ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 4492
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly) rs765224300 0.29559
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly) rs751314374 0.00844
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_181426.2(CCDC39):c.1665+5A>G rs560658609 0.00102
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His) rs141532428 0.00092
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu) rs1031852692 0.00090
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu) rs200673226 0.00080
NM_145038.5(DRC1):c.1750T>A (p.Ser584Thr) rs147712523 0.00078
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
NM_145038.5(DRC1):c.2122A>C (p.Asn708His) rs147970345 0.00069
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_001206927.2(DNAH8):c.2096G>A (p.Arg699His) rs141983502 0.00067
NM_001364171.2(ODAD1):c.1796T>C (p.Phe599Ser) rs144225230 0.00065
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp) rs113332942 0.00064
NM_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys) rs143707632 0.00059
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00056
NM_001206927.2(DNAH8):c.2150C>G (p.Ser717Cys) rs145798237 0.00055
NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp) rs199882635 0.00055
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg) rs142141660 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_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 0.00053
NM_021147.5(CCNO):c.685G>A (p.Gly229Ser) rs139980939 0.00052
NM_213607.3(DNAAF19):c.275C>T (p.Pro92Leu) rs142342712 0.00050
NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys) rs143552625 0.00049
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val) rs539275390 0.00048
NM_001206927.2(DNAH8):c.11695C>T (p.Arg3899Trp) rs138030174 0.00048
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys) rs151313083 0.00048
NM_145038.5(DRC1):c.1172C>T (p.Ala391Val) rs148372110 0.00048
NM_001206927.2(DNAH8):c.4375G>A (p.Asp1459Asn) rs151175737 0.00047
NM_080860.4(RSPH1):c.919C>T (p.Leu307Phe) rs141886699 0.00047
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro) rs377241996 0.00046
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) rs200459402 0.00046
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00045
NM_145038.5(DRC1):c.1840C>G (p.Pro614Ala) rs372284377 0.00045
NM_001364171.2(ODAD1):c.566G>A (p.Arg189His) rs569554228 0.00044
NM_017950.4(CCDC40):c.552G>A (p.Leu184=) rs141588728 0.00044
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu) rs150182125 0.00044
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn) rs199649763 0.00044
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp) rs111451119 0.00043
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met) rs201231901 0.00041
NM_080860.4(RSPH1):c.916G>C (p.Asp306His) rs1052502852 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) rs199680570 0.00041
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00040
NM_001206927.2(DNAH8):c.10529A>G (p.Asn3510Ser) rs145843224 0.00040
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln) rs149778130 0.00040
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu) rs149924115 0.00040
NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu) rs572322476 0.00040
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_001206927.2(DNAH8):c.4111G>A (p.Glu1371Lys) rs149020489 0.00038
NM_001206927.2(DNAH8):c.9739A>G (p.Arg3247Gly) rs146938126 0.00038
NM_001206927.2(DNAH8):c.991A>G (p.Thr331Ala) rs143492695 0.00038
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile) rs377222257 0.00038
NM_001206927.2(DNAH8):c.12656G>A (p.Arg4219Gln) rs144808884 0.00036
NM_001206927.2(DNAH8):c.2804A>G (p.His935Arg) rs150379318 0.00036
NM_001206927.2(DNAH8):c.911T>C (p.Ile304Thr) rs138258349 0.00036
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg) rs201919395 0.00036
NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly) rs201998366 0.00036
NM_145038.5(DRC1):c.1420G>A (p.Ala474Thr) rs145706376 0.00036
NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val) rs185283741 0.00034
NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp) rs77322382 0.00034
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys) rs111822347 0.00034
NM_001010892.3(RSPH4A):c.1001C>A (p.Thr334Lys) rs149463940 0.00033
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu) rs201264312 0.00033
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val) rs199574440 0.00033
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00033
NM_001206927.2(DNAH8):c.6137A>G (p.Tyr2046Cys) rs200037660 0.00032
NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu) rs756968294 0.00032
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val) rs149958269 0.00032
NM_213607.3(DNAAF19):c.104G>A (p.Arg35Gln) rs587783065 0.00032
NM_001206927.2(DNAH8):c.644G>A (p.Gly215Glu) rs200815756 0.00031
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly) rs137935071 0.00031
NM_001206927.2(DNAH8):c.6694G>A (p.Val2232Ile) rs141684275 0.00030
NM_001364171.2(ODAD1):c.548T>G (p.Leu183Arg) rs554391472 0.00030
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr) rs199564182 0.00030
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His) rs77027689 0.00029
NM_145038.5(DRC1):c.1399G>C (p.Glu467Gln) rs149007147 0.00029
NM_001206927.2(DNAH8):c.4231A>G (p.Lys1411Glu) rs140704775 0.00028
NM_213607.3(DNAAF19):c.473C>T (p.Ala158Val) rs148834205 0.00028
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys) rs200466467 0.00027
NM_001364171.2(ODAD1):c.2005G>A (p.Gly669Arg) rs140189114 0.00027
NM_080860.4(RSPH1):c.797C>T (p.Pro266Leu) rs146309440 0.00027
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys) rs144990549 0.00027
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp) rs146725281 0.00027
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met) rs76598454 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_001206927.2(DNAH8):c.13607T>C (p.Leu4536Pro) rs138278528 0.00026
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr) rs367601192 0.00026
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) rs139743343 0.00026
NM_001206927.2(DNAH8):c.3706G>C (p.Asp1236His) rs201420305 0.00025
NM_001206927.2(DNAH8):c.384G>C (p.Glu128Asp) rs116164504 0.00025
NM_001206927.2(DNAH8):c.4610G>A (p.Arg1537His) rs375507271 0.00025
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu) rs145036630 0.00025
NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg) rs760933549 0.00025
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly) rs139583194 0.00025
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala) rs201794121 0.00025
NM_080860.4(RSPH1):c.673C>T (p.Pro225Ser) rs562591045 0.00024
NM_213607.3(DNAAF19):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe) rs561481156 0.00023
NM_001206927.2(DNAH8):c.7714A>C (p.Met2572Leu) rs151051760 0.00023
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser) rs776126134 0.00023
NM_001206927.2(DNAH8):c.13445T>C (p.Met4482Thr) rs142409299 0.00022
NM_001206927.2(DNAH8):c.5185A>C (p.Lys1729Gln) rs148767488 0.00022
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile) rs141955563 0.00022
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly) rs202052258 0.00022
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr) rs149398412 0.00022
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln) rs538389058 0.00022
NM_001206927.2(DNAH8):c.13562G>A (p.Arg4521His) rs143366223 0.00021
NM_001206927.2(DNAH8):c.2597A>G (p.Tyr866Cys) rs144797040 0.00021
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) rs72657327 0.00021
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met) rs150271983 0.00021
NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg) rs145255472 0.00021
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu) rs115620965 0.00021
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) rs370948871 0.00021
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr) rs201576715 0.00021
NM_145038.5(DRC1):c.26C>T (p.Ala9Val) rs146049908 0.00021
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala) rs200225521 0.00021
NM_001206927.2(DNAH8):c.7969T>C (p.Phe2657Leu) rs372849137 0.00020
NM_001206927.2(DNAH8):c.9839A>T (p.Gln3280Leu) rs180859001 0.00020
NM_017802.4(DNAAF5):c.380G>A (p.Gly127Asp) rs1209538602 0.00020
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00020
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn) rs145075337 0.00020
NM_001206927.2(DNAH8):c.10081G>A (p.Ala3361Thr) rs368251682 0.00019
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu) rs141818413 0.00019
NM_001206927.2(DNAH8):c.451A>G (p.Ile151Val) rs371708059 0.00019
NM_001206927.2(DNAH8):c.8224A>C (p.Ile2742Leu) rs371362386 0.00019
NM_001256715.2(DNAAF3):c.466C>T (p.Leu156Phe) rs372945469 0.00019
NM_001277115.2(DNAH11):c.1134_1139del (p.Asn379_Thr380del) rs765249771 0.00019
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn) rs375800869 0.00019
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro) rs549781788 0.00019
NM_021147.5(CCNO):c.605C>T (p.Ala202Val) rs143998638 0.00019
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys) rs532046902 0.00019
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_001206927.2(DNAH8):c.10841C>T (p.Pro3614Leu) rs368846740 0.00017
NM_001206927.2(DNAH8):c.11865G>T (p.Glu3955Asp) rs377043320 0.00017
NM_001206927.2(DNAH8):c.11972C>T (p.Thr3991Ile) rs145485818 0.00017
NM_001206927.2(DNAH8):c.13858C>T (p.Leu4620Phe) rs139810428 0.00017
NM_001206927.2(DNAH8):c.9811G>T (p.Ala3271Ser) rs137889757 0.00017
NM_001256715.2(DNAAF3):c.862G>A (p.Glu288Lys) rs551121979 0.00017
NM_017950.4(CCDC40):c.1025A>G (p.Gln342Arg) rs201057426 0.00017
NM_017950.4(CCDC40):c.1800C>G (p.Asp600Glu) rs965506812 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_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu) rs371869815 0.00016
NM_001206927.2(DNAH8):c.1192C>T (p.Arg398Cys) rs370751861 0.00016
NM_001206927.2(DNAH8):c.9167A>G (p.Tyr3056Cys) rs139564138 0.00016
NM_001277115.2(DNAH11):c.3646G>A (p.Glu1216Lys) rs201197846 0.00016
NM_001277115.2(DNAH11):c.8671C>T (p.Arg2891Trp) rs199574130 0.00016
NM_001277115.2(DNAH11):c.9925-3C>T rs774970534 0.00016
NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys) rs142193030 0.00016
NM_015896.4(ZMYND10):c.637C>T (p.His213Tyr) rs199711270 0.00016
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu) rs200448007 0.00016
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser) rs201064110 0.00016
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys) rs758247990 0.00016
NM_145038.5(DRC1):c.1186G>A (p.Glu396Lys) rs774466512 0.00016
NM_001206927.2(DNAH8):c.11726A>T (p.Tyr3909Phe) rs373142030 0.00015
NM_001206927.2(DNAH8):c.1952A>G (p.Asn651Ser) rs375668014 0.00015
NM_001206927.2(DNAH8):c.5872A>G (p.Thr1958Ala) rs150691309 0.00015
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys) rs369116839 0.00015
NM_001369.3(DNAH5):c.11570+5G>A rs771916783 0.00015
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr) rs138460682 0.00015
NM_017950.4(CCDC40):c.38C>T (p.Pro13Leu) rs541172966 0.00015
NM_021147.5(CCNO):c.62A>G (p.Asn21Ser) rs748757403 0.00015
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) rs144393177 0.00015
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser) rs760764943 0.00015
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00015
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) rs140079844 0.00014
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00014
NM_001206927.2(DNAH8):c.11851A>G (p.Thr3951Ala) rs140937135 0.00014
NM_001206927.2(DNAH8):c.2159A>T (p.Asp720Val) rs138373981 0.00014
NM_001364171.2(ODAD1):c.1771C>T (p.Arg591Cys) rs369825835 0.00014
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr) rs149139347 0.00014
NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser) rs377147369 0.00014
NM_017950.4(CCDC40):c.2159C>T (p.Thr720Met) rs201407989 0.00014
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) rs138489039 0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) rs199817659 0.00014
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) rs142671417 0.00014
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp) rs369294412 0.00014
NM_001190787.3(MCIDAS):c.301G>T (p.Ala101Ser) rs921264958 0.00013
NM_001206927.2(DNAH8):c.12052C>T (p.Arg4018Cys) rs577374411 0.00013
NM_001206927.2(DNAH8):c.4609C>T (p.Arg1537Cys) rs78877915 0.00013
NM_001206927.2(DNAH8):c.5171G>A (p.Gly1724Asp) rs45461493 0.00013
NM_001277115.2(DNAH11):c.1425+4T>C rs1034720999 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_018139.3(DNAAF2):c.2007+6G>A rs377255019 0.00013
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00013
NM_080860.4(RSPH1):c.430G>A (p.Gly144Arg) rs201489134 0.00013
NM_080860.4(RSPH1):c.817G>A (p.Val273Ile) rs374702500 0.00013
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu) rs757455850 0.00013
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln) rs140751779 0.00013
NM_181426.2(CCDC39):c.1229A>G (p.Gln410Arg) rs376852194 0.00013
NM_181426.2(CCDC39):c.2155T>C (p.Ser719Pro) rs561979601 0.00013
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu) rs200416428 0.00012
NM_001206927.2(DNAH8):c.436C>T (p.Pro146Ser) rs753060938 0.00012
NM_001206927.2(DNAH8):c.4513G>A (p.Val1505Ile) rs200202666 0.00012
NM_001206927.2(DNAH8):c.7384G>A (p.Val2462Ile) rs201809379 0.00012
NM_001206927.2(DNAH8):c.8046G>A (p.Met2682Ile) rs145365277 0.00012
NM_015896.4(ZMYND10):c.721G>A (p.Gly241Ser) rs200577542 0.00012
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_080860.4(RSPH1):c.653C>T (p.Ala218Val) rs373119665 0.00012
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr) rs368733987 0.00012
NM_001206927.2(DNAH8):c.12974G>A (p.Arg4325Gln) rs368532934 0.00011
NM_001206927.2(DNAH8):c.3538G>A (p.Ala1180Thr) rs201917454 0.00011
NM_001206927.2(DNAH8):c.5603T>G (p.Val1868Gly) rs201264105 0.00011
NM_001206927.2(DNAH8):c.6142A>G (p.Thr2048Ala) rs772890319 0.00011
NM_001206927.2(DNAH8):c.8801T>C (p.Val2934Ala) rs1031668402 0.00011
NM_001256715.2(DNAAF3):c.1210G>A (p.Gly404Arg) rs202084011 0.00011
NM_001277115.2(DNAH11):c.3648G>A (p.Glu1216=) rs202150841 0.00011
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His) rs752284064 0.00011
NM_001364171.2(ODAD1):c.1324C>T (p.Arg442Trp) rs138500585 0.00011
NM_001364171.2(ODAD1):c.1360C>T (p.Arg454Trp) rs199822195 0.00011
NM_001364171.2(ODAD1):c.1799G>C (p.Gly600Ala) rs200124335 0.00011
NM_001364171.2(ODAD1):c.379C>T (p.Arg127Trp) rs772057072 0.00011
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
NM_001369.3(DNAH5):c.6444+4T>C rs377638408 0.00011
NM_012144.4(DNAI1):c.175G>A (p.Asp59Asn) rs565990305 0.00011
NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp) rs150467144 0.00011
NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile) rs201258677 0.00011
NM_015896.4(ZMYND10):c.689G>A (p.Arg230Gln) rs146875767 0.00011
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile) rs572892623 0.00011
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His) rs572440259 0.00011
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile) rs200358267 0.00011
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val) rs146607878 0.00011
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val) rs150672056 0.00011
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) rs202027034 0.00011
NM_181426.2(CCDC39):c.455A>C (p.His152Pro) rs370141610 0.00011
NM_001034853.2(RPGR):c.1059+363G>A rs1410177435 0.00010
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val) rs368235489 0.00010
NM_001206927.2(DNAH8):c.10418C>G (p.Thr3473Ser) rs182442615 0.00010
NM_001206927.2(DNAH8):c.13904T>C (p.Met4635Thr) rs372017066 0.00010
NM_001206927.2(DNAH8):c.2960C>A (p.Ala987Asp) rs148508759 0.00010
NM_001206927.2(DNAH8):c.3731C>T (p.Ala1244Val) rs898719487 0.00010
NM_001206927.2(DNAH8):c.6328T>C (p.Ser2110Pro) rs201462063 0.00010
NM_001206927.2(DNAH8):c.7919C>T (p.Pro2640Leu) rs369613804 0.00010
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu) rs201978870 0.00010
NM_012144.4(DNAI1):c.48+3A>G rs771238788 0.00010
NM_017802.4(DNAAF5):c.1588G>A (p.Ala530Thr) rs200272840 0.00010
NM_017802.4(DNAAF5):c.436G>T (p.Val146Leu) rs745787736 0.00010
NM_017950.4(CCDC40):c.1843C>T (p.Arg615Cys) rs763700391 0.00010
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly) rs764707273 0.00010
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442 0.00010
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) rs201858385 0.00010
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln) rs182986650 0.00010
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln) rs139051164 0.00010
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp) rs371226659 0.00010
NM_080860.4(RSPH1):c.11T>G (p.Leu4Arg) rs144240955 0.00010
NM_080860.4(RSPH1):c.471C>G (p.His157Gln) rs61758127 0.00010
NM_145038.5(DRC1):c.1390C>T (p.Arg464Cys) rs377330459 0.00010
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys) rs368519003 0.00010
NM_181426.2(CCDC39):c.641G>A (p.Arg214His) rs368553676 0.00010
NM_181426.2(CCDC39):c.7A>G (p.Ser3Gly) rs757699907 0.00010
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) rs139677155 0.00009
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu) rs763051284 0.00009
NM_001206927.2(DNAH8):c.1082A>C (p.Glu361Ala) rs376791268 0.00009
NM_001206927.2(DNAH8):c.1163G>T (p.Gly388Val) rs141326848 0.00009
NM_001206927.2(DNAH8):c.12641C>T (p.Thr4214Met) rs750394180 0.00009
NM_001206927.2(DNAH8):c.13282G>C (p.Gly4428Arg) rs755556134 0.00009
NM_001206927.2(DNAH8):c.13790A>G (p.Asn4597Ser) rs774818998 0.00009
NM_001206927.2(DNAH8):c.13835G>T (p.Gly4612Val) rs371583300 0.00009
NM_001206927.2(DNAH8):c.13954T>C (p.Phe4652Leu) rs149938578 0.00009
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu) rs573755164 0.00009
NM_001206927.2(DNAH8):c.3392C>A (p.Thr1131Asn) rs145492929 0.00009
NM_001206927.2(DNAH8):c.3571C>G (p.Pro1191Ala) rs150925022 0.00009
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg) rs780541458 0.00009
NM_001206927.2(DNAH8):c.656T>C (p.Met219Thr) rs761327493 0.00009
NM_001206927.2(DNAH8):c.718C>T (p.Arg240Cys) rs145773185 0.00009
NM_001206927.2(DNAH8):c.7366T>G (p.Cys2456Gly) rs144169004 0.00009
NM_001277115.2(DNAH11):c.11498C>T (p.Ala3833Val) rs373626566 0.00009
NM_001364171.2(ODAD1):c.1157G>A (p.Arg386His) rs200697095 0.00009
NM_001364171.2(ODAD1):c.1187G>A (p.Arg396His) rs139618333 0.00009
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys) rs149354918 0.00009
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr) rs201978305 0.00009
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys) rs757393675 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_017802.4(DNAAF5):c.1031G>A (p.Arg344His) rs200002909 0.00009
NM_017802.4(DNAAF5):c.150G>T (p.Leu50Phe) rs1006499632 0.00009
NM_017802.4(DNAAF5):c.1547G>A (p.Ser516Asn) rs371695032 0.00009
NM_017802.4(DNAAF5):c.247C>T (p.Arg83Cys) rs1368397849 0.00009
NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val) rs900496106 0.00009
NM_017950.4(CCDC40):c.1146G>C (p.Glu382Asp) rs1263317319 0.00009
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg) rs201191082 0.00009
NM_023036.6(DNAI2):c.658G>A (p.Val220Met) rs376885226 0.00009
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile) rs767996853 0.00009
NM_080860.4(RSPH1):c.559C>T (p.Arg187Cys) rs150576105 0.00009
NM_145038.5(DRC1):c.1868A>G (p.Asn623Ser) rs573043964 0.00009
NM_145038.5(DRC1):c.617G>A (p.Arg206Gln) rs141540461 0.00009
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu) rs767204860 0.00009
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) rs201963508 0.00009
NM_213607.3(DNAAF19):c.355C>T (p.Arg119Cys) rs755188855 0.00009
NM_213607.3(DNAAF19):c.359A>G (p.Tyr120Cys) rs149858795 0.00009
