p.Thr560=) rs138262031 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_003114.5(SPAG1):c.1923C>T (p.Asp641=) rs143972848 0.00018
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00018
NM_018076.5(ODAD2):c.2572G>A (p.Ala858Thr) rs200363248 0.00018
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00017
NM_001277115.2(DNAH11):c.6924G>A (p.Pro2308=) rs186695846 0.00017
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met) rs72657369 0.00017
NM_001369.3(DNAH5):c.12375G>A (p.Ala4125=) rs140284455 0.00017
NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln) rs878855237 0.00017
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) rs141157671 0.00017
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496 0.00017
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=) rs748264709 0.00017
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00017
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 0.00016
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala) rs372733227 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.4370C>T (p.Thr1457Ile) rs200220615 0.00016
NM_001277115.2(DNAH11):c.5397C>A (p.Ile1799=) rs368444771 0.00016
NM_001364171.2(ODAD1):c.315G>A (p.Ala105=) rs369079468 0.00016
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_016616.5(NME8):c.440C>T (p.Pro147Leu) rs143559107 0.00016
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=) rs758280553 0.00016
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu) rs200448007 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590 0.00016
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu) rs201187909 0.00015
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val) rs79874320 0.00015
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) rs371663826 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.4687G>A (p.Gly1563Ser) rs147567352 0.00015
NM_003114.5(SPAG1):c.1119C>T (p.Ala373=) rs1368158185 0.00015
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_016616.5(NME8):c.747C>T (p.Asn249=) rs371745920 0.00015
NM_017802.4(DNAAF5):c.282G>A (p.Ala94=) rs887811765 0.00015
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00015
NM_001277115.2(DNAH11):c.5625T>C (p.Cys1875=) rs368967707 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_012144.4(DNAI1):c.741G>A (p.Lys247=) rs562408105 0.00014
NM_016616.5(NME8):c.1630G>A (p.Ala544Thr) rs140494494 0.00014
NM_017802.4(DNAAF5):c.1539C>T (p.Gly513=) rs577043545 0.00014
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr) rs149139347 0.00014
NM_018076.5(ODAD2):c.2151G>A (p.Lys717=) rs375534822 0.00014
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) rs199817659 0.00014
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00013
NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=) rs201887376 0.00013
NM_001277115.2(DNAH11):c.10122A>G (p.Lys3374=) rs764350537 0.00013
NM_001277115.2(DNAH11):c.3201T>C (p.His1067=) rs367776408 0.00013
NM_001277115.2(DNAH11):c.4620G>A (p.Gln1540=) rs192515447 0.00013
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00013
NM_001369.3(DNAH5):c.11215T>C (p.Leu3739=) rs768012285 0.00013
NM_001369.3(DNAH5):c.11934G>A (p.Pro3978=) rs370543923 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.873C>T (p.Asn291=) rs149755302 0.00013
NM_017802.4(DNAAF5):c.1812C>T (p.His604=) rs190772196 0.00013
NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=) rs199992201 0.00013
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00013
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) rs201923286 0.00013
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733 0.00012
NM_001277115.2(DNAH11):c.12057C>T (p.Phe4019=) rs200441507 0.00012
NM_001277115.2(DNAH11):c.7225G>A (p.Ala2409Thr) rs559451610 0.00012
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012472.6(DNAAF11):c.369C>T (p.Asn123=) rs373347833 0.00012
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=) rs201112772 0.00012
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=) rs565551381 0.00011
NM_001277115.2(DNAH11):c.2826G>A (p.Pro942=) rs368794820 0.00011
NM_001277115.2(DNAH11):c.8382G>A (p.Lys2794=) rs200214408 0.00011
NM_001277115.2(DNAH11):c.9279C>T (p.Ser3093=) rs200160729 0.00011
NM_001364171.2(ODAD1):c.2091G>A (p.Pro697=) rs572589870 0.00011
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=) rs144879072 0.00011
NM_001369.3(DNAH5):c.4440C>T (p.Cys1480=) rs376618204 0.00011
NM_001369.3(DNAH5):c.4860C>T (p.Asp1620=) rs139447802 0.00011
NM_003114.5(SPAG1):c.639G>A (p.Lys213=) rs751691673 0.00011
NM_003611.3(OFD1):c.264A>G (p.Glu88=) rs138623824 0.00011
NM_016616.5(NME8):c.285C>T (p.Ile95=) rs201295247 0.00011
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His) rs572440259 0.00011
NM_018076.5(ODAD2):c.26C>T (p.Thr9Met) rs181484327 0.00011
NM_018076.5(ODAD2):c.3069T>C (p.Ala1023=) rs546928912 0.00011
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His) rs371126037 0.00011
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) rs200861036 0.00011
NM_152732.5(RSPH9):c.780C>T (p.Tyr260=) rs372218633 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) rs775454434 0.00011
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val) rs199661899 0.00010
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=) rs371357562 0.00010
NM_001277115.2(DNAH11):c.10887G>A (p.Glu3629=) rs368254400 0.00010
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser) rs183509559 0.00010
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu) rs201978870 0.00010
NM_001364171.2(ODAD1):c.325G>A (p.Glu109Lys) rs368408933 0.00010
NM_001364171.2(ODAD1):c.697C>T (p.Arg233Trp) rs200168343 0.00010
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00010
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) rs267600357 0.00010
NM_001369.3(DNAH5):c.11700C>G (p.Thr3900=) rs777190482 0.00010
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00010
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=) rs763731693 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 0.00010
NM_001369.3(DNAH5):c.4881G>A (p.Thr1627=) rs751858022 0.00010
NM_001369.3(DNAH5):c.7605C>T (p.Pro2535=) rs375573515 0.00010
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln) rs147104722 0.00010
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile) rs145938269 0.00010
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=) rs368936903 0.00010
NM_017802.4(DNAAF5):c.2329G>A (p.Ala777Thr) rs200050837 0.00010
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=) rs142939429 0.00010
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_018076.5(ODAD2):c.765C>T (p.His255=) rs147124402 0.00010
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) rs145469545 0.00010
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_001010892.3(RSPH4A):c.1920G>A (p.Lys640=) rs560185647 0.00009
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=) rs535847014 0.00009
NM_001277115.2(DNAH11):c.11457C>T (p.Pro3819=) rs201185369 0.00009
NM_001277115.2(DNAH11):c.183C>T (p.Phe61=) rs571142873 0.00009
NM_001277115.2(DNAH11):c.7311G>A (p.Glu2437=) rs762639291 0.00009
NM_001277115.2(DNAH11):c.8798-4G>A rs374160369 0.00009
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys) rs149354918 0.00009
NM_001364171.2(ODAD1):c.1689C>T (p.Ala563=) rs139270932 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.6235C>T (p.Leu2079Phe) rs371463953 0.00009
NM_003114.5(SPAG1):c.132C>T (p.Cys44=) rs376986262 0.00009
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val) rs4734455 0.00009
NM_003114.5(SPAG1):c.2769G>A (p.Gln923=) rs768865173 0.00009
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln) rs748643730 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00009
NM_017802.4(DNAAF5):c.447G>C (p.Leu149=) rs969984227 0.00009
NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val) rs900496106 0.00009
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00009
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg) rs201191082 0.00009
NM_018076.5(ODAD2):c.1218C>T (p.His406=) rs774971206 0.00009
NM_018076.5(ODAD2):c.2571C>T (p.Ser857=) rs535250584 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=) rs768024430 0.00009
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) rs764511452 0.00009
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=) rs764624773 0.00009
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=) rs759900725 0.00009
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) rs201963508 0.00009
NM_001277115.2(DNAH11):c.10627C>T (p.Leu3543Phe) rs370350252 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_003611.3(OFD1):c.1128A>C (p.Lys376Asn) rs758883184 0.00008
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295 0.00008
