ClinVar Miner

Variants with conflicting interpretations studied for Primary ciliary dyskinesia

Coded as:
Minimum review status of the submission for Primary ciliary dyskinesia: Collection method of the submission for Primary ciliary dyskinesia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
16987 1485 0 336 753 0 41 1105

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Primary ciliary dyskinesia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 90 22 0 0
likely pathogenic 92 0 23 0 1
uncertain significance 22 23 0 511 262
likely benign 0 0 511 0 244
benign 0 1 262 244 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Primary ciliary dyskinesia 16989 1485 0 334 753 0 41 1103
Primary ciliary dyskinesia; Inborn genetic diseases 0 0 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 1105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03504
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.03062
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578 0.01743
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=) rs72657372 0.01452
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357 0.01156
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=) rs79119693 0.00895
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=) rs75932225 0.00755
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=) rs28370951 0.00650
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=) rs78763603 0.00628
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656 0.00615
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys) rs72655984 0.00494
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001277115.2(DNAH11):c.6468+14T>C rs114409690 0.00469
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_001277115.2(DNAH11):c.2275-15G>T rs60290948 0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001277115.2(DNAH11):c.4726-15T>C rs17144822 0.00445
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=) rs62445328 0.00419
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys) rs78653098 0.00401
NM_001277115.2(DNAH11):c.13050-15C>T rs149634292 0.00399
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=) rs187489343 0.00361
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His) rs151018293 0.00330
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00305
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627 0.00299
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00262
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00249
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=) rs79955190 0.00235
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00223
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile) rs145239537 0.00220
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=) rs72657400 0.00213
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00208
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00190
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp) rs200954442 0.00189
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
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.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu) rs148823991 0.00171
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721 0.00166
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_213607.3(CCDC103):c.627G>A (p.Glu209=) rs200474997 0.00161
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln) rs116069486 0.00153
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=) rs200603138 0.00151
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=) rs190978775 0.00149
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_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe) rs111375012 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_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=) rs112102932 0.00132
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=) rs149045168 0.00128
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr) rs150814892 0.00127
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_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=) rs145381989 0.00118
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_001277115.2(DNAH11):c.7267-5C>G rs370674737 0.00113
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00113
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys) rs141192321 0.00112
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=) rs185794149 0.00110
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp) rs201929981 0.00109
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val) rs151156028 0.00109
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg) rs72657366 0.00108
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=) rs150259992 0.00105
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=) rs200445638 0.00103
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys) rs182808328 0.00092
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp) rs200614172 0.00092
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) rs147470752 0.00092
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu) rs1031852692 0.00090
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) rs201386161 0.00089
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_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val) rs201700629 0.00081
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu) rs200673226 0.00080
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=) rs200360777 0.00079
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=) rs74722451 0.00077
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.1329G>A (p.Gln443=) rs141621142 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg) rs199629774 0.00074
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=) rs200022799 0.00073
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00072
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
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_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 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_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr) rs139745647 0.00066
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=) rs114554656 0.00066
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_001369.3(DNAH5):c.2578-10T>G rs756212532 0.00065
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213 0.00061
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00059
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_017950.4(CCDC40):c.2061G>A (p.Arg687=) rs189617808 0.00058
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu) rs142342712 0.00058
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00057
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr) rs549457480 0.00056
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser) rs187533108 0.00053
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_001277115.2(DNAH11):c.4434C>T (p.His1478=) rs139082783 0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_001277115.2(DNAH11):c.5691C>T (p.Thr1897=) rs200388712 0.00051
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp) rs188615176 0.00049
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_001277115.2(DNAH11):c.13050-12C>T rs187048874 0.00047
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr) rs374033085 0.00047
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_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00045
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00044
NM_001256715.2(DNAAF3):c.-4G>A rs200851565 0.00043
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807 0.00043
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe) rs201793112 0.00043
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_001034853.2(RPGR):c.1414+5C>T rs367627674 0.00039
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met) rs202034810 0.00039
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser) rs201704416 0.00039
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201 0.00039
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 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.6409C>A (p.Leu2137Ile) rs181884470 0.00039
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu) rs202156474 0.00037
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) rs201618995 0.00036
NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val) rs369862935 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_001277115.2(DNAH11):c.4868T>C (p.Ile1623Thr) rs113948334 0.00035
NM_001277115.2(DNAH11):c.6274-5T>C rs74365849 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 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_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203 0.00032
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val) rs201257328 0.00032
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met) rs376798792 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_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 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.9995G>A (p.Arg3332Lys) rs138968139 0.00031