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp) rs371882096 0.00008
NM_001206927.2(DNAH8):c.12697A>T (p.Asn4233Tyr) rs368787070 0.00008
NM_001206927.2(DNAH8):c.142T>C (p.Ser48Pro) rs776744908 0.00008
NM_001206927.2(DNAH8):c.2285C>T (p.Pro762Leu) rs199804814 0.00008
NM_001206927.2(DNAH8):c.3049G>A (p.Val1017Ile) rs112491228 0.00008
NM_001206927.2(DNAH8):c.3851C>T (p.Pro1284Leu) rs562900966 0.00008
NM_001206927.2(DNAH8):c.5224G>A (p.Asp1742Asn) rs199737918 0.00008
NM_001206927.2(DNAH8):c.7081G>T (p.Ala2361Ser) rs375336311 0.00008
NM_001206927.2(DNAH8):c.8976G>C (p.Gln2992His) rs575113985 0.00008
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met) rs199779645 0.00008
NM_001256715.2(DNAAF3):c.-81G>A rs201101258 0.00008
NM_001256715.2(DNAAF3):c.419T>C (p.Leu140Pro) rs747667670 0.00008
NM_001364171.2(ODAD1):c.200G>A (p.Arg67Gln) rs964846657 0.00008
NM_001364171.2(ODAD1):c.842G>A (p.Arg281His) rs149194036 0.00008
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_017802.4(DNAAF5):c.2452G>A (p.Gly818Arg) rs376897902 0.00008
NM_017802.4(DNAAF5):c.280G>A (p.Ala94Thr) rs1048255936 0.00008
NM_017802.4(DNAAF5):c.382C>T (p.Pro128Ser) rs998645747 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.28C>G (p.Arg10Gly) rs377599647 0.00008
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00008
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) rs369512832 0.00008
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln) rs763892619 0.00008
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly) rs367597118 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_018139.3(DNAAF2):c.416A>G (p.Tyr139Cys) rs761527467 0.00008
NM_018139.3(DNAAF2):c.847C>G (p.Leu283Val) rs201544590 0.00008
NM_021147.5(CCNO):c.845T>C (p.Leu282Pro) rs753791521 0.00008
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr) rs374043705 0.00008
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser) rs139714259 0.00008
NM_213607.3(DNAAF19):c.301A>G (p.Thr101Ala) rs924433215 0.00008
NM_001010892.3(RSPH4A):c.1970A>G (p.Tyr657Cys) rs1230428971 0.00007
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly) rs368369580 0.00007
NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu) rs1051677967 0.00007
NM_001206927.2(DNAH8):c.10903C>T (p.Arg3635Trp) rs149334389 0.00007
NM_001206927.2(DNAH8):c.11902G>A (p.Gly3968Ser) rs533107744 0.00007
NM_001206927.2(DNAH8):c.12416A>G (p.Asn4139Ser) rs775711015 0.00007
NM_001206927.2(DNAH8):c.13962T>G (p.Ile4654Met) rs200859037 0.00007
NM_001206927.2(DNAH8):c.1618G>T (p.Asp540Tyr) rs1207266323 0.00007
NM_001206927.2(DNAH8):c.3041G>A (p.Arg1014Gln) rs375687323 0.00007
NM_001206927.2(DNAH8):c.3130_3132del (p.Lys1044del) rs763247724 0.00007
NM_001206927.2(DNAH8):c.3289A>G (p.Ile1097Val) rs147941001 0.00007
NM_001206927.2(DNAH8):c.3481G>A (p.Val1161Met) rs201712851 0.00007
NM_001206927.2(DNAH8):c.551C>T (p.Ala184Val) rs368460226 0.00007
NM_001206927.2(DNAH8):c.8870G>A (p.Arg2957His) rs763438877 0.00007
NM_001206927.2(DNAH8):c.9368G>A (p.Arg3123Gln) rs146541069 0.00007
NM_001256715.2(DNAAF3):c.789+5G>A rs376485677 0.00007
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met) rs181603431 0.00007
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00007
NM_001364171.2(ODAD1):c.2047A>G (p.Arg683Gly) rs754221492 0.00007
NM_001364171.2(ODAD1):c.583C>T (p.Arg195Cys) rs377507314 0.00007
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys) rs141052175 0.00007
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile) rs191840487 0.00007
NM_017802.4(DNAAF5):c.1450A>G (p.Ile484Val) rs139727224 0.00007
NM_017802.4(DNAAF5):c.1996G>A (p.Ala666Thr) rs750935190 0.00007
NM_017802.4(DNAAF5):c.2425A>G (p.Ile809Val) rs563633198 0.00007
NM_017802.4(DNAAF5):c.2551G>A (p.Val851Met) rs201895277 0.00007
NM_017802.4(DNAAF5):c.412T>G (p.Cys138Gly) rs989778924 0.00007
NM_017802.4(DNAAF5):c.448G>C (p.Gly150Arg) rs1462634117 0.00007
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His) rs374875482 0.00007
NM_017802.4(DNAAF5):c.780+6T>A rs903588155 0.00007
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val) rs774090634 0.00007
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) rs202093340 0.00007
NM_017950.4(CCDC40):c.2068G>A (p.Ala690Thr) rs201907038 0.00007
NM_017950.4(CCDC40):c.2104G>A (p.Val702Met) rs748948064 0.00007
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr) rs780626544 0.00007
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=) rs370699646 0.00007
NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln) rs777882844 0.00007
NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu) rs749029870 0.00007
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln) rs758710603 0.00007
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740 0.00007
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) rs201521142 0.00007
NM_080860.4(RSPH1):c.128C>A (p.Thr43Asn) rs144221071 0.00007
NM_080860.4(RSPH1):c.151G>A (p.Gly51Ser) rs369657833 0.00007
NM_080860.4(RSPH1):c.310G>A (p.Val104Ile) rs373683028 0.00007
NM_080860.4(RSPH1):c.692C>T (p.Thr231Met) rs778123315 0.00007
NM_080860.4(RSPH1):c.785T>C (p.Met262Thr) rs139390401 0.00007
NM_145038.5(DRC1):c.1358C>G (p.Ser453Cys) rs780100027 0.00007
NM_145038.5(DRC1):c.1775C>T (p.Thr592Met) rs144885892 0.00007
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val) rs142105097 0.00007
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) rs201034372 0.00007
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00007
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) rs1169328891 0.00007
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg) rs773607269 0.00007
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) rs141807210 0.00006
NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr) rs530756069 0.00006
NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn) rs976414886 0.00006
NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu) rs752249790 0.00006
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val) rs367882990 0.00006
NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met) rs373914023 0.00006
NM_001206927.2(DNAH8):c.10817C>T (p.Thr3606Met) rs758157645 0.00006
NM_001206927.2(DNAH8):c.1716A>T (p.Glu572Asp) rs367805228 0.00006
NM_001206927.2(DNAH8):c.5542G>A (p.Val1848Ile) rs149016705 0.00006
NM_001206927.2(DNAH8):c.5845A>G (p.Ile1949Val) rs182835785 0.00006
NM_001206927.2(DNAH8):c.6460G>A (p.Val2154Ile) rs142694922 0.00006
NM_001206927.2(DNAH8):c.6565A>G (p.Met2189Val) rs757665480 0.00006
NM_001206927.2(DNAH8):c.7114A>G (p.Met2372Val) rs769036544 0.00006
NM_001206927.2(DNAH8):c.8752A>G (p.Ile2918Val) rs148193715 0.00006
NM_001206927.2(DNAH8):c.933A>T (p.Arg311Ser) rs200985360 0.00006
NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg) rs562819833 0.00006
NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys) rs770679152 0.00006
NM_001256715.2(DNAAF3):c.86-60A>C rs771361438 0.00006
NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met) rs549181425 0.00006
NM_001277115.2(DNAH11):c.13407_13415dup (p.Thr4472_Lys4473insGlnGluThr) rs748080467 0.00006
NM_001364171.2(ODAD1):c.1016A>G (p.Asn339Ser) rs145222993 0.00006
NM_001364171.2(ODAD1):c.1640C>T (p.Ala547Val) rs776156161 0.00006
NM_001364171.2(ODAD1):c.181C>T (p.Arg61Trp) rs767729076 0.00006
NM_001364171.2(ODAD1):c.265C>T (p.Arg89Trp) rs547720986 0.00006
NM_001364171.2(ODAD1):c.276C>G (p.Asn92Lys) rs753389945 0.00006
NM_001364171.2(ODAD1):c.298C>T (p.Arg100Trp) rs777461665 0.00006
NM_001369.3(DNAH5):c.2577+5T>C rs201596289 0.00006
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His) rs369931315 0.00006
NM_012144.4(DNAI1):c.2033C>T (p.Pro678Leu) rs759171136 0.00006
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) rs147909279 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp) rs201974671 0.00006
NM_015896.4(ZMYND10):c.485G>A (p.Gly162Glu) rs141261384 0.00006
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met) rs775542739 0.00006
NM_017802.4(DNAAF5):c.1598C>T (p.Thr533Ile) rs775678178 0.00006
NM_017802.4(DNAAF5):c.2003G>C (p.Arg668Thr) rs555500022 0.00006
NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys) rs779271163 0.00006
NM_017802.4(DNAAF5):c.49G>A (p.Glu17Lys) rs987496902 0.00006
NM_017802.4(DNAAF5):c.500C>G (p.Ala167Gly) rs1391723138 0.00006
NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro) rs377581183 0.00006
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly) rs1060501718 0.00006
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.1990-6A>G rs1055042616 0.00006
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) rs373717036 0.00006
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile) rs371890970 0.00006
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val) rs754858452 0.00006
NM_018139.3(DNAAF2):c.827C>G (p.Pro276Arg) rs562712293 0.00006
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) rs148885547 0.00006
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met) rs373090022 0.00006
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe) rs545425948 0.00006
NM_080860.4(RSPH1):c.150C>A (p.Phe50Leu) rs752263023 0.00006
NM_080860.4(RSPH1):c.713C>T (p.Ala238Val) rs201984262 0.00006
NM_145038.5(DRC1):c.1112C>T (p.Ser371Leu) rs368859380 0.00006
NM_145038.5(DRC1):c.1123C>T (p.Arg375Cys) rs145305515 0.00006
NM_145038.5(DRC1):c.1238T>C (p.Ile413Thr) rs551640350 0.00006
NM_145038.5(DRC1):c.749C>T (p.Ala250Val) rs138374268 0.00006
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile) rs147713380 0.00006
NM_152732.5(RSPH9):c.328G>A (p.Glu110Lys) rs150021750 0.00006
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys) rs950151051 0.00006
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) rs376164700 0.00006
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met) rs193152088 0.00006
NM_181426.2(CCDC39):c.2005C>A (p.Gln669Lys) rs751147958 0.00006
NM_213607.3(DNAAF19):c.619G>A (p.Val207Met) rs140977922 0.00006
NM_213607.3(DNAAF19):c.82C>T (p.Arg28Trp) rs144226204 0.00006
NC_000019.10:g.55166633C>G rs774308391 0.00005
NC_000023.11:g.38273484T>C rs375144983 0.00005
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) rs61738662 0.00005
NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn) rs545486771 0.00005
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) rs762313827 0.00005
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro) rs755128358 0.00005
NM_001034853.2(RPGR):c.1245+6A>G rs886038281 0.00005
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly) rs1364555173 0.00005
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg) rs1454586504 0.00005
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys) rs757712647 0.00005
NM_001034853.2(RPGR):c.971A>G (p.His324Arg) rs775245027 0.00005
NM_001206927.2(DNAH8):c.11106A>T (p.Glu3702Asp) rs113496494 0.00005
NM_001206927.2(DNAH8):c.11285G>A (p.Gly3762Asp) rs369468382 0.00005
NM_001206927.2(DNAH8):c.11419A>G (p.Asn3807Asp) rs368737192 0.00005
NM_001206927.2(DNAH8):c.12373A>G (p.Thr4125Ala) rs376760583 0.00005
NM_001206927.2(DNAH8):c.12958T>C (p.Ser4320Pro) rs765743748 0.00005
NM_001206927.2(DNAH8):c.13507A>T (p.Thr4503Ser) rs367599642 0.00005
NM_001206927.2(DNAH8):c.13553A>G (p.Tyr4518Cys) rs373389654 0.00005
NM_001206927.2(DNAH8):c.1417G>A (p.Ala473Thr) rs776772658 0.00005
NM_001206927.2(DNAH8):c.1681G>C (p.Glu561Gln) rs370590661 0.00005
NM_001206927.2(DNAH8):c.2062T>C (p.Cys688Arg) rs762629034 0.00005
NM_001206927.2(DNAH8):c.2259+6C>T rs769901901 0.00005
NM_001206927.2(DNAH8):c.2305C>T (p.Arg769Cys) rs533818443 0.00005
NM_001206927.2(DNAH8):c.2402A>G (p.Gln801Arg) rs746906348 0.00005
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His) rs776311330 0.00005
NM_001206927.2(DNAH8):c.3894G>A (p.Met1298Ile) rs571467371 0.00005
NM_001206927.2(DNAH8):c.5210G>A (p.Arg1737His) rs568480936 0.00005
NM_001206927.2(DNAH8):c.5880T>G (p.Asp1960Glu) rs774671297 0.00005
NM_001206927.2(DNAH8):c.6518G>T (p.Arg2173Leu) rs139579198 0.00005
NM_001206927.2(DNAH8):c.6778G>A (p.Glu2260Lys) rs1018899864 0.00005
NM_001206927.2(DNAH8):c.719G>A (p.Arg240His) rs188018051 0.00005
NM_001206927.2(DNAH8):c.732T>A (p.Asp244Glu) rs776721493 0.00005
NM_001206927.2(DNAH8):c.8390A>G (p.Asn2797Ser) rs781208495 0.00005
NM_001206927.2(DNAH8):c.8668A>G (p.Ile2890Val) rs373858239 0.00005
NM_001206927.2(DNAH8):c.890A>T (p.Gln297Leu) rs768764670 0.00005
NM_001206927.2(DNAH8):c.9041A>G (p.Asp3014Gly) rs200370466 0.00005
NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter) rs756412762 0.00005
NM_001256715.2(DNAAF3):c.387C>G (p.Phe129Leu) rs528126745 0.00005
NM_001277115.2(DNAH11):c.11098G>C (p.Glu3700Gln) rs768652615 0.00005
NM_001277115.2(DNAH11):c.12475G>C (p.Val4159Leu) rs771944678 0.00005
NM_001277115.2(DNAH11):c.8552C>G (p.Ala2851Gly) rs766265779 0.00005
NM_001364171.2(ODAD1):c.1079A>T (p.Glu360Val) rs759585116 0.00005
NM_001364171.2(ODAD1):c.1543A>G (p.Met515Val) rs149756874 0.00005
NM_001364171.2(ODAD1):c.1957G>A (p.Val653Met) rs780679601 0.00005
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met) rs137875815 0.00005
NM_001369.3(DNAH5):c.4867G>A (p.Glu1623Lys) rs147339019 0.00005
NM_001369.3(DNAH5):c.5198C>T (p.Ser1733Leu) rs146087064 0.00005
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg) rs534290750 0.00005
NM_001369.3(DNAH5):c.6590A>G (p.Asp2197Gly) rs766882502 0.00005
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala) rs375817990 0.00005
NM_001369.3(DNAH5):c.975+3C>A rs754023963 0.00005
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00005
NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu) rs376483151 0.00005
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu) rs755122846 0.00005
NM_015896.4(ZMYND10):c.1163C>T (p.Ala388Val) rs761329132 0.00005
NM_015896.4(ZMYND10):c.155T>G (p.Val52Gly) rs141884144 0.00005
NM_017802.4(DNAAF5):c.1247T>C (p.Val416Ala) rs762606868 0.00005
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr) rs201942359 0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val) rs147690117 0.00005
NM_017802.4(DNAAF5):c.179C>T (p.Pro60Leu) rs1238011792 0.00005
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00005
NM_017802.4(DNAAF5):c.2491G>A (p.Val831Ile) rs369761475 0.00005
NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg) rs968867319 0.00005
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser) rs372392201 0.00005
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys) rs376842482 0.00005
NM_017950.4(CCDC40):c.2842G>A (p.Gly948Arg) rs540350416 0.00005
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn) rs146119288 0.00005
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met) rs546314844 0.00005
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) rs369066468 0.00005
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His) rs371604414 0.00005
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu) rs531303883 0.00005
NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr) rs368195964 0.00005
NM_018139.3(DNAAF2):c.968C>G (p.Pro323Arg) rs750921798 0.00005
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr) rs553351741 0.00005
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg) rs373400250 0.00005
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00005
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met) rs374715330 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_080860.4(RSPH1):c.109C>T (p.Arg37Trp) rs142034904 0.00005
NM_080860.4(RSPH1):c.205G>A (p.Gly69Arg) rs368878819 0.00005
NM_080860.4(RSPH1):c.446C>T (p.Thr149Met) rs376829214 0.00005
NM_145038.5(DRC1):c.994G>C (p.Val332Leu) rs367682395 0.00005
NM_152732.5(RSPH9):c.281C>T (p.Ala94Val) rs142194323 0.00005
NM_152732.5(RSPH9):c.719G>A (p.Arg240His) rs143815397 0.00005
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu) rs557532640 0.00005
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe) rs148622974 0.00005
NM_178452.6(DNAAF1):c.260+3A>G rs375447481 0.00005
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys) rs574238677 0.00005
NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln) rs747905187 0.00005
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His) rs368439919 0.00005
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr) rs372308915 0.00005
NM_181426.2(CCDC39):c.2406+6G>A rs528695350 0.00005
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn) rs575350719 0.00005
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val) rs544311014 0.00005
NM_001010892.3(RSPH4A):c.1006C>T (p.Arg336Cys) rs746613781 0.00004
NM_001010892.3(RSPH4A):c.1193C>T (p.Ala398Val) rs576716296 0.00004
NM_001010892.3(RSPH4A):c.1333C>T (p.Pro445Ser) rs146636625 0.00004
NM_001010892.3(RSPH4A):c.1814C>A (p.Pro605His) rs775186734 0.00004
NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys) rs139499008 0.00004
NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val) rs377656819 0.00004
NM_001010892.3(RSPH4A):c.596G>T (p.Gly199Val) rs143264253 0.00004
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg) rs374555833 0.00004
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly) rs201131185 0.00004
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp) rs199691696 0.00004
NM_001206927.2(DNAH8):c.1016A>G (p.Lys339Arg) rs772095746 0.00004
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr) rs150057448 0.00004
NM_001206927.2(DNAH8):c.2083C>G (p.His695Asp) rs200737379 0.00004
NM_001206927.2(DNAH8):c.2290G>A (p.Gly764Ser) rs199536824 0.00004
NM_001206927.2(DNAH8):c.2716A>G (p.Thr906Ala) rs769310274 0.00004
NM_001206927.2(DNAH8):c.2743G>A (p.Glu915Lys) rs772099828 0.00004
NM_001206927.2(DNAH8):c.3126T>G (p.His1042Gln) rs190247264 0.00004
NM_001206927.2(DNAH8):c.3214C>T (p.Arg1072Trp) rs755566659 0.00004
NM_001206927.2(DNAH8):c.3404G>A (p.Ser1135Asn) rs763714234 0.00004
NM_001206927.2(DNAH8):c.3905G>A (p.Arg1302Gln) rs267601013 0.00004
NM_001206927.2(DNAH8):c.3956T>C (p.Ile1319Thr) rs201847227 0.00004
NM_001206927.2(DNAH8):c.4322A>G (p.Asn1441Ser) rs567162400 0.00004
NM_001206927.2(DNAH8):c.4996A>G (p.Thr1666Ala) rs769387808 0.00004
NM_001206927.2(DNAH8):c.5128G>A (p.Val1710Ile) rs756038605 0.00004
NM_001206927.2(DNAH8):c.5498A>G (p.Asn1833Ser) rs143128496 0.00004
NM_001206927.2(DNAH8):c.5666C>T (p.Ser1889Phe) rs781342164 0.00004
NM_001206927.2(DNAH8):c.5668G>A (p.Ala1890Thr) rs375461103 0.00004
NM_001206927.2(DNAH8):c.5789G>A (p.Arg1930His) rs758923038 0.00004
NM_001206927.2(DNAH8):c.582G>T (p.Leu194Phe) rs748063803 0.00004
NM_001206927.2(DNAH8):c.5834A>C (p.Lys1945Thr) rs549839617 0.00004
NM_001206927.2(DNAH8):c.6868G>A (p.Asp2290Asn) rs374774952 0.00004
NM_001206927.2(DNAH8):c.7918C>A (p.Pro2640Thr) rs575069902 0.00004
NM_001206927.2(DNAH8):c.8747+5G>A rs767171490 0.00004
NM_001206927.2(DNAH8):c.8852A>G (p.Tyr2951Cys) rs746640155 0.00004
NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu) rs200919669 0.00004
NM_001256715.2(DNAAF3):c.433G>A (p.Asp145Asn) rs1442451142 0.00004
NM_001256715.2(DNAAF3):c.640C>T (p.Arg214Cys) rs761550989 0.00004
NM_001256715.2(DNAAF3):c.743A>C (p.Tyr248Ser) rs756236772 0.00004
NM_001256715.2(DNAAF3):c.86-48A>G rs1483874945 0.00004
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala) rs775837121 0.00004
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His) rs775606157 0.00004
NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys) rs551275210 0.00004
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn) rs201757586 0.00004
NM_001364171.2(ODAD1):c.1397A>G (p.His466Arg) rs368172509 0.00004
NM_001364171.2(ODAD1):c.155G>A (p.Arg52His) rs746803038 0.00004
NM_001364171.2(ODAD1):c.1581+5G>A rs773996867 0.00004
NM_001364171.2(ODAD1):c.1786C>T (p.His596Tyr) rs779854692 0.00004
NM_001364171.2(ODAD1):c.199C>T (p.Arg67Trp) rs763939366 0.00004
NM_001364171.2(ODAD1):c.2116C>T (p.Arg706Trp) rs200369693 0.00004
NM_001364171.2(ODAD1):c.226G>A (p.Ala76Thr) rs376555574 0.00004