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=) rs199502666 0.00008
NM_012472.6(DNAAF11):c.186T>C (p.Val62=) rs112144537 0.00008
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn) rs758243927 0.00008
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=) rs560402881 0.00008
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=) rs758047721 0.00008
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=) rs371013573 0.00008
NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly) rs547213676 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr) rs374043705 0.00008
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530 0.00008
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) rs143732959 0.00007
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln) rs373489149 0.00007
NM_001256715.2(DNAAF3):c.660C>T (p.Arg220=) rs762386034 0.00007
NM_001277115.2(DNAH11):c.10440C>T (p.Thr3480=) rs369013054 0.00007
NM_001277115.2(DNAH11):c.10986A>G (p.Gly3662=) rs200604870 0.00007
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=) rs776924184 0.00007
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met) rs181603431 0.00007
NM_001277115.2(DNAH11):c.13254T>C (p.Tyr4418=) rs527548552 0.00007
NM_001277115.2(DNAH11):c.2576C>T (p.Ala859Val) rs150414068 0.00007
NM_001277115.2(DNAH11):c.2802A>G (p.Thr934=) rs755239180 0.00007
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=) rs374551688 0.00007
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu) rs745645801 0.00007
NM_001277115.2(DNAH11):c.9003C>T (p.Ala3001=) rs192542392 0.00007
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00007
NM_001364171.2(ODAD1):c.2037C>T (p.Leu679=) rs779297766 0.00007
NM_001364171.2(ODAD1):c.996G>A (p.Glu332=) rs148677470 0.00007
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00007
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00007
NM_003114.5(SPAG1):c.2397G>A (p.Pro799=) rs775891909 0.00007
NM_003114.5(SPAG1):c.495C>T (p.Asp165=) rs768687626 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_016616.5(NME8):c.311C>T (p.Pro104Leu) rs567620217 0.00007
NM_017802.4(DNAAF5):c.216C>T (p.Pro72=) rs989746256 0.00007
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=) rs367861877 0.00007
NM_018139.3(DNAAF2):c.1401C>T (p.Ser467=) rs368961585 0.00007
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=) rs139319121 0.00007
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) rs749497447 0.00007
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) rs201996796 0.00007
NM_181426.2(CCDC39):c.9C>T (p.Ser3=) rs540762763 0.00007
NC_000019.10:g.55166625C>G rs574117710 0.00006
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=) rs192924578 0.00006
NM_001256715.2(DNAAF3):c.86-60A>C rs771361438 0.00006
NM_001277115.2(DNAH11):c.10176C>T (p.Arg3392=) rs370857029 0.00006
NM_001277115.2(DNAH11):c.1545T>C (p.Cys515=) rs182332147 0.00006
NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val) rs374359812 0.00006
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=) rs372387032 0.00006
NM_001277115.2(DNAH11):c.3541A>G (p.Ser1181Gly) rs148916596 0.00006
NM_001277115.2(DNAH11):c.3726G>A (p.Ala1242=) rs772101696 0.00006
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg) rs374946621 0.00006
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=) rs377115580 0.00006
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys) rs368259931 0.00006
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala) rs373850047 0.00006
NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln) rs539314807 0.00006
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.10785G>A (p.Thr3595=) rs144055129 0.00006
NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=) rs138781046 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194 0.00006
NM_001369.3(DNAH5):c.5676T>A (p.Ile1892=) rs144828347 0.00006
NM_001369.3(DNAH5):c.573C>T (p.Asp191=) rs773770450 0.00006
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=) rs569572855 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 0.00006
NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser) rs755866717 0.00006
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00006
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp) rs149790559 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp) rs201974671 0.00006
NM_016616.5(NME8):c.967C>A (p.Arg323=) rs374455803 0.00006
NM_017802.4(DNAAF5):c.1371C>T (p.Ala457=) rs568531246 0.00006
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=) rs200650391 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_017950.4(CCDC40):c.489C>T (p.His163=) rs372917306 0.00006
NM_018139.3(DNAAF2):c.1582A>C (p.Asn528His) rs553512675 0.00006
NM_018139.3(DNAAF2):c.1674A>G (p.Lys558=) rs368097316 0.00006
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val) rs754858452 0.00006
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) rs777369529 0.00006
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) rs376164700 0.00006
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) rs142601761 0.00006
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) rs563352149 0.00005
NM_001010892.3(RSPH4A):c.896T>C (p.Val299Ala) rs750281532 0.00005
NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=) rs139855630 0.00005
NM_001256715.2(DNAAF3):c.426C>G (p.Pro142=) rs981566868 0.00005
NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val) rs543944909 0.00005
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=) rs368872150 0.00005
NM_001277115.2(DNAH11):c.5295C>T (p.Tyr1765=) rs377687532 0.00005
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=) rs368842512 0.00005
NM_001277115.2(DNAH11):c.6351C>T (p.Val2117=) rs535218781 0.00005
NM_001277115.2(DNAH11):c.663G>T (p.Met221Ile) rs371426283 0.00005
NM_001364171.2(ODAD1):c.1092C>T (p.Ser364=) rs751571535 0.00005
NM_001364171.2(ODAD1):c.1842G>A (p.Thr614=) rs368560284 0.00005
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met) rs137875815 0.00005
NM_001364171.2(ODAD1):c.785A>G (p.His262Arg) rs575514518 0.00005
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00005
NM_001369.3(DNAH5):c.11577C>G (p.Val3859=) rs756829670 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.12690C>T (p.Asp4230=) rs531483632 0.00005
NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val) rs763360696 0.00005
NM_001369.3(DNAH5):c.2079G>A (p.Glu693=) rs565939224 0.00005
NM_001369.3(DNAH5):c.300G>C (p.Gly100=) rs543407739 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.537G>A (p.Thr179=) rs370805321 0.00005
NM_001369.3(DNAH5):c.6632A>G (p.Asn2211Ser) rs561280268 0.00005
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) rs144308691 0.00005
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp) rs542159073 0.00005
NM_001369.3(DNAH5):c.8815G>A (p.Val2939Ile) rs566080915 0.00005
NM_003611.3(OFD1):c.2523C>T (p.Gly841=) rs757258869 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=) rs376177487 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.522A>G (p.Glu174=) rs534713601 0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=) rs146015192 0.00005
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=) rs139786749 0.00005
NM_016616.5(NME8):c.1467T>C (p.Thr489=) rs141799366 0.00005
NM_016616.5(NME8):c.416A>T (p.Asp139Val) rs754343759 0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=) rs373040691 0.00005
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00005
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=) rs772910548 0.00005
NM_017802.4(DNAAF5):c.466T>G (p.Cys156Gly) rs1309780632 0.00005
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=) rs201481334 0.00005
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=) rs373348755 0.00005
NM_018076.5(ODAD2):c.12T>G (p.Ala4=) rs757096123 0.00005
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu) rs531303883 0.00005
NM_018139.3(DNAAF2):c.270G>C (p.Val90=) rs767758073 0.00005
NM_018139.3(DNAAF2):c.834C>G (p.Pro278=) rs778820253 0.00005
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00005
NM_152732.5(RSPH9):c.198C>T (p.Asp66=) rs769502631 0.00005
NM_152732.5(RSPH9):c.745T>A (p.Phe249Ile) rs558538408 0.00005
NM_152732.5(RSPH9):c.746T>C (p.Phe249Ser) rs570578504 0.00005
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) rs368651695 0.00005
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=) rs149704838 0.00005
NM_181426.2(CCDC39):c.141G>A (p.Glu47=) rs373164355 0.00005
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His) rs368439919 0.00005
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=) rs781474629 0.00005
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr) rs781185543 0.00004
NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=) rs368469150 0.00004
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala) rs775837121 0.00004
NM_001277115.2(DNAH11):c.1003G>A (p.Val335Met) rs562105878 0.00004
NM_001277115.2(DNAH11):c.10791A>G (p.Gln3597=) rs1050560432 0.00004
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=) rs766635238 0.00004
NM_001277115.2(DNAH11):c.11670C>T (p.Asp3890=) rs548184198 0.00004
NM_001277115.2(DNAH11):c.12948A>G (p.Leu4316=) rs746607145 0.00004
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=) rs535761458 0.00004
NM_001277115.2(DNAH11):c.5850C>T (p.Ile1950=) rs377208329 0.00004
NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg) rs184241449 0.00004
NM_001277115.2(DNAH11):c.8343A>C (p.Gln2781His) rs568636384 0.00004
NM_001364171.2(ODAD1):c.1026C>T (p.Asn342=) rs760712197 0.00004
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn) rs201757586 0.00004
NM_001364171.2(ODAD1):c.612G>A (p.Leu204=) rs760703306 0.00004
NM_001369.3(DNAH5):c.12147G>C (p.Leu4049=) rs893230187 0.00004
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=) rs181510043 0.00004
NM_001369.3(DNAH5):c.13449G>A (p.Thr4483=) rs768159386 0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His) rs185855852 0.00004
NM_001369.3(DNAH5):c.3321T>C (p.Tyr1107=) rs1224429992 0.00004
NM_001369.3(DNAH5):c.4443G>A (p.Pro1481=) rs141196881 0.00004
NM_001369.3(DNAH5):c.5895G>A (p.Thr1965=) rs537016848 0.00004
NM_001369.3(DNAH5):c.8748C>T (p.Leu2916=) rs556119081 0.00004
NM_001369.3(DNAH5):c.888G>A (p.Lys296=) rs758680247 0.00004
NM_003114.5(SPAG1):c.1713G>A (p.Leu571=) rs778146484 0.00004
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00004
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=) rs200766993 0.00004
NM_012144.4(DNAI1):c.924T>C (p.Ala308=) rs377594689 0.00004
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) rs199705053 0.00004
NM_016616.5(NME8):c.144A>G (p.Leu48=) rs199848335 0.00004
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=) rs150096726 0.00004
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met) rs200034358 0.00004
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=) rs777084727 0.00004
NM_017802.4(DNAAF5):c.495C>T (p.Asp165=) rs1167742655 0.00004
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln) rs771414681 0.00004
NM_017950.4(CCDC40):c.882C>T (p.Ala294=) rs528463057 0.00004
NM_018076.5(ODAD2):c.1266T>C (p.Thr422=) rs531062950 0.00004
NM_018076.5(ODAD2):c.2079C>T (p.Cys693=) rs140338410 0.00004
NM_018076.5(ODAD2):c.2934C>T (p.Asn978=) rs139934178 0.00004
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=) rs759039864 0.00004
NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=) rs767668051 0.00004
NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=) rs755114164 0.00004
NM_018139.3(DNAAF2):c.549G>A (p.Arg183=) rs1209806042 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=) rs372197911 0.00004
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=) rs756189048 0.00004
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 0.00004
NM_181426.2(CCDC39):c.474C>T (p.Leu158=) rs777326219 0.00004
NM_213607.3(DNAAF19):c.138G>C (p.Glu46Asp) rs187049607 0.00004
NM_001010892.3(RSPH4A):c.341C>A (p.Thr114Lys) rs562856574 0.00003
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe) rs375014257 0.00003
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=) rs145682975 0.00003
NM_001034853.2(RPGR):c.294C>T (p.His98=) rs62638636 0.00003
NM_001034853.2(RPGR):c.972C>T (p.His324=) rs771739225 0.00003
NM_001256715.2(DNAAF3):c.-65G>C rs1371744369 0.00003
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile) rs774136369 0.00003
NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=) rs369064646 0.00003
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=) rs779990994 0.00003
NM_001256715.2(DNAAF3):c.357C>T (p.Asn119=) rs1165524335 0.00003
NM_001256715.2(DNAAF3):c.363G>A (p.Leu121=) rs551100219 0.00003
NM_001256715.2(DNAAF3):c.945G>A (p.Thr315=) rs368225337 0.00003
NM_001277115.2(DNAH11):c.10450G>A (p.Ala3484Thr) rs372745850 0.00003
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=) rs377399710 0.00003
NM_001277115.2(DNAH11):c.1072C>G (p.Arg358Gly) rs749125298 0.00003
NM_001277115.2(DNAH11):c.11469A>C (p.Leu3823=) rs776544602 0.00003
NM_001277115.2(DNAH11):c.11659A>G (p.Met3887Val) rs72658811 0.00003
NM_001277115.2(DNAH11):c.11712G>C (p.Leu3904=) rs761612271 0.00003
NM_001277115.2(DNAH11):c.11983G>C (p.Ala3995Pro) rs759909768 0.00003
NM_001277115.2(DNAH11):c.12657A>G (p.Thr4219=) rs574488123 0.00003
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=) rs530934832 0.00003
NM_001277115.2(DNAH11):c.219G>A (p.Thr73=) rs1051931486 0.00003
NM_001277115.2(DNAH11):c.4257C>T (p.Val1419=) rs1427083702 0.00003
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile) rs766901693 0.00003
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=) rs774896858 0.00003
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=) rs368278745 0.00003
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=) rs761918179 0.00003
NM_001277115.2(DNAH11):c.7126C>T (p.Leu2376=) rs549049467 0.00003
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val) rs752203815 0.00003
NM_001277115.2(DNAH11):c.7728C>T (p.Asp2576=) rs368846569 0.00003
NM_001277115.2(DNAH11):c.772A>G (p.Ile258Val) rs747435111 0.00003
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=) rs762237613 0.00003
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=) rs367806628 0.00003
NM_001277115.2(DNAH11):c.9750T>C (p.Asp3250=) rs771138501 0.00003
NM_001277115.2(DNAH11):c.9826T>C (p.Leu3276=) rs781418836 0.00003
NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His) rs749435831 0.00003
NM_001364171.2(ODAD1):c.1635C>T (p.Ala545=) rs758221101 0.00003
NM_001364171.2(ODAD1):c.284G>A (p.Arg95His) rs1002779676 0.00003
NM_001364171.2(ODAD1):c.378G>A (p.Thr126=) rs775223049 0.00003
NM_001369.3(DNAH5):c.10230G>A (p.Thr3410=) rs765000004 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00003
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=) rs572468560 0.00003
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=) rs754273700 0.00003
NM_001369.3(DNAH5):c.1611C>T (p.Tyr537=) rs367877988 0.00003
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn) rs762101328 0.00003
NM_001369.3(DNAH5):c.3408A>G (p.Thr1136=) rs762124795 0.00003
NM_001369.3(DNAH5):c.3612C>T (p.Phe1204=) rs752941536 0.00003
NM_001369.3(DNAH5):c.4179C>T (p.Gly1393=) rs904428157 0.00003
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) rs763709302 0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021 0.00003
NM_001369.3(DNAH5):c.5028C>A (p.Val1676=) rs1009389873 0.00003
NM_001369.3(DNAH5):c.7288G>A (p.Glu2430Lys) rs575491117 0.00003
NM_001369.3(DNAH5):c.833C>T (p.Ala278Val) rs776859976 0.00003
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00003
NM_003114.5(SPAG1):c.1838G>A (p.Arg613His) rs147520866 0.00003
NM_003611.3(OFD1):c.2100G>A (p.Glu700=) rs780655531 0.00003
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 0.00003
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn) rs762218314 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109 0.00003
NM_012144.4(DNAI1):c.228C>T (p.His76=) rs760014707 0.00003
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) rs915071476 0.00003
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=) rs768257025 0.00003
NM_016616.5(NME8):c.742C>A (p.Pro248Thr) rs201277639 0.00003
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys) rs773921234 0.00003
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=) rs151119269 0.00003
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=) rs751078064 0.00003
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=) rs146751534 0.00003
NM_017802.4(DNAAF5):c.432G>T (p.Ala144=) rs1438667964 0.00003
NM_017802.4(DNAAF5):c.582G>T (p.Ala194=) rs983691728 0.00003
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg) rs778572911 0.00003
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=) rs375603538 0.00003
NM_017950.4(CCDC40):c.3132C>T (p.Phe1044=) rs369736890 0.00003
NM_017950.4(CCDC40):c.387C>T (p.Tyr129=) rs557375778 0.00003
NM_018076.5(ODAD2):c.1092C>A (p.Thr364=) rs760207733 0.00003
NM_018076.5(ODAD2):c.1460A>T (p.Gln487Leu) rs773452157 0.00003
NM_018076.5(ODAD2):c.1791G>A (p.Ser597=) rs779015420 0.00003
NM_018076.5(ODAD2):c.657C>T (p.Val219=) rs765025001 0.00003
NM_018139.3(DNAAF2):c.1227C>G (p.Gly409=) rs1045466672 0.00003
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala) rs931555570 0.00003
NM_018139.3(DNAAF2):c.959T>G (p.Leu320Arg) rs767024971 0.00003
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00003
