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:

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
20991 2356 0 509 1191 0 46 1723

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 0 214 26 0 0
likely pathogenic 214 0 25 0 2
uncertain significance 26 25 0 789 418
likely benign 0 0 789 0 295
benign 0 2 418 295 0

Condition to condition summary #

Total conditions: 1
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 20991 2356 0 509 1191 0 46 1723

All variants with conflicting interpretations #

Total variants: 1723
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.00940
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001277115.2(DNAH11):c.7812-18C>G rs147865931 0.00771
NM_001277115.2(DNAH11):c.7441-19A>G rs10247099 0.00707
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
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_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00428
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00351
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00331
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00312
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001277115.2(DNAH11):c.13163-19T>A rs72658832 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_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00248
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00236
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) rs137862641 0.00229
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00228
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00212
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00206
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_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00194
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp) rs200954442 0.00189
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00188
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.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00176
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00174
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_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00157
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00154
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_213607.3(DNAAF19):c.627G>A (p.Glu209=) rs200474997 0.00150
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00145
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 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_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe) rs111375012 0.00135
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.5944G>A (p.Ala1982Thr) rs150814892 0.00127
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 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(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
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_001277115.2(DNAH11):c.7267-5C>G rs370674737 0.00113
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00113
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00111
NM_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 0.00103
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00099
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys) rs141192321 0.00094
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_001277115.2(DNAH11):c.7811+4A>T rs374167556 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_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 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.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00079
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=) rs200360777 0.00078
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00074
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=) rs74722451 0.00072
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=) rs141621142 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.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_001369.3(DNAH5):c.2578-10T>G rs756212532 0.00065
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00065
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 0.00064
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr) rs139745647 0.00063
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_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00063
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201 0.00062
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=) rs114554656 0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 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_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00057
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00057
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00056
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_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00054
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_018139.3(DNAAF2):c.982G>A (p.Asp328Asn) rs201566715 0.00054
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00054
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_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 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_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_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) rs150710001 0.00048
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00048
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_012144.4(DNAI1):c.389-1G>C rs200488444 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_012144.4(DNAI1):c.48+2dup rs397515363 0.00045
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00045
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_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr) rs374033085 0.00044
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu) rs150182125 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_001256715.2(DNAAF3):c.-4G>A rs200851565 0.00043
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp) rs111451119 0.00043
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_001256715.2(DNAAF3):c.1252G>A (p.Val418Met) rs201231901 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00040
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807 0.00040
NM_001369.3(DNAH5):c.8224+18G>A rs183622722 0.00040
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu) rs149924115 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_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_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 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_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg) rs201919395 0.00036
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00036
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_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) rs150050027 0.00036
NM_001369.3(DNAH5):c.8804T>C (p.Met2935Thr) rs750633804 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_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile) rs181884470 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) rs374132008 0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu) rs202156474 0.00033
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val) rs201257328 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_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu) rs756968294 0.00032
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr) rs770101727 0.00031
NM_001034853.2(RPGR):c.153C>T (p.Thr51=) rs201242851 0.00031
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met) rs376798792 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr) rs199564182 0.00030
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00030
NM_001277115.2(DNAH11):c.3184G>T (p.Asp1062Tyr) rs371880343 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.5875G>A (p.Ala1959Thr) rs373077301 0.00028
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=) rs200978576 0.00028
NM_178452.6(DNAAF1):c.1645-19G>A rs192432193 0.00028
NM_213607.3(DNAAF19):c.473C>T (p.Ala158Val) rs148834205 0.00028
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys) rs538588580 0.00027
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) rs138968139 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_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr) rs549436949 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.367C>T (p.Leu123Phe) rs148017278 0.00026
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg) rs760933549 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00024
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met) rs141079076 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_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) rs199864090 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_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206 0.00023
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00023
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.6731A>T (p.Lys2244Met) rs187023993 0.00022
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile) rs141955563 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val) rs200758776 0.00021
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703 0.00021
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser) rs201501951 0.00021
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 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_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg) rs145533843 0.00021
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00021
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00021
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 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.472C>T (p.His158Tyr) rs374186868 0.00020
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00020
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00020
NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser) rs374818694 0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 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_018139.3(DNAAF2):c.129C>T (p.Leu43=) rs567371975 0.00019
NM_001277115.2(DNAH11):c.1116G>C (p.Trp372Cys) rs372700740 0.00018
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_001364171.2(ODAD1):c.1680C>A (p.Thr560=) rs138262031 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_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) rs749162833 0.00018
NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val) rs373025050 0.00018
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00017
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00017
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496 0.00017
NM_017950.4(CCDC40):c.772A>G (p.Met258Val) rs200614903 0.00017
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00017
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val) rs377319302 0.00017
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 0.00016
NM_001277115.2(DNAH11):c.12712C>A (p.Leu4238Ile) rs761368563 0.00016
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His) rs138945257 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.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln) rs769003090 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.1067C>T (p.Ser356Leu) rs200448007 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_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.2570G>A (p.Arg857Gln) rs376572966 0.00015
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser) rs200216579 0.00015
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val) rs79874320 0.00015
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys) rs201494403 0.00015
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00015
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys) rs374826188 0.00014
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167 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.1539C>T (p.Gly513=) rs577043545 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.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_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe) rs201671992 0.00013
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp) rs369704964 0.00013
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00013
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr) rs140388814 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_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00013
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733 0.00012
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp) rs371226433 0.00012
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp) rs370878348 0.00012
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly) rs370436662 0.00012
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val) rs371414060 0.00012
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00012
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.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.1042T>C (p.Cys348Arg) rs371654954 0.00011
NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met) rs374549012 0.00011
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala) rs767288107 0.00011
NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu) rs552249954 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.3545G>A (p.Arg1182Gln) rs368316519 0.00011
NM_001277115.2(DNAH11):c.6029A>G (p.Lys2010Arg) rs183609678 0.00011
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys) rs199772877 0.00011
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His) rs115598432 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.12189G>A (p.Gly4063=) rs144879072 0.00011
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val) rs200969063 0.00011
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu) rs146051262 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 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_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00011
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00011
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=) rs375561333 0.00011
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00011
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His) rs572440259 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.10887G>A (p.Glu3629=) rs368254400 0.00010
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met) rs763843747 0.00010
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile) rs186358036 0.00010
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser) rs183509559 0.00010
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg) rs200295318 0.00010
NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr) rs771437656 0.00010
NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser) rs371215793 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.10347C>T (p.Ala3449=) rs150773884 0.00010
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00010
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116 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.1588G>A (p.Ala530Thr) rs200272840 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.11426G>A (p.Arg3809Gln) rs753081155 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.1567T>C (p.Tyr523His) rs200126117 0.00009
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val) rs187510989 0.00009
NM_001277115.2(DNAH11):c.183C>T (p.Phe61=) rs571142873 0.00009
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met) rs368578923 0.00009
NM_001277115.2(DNAH11):c.4667T>C (p.Ile1556Thr) rs370239008 0.00009
NM_001277115.2(DNAH11):c.6499C>T (p.Arg2167Trp) rs750245529 0.00009
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr) rs200628085 0.00009
NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala) rs368664931 0.00009
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys) rs149354918 0.00009
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys) rs190450522 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00009
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00009
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327 0.00009
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 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_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00009
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00009
NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val) rs900496106 0.00009
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg) rs201191082 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.2548A>G (p.Thr850Ala) rs201963508 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_001277115.2(DNAH11):c.10627C>T (p.Leu3543Phe) rs370350252 0.00008
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.2829T>G (p.Phe943Leu) rs367640600 0.00008
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn) rs754921505 0.00008
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys) rs759530635 0.00008
NM_001277115.2(DNAH11):c.5446C>A (p.Leu1816Ile) rs112892548 0.00008
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr) rs200223750 0.00008
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu) rs552567607 0.00008
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) rs147108941 0.00008
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508 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.464C>T (p.Ala155Val) rs148837179 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 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_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr) rs757212818 0.00008
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) rs371071557 0.00008
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn) rs758243927 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_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr) rs374043705 0.00008
NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met) rs369182142 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.1966C>T (p.Arg656Cys) rs780931328 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.3635A>G (p.Tyr1212Cys) rs199911435 0.00007
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys) rs367916239 0.00007
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr) rs375527837 0.00007
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys) rs771040551 0.00007
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile) rs373624232 0.00007
NM_001277115.2(DNAH11):c.806G>T (p.Gly269Val) rs374505775 0.00007
NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro) rs368459116 0.00007
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys) rs767994393 0.00007
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00007
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967 0.00007
NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met) rs147531607 0.00007
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00007
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00007
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053 0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=) rs369094478 0.00007
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr) rs540038644 0.00007
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser) rs142386498 0.00007
NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln) rs779321133 0.00007
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299 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_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00007
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00007
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp) rs139797525 0.00007
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00007
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00007
NM_017802.4(DNAAF5):c.2425A>G (p.Ile809Val) rs563633198 0.00007
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740 0.00007
NM_001256715.2(DNAAF3):c.86-60A>C rs771361438 0.00006
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly) rs928335497 0.00006
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.1720A>G (p.Ile574Val) rs374359812 0.00006
NM_001277115.2(DNAH11):c.2075G>A (p.Ser692Asn) rs528619219 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.3726G>A (p.Ala1242=) rs772101696 0.00006
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg) rs374946621 0.00006
NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln) rs372051486 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.6780C>T (p.Gly2260=) rs377115580 0.00006
NM_001277115.2(DNAH11):c.6922C>G (p.Pro2308Ala) rs373358447 0.00006
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu) rs202236144 0.00006
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr) rs200462132 0.00006
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met) rs375595192 0.00006
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala) rs373850047 0.00006