NM_001364171.2(ODAD1):c.584G>A (p.Arg195His) rs367890715 0.00004
NM_001364171.2(ODAD1):c.811C>T (p.Arg271Trp) rs141590182 0.00004
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp) rs143391709 0.00004
NM_001369.3(DNAH5):c.12490A>G (p.Thr4164Ala) rs753204839 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln) rs372291214 0.00004
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val) rs376871205 0.00004
NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr) rs1298235452 0.00004
NM_001369.3(DNAH5):c.6007G>A (p.Val2003Ile) rs776402895 0.00004
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser) rs1056525406 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu) rs377174043 0.00004
NM_012144.4(DNAI1):c.1719-3C>T rs1424934897 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_012144.4(DNAI1):c.371G>A (p.Arg124His) rs759257177 0.00004
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn) rs999905460 0.00004
NM_015896.4(ZMYND10):c.320T>C (p.Val107Ala) rs751659076 0.00004
NM_015896.4(ZMYND10):c.461G>A (p.Cys154Tyr) rs587704784 0.00004
NM_015896.4(ZMYND10):c.611G>A (p.Ser204Asn) rs201058230 0.00004
NM_015896.4(ZMYND10):c.692G>A (p.Arg231Gln) rs773115830 0.00004
NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg) rs774583071 0.00004
NM_015896.4(ZMYND10):c.862C>T (p.Arg288Trp) rs1245120737 0.00004
NM_015896.4(ZMYND10):c.877C>T (p.Arg293Trp) rs371047847 0.00004
NM_017802.4(DNAAF5):c.1057G>A (p.Val353Ile) rs761665711 0.00004
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met) rs558096583 0.00004
NM_017802.4(DNAAF5):c.1406A>G (p.Gln469Arg) rs750610445 0.00004
NM_017802.4(DNAAF5):c.1519G>A (p.Val507Met) rs978376503 0.00004
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr) rs534027051 0.00004
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met) rs200034358 0.00004
NM_017802.4(DNAAF5):c.2375G>A (p.Arg792Gln) rs772102523 0.00004
NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln) rs1443526471 0.00004
NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp) rs540763017 0.00004
NM_017950.4(CCDC40):c.1292G>A (p.Arg431Gln) rs766914160 0.00004
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478 0.00004
NM_017950.4(CCDC40):c.2377G>A (p.Glu793Lys) rs367812804 0.00004
NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly) rs751298635 0.00004
NM_017950.4(CCDC40):c.2619+5G>A rs184333269 0.00004
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His) rs369114517 0.00004
NM_017950.4(CCDC40):c.3180+6C>G rs753716586 0.00004
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln) rs771414681 0.00004
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln) rs572093892 0.00004
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys) rs372360189 0.00004
NM_018139.3(DNAAF2):c.1128C>G (p.Asp376Glu) rs764335344 0.00004
NM_018139.3(DNAAF2):c.122A>C (p.Glu41Ala) rs1452570914 0.00004
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp) rs1024449397 0.00004
NM_018139.3(DNAAF2):c.1442C>A (p.Ala481Glu) rs372054376 0.00004
NM_018139.3(DNAAF2):c.1465G>C (p.Asp489His) rs946095833 0.00004
NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu) rs758897357 0.00004
NM_018139.3(DNAAF2):c.2007+5G>A rs757313579 0.00004
NM_018139.3(DNAAF2):c.365C>T (p.Pro122Leu) rs958625302 0.00004
NM_018139.3(DNAAF2):c.682T>C (p.Tyr228His) rs751664496 0.00004
NM_021147.5(CCNO):c.851C>T (p.Ala284Val) rs1000287085 0.00004
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys) rs375896715 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr) rs192790912 0.00004
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp) rs138885031 0.00004
NM_080860.4(RSPH1):c.652G>A (p.Ala218Thr) rs375794854 0.00004
NM_080860.4(RSPH1):c.835C>T (p.Arg279Trp) rs373429437 0.00004
NM_145038.5(DRC1):c.1226C>T (p.Ala409Val) rs754270018 0.00004
NM_145038.5(DRC1):c.1391G>A (p.Arg464His) rs200271366 0.00004
NM_145038.5(DRC1):c.1599C>T (p.Ser533=) rs377416255 0.00004
NM_145038.5(DRC1):c.178G>A (p.Asp60Asn) rs927792575 0.00004
NM_145038.5(DRC1):c.237C>A (p.Ser79Arg) rs201097702 0.00004
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys) rs200193470 0.00004
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile) rs759644657 0.00004
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn) rs113845425 0.00004
NM_178452.6(DNAAF1):c.359A>T (p.Asp120Val) rs143005689 0.00004
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln) rs372777928 0.00004
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) rs764943936 0.00004
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln) rs751716129 0.00004
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 0.00004
NM_181426.2(CCDC39):c.1436C>T (p.Ala479Val) rs780264719 0.00004
NM_181426.2(CCDC39):c.1665+3G>A rs763769524 0.00004
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) rs371143749 0.00004
NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser) rs377454931 0.00004
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) rs745852520 0.00004
NM_181426.2(CCDC39):c.2670-14G>A rs1240386443 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_181426.2(CCDC39):c.626C>G (p.Ala209Gly) rs371857720 0.00004
NM_181426.2(CCDC39):c.816G>T (p.Glu272Asp) rs775659100 0.00004
NM_213607.3(DNAAF19):c.133G>A (p.Glu45Lys) rs748579846 0.00004
NM_213607.3(DNAAF19):c.197G>A (p.Gly66Glu) rs199961859 0.00004
NM_213607.3(DNAAF19):c.353A>C (p.Glu118Ala) rs758916687 0.00004
NM_213607.3(DNAAF19):c.470C>T (p.Pro157Leu) rs1159140845 0.00004
NM_213607.3(DNAAF19):c.485C>T (p.Ala162Val) rs146454626 0.00004
NC_000023.11:g.38276729A>G rs752091528 0.00003
NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys) rs368398120 0.00003
NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr) rs202102790 0.00003
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe) rs375014257 0.00003
NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys) rs1407084752 0.00003
NM_001190787.3(MCIDAS):c.165C>G (p.Ser55Arg) rs1031493457 0.00003
NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser) rs533613049 0.00003
NM_001206927.2(DNAH8):c.10409A>G (p.Asp3470Gly) rs772344943 0.00003
NM_001206927.2(DNAH8):c.10433A>G (p.Lys3478Arg) rs776011753 0.00003
NM_001206927.2(DNAH8):c.10437A>T (p.Lys3479Asn) rs377194021 0.00003
NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr) rs1023777490 0.00003
NM_001206927.2(DNAH8):c.106C>T (p.Pro36Ser) rs1178576726 0.00003
NM_001206927.2(DNAH8):c.10942A>G (p.Met3648Val) rs754232500 0.00003
NM_001206927.2(DNAH8):c.11367T>G (p.Ile3789Met) rs145133976 0.00003
NM_001206927.2(DNAH8):c.1196T>C (p.Met399Thr) rs374073806 0.00003
NM_001206927.2(DNAH8):c.12136C>T (p.Arg4046Cys) rs751189468 0.00003
NM_001206927.2(DNAH8):c.1301G>T (p.Arg434Leu) rs754133293 0.00003
NM_001206927.2(DNAH8):c.13030C>T (p.Arg4344Cys) rs761380037 0.00003
NM_001206927.2(DNAH8):c.14017C>T (p.Pro4673Ser) rs144993102 0.00003
NM_001206927.2(DNAH8):c.1414A>G (p.Met472Val) rs150780644 0.00003
NM_001206927.2(DNAH8):c.1983G>A (p.Met661Ile) rs769997917 0.00003
NM_001206927.2(DNAH8):c.2182A>G (p.Met728Val) rs746052496 0.00003
NM_001206927.2(DNAH8):c.2224T>C (p.Tyr742His) rs766094006 0.00003
NM_001206927.2(DNAH8):c.2837C>A (p.Thr946Asn) rs767272246 0.00003
NM_001206927.2(DNAH8):c.3128A>T (p.Asp1043Val) rs546536222 0.00003
NM_001206927.2(DNAH8):c.3299T>C (p.Ile1100Thr) rs764655921 0.00003
NM_001206927.2(DNAH8):c.3804G>T (p.Glu1268Asp) rs773699478 0.00003
NM_001206927.2(DNAH8):c.4846G>T (p.Asp1616Tyr) rs528250155 0.00003
NM_001206927.2(DNAH8):c.4982C>T (p.Ser1661Leu) rs1293165543 0.00003
NM_001206927.2(DNAH8):c.5038A>G (p.Ser1680Gly) rs541531465 0.00003
NM_001206927.2(DNAH8):c.5530C>T (p.Arg1844Cys) rs747954312 0.00003
NM_001206927.2(DNAH8):c.6035A>G (p.Asp2012Gly) rs762397682 0.00003
NM_001206927.2(DNAH8):c.6256G>A (p.Val2086Met) rs748005521 0.00003
NM_001206927.2(DNAH8):c.6334G>A (p.Gly2112Ser) rs146299075 0.00003
NM_001206927.2(DNAH8):c.6772G>A (p.Asp2258Asn) rs552357174 0.00003
NM_001206927.2(DNAH8):c.6788T>C (p.Ile2263Thr) rs773895088 0.00003
NM_001206927.2(DNAH8):c.682C>T (p.Pro228Ser) rs199848059 0.00003
NM_001206927.2(DNAH8):c.6931C>T (p.His2311Tyr) rs370226425 0.00003
NM_001206927.2(DNAH8):c.7015C>T (p.His2339Tyr) rs373404092 0.00003
NM_001206927.2(DNAH8):c.7802C>T (p.Pro2601Leu) rs149015796 0.00003
NM_001206927.2(DNAH8):c.8177C>T (p.Thr2726Ile) rs142939612 0.00003
NM_001206927.2(DNAH8):c.8353C>T (p.Leu2785Phe) rs151260543 0.00003
NM_001206927.2(DNAH8):c.8686G>A (p.Ala2896Thr) rs752786346 0.00003
NM_001206927.2(DNAH8):c.8792C>G (p.Thr2931Ser) rs372046397 0.00003
NM_001206927.2(DNAH8):c.8940G>A (p.Leu2980=) rs373096913 0.00003
NM_001206927.2(DNAH8):c.8942T>C (p.Met2981Thr) rs539475448 0.00003
NM_001206927.2(DNAH8):c.9223G>A (p.Asp3075Asn) rs773209277 0.00003
NM_001206927.2(DNAH8):c.9589C>T (p.Arg3197Cys) rs375494581 0.00003
NM_001206927.2(DNAH8):c.9745C>T (p.Arg3249Cys) rs557128576 0.00003
NM_001256715.2(DNAAF3):c.-72T>G rs760790026 0.00003
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile) rs774136369 0.00003
NM_001256715.2(DNAAF3):c.1132G>A (p.Gly378Ser) rs200611170 0.00003
NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro) rs768592462 0.00003
NM_001256715.2(DNAAF3):c.271A>G (p.Met91Val) rs1181045345 0.00003
NM_001256715.2(DNAAF3):c.301C>T (p.Pro101Ser) rs745672775 0.00003
NM_001256715.2(DNAAF3):c.72C>A (p.Asp24Glu) rs200866175 0.00003
NM_001256715.2(DNAAF3):c.929C>G (p.Thr310Ser) rs781136508 0.00003
NM_001256715.2(DNAAF3):c.944C>T (p.Thr315Met) rs758103289 0.00003
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys) rs755743542 0.00003
NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del) rs552487543 0.00003
NM_001277115.2(DNAH11):c.1814T>C (p.Val605Ala) rs1474507652 0.00003
NM_001277115.2(DNAH11):c.2459C>T (p.Thr820Met) rs561381811 0.00003
NM_001277115.2(DNAH11):c.496A>G (p.Ile166Val) rs188162506 0.00003
NM_001277115.2(DNAH11):c.6087C>G (p.Ile2029Met) rs1434998550 0.00003
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=) rs761918179 0.00003
NM_001277115.2(DNAH11):c.8258A>G (p.Lys2753Arg) rs761852954 0.00003
NM_001277115.2(DNAH11):c.8317G>T (p.Gly2773Cys) rs569296562 0.00003
NM_001364171.2(ODAD1):c.1581+4A>G rs759409470 0.00003
NM_001364171.2(ODAD1):c.1994G>C (p.Gly665Ala) rs750920206 0.00003
NM_001364171.2(ODAD1):c.205G>A (p.Asp69Asn) rs1342144946 0.00003
NM_001364171.2(ODAD1):c.254G>A (p.Arg85Gln) rs1186646725 0.00003
NM_001364171.2(ODAD1):c.425T>C (p.Leu142Pro) rs146960725 0.00003
NM_001364171.2(ODAD1):c.661G>A (p.Val221Ile) rs769301117 0.00003
NM_001364171.2(ODAD1):c.812G>A (p.Arg271Gln) rs776898770 0.00003
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.1089C>T (p.Pro363=) rs763797137 0.00003
NM_001369.3(DNAH5):c.11228G>T (p.Arg3743Ile) rs774599183 0.00003
NM_001369.3(DNAH5):c.11357G>A (p.Ser3786Asn) rs777928542 0.00003
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp) rs746375013 0.00003
NM_001369.3(DNAH5):c.12374C>T (p.Ala4125Val) rs370757783 0.00003
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn) rs768917457 0.00003
NM_001369.3(DNAH5):c.13123G>A (p.Glu4375Lys) rs955768429 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys) rs771613197 0.00003
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn) rs762874180 0.00003
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr) rs1413135619 0.00003
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn) rs1180383607 0.00003
NM_001369.3(DNAH5):c.2723A>G (p.Asn908Ser) rs146576780 0.00003
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser) rs964181737 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.4355+5G>A rs774366812 0.00003
NM_001369.3(DNAH5):c.4384G>T (p.Asp1462Tyr) rs1189846120 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.7407+4A>C rs1313931851 0.00003
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val) rs113576049 0.00003
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882 0.00003
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00003
NM_001369.3(DNAH5):c.8647+5A>C rs748450478 0.00003
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn) rs1038976235 0.00003
NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn) rs771279662 0.00003
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu) rs149452082 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile) rs565923150 0.00003
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109 0.00003
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys) rs372818966 0.00003
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn) rs752354598 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu) rs143015286 0.00003
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu) rs527254975 0.00003
NM_015896.4(ZMYND10):c.1177C>T (p.Arg393Cys) rs587740488 0.00003
NM_015896.4(ZMYND10):c.601C>T (p.Leu201Phe) rs770913452 0.00003
NM_015896.4(ZMYND10):c.622C>T (p.Arg208Cys) rs769848204 0.00003
NM_015896.4(ZMYND10):c.691C>T (p.Arg231Trp) rs762889922 0.00003
NM_015896.4(ZMYND10):c.724A>G (p.Ser242Gly) rs761674579 0.00003
NM_015896.4(ZMYND10):c.832C>T (p.Arg278Cys) rs372975420 0.00003
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys) rs773921234 0.00003
NM_017802.4(DNAAF5):c.1177C>T (p.His393Tyr) rs768907625 0.00003
NM_017802.4(DNAAF5):c.1207C>T (p.Arg403Trp) rs372413434 0.00003
NM_017802.4(DNAAF5):c.1564G>A (p.Val522Met) rs573265374 0.00003
NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser) rs747552520 0.00003
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu) rs755871359 0.00003
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val) rs759671132 0.00003
NM_017802.4(DNAAF5):c.2252G>A (p.Arg751His) rs145339697 0.00003
NM_017802.4(DNAAF5):c.22G>C (p.Glu8Gln) rs1337745093 0.00003
NM_017802.4(DNAAF5):c.2324A>G (p.Lys775Arg) rs574013110 0.00003
NM_017802.4(DNAAF5):c.238C>T (p.Arg80Cys) rs928452266 0.00003
NM_017802.4(DNAAF5):c.2451C>A (p.Ser817Arg) rs142621969 0.00003
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met) rs370267615 0.00003
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg) rs778572911 0.00003
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys) rs573323543 0.00003
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn) rs377484770 0.00003
NM_017950.4(CCDC40):c.1415G>A (p.Arg472Gln) rs780647441 0.00003
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326 0.00003
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly) rs375662034 0.00003
NM_017950.4(CCDC40):c.1670G>A (p.Arg557Gln) rs200236937 0.00003
NM_017950.4(CCDC40):c.2299G>A (p.Asp767Asn) rs373560340 0.00003
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp) rs774273644 0.00003
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393 0.00003
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro) rs1160715602 0.00003
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser) rs373525552 0.00003
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp) rs775749296 0.00003
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys) rs761769193 0.00003
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met) rs201104817 0.00003
NM_017950.4(CCDC40):c.3016C>T (p.Arg1006Cys) rs553354727 0.00003
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys) rs766993149 0.00003
NM_017950.4(CCDC40):c.3337C>T (p.Arg1113Cys) rs201250105 0.00003
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys) rs774630271 0.00003
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00003
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr) rs567790726 0.00003
NM_017950.4(CCDC40):c.910G>A (p.Glu304Lys) rs757404529 0.00003
NM_018139.3(DNAAF2):c.1102G>A (p.Glu368Lys) rs1165233490 0.00003
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg) rs886050527 0.00003
NM_018139.3(DNAAF2):c.1234G>T (p.Val412Phe) rs779297300 0.00003
NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile) rs147299791 0.00003
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met) rs185361306 0.00003
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala) rs931555570 0.00003
NM_018139.3(DNAAF2):c.377C>T (p.Ala126Val) rs771603303 0.00003
NM_018139.3(DNAAF2):c.424T>C (p.Tyr142His) rs541765275 0.00003
NM_018139.3(DNAAF2):c.648G>C (p.Glu216Asp) rs755099616 0.00003
NM_021147.5(CCNO):c.1040C>T (p.Pro347Leu) rs547968661 0.00003
NM_021147.5(CCNO):c.16C>A (p.Pro6Thr) rs1299342018 0.00003
NM_021147.5(CCNO):c.254G>C (p.Gly85Ala) rs866215946 0.00003
NM_021147.5(CCNO):c.787C>T (p.Arg263Trp) rs771099683 0.00003
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu) rs1241205365 0.00003
NM_023036.6(DNAI2):c.1348-14G>A rs374828965 0.00003
NM_023036.6(DNAI2):c.1348-3T>C rs536410188 0.00003
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp) rs1305647043 0.00003
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp) rs377582813 0.00003
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp) rs1162719665 0.00003
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly) rs753284790 0.00003
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) rs761171314 0.00003
NM_023036.6(DNAI2):c.864+4C>T rs773061334 0.00003
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys) rs144328249 0.00003
NM_080860.4(RSPH1):c.119A>G (p.Asn40Ser) rs751918978 0.00003
NM_080860.4(RSPH1):c.326A>G (p.Asn109Ser) rs559461972 0.00003
NM_080860.4(RSPH1):c.57A>T (p.Glu19Asp) rs200861411 0.00003
NM_080860.4(RSPH1):c.635C>T (p.Thr212Ile) rs771875847 0.00003
NM_080860.4(RSPH1):c.674C>T (p.Pro225Leu) rs201100138 0.00003
NM_080860.4(RSPH1):c.860G>A (p.Arg287His) rs868793685 0.00003
NM_130810.4(DNAAF4):c.123G>A (p.Lys41=) rs201530487 0.00003
NM_145038.5(DRC1):c.1246G>A (p.Ala416Thr) rs779720693 0.00003
NM_145038.5(DRC1):c.1264A>G (p.Ile422Val) rs369445461 0.00003
NM_145038.5(DRC1):c.1560G>C (p.Gln520His) rs1251505912 0.00003
NM_145038.5(DRC1):c.1585G>A (p.Asp529Asn) rs201581530 0.00003
NM_145038.5(DRC1):c.1647C>G (p.Phe549Leu) rs371052653 0.00003
NM_145038.5(DRC1):c.2029T>C (p.Trp677Arg) rs765669218 0.00003
NM_145038.5(DRC1):c.2206C>T (p.Arg736Trp) rs373441736 0.00003
NM_145038.5(DRC1):c.926A>G (p.Tyr309Cys) rs1395219877 0.00003
NM_152732.5(RSPH9):c.718C>T (p.Arg240Cys) rs756423549 0.00003
NM_152732.5(RSPH9):c.787G>A (p.Val263Met) rs772227123 0.00003
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp) rs757727188 0.00003
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg) rs749541341 0.00003
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) rs1024875120 0.00003
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln) rs752285725 0.00003
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr) rs373640751 0.00003
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr) rs769986363 0.00003
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser) rs552601600 0.00003
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met) rs375812500 0.00003
NM_181426.2(CCDC39):c.1528-3C>T rs1319606277 0.00003
NM_181426.2(CCDC39):c.1606C>A (p.Leu536Ile) rs532100779 0.00003
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His) rs876657752 0.00003
NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met) rs747000468 0.00003
NM_181426.2(CCDC39):c.2406+5C>T rs777030873 0.00003
NM_181426.2(CCDC39):c.245G>A (p.Ser82Asn) rs776886552 0.00003
NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu) rs760435440 0.00003
NM_181426.2(CCDC39):c.52C>T (p.Pro18Ser) rs374101424 0.00003
NM_181426.2(CCDC39):c.609+3T>C rs761548484 0.00003
NM_181426.2(CCDC39):c.795G>T (p.Lys265Asn) rs761112741 0.00003
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu) rs752180569 0.00003
NM_213607.3(DNAAF19):c.302C>T (p.Thr101Met) rs764426959 0.00003
NM_213607.3(DNAAF19):c.445G>A (p.Val149Met) rs746981376 0.00003
NM_213607.3(DNAAF19):c.710A>G (p.Glu237Gly) rs759937836 0.00003
NM_000328.3(RPGR):c.2241+5G>A rs1264379650 0.00002
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His) rs141217974 0.00002