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=) rs371989598 0.00003
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=) rs372259857 0.00003
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00003
NM_023036.6(DNAI2):c.39G>A (p.Glu13=) rs533814143 0.00003
NM_152732.5(RSPH9):c.282G>A (p.Ala94=) rs151197990 0.00003
NM_152732.5(RSPH9):c.720C>T (p.Arg240=) rs749404508 0.00003
NM_152732.5(RSPH9):c.735G>A (p.Pro245=) rs769469438 0.00003
NM_178452.6(DNAAF1):c.1167C>G (p.Leu389=) rs761828683 0.00003
NM_178452.6(DNAAF1):c.1182A>G (p.Pro394=) rs139366230 0.00003
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) rs1024875120 0.00003
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=) rs769031288 0.00003
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=) rs191935750 0.00003
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=) rs144962513 0.00003
NM_181426.2(CCDC39):c.1704T>G (p.Val568=) rs753323311 0.00003
NM_213607.3(DNAAF19):c.486G>A (p.Ala162=) rs562183648 0.00003
NM_213607.3(DNAAF19):c.61A>G (p.Thr21Ala) rs531875424 0.00003
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050 0.00002
NM_001010892.3(RSPH4A):c.1158T>C (p.Asp386=) rs747771793 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001034853.2(RPGR):c.504C>T (p.Ser168=) rs1462174690 0.00002
NM_001034853.2(RPGR):c.726G>A (p.Pro242=) rs768381214 0.00002
NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=) rs899636986 0.00002
NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser) rs1018709493 0.00002
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=) rs201475447 0.00002
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=) rs768305852 0.00002
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=) rs373969291 0.00002
NM_001277115.2(DNAH11):c.444T>C (p.Phe148=) rs930817553 0.00002
NM_001277115.2(DNAH11):c.47C>T (p.Ala16Val) rs1000525671 0.00002
NM_001277115.2(DNAH11):c.4842C>T (p.Leu1614=) rs755293443 0.00002
NM_001277115.2(DNAH11):c.4843G>A (p.Ala1615Thr) rs1016473135 0.00002
NM_001277115.2(DNAH11):c.7863C>T (p.Val2621=) rs755501742 0.00002
NM_001277115.2(DNAH11):c.8374A>G (p.Arg2792Gly) rs974632237 0.00002
NM_001277115.2(DNAH11):c.9963C>T (p.Ala3321=) rs370590804 0.00002
NM_001364171.2(ODAD1):c.144A>G (p.Glu48=) rs377679653 0.00002
NM_001364171.2(ODAD1):c.1479C>G (p.Ala493=) rs777889773 0.00002
NM_001364171.2(ODAD1):c.740C>T (p.Ala247Val) rs774954250 0.00002
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.2796G>A (p.Arg932=) rs374394989 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.3908A>G (p.His1303Arg) rs748731717 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4783C>T (p.Leu1595=) rs945098046 0.00002
NM_001369.3(DNAH5):c.636T>G (p.Gly212=) rs376360357 0.00002
NM_001369.3(DNAH5):c.7377T>A (p.Ile2459=) rs200022014 0.00002
NM_001369.3(DNAH5):c.7935C>T (p.Gly2645=) rs780409299 0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=) rs373676166 0.00002
NM_003114.5(SPAG1):c.855A>T (p.Thr285=) rs753349181 0.00002
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser) rs755523044 0.00002
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile) rs771742424 0.00002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545 0.00002
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) rs780055525 0.00002
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln) rs146279923 0.00002
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=) rs756277063 0.00002
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=) rs377601344 0.00002
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) rs565034311 0.00002
NM_016616.5(NME8):c.1302C>T (p.Ser434=) rs369550926 0.00002
NM_016616.5(NME8):c.401C>T (p.Pro134Leu) rs369201077 0.00002
NM_016616.5(NME8):c.51A>G (p.Gln17=) rs764519450 0.00002
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=) rs139756611 0.00002
NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro) rs1314198845 0.00002
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=) rs143584365 0.00002
NM_017802.4(DNAAF5):c.147C>T (p.Ala49=) rs1377440284 0.00002
NM_017802.4(DNAAF5):c.183C>G (p.Gly61=) rs1284501917 0.00002
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=) rs764779473 0.00002
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=) rs754316026 0.00002
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=) rs370588837 0.00002
NM_017802.4(DNAAF5):c.426C>T (p.Arg142=) rs1464201003 0.00002
NM_017950.4(CCDC40):c.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=) rs1225610254 0.00002
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.3394A>G (p.Ile1132Val) rs569135890 0.00002
NM_017950.4(CCDC40):c.759C>T (p.Thr253=) rs183808038 0.00002
NM_018076.5(ODAD2):c.1677C>T (p.Ile559=) rs182410357 0.00002
NM_018076.5(ODAD2):c.2031C>T (p.Asn677=) rs1022012517 0.00002
NM_018076.5(ODAD2):c.844G>A (p.Val282Ile) rs191594899 0.00002
NM_018139.3(DNAAF2):c.1047G>A (p.Val349=) rs754637024 0.00002
NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=) rs201826641 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_018139.3(DNAAF2):c.676T>C (p.Tyr226His) rs566190340 0.00002
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=) rs370421003 0.00002
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=) rs750246993 0.00002
NM_023036.6(DNAI2):c.1432C>T (p.Leu478=) rs746968131 0.00002
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=) rs376265471 0.00002
NM_023036.6(DNAI2):c.894C>T (p.Ser298=) rs568996957 0.00002
NM_178452.6(DNAAF1):c.1007G>A (p.Arg336Lys) rs1029568409 0.00002
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) rs750513286 0.00002
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=) rs1196118420 0.00002
NM_000328.3(RPGR):c.2304G>A (p.Pro768=) rs781426804 0.00001
NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=) rs747764316 0.00001
NM_001010892.3(RSPH4A):c.1221A>G (p.Pro407=) rs1042214742 0.00001
NM_001010892.3(RSPH4A):c.1497T>G (p.Pro499=) rs758354149 0.00001
NM_001010892.3(RSPH4A):c.1498C>T (p.Leu500=) rs779913947 0.00001
NM_001010892.3(RSPH4A):c.1813C>A (p.Pro605Thr) rs767086063 0.00001
NM_001010892.3(RSPH4A):c.2094C>T (p.Leu698=) rs747726459 0.00001
NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=) rs755522050 0.00001
NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=) rs532331878 0.00001
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) rs752300778 0.00001
NM_001010892.3(RSPH4A):c.829T>C (p.Leu277=) rs1039701362 0.00001
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser) rs748199207 0.00001
NM_001256715.2(DNAAF3):c.-59C>T rs376972065 0.00001
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=) rs759571188 0.00001
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=) rs773677511 0.00001
NM_001256715.2(DNAAF3):c.702G>A (p.Arg234=) rs748535286 0.00001
NM_001256715.2(DNAAF3):c.951G>C (p.Leu317=) rs750912221 0.00001
NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu) rs200938793 0.00001
NM_001277115.2(DNAH11):c.1002T>C (p.Asp334=) rs370925563 0.00001
NM_001277115.2(DNAH11):c.10296G>A (p.Leu3432=) rs991207165 0.00001
NM_001277115.2(DNAH11):c.10317C>G (p.Pro3439=) rs1271974995 0.00001
NM_001277115.2(DNAH11):c.10963T>C (p.Leu3655=) rs1348999489 0.00001
NM_001277115.2(DNAH11):c.11181C>A (p.Pro3727=) rs1307164299 0.00001
NM_001277115.2(DNAH11):c.11385A>G (p.Arg3795=) rs973221126 0.00001
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=) rs537127251 0.00001
NM_001277115.2(DNAH11):c.12492C>T (p.Phe4164=) rs1472030900 0.00001
NM_001277115.2(DNAH11):c.12735G>A (p.Gln4245=) rs1396708463 0.00001
NM_001277115.2(DNAH11):c.12741A>C (p.Thr4247=) rs777902021 0.00001
NM_001277115.2(DNAH11):c.12885C>T (p.Leu4295=) rs2128048941 0.00001
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=) rs755777338 0.00001
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=) rs1489602749 0.00001
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=) rs1378301702 0.00001
NM_001277115.2(DNAH11):c.1468C>T (p.Leu490=) rs758448845 0.00001
NM_001277115.2(DNAH11):c.177G>T (p.Val59=) rs751721373 0.00001
NM_001277115.2(DNAH11):c.2028C>T (p.Thr676=) rs1784591165 0.00001
NM_001277115.2(DNAH11):c.2244C>G (p.Ala748=) rs747046328 0.00001
NM_001277115.2(DNAH11):c.2403G>A (p.Thr801=) rs767657769 0.00001
NM_001277115.2(DNAH11):c.2563C>T (p.His855Tyr) rs1252556407 0.00001
NM_001277115.2(DNAH11):c.2880C>T (p.Ser960=) rs1785014151 0.00001
NM_001277115.2(DNAH11):c.3183C>T (p.Ser1061=) rs528143053 0.00001
NM_001277115.2(DNAH11):c.3345T>C (p.Pro1115=) rs1180402925 0.00001
NM_001277115.2(DNAH11):c.3577C>T (p.Leu1193=) rs746164181 0.00001
NM_001277115.2(DNAH11):c.3714T>G (p.Pro1238=) rs780975797 0.00001
NM_001277115.2(DNAH11):c.4014A>G (p.Arg1338=) rs752711407 0.00001
NM_001277115.2(DNAH11):c.4164G>A (p.Lys1388=) rs377689546 0.00001