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612 0.00006
NM_001369.3(DNAH5):c.10035T>C (p.Cys3345=) rs150268680 0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) rs138838869 0.00006
NM_001369.3(DNAH5):c.1145G>A (p.Ser382Asn) rs768616477 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His) rs150601733 0.00006
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194 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.3210G>C (p.Gln1070His) rs372974399 0.00006
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val) rs763824667 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 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_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp) rs201974671 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_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
NC_000019.10:g.55166633C>G rs774308391 0.00005
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu) rs757080712 0.00005
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys) rs62638645 0.00005
NM_001277115.2(DNAH11):c.10328A>G (p.Gln3443Arg) rs769152755 0.00005
NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly) rs375507992 0.00005
NM_001277115.2(DNAH11):c.10771C>T (p.His3591Tyr) rs140117045 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.11114A>G (p.Tyr3705Cys) rs370580628 0.00005
NM_001277115.2(DNAH11):c.1138A>C (p.Thr380Pro) rs755525098 0.00005
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu) rs780579730 0.00005
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu) rs72658835 0.00005
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val) rs536932803 0.00005
NM_001277115.2(DNAH11):c.1565C>T (p.Thr522Ile) rs192594614 0.00005
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser) rs746506506 0.00005
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys) rs367670668 0.00005
NM_001277115.2(DNAH11):c.2693A>G (p.Asn898Ser) rs375459428 0.00005
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=) rs368872150 0.00005
NM_001277115.2(DNAH11):c.3697A>G (p.Arg1233Gly) rs757895588 0.00005
NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile) rs140876382 0.00005
NM_001277115.2(DNAH11):c.4519C>T (p.Leu1507Phe) rs545466506 0.00005
NM_001277115.2(DNAH11):c.4624A>G (p.Thr1542Ala) rs749457758 0.00005
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg) rs371049362 0.00005
NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile) rs375238384 0.00005
NM_001277115.2(DNAH11):c.663G>T (p.Met221Ile) rs371426283 0.00005
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys) rs377216163 0.00005
NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro) rs770508431 0.00005
NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln) rs534013804 0.00005
NM_001277115.2(DNAH11):c.9089C>A (p.Thr3030Asn) rs202014541 0.00005
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser) rs202139668 0.00005
NM_001277115.2(DNAH11):c.9955G>A (p.Ala3319Thr) rs199770001 0.00005
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg) rs878854450 0.00005
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met) rs137875815 0.00005
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 0.00005
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile) rs756103727 0.00005
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00005
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu) rs185104576 0.00005
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=) rs990691780 0.00005
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val) rs766164602 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.1518C>A (p.Asp506Glu) rs757776893 0.00005
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys) rs141651575 0.00005
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His) rs370272258 0.00005
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00005
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His) rs1159823492 0.00005
NM_001369.3(DNAH5):c.300G>C (p.Gly100=) rs543407739 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.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) rs774855042 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp) rs376641196 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.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile) rs370292438 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001369.3(DNAH5):c.886A>G (p.Lys296Glu) rs545061430 0.00005
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 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_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00005
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu) rs531303883 0.00005
NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val) rs770547622 0.00005
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00005
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00005
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His) rs368439919 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_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu) rs200919669 0.00004
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala) rs775837121 0.00004
NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp) rs377042231 0.00004
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn) rs370395919 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.11695T>G (p.Phe3899Val) rs751430515 0.00004
NM_001277115.2(DNAH11):c.12700C>T (p.Pro4234Ser) rs376606944 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.2243C>T (p.Ala748Val) rs372819257 0.00004
NM_001277115.2(DNAH11):c.2248T>G (p.Phe750Val) rs776959465 0.00004
NM_001277115.2(DNAH11):c.2464G>A (p.Glu822Lys) rs200388651 0.00004
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val) rs542059067 0.00004
NM_001277115.2(DNAH11):c.367A>G (p.Asn123Asp) rs750093486 0.00004
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu) rs768789429 0.00004
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val) rs759282487 0.00004
NM_001277115.2(DNAH11):c.4466A>G (p.Asp1489Gly) rs371659661 0.00004
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly) rs781652233 0.00004
NM_001277115.2(DNAH11):c.4876C>G (p.Pro1626Ala) rs372273069 0.00004
NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys) rs371235859 0.00004
NM_001277115.2(DNAH11):c.5591C>G (p.Pro1864Arg) rs367858452 0.00004
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly) rs772740368 0.00004
NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln) rs370052217 0.00004
NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr) rs372264255 0.00004
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.7226C>T (p.Ala2409Val) rs769281862 0.00004
NM_001277115.2(DNAH11):c.7511A>G (p.Lys2504Arg) rs775730577 0.00004
NM_001277115.2(DNAH11):c.8778T>G (p.Ile2926Met) rs781151745 0.00004
NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val) rs766857244 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.10960G>C (p.Glu3654Gln) rs138486840 0.00004
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn) rs746241201 0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941 0.00004
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845 0.00004
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln) rs761289479 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.2480G>A (p.Arg827His) rs141969815 0.00004
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His) rs139235944 0.00004
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys) rs143673459 0.00004
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val) rs370697884 0.00004
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889 0.00004
NM_001369.3(DNAH5):c.4324A>C (p.Ile1442Leu) rs371141184 0.00004
NM_001369.3(DNAH5):c.4736C>T (p.Ser1579Leu) rs184151103 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.6551T>C (p.Val2184Ala) rs200805455 0.00004
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) rs373885245 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln) rs371695477 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val) rs946953944 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.9356A>G (p.Lys3119Arg) rs1251640049 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met) rs139953639 0.00004
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met) rs200034358 0.00004
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln) rs771414681 0.00004
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp) rs1024449397 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 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_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 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_001034853.2(RPGR):c.1500A>C (p.Leu500Phe) rs375014257 0.00003
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00003
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=) rs145682975 0.00003
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile) rs774136369 0.00003
NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser) rs578086869 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.10641A>G (p.Ile3547Met) rs368052967 0.00003
NM_001277115.2(DNAH11):c.1084G>A (p.Ala362Thr) rs771256529 0.00003
NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn) rs374860291 0.00003
NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His) rs765797284 0.00003
NM_001277115.2(DNAH11):c.11659A>G (p.Met3887Val) rs72658811 0.00003
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val) rs376276056 0.00003
NM_001277115.2(DNAH11):c.11983G>C (p.Ala3995Pro) rs759909768 0.00003
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met) rs751059559 0.00003
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala) rs759056367 0.00003
NM_001277115.2(DNAH11):c.12146C>T (p.Pro4049Leu) rs1428231658 0.00003
NM_001277115.2(DNAH11):c.12165T>A (p.Asn4055Lys) rs776666835 0.00003
NM_001277115.2(DNAH11):c.12296C>G (p.Pro4099Arg) rs573509767 0.00003
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe) rs763870754 0.00003
NM_001277115.2(DNAH11):c.12647A>T (p.Glu4216Val) rs755880806 0.00003
NM_001277115.2(DNAH11):c.12657A>G (p.Thr4219=) rs574488123 0.00003
NM_001277115.2(DNAH11):c.13214G>A (p.Arg4405His) rs374415657 0.00003
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp) rs764968620 0.00003
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile) rs573727689 0.00003
NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro) rs757349371 0.00003