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser) rs766529254 0.00002
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val) rs771315690 0.00002
NM_001010892.3(RSPH4A):c.1877C>G (p.Ser626Cys) rs920198802 0.00002
NM_001010892.3(RSPH4A):c.1928A>T (p.Asn643Ile) rs779796065 0.00002
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) rs769766758 0.00002
NM_001010892.3(RSPH4A):c.1976C>A (p.Pro659His) rs372634959 0.00002
NM_001010892.3(RSPH4A):c.2127A>C (p.Glu709Asp) rs1215996303 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser) rs767490154 0.00002
NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile) rs758078631 0.00002
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser) rs1027214389 0.00002
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln) rs771830247 0.00002
NM_001034853.2(RPGR):c.1309C>T (p.Leu437Phe) rs531930581 0.00002
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg) rs2067198830 0.00002
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly) rs1349839521 0.00002
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys) rs1321272383 0.00002
NM_001034853.2(RPGR):c.29-3C>T rs907567103 0.00002
NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly) rs1164360013 0.00002
NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val) rs1049625142 0.00002
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu) rs143975950 0.00002
NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg) rs749648072 0.00002
NM_001034853.2(RPGR):c.38C>T (p.Ala13Val) rs1435213397 0.00002
NM_001034853.2(RPGR):c.620-4A>G rs1465627964 0.00002
NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu) rs773408909 0.00002
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg) rs771616566 0.00002
NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr) rs113717721 0.00002
NM_001206927.2(DNAH8):c.1007A>C (p.Asn336Thr) rs111566149 0.00002
NM_001206927.2(DNAH8):c.10363A>G (p.Ile3455Val) rs774568425 0.00002
NM_001206927.2(DNAH8):c.10549C>T (p.Arg3517Trp) rs368736066 0.00002
NM_001206927.2(DNAH8):c.10672A>G (p.Asn3558Asp) rs746067892 0.00002
NM_001206927.2(DNAH8):c.11203C>T (p.His3735Tyr) rs1215135195 0.00002
NM_001206927.2(DNAH8):c.1133A>G (p.Glu378Gly) rs552179604 0.00002
NM_001206927.2(DNAH8):c.11378C>T (p.Thr3793Met) rs370303492 0.00002
NM_001206927.2(DNAH8):c.11404A>G (p.Met3802Val) rs940339061 0.00002
NM_001206927.2(DNAH8):c.11510G>A (p.Arg3837Gln) rs779195376 0.00002
NM_001206927.2(DNAH8):c.11519A>G (p.Lys3840Arg) rs759193789 0.00002
NM_001206927.2(DNAH8):c.11531A>T (p.Asp3844Val) rs760781678 0.00002
NM_001206927.2(DNAH8):c.11702C>T (p.Ala3901Val) rs749482996 0.00002
NM_001206927.2(DNAH8):c.11758A>T (p.Ile3920Phe) rs1184825620 0.00002
NM_001206927.2(DNAH8):c.11818T>C (p.Ser3940Pro) rs752843257 0.00002
NM_001206927.2(DNAH8):c.119A>G (p.Glu40Gly) rs777064945 0.00002
NM_001206927.2(DNAH8):c.12247A>G (p.Arg4083Gly) rs771014094 0.00002
NM_001206927.2(DNAH8):c.12596T>C (p.Ile4199Thr) rs766816061 0.00002
NM_001206927.2(DNAH8):c.1277A>C (p.His426Pro) rs757379846 0.00002
NM_001206927.2(DNAH8):c.12794C>T (p.Pro4265Leu) rs371913220 0.00002
NM_001206927.2(DNAH8):c.12973C>T (p.Arg4325Trp) rs201329381 0.00002
NM_001206927.2(DNAH8):c.13219C>G (p.Gln4407Glu) rs1765981830 0.00002
NM_001206927.2(DNAH8):c.13402C>T (p.Leu4468Phe) rs200138700 0.00002
NM_001206927.2(DNAH8):c.13427G>A (p.Arg4476Lys) rs762630419 0.00002
NM_001206927.2(DNAH8):c.13499T>C (p.Ile4500Thr) rs564074826 0.00002
NM_001206927.2(DNAH8):c.13541T>C (p.Leu4514Pro) rs745689526 0.00002
NM_001206927.2(DNAH8):c.1356A>T (p.Arg452Ser) rs943639840 0.00002
NM_001206927.2(DNAH8):c.13784T>C (p.Ile4595Thr) rs199891264 0.00002
NM_001206927.2(DNAH8):c.13888C>T (p.Arg4630Trp) rs368133429 0.00002
NM_001206927.2(DNAH8):c.13894G>A (p.Gly4632Arg) rs1338709868 0.00002
NM_001206927.2(DNAH8):c.2177G>A (p.Arg726His) rs747524974 0.00002
NM_001206927.2(DNAH8):c.2185C>G (p.Pro729Ala) rs866179461 0.00002
NM_001206927.2(DNAH8):c.2191A>G (p.Ile731Val) rs368357323 0.00002
NM_001206927.2(DNAH8):c.2434G>A (p.Gly812Arg) rs888196252 0.00002
NM_001206927.2(DNAH8):c.2480G>A (p.Arg827Gln) rs765369792 0.00002
NM_001206927.2(DNAH8):c.2818C>A (p.Leu940Met) rs200401493 0.00002
NM_001206927.2(DNAH8):c.3014G>A (p.Gly1005Glu) rs1376949943 0.00002
NM_001206927.2(DNAH8):c.3530T>C (p.Phe1177Ser) rs372754063 0.00002
NM_001206927.2(DNAH8):c.3818T>C (p.Ile1273Thr) rs375776680 0.00002
NM_001206927.2(DNAH8):c.4065G>C (p.Met1355Ile) rs779036783 0.00002
NM_001206927.2(DNAH8):c.4403A>G (p.Tyr1468Cys) rs766707073 0.00002
NM_001206927.2(DNAH8):c.4721T>C (p.Met1574Thr) rs775436333 0.00002
NM_001206927.2(DNAH8):c.4957G>A (p.Glu1653Lys) rs765334148 0.00002
NM_001206927.2(DNAH8):c.5061T>A (p.Phe1687Leu) rs754448491 0.00002
NM_001206927.2(DNAH8):c.5125C>T (p.Leu1709Phe) rs767897929 0.00002
NM_001206927.2(DNAH8):c.5569G>A (p.Val1857Ile) rs769383206 0.00002
NM_001206927.2(DNAH8):c.5584G>T (p.Val1862Phe) rs748486865 0.00002
NM_001206927.2(DNAH8):c.6517C>T (p.Arg2173Cys) rs773222614 0.00002
NM_001206927.2(DNAH8):c.6537C>A (p.Asn2179Lys) rs373289918 0.00002
NM_001206927.2(DNAH8):c.6754A>C (p.Lys2252Gln) rs1320995212 0.00002
NM_001206927.2(DNAH8):c.6833A>G (p.Asp2278Gly) rs777130552 0.00002
NM_001206927.2(DNAH8):c.6896G>A (p.Ser2299Asn) rs1269105628 0.00002
NM_001206927.2(DNAH8):c.7012C>T (p.Arg2338Trp) rs148367783 0.00002
NM_001206927.2(DNAH8):c.7580A>G (p.Asn2527Ser) rs769151939 0.00002
NM_001206927.2(DNAH8):c.787G>A (p.Ala263Thr) rs1411109414 0.00002
NM_001206927.2(DNAH8):c.8320C>T (p.Pro2774Ser) rs144296783 0.00002
NM_001206927.2(DNAH8):c.9392A>G (p.Gln3131Arg) rs1763034118 0.00002
NM_001206927.2(DNAH8):c.9529C>T (p.Arg3177Cys) rs768140806 0.00002
NM_001206927.2(DNAH8):c.9619G>A (p.Ala3207Thr) rs1221318001 0.00002
NM_001206927.2(DNAH8):c.9820G>C (p.Val3274Leu) rs767192586 0.00002
NM_001206927.2(DNAH8):c.9890C>G (p.Ser3297Cys) rs768565947 0.00002
NM_001256715.2(DNAAF3):c.1580C>A (p.Ala527Asp) rs1160280127 0.00002
NM_001256715.2(DNAAF3):c.34G>C (p.Gly12Arg) rs759585776 0.00002
NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser) rs1018709493 0.00002
NM_001256715.2(DNAAF3):c.578G>A (p.Arg193His) rs983176695 0.00002
NM_001256715.2(DNAAF3):c.847G>A (p.Val283Met) rs1039202842 0.00002
NM_001277115.2(DNAH11):c.12750+6G>A rs781697241 0.00002
NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys) rs1467862243 0.00002
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys) rs191791959 0.00002
NM_001277115.2(DNAH11):c.185T>C (p.Leu62Pro) rs969842140 0.00002
NM_001277115.2(DNAH11):c.1974-3C>T rs761630483 0.00002
NM_001277115.2(DNAH11):c.2169G>C (p.Lys723Asn) rs1342718835 0.00002
NM_001277115.2(DNAH11):c.4670G>A (p.Arg1557Gln) rs1166407911 0.00002
NM_001277115.2(DNAH11):c.5644T>A (p.Ser1882Thr) rs779521671 0.00002
NM_001277115.2(DNAH11):c.5910A>C (p.Arg1970Ser) rs773165066 0.00002
NM_001277115.2(DNAH11):c.7329T>A (p.Phe2443Leu) rs533596107 0.00002
NM_001364171.2(ODAD1):c.1001A>G (p.Asn334Ser) rs963974142 0.00002
NM_001364171.2(ODAD1):c.1240+6C>T rs771135040 0.00002
NM_001364171.2(ODAD1):c.1325G>A (p.Arg442Gln) rs147082322 0.00002
NM_001364171.2(ODAD1):c.1547G>A (p.Ser516Asn) rs758487756 0.00002
NM_001364171.2(ODAD1):c.1612C>T (p.Arg538Cys) rs200598312 0.00002
NM_001364171.2(ODAD1):c.161A>G (p.Asn54Ser) rs968311018 0.00002
NM_001364171.2(ODAD1):c.1646T>C (p.Leu549Pro) rs867113107 0.00002
NM_001364171.2(ODAD1):c.1648G>T (p.Asp550Tyr) rs776093467 0.00002
NM_001364171.2(ODAD1):c.1876G>A (p.Gly626Ser) rs563321170 0.00002
NM_001364171.2(ODAD1):c.1906G>A (p.Val636Met) rs750861527 0.00002
NM_001364171.2(ODAD1):c.1921G>A (p.Val641Ile) rs774257310 0.00002
NM_001364171.2(ODAD1):c.1937A>T (p.Tyr646Phe) rs780723224 0.00002
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe) rs1165709485 0.00002
NM_001369.3(DNAH5):c.10982A>G (p.Asp3661Gly) rs1420575942 0.00002
NM_001369.3(DNAH5):c.11189G>C (p.Arg3730Thr) rs776021439 0.00002
NM_001369.3(DNAH5):c.11299C>T (p.Arg3767Cys) rs780369063 0.00002
NM_001369.3(DNAH5):c.11312C>T (p.Thr3771Ile) rs545183484 0.00002
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val) rs750831635 0.00002
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln) rs779624238 0.00002
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu) rs149892711 0.00002
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr) rs774876738 0.00002
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe) rs144234655 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr) rs767228474 0.00002
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu) rs371030180 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1463C>G (p.Thr488Arg) rs751526615 0.00002
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg) rs767525835 0.00002
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu) rs779509527 0.00002
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser) rs763972246 0.00002
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr) rs779510008 0.00002
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His) rs371703906 0.00002
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu) rs571999271 0.00002
NM_001369.3(DNAH5):c.5195C>T (p.Ala1732Val) rs1018336173 0.00002
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala) rs763742646 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg) rs776745317 0.00002
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met) rs148279547 0.00002
NM_001369.3(DNAH5):c.6416A>G (p.Lys2139Arg) rs151336435 0.00002
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys) rs779983997 0.00002
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile) rs1416012949 0.00002
NM_001369.3(DNAH5):c.7371G>C (p.Gln2457His) rs1561324970 0.00002
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu) rs1465026258 0.00002
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg) rs377481206 0.00002
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val) rs1272436086 0.00002
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu) rs770895790 0.00002
NM_001369.3(DNAH5):c.8647+6C>T rs200250503 0.00002
NM_001369.3(DNAH5):c.8897C>T (p.Thr2966Met) rs202021335 0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.9001A>G (p.Thr3001Ala) rs780283468 0.00002
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg) rs770665819 0.00002
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp) rs772880156 0.00002
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr) rs1242377984 0.00002
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00002
NM_012144.4(DNAI1):c.48+6G>C rs962155265 0.00002
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys) rs755853256 0.00002
NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys) rs760700286 0.00002
NM_015896.4(ZMYND10):c.428G>A (p.Arg143His) rs747944767 0.00002
NM_015896.4(ZMYND10):c.652C>G (p.Leu218Val) rs1192317553 0.00002
NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val) rs149071790 0.00002
NM_015896.4(ZMYND10):c.878G>A (p.Arg293Gln) rs763288032 0.00002
NM_017802.4(DNAAF5):c.1195G>A (p.Glu399Lys) rs752282523 0.00002
NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro) rs1314198845 0.00002
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn) rs748404959 0.00002
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys) rs1470477437 0.00002
NM_017802.4(DNAAF5):c.1600G>A (p.Gly534Ser) rs772828443 0.00002
NM_017802.4(DNAAF5):c.1705C>T (p.Arg569Trp) rs375829727 0.00002
NM_017802.4(DNAAF5):c.1739A>G (p.His580Arg) rs762336859 0.00002
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met) rs777468194 0.00002
NM_017802.4(DNAAF5):c.2507G>A (p.Arg836His) rs760802184 0.00002
NM_017802.4(DNAAF5):c.289G>A (p.Val97Met) rs1039028606 0.00002
NM_017802.4(DNAAF5):c.515G>A (p.Arg172His) rs1337262848 0.00002
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln) rs545123585 0.00002
NM_017802.4(DNAAF5):c.805G>A (p.Val269Met) rs775434599 0.00002
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln) rs773046353 0.00002
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met) rs370720427 0.00002
NM_017950.4(CCDC40):c.1409A>G (p.Asp470Gly) rs754833822 0.00002
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser) rs2143744575 0.00002
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys) rs780935628 0.00002
NM_017950.4(CCDC40):c.2192A>G (p.Asn731Ser) rs376612893 0.00002
NM_017950.4(CCDC40):c.229G>A (p.Val77Met) rs1211134541 0.00002
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val) rs749795585 0.00002
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys) rs374928230 0.00002
NM_017950.4(CCDC40):c.2652C>G (p.Asp884Glu) rs368398257 0.00002
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys) rs757374609 0.00002
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu) rs769458274 0.00002
NM_017950.4(CCDC40):c.553-3T>C rs779799024 0.00002
NM_017950.4(CCDC40):c.592A>G (p.Met198Val) rs774843139 0.00002
NM_017950.4(CCDC40):c.655G>A (p.Glu219Lys) rs1277342777 0.00002
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln) rs191632512 0.00002
NM_017950.4(CCDC40):c.929T>A (p.Leu310His) rs1209777694 0.00002
NM_017950.4(CCDC40):c.941T>C (p.Val314Ala) rs758488439 0.00002
NM_017950.4(CCDC40):c.950C>T (p.Thr317Ile) rs751751403 0.00002
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) rs114740534 0.00002
NM_018139.3(DNAAF2):c.1072G>A (p.Ala358Thr) rs1060503179 0.00002
NM_018139.3(DNAAF2):c.118G>T (p.Ala40Ser) rs765847926 0.00002
NM_018139.3(DNAAF2):c.1228T>C (p.Ser410Pro) rs746189091 0.00002
NM_018139.3(DNAAF2):c.1415C>T (p.Ser472Phe) rs760270240 0.00002
NM_018139.3(DNAAF2):c.1563G>T (p.Leu521Phe) rs1485202846 0.00002
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp) rs201615253 0.00002
NM_018139.3(DNAAF2):c.1891G>A (p.Val631Ile) rs183126428 0.00002
NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg) rs1287126715 0.00002
NM_018139.3(DNAAF2):c.374T>C (p.Leu125Pro) rs771875922 0.00002
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn) rs759580456 0.00002
NM_018139.3(DNAAF2):c.530G>C (p.Gly177Ala) rs372399039 0.00002
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu) rs763643131 0.00002
NM_018139.3(DNAAF2):c.788T>C (p.Val263Ala) rs564215636 0.00002
NM_018139.3(DNAAF2):c.937A>G (p.Lys313Glu) rs777195189 0.00002
NM_018139.3(DNAAF2):c.950G>A (p.Arg317Gln) rs374063062 0.00002
NM_021147.5(CCNO):c.265C>G (p.Pro89Ala) rs764171316 0.00002
NM_021147.5(CCNO):c.281A>G (p.Asp94Gly) rs892790252 0.00002
NM_021147.5(CCNO):c.301T>C (p.Tyr101His) rs769780049 0.00002
NM_021147.5(CCNO):c.785C>T (p.Ala262Val) rs150766906 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr) rs775110998 0.00002
NM_023036.6(DNAI2):c.1494+10G>A rs750207891 0.00002
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys) rs374710603 0.00002
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys) rs368063114 0.00002
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys) rs112650114 0.00002
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln) rs552610697 0.00002
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr) rs560319154 0.00002
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln) rs768312326 0.00002
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val) rs374277039 0.00002
NM_080860.4(RSPH1):c.295C>T (p.Arg99Trp) rs770359437 0.00002
NM_080860.4(RSPH1):c.325A>G (p.Asn109Asp) rs533343864 0.00002
NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr) rs781199496 0.00002
NM_080860.4(RSPH1):c.824G>A (p.Arg275Gln) rs376500424 0.00002
NM_145038.5(DRC1):c.14G>A (p.Gly5Glu) rs767420758 0.00002
NM_145038.5(DRC1):c.1639G>A (p.Val547Met) rs760306333 0.00002
NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys) rs779986198 0.00002
NM_145038.5(DRC1):c.1873G>A (p.Val625Ile) rs780099607 0.00002
NM_145038.5(DRC1):c.2044A>G (p.Thr682Ala) rs772128135 0.00002
NM_145038.5(DRC1):c.2126C>T (p.Thr709Ile) rs767091604 0.00002
NM_145038.5(DRC1):c.2207G>A (p.Arg736Gln) rs761603781 0.00002
NM_145038.5(DRC1):c.313G>A (p.Glu105Lys) rs759868480 0.00002
NM_145038.5(DRC1):c.463G>A (p.Glu155Lys) rs574881831 0.00002
NM_152732.5(RSPH9):c.249C>A (p.Ser83Arg) rs773953326 0.00002
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu) rs193069859 0.00002
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) rs1165621423 0.00002
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser) rs143490141 0.00002
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile) rs200046262 0.00002
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) rs372901697 0.00002
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val) rs761549054 0.00002
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu) rs149659582 0.00002
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys) rs376980896 0.00002
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) rs750513286 0.00002
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr) rs1433999083 0.00002
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly) rs757515577 0.00002
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr) rs951458613 0.00002
NM_181426.2(CCDC39):c.157A>C (p.Asn53His) rs778274253 0.00002
NM_181426.2(CCDC39):c.2431C>T (p.Arg811Cys) rs574993914 0.00002
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys) rs781020567 0.00002
NM_181426.2(CCDC39):c.2486G>A (p.Arg829His) rs528863074 0.00002
NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly) rs977401121 0.00002
NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser) rs750476985 0.00002
NM_181426.2(CCDC39):c.424G>A (p.Ala142Thr) rs754066480 0.00002
NM_213607.3(DNAAF19):c.181C>T (p.Arg61Trp) rs763938078 0.00002
NM_213607.3(DNAAF19):c.310G>C (p.Asp104His) rs750876442 0.00002
NM_213607.3(DNAAF19):c.478C>T (p.Arg160Trp) rs143476313 0.00002
NM_213607.3(DNAAF19):c.554G>A (p.Arg185Gln) rs182319938 0.00002
NC_000023.11:g.38269737G>C rs1342166642 0.00001
NC_000023.11:g.38273386C>T rs757598542 0.00001
NC_000023.11:g.38275121C>T rs758849023 0.00001
NC_000023.11:g.38276655C>T rs750741536 0.00001
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val) rs1172746559 0.00001
NM_000328.3(RPGR):c.2242A>G (p.Ile748Val) rs2066803160 0.00001
NM_001010892.3(RSPH4A):c.1061G>A (p.Arg354His) rs367712020 0.00001
NM_001010892.3(RSPH4A):c.1089A>C (p.Glu363Asp) rs758997589 0.00001
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) rs1379993014 0.00001
NM_001010892.3(RSPH4A):c.1120C>T (p.Arg374Cys) rs768193419 0.00001
NM_001010892.3(RSPH4A):c.1204G>A (p.Glu402Lys) rs945197853 0.00001
NM_001010892.3(RSPH4A):c.1241C>T (p.Pro414Leu) rs1394282681 0.00001
NM_001010892.3(RSPH4A):c.134C>T (p.Ala45Val) rs372113802 0.00001
NM_001010892.3(RSPH4A):c.1361T>C (p.Ile454Thr) rs752047678 0.00001
NM_001010892.3(RSPH4A):c.1379A>G (p.Lys460Arg) rs1436491672 0.00001
NM_001010892.3(RSPH4A):c.1394G>A (p.Arg465Gln) rs777456038 0.00001
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) rs753449428 0.00001
NM_001010892.3(RSPH4A):c.1531G>A (p.Glu511Lys) rs1221446542 0.00001
NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser) rs147813674 0.00001
NM_001010892.3(RSPH4A):c.1666C>T (p.Arg556Cys) rs777653223 0.00001
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys) rs1391501802 0.00001
NM_001010892.3(RSPH4A):c.1806G>T (p.Gln602His) rs1775775547 0.00001
NM_001010892.3(RSPH4A):c.1861A>G (p.Ile621Val) rs748272434 0.00001
NM_001010892.3(RSPH4A):c.1912G>A (p.Gly638Ser) rs370338820 0.00001
NM_001010892.3(RSPH4A):c.1917-3T>C rs757886950 0.00001
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys) rs746646378 0.00001
NM_001010892.3(RSPH4A):c.2017C>A (p.Pro673Thr) rs920942886 0.00001
NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met) rs1398453218 0.00001
NM_001010892.3(RSPH4A):c.2093T>G (p.Leu698Arg) rs780723973 0.00001
NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly) rs750605299 0.00001
NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln) rs1215954352 0.00001