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val) rs137855415 0.00029
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His) rs192989152 0.00029
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_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 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_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=) rs574427839 0.00026
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg) rs36088710 0.00026
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 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.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys) rs117729990 0.00024
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) rs199864090 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu) rs147525173 0.00024
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206 0.00024
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) rs148017278 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser) rs200166341 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile) rs575775297 0.00023
NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile) rs374350787 0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001256715.2(DNAAF3):c.1049-1G>A rs199590885 0.00022
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser) rs369770445 0.00022
NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys) rs531475386 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg) rs145533843 0.00022
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703 0.00021
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His) rs369849556 0.00021
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=) rs201231307 0.00021
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp) rs183489539 0.00021
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser) rs201501951 0.00021
NM_001277115.2(DNAH11):c.9925-7T>C rs146815254 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) rs749162833 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00021
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324 0.00020
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr) rs374186868 0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=) rs201050208 0.00019
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu) rs150095347 0.00019
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=) rs567371975 0.00019
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00019
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00019
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp) rs369213196 0.00018
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser) rs200216579 0.00018
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=) rs201592689 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met) rs147583407 0.00018
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val) rs147911274 0.00018
NM_001277115.2(DNAH11):c.13162+12C>T rs191638909 0.00017
NM_152732.5(RSPH9):c.819C>T (p.Pro273=) rs79412180 0.00017
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 0.00016
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His) rs372603233 0.00016
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His) rs138945257 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146 0.00016
NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val) rs200459876 0.00016
NM_001277115.2(DNAH11):c.4370C>T (p.Thr1457Ile) rs200220615 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln) rs769003090 0.00016
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys) rs374826188 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_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448 0.00016
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys) rs201494403 0.00015
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp) rs370878348 0.00014
NM_001277115.2(DNAH11):c.3425+5C>G rs776140118 0.00014
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167 0.00014
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=) rs144879072 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys) rs145962029 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr) rs149139347 0.00014
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val) rs200291432 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu) rs200099996 0.00013
NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe) rs201671992 0.00013
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp) rs369704964 0.00013
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) rs199667661 0.00013
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu) rs199698421 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly) rs199910966 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr) rs141828030 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00012
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly) rs370436662 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00012
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His) rs140975593 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_001277115.2(DNAH11):c.10569-15C>T rs371205337 0.00011
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala) rs767288107 0.00011
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile) rs186358036 0.00011
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln) rs372325290 0.00011
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val) rs373365959 0.00011
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys) rs199772877 0.00011
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile) rs373406041 0.00011
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.11492C>G (p.Thr3831Ser) rs111313832 0.00011
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn) rs149834171 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val) rs199661899 0.00010
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met) rs763843747 0.00010
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser) rs183509559 0.00010
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met) rs368578923 0.00010
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg) rs200295318 0.00010
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu) rs201978870 0.00010
NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile) rs190964996 0.00010
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) rs201473584 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg) rs763155183 0.00009
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=) rs535847014 0.00009
NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu) rs372918576 0.00009
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=) rs752183095 0.00009
NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr) rs772333047 0.00009
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr) rs771891040 0.00009
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val) rs187510989 0.00009
NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu) rs367640600 0.00009
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys) rs759530635 0.00009
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr) rs375527837 0.00009
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys) rs374335908 0.00009
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys) rs190450522 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His) rs773599958 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_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_023036.6(DNAI2):c.1485A>G (p.Val495=) rs200587166 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val) rs370443558 0.00008
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile) rs528354205 0.00008
NM_001277115.2(DNAH11):c.12344T>G (p.Ile4115Ser) rs371418299 0.00008
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp) rs374787771 0.00008
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn) rs754921505 0.00008
NM_001277115.2(DNAH11):c.4012-8G>A rs374349753 0.00008
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr) rs200223750 0.00008
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr) rs747087320 0.00008
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu) rs552567607 0.00008
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) rs147108941 0.00008
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His) rs150739124 0.00008
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr) rs536502106 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 0.00008
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu) rs139821753 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
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.2525G>T (p.Arg842Met) rs546817580 0.00007
NM_001277115.2(DNAH11):c.2576C>T (p.Ala859Val) rs150414068 0.00007
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile) rs373624232 0.00007
NM_001277115.2(DNAH11):c.8316+7G>A rs369837420 0.00007
NM_001277115.2(DNAH11):c.9103-15T>C rs551974653 0.00007