NM_001277115.2(DNAH11):c.2015A>G (p.Tyr672Cys) rs531579082 0.00003
NM_001277115.2(DNAH11):c.219G>A (p.Thr73=) rs1051931486 0.00003
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe) rs1163253626 0.00003
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg) rs745305844 0.00003
NM_001277115.2(DNAH11):c.3236T>C (p.Leu1079Pro) rs371800860 0.00003
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly) rs749057056 0.00003
NM_001277115.2(DNAH11):c.4142C>T (p.Thr1381Met) rs551195183 0.00003
NM_001277115.2(DNAH11):c.4352C>T (p.Ala1451Val) rs775598568 0.00003
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu) rs762090852 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.4972G>A (p.Asp1658Asn) rs749120592 0.00003
NM_001277115.2(DNAH11):c.5059G>A (p.Val1687Ile) rs1236771486 0.00003
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala) rs369965539 0.00003
NM_001277115.2(DNAH11):c.5789A>G (p.Asn1930Ser) rs368502112 0.00003
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=) rs774896858 0.00003
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro) rs772070316 0.00003
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00003
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met) rs375341444 0.00003
NM_001277115.2(DNAH11):c.6328A>C (p.Ile2110Leu) rs370269376 0.00003
NM_001277115.2(DNAH11):c.637C>T (p.Pro213Ser) rs753456838 0.00003
NM_001277115.2(DNAH11):c.6500G>A (p.Arg2167Gln) rs760400353 0.00003
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=) rs368278745 0.00003
NM_001277115.2(DNAH11):c.6583A>G (p.Lys2195Glu) rs371974305 0.00003
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=) rs761918179 0.00003
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn) rs1267150542 0.00003
NM_001277115.2(DNAH11):c.7258C>G (p.Gln2420Glu) rs1207409225 0.00003
NM_001277115.2(DNAH11):c.7331C>T (p.Pro2444Leu) rs552235699 0.00003
NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile) rs572118148 0.00003
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val) rs752203815 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.8045T>G (p.Leu2682Trp) rs990453651 0.00003
NM_001277115.2(DNAH11):c.8215C>G (p.Leu2739Val) rs761798023 0.00003
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met) rs760409547 0.00003
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala) rs139912794 0.00003
NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His) rs1253630975 0.00003
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys) rs752605468 0.00003
NM_001277115.2(DNAH11):c.9064G>A (p.Val3022Ile) rs757486099 0.00003
NM_001277115.2(DNAH11):c.9306C>T (p.Gly3102=) rs369831641 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_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp) rs554507939 0.00003
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser) rs138951581 0.00003
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) rs150532311 0.00003
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu) rs558861943 0.00003
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00003
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929 0.00003
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His) rs954286214 0.00003
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 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.11614A>T (p.Ile3872Phe) rs572139897 0.00003
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00003
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) rs150357258 0.00003
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile) rs1424487626 0.00003
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser) rs1375781764 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) rs769275003 0.00003
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn) rs762101328 0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) rs116128702 0.00003
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn) rs779957324 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00003
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00003
NM_001369.3(DNAH5):c.4355+5G>A rs774366812 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val) rs185219431 0.00003
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp) rs139364454 0.00003
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys) rs372832680 0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021 0.00003
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln) rs774020682 0.00003
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr) rs781356156 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg) rs561922486 0.00003
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00003
NM_001369.3(DNAH5):c.6444+1G>A rs781236248 0.00003
NM_001369.3(DNAH5):c.660+10A>G rs750383077 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.8261G>A (p.Gly2754Asp) rs546101625 0.00003
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00003
NM_001369.3(DNAH5):c.8821-7A>G rs776228125 0.00003
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met) rs552782157 0.00003
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401 0.00003
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn) rs374206128 0.00003
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00003
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly) rs483353127 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.1222G>A (p.Val408Met) rs794727103 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_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys) rs773921234 0.00003
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg) rs778572911 0.00003
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala) rs931555570 0.00003
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00003
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) rs576683556 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_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) rs1024875120 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_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser) rs1018709493 0.00002
NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln) rs761713335 0.00002
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser) rs1325718181 0.00002
NM_001277115.2(DNAH11):c.10333-5T>G rs1416530706 0.00002
NM_001277115.2(DNAH11):c.10393A>G (p.Ile3465Val) rs990403391 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.10746C>G (p.Ile3582Met) rs1180673603 0.00002
NM_001277115.2(DNAH11):c.11069A>C (p.Glu3690Ala) rs951421085 0.00002
NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln) rs774855826 0.00002
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val) rs200664169 0.00002
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala) rs780042783 0.00002
NM_001277115.2(DNAH11):c.12848T>C (p.Leu4283Pro) rs373110271 0.00002
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=) rs768305852 0.00002
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys) rs191791959 0.00002
NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser) rs368512197 0.00002
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr) rs370752481 0.00002
NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile) rs575221219 0.00002
NM_001277115.2(DNAH11):c.220G>A (p.Glu74Lys) rs753741123 0.00002
NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val) rs768205792 0.00002
NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu) rs753129819 0.00002
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly) rs185803317 0.00002
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser) rs368692202 0.00002
NM_001277115.2(DNAH11):c.3074A>G (p.Asn1025Ser) rs369273219 0.00002
NM_001277115.2(DNAH11):c.3474G>C (p.Gln1158His) rs574898096 0.00002
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala) rs747193364 0.00002
NM_001277115.2(DNAH11):c.3566T>C (p.Leu1189Pro) rs372526334 0.00002
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile) rs367884384 0.00002
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=) rs373969291 0.00002
NM_001277115.2(DNAH11):c.4581C>G (p.Asn1527Lys) rs766093573 0.00002
NM_001277115.2(DNAH11):c.4609A>G (p.Met1537Val) rs371095430 0.00002
NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met) rs752129504 0.00002
NM_001277115.2(DNAH11):c.4708G>A (p.Val1570Met) rs754155714 0.00002
NM_001277115.2(DNAH11):c.47C>T (p.Ala16Val) rs1000525671 0.00002
NM_001277115.2(DNAH11):c.4886A>G (p.Tyr1629Cys) rs750494795 0.00002
NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile) rs764579746 0.00002
NM_001277115.2(DNAH11):c.5404A>G (p.Ile1802Val) rs771431346 0.00002
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His) rs750430725 0.00002
NM_001277115.2(DNAH11):c.562A>G (p.Met188Val) rs748728894 0.00002
NM_001277115.2(DNAH11):c.5660T>C (p.Met1887Thr) rs772423148 0.00002
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=) rs763685245 0.00002
NM_001277115.2(DNAH11):c.6005G>A (p.Arg2002Gln) rs755849132 0.00002
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val) rs375824434 0.00002
NM_001277115.2(DNAH11):c.6190G>A (p.Asp2064Asn) rs756809691 0.00002
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn) rs750251384 0.00002
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser) rs995773912 0.00002
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu) rs180970138 0.00002
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys) rs267601454 0.00002
NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys) rs376929592 0.00002
NM_001277115.2(DNAH11):c.8353A>G (p.Ile2785Val) rs776228270 0.00002
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His) rs762986683 0.00002
NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn) rs766622461 0.00002
NM_001277115.2(DNAH11):c.9838G>A (p.Glu3280Lys) rs369078097 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.10292T>C (p.Val3431Ala) rs752629273 0.00002
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys) rs551833939 0.00002
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg) rs756837998 0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met) rs773699669 0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779 0.00002
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689 0.00002
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys) rs777295839 0.00002
NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu) rs1162532498 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.1981C>T (p.Arg661Cys) rs763771549 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.207T>A (p.Asp69Glu) rs777266031 0.00002