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn) rs376372993 0.00001
NM_001010892.3(RSPH4A):c.730C>T (p.Arg244Cys) rs778774449 0.00001
NM_001010892.3(RSPH4A):c.803T>C (p.Phe268Ser) rs774797157 0.00001
NM_001010892.3(RSPH4A):c.916G>A (p.Glu306Lys) rs781463706 0.00001
NM_001010892.3(RSPH4A):c.922-11T>G rs758250404 0.00001
NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile) rs1450524623 0.00001
NM_001010892.3(RSPH4A):c.965T>C (p.Phe322Ser) rs1428425636 0.00001
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe) rs62638628 0.00001
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg) rs1175561018 0.00001
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His) rs746041459 0.00001
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=) rs1217157110 0.00001
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) rs794727019 0.00001
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val) rs1569240928 0.00001
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly) rs2088299654 0.00001
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro) rs2519808415 0.00001
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly) rs1163013962 0.00001
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly) rs772557101 0.00001
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala) rs757275147 0.00001
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala) rs2067220112 0.00001
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn) rs1159969109 0.00001
NM_001034853.2(RPGR):c.1754-7T>G rs200174242 0.00001
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr) rs1490761121 0.00001
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr) rs1418355872 0.00001
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu) rs1365914853 0.00001
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln) rs1168146969 0.00001
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp) rs763102799 0.00001
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys) rs1235791633 0.00001
NM_001034853.2(RPGR):c.392A>G (p.His131Arg) rs2067876912 0.00001
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser) rs150477878 0.00001
NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser) rs760123267 0.00001
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val) rs1251721610 0.00001
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser) rs779957555 0.00001
NM_001034853.2(RPGR):c.968G>A (p.Arg323His) rs2067497181 0.00001
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala) rs751775414 0.00001
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His) rs939457499 0.00001
NM_001190787.3(MCIDAS):c.14G>A (p.Gly5Glu) rs1438648674 0.00001
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile) rs896487065 0.00001
NM_001190787.3(MCIDAS):c.226A>G (p.Thr76Ala) rs998351403 0.00001
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg) rs1251186024 0.00001
NM_001190787.3(MCIDAS):c.277G>C (p.Ala93Pro) rs115971569 0.00001
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala) rs1439093107 0.00001
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly) rs1246951723 0.00001
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys) rs1031042671 0.00001
NM_001190787.3(MCIDAS):c.8C>A (p.Ala3Glu) rs1268527093 0.00001
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu) rs1745334815 0.00001
NM_001206927.2(DNAH8):c.10102G>C (p.Ala3368Pro) rs1287947453 0.00001
NM_001206927.2(DNAH8):c.10339C>T (p.Leu3447Phe) rs764099125 0.00001
NM_001206927.2(DNAH8):c.10550G>A (p.Arg3517Gln) rs779240075 0.00001
NM_001206927.2(DNAH8):c.10576G>A (p.Gly3526Arg) rs199853566 0.00001
NM_001206927.2(DNAH8):c.10837G>A (p.Gly3613Ser) rs1350933024 0.00001
NM_001206927.2(DNAH8):c.10961C>T (p.Thr3654Ile) rs899334468 0.00001
NM_001206927.2(DNAH8):c.1100A>G (p.Tyr367Cys) rs1414912825 0.00001
NM_001206927.2(DNAH8):c.11035G>A (p.Ala3679Thr) rs1035761681 0.00001
NM_001206927.2(DNAH8):c.11123C>T (p.Thr3708Ile) rs776651442 0.00001
NM_001206927.2(DNAH8):c.11176G>C (p.Gly3726Arg) rs373404358 0.00001
NM_001206927.2(DNAH8):c.11230A>G (p.Asn3744Asp) rs1213044875 0.00001
NM_001206927.2(DNAH8):c.11284G>A (p.Gly3762Ser) rs745615652 0.00001
NM_001206927.2(DNAH8):c.11311A>G (p.Thr3771Ala) rs768042230 0.00001
NM_001206927.2(DNAH8):c.11342C>T (p.Pro3781Leu) rs765589828 0.00001
NM_001206927.2(DNAH8):c.11398G>A (p.Val3800Ile) rs371600150 0.00001
NM_001206927.2(DNAH8):c.11429T>G (p.Leu3810Arg) rs909094330 0.00001
NM_001206927.2(DNAH8):c.11430_11432del (p.Arg3812del) rs771033562 0.00001
NM_001206927.2(DNAH8):c.11440A>G (p.Ile3814Val) rs2533558406 0.00001
NM_001206927.2(DNAH8):c.11471A>G (p.Glu3824Gly) rs765005496 0.00001
NM_001206927.2(DNAH8):c.11570T>G (p.Leu3857Trp) rs143043316 0.00001
NM_001206927.2(DNAH8):c.11581G>C (p.Glu3861Gln) rs1219964235 0.00001
NM_001206927.2(DNAH8):c.11645A>T (p.His3882Leu) rs1459344355 0.00001
NM_001206927.2(DNAH8):c.11735T>G (p.Ile3912Ser) rs767990512 0.00001
NM_001206927.2(DNAH8):c.11878G>A (p.Glu3960Lys) rs940769485 0.00001
NM_001206927.2(DNAH8):c.1193G>A (p.Arg398His) rs1051264232 0.00001
NM_001206927.2(DNAH8):c.11943G>A (p.Met3981Ile) rs376317347 0.00001
NM_001206927.2(DNAH8):c.11969G>A (p.Gly3990Glu) rs1265988328 0.00001
NM_001206927.2(DNAH8):c.12110T>C (p.Phe4037Ser) rs1391386376 0.00001
NM_001206927.2(DNAH8):c.12176C>T (p.Ala4059Val) rs780928277 0.00001
NM_001206927.2(DNAH8):c.12244A>G (p.Ile4082Val) rs760843520 0.00001
NM_001206927.2(DNAH8):c.12280G>A (p.Ala4094Thr) rs1340806081 0.00001
NM_001206927.2(DNAH8):c.12315G>T (p.Lys4105Asn) rs994663754 0.00001
NM_001206927.2(DNAH8):c.12376C>T (p.Pro4126Ser) rs1170406490 0.00001
NM_001206927.2(DNAH8):c.12469A>G (p.Met4157Val) rs1392416546 0.00001
NM_001206927.2(DNAH8):c.12497G>A (p.Arg4166Gln) rs770628767 0.00001
NM_001206927.2(DNAH8):c.12601A>G (p.Thr4201Ala) rs139379184 0.00001
NM_001206927.2(DNAH8):c.12618T>G (p.Asp4206Glu) rs752937674 0.00001
NM_001206927.2(DNAH8):c.12637A>G (p.Thr4213Ala) rs757129008 0.00001
NM_001206927.2(DNAH8):c.12701A>G (p.Glu4234Gly) rs370456053 0.00001
NM_001206927.2(DNAH8):c.12718C>T (p.Arg4240Cys) rs569195029 0.00001
NM_001206927.2(DNAH8):c.12739T>C (p.Phe4247Leu) rs1583486346 0.00001
NM_001206927.2(DNAH8):c.12760C>A (p.Leu4254Ile) rs753837313 0.00001
NM_001206927.2(DNAH8):c.12941A>T (p.Asp4314Val) rs1422712718 0.00001
NM_001206927.2(DNAH8):c.13007G>A (p.Arg4336Lys) rs372473768 0.00001
NM_001206927.2(DNAH8):c.13052G>A (p.Arg4351Lys) rs760440338 0.00001
NM_001206927.2(DNAH8):c.13289T>C (p.Val4430Ala) rs765911536 0.00001
NM_001206927.2(DNAH8):c.13305G>T (p.Glu4435Asp) rs181050326 0.00001
NM_001206927.2(DNAH8):c.1351G>A (p.Val451Ile) rs1765350054 0.00001
NM_001206927.2(DNAH8):c.13589C>G (p.Ser4530Cys) rs761515917 0.00001
NM_001206927.2(DNAH8):c.13655C>T (p.Thr4552Met) rs375993164 0.00001
NM_001206927.2(DNAH8):c.13691T>C (p.Met4564Thr) rs970547854 0.00001
NM_001206927.2(DNAH8):c.13859T>A (p.Leu4620His) rs1255052749 0.00001
NM_001206927.2(DNAH8):c.14021G>C (p.Arg4674Thr) rs774150212 0.00001
NM_001206927.2(DNAH8):c.1407+14T>C rs1206527569 0.00001
NM_001206927.2(DNAH8):c.1523A>G (p.Asn508Ser) rs1053193564 0.00001
NM_001206927.2(DNAH8):c.1702T>G (p.Phe568Val) rs1385917517 0.00001
NM_001206927.2(DNAH8):c.1767T>G (p.Ile589Met) rs752736988 0.00001
NM_001206927.2(DNAH8):c.184C>T (p.Arg62Trp) rs778505007 0.00001
NM_001206927.2(DNAH8):c.1891A>C (p.Ile631Leu) rs757558240 0.00001
NM_001206927.2(DNAH8):c.2033T>G (p.Leu678Arg) rs775047700 0.00001
NM_001206927.2(DNAH8):c.2039+6C>T rs750551337 0.00001
NM_001206927.2(DNAH8):c.2056A>C (p.Ile686Leu) rs376309134 0.00001
NM_001206927.2(DNAH8):c.2078T>C (p.Ile693Thr) rs1189384115 0.00001
NM_001206927.2(DNAH8):c.209G>A (p.Gly70Glu) rs770020515 0.00001
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met) rs758338554 0.00001
NM_001206927.2(DNAH8):c.2146C>A (p.His716Asn) rs1768569619 0.00001
NM_001206927.2(DNAH8):c.2227C>T (p.Arg743Cys) rs753499080 0.00001
NM_001206927.2(DNAH8):c.2230C>T (p.Arg744Trp) rs758774116 0.00001
NM_001206927.2(DNAH8):c.2231G>A (p.Arg744Gln) rs546652224 0.00001
NM_001206927.2(DNAH8):c.2420G>A (p.Arg807Gln) rs1325804996 0.00001
NM_001206927.2(DNAH8):c.2513A>G (p.Asp838Gly) rs777664096 0.00001
NM_001206927.2(DNAH8):c.2528C>A (p.Ala843Glu) rs774986794 0.00001
NM_001206927.2(DNAH8):c.2552G>A (p.Ser851Asn) rs1271804469 0.00001
NM_001206927.2(DNAH8):c.2582A>G (p.Gln861Arg) rs1769214990 0.00001
NM_001206927.2(DNAH8):c.2662A>G (p.Lys888Glu) rs1055070416 0.00001
NM_001206927.2(DNAH8):c.2681G>A (p.Arg894Lys) rs752232309 0.00001
NM_001206927.2(DNAH8):c.2690T>C (p.Leu897Pro) rs1197384412 0.00001
NM_001206927.2(DNAH8):c.2750T>C (p.Val917Ala) rs773425594 0.00001
NM_001206927.2(DNAH8):c.2756A>G (p.Asp919Gly) rs559075687 0.00001
NM_001206927.2(DNAH8):c.275C>T (p.Pro92Leu) rs757958716 0.00001
NM_001206927.2(DNAH8):c.2901G>A (p.Glu967=) rs762902639 0.00001
NM_001206927.2(DNAH8):c.2926A>G (p.Ile976Val) rs1770938827 0.00001
NM_001206927.2(DNAH8):c.3035-3T>C rs1771183616 0.00001
NM_001206927.2(DNAH8):c.3103A>G (p.Ile1035Val) rs1480696575 0.00001
NM_001206927.2(DNAH8):c.320G>A (p.Arg107Gln) rs765307487 0.00001
NM_001206927.2(DNAH8):c.3269G>A (p.Arg1090Gln) rs774576655 0.00001
NM_001206927.2(DNAH8):c.3293C>T (p.Ser1098Phe) rs553578959 0.00001
NM_001206927.2(DNAH8):c.3361C>A (p.Gln1121Lys) rs200670267 0.00001
NM_001206927.2(DNAH8):c.3370A>G (p.Ile1124Val) rs747236022 0.00001
NM_001206927.2(DNAH8):c.3413T>A (p.Val1138Glu) rs1554218874 0.00001
NM_001206927.2(DNAH8):c.3440G>A (p.Arg1147His) rs960637197 0.00001
NM_001206927.2(DNAH8):c.3466C>T (p.Pro1156Ser) rs1239419536 0.00001
NM_001206927.2(DNAH8):c.3561G>T (p.Lys1187Asn) rs763348835 0.00001
NM_001206927.2(DNAH8):c.3569A>C (p.Tyr1190Ser) rs764580800 0.00001
NM_001206927.2(DNAH8):c.3581C>T (p.Ala1194Val) rs1060501472 0.00001
NM_001206927.2(DNAH8):c.358C>T (p.Pro120Ser) rs759397600 0.00001
NM_001206927.2(DNAH8):c.3662T>G (p.Leu1221Arg) rs868651177 0.00001
NM_001206927.2(DNAH8):c.3772C>T (p.His1258Tyr) rs1258463187 0.00001
NM_001206927.2(DNAH8):c.37G>A (p.Gly13Arg) rs777885822 0.00001
NM_001206927.2(DNAH8):c.382G>A (p.Glu128Lys) rs763048415 0.00001
NM_001206927.2(DNAH8):c.3913A>G (p.Asn1305Asp) rs754563016 0.00001
NM_001206927.2(DNAH8):c.3984A>T (p.Arg1328Ser) rs749436834 0.00001
NM_001206927.2(DNAH8):c.4087G>T (p.Ala1363Ser) rs201887726 0.00001
NM_001206927.2(DNAH8):c.4133A>T (p.Glu1378Val) rs777914000 0.00001
NM_001206927.2(DNAH8):c.4176G>T (p.Leu1392Phe) rs1191544240 0.00001
NM_001206927.2(DNAH8):c.4327C>A (p.Pro1443Thr) rs536307444 0.00001
NM_001206927.2(DNAH8):c.4349G>A (p.Arg1450Lys) rs145520125 0.00001
NM_001206927.2(DNAH8):c.4463C>T (p.Thr1488Ile) rs370607993 0.00001
NM_001206927.2(DNAH8):c.453A>G (p.Ile151Met) rs376030488 0.00001
NM_001206927.2(DNAH8):c.4540G>C (p.Glu1514Gln) rs1407889028 0.00001
NM_001206927.2(DNAH8):c.4750G>A (p.Glu1584Lys) rs201823651 0.00001
NM_001206927.2(DNAH8):c.4819C>T (p.Leu1607Phe) rs1554226482 0.00001
NM_001206927.2(DNAH8):c.4845+5A>G rs776258788 0.00001
NM_001206927.2(DNAH8):c.4852T>C (p.Cys1618Arg) rs1411389193 0.00001
NM_001206927.2(DNAH8):c.4889A>G (p.Lys1630Arg) rs1026014401 0.00001
NM_001206927.2(DNAH8):c.4939G>A (p.Ala1647Thr) rs754359838 0.00001
NM_001206927.2(DNAH8):c.4976C>T (p.Thr1659Ile) rs751367633 0.00001
NM_001206927.2(DNAH8):c.5161G>A (p.Val1721Ile) rs746165563 0.00001
NM_001206927.2(DNAH8):c.5222T>C (p.Ile1741Thr) rs761361186 0.00001
NM_001206927.2(DNAH8):c.5252G>A (p.Arg1751Gln) rs756837520 0.00001
NM_001206927.2(DNAH8):c.5275A>G (p.Ile1759Val) rs1775642975 0.00001
NM_001206927.2(DNAH8):c.5363+4A>T rs745592082 0.00001
NM_001206927.2(DNAH8):c.5399T>A (p.Phe1800Tyr) rs1775751486 0.00001
NM_001206927.2(DNAH8):c.5525A>G (p.Tyr1842Cys) rs566394706 0.00001
NM_001206927.2(DNAH8):c.5571+4A>G rs762150721 0.00001
NM_001206927.2(DNAH8):c.5572-16T>G rs745427720 0.00001
NM_001206927.2(DNAH8):c.5618T>C (p.Leu1873Pro) rs759541064 0.00001
NM_001206927.2(DNAH8):c.5908G>A (p.Glu1970Lys) rs138892245 0.00001
NM_001206927.2(DNAH8):c.5968C>T (p.His1990Tyr) rs1776528709 0.00001
NM_001206927.2(DNAH8):c.5971A>G (p.Ile1991Val) rs758528601 0.00001
NM_001206927.2(DNAH8):c.5978C>T (p.Ser1993Leu) rs747224041 0.00001
NM_001206927.2(DNAH8):c.6058G>C (p.Asp2020His) rs761500520 0.00001
NM_001206927.2(DNAH8):c.6097A>G (p.Thr2033Ala) rs1043207748 0.00001
NM_001206927.2(DNAH8):c.6104G>A (p.Arg2035His) rs758868992 0.00001
NM_001206927.2(DNAH8):c.6172G>A (p.Gly2058Arg) rs1413407899 0.00001
NM_001206927.2(DNAH8):c.6548A>G (p.Gln2183Arg) rs892309036 0.00001
NM_001206927.2(DNAH8):c.6594G>A (p.Met2198Ile) rs765618018 0.00001
NM_001206927.2(DNAH8):c.6655G>A (p.Val2219Ile) rs368252927 0.00001
NM_001206927.2(DNAH8):c.6656T>C (p.Val2219Ala) rs571866276 0.00001
NM_001206927.2(DNAH8):c.669A>G (p.Ile223Met) rs1249365541 0.00001
NM_001206927.2(DNAH8):c.671A>G (p.Asp224Gly) rs1763929974 0.00001
NM_001206927.2(DNAH8):c.674A>G (p.Asn225Ser) rs548292757 0.00001
NM_001206927.2(DNAH8):c.6800G>A (p.Gly2267Glu) rs766818202 0.00001
NM_001206927.2(DNAH8):c.6864C>G (p.Ile2288Met) rs1412777895 0.00001
NM_001206927.2(DNAH8):c.722G>C (p.Cys241Ser) rs1007614402 0.00001
NM_001206927.2(DNAH8):c.7255A>C (p.Ile2419Leu) rs967704640 0.00001
NM_001206927.2(DNAH8):c.762+4T>G rs552492150 0.00001
NM_001206927.2(DNAH8):c.7620+6del rs764807072 0.00001
NM_001206927.2(DNAH8):c.7624C>G (p.Leu2542Val) rs771169521 0.00001
NM_001206927.2(DNAH8):c.767C>T (p.Ala256Val) rs776968317 0.00001
NM_001206927.2(DNAH8):c.774T>A (p.Phe258Leu) rs1056358638 0.00001
NM_001206927.2(DNAH8):c.7817G>T (p.Gly2606Val) rs533990732 0.00001
NM_001206927.2(DNAH8):c.7850C>T (p.Thr2617Ile) rs778554035 0.00001
NM_001206927.2(DNAH8):c.7906A>G (p.Thr2636Ala) rs752099198 0.00001
NM_001206927.2(DNAH8):c.791C>T (p.Ser264Leu) rs751829816 0.00001
NM_001206927.2(DNAH8):c.797G>C (p.Gly266Ala) rs796636840 0.00001
NM_001206927.2(DNAH8):c.7984A>G (p.Ile2662Val) rs575966640 0.00001
NM_001206927.2(DNAH8):c.8123C>A (p.Pro2708Gln) rs757381549 0.00001
NM_001206927.2(DNAH8):c.8165G>A (p.Arg2722Gln) rs1330298296 0.00001
NM_001206927.2(DNAH8):c.8303T>C (p.Met2768Thr) rs780498241 0.00001
NM_001206927.2(DNAH8):c.8381G>A (p.Gly2794Asp) rs1274347654 0.00001
NM_001206927.2(DNAH8):c.8729G>A (p.Ser2910Asn) rs769727126 0.00001
NM_001206927.2(DNAH8):c.877A>C (p.Asn293His) rs971110651 0.00001
NM_001206927.2(DNAH8):c.8794C>T (p.Arg2932Cys) rs367945482 0.00001
NM_001206927.2(DNAH8):c.8842C>T (p.Pro2948Ser) rs980617815 0.00001
NM_001206927.2(DNAH8):c.8851T>C (p.Tyr2951His) rs1448270591 0.00001
NM_001206927.2(DNAH8):c.9050C>T (p.Thr3017Ile) rs776762950 0.00001
NM_001206927.2(DNAH8):c.9164G>A (p.Gly3055Asp) rs753516152 0.00001
NM_001206927.2(DNAH8):c.9182T>C (p.Ile3061Thr) rs373054540 0.00001
NM_001206927.2(DNAH8):c.9195G>T (p.Arg3065Ser) rs1339146673 0.00001
NM_001206927.2(DNAH8):c.9221A>G (p.Asp3074Gly) rs748431291 0.00001
NM_001206927.2(DNAH8):c.931A>G (p.Arg311Gly) rs781343452 0.00001
NM_001206927.2(DNAH8):c.9434C>G (p.Pro3145Arg) rs747278340 0.00001
NM_001206927.2(DNAH8):c.9455A>G (p.Tyr3152Cys) rs1442918944 0.00001
NM_001206927.2(DNAH8):c.958A>G (p.Arg320Gly) rs757946681 0.00001
NM_001206927.2(DNAH8):c.9721T>C (p.Cys3241Arg) rs1285827985 0.00001
NM_001206927.2(DNAH8):c.9749G>A (p.Arg3250Gln) rs370474987 0.00001
NM_001206927.2(DNAH8):c.9793G>T (p.Gly3265Cys) rs1060501471 0.00001
NM_001206927.2(DNAH8):c.9961G>A (p.Glu3321Lys) rs200884766 0.00001
NM_001256715.2(DNAAF3):c.-24G>A rs1397391020 0.00001
NM_001256715.2(DNAAF3):c.-3G>T rs757302187 0.00001
NM_001256715.2(DNAAF3):c.-69C>G rs772986651 0.00001
NM_001256715.2(DNAAF3):c.-75G>C rs537597795 0.00001
NM_001256715.2(DNAAF3):c.1017C>A (p.His339Gln) rs560113507 0.00001
NM_001256715.2(DNAAF3):c.1055C>T (p.Pro352Leu) rs201462060 0.00001
NM_001256715.2(DNAAF3):c.1223T>C (p.Ile408Thr) rs760023977 0.00001
NM_001256715.2(DNAAF3):c.1237C>T (p.Arg413Trp) rs747247157 0.00001
NM_001256715.2(DNAAF3):c.1239-20A>G rs766394618 0.00001
NM_001256715.2(DNAAF3):c.132C>A (p.Asn44Lys) rs929924324 0.00001
NM_001256715.2(DNAAF3):c.134C>G (p.Pro45Arg) rs753533801 0.00001
NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys) rs745788397 0.00001
NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu) rs754170208 0.00001
NM_001256715.2(DNAAF3):c.250C>G (p.Leu84Val) rs1162845336 0.00001
NM_001256715.2(DNAAF3):c.28G>A (p.Gly10Ser) rs375170399 0.00001
NM_001256715.2(DNAAF3):c.322G>A (p.Glu108Lys) rs201688782 0.00001
NM_001256715.2(DNAAF3):c.368G>A (p.Arg123His) rs1432760382 0.00001
NM_001256715.2(DNAAF3):c.491G>A (p.Arg164Gln) rs771839338 0.00001
NM_001256715.2(DNAAF3):c.508G>T (p.Val170Leu) rs761802279 0.00001
NM_001256715.2(DNAAF3):c.619G>A (p.Gly207Ser) rs1464540393 0.00001
NM_001256715.2(DNAAF3):c.661G>A (p.Gly221Arg) rs1302666486 0.00001
NM_001256715.2(DNAAF3):c.665C>T (p.Ala222Val) rs866731630 0.00001
NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala) rs776223691 0.00001
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro) rs534298243 0.00001
NM_001256715.2(DNAAF3):c.789C>T (p.Tyr263=) rs776072944 0.00001
NM_001256715.2(DNAAF3):c.800G>C (p.Arg267Pro) rs753871688 0.00001
NM_001256715.2(DNAAF3):c.820T>C (p.Trp274Arg) rs749849022 0.00001
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp) rs966788457 0.00001
NM_001256715.2(DNAAF3):c.86-1G>T rs1275579676 0.00001
NM_001256715.2(DNAAF3):c.86-49G>A rs2085932939 0.00001
NM_001256715.2(DNAAF3):c.904C>A (p.Pro302Thr) rs920224734 0.00001
NM_001256715.2(DNAAF3):c.922G>A (p.Glu308Lys) rs1026878171 0.00001
NM_001256715.2(DNAAF3):c.94G>T (p.Val32Leu) rs1319982930 0.00001
NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu) rs200938793 0.00001
NM_001256715.2(DNAAF3):c.997G>T (p.Asp333Tyr) rs571791610 0.00001
NM_001277115.2(DNAH11):c.10165+1_10165+3dup rs1562554533 0.00001
NM_001277115.2(DNAH11):c.10332+3A>G rs774841011 0.00001
NM_001277115.2(DNAH11):c.10418T>C (p.Leu3473Pro) rs1283113333 0.00001
NM_001277115.2(DNAH11):c.1045C>T (p.Leu349Phe) rs1783576480 0.00001
NM_001277115.2(DNAH11):c.10562A>G (p.Gln3521Arg) rs2128000172 0.00001
NM_001277115.2(DNAH11):c.10737T>G (p.Phe3579Leu) rs369261194 0.00001
NM_001277115.2(DNAH11):c.10761G>A (p.Leu3587=) rs1467510424 0.00001
NM_001277115.2(DNAH11):c.10838A>G (p.Glu3613Gly) rs1229352440 0.00001
NM_001277115.2(DNAH11):c.10939A>C (p.Lys3647Gln) rs1216990655 0.00001
NM_001277115.2(DNAH11):c.1102A>G (p.Ile368Val) rs1035113303 0.00001
NM_001277115.2(DNAH11):c.11061+4G>A rs565942670 0.00001
NM_001277115.2(DNAH11):c.11155A>G (p.Ile3719Val) rs1213978269 0.00001
NM_001277115.2(DNAH11):c.11177A>T (p.Asn3726Ile) rs1373207381 0.00001
NM_001277115.2(DNAH11):c.11327T>C (p.Leu3776Pro) rs751761608 0.00001
NM_001277115.2(DNAH11):c.11344C>G (p.Leu3782Val) rs780334924 0.00001
NM_001277115.2(DNAH11):c.11361G>T (p.Gln3787His) rs747740981 0.00001
NM_001277115.2(DNAH11):c.1142C>A (p.Pro381Gln) rs1783581108 0.00001
NM_001277115.2(DNAH11):c.11500A>G (p.Ile3834Val) rs988953435 0.00001
NM_001277115.2(DNAH11):c.11693A>G (p.Asn3898Ser) rs547168550 0.00001
NM_001277115.2(DNAH11):c.1177A>C (p.Asn393His) rs374949958 0.00001
NM_001277115.2(DNAH11):c.11840-3C>T rs757371660 0.00001
NM_001277115.2(DNAH11):c.1195G>T (p.Ala399Ser) rs1783824859 0.00001
NM_001277115.2(DNAH11):c.11984C>T (p.Ala3995Val) rs765575732 0.00001
NM_001277115.2(DNAH11):c.12046T>G (p.Tyr4016Asp) rs747067327 0.00001
NM_001277115.2(DNAH11):c.12195+3A>G rs763238523 0.00001
NM_001277115.2(DNAH11):c.12461G>A (p.Arg4154His) rs375799557 0.00001
NM_001277115.2(DNAH11):c.12472C>T (p.Arg4158Trp) rs1351456737 0.00001
NM_001277115.2(DNAH11):c.12507G>C (p.Leu4169=) rs113963998 0.00001
NM_001277115.2(DNAH11):c.12781A>G (p.Lys4261Glu) rs1463277085 0.00001
NM_001277115.2(DNAH11):c.13303+3_13303+43dup rs775161725 0.00001
NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys) rs376735165 0.00001
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe) rs1320072390 0.00001
NM_001277115.2(DNAH11):c.1710+3T>G rs376968286 0.00001