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967 0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=) rs369094478 0.00007
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val) rs763824667 0.00007
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile) rs368448770 0.00007
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly) rs374248199 0.00007
NM_001369.3(DNAH5):c.477C>T (p.Gly159=) rs897766386 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile) rs777011433 0.00006
NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp) rs200648006 0.00006
NM_001277115.2(DNAH11):c.1711-4A>T rs372207653 0.00006
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=) rs372387032 0.00006
NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met) rs370878968 0.00006
NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu) rs375314297 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 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.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu) rs375008007 0.00006
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly) rs773498002 0.00006
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu) rs202236144 0.00006
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile) rs185039462 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_001277115.2(DNAH11):c.971C>T (p.Ala324Val) rs79874320 0.00006
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612 0.00006
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00006
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) rs138838869 0.00006
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=) rs990691780 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053 0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His) rs150601733 0.00006
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys) rs141651575 0.00006
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala) rs753696648 0.00006
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu) rs139857637 0.00006
NM_001369.3(DNAH5):c.660+9G>A rs762915801 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 0.00006
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00006
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00006
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00006
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) rs777369529 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg) rs371437266 0.00005
NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro) rs200057913 0.00005
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=) rs748250611 0.00005
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu) rs780579730 0.00005
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys) rs367670668 0.00005
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=) rs368872150 0.00005
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys) rs367916239 0.00005
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg) rs371049362 0.00005
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=) rs202012891 0.00005
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=) rs774129338 0.00005
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr) rs200462132 0.00005
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met) rs137875815 0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 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.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) rs376453450 0.00005
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686 0.00005
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys) rs771222700 0.00005
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 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_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00005
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu) rs765979499 0.00004
NM_001256715.2(DNAAF3):c.-15G>C rs541817053 0.00004
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His) rs554657293 0.00004
NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr) rs374799169 0.00004
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met) rs751059559 0.00004
NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu) rs978373825 0.00004
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly) rs545970834 0.00004
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser) rs551038953 0.00004
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg) rs745305844 0.00004
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=) rs535761458 0.00004
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu) rs762090852 0.00004
NM_001277115.2(DNAH11):c.4944+6del rs531049764 0.00004
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=) rs372802443 0.00004
NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala) rs750672801 0.00004
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=) rs763685245 0.00004
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met) rs375341444 0.00004
NM_001277115.2(DNAH11):c.6683+16_6683+18del rs750498878 0.00004
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met) rs760409547 0.00004
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys) rs769695221 0.00004
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn) rs201757586 0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) rs200012281 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941 0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His) rs185855852 0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743 0.00004
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys) rs143673459 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln) rs779980906 0.00004
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=) rs748438142 0.00004
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu) rs749078502 0.00004
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala) rs138222058 0.00004
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00004
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln) rs371695477 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00004
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe) rs368476008 0.00004
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe) rs375063617 0.00004
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566 0.00004
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=) rs375561333 0.00004
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00004
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 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_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala) rs759056367 0.00003
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe) rs1163253626 0.00003
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile) rs766901693 0.00003
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn) rs770520414 0.00003
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala) rs369965539 0.00003
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro) rs772070316 0.00003
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser) rs769169485 0.00003
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val) rs752203815 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00003
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys) rs565819640 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu) rs185104576 0.00003
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845 0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) rs769275003 0.00003
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798 0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) rs116128702 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.6444+1G>A rs781236248 0.00003
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp) rs747326567 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.8190G>A (p.Thr2730=) rs752656841 0.00003
NM_001369.3(DNAH5):c.8821-7A>G rs776228125 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu) rs199874020 0.00003
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=) rs201475447 0.00002
NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met) rs200824684 0.00002
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val) rs200664169 0.00002
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly) rs185803317 0.00002
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala) rs747193364 0.00002
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly) rs749057056 0.00002
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=) rs373969291 0.00002
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His) rs750430725 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser) rs995773912 0.00002
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=) rs373930042 0.00002
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met) rs375595192 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn) rs1215107095 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) rs150357258 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys) rs777295839 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) rs781059966 0.00002