NM_001369.3(DNAH5):c.2170A>G (p.Met724Val) rs202195680 0.00002
NM_001369.3(DNAH5):c.2563C>T (p.Leu855Phe) rs373146819 0.00002
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln) rs776671484 0.00002
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly) rs1004254149 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) rs774680760 0.00002
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe) rs970151715 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.5624C>T (p.Thr1875Met) rs141131693 0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met) rs190749755 0.00002
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile) rs769656114 0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=) rs767344710 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.7574G>A (p.Gly2525Glu) rs1465026258 0.00002
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val) rs773382166 0.00002
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys) rs140576123 0.00002
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys) rs764288193 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.8311C>T (p.Arg2771Cys) rs769557047 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.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719 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_017802.4(DNAAF5):c.11T>C (p.Leu4Pro) rs1314198845 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.610+1G>A rs758109864 0.00002
NM_178452.6(DNAAF1):c.1645-2A>C rs764066045 0.00002
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) rs750513286 0.00002
NM_001010892.3(RSPH4A):c.1082G>T (p.Gly361Val) rs757303224 0.00001
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu) rs372004762 0.00001
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val) rs1242143931 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_001034853.2(RPGR):c.311-1G>A rs1156891581 0.00001
NM_001256715.2(DNAAF3):c.-59C>T rs376972065 0.00001
NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu) rs200938793 0.00001
NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp) rs771208403 0.00001
NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys) rs772016314 0.00001
NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser) rs757740647 0.00001
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr) rs756499246 0.00001
NM_001277115.2(DNAH11):c.10183C>G (p.Gln3395Glu) rs759904861 0.00001
NM_001277115.2(DNAH11):c.10317C>G (p.Pro3439=) rs1271974995 0.00001
NM_001277115.2(DNAH11):c.10703T>G (p.Ile3568Ser) rs1397601481 0.00001
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro) rs1238887554 0.00001
NM_001277115.2(DNAH11):c.1078T>A (p.Leu360Ile) rs777435555 0.00001
NM_001277115.2(DNAH11):c.11029A>G (p.Thr3677Ala) rs190727141 0.00001
NM_001277115.2(DNAH11):c.11039C>T (p.Thr3680Ile) rs759665328 0.00001
NM_001277115.2(DNAH11):c.11062-4A>G rs376085865 0.00001
NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met) rs757371608 0.00001
NM_001277115.2(DNAH11):c.11275A>G (p.Ile3759Val) rs1247510142 0.00001
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn) rs746315507 0.00001
NM_001277115.2(DNAH11):c.11324C>T (p.Ala3775Val) rs776464348 0.00001
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala) rs760795257 0.00001
NM_001277115.2(DNAH11):c.11504C>T (p.Ala3835Val) rs72658810 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.11650C>G (p.Leu3884Val) rs748676766 0.00001
NM_001277115.2(DNAH11):c.11683G>A (p.Ala3895Thr) rs1203128467 0.00001
NM_001277115.2(DNAH11):c.11782C>A (p.Pro3928Thr) rs200216795 0.00001
NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln) rs1360840874 0.00001
NM_001277115.2(DNAH11):c.11875T>G (p.Phe3959Val) rs374323457 0.00001
NM_001277115.2(DNAH11):c.1187T>A (p.Ile396Asn) rs763405163 0.00001
NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser) rs186794216 0.00001
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=) rs537127251 0.00001
NM_001277115.2(DNAH11):c.12046T>G (p.Tyr4016Asp) rs747067327 0.00001
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val) rs765636819 0.00001
NM_001277115.2(DNAH11):c.12264C>T (p.His4088=) rs368428210 0.00001
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His) rs753983449 0.00001
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala) rs748398869 0.00001
NM_001277115.2(DNAH11):c.12785T>C (p.Leu4262Pro) rs751754128 0.00001
NM_001277115.2(DNAH11):c.1286C>T (p.Thr429Ile) rs753357981 0.00001
NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln) rs780660397 0.00001
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr) rs144401534 0.00001
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=) rs755777338 0.00001
NM_001277115.2(DNAH11):c.13246G>A (p.Glu4416Lys) rs764231441 0.00001
NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr) rs771449722 0.00001
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro) rs753634502 0.00001
NM_001277115.2(DNAH11):c.1589A>T (p.Asn530Ile) rs770674615 0.00001
NM_001277115.2(DNAH11):c.1750G>A (p.Val584Ile) rs371748491 0.00001
NM_001277115.2(DNAH11):c.177G>T (p.Val59=) rs751721373 0.00001
NM_001277115.2(DNAH11):c.1913C>A (p.Ala638Asp) rs765276365 0.00001
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter) rs1228238442 0.00001
NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr) rs755966311 0.00001
NM_001277115.2(DNAH11):c.2077A>T (p.Asn693Tyr) rs377237884 0.00001
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=) rs757207387 0.00001
NM_001277115.2(DNAH11):c.2252A>G (p.Lys751Arg) rs377077037 0.00001
NM_001277115.2(DNAH11):c.2403G>A (p.Thr801=) rs767657769 0.00001
NM_001277115.2(DNAH11):c.2435A>T (p.Tyr812Phe) rs560268294 0.00001
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys) rs529566924 0.00001
NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly) rs776262883 0.00001
NM_001277115.2(DNAH11):c.2476A>G (p.Arg826Gly) rs760855822 0.00001
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu) rs1427132712 0.00001
NM_001277115.2(DNAH11):c.2563C>T (p.His855Tyr) rs1252556407 0.00001
NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu) rs774136727 0.00001
NM_001277115.2(DNAH11):c.259C>T (p.Arg87Trp) rs560422553 0.00001
NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu) rs1211920866 0.00001
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr) rs767822847 0.00001
NM_001277115.2(DNAH11):c.2737G>A (p.Asp913Asn) rs749413158 0.00001
NM_001277115.2(DNAH11):c.2855C>T (p.Pro952Leu) rs1279849861 0.00001
NM_001277115.2(DNAH11):c.2933G>A (p.Cys978Tyr) rs769462010 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.3263T>C (p.Ile1088Thr) rs755583135 0.00001
NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn) rs746194866 0.00001
NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala) rs753277227 0.00001
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00001
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu) rs374802008 0.00001
NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu) rs777319170 0.00001
NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr) rs763751899 0.00001
NM_001277115.2(DNAH11):c.3821A>C (p.Asn1274Thr) rs913756108 0.00001
NM_001277115.2(DNAH11):c.3959G>A (p.Arg1320His) rs1173183119 0.00001
NM_001277115.2(DNAH11):c.4052T>A (p.Ile1351Asn) rs202100672 0.00001
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val) rs1388797554 0.00001
NM_001277115.2(DNAH11):c.4108C>T (p.Leu1370Phe) rs1276808115 0.00001
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp) rs373292392 0.00001
NM_001277115.2(DNAH11):c.4132G>A (p.Asp1378Asn) rs752199848 0.00001
NM_001277115.2(DNAH11):c.4250T>C (p.Ile1417Thr) rs536675513 0.00001
NM_001277115.2(DNAH11):c.4300G>A (p.Ala1434Thr) rs772534040 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.4425C>T (p.Tyr1475=) rs373706559 0.00001
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=) rs768404181 0.00001
NM_001277115.2(DNAH11):c.4532A>T (p.Tyr1511Phe) rs565283604 0.00001
NM_001277115.2(DNAH11):c.4582A>G (p.Ile1528Val) rs1281559792 0.00001
NM_001277115.2(DNAH11):c.466C>G (p.Leu156Val) rs10269832 0.00001
NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met) rs778000913 0.00001
NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe) rs1433172197 0.00001
NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly) rs548213797 0.00001
NM_001277115.2(DNAH11):c.4864C>T (p.Arg1622Cys) rs566705895 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val) rs745519889 0.00001
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val) rs377210446 0.00001
NM_001277115.2(DNAH11):c.529C>T (p.His177Tyr) rs752016007 0.00001
NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val) rs764134388 0.00001
NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu) rs1366183602 0.00001
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val) rs776549742 0.00001
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=) rs373354778 0.00001
NM_001277115.2(DNAH11):c.5492C>G (p.Ser1831Cys) rs751199223 0.00001
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys) rs180897552 0.00001
NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln) rs749869317 0.00001
NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr) rs1339960032 0.00001
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile) rs376904276 0.00001
NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val) rs886038470 0.00001
NM_001277115.2(DNAH11):c.5737A>G (p.Met1913Val) rs1352586389 0.00001
NM_001277115.2(DNAH11):c.574A>G (p.Ile192Val) rs759792491 0.00001
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln) rs761919869 0.00001
NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn) rs1327756504 0.00001
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser) rs769169485 0.00001
NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg) rs777405662 0.00001
NM_001277115.2(DNAH11):c.6436C>T (p.Arg2146Cys) rs778936667 0.00001
NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn) rs186535951 0.00001
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg) rs970001175 0.00001
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu) rs376475480 0.00001
NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly) rs372541483 0.00001
NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg) rs1428341575 0.00001
NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile) rs756010097 0.00001
NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His) rs374151422 0.00001