NM_001277115.2(DNAH11):c.4209T>A (p.Pro1403=) rs1347131272 0.00001
NM_001277115.2(DNAH11):c.4401C>T (p.Thr1467=) rs769796760 0.00001
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=) rs768404181 0.00001
NM_001277115.2(DNAH11):c.459G>A (p.Ala153=) rs770376516 0.00001
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=) rs72657324 0.00001
NM_001277115.2(DNAH11):c.5043C>T (p.Ser1681=) rs1374986860 0.00001
NM_001277115.2(DNAH11):c.5067C>T (p.Phe1689=) rs374856649 0.00001
NM_001277115.2(DNAH11):c.5283G>C (p.Leu1761=) rs1060504813 0.00001
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=) rs373354778 0.00001
NM_001277115.2(DNAH11):c.5613A>G (p.Leu1871=) rs546155868 0.00001
NM_001277115.2(DNAH11):c.6078C>T (p.Ile2026=) rs769000578 0.00001
NM_001277115.2(DNAH11):c.6687T>C (p.Ile2229=) rs1254552538 0.00001
NM_001277115.2(DNAH11):c.678T>C (p.Asn226=) rs749387527 0.00001
NM_001277115.2(DNAH11):c.7085G>C (p.Arg2362Thr) rs761114761 0.00001
NM_001277115.2(DNAH11):c.7104C>A (p.Ile2368=) rs764940440 0.00001
NM_001277115.2(DNAH11):c.7486A>G (p.Met2496Val) rs776955021 0.00001
NM_001277115.2(DNAH11):c.7527A>G (p.Val2509=) rs745441939 0.00001
NM_001277115.2(DNAH11):c.7887C>T (p.Gly2629=) rs1260674153 0.00001
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=) rs764608320 0.00001
NM_001277115.2(DNAH11):c.8146G>A (p.Val2716Ile) rs368833424 0.00001
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=) rs570532098 0.00001
NM_001277115.2(DNAH11):c.8639C>G (p.Thr2880Ser) rs1786270841 0.00001
NM_001277115.2(DNAH11):c.8805C>A (p.Ile2935=) rs985677182 0.00001
NM_001277115.2(DNAH11):c.8958T>G (p.Ser2986=) rs1284717783 0.00001
NM_001277115.2(DNAH11):c.9219T>C (p.Ser3073=) rs1326485426 0.00001
NM_001277115.2(DNAH11):c.925A>G (p.Thr309Ala) rs563007836 0.00001
NM_001277115.2(DNAH11):c.9294C>T (p.Arg3098=) rs562256432 0.00001
NM_001277115.2(DNAH11):c.9396T>C (p.His3132=) rs987268164 0.00001
NM_001277115.2(DNAH11):c.9462C>T (p.Ile3154=) rs764817397 0.00001
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=) rs758640720 0.00001
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=) rs376448045 0.00001
NM_001277115.2(DNAH11):c.9921T>C (p.Tyr3307=) rs369440793 0.00001
NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg) rs780566776 0.00001
NM_001364171.2(ODAD1):c.1260C>G (p.Thr420=) rs1968365123 0.00001
NM_001364171.2(ODAD1):c.1272C>T (p.Cys424=) rs555664154 0.00001
NM_001364171.2(ODAD1):c.1690G>A (p.Gly564Ser) rs1449817807 0.00001
NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly) rs1281163225 0.00001
NM_001364171.2(ODAD1):c.741G>A (p.Ala247=) rs771518813 0.00001
NM_001364171.2(ODAD1):c.822T>C (p.Asp274=) rs767173437 0.00001
NM_001364171.2(ODAD1):c.936C>T (p.Ser312=) rs769701772 0.00001
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800 0.00001
NM_001369.3(DNAH5):c.10644G>A (p.Lys3548=) rs2126701753 0.00001
NM_001369.3(DNAH5):c.10782C>T (p.Val3594=) rs2126700829 0.00001
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.10992G>A (p.Leu3664=) rs766709160 0.00001
NM_001369.3(DNAH5):c.11298C>T (p.Tyr3766=) rs757118886 0.00001
NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly) rs771759145 0.00001
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) rs774415631 0.00001
NM_001369.3(DNAH5):c.11601G>A (p.Arg3867=) rs535536722 0.00001
NM_001369.3(DNAH5):c.11631C>T (p.Tyr3877=) rs776957889 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12426C>T (p.Leu4142=) rs543738890 0.00001
NM_001369.3(DNAH5):c.12630C>T (p.Tyr4210=) rs766099303 0.00001
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=) rs776552880 0.00001
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=) rs1472495875 0.00001
NM_001369.3(DNAH5):c.1299A>C (p.Leu433=) rs767772562 0.00001
NM_001369.3(DNAH5):c.13023C>G (p.Pro4341=) rs762564245 0.00001
NM_001369.3(DNAH5):c.13194C>T (p.Asp4398=) rs769150763 0.00001
NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=) rs780159177 0.00001
NM_001369.3(DNAH5):c.13719C>T (p.Asn4573=) rs747291233 0.00001
NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=) rs1254287410 0.00001
NM_001369.3(DNAH5):c.1584G>A (p.Gln528=) rs769824207 0.00001
NM_001369.3(DNAH5):c.1855A>G (p.Asn619Asp) rs754051313 0.00001
NM_001369.3(DNAH5):c.2223A>G (p.Lys741=) rs371817187 0.00001
NM_001369.3(DNAH5):c.2499A>G (p.Glu833=) rs369887785 0.00001
NM_001369.3(DNAH5):c.2817G>A (p.Thr939=) rs1338338371 0.00001
NM_001369.3(DNAH5):c.3040G>A (p.Val1014Ile) rs778469881 0.00001
NM_001369.3(DNAH5):c.3060C>T (p.Asn1020=) rs777905258 0.00001
NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=) rs780565363 0.00001
NM_001369.3(DNAH5):c.3906G>A (p.Leu1302=) rs756702210 0.00001
NM_001369.3(DNAH5):c.4293T>C (p.Asp1431=) rs373649273 0.00001
NM_001369.3(DNAH5):c.4737G>A (p.Ser1579=) rs938971019 0.00001
NM_001369.3(DNAH5):c.5343A>G (p.Ala1781=) rs1468241760 0.00001
NM_001369.3(DNAH5):c.5436A>G (p.Gln1812=) rs746150570 0.00001
NM_001369.3(DNAH5):c.594G>A (p.Glu198=) rs769718109 0.00001
NM_001369.3(DNAH5):c.6000C>T (p.Tyr2000=) rs773208371 0.00001
NM_001369.3(DNAH5):c.6162A>C (p.Thr2054=) rs913362638 0.00001
NM_001369.3(DNAH5):c.6198T>C (p.Thr2066=) rs1763431235 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6553C>T (p.Leu2185=) rs1254706379 0.00001
NM_001369.3(DNAH5):c.6786G>T (p.Gly2262=) rs749772293 0.00001
NM_001369.3(DNAH5):c.7092T>C (p.Gly2364=) rs774617981 0.00001
NM_001369.3(DNAH5):c.7299A>G (p.Pro2433=) rs747463097 0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138 0.00001
NM_001369.3(DNAH5):c.7557G>A (p.Pro2519=) rs1277087280 0.00001
NM_001369.3(DNAH5):c.7632G>A (p.Thr2544=) rs574355717 0.00001
NM_001369.3(DNAH5):c.7924A>G (p.Thr2642Ala) rs375094026 0.00001
NM_001369.3(DNAH5):c.7929A>G (p.Thr2643=) rs755546086 0.00001
NM_001369.3(DNAH5):c.792A>G (p.Thr264=) rs1358293206 0.00001
NM_001369.3(DNAH5):c.7944G>A (p.Ala2648=) rs942441992 0.00001
NM_001369.3(DNAH5):c.8091C>T (p.Ile2697=) rs754038916 0.00001
NM_001369.3(DNAH5):c.846G>A (p.Gly282=) rs748702437 0.00001
NM_001369.3(DNAH5):c.8505A>G (p.Thr2835=) rs765999228 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.8842C>T (p.Pro2948Ser) rs374634044 0.00001
NM_001369.3(DNAH5):c.8865C>T (p.Val2955=) rs564462253 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.921G>A (p.Pro307=) rs1247275415 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.9987G>A (p.Leu3329=) rs372955295 0.00001
NM_003114.5(SPAG1):c.1083C>T (p.Gly361=) rs752424284 0.00001
NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln) rs772098225 0.00001
NM_003114.5(SPAG1):c.1314C>T (p.Gly438=) rs764792306 0.00001
NM_003114.5(SPAG1):c.1347G>A (p.Lys449=) rs1410946276 0.00001
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val) rs745418167 0.00001
NM_003114.5(SPAG1):c.2211C>T (p.Leu737=) rs762424146 0.00001
NM_003114.5(SPAG1):c.2314G>T (p.Ala772Ser) rs757463105 0.00001
NM_003114.5(SPAG1):c.2385T>C (p.Pro795=) rs909523206 0.00001
NM_003114.5(SPAG1):c.2661A>G (p.Thr887=) rs773106106 0.00001
NM_003114.5(SPAG1):c.288T>C (p.Asp96=) rs1220772934 0.00001
NM_003114.5(SPAG1):c.543G>A (p.Thr181=) rs1056605409 0.00001
NM_003611.3(OFD1):c.1205G>A (p.Arg402His) rs1283023888 0.00001
NM_003611.3(OFD1):c.1500C>T (p.Phe500=) rs775685381 0.00001
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) rs757923355 0.00001
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys) rs769469366 0.00001
NM_003611.3(OFD1):c.2778G>T (p.Leu926=) rs2518998297 0.00001
NM_003611.3(OFD1):c.2970G>A (p.Thr990=) rs1602946302 0.00001
NM_003611.3(OFD1):c.485A>G (p.Gln162Arg) rs1325832303 0.00001
NM_003611.3(OFD1):c.495G>C (p.Ser165=) rs764608728 0.00001
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=) rs1368857115 0.00001
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=) rs1175634371 0.00001
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=) rs201345286 0.00001
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=) rs548602580 0.00001
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val) rs727502978 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.282T>C (p.Ile94=) rs374541022 0.00001
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=) rs1381675903 0.00001
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) rs774194116 0.00001
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=) rs1200377340 0.00001
NM_016616.5(NME8):c.1173C>T (p.Asp391=) rs769139557 0.00001
NM_016616.5(NME8):c.171C>T (p.Asn57=) rs180763598 0.00001
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=) rs566588440 0.00001
NM_017802.4(DNAAF5):c.1128A>C (p.Arg376=) rs753803162 0.00001
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met) rs777008597 0.00001
NM_017802.4(DNAAF5):c.141G>T (p.Arg47=) rs1188978283 0.00001