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His) rs370272258 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103 0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) rs745381842 0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln) rs775506164 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) rs747116308 0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met) rs190749755 0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=) rs767344710 0.00002
NM_001369.3(DNAH5):c.660+10A>G rs750383077 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln) rs558294959 0.00002
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys) rs1469012975 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile) rs548585661 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719 0.00002
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=) rs765029802 0.00002
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln) rs752552477 0.00002
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=) rs543265562 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.610+1G>A rs758109864 0.00002
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00001
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001256715.2(DNAAF3):c.-59C>T rs376972065 0.00001
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala) rs760795257 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=) rs537127251 0.00001
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His) rs753983449 0.00001
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=) rs545264816 0.00001
NM_001277115.2(DNAH11):c.1995C>T (p.His665=) rs752831166 0.00001
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys) rs529566924 0.00001
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu) rs1427132712 0.00001
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr) rs767822847 0.00001
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser) rs368692202 0.00001
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg) rs949130021 0.00001
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp) rs756753955 0.00001
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu) rs374802008 0.00001
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro) rs575476197 0.00001
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu) rs753773546 0.00001
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln) rs751896015 0.00001
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=) rs72657324 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=) rs373354778 0.00001
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln) rs761919869 0.00001
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=) rs886062171 0.00001
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=) rs745494770 0.00001
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met) rs369684624 0.00001
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu) rs1420930266 0.00001
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln) rs372633683 0.00001
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val) rs778125255 0.00001
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00001
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser) rs781116833 0.00001
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile) rs1388667729 0.00001
NM_001277115.2(DNAH11):c.982+12G>A rs546259810 0.00001
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys) rs538588580 0.00001
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929 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.11029-2A>T rs369312501 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln) rs775060022 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp) rs768164911 0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) rs752895938 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg) rs564653952 0.00001
NM_001369.3(DNAH5):c.2259+8A>G rs202137813 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) rs779020258 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=) rs142806046 0.00001
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val) rs1311080684 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.5563A>G (p.Ile1855Val) rs1259929811 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg) rs1298790222 0.00001
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp) rs774191944 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456 0.00001
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=) rs769544175 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu) rs757970855 0.00001
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=) rs562255121 0.00001
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val) rs768364281 0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138 0.00001
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) rs771328747 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys) rs766481283 0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu) rs1318152994 0.00001
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys) rs758324905 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp) rs753913853 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=) rs1038607014 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_213607.3(CCDC103):c.144-1G>A rs747091524 0.00001
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
NM_001277115.2(DNAH11):c.10333-5T>G
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met) rs573384750
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=) rs886062182
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro) rs771256529
NM_001277115.2(DNAH11):c.11062-4A>G
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
NM_001277115.2(DNAH11):c.11202+7C>A rs73279826
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met) rs201120788
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln) rs371438607
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu) rs371438607
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=)
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln) rs368249392
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr) rs72655984
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=) rs781089233
NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=) rs771896570
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu) rs762314534
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=) rs886062170
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)
NM_001277115.2(DNAH11):c.495+1G>T
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=) rs149538783
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg) rs768697972
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=)
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr) rs1465555535
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=) rs200894470
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=)
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val) rs767273694
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His) rs369438218
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile) rs1259559217
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys) rs377216163
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr) rs751575627
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
NM_001277115.2(DNAH11):c.8511-15G>A rs111471486
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn) rs776368544
NM_001277115.2(DNAH11):c.883-4T>G
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg) rs369196786
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu) rs749849152
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=) rs886062181
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser) rs762025592
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
NM_001364171.2(ODAD1):c.598-5C>G
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val) rs1044439678
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln) rs761043906
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) rs753367747
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr) rs540038644
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val) rs766505155
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.57G>T (p.Thr19=) rs142969794
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.3(DNAH5):c.6988+2T>C rs2151806960
NM_001369.3(DNAH5):c.6989-7_6989-5dup rs1460888052
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
NM_001369.3(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln) rs113742238
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile) rs149452082
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_012144.4(DNAI1):c.1063+1G>A rs1268770869
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.940-1G>C rs2037540861
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) rs576683556
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)

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