NM_001277115.2(DNAH11):c.1973+6T>C rs774830486 0.00001
NM_001277115.2(DNAH11):c.2792T>A (p.Leu931Gln) rs1450132388 0.00001
NM_001277115.2(DNAH11):c.2918T>C (p.Val973Ala) rs1785015935 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001277115.2(DNAH11):c.3000+3A>G rs781625159 0.00001
NM_001277115.2(DNAH11):c.3002A>G (p.Asn1001Ser) rs1468087350 0.00001
NM_001277115.2(DNAH11):c.314G>C (p.Ser105Thr) rs755427308 0.00001
NM_001277115.2(DNAH11):c.3194A>G (p.Asp1065Gly) rs1269889816 0.00001
NM_001277115.2(DNAH11):c.3650A>G (p.Glu1217Gly) rs550890688 0.00001
NM_001277115.2(DNAH11):c.3852G>A (p.Lys1284=) rs764336866 0.00001
NM_001277115.2(DNAH11):c.4029G>C (p.Trp1343Cys) rs1785776846 0.00001
NM_001277115.2(DNAH11):c.4065G>C (p.Gln1355His) rs998146886 0.00001
NM_001277115.2(DNAH11):c.4095+3G>A rs375356107 0.00001
NM_001277115.2(DNAH11):c.4099A>G (p.Ile1367Val) rs2128453076 0.00001
NM_001277115.2(DNAH11):c.4218G>T (p.Arg1406Ser) rs1016300664 0.00001
NM_001277115.2(DNAH11):c.4242G>A (p.Met1414Ile) rs1785849014 0.00001
NM_001277115.2(DNAH11):c.4249A>T (p.Ile1417Phe) rs1785849179 0.00001
NM_001277115.2(DNAH11):c.4678C>G (p.Leu1560Val) rs878854443 0.00001
NM_001277115.2(DNAH11):c.4817+6A>C rs1006884453 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.4901C>G (p.Ala1634Gly) rs1583553658 0.00001
NM_001277115.2(DNAH11):c.5036T>C (p.Met1679Thr) rs1370716502 0.00001
NM_001277115.2(DNAH11):c.5433C>A (p.Asp1811Glu) rs761154725 0.00001
NM_001277115.2(DNAH11):c.5503C>T (p.His1835Tyr) rs1783248117 0.00001
NM_001277115.2(DNAH11):c.6180+3G>A rs1418531861 0.00001
NM_001277115.2(DNAH11):c.6180+6G>A rs770361540 0.00001
NM_001277115.2(DNAH11):c.6637C>T (p.Leu2213Phe) rs1247578744 0.00001
NM_001277115.2(DNAH11):c.6650T>C (p.Ile2217Thr) rs1373204477 0.00001
NM_001277115.2(DNAH11):c.6770T>A (p.Val2257Asp) rs752450668 0.00001
NM_001277115.2(DNAH11):c.6834+5A>G rs920634147 0.00001
NM_001277115.2(DNAH11):c.6835G>A (p.Val2279Met) rs766652102 0.00001
NM_001277115.2(DNAH11):c.6842C>A (p.Thr2281Asn) rs886062179 0.00001
NM_001277115.2(DNAH11):c.6986A>G (p.Tyr2329Cys) rs750881107 0.00001
NM_001277115.2(DNAH11):c.6998G>T (p.Trp2333Leu) rs1440638496 0.00001
NM_001277115.2(DNAH11):c.7021T>C (p.Ser2341Pro) rs1784722405 0.00001
NM_001277115.2(DNAH11):c.7180C>G (p.Pro2394Ala) rs1336741273 0.00001
NM_001277115.2(DNAH11):c.7266+8T>A rs1486256470 0.00001
NM_001277115.2(DNAH11):c.7456A>G (p.Thr2486Ala) rs752787517 0.00001
NM_001277115.2(DNAH11):c.7643A>G (p.Gln2548Arg) rs757926745 0.00001
NM_001277115.2(DNAH11):c.7726G>A (p.Asp2576Asn) rs1282090941 0.00001
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258 0.00001
NM_001277115.2(DNAH11):c.7811+6C>T rs1436992109 0.00001
NM_001277115.2(DNAH11):c.7916G>C (p.Arg2639Thr) rs763451137 0.00001
NM_001277115.2(DNAH11):c.7945C>T (p.Pro2649Ser) rs1785919163 0.00001
NM_001277115.2(DNAH11):c.823C>G (p.Gln275Glu) rs750255266 0.00001
NM_001277115.2(DNAH11):c.8627T>G (p.Val2876Gly) rs753221223 0.00001
NM_001277115.2(DNAH11):c.8734C>G (p.Leu2912Val) rs1583656768 0.00001
NM_001277115.2(DNAH11):c.8796A>C (p.Ser2932=) rs771796985 0.00001
NM_001277115.2(DNAH11):c.8941-3C>T rs771608078 0.00001
NM_001277115.2(DNAH11):c.947C>T (p.Pro316Leu) rs1783443732 0.00001
NM_001364171.2(ODAD1):c.1108G>T (p.Asp370Tyr) rs900428958 0.00001
NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg) rs780566776 0.00001
NM_001364171.2(ODAD1):c.1120T>G (p.Leu374Val) rs772352412 0.00001
NM_001364171.2(ODAD1):c.1166A>G (p.Lys389Arg) rs199792051 0.00001
NM_001364171.2(ODAD1):c.1192G>A (p.Glu398Lys) rs1462057746 0.00001
NM_001364171.2(ODAD1):c.1195G>T (p.Ala399Ser) rs750212100 0.00001
NM_001364171.2(ODAD1):c.1210G>A (p.Val404Met) rs1453033038 0.00001
NM_001364171.2(ODAD1):c.1237G>T (p.Ala413Ser) rs760007535 0.00001
NM_001364171.2(ODAD1):c.127C>T (p.Arg43Trp) rs1214771019 0.00001
NM_001364171.2(ODAD1):c.1361G>A (p.Arg454Gln) rs765660029 0.00001
NM_001364171.2(ODAD1):c.1451G>A (p.Ser484Asn) rs765137896 0.00001
NM_001364171.2(ODAD1):c.1462C>T (p.Leu488Phe) rs1445643020 0.00001
NM_001364171.2(ODAD1):c.154C>T (p.Arg52Cys) rs754968402 0.00001
NM_001364171.2(ODAD1):c.1600G>A (p.Ala534Thr) rs761328296 0.00001
NM_001364171.2(ODAD1):c.1673C>T (p.Ala558Val) rs1206811360 0.00001
NM_001364171.2(ODAD1):c.170+3G>C rs1968966704 0.00001
NM_001364171.2(ODAD1):c.1772G>A (p.Arg591His) rs559302212 0.00001
NM_001364171.2(ODAD1):c.1841C>T (p.Thr614Met) rs372889077 0.00001
NM_001364171.2(ODAD1):c.1844A>G (p.His615Arg) rs550620006 0.00001
NM_001364171.2(ODAD1):c.1889C>T (p.Ala630Val) rs147527014 0.00001
NM_001364171.2(ODAD1):c.1932C>G (p.Ser644Arg) rs773108289 0.00001
NM_001364171.2(ODAD1):c.1934G>C (p.Ser645Thr) rs139193954 0.00001
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs) rs745526849 0.00001
NM_001364171.2(ODAD1):c.2029G>A (p.Gly677Arg) rs771734792 0.00001
NM_001364171.2(ODAD1):c.2038G>A (p.Gly680Arg) rs757626365 0.00001
NM_001364171.2(ODAD1):c.278T>G (p.Met93Arg) rs960251356 0.00001
NM_001364171.2(ODAD1):c.299G>A (p.Arg100Gln) rs1334678379 0.00001
NM_001364171.2(ODAD1):c.314C>T (p.Ala105Val) rs1402875362 0.00001
NM_001364171.2(ODAD1):c.413C>T (p.Pro138Leu) rs527907938 0.00001
NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly) rs1281163225 0.00001
NM_001364171.2(ODAD1):c.482G>A (p.Arg161Lys) rs1449020201 0.00001
NM_001364171.2(ODAD1):c.507G>C (p.Gln169His) rs1469941166 0.00001
NM_001364171.2(ODAD1):c.515G>A (p.Arg172Gln) rs369531391 0.00001
NM_001364171.2(ODAD1):c.521C>T (p.Ala174Val) rs868114984 0.00001
NM_001364171.2(ODAD1):c.550C>T (p.Arg184Trp) rs534421243 0.00001
NM_001364171.2(ODAD1):c.572T>C (p.Leu191Pro) rs1968764329 0.00001
NM_001364171.2(ODAD1):c.608A>C (p.His203Pro) rs1569006344 0.00001
NM_001364171.2(ODAD1):c.658G>A (p.Ala220Thr) rs773209379 0.00001
NM_001364171.2(ODAD1):c.667G>A (p.Glu223Lys) rs773119584 0.00001
NM_001364171.2(ODAD1):c.698G>A (p.Arg233Gln) rs199960441 0.00001
NM_001364171.2(ODAD1):c.703C>T (p.Arg235Cys) rs113520498 0.00001
NM_001364171.2(ODAD1):c.734T>C (p.Met245Thr) rs760357218 0.00001
NM_001364171.2(ODAD1):c.818C>T (p.Pro273Leu) rs760482173 0.00001
NM_001364171.2(ODAD1):c.844G>C (p.Glu282Gln) rs866968571 0.00001
NM_001364171.2(ODAD1):c.919G>T (p.Ala307Ser) rs772349661 0.00001
NM_001364171.2(ODAD1):c.945G>T (p.Met315Ile) rs746835308 0.00001
NM_001364171.2(ODAD1):c.956A>G (p.Asp319Gly) rs758135332 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr) rs1751970470 0.00001
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg) rs1751957147 0.00001
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg) rs1057517890 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His) rs1013623560 0.00001
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr) rs777472272 0.00001
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile) rs1247178605 0.00001
NM_001369.3(DNAH5):c.11237T>C (p.Leu3746Pro) rs373741309 0.00001
NM_001369.3(DNAH5):c.11248G>A (p.Val3750Ile) rs1209708350 0.00001
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys) rs751996726 0.00001
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser) rs1163468590 0.00001
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys) rs1554027892 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys) rs761555252 0.00001
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His) rs1181350575 0.00001
NM_001369.3(DNAH5):c.11632G>A (p.Glu3878Lys) rs202140771 0.00001
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala) rs1305527957 0.00001
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys) rs1469239990 0.00001
NM_001369.3(DNAH5):c.1171G>A (p.Glu391Lys) rs1776643297 0.00001
NM_001369.3(DNAH5):c.11755A>T (p.Ile3919Phe) rs1268213717 0.00001
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr) rs1746210228 0.00001
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708 0.00001
NM_001369.3(DNAH5):c.11883G>A (p.Gln3961=) rs1470925950 0.00001
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser) rs1283903903 0.00001
NM_001369.3(DNAH5):c.12033+4A>G rs746256175 0.00001
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro) rs747828322 0.00001
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His) rs1312294784 0.00001
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met) rs529288295 0.00001
NM_001369.3(DNAH5):c.12157T>C (p.Ser4053Pro) rs140496584 0.00001
NM_001369.3(DNAH5):c.12368A>G (p.His4123Arg) rs1218242577 0.00001
NM_001369.3(DNAH5):c.12404A>G (p.His4135Arg) rs1744680585 0.00001
NM_001369.3(DNAH5):c.12437C>T (p.Ser4146Phe) rs750170721 0.00001
NM_001369.3(DNAH5):c.1246G>A (p.Gly416Arg) rs773648190 0.00001
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn) rs748199626 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn) rs1354484933 0.00001
NM_001369.3(DNAH5):c.12906C>G (p.Ile4302Met) rs113914833 0.00001
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr) rs377316131 0.00001
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu) rs560535018 0.00001
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp) rs530188302 0.00001
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys) rs886142477 0.00001
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr) rs1432614095 0.00001
NM_001369.3(DNAH5):c.13227C>A (p.Ser4409Arg) rs139357559 0.00001
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met) rs1561084758 0.00001
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu) rs756228394 0.00001
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg) rs916403814 0.00001
NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val) rs761546028 0.00001
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala) rs779916415 0.00001
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr) rs746819760 0.00001
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu) rs1776307720 0.00001
NM_001369.3(DNAH5):c.1891C>T (p.Arg631Cys) rs776400781 0.00001
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His) rs746476934 0.00001
NM_001369.3(DNAH5):c.193-3C>A rs777003278 0.00001
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile) rs1778072400 0.00001
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys) rs1216239202 0.00001
NM_001369.3(DNAH5):c.2417C>T (p.Thr806Ile) rs766649400 0.00001
NM_001369.3(DNAH5):c.2461A>G (p.Asn821Asp) rs138346465 0.00001
NM_001369.3(DNAH5):c.2479C>T (p.Arg827Cys) rs760986984 0.00001
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr) rs372432790 0.00001
NM_001369.3(DNAH5):c.259G>A (p.Val87Met) rs1778067241 0.00001
NM_001369.3(DNAH5):c.275C>T (p.Thr92Ile) rs765566079 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.2804C>T (p.Ala935Val) rs1457781570 0.00001
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys) rs762848961 0.00001
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu) rs748538358 0.00001
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp) rs928800148 0.00001
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln) rs540368538 0.00001
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala) rs756780275 0.00001
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg) rs367835771 0.00001
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val) rs1771855564 0.00001
NM_001369.3(DNAH5):c.3236T>C (p.Val1079Ala) rs1771847921 0.00001
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser) rs371783309 0.00001
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu) rs781737643 0.00001
NM_001369.3(DNAH5):c.3559C>G (p.Pro1187Ala) rs753687076 0.00001
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg) rs1415125422 0.00001
NM_001369.3(DNAH5):c.3649A>G (p.Ile1217Val) rs765615614 0.00001
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln) rs781418120 0.00001
NM_001369.3(DNAH5):c.3736C>T (p.Pro1246Ser) rs1769992971 0.00001
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158 0.00001
NM_001369.3(DNAH5):c.3865C>T (p.Leu1289Phe) rs2546988627 0.00001
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His) rs759615079 0.00001
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys) rs183833827 0.00001
NM_001369.3(DNAH5):c.4208T>C (p.Leu1403Pro) rs1252035893 0.00001
NM_001369.3(DNAH5):c.4244T>C (p.Ile1415Thr) rs1769158038 0.00001
NM_001369.3(DNAH5):c.4295T>C (p.Ile1432Thr) rs753029826 0.00001
NM_001369.3(DNAH5):c.4355+6A>C rs771009010 0.00001
NM_001369.3(DNAH5):c.439-3C>T rs781442128 0.00001
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp) rs200732050 0.00001
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu) rs1268555395 0.00001
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly) rs1445337310 0.00001
NM_001369.3(DNAH5):c.4613C>T (p.Ala1538Val) rs201165908 0.00001
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr) rs374072143 0.00001
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg) rs1242688686 0.00001
NM_001369.3(DNAH5):c.4802A>G (p.Asn1601Ser) rs753256860 0.00001
NM_001369.3(DNAH5):c.5009A>G (p.His1670Arg) rs970902714 0.00001
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg) rs1385680717 0.00001
NM_001369.3(DNAH5):c.5104_5106dup (p.Ser1702_Leu1703insSer) rs1404960971 0.00001
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val) rs1354561021 0.00001
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val) rs1765756588 0.00001
NM_001369.3(DNAH5):c.5476C>G (p.Pro1826Ala) rs928564123 0.00001
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp) rs760640325 0.00001
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln) rs1253748219 0.00001
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val) rs1256145306 0.00001
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser) rs945907926 0.00001
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile) rs1286610541 0.00001
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val) rs1214362304 0.00001
NM_001369.3(DNAH5):c.5632C>G (p.Leu1878Val) rs1561401862 0.00001
NM_001369.3(DNAH5):c.565C>G (p.Leu189Val) rs1344395624 0.00001
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly) rs753473700 0.00001
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly) rs776748041 0.00001
NM_001369.3(DNAH5):c.5729G>A (p.Ser1910Asn) rs1314064272 0.00001
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp) rs775769384 0.00001
NM_001369.3(DNAH5):c.5762G>A (p.Arg1921Lys) rs1331052558 0.00001
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His) rs906638785 0.00001
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile) rs1060501465 0.00001
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr) rs1763565713 0.00001
NM_001369.3(DNAH5):c.5923G>C (p.Gly1975Arg) rs752901859 0.00001
NM_001369.3(DNAH5):c.6332G>A (p.Arg2111His) rs946204829 0.00001
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys) rs769252635 0.00001
NM_001369.3(DNAH5):c.6575A>G (p.Lys2192Arg) rs1004296804 0.00001
NM_001369.3(DNAH5):c.661G>A (p.Val221Met) rs1085307485 0.00001
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys) rs148526079 0.00001
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln) rs1317585354 0.00001
NM_001369.3(DNAH5):c.6839C>T (p.Thr2280Ile) rs763904116 0.00001
NM_001369.3(DNAH5):c.6902T>C (p.Met2301Thr) rs778689094 0.00001
NM_001369.3(DNAH5):c.6932A>C (p.Asp2311Ala) rs754787543 0.00001
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln) rs1349321210 0.00001
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr) rs144867885 0.00001
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val) rs776056472 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn) rs550329660 0.00001
NM_001369.3(DNAH5):c.7537A>T (p.Thr2513Ser) rs376433526 0.00001
NM_001369.3(DNAH5):c.7634G>A (p.Arg2545His) rs139348927 0.00001
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr) rs773280167 0.00001
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu) rs377639334 0.00001
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met) rs1161099550 0.00001
NM_001369.3(DNAH5):c.8224+5A>G rs1757333412 0.00001
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln) rs755210201 0.00001
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser) rs1167219863 0.00001
NM_001369.3(DNAH5):c.8564T>C (p.Phe2855Ser) rs1181279694 0.00001
NM_001369.3(DNAH5):c.860T>A (p.Leu287Gln) rs1177184350 0.00001
NM_001369.3(DNAH5):c.8698A>G (p.Ile2900Val) rs747438706 0.00001
NM_001369.3(DNAH5):c.8777T>C (p.Met2926Thr) rs372071561 0.00001
NM_001369.3(DNAH5):c.9229C>T (p.Arg3077Trp) rs1426289211 0.00001
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu) rs759831156 0.00001
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051 0.00001
NM_001369.3(DNAH5):c.9301A>C (p.Lys3101Gln) rs371436275 0.00001
NM_001369.3(DNAH5):c.9317T>C (p.Ile3106Thr) rs778312386 0.00001
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu) rs951528702 0.00001
NM_001369.3(DNAH5):c.9649G>A (p.Val3217Ile) rs1753033779 0.00001
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln) rs765104542 0.00001
NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg) rs141595747 0.00001
NM_001369.3(DNAH5):c.9823A>G (p.Lys3275Glu) rs1172460177 0.00001
NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly) rs1202143637 0.00001
NM_001369.3(DNAH5):c.9932C>T (p.Thr3311Met) rs1411648234 0.00001
NM_001369.3(DNAH5):c.9940C>T (p.Arg3314Cys) rs755923477 0.00001
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp) rs147893084 0.00001
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala) rs1470058689 0.00001
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe) rs570528970 0.00001
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala) rs1437841728 0.00001
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser) rs1412970451 0.00001
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala) rs904725096 0.00001
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys) rs144611423 0.00001
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met) rs1013728699 0.00001
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro) rs754149521 0.00001
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser) rs1554691490 0.00001
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala) rs1206542308 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr) rs1824447219 0.00001
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr) rs747382351 0.00001
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg) rs781530640 0.00001
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val) rs535760702 0.00001
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val) rs369540171 0.00001
NM_012144.4(DNAI1):c.389-6A>G rs878854966 0.00001
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val) rs779195390 0.00001
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn) rs547949645 0.00001
NM_012144.4(DNAI1):c.501G>T (p.Gly167=) rs767202701 0.00001
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile) rs1400236913 0.00001
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu) rs1236356655 0.00001
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp) rs749119217 0.00001
NM_012144.4(DNAI1):c.676A>C (p.Asn226His) rs769349211 0.00001
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr) rs747538328 0.00001
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu) rs775818668 0.00001
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile) rs1299113119 0.00001
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr) rs1228318421 0.00001
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr) rs1484370915 0.00001
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp) rs1367711266 0.00001
NM_012144.4(DNAI1):c.980A>T (p.Asn327Ile) rs201547687 0.00001
NM_015896.4(ZMYND10):c.1018C>T (p.Arg340Trp) rs748003863 0.00001
NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln) rs373018717 0.00001
NM_015896.4(ZMYND10):c.1168G>A (p.Glu390Lys) rs753509882 0.00001
NM_015896.4(ZMYND10):c.1172G>A (p.Arg391Gln) rs2109355008 0.00001
NM_015896.4(ZMYND10):c.1211G>A (p.Arg404His) rs781516139 0.00001
NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys) rs763739603 0.00001
NM_015896.4(ZMYND10):c.20T>C (p.Leu7Pro) rs1365093953 0.00001
NM_015896.4(ZMYND10):c.318G>A (p.Val106=) rs1559851686 0.00001
NM_015896.4(ZMYND10):c.367C>T (p.His123Tyr) rs753152960 0.00001
NM_015896.4(ZMYND10):c.44T>G (p.Leu15Arg) rs1703519203 0.00001
NM_015896.4(ZMYND10):c.550G>A (p.Ala184Thr) rs771849995 0.00001
NM_015896.4(ZMYND10):c.551C>T (p.Ala184Val) rs1182616344 0.00001
NM_015896.4(ZMYND10):c.575G>A (p.Arg192His) rs749419715 0.00001
NM_015896.4(ZMYND10):c.625A>G (p.Met209Val) rs781368194 0.00001
NM_015896.4(ZMYND10):c.674A>G (p.His225Arg) rs1207885001 0.00001
NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp) rs765212360 0.00001
NM_015896.4(ZMYND10):c.817C>T (p.Pro273Ser) rs768120521 0.00001
NM_015896.4(ZMYND10):c.830C>T (p.Ala277Val) rs1320999179 0.00001
NM_015896.4(ZMYND10):c.848G>A (p.Ser283Asn) rs587682566 0.00001
NM_015896.4(ZMYND10):c.922G>A (p.Ala308Thr) rs762334244 0.00001
NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp) rs774945751 0.00001
NM_015896.4(ZMYND10):c.999+4G>A rs1182770589 0.00001
NM_017802.4(DNAAF5):c.1016C>G (p.Pro339Arg) rs1781909318 0.00001
NM_017802.4(DNAAF5):c.1108G>A (p.Asp370Asn) rs200573334 0.00001
NM_017802.4(DNAAF5):c.1166A>G (p.His389Arg) rs781605077 0.00001
NM_017802.4(DNAAF5):c.1171G>A (p.Glu391Lys) rs770230973 0.00001
NM_017802.4(DNAAF5):c.1180G>A (p.Ala394Thr) rs760446732 0.00001
NM_017802.4(DNAAF5):c.1276C>G (p.Leu426Val) rs747227150 0.00001
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met) rs777008597 0.00001
NM_017802.4(DNAAF5):c.1340C>T (p.Thr447Met) rs369586981 0.00001
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser) rs751643186 0.00001
NM_017802.4(DNAAF5):c.1381C>T (p.Arg461Trp) rs373336873 0.00001
NM_017802.4(DNAAF5):c.1435C>G (p.Leu479Val) rs769427761 0.00001
NM_017802.4(DNAAF5):c.1471-3C>T rs543219185 0.00001
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His) rs368098310 0.00001
NM_017802.4(DNAAF5):c.1610A>G (p.Asp537Gly) rs926185028 0.00001
NM_017802.4(DNAAF5):c.1616C>T (p.Ala539Val) rs1333101328 0.00001
NM_017802.4(DNAAF5):c.1728C>G (p.Asp576Glu) rs1437350828 0.00001
NM_017802.4(DNAAF5):c.1735G>A (p.Ala579Thr) rs769804298 0.00001
NM_017802.4(DNAAF5):c.1771G>A (p.Val591Ile) rs754002298 0.00001
NM_017802.4(DNAAF5):c.17T>C (p.Val6Ala) rs1457911742 0.00001
NM_017802.4(DNAAF5):c.1802C>G (p.Ala601Gly) rs745537484 0.00001
NM_017802.4(DNAAF5):c.1865G>A (p.Arg622His) rs779833002 0.00001
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val) rs761189541 0.00001
NM_017802.4(DNAAF5):c.2048C>T (p.Ala683Val) rs1159798626 0.00001
NM_017802.4(DNAAF5):c.2069T>C (p.Leu690Pro) rs761120794 0.00001
NM_017802.4(DNAAF5):c.2167C>T (p.Arg723Cys) rs939008088 0.00001
NM_017802.4(DNAAF5):c.2176A>G (p.Asn726Asp) rs1046740643 0.00001
NM_017802.4(DNAAF5):c.2177A>C (p.Asn726Thr) rs1332012675 0.00001
NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser) rs915848808 0.00001
NM_017802.4(DNAAF5):c.23A>C (p.Glu8Ala) rs1562368980 0.00001
NM_017802.4(DNAAF5):c.2401C>G (p.Pro801Ala) rs995200421 0.00001
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys) rs755610202 0.00001
NM_017802.4(DNAAF5):c.2546A>C (p.Gln849Pro) rs768265611 0.00001
NM_017802.4(DNAAF5):c.259G>T (p.Asp87Tyr) rs929444289 0.00001
NM_017802.4(DNAAF5):c.392C>G (p.Ala131Gly) rs1347850043 0.00001
NM_017802.4(DNAAF5):c.420G>C (p.Glu140Asp) rs1439027627 0.00001
NM_017802.4(DNAAF5):c.440A>G (p.Gln147Arg) rs878855038 0.00001
NM_017802.4(DNAAF5):c.517T>C (p.Cys173Arg) rs902736696 0.00001
NM_017802.4(DNAAF5):c.568G>A (p.Ala190Thr) rs1781361793 0.00001
NM_017802.4(DNAAF5):c.607A>G (p.Met203Val) rs1194482161 0.00001
NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu) rs373565354 0.00001
NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser) rs145219827 0.00001
NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr) rs1781502389 0.00001
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His) rs1395390854 0.00001
NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro) rs780016631 0.00001
NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile) rs199854382 0.00001
NM_017802.4(DNAAF5):c.79C>G (p.Leu27Val) rs1487987262 0.00001
NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser) rs764170608 0.00001
NM_017802.4(DNAAF5):c.836G>A (p.Arg279His) rs978606639 0.00001
NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu) rs181807581 0.00001
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile) rs762425082 0.00001
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val) rs374337192 0.00001
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys) rs370338926 0.00001
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys) rs758068198 0.00001
NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln) rs1052231640 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.1286G>C (p.Arg429Thr) rs2510295947 0.00001
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526 0.00001
NM_017950.4(CCDC40):c.1441-10T>C rs1449128549 0.00001
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130 0.00001
NM_017950.4(CCDC40):c.1525C>T (p.Arg509Cys) rs749901313 0.00001
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn) rs1449822865 0.00001
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg) rs764252103 0.00001
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser) rs936824026 0.00001
NM_017950.4(CCDC40):c.1603G>A (p.Glu535Lys) rs201164121 0.00001
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys) rs1414723148 0.00001
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu) rs864622323 0.00001
NM_017950.4(CCDC40):c.1772A>G (p.Gln591Arg) rs1568706447 0.00001
NM_017950.4(CCDC40):c.1804C>A (p.Leu602Met) rs1213836538 0.00001
NM_017950.4(CCDC40):c.1806+5G>A rs530585863 0.00001
NM_017950.4(CCDC40):c.1861G>A (p.Glu621Lys) rs752125203 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_017950.4(CCDC40):c.1989+5G>A rs771945655 0.00001
NM_017950.4(CCDC40):c.2014G>A (p.Gly672Ser) rs769532664 0.00001
NM_017950.4(CCDC40):c.2051C>T (p.Thr684Ile) rs200542971 0.00001
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr) rs779993312 0.00001
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp) rs770751519 0.00001
NM_017950.4(CCDC40):c.2121G>C (p.Glu707Asp) rs981844099 0.00001
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp) rs368063104 0.00001
NM_017950.4(CCDC40):c.2185C>T (p.Leu729Phe) rs2038546542 0.00001
NM_017950.4(CCDC40):c.2191A>G (p.Asn731Asp) rs749147749 0.00001
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln) rs774558527 0.00001
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys) rs1568667170 0.00001
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr) rs1316337946 0.00001
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro) rs757581625 0.00001
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579 0.00001
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile) rs1211135006 0.00001
NM_017950.4(CCDC40):c.2734A>G (p.Lys912Glu) rs756183009 0.00001
NM_017950.4(CCDC40):c.2762G>A (p.Arg921His) rs745319642 0.00001
NM_017950.4(CCDC40):c.2779G>A (p.Glu927Lys) rs748652606 0.00001
NM_017950.4(CCDC40):c.2815G>A (p.Glu939Lys) rs750063649 0.00001
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln) rs751091185 0.00001
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val) rs752958200 0.00001
NM_017950.4(CCDC40):c.2899C>T (p.Arg967Cys) rs1483239449 0.00001
NM_017950.4(CCDC40):c.29+5G>A rs934195206 0.00001
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys) rs997113449 0.00001
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn) rs111550470 0.00001
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=) rs1567819545 0.00001
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met) rs374932269 0.00001
NM_017950.4(CCDC40):c.3244C>T (p.Arg1082Cys) rs1055443134 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro) rs1299508184 0.00001
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His) rs777500902 0.00001
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His) rs759177015 0.00001
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr) rs763389968 0.00001
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110 0.00001
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala) rs1568673922 0.00001
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser) rs878855043 0.00001
NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala) rs1181101788 0.00001
NM_017950.4(CCDC40):c.774G>A (p.Met258Ile) rs1206714328 0.00001
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys) rs541366157 0.00001
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg) rs1428646439 0.00001
NM_018139.3(DNAAF2):c.1069C>G (p.Pro357Ala) rs1382686393 0.00001
NM_018139.3(DNAAF2):c.10G>A (p.Ala4Thr) rs543582959 0.00001
NM_018139.3(DNAAF2):c.1130G>T (p.Gly377Val) rs1401045306 0.00001
NM_018139.3(DNAAF2):c.1183G>A (p.Ala395Thr) rs747641713 0.00001
NM_018139.3(DNAAF2):c.1198C>T (p.His400Tyr) rs1156840227 0.00001
NM_018139.3(DNAAF2):c.1252C>G (p.Pro418Ala) rs547345322 0.00001
NM_018139.3(DNAAF2):c.1280C>A (p.Ala427Asp) rs2502767943 0.00001
NM_018139.3(DNAAF2):c.1359G>T (p.Glu453Asp) rs765119356 0.00001
NM_018139.3(DNAAF2):c.137C>G (p.Pro46Arg) rs537173870 0.00001
NM_018139.3(DNAAF2):c.154T>C (p.Tyr52His) rs749085334 0.00001
NM_018139.3(DNAAF2):c.1590C>G (p.Asp530Glu) rs775386781 0.00001
NM_018139.3(DNAAF2):c.1622C>T (p.Pro541Leu) rs757899121 0.00001
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr) rs756765143 0.00001
NM_018139.3(DNAAF2):c.180G>C (p.Glu60Asp) rs1484307667 0.00001
NM_018139.3(DNAAF2):c.181C>T (p.Arg61Cys) rs1253214739 0.00001
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly) rs768172147 0.00001
NM_018139.3(DNAAF2):c.1841G>A (p.Gly614Asp) rs752092329 0.00001
NM_018139.3(DNAAF2):c.1856C>T (p.Ser619Phe) rs1224874110 0.00001
NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val) rs1883057031 0.00001
NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val) rs1224909457 0.00001
NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val) rs961303731 0.00001
NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter) rs901815790 0.00001
NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys) rs1469795552 0.00001
NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter) rs747290752 0.00001
NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg) rs780416166 0.00001
NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val) rs777785769 0.00001
NM_018139.3(DNAAF2):c.274G>C (p.Val92Leu) rs1416652175 0.00001
NM_018139.3(DNAAF2):c.299C>G (p.Ala100Gly) rs1246371500 0.00001
NM_018139.3(DNAAF2):c.305G>A (p.Ser102Asn) rs997340567 0.00001
NM_018139.3(DNAAF2):c.311G>A (p.Arg104Gln) rs2139584082 0.00001
NM_018139.3(DNAAF2):c.334G>C (p.Gly112Arg) rs1409395409 0.00001
NM_018139.3(DNAAF2):c.460G>A (p.Ala154Thr) rs1302191659 0.00001
NM_018139.3(DNAAF2):c.544C>G (p.Arg182Gly) rs1227265660 0.00001
NM_018139.3(DNAAF2):c.573G>T (p.Lys191Asn) rs1027490539 0.00001
NM_018139.3(DNAAF2):c.589G>A (p.Glu197Lys) rs1883282453 0.00001
NM_018139.3(DNAAF2):c.620G>A (p.Gly207Glu) rs751429432 0.00001
NM_018139.3(DNAAF2):c.631G>A (p.Ala211Thr) rs868693971 0.00001
NM_018139.3(DNAAF2):c.686A>G (p.Gln229Arg) rs762538506 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_018139.3(DNAAF2):c.719C>A (p.Ser240Tyr) rs779083314 0.00001
NM_018139.3(DNAAF2):c.722C>G (p.Pro241Arg) rs1409403452 0.00001
NM_018139.3(DNAAF2):c.74C>T (p.Ser25Phe) rs868381739 0.00001
NM_018139.3(DNAAF2):c.913A>G (p.Lys305Glu) rs778838837 0.00001
NM_021147.5(CCNO):c.1012C>G (p.Gln338Glu) rs770421646 0.00001
NM_021147.5(CCNO):c.166G>A (p.Gly56Ser) rs1489774896 0.00001
NM_021147.5(CCNO):c.208G>A (p.Gly70Ser) rs369830529 0.00001
NM_021147.5(CCNO):c.219C>G (p.Ser73Arg) rs1405417412 0.00001
NM_021147.5(CCNO):c.26C>T (p.Pro9Leu) rs776702978 0.00001
NM_021147.5(CCNO):c.370C>T (p.Arg124Trp) rs1017115994 0.00001
NM_021147.5(CCNO):c.371G>T (p.Arg124Leu) rs750998590 0.00001
NM_021147.5(CCNO):c.381+3G>A rs577008396 0.00001
NM_021147.5(CCNO):c.445C>G (p.Leu149Val) rs1170297559 0.00001
NM_021147.5(CCNO):c.463T>A (p.Cys155Ser) rs758456393 0.00001
NM_021147.5(CCNO):c.482T>C (p.Leu161Pro) rs535119119 0.00001
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu) rs1454235214 0.00001
NM_021147.5(CCNO):c.587G>T (p.Arg196Leu) rs756994700 0.00001
NM_021147.5(CCNO):c.589G>C (p.Val197Leu) rs751534793 0.00001
NM_021147.5(CCNO):c.724C>T (p.His242Tyr) rs1745584991 0.00001
NM_021147.5(CCNO):c.788G>C (p.Arg263Pro) rs746811253 0.00001
NM_021147.5(CCNO):c.808C>A (p.Leu270Met) rs748700550 0.00001
NM_021147.5(CCNO):c.866C>T (p.Ala289Val) rs773419820 0.00001
NM_021147.5(CCNO):c.945C>G (p.Asp315Glu) rs1240396964 0.00001
NM_021147.5(CCNO):c.949A>C (p.Met317Leu) rs780967882 0.00001
NM_021147.5(CCNO):c.989C>T (p.Ser330Phe) rs750696117 0.00001
NM_021147.5(CCNO):c.997C>T (p.His333Tyr) rs368310145 0.00001
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala) rs1297623367 0.00001
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala) rs772185024 0.00001
NM_023036.6(DNAI2):c.1347+6G>A rs769832640 0.00001
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln) rs774591252 0.00001
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg) rs765028301 0.00001
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp) rs748717910 0.00001
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln) rs769115235 0.00001
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val) rs794727074 0.00001
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr) rs778391861 0.00001
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu) rs201802455 0.00001
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln) rs200668134 0.00001
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys) rs1200979339 0.00001
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr) rs200125805 0.00001
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr) rs781712279 0.00001
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr) rs372975955 0.00001
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala) rs1465598154 0.00001
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg) rs758997612 0.00001
NM_023036.6(DNAI2):c.467+5C>T rs529401265 0.00001
NM_023036.6(DNAI2):c.467+6G>A rs1486894999 0.00001
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe) rs184354915 0.00001
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn) rs150649080 0.00001
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp) rs978797882 0.00001
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile) rs772245017 0.00001
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg) rs759166271 0.00001
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp) rs1033678565 0.00001
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys) rs779332423 0.00001
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly) rs1340319164 0.00001
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala) rs761883293 0.00001
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile) rs774323743 0.00001
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) rs763193003 0.00001
NM_080860.4(RSPH1):c.313T>C (p.Tyr105His) rs1388776078 0.00001
NM_080860.4(RSPH1):c.350G>T (p.Trp117Leu) rs758245475 0.00001
NM_080860.4(RSPH1):c.358C>T (p.His120Tyr) rs369525575 0.00001
NM_080860.4(RSPH1):c.365+4C>T rs201479872 0.00001
NM_080860.4(RSPH1):c.365+5G>A rs776206326 0.00001
NM_080860.4(RSPH1):c.433C>A (p.Gln145Lys) rs778786028 0.00001
NM_080860.4(RSPH1):c.451G>A (p.Glu151Lys) rs767070148 0.00001
NM_080860.4(RSPH1):c.474G>A (p.Arg158=) rs760988186 0.00001
NM_080860.4(RSPH1):c.560G>A (p.Arg187His) rs746604496 0.00001
NM_080860.4(RSPH1):c.630A>C (p.Lys210Asn) rs2054078912 0.00001
NM_080860.4(RSPH1):c.661A>G (p.Thr221Ala) rs369932767 0.00001
NM_080860.4(RSPH1):c.709G>C (p.Asp237His) rs368695982 0.00001
NM_080860.4(RSPH1):c.775G>A (p.Glu259Lys) rs762397242 0.00001
NM_145038.5(DRC1):c.1082A>C (p.Gln361Pro) rs970137380 0.00001
NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys) rs1182364971 0.00001
NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu) rs1663811432 0.00001
NM_145038.5(DRC1):c.1304C>T (p.Pro435Leu) rs747835380 0.00001
NM_145038.5(DRC1):c.1348C>A (p.Pro450Thr) rs1214850546 0.00001
NM_145038.5(DRC1):c.1372G>A (p.Val458Ile) rs372422691 0.00001
NM_145038.5(DRC1):c.137G>T (p.Arg46Leu) rs745457802 0.00001
NM_145038.5(DRC1):c.1424C>T (p.Ala475Val) rs200155316 0.00001
NM_145038.5(DRC1):c.1451C>T (p.Pro484Leu) rs149334724 0.00001
NM_145038.5(DRC1):c.1508C>T (p.Ser503Leu) rs779688284 0.00001
NM_145038.5(DRC1):c.1540C>T (p.Leu514Phe) rs1663961136 0.00001
NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly) rs760087399 0.00001
NM_145038.5(DRC1):c.1643A>T (p.Asn548Ile) rs1257446687 0.00001
NM_145038.5(DRC1):c.1739C>A (p.Thr580Lys) rs773007219 0.00001
NM_145038.5(DRC1):c.1892C>T (p.Ala631Val) rs751715818 0.00001
NM_145038.5(DRC1):c.1900A>G (p.Met634Val) rs1297970541 0.00001
NM_145038.5(DRC1):c.2056A>G (p.Lys686Glu) rs587776997 0.00001
NM_145038.5(DRC1):c.2099A>G (p.Glu700Gly) rs1347088566 0.00001
NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter) rs763706980 0.00001
NM_145038.5(DRC1):c.308T>C (p.Ile103Thr) rs774744171 0.00001
NM_145038.5(DRC1):c.460T>C (p.Trp154Arg) rs1167224672 0.00001
NM_145038.5(DRC1):c.46G>A (p.Glu16Lys) rs149082901 0.00001
NM_145038.5(DRC1):c.476C>T (p.Thr159Ile) rs368096684 0.00001
NM_145038.5(DRC1):c.528C>T (p.Ser176=) rs780717600 0.00001
NM_145038.5(DRC1):c.56C>T (p.Ser19Phe) rs753185786 0.00001
NM_145038.5(DRC1):c.697C>T (p.Arg233Cys) rs756180718 0.00001
NM_145038.5(DRC1):c.698G>A (p.Arg233His) rs760707903 0.00001
NM_145038.5(DRC1):c.71C>A (p.Ala24Glu) rs770464153 0.00001
NM_145038.5(DRC1):c.74C>G (p.Pro25Arg) rs778586998 0.00001
NM_145038.5(DRC1):c.765+6G>A rs374715318 0.00001
NM_145038.5(DRC1):c.77C>G (p.Ser26Trp) rs745542616 0.00001
NM_145038.5(DRC1):c.784C>T (p.Arg262Cys) rs748399379 0.00001
NM_145038.5(DRC1):c.785G>A (p.Arg262His) rs756078948 0.00001
NM_145038.5(DRC1):c.7C>T (p.Pro3Ser) rs759091863 0.00001
NM_145038.5(DRC1):c.963G>T (p.Gln321His) rs747446719 0.00001
NM_152732.5(RSPH9):c.118C>T (p.Arg40Cys) rs937089073 0.00001
NM_152732.5(RSPH9):c.11A>G (p.Asp4Gly) rs532399493 0.00001
NM_152732.5(RSPH9):c.128G>A (p.Arg43Gln) rs766284971 0.00001
NM_152732.5(RSPH9):c.154G>T (p.Gly52Cys) rs763447905 0.00001
NM_152732.5(RSPH9):c.235T>C (p.Cys79Arg) rs1468687902 0.00001
NM_152732.5(RSPH9):c.260C>G (p.Pro87Arg) rs774989438 0.00001
NM_152732.5(RSPH9):c.272A>G (p.Glu91Gly) rs777885477 0.00001
NM_152732.5(RSPH9):c.451G>A (p.Val151Met) rs1212095907 0.00001
NM_152732.5(RSPH9):c.481A>G (p.Lys161Glu) rs1351239709 0.00001
NM_152732.5(RSPH9):c.683T>C (p.Ile228Thr) rs753489926 0.00001
NM_152732.5(RSPH9):c.704C>T (p.Ala235Val) rs1057502519 0.00001
NM_152732.5(RSPH9):c.757C>T (p.Pro253Ser) rs1449083319 0.00001
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly) rs779981792 0.00001
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly) rs751146013 0.00001
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val) rs899339856 0.00001
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr) rs1033218638 0.00001
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala) rs2088240509 0.00001
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu) rs748991213 0.00001
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln) rs1385574276 0.00001
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg) rs750949357 0.00001
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu) rs755275918 0.00001
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser) rs566279701 0.00001
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr) rs2088403833 0.00001
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val) rs754836834 0.00001