NM_001277115.2(DNAH11):c.7337A>G (p.Gln2446Arg) rs756225547 0.00001
NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg) rs770671851 0.00001
NM_001277115.2(DNAH11):c.7427A>G (p.Asp2476Gly) rs1418164564 0.00001
NM_001277115.2(DNAH11):c.7486A>G (p.Met2496Val) rs776955021 0.00001
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala) rs777454538 0.00001
NM_001277115.2(DNAH11):c.7595T>A (p.Ile2532Lys) rs531303537 0.00001
NM_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg) rs1399609437 0.00001
NM_001277115.2(DNAH11):c.7847A>G (p.His2616Arg) rs750580632 0.00001
NM_001277115.2(DNAH11):c.7861G>A (p.Val2621Ile) rs1444502845 0.00001
NM_001277115.2(DNAH11):c.7896C>T (p.Thr2632=) rs770327227 0.00001
NM_001277115.2(DNAH11):c.793C>T (p.Arg265Cys) rs769397639 0.00001
NM_001277115.2(DNAH11):c.7954G>A (p.Asp2652Asn) rs749250864 0.00001
NM_001277115.2(DNAH11):c.7982T>C (p.Ile2661Thr) rs372730542 0.00001
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=) rs764608320 0.00001
NM_001277115.2(DNAH11):c.8059A>G (p.Ile2687Val) rs777290108 0.00001
NM_001277115.2(DNAH11):c.8060T>C (p.Ile2687Thr) rs564514095 0.00001
NM_001277115.2(DNAH11):c.8098A>G (p.Thr2700Ala) rs376421903 0.00001
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met) rs369684624 0.00001
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr) rs751575627 0.00001
NM_001277115.2(DNAH11):c.8146G>A (p.Val2716Ile) rs368833424 0.00001
NM_001277115.2(DNAH11):c.8147T>C (p.Val2716Ala) rs777735154 0.00001
NM_001277115.2(DNAH11):c.814T>A (p.Leu272Met) rs761709401 0.00001
NM_001277115.2(DNAH11):c.820C>T (p.Pro274Ser) rs1443828697 0.00001
NM_001277115.2(DNAH11):c.8228C>T (p.Ala2743Val) rs755229531 0.00001
NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr) rs774996068 0.00001
NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val) rs768309014 0.00001
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=) rs570532098 0.00001
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu) rs1420930266 0.00001
NM_001277115.2(DNAH11):c.8450A>C (p.Asn2817Thr) rs1315440559 0.00001
NM_001277115.2(DNAH11):c.8473A>G (p.Met2825Val) rs376252134 0.00001
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val) rs368102189 0.00001
NM_001277115.2(DNAH11):c.8573G>A (p.Gly2858Asp) rs757621175 0.00001
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser) rs377630570 0.00001
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val) rs778125255 0.00001
NM_001277115.2(DNAH11):c.8684C>T (p.Ala2895Val) rs530087550 0.00001
NM_001277115.2(DNAH11):c.8716A>G (p.Met2906Val) rs1412176108 0.00001
NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val) rs1216328081 0.00001
NM_001277115.2(DNAH11):c.883-4T>G rs781560218 0.00001
NM_001277115.2(DNAH11):c.8842A>G (p.Ile2948Val) rs1343210471 0.00001
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile) rs80267624 0.00001
NM_001277115.2(DNAH11):c.905A>C (p.Lys302Thr) rs1479197164 0.00001
NM_001277115.2(DNAH11):c.9095G>A (p.Gly3032Glu) rs1490098860 0.00001
NM_001277115.2(DNAH11):c.9152C>T (p.Thr3051Ile) rs1335985800 0.00001
NM_001277115.2(DNAH11):c.9166A>G (p.Ser3056Gly) rs924923201 0.00001
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser) rs781116833 0.00001
NM_001277115.2(DNAH11):c.925A>G (p.Thr309Ala) rs563007836 0.00001
NM_001277115.2(DNAH11):c.9301A>G (p.Asn3101Asp) rs372462580 0.00001
NM_001277115.2(DNAH11):c.9311A>G (p.Gln3104Arg) rs759715306 0.00001
NM_001277115.2(DNAH11):c.9364T>C (p.Ser3122Pro) rs1484104041 0.00001
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile) rs1388667729 0.00001
NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln) rs762421117 0.00001
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp) rs761102719 0.00001
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=) rs758640720 0.00001
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg) rs759321222 0.00001
NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn) rs376353940 0.00001
NM_001277115.2(DNAH11):c.9655A>G (p.Thr3219Ala) rs1166321526 0.00001
NM_001277115.2(DNAH11):c.9733A>G (p.Met3245Val) rs1307575374 0.00001
NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn) rs537824201 0.00001
NM_001277115.2(DNAH11):c.9791C>T (p.Pro3264Leu) rs374439635 0.00001
NM_001277115.2(DNAH11):c.9839A>C (p.Glu3280Ala) rs747943621 0.00001
NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg) rs780566776 0.00001
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00001
NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly) rs1281163225 0.00001
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800 0.00001
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly) rs778204627 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 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.11038G>T (p.Gly3680Cys) rs777140914 0.00001
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys) rs750661309 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.11785G>A (p.Ala3929Thr) rs1167911121 0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.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.12223A>G (p.Met4075Val) rs1423192314 0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) rs752895938 0.00001
NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His) rs199672743 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=) rs763160068 0.00001
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) rs375694023 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008 0.00001
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His) rs780181944 0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His) rs202034094 0.00001
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr) rs750565633 0.00001
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg) rs1161303371 0.00001
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr) rs774279588 0.00001
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln) rs776722304 0.00001
NM_001369.3(DNAH5):c.172G>A (p.Ala58Thr) rs770299088 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr) rs764337568 0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg) rs564653952 0.00001
NM_001369.3(DNAH5):c.193-6T>G rs762313659 0.00001
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp) rs202042110 0.00001
NM_001369.3(DNAH5):c.2035A>G (p.Arg679Gly) rs774319188 0.00001
NM_001369.3(DNAH5):c.2259+8A>G rs202137813 0.00001
NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr) rs200486203 0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008 0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.2674del (p.Val892fs) rs1772380356 0.00001
NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro) rs752452948 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798 0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg) rs780846691 0.00001
NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg) rs774760728 0.00001
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) rs752992572 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3683A>T (p.Glu1228Val) rs751848182 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649 0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) rs779020258 0.00001
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met) rs1390327836 0.00001
NM_001369.3(DNAH5):c.4329C>T (p.Asn1443=) rs750736449 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu) rs781466090 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=) rs1368574132 0.00001
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala) rs766353067 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.5539A>G (p.Arg1847Gly) rs774073166 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.5583G>T (p.Gln1861His) rs756945139 0.00001
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys) rs759059925 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.6183G>A (p.Lys2061=) rs1763433728 0.00001
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg) rs767274970 0.00001
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp) rs774191944 0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228 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.646A>G (p.Ser216Gly) rs757602565 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.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.7273C>T (p.Arg2425Cys) rs376707969 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.7557G>A (p.Pro2519=) rs1277087280 0.00001
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu) rs369824303 0.00001
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) rs771328747 0.00001
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met) rs766316984 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.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.8537C>T (p.Ala2846Val) rs200457834 0.00001
NM_001369.3(DNAH5):c.8744A>G (p.Gln2915Arg) rs1015446414 0.00001
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val) rs929329118 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.8998C>T (p.Arg3000Ter) rs769054713 0.00001
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg) rs1348742926 0.00001
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=) rs765029802 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.928A>C (p.Lys310Gln) rs1776986431 0.00001
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340 0.00001
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter) rs758303032 0.00001
NM_001369.3(DNAH5):c.9477G>A (p.Lys3159=) rs1300247439 0.00001
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg) rs771825187 0.00001
NM_001369.3(DNAH5):c.9586G>A (p.Val3196Met) rs369982479 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.9685A>G (p.Lys3229Glu) rs561380021 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333 0.00001
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala) rs542064804 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_001369.3(DNAH5):c.9961C>T (p.Arg3321Trp) rs763063590 0.00001
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln) rs750927507 0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs) rs1752478598 0.00001
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=) rs1038607014 0.00001
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=) rs2492094878 0.00001
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.139del (p.Ala47fs) rs1824446213 0.00001
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer) rs751920647 0.00001