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=) rs1302246575 0.00001
NM_017802.4(DNAAF5):c.1563C>T (p.Asp521=) rs754692782 0.00001
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=) rs771906023 0.00001
NM_017802.4(DNAAF5):c.2065G>A (p.Val689Ile) rs772441913 0.00001
NM_017802.4(DNAAF5):c.213C>T (p.Gly71=) rs957022559 0.00001
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=) rs762744998 0.00001
NM_017802.4(DNAAF5):c.2389C>T (p.His797Tyr) rs772896273 0.00001
NM_017802.4(DNAAF5):c.63G>C (p.Thr21=) rs1054283683 0.00001
NM_017950.4(CCDC40):c.1056C>T (p.His352=) rs771256494 0.00001
NM_017950.4(CCDC40):c.1062G>A (p.Met354Ile) rs752518237 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.1305G>A (p.Glu435=) rs558483927 0.00001
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His) rs200084360 0.00001
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser) rs936824026 0.00001
NM_017950.4(CCDC40):c.166G>A (p.Val56Ile) rs2037228215 0.00001
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382 0.00001
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln) rs774558527 0.00001
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) rs376911979 0.00001
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=) rs745925890 0.00001
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=) rs779599093 0.00001
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=) rs1028095921 0.00001
NM_017950.4(CCDC40):c.315G>A (p.Gly105=) rs1398449246 0.00001
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=) rs758698381 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.335C>T (p.Thr112Met) rs1229219183 0.00001
NM_017950.4(CCDC40):c.345G>A (p.Pro115=) rs561961621 0.00001
NM_017950.4(CCDC40):c.414C>T (p.Leu138=) rs972409552 0.00001
NM_017950.4(CCDC40):c.550T>C (p.Leu184=) rs755069671 0.00001
NM_017950.4(CCDC40):c.705C>T (p.His235=) rs564111905 0.00001
NM_017950.4(CCDC40):c.792C>T (p.Ser264=) rs755272659 0.00001
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=) rs75389371 0.00001
NM_018076.5(ODAD2):c.1344A>C (p.Pro448=) rs373921442 0.00001
NM_018076.5(ODAD2):c.1908G>A (p.Leu636=) rs749398179 0.00001
NM_018076.5(ODAD2):c.2190G>A (p.Glu730=) rs758249171 0.00001
NM_018076.5(ODAD2):c.2271C>G (p.Ala757=) rs112483026 0.00001
NM_018076.5(ODAD2):c.3108T>C (p.Leu1036=) rs200934236 0.00001
NM_018076.5(ODAD2):c.690A>G (p.Glu230=) rs371977694 0.00001
NM_018076.5(ODAD2):c.731G>A (p.Arg244His) rs770059788 0.00001
NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=) rs556012190 0.00001
NM_018139.3(DNAAF2):c.1467T>C (p.Asp489=) rs201056459 0.00001
NM_018139.3(DNAAF2):c.1572G>C (p.Pro524=) rs759088400 0.00001
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=) rs754820834 0.00001
NM_018139.3(DNAAF2):c.1638A>G (p.Gln546=) rs927281714 0.00001
NM_018139.3(DNAAF2):c.174G>A (p.Ala58=) rs781155100 0.00001
NM_018139.3(DNAAF2):c.1839T>C (p.Tyr613=) rs760162304 0.00001
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=) rs997727890 0.00001
NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=) rs1379567917 0.00001
NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=) rs1594602058 0.00001
NM_018139.3(DNAAF2):c.381C>T (p.Pro127=) rs1883293055 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_018139.3(DNAAF2):c.703G>A (p.Gly235Arg) rs772389470 0.00001
NM_018139.3(DNAAF2):c.732G>A (p.Ala244=) rs570329974 0.00001
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=) rs537816710 0.00001
NM_023036.6(DNAI2):c.198G>A (p.Arg66=) rs763731811 0.00001
NM_023036.6(DNAI2):c.252C>T (p.Asp84=) rs778114743 0.00001
NM_023036.6(DNAI2):c.45G>A (p.Gly15=) rs751121542 0.00001
NM_023036.6(DNAI2):c.648G>A (p.Ser216=) rs372009842 0.00001
NM_023036.6(DNAI2):c.664T>C (p.Leu222=) rs765870884 0.00001
NM_152732.5(RSPH9):c.753T>C (p.His251=) rs2532864905 0.00001
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro) rs932149217 0.00001
NM_178452.6(DNAAF1):c.1131A>G (p.Leu377=) rs138200496 0.00001
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00001
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=) rs2088408495 0.00001
NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=) rs747916153 0.00001
NM_178452.6(DNAAF1):c.1798A>G (p.Thr600Ala) rs199630305 0.00001
NM_178452.6(DNAAF1):c.1806T>C (p.Thr602=) rs145760481 0.00001
NM_178452.6(DNAAF1):c.2019T>C (p.Thr673=) rs1431166098 0.00001
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) rs772036783 0.00001
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) rs775618173 0.00001
NM_178452.6(DNAAF1):c.33T>C (p.Gly11=) rs1161424646 0.00001
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=) rs764006229 0.00001
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=) rs759831401 0.00001
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=) rs373094293 0.00001
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=) rs1335379185 0.00001
NM_181426.2(CCDC39):c.1557T>C (p.His519=) rs751898902 0.00001
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=) rs370618523 0.00001
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=) rs774871939 0.00001
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=) rs770356376 0.00001
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=) rs1030308648 0.00001
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=) rs971075780 0.00001
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=) rs747568407 0.00001
NM_181426.2(CCDC39):c.255T>C (p.His85=) rs769151570 0.00001
NM_181426.2(CCDC39):c.669C>A (p.Leu223=) rs774386573 0.00001
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) rs576805965 0.00001
NM_213607.3(DNAAF19):c.348G>C (p.Gly116=) rs575078578 0.00001
NM_213607.3(DNAAF19):c.558A>C (p.Ala186=) rs1034464450 0.00001
NM_213607.3(DNAAF19):c.72G>A (p.Glu24=) rs752532336 0.00001
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=) rs1360592729
NM_000328.3(RPGR):c.2172T>C (p.Asp724=) rs2066878031
NM_000328.3(RPGR):c.2439A>G (p.Thr813=) rs1269822165
NM_001010892.3(RSPH4A):c.1185A>C (p.Glu395Asp) rs2482803199
NM_001010892.3(RSPH4A):c.1410C>T (p.Ile470=) rs775326896
NM_001010892.3(RSPH4A):c.1641T>C (p.His547=) rs201238941
NM_001010892.3(RSPH4A):c.1803T>A (p.Ile601=) rs759290763
NM_001010892.3(RSPH4A):c.2133G>A (p.Glu711=)
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu) rs1775514576
NM_001010892.3(RSPH4A):c.453A>G (p.Gln151=)
NM_001010892.3(RSPH4A):c.456G>A (p.Gln152=)
NM_001010892.3(RSPH4A):c.495C>T (p.Asp165=) rs767593671
NM_001010892.3(RSPH4A):c.555C>T (p.Asp185=)
NM_001010892.3(RSPH4A):c.585G>T (p.Pro195=) rs1562388031
NM_001010892.3(RSPH4A):c.675G>A (p.Ser225=) rs79327004
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val) rs2519836277
NM_001034853.2(RPGR):c.1125T>A (p.Ile375=)
NM_001034853.2(RPGR):c.1728C>G (p.Ile576Met)
NM_001034853.2(RPGR):c.417G>A (p.Glu139=) rs777541233
NM_001034853.2(RPGR):c.528T>C (p.Asn176=) rs2519889109
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile) rs751501198
NM_001034853.2(RPGR):c.711G>C (p.Leu237=)
NM_001256715.2(DNAAF3):c.1131C>G (p.Asn377Lys) rs368717048
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=) rs1228746764
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=) rs1416853193
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp) rs372161739
NM_001256715.2(DNAAF3):c.1377A>G (p.Glu459=)
NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro) rs1360301530
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=) rs761236489
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=) rs371199276
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=) rs1056296743
NM_001256715.2(DNAAF3):c.852C>A (p.Ala284=)
NM_001256715.2(DNAAF3):c.936C>T (p.His312=) rs1257841129
NM_001277115.2(DNAH11):c.10110C>T (p.Asn3370=) rs746877733
NM_001277115.2(DNAH11):c.10129A>G (p.Lys3377Glu) rs765363031
NM_001277115.2(DNAH11):c.10242G>A (p.Thr3414=) rs559218045
NM_001277115.2(DNAH11):c.10437C>T (p.Ser3479=) rs1230187187
NM_001277115.2(DNAH11):c.1075A>G (p.Ile359Val) rs2534495831
NM_001277115.2(DNAH11):c.10800A>T (p.Thr3600=) rs1199435797
NM_001277115.2(DNAH11):c.10903T>C (p.Leu3635=) rs2535463746
NM_001277115.2(DNAH11):c.11212G>A (p.Val3738Met) rs777903360
NM_001277115.2(DNAH11):c.11289C>T (p.Ser3763=) rs2535494184
NM_001277115.2(DNAH11):c.11446C>T (p.His3816Tyr) rs745855957
NM_001277115.2(DNAH11):c.11449C>T (p.Leu3817=) rs902179397
NM_001277115.2(DNAH11):c.11505C>T (p.Ala3835=) rs762186712
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.11508C>T (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.11712G>A (p.Leu3904=) rs761612271
NM_001277115.2(DNAH11):c.11724T>C (p.Tyr3908=)
NM_001277115.2(DNAH11):c.11799G>C (p.Leu3933=)
NM_001277115.2(DNAH11):c.12135T>C (p.Thr4045=) rs2128038712