NM_012144.4(DNAI1):c.1569+1G>T rs1465404366 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn) rs1371519471 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter) rs1416324075 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012144.4(DNAI1):c.995G>A (p.Arg332His) rs766941804 0.00001
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met) rs777008597 0.00001
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile) rs762425082 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 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.2216G>A (p.Arg739Gln) rs774558527 0.00001
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met) rs548988225 0.00001
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg) rs765285682 0.00001
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter) rs756868374 0.00001
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs) rs1567876609 0.00001
NM_023036.6(DNAI2):c.1494+1G>A rs397515565 0.00001
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter) rs772133192 0.00001
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter) rs780116486 0.00001
NM_023036.6(DNAI2):c.725-5A>G rs1262236006 0.00001
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln) rs755060592 0.00001
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00001
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) rs775618173 0.00001
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln) rs374704486 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(DNAAF19):c.144-1G>A rs747091524 0.00001
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu) rs1775514576
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile) rs1380365858
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.46A>G (p.Thr16Ala)
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.133C>T (p.Pro45Ser)
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp) rs372161739
NM_001277115.2(DNAH11):c.10091G>A (p.Arg3364Gln) rs369682703
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu) rs369682703
NM_001277115.2(DNAH11):c.10110C>T (p.Asn3370=) rs746877733
NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp) rs766787311
NM_001277115.2(DNAH11):c.10286G>T (p.Arg3429Leu)
NM_001277115.2(DNAH11):c.10297G>A (p.Val3433Met)
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met) rs573384750
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser) rs2214326
NM_001277115.2(DNAH11):c.10673A>G (p.Asn3558Ser) rs752231547
NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu) rs770336845
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro) rs771256529
NM_001277115.2(DNAH11):c.10966C>T (p.Arg3656Cys) rs755487851
NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu) rs1220335751
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser) rs370458679
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.11211C>T (p.Asn3737=) rs752898983
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met) rs201120788
NM_001277115.2(DNAH11):c.11257A>G (p.Met3753Val) rs1026816105
NM_001277115.2(DNAH11):c.11442C>G (p.His3814Gln) rs370056975
NM_001277115.2(DNAH11):c.11446C>T (p.His3816Tyr) rs745855957
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.1159T>G (p.Leu387Val) rs778901546
NM_001277115.2(DNAH11):c.11860A>G (p.Ile3954Val)
NM_001277115.2(DNAH11):c.11906A>G (p.Glu3969Gly) rs1273080022
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile) rs1431407809
NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile) rs578153138
NM_001277115.2(DNAH11):c.1207C>T (p.Leu403Phe)
NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val) rs777887934
NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile) rs1283821643
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln) rs369549112
NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile) rs746738432
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met) rs560018723
NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr) rs1246017758
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.1366C>G (p.Gln456Glu) rs1345508201
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser) rs374144841
NM_001277115.2(DNAH11):c.1643A>G (p.Asp548Gly) rs374191991
NM_001277115.2(DNAH11):c.1643A>T (p.Asp548Val) rs374191991
NM_001277115.2(DNAH11):c.175G>A (p.Val59Met) rs1284215510
NM_001277115.2(DNAH11):c.1778G>A (p.Ser593Asn) rs754774362
NM_001277115.2(DNAH11):c.1862A>G (p.His621Arg)
NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu) rs755002843
NM_001277115.2(DNAH11):c.200C>A (p.Ala67Glu)
NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys) rs754405810
NM_001277115.2(DNAH11):c.2064T>A (p.Asn688Lys)
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu) rs377725666
NM_001277115.2(DNAH11):c.2179G>A (p.Val727Ile)
NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr) rs749673513
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu) rs762314534
NM_001277115.2(DNAH11):c.2498A>C (p.Asn833Thr) rs778255538
NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser) rs1171160143
NM_001277115.2(DNAH11):c.2600G>T (p.Gly867Val) rs1307428257
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser) rs375268953
NM_001277115.2(DNAH11):c.2714A>C (p.Lys905Thr) rs778362196
NM_001277115.2(DNAH11):c.2774A>T (p.His925Leu) rs759163666
NM_001277115.2(DNAH11):c.2836G>A (p.Ala946Thr)
NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu) rs1236592830
NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr) rs1276704052
NM_001277115.2(DNAH11):c.3152A>G (p.His1051Arg) rs375664853
NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr) rs367665090
NM_001277115.2(DNAH11):c.3260A>G (p.Asp1087Gly) rs1297331528
NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln) rs1471867391
NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp) rs781520837
NM_001277115.2(DNAH11):c.3557C>T (p.Thr1186Ile) rs757753783
NM_001277115.2(DNAH11):c.3622C>G (p.Pro1208Ala) rs766166470
NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr) rs150717084
NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys) rs375160708
NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly) rs1235025695
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met) rs779250701
NM_001277115.2(DNAH11):c.3982G>C (p.Gly1328Arg)
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4123C>T (p.Arg1375Cys) rs775354685
NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln) rs773424828
NM_001277115.2(DNAH11):c.4314C>A (p.His1438Gln)
NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr) rs1021905098
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala) rs769397725
NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala) rs758562003
NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys) rs770148208
NM_001277115.2(DNAH11):c.495+1G>T rs377623604
NM_001277115.2(DNAH11):c.4987C>G (p.Leu1663Val) rs541180386
NM_001277115.2(DNAH11):c.514T>G (p.Ser172Ala) rs1337921591
NM_001277115.2(DNAH11):c.5224G>A (p.Ala1742Thr) rs764052634
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly) rs916862604
NM_001277115.2(DNAH11):c.529C>G (p.His177Asp) rs752016007
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs) rs778733267
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg) rs768697972
NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val) rs534484091
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg) rs767246053
NM_001277115.2(DNAH11):c.5740G>A (p.Val1914Ile) rs201671992
NM_001277115.2(DNAH11):c.5843A>C (p.Asn1948Thr) rs754385182
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val) rs536513593
NM_001277115.2(DNAH11):c.5974T>C (p.Phe1992Leu) rs776830736
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr) rs1465555535
NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val) rs368561050
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met) rs769000578
NM_001277115.2(DNAH11):c.6119G>A (p.Arg2040His) rs751779702
NM_001277115.2(DNAH11):c.6143C>T (p.Thr2048Met) rs184241449
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met) rs773630976
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro) rs563280837
NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val) rs1562499077
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) rs727505321
NM_001277115.2(DNAH11):c.6593C>T (p.Pro2198Leu) rs745741888
NM_001277115.2(DNAH11):c.6620C>T (p.Ala2207Val) rs758080566
NM_001277115.2(DNAH11):c.6698A>G (p.Tyr2233Cys) rs182160568
NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu) rs368383022
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val) rs767273694
NM_001277115.2(DNAH11):c.6984G>A (p.Pro2328=) rs761918179
NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val) rs549049467
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val) rs1415224732
NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys) rs1207409225
NM_001277115.2(DNAH11):c.728T>C (p.Ile243Thr) rs750214113
NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn) rs998505687
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.7570T>A (p.Leu2524Met) rs2072220
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=) rs753465818
NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr) rs764813626
NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn) rs770532527
NM_001277115.2(DNAH11):c.8050C>G (p.Gln2684Glu) rs1230080456
NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp) rs549585242
NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn) rs768758217
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn) rs776368544
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu) rs749849152
NM_001277115.2(DNAH11):c.9121A>G (p.Ile3041Val) rs755550337
NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr) rs770558724
NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val) rs566490774
NM_001277115.2(DNAH11):c.9542T>A (p.Leu3181His) rs747056886
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser) rs762025592
NM_001277115.2(DNAH11):c.963T>G (p.Ile321Met)
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met) rs535546772
NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val) rs1188195580
NM_001277115.2(DNAH11):c.9790C>G (p.Pro3264Ala) rs571709285
NM_001277115.2(DNAH11):c.9790C>T (p.Pro3264Ser) rs571709285
NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys) rs779389497
NM_001364171.2(ODAD1):c.598-5C>G rs10416590
NM_001369.3(DNAH5):c.10101+7A>C rs1752459130
NM_001369.3(DNAH5):c.10196dup (p.Cys3400fs) rs1751967064
NM_001369.3(DNAH5):c.10363C>G (p.Gln3455Glu) rs1433859526
NM_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter) rs772481807
NM_001369.3(DNAH5):c.10399del (p.Gln3467fs)
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val) rs755793521
NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter) rs1750671525
NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs) rs1380450190
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn) rs765033981
NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs) rs1353723750
NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter) rs1283070426
NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter) rs1295167678
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter) rs1204076551
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter) rs2546611536
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=) rs2546570054
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter) rs1443845070
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys) rs770233429
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.1176G>C (p.Lys392Asn) rs992976251
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.11804C>A (p.Ser3935Ter) rs1579942510
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr) rs758777667
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu) rs144287016
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val) rs770252526
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter) rs1744699899
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter) rs192894455
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr) rs150010518
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter) rs762673561
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile) rs138045391
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.12910-1G>C rs1561097225
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.12990G>A (p.Lys4330=) rs2126493433
NM_001369.3(DNAH5):c.13005C>G (p.Thr4335=) rs755271975
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.13096A>T (p.Lys4366Ter)
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly) rs150046963
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser) rs146334067
NM_001369.3(DNAH5):c.13309del (p.Asp4437fs) rs1743038020
NM_001369.3(DNAH5):c.13338del (p.Ala4447fs) rs1554017211
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13398C>T (p.Ser4466=) rs1467639190
NM_001369.3(DNAH5):c.13410G>C (p.Ser4470=) rs368920785
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter) rs1742088018
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13548A>G (p.Glu4516=) rs1742000009
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.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.3(DNAH5):c.1437C>T (p.Arg479=) rs750516422
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter) rs2151977768
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile) rs1216204013
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) rs753367747
NM_001369.3(DNAH5):c.1692C>T (p.Asn564=) rs1316083016
NM_001369.3(DNAH5):c.1701del (p.Ala568fs)
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.2100_2106del (p.Pro701fs) rs2547088109
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.2415C>T (p.Asn805=) rs1342623034
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.271G>T (p.Glu91Ter) rs750649191
NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter) rs1772369775
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.2839_2842del (p.Glu947fs) rs1772220687
NM_001369.3(DNAH5):c.3020del (p.Leu1007fs) rs1771899943
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs) rs762081081
NM_001369.3(DNAH5):c.3387C>T (p.Ser1129=) rs1472087285
NM_001369.3(DNAH5):c.3393A>G (p.Lys1131=) rs2151928916
NM_001369.3(DNAH5):c.3396+9A>C rs1770935026
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs) rs775866092
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
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.3984G>A (p.Lys1328=) rs1274489051
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe) rs1015850611
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr) rs1364768386
NM_001369.3(DNAH5):c.4157del (p.Thr1386fs) rs1554082872
NM_001369.3(DNAH5):c.4182G>C (p.Leu1394=) rs764257263
NM_001369.3(DNAH5):c.4356-4A>C rs369128105
NM_001369.3(DNAH5):c.4389G>A (p.Trp1463Ter)
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg) rs746308685
NM_001369.3(DNAH5):c.4515_4516del (p.His1505fs) rs2151908560
NM_001369.3(DNAH5):c.4566A>C (p.Ala1522=) rs775511692
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) rs1344601147
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln) rs778890170
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter) rs760869074
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter) rs1580543538
NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter) rs146087064
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr) rs770108485
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.5527G>T (p.Glu1843Ter)
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.5598A>G (p.Leu1866=) rs2546908278
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5871A>G (p.Pro1957=) rs1764851174
NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter) rs751690064
NM_001369.3(DNAH5):c.5949C>G (p.Gly1983=)
NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter) rs1763540075
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.6293del (p.Lys2098fs) rs1060501461
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs) rs2151835119
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter) rs1064795496
NM_001369.3(DNAH5):c.6501A>G (p.Ala2167=) rs1277792544
NM_001369.3(DNAH5):c.6552A>G (p.Val2184=) rs2546857621
NM_001369.3(DNAH5):c.6611del (p.Ser2203_Leu2204insTer) rs2546853775
NM_001369.3(DNAH5):c.6612G>A (p.Leu2204=) rs2546853760
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
NM_001369.3(DNAH5):c.6682A>C (p.Arg2228=) rs1762460445
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter) rs1762460445
NM_001369.3(DNAH5):c.6738C>T (p.Ile2246=) rs1334947617
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
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>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys) rs201469471
NM_001369.3(DNAH5):c.7340dup (p.Met2447fs) rs2127026775
NM_001369.3(DNAH5):c.7389del (p.Gly2464fs)
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr) rs774699675
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs) rs1465499923
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7668C>T (p.Thr2556=) rs2546800904
NM_001369.3(DNAH5):c.769A>G (p.Met257Val) rs759576627
NM_001369.3(DNAH5):c.7870A>G (p.Thr2624Ala) rs1296034184
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter) rs2126901167
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs) rs1178766548
NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter) rs777361601
NM_001369.3(DNAH5):c.8568T>G (p.Gly2856=) rs1239991919
NM_001369.3(DNAH5):c.8575A>G (p.Lys2859Glu) rs776408335
NM_001369.3(DNAH5):c.8685_8686insCC (p.Ile2896fs) rs2546713623
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser) rs768141871
NM_001369.3(DNAH5):c.884C>A (p.Ser295Tyr) rs375537280
NM_001369.3(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.3(DNAH5):c.9039dup (p.Thr3014fs) rs1754234425
NM_001369.3(DNAH5):c.9105+2T>C rs1580179985
NM_001369.3(DNAH5):c.9106-1G>A rs757846582
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu) rs200839716
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn) rs1171709721
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.9258C>T (p.Leu3086=) rs2546678953
NM_001369.3(DNAH5):c.925G>A (p.Val309Met) rs776025009
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe) rs773045896
NM_001369.3(DNAH5):c.9514dup (p.His3172fs) rs1561215326
NM_001369.3(DNAH5):c.952del (p.Ala318fs) rs2547144024
NM_001369.3(DNAH5):c.9605+1del rs2546662562
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9730del (p.Glu3244fs) rs1223462735
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.9805del (p.Ile3269fs) rs2546656292
NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter) rs1776744623
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.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs) rs867262419
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs) rs1825102855
NM_012144.4(DNAI1):c.155del (p.Pro52fs)
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.192G>A (p.Glu64=) rs2132057666
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter) rs1824451856
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=) rs919734920
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=) rs1825263545
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.556dup (p.Arg186fs) rs1824564676
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) rs1821475039
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs) rs751191119
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2832+4A>G
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_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala) rs547924178
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg) rs541232616
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.1122del (p.Phe375fs) rs2053123483
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=) rs868645915
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=) rs2053130363
NM_023036.6(DNAI2):c.1212-7C>T rs1598339876
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.132del (p.Asn45fs) rs1567840448
NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter) rs143723454
NM_023036.6(DNAI2):c.1422del (p.Thr475fs) rs1240172375
NM_023036.6(DNAI2):c.1494+1G>T rs397515565
NM_023036.6(DNAI2):c.1516C>T (p.Arg506Ter) rs141581673
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1722+1G>A rs2053569243
NM_023036.6(DNAI2):c.184-8C>T rs2143902452
NM_023036.6(DNAI2):c.231dup (p.Glu78fs) rs2509692646
NM_023036.6(DNAI2):c.250del (p.Asp84fs) rs769251936
NM_023036.6(DNAI2):c.480A>G (p.Glu160=) rs2143940713
NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter) rs1194460219
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023036.6(DNAI2):c.798G>A (p.Val266=) rs1598313604
NM_023036.6(DNAI2):c.873G>A (p.Trp291Ter)
NM_023036.6(DNAI2):c.903T>C (p.Thr301=) rs2144035167
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del) rs397515340
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.2165C>T (p.Pro722Leu) rs775816960
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_213607.3(DNAAF19):c.289dup (p.Leu97fs) rs1292757961

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