NM_001277115.2(DNAH11):c.12177C>G (p.Ala4059=) rs2534056737
NM_001277115.2(DNAH11):c.12393A>G (p.Pro4131=) rs1448612961
NM_001277115.2(DNAH11):c.1260G>T (p.Val420=) rs1583489655
NM_001277115.2(DNAH11):c.12711A>C (p.Ala4237=) rs763598195
NM_001277115.2(DNAH11):c.12714C>T (p.Leu4238=) rs1784366071
NM_001277115.2(DNAH11):c.13113G>C (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13119C>T (p.Val4373=) rs774789390
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.13176G>T (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.13263G>A (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=) rs187353983
NM_001277115.2(DNAH11):c.1643A>T (p.Asp548Val) rs374191991
NM_001277115.2(DNAH11):c.1692C>G (p.Gly564=) rs751008165
NM_001277115.2(DNAH11):c.1778G>A (p.Ser593Asn) rs754774362
NM_001277115.2(DNAH11):c.2292C>G (p.Asp764Glu) rs767104873
NM_001277115.2(DNAH11):c.2487C>T (p.Arg829=)
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser) rs375268953
NM_001277115.2(DNAH11):c.2703G>C (p.Leu901=) rs753367919
NM_001277115.2(DNAH11):c.2974A>G (p.Thr992Ala) rs757068316
NM_001277115.2(DNAH11):c.3111C>T (p.His1037=)
NM_001277115.2(DNAH11):c.3435G>A (p.Glu1145=) rs1349828360
NM_001277115.2(DNAH11):c.3588G>T (p.Thr1196=) rs375767160
NM_001277115.2(DNAH11):c.3597C>T (p.Leu1199=) rs1785090298
NM_001277115.2(DNAH11):c.3800A>G (p.His1267Arg) rs2534655157
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=) rs570983771
NM_001277115.2(DNAH11):c.4173A>G (p.Thr1391=)
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277115.2(DNAH11):c.4599C>T (p.Ile1533=) rs1031903018
NM_001277115.2(DNAH11):c.4644C>T (p.Ser1548=) rs375661112
NM_001277115.2(DNAH11):c.4689T>C (p.Asp1563=) rs2534772497
NM_001277115.2(DNAH11):c.4788C>T (p.Leu1596=)
NM_001277115.2(DNAH11):c.5139G>C (p.Thr1713=) rs758984750
NM_001277115.2(DNAH11):c.5157A>C (p.Thr1719=) rs149538783
NM_001277115.2(DNAH11):c.5427C>T (p.Ala1809=) rs372177670
NM_001277115.2(DNAH11):c.5634C>A (p.Thr1878=) rs1200515144
NM_001277115.2(DNAH11):c.6121G>T (p.Ala2041Ser) rs1440723245
NM_001277115.2(DNAH11):c.6279C>A (p.Leu2093=) rs1192869606
NM_001277115.2(DNAH11):c.6360G>A (p.Leu2120=) rs1784189630
NM_001277115.2(DNAH11):c.649G>A (p.Val217Ile) rs1783331179
NM_001277115.2(DNAH11):c.6534A>G (p.Thr2178=) rs1248330170
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=) rs200894470
NM_001277115.2(DNAH11):c.6698A>G (p.Tyr2233Cys) rs182160568
NM_001277115.2(DNAH11):c.6780C>G (p.Gly2260=) rs377115580
NM_001277115.2(DNAH11):c.680G>C (p.Cys227Ser) rs140085329
NM_001277115.2(DNAH11):c.6902A>T (p.His2301Leu)
NM_001277115.2(DNAH11):c.7068A>G (p.Ala2356=) rs773805632
NM_001277115.2(DNAH11):c.715A>G (p.Ile239Val) rs981629773
NM_001277115.2(DNAH11):c.7570T>A (p.Leu2524Met) rs2072220
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=) rs753465818
NM_001277115.2(DNAH11):c.7585G>C (p.Glu2529Gln) rs2535083777
NM_001277115.2(DNAH11):c.7749G>C (p.Val2583=) rs1785736786
NM_001277115.2(DNAH11):c.7758T>C (p.Tyr2586=) rs766226365
NM_001277115.2(DNAH11):c.8028C>T (p.Leu2676=) rs2535107859
NM_001277115.2(DNAH11):c.8614C>T (p.Arg2872Cys) rs760273596
NM_001277115.2(DNAH11):c.870C>T (p.Cys290=) rs1157677299
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn) rs538735006
NM_001277115.2(DNAH11):c.9345T>C (p.Asp3115=) rs771886434
NM_001277115.2(DNAH11):c.93C>T (p.Gly31=) rs1219460682
NM_001277115.2(DNAH11):c.9627C>G (p.Pro3209=) rs200256329
NM_001277115.2(DNAH11):c.9790C>T (p.Pro3264Ser) rs571709285
NM_001364171.2(ODAD1):c.1029G>A (p.Glu343=)
NM_001364171.2(ODAD1):c.1145T>A (p.Val382Glu)
NM_001364171.2(ODAD1):c.1318G>C (p.Gly440Arg)
NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=) rs2515927663
NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=) rs199822195
NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup) rs761748771
NM_001364171.2(ODAD1):c.1638C>T (p.Ala546=) rs764932103
NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=) rs2515924785
NM_001364171.2(ODAD1):c.1927G>T (p.Ala643Ser) rs201571963
NM_001364171.2(ODAD1):c.285C>T (p.Arg95=) rs2515958521
NM_001364171.2(ODAD1):c.556G>T (p.Asp186Tyr) rs372015636
NM_001364171.2(ODAD1):c.577G>A (p.Val193Met)
NM_001364171.2(ODAD1):c.807C>T (p.Asn269=) rs200808081
NM_001364171.2(ODAD1):c.874G>A (p.Val292Ile) rs571330368
NM_001364171.2(ODAD1):c.933G>C (p.Leu311=)
NM_001364171.2(ODAD1):c.990C>T (p.Ile330=) rs734498
NM_001369.3(DNAH5):c.10218T>C (p.Leu3406=)
NM_001369.3(DNAH5):c.10422C>T (p.Thr3474=) rs2546618911
NM_001369.3(DNAH5):c.10440G>A (p.Glu3480=) rs1485742988
NM_001369.3(DNAH5):c.1071T>A (p.Pro357=) rs2547137768
NM_001369.3(DNAH5):c.10767A>G (p.Gln3589=)
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=) rs371211976
NM_001369.3(DNAH5):c.11092T>C (p.Leu3698=) rs1489390120
NM_001369.3(DNAH5):c.11547C>T (p.Gly3849=) rs772181765
NM_001369.3(DNAH5):c.11802A>G (p.Pro3934=) rs2546547254
NM_001369.3(DNAH5):c.11961T>C (p.Tyr3987=) rs2546541866
NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=) rs2546524682
NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=) rs2546517341
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile) rs138045391
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.13254T>C (p.Ile4418=) rs2126455593
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.159C>T (p.Thr53=) rs773322142
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=) rs139160176
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.2520T>C (p.Leu840=) rs1416452557
NM_001369.3(DNAH5):c.255A>G (p.Gln85=) rs377179099
NM_001369.3(DNAH5):c.2578-11_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-25dup rs71600031
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.2659T>C (p.Leu887=) rs2547042703
NM_001369.3(DNAH5):c.2810T>C (p.Leu937Pro)
NM_001369.3(DNAH5):c.2821G>A (p.Val941Ile) rs370080157
NM_001369.3(DNAH5):c.2866C>T (p.Arg956Cys) rs151039897
NM_001369.3(DNAH5):c.2867G>C (p.Arg956Pro) rs752260329
NM_001369.3(DNAH5):c.3219A>G (p.Glu1073=) rs2151938127
NM_001369.3(DNAH5):c.3222C>T (p.Asp1074=) rs1771849259
NM_001369.3(DNAH5):c.3615C>T (p.Ala1205=) rs1770016530
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=) rs369432984
NM_001369.3(DNAH5):c.4053+150_4053+151dup rs3058927
NM_001369.3(DNAH5):c.4053+150_4053+152dup rs3058927
NM_001369.3(DNAH5):c.4053+150dup rs3058927
NM_001369.3(DNAH5):c.4098C>T (p.Asp1366=) rs1263441445
NM_001369.3(DNAH5):c.4824T>C (p.Ile1608=) rs1016408037
NM_001369.3(DNAH5):c.5115-5_5115-4delinsCC rs2151870553
NM_001369.3(DNAH5):c.5142T>C (p.Phe1714=) rs2151870424
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=) rs201484389
NM_001369.3(DNAH5):c.5272-15del rs35337694
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001369.3(DNAH5):c.5272-16_5272-15del rs35337694
NM_001369.3(DNAH5):c.5272-17_5272-15del rs35337694
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) rs763656985
NM_001369.3(DNAH5):c.5733C>T (p.Pro1911=) rs1764871933
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=) rs112389411
NM_001369.3(DNAH5):c.57G>T (p.Thr19=) rs142969794
NM_001369.3(DNAH5):c.5994G>C (p.Gly1998=) rs1171499406
NM_001369.3(DNAH5):c.6382G>A (p.Val2128Ile) rs754976621
NM_001369.3(DNAH5):c.6402T>C (p.Phe2134=) rs1376548457
NM_001369.3(DNAH5):c.6528G>T (p.Thr2176=) rs768101989
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=) rs774606797
NM_001369.3(DNAH5):c.7089T>C (p.Asn2363=) rs547828965
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=) rs561666802
NM_001369.3(DNAH5):c.7459G>T (p.Ala2487Ser)
NM_001369.3(DNAH5):c.7473C>T (p.Ser2491=) rs1163482951
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7905T>C (p.Tyr2635=)
NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=) rs375287005
NM_001369.3(DNAH5):c.8242C>T (p.His2748Tyr)
NM_001369.3(DNAH5):c.8817C>T (p.Val2939=)
NM_001369.3(DNAH5):c.8841T>C (p.Thr2947=) rs2546696862
NM_001369.3(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.3(DNAH5):c.8961C>T (p.Asn2987=) rs973106947
NM_001369.3(DNAH5):c.9091T>C (p.Leu3031=)
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn) rs1171709721
NM_001369.3(DNAH5):c.9157G>A (p.Ala3053Thr) rs1244861228
NM_001369.3(DNAH5):c.9222C>T (p.Phe3074=) rs1214502696
NM_001369.3(DNAH5):c.9630C>G (p.Leu3210=) rs910986442
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9933G>A (p.Thr3311=) rs376212341
NM_003114.5(SPAG1):c.1242G>C (p.Ala414=) rs760676415
NM_003114.5(SPAG1):c.1275G>A (p.Ala425=)
NM_003114.5(SPAG1):c.1338C>T (p.Ala446=) rs2514681
NM_003114.5(SPAG1):c.1830C>T (p.Ser610=) rs1179789423
NM_003114.5(SPAG1):c.1873G>A (p.Ala625Thr)
NM_003114.5(SPAG1):c.2331G>A (p.Met777Ile)
NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp) rs1175188961
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile) rs556715100
NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln) rs750321216
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1365A>G (p.Lys455=) rs1395917057
NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)
NM_003611.3(OFD1):c.1662G>A (p.Glu554=) rs1238971253
NM_003611.3(OFD1):c.1992A>T (p.Pro664=) rs2518939266
NM_003611.3(OFD1):c.2193C>T (p.Ser731=)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu) rs753498008
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2595C>A (p.His865Gln) rs2518971763
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.2655G>A (p.Gln885=) rs2518990672
NM_003611.3(OFD1):c.2758-4A>G rs1555908820
NM_003611.3(OFD1):c.2880A>G (p.Lys960=) rs766349657
NM_003611.3(OFD1):c.3024A>C (p.Leu1008=) rs1015323092
NM_003611.3(OFD1):c.829-287del rs35839446
NM_003611.3(OFD1):c.829-287dup rs35839446
NM_003611.3(OFD1):c.829-288_829-287del rs35839446
NM_003611.3(OFD1):c.870A>G (p.Leu290=) rs2047422874
NM_003611.3(OFD1):c.909G>A (p.Leu303=) rs2047424118
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1545C>T (p.Gly515=)
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=) rs1454471693
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=) rs2132086682
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=) rs1377892484
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=) rs368167391
NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr) rs776429452
NM_012472.6(DNAAF11):c.316A>G (p.Ile106Val)
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=) rs200925027
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) rs144399982
NM_016616.5(NME8):c.138A>G (p.Gln46=) rs2483605618
NM_016616.5(NME8):c.1515T>C (p.Phe505=) rs2483672641
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) rs142525551
NM_016616.5(NME8):c.1689C>T (p.Asn563=) rs138317061
NM_016616.5(NME8):c.1743C>A (p.Leu581=) rs764326102
NM_016616.5(NME8):c.1743C>T (p.Leu581=) rs764326102
NM_016616.5(NME8):c.328G>A (p.Val110Ile)
NM_016616.5(NME8):c.342C>T (p.Ile114=) rs199734697
NM_016616.5(NME8):c.574C>T (p.Leu192Phe) rs2483627782
NM_016616.5(NME8):c.984T>C (p.His328=)
NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro) rs1184837316
NM_017802.4(DNAAF5):c.1005A>C (p.Pro335=) rs1164717028
NM_017802.4(DNAAF5):c.1028G>A (p.Arg343His)
NM_017802.4(DNAAF5):c.114G>T (p.Leu38=) rs1411422606
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=) rs2484101697
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=) rs1008026692
NM_017802.4(DNAAF5):c.1324T>C (p.Ser442Pro)
NM_017802.4(DNAAF5):c.1473C>T (p.Asp491=)
NM_017802.4(DNAAF5):c.1526A>G (p.His509Arg)
NM_017802.4(DNAAF5):c.1569G>C (p.Leu523=)
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=) rs200806559
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=) rs185154075
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala) rs2484154327
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=) rs1778886118
NM_017802.4(DNAAF5):c.2403A>G (p.Pro801=)
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=) rs2484003438
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=) rs1562369494
NM_017802.4(DNAAF5):c.528C>G (p.Leu176=) rs1358007541
NM_017802.4(DNAAF5):c.543C>G (p.Ala181=) rs768388987
NM_017802.4(DNAAF5):c.543C>T (p.Ala181=) rs768388987
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=) rs370516537
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=) rs146014916
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=) rs146014916
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln) rs201059622
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=) rs746745698
NM_017950.4(CCDC40):c.1068G>C (p.Ser356=) rs377156300
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=) rs368929374
NM_017950.4(CCDC40):c.1844G>A (p.Arg615His)
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2290G>A (p.Asp764Asn)
NM_017950.4(CCDC40):c.2572G>C (p.Glu858Gln) rs2510317223
NM_017950.4(CCDC40):c.2875C>T (p.Arg959Cys)
NM_017950.4(CCDC40):c.3027C>A (p.Thr1009=) rs79588289
NM_017950.4(CCDC40):c.3158G>A (p.Arg1053Gln)
NM_017950.4(CCDC40):c.3195C>T (p.Ile1065=)
NM_017950.4(CCDC40):c.3198G>A (p.Val1066=) rs1474065129
NM_017950.4(CCDC40):c.3338G>A (p.Arg1113His) rs368814379
NM_017950.4(CCDC40):c.336G>T (p.Thr112=) rs539062213
NM_017950.4(CCDC40):c.3384C>T (p.Val1128=)
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.490G>C (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.564A>G (p.Thr188=) rs2037448406
NM_018076.5(ODAD2):c.1047G>C (p.Arg349Ser)
NM_018076.5(ODAD2):c.1237C>T (p.Arg413Trp)
NM_018076.5(ODAD2):c.1302A>T (p.Glu434Asp)
NM_018076.5(ODAD2):c.1320T>C (p.Arg440=) rs2493970986
NM_018076.5(ODAD2):c.1331G>A (p.Ser444Asn) rs1295997421
NM_018076.5(ODAD2):c.135T>C (p.His45=)
NM_018076.5(ODAD2):c.1752A>G (p.Leu584=) rs368560892
NM_018076.5(ODAD2):c.183A>G (p.Thr61=)
NM_018076.5(ODAD2):c.2154C>T (p.Pro718=) rs1270480857
NM_018076.5(ODAD2):c.2244T>C (p.Asn748=)
NM_018076.5(ODAD2):c.2306C>A (p.Pro769His) rs117515566
NM_018076.5(ODAD2):c.2599A>G (p.Lys867Glu) rs2492985111
NM_018076.5(ODAD2):c.27G>T (p.Thr9=) rs139724964
NM_018076.5(ODAD2):c.2946G>A (p.Ala982=) rs371338930
NM_018076.5(ODAD2):c.531A>G (p.Gln177=)
NM_018076.5(ODAD2):c.534G>A (p.Leu178=) rs550542420
NM_018076.5(ODAD2):c.618A>G (p.Glu206=)
NM_018076.5(ODAD2):c.699T>C (p.Asn233=) rs2494380696
NM_018076.5(ODAD2):c.843C>T (p.Asp281=) rs754506887
NM_018076.5(ODAD2):c.91T>C (p.Leu31=)
NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=) rs1883256328
NM_018139.3(DNAAF2):c.1243C>G (p.Leu415Val) rs2502768048
NM_018139.3(DNAAF2):c.1320G>C (p.Leu440Phe)
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg) rs145008882
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala) rs547924178
NM_018139.3(DNAAF2):c.1614T>C (p.Ile538=) rs2502766579
NM_018139.3(DNAAF2):c.1707C>A (p.Ser569=) rs2502766273
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=) rs1417411909
NM_018139.3(DNAAF2):c.186G>A (p.Glu62=) rs2985684
NM_018139.3(DNAAF2):c.2156T>C (p.Ile719Thr)
NM_018139.3(DNAAF2):c.228T>C (p.His76=) rs932908231
NM_018139.3(DNAAF2):c.329A>G (p.Asp110Gly)
NM_018139.3(DNAAF2):c.336C>G (p.Gly112=)
NM_018139.3(DNAAF2):c.378G>A (p.Ala126=)
NM_018139.3(DNAAF2):c.406A>G (p.Ser136Gly) rs2502771558
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg) rs541232616
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=) rs746037775
NM_023036.6(DNAI2):c.111G>A (p.Leu37=) rs374070900
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=) rs1320504737
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=) rs372940037
NM_023036.6(DNAI2):c.12G>T (p.Val4=) rs775567813
NM_023036.6(DNAI2):c.1497G>A (p.Met499Ile) rs1224398877
NM_023036.6(DNAI2):c.1628C>A (p.Ala543Glu)
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=) rs1377302273
NM_023036.6(DNAI2):c.1751T>C (p.Val584Ala) rs2509783002
NM_023036.6(DNAI2):c.477G>A (p.Gln159=) rs2051961310
NM_023036.6(DNAI2):c.705C>T (p.Gly235=) rs2052066677
NM_152732.5(RSPH9):c.135C>T (p.Leu45=) rs765016716
NM_152732.5(RSPH9):c.159C>G (p.Leu53=) rs145929923
NM_152732.5(RSPH9):c.693G>A (p.Glu231=) rs2532864194
NM_152732.5(RSPH9):c.717G>T (p.Leu239=) rs2532864529
NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr) rs2532864838
NM_152732.5(RSPH9):c.762C>T (p.Arg254=)
NM_178452.6(DNAAF1):c.1098C>G (p.Pro366=) rs1014231886
NM_178452.6(DNAAF1):c.1161C>T (p.Asp387=) rs36062234
NM_178452.6(DNAAF1):c.1356T>A (p.Pro452=) rs769439341
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=) rs761136963
NM_178452.6(DNAAF1):c.1416C>T (p.Thr472=)
NM_178452.6(DNAAF1):c.1529-17TTG[2] rs369485504
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu) rs199727292
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met) rs2088633060
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=) rs774702739
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu) rs886052366
NM_178452.6(DNAAF1):c.1883A>C (p.Glu628Ala)
NM_178452.6(DNAAF1):c.1897T>C (p.Leu633=) rs2507529274
NM_178452.6(DNAAF1):c.1998A>G (p.Gln666=)
NM_178452.6(DNAAF1):c.2157C>G (p.Phe719Leu)
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu) rs775816960
NM_178452.6(DNAAF1):c.327T>C (p.Asn109=) rs149063283
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=) rs984903810
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=) rs2473777397
NM_181426.2(CCDC39):c.246T>C (p.Ser82=) rs2473826297
NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)
NM_181426.2(CCDC39):c.297T>C (p.Asp99=) rs763798585
NM_181426.2(CCDC39):c.307C>A (p.Arg103=) rs61733582
NM_213607.3(DNAAF19):c.264T>C (p.Thr88=) rs746143004
NM_213607.3(DNAAF19):c.336C>T (p.His112=) rs770417283
NM_213607.3(DNAAF19):c.66T>A (p.Ala22=) rs138770639

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