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys) rs1215609214 0.00001
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00001
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val) rs1170737480 0.00001
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp) rs1366180142 0.00001
NM_178452.6(DNAAF1):c.1644+6T>C rs749557708 0.00001
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg) rs757333074 0.00001
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg) rs1290395779 0.00001
NM_178452.6(DNAAF1):c.1699-3T>C rs1177142525 0.00001
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) rs374900685 0.00001
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln) rs773443425 0.00001
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg) rs878855278 0.00001
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) rs775618173 0.00001
NM_178452.6(DNAAF1):c.2095G>A (p.Glu699Lys) rs1428022614 0.00001
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg) rs1210838568 0.00001
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val) rs932160879 0.00001
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser) rs113737166 0.00001
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His) rs200946538 0.00001
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val) rs545356113 0.00001
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val) rs1325784286 0.00001
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro) rs1555521180 0.00001
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln) rs1305691679 0.00001
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu) rs775622753 0.00001
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln) rs565199726 0.00001
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp) rs536922836 0.00001
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln) rs374704486 0.00001
NM_181426.2(CCDC39):c.1035G>C (p.Arg345Ser) rs770110944 0.00001
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) rs564446820 0.00001
NM_181426.2(CCDC39):c.1167+3A>G rs1225512283 0.00001
NM_181426.2(CCDC39):c.1222G>A (p.Glu408Lys) rs538640066 0.00001
NM_181426.2(CCDC39):c.1334T>G (p.Leu445Trp) rs184796738 0.00001
NM_181426.2(CCDC39):c.1344A>T (p.Gln448His) rs878974039 0.00001
NM_181426.2(CCDC39):c.1490C>T (p.Thr497Ile) rs765773503 0.00001
NM_181426.2(CCDC39):c.1568G>A (p.Ser523Asn) rs1418008218 0.00001
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe) rs373070816 0.00001
NM_181426.2(CCDC39):c.1825A>G (p.Met609Val) rs762805319 0.00001
NM_181426.2(CCDC39):c.1999-3T>C rs758649358 0.00001
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly) rs980451572 0.00001
NM_181426.2(CCDC39):c.2284G>A (p.Asp762Asn) rs1060502867 0.00001
NM_181426.2(CCDC39):c.2303C>T (p.Ala768Val) rs1400344619 0.00001
NM_181426.2(CCDC39):c.232C>T (p.Arg78Cys) rs878855281 0.00001
NM_181426.2(CCDC39):c.238A>G (p.Thr80Ala) rs368066081 0.00001
NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe) rs1015604911 0.00001
NM_181426.2(CCDC39):c.295G>C (p.Asp99His) rs1711752429 0.00001
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val) rs368618125 0.00001
NM_181426.2(CCDC39):c.347G>C (p.Ser116Thr) rs181573011 0.00001
NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr) rs891215870 0.00001
NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly) rs781232118 0.00001
NM_181426.2(CCDC39):c.470C>T (p.Ala157Val) rs770405043 0.00001
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala) rs752974826 0.00001
NM_181426.2(CCDC39):c.618G>C (p.Leu206Phe) rs1048916587 0.00001
NM_181426.2(CCDC39):c.662A>G (p.Gln221Arg) rs375385797 0.00001
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile) rs1445512588 0.00001
NM_181426.2(CCDC39):c.692T>C (p.Ile231Thr) rs748172583 0.00001
NM_181426.2(CCDC39):c.73A>G (p.Lys25Glu) rs746593370 0.00001
NM_213607.3(DNAAF19):c.106G>A (p.Ala36Thr) rs376733810 0.00001
NM_213607.3(DNAAF19):c.276+4G>A rs373891184 0.00001
NM_213607.3(DNAAF19):c.277G>A (p.Glu93Lys) rs374023294 0.00001
NM_213607.3(DNAAF19):c.319C>T (p.Arg107Cys) rs1482981695 0.00001
NM_213607.3(DNAAF19):c.329G>A (p.Arg110Gln) rs755213252 0.00001
NM_213607.3(DNAAF19):c.413A>C (p.Asp138Ala) rs372407548 0.00001
NM_213607.3(DNAAF19):c.437A>G (p.Glu146Gly) rs1389269843 0.00001
NM_213607.3(DNAAF19):c.500T>A (p.Leu167Gln) rs764358359 0.00001
NM_213607.3(DNAAF19):c.530C>T (p.Thr177Ile) rs1219108100 0.00001
NM_213607.3(DNAAF19):c.553C>T (p.Arg185Trp) rs773807492 0.00001
NM_213607.3(DNAAF19):c.5A>G (p.Glu2Gly) rs890129325 0.00001
NC_000002.11:g.(?_26624838)_(26644288_?)dup
NC_000003.11:g.(?_180365933)_(180381794_?)dup
NC_000003.11:g.(?_180379629)_(180379815_?)dup
NC_000003.11:g.(?_180397059)_(180397168_?)dup
NC_000003.11:g.(?_49866536)_(50540854_?)dup
NC_000005.10:g.(?_13791974)_(13944458_?)dup
NC_000005.10:g.(?_13791974)_(13944517_?)dup
NC_000005.9:g.(?_13692073)_(13692264_?)dup
NC_000005.9:g.(?_13692093)_(13754467_?)dup
NC_000005.9:g.(?_13792102)_(14184284_?)dup
NC_000005.9:g.(?_13840995)_(13841259_?)del
NC_000005.9:g.(?_54527203)_(54529351_?)dup
NC_000006.11:g.(?_116937787)_(117252669_?)dup
NC_000006.12:g.(?_38737047)_(38750609_?)del
NC_000007.13:g.(?_20994491)_(23213917_?)dup
NC_000007.13:g.(?_21582864)_(21678703_?)dup
NC_000007.13:g.(?_21824025)_(21828980_?)del
NC_000007.13:g.(?_21920300)_(21924048_?)dup
NC_000007.13:g.(?_766358)_(781122_?)dup
NC_000007.14:g.(?_21710533)_(21711880_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34520636)_(34520754_?)dup
NC_000014.8:g.(?_50050385)_(50118115_?)dup
NC_000016.9:g.(?_83932750)_(84211465_?)dup
NC_000017.10:g.(?_72277937)_(72310375_?)dup
NC_000017.10:g.(?_72277946)_(72310410_?)dup
NC_000017.10:g.(?_72277957)_(72310355_?)dup
NC_000017.10:g.(?_78071024)_(78073574_?)dup
NC_000017.10:g.(?_78071024)_(78073594_?)dup
NC_000017.10:g.(?_78071044)_(78074412_?)dup
NC_000017.11:g.(?_80085983)_(80095471_?)dup
NC_000019.10:g.(?_48296956)_(48312136_?)dup
NC_000019.9:g.(?_55663202)_(55678016_?)dup
NC_000019.9:g.(?_55670410)_(55678036_?)dup
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NC_000021.8:g.(?_43892908)_(44592410_?)dup
NC_000021.8:g.(?_43892908)_(45629566_?)dup
NC_000021.8:g.(?_43892928)_(43893000_?)dup
NC_000023.10:g.(?_37545209)_(38186626_?)dup
NC_000023.10:g.(?_38128879)_(38280335_?)dup
NC_000023.10:g.(?_38146328)_(38150297_?)del
NC_000023.10:g.(?_38156517)_(38164063_?)dup
NC_000023.10:g.(?_38156517)_(38240702_?)dup
NC_000023.10:g.(?_38169848)_(38182797_?)dup
NC_000023.10:g.(?_38176549)_(38215080_?)dup
NC_000023.11:g.(?_38269606)_(38269852_?)dup
NC_000023.11:g.(?_38269606)_(38310793_?)dup
NC_000023.11:g.38269681T>A
NC_000023.11:g.38269693C>T
NC_000023.11:g.38269735A>C rs2519740070
NC_000023.11:g.38269735A>G rs2519740070
NC_000023.11:g.38269738A>G rs2519740096
NC_000023.11:g.38273374_38273375delinsGG rs2519748822
NC_000023.11:g.38273403T>C rs2519748996
NC_000023.11:g.38273471A>C rs1399519309
NC_000023.11:g.38275085A>C rs945212131
NC_000023.11:g.38275103T>C rs2519754025
NC_000023.11:g.38275136G>A rs768757205
NC_000023.11:g.38276591T>C rs2519757288
NC_000023.11:g.38276591T>G
NC_000023.11:g.38276606G>A rs2519757364
NC_000023.11:g.38276615T>C
NC_000023.11:g.38276666C>T rs2519757661
NC_000023.11:g.38276669T>C rs2519757685
NC_000023.11:g.38276679C>T rs2066943017
NC_000023.11:g.38276682C>G rs2147169038
NC_000023.11:g.38276775G>A
NC_000023.11:g.38276784T>C rs2519758141
NM_000328.2(RPGR):c.-168-?_*456+?dup
NM_000328.3(RPGR):c.2350_2352del (p.Asp784del)
NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr) rs2482776945
NM_001010892.3(RSPH4A):c.110C>G (p.Pro37Arg) rs2115350900
NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del) rs776700072
NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr) rs754023097
NM_001010892.3(RSPH4A):c.1268G>A (p.Arg423Lys) rs2115361973
NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg) rs1775729139
NM_001010892.3(RSPH4A):c.145C>A (p.Pro49Thr) rs983632022
NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro) rs2482804164
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) rs565491418
NM_001010892.3(RSPH4A):c.152C>G (p.Thr51Ser) rs373900879
NM_001010892.3(RSPH4A):c.1564A>G (p.Ser522Gly) rs977234347
NM_001010892.3(RSPH4A):c.1641T>G (p.His547Gln) rs201238941
NM_001010892.3(RSPH4A):c.1704AGA[2] (p.Glu573del) rs757198203
NM_001010892.3(RSPH4A):c.1716AGA[1] (p.Glu573del) rs370030988
NM_001010892.3(RSPH4A):c.1778C>T (p.Thr593Ile)
NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg) rs775186734
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg) rs138413282
NM_001010892.3(RSPH4A):c.1858G>C (p.Ala620Pro) rs1775776988
NM_001010892.3(RSPH4A):c.1867G>A (p.Val623Ile) rs1562392873
NM_001010892.3(RSPH4A):c.1916+2dup
NM_001010892.3(RSPH4A):c.1917-2A>C rs2482814540
NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly) rs2482814903
NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg) rs748597085
NM_001010892.3(RSPH4A):c.2055G>C (p.Glu685Asp) rs2115368533
NM_001010892.3(RSPH4A):c.2071G>A (p.Ala691Thr) rs2115368553
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr) rs372304999
NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val) rs553472573
NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu) rs1397332406
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu) rs1775514576
NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro) rs2115351269
NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg) rs2482778128
NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg) rs1775520006
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln) rs780975506
NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro) rs761222226
NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val) rs2482778678
NM_001010892.3(RSPH4A):c.574T>A (p.Leu192Ile)
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) rs1436446801
NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly) rs1583346221
NM_001010892.3(RSPH4A):c.646G>T (p.Ala216Ser) rs1390787423
NM_001010892.3(RSPH4A):c.667A>G (p.Ser223Gly) rs1775525747
NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg) rs2482791121
NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr) rs1775632249
NM_001010892.3(RSPH4A):c.812T>C (p.Leu271Pro)
NM_001010892.3(RSPH4A):c.833T>G (p.Leu278Arg) rs1406041200
NM_001010892.3(RSPH4A):c.84A>G (p.Thr28=) rs1775508382
NM_001010892.3(RSPH4A):c.905A>G (p.Glu302Gly)
NM_001010892.3(RSPH4A):c.91_92delinsCT (p.Ser31Leu) rs863224690
NM_001010892.3(RSPH4A):c.931G>A (p.Ala311Thr) rs1330301417
NM_001010892.3(RSPH4A):c.961T>A (p.Tyr321Asn) rs2482802418
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser) rs759136845
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser) rs2519836369
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His) rs2519836268
NM_001034853.2(RPGR):c.1060-5T>A
NM_001034853.2(RPGR):c.1063G>A (p.Ala355Thr)
NM_001034853.2(RPGR):c.1067G>A (p.Cys356Tyr)
NM_001034853.2(RPGR):c.1070G>T (p.Gly357Val)
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala) rs2519912230
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del) rs1357261084
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser) rs769641256
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val) rs780403919
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn) rs866428513
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser) rs2067450541
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu) rs746767061
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu) rs772201779
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln) rs1044939968
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys) rs2519828610
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=) rs2519828558
NM_001034853.2(RPGR):c.1245_1245+6dup
NM_001034853.2(RPGR):c.1246-10T>C rs2519823420
NM_001034853.2(RPGR):c.1246-3A>G rs2519823407
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr) rs2519912062
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe) rs2519912062
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu) rs2067408372
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu) rs62638630
NM_001034853.2(RPGR):c.1331A>C (p.Asn444Thr)
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser) rs756926974
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val) rs2147291597
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro) rs2067404561
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val) rs1360745560
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val) rs774476238
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile) rs1237734243
NM_001034853.2(RPGR):c.1415-3C>G rs2519808771
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile) rs2067277205
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr) rs2519808301
NM_001034853.2(RPGR):c.1506+3A>G rs2147212763
NM_001034853.2(RPGR):c.1506+6G>C rs1464455035
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile) rs777543422
NM_001034853.2(RPGR):c.154+5G>A rs2519911751
NM_001034853.2(RPGR):c.1572+6del rs2519806122
NM_001034853.2(RPGR):c.1573-18_1573-15del rs1569238859
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser) rs2519909643
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg) rs2147203710
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu) rs2519798907
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile) rs2067218635
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val) rs2519798553
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del) rs1208778002
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln) rs2067217599
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu) rs757501405
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile) rs2519798251
NM_001034853.2(RPGR):c.172A>G (p.Met58Val)
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=) rs1060501179
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del) rs2067203132
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu) rs2519795385
NM_001034853.2(RPGR):c.1770G>C (p.Lys590Asn)
NM_001034853.2(RPGR):c.1796A>T (p.Asn599Ile)
NM_001034853.2(RPGR):c.1810C>G (p.Gln604Glu)
NM_001034853.2(RPGR):c.181A>T (p.Ser61Cys)
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser) rs1555961989
NM_001034853.2(RPGR):c.1831G>A (p.Glu611Lys)
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr) rs2519795032
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg) rs2519794957
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys) rs2067975926
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly) rs367882990
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser) rs902148095
NM_001034853.2(RPGR):c.1973C>A (p.Thr658Asn)
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly) rs2519794080
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu) rs2067975335
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln) rs1359767393
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val) rs2067194947
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val) rs2147199781
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp) rs377524122
NM_001034853.2(RPGR):c.2153G>A (p.Gly718Asp)
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs) rs2519793097
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala) rs1454265991
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del) rs768423834
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys) rs1459539276
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del) rs756401194
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del) rs2519792278
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His) rs1384034145
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del) rs1387045893
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg) rs2519791952
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del) rs1287687440
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del) rs1220781013
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del) rs1304711822
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly) rs2519791382
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg) rs2519791300
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del) rs745480662
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu) rs777850798
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg) rs1271729130
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg) rs375806829
NM_001034853.2(RPGR):c.247+5G>T rs2067974156
NM_001034853.2(RPGR):c.2477G>A (p.Arg826Lys)
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser) rs2067974263
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del) rs1224260017
NM_001034853.2(RPGR):c.2487_2513del (p.Glu831_Glu839del)
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del) rs2519790180
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del) rs765319100
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del) rs2519790167
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3]) rs1569236939
NM_001034853.2(RPGR):c.2516_2524del (p.Glu839_Glu841del)
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly) rs751710678
NM_001034853.2(RPGR):c.2520_2521insAAGGGGGAAGAGGAGGAAGGG (p.Gly840_Glu841insLysGlyGluGluGluGluGly)
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2]) rs751710678
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu) rs2519789434
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys) rs2519790060
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys) rs756933299
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly) rs2519789645
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg) rs2067172951
NM_001034853.2(RPGR):c.2572G>T (p.Gly858Trp)
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1]) rs1942516036
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del) rs1193509492
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del) rs771584745
NM_001034853.2(RPGR):c.2594_2608del (p.Gly865_Glu869del)
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del) rs2519789062
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu) rs2519789236
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly) rs1343966503
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu) rs1279895966
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del) rs2067166248
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu) rs2067166248
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del) rs1298062071
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly) rs2519788681
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1]) rs1569236514
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del) rs749799824
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1]) rs756520886
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg) rs2067164307
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1]) rs2519787339
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly) rs2519787339
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu) rs2519788457
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del) rs2067162950
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1]) rs781514081
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu) rs781514081
NM_001034853.2(RPGR):c.2667_2669dup (p.Glu890_Gly891insGlu)
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val) rs1418019007
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly) rs2519787327
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del) rs2067161070
NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu) rs2067161866
NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys) rs2519788018
NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly) rs2519787902
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1]) rs757402645
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) rs757402645
NM_001034853.2(RPGR):c.2718_2720del (p.Glu907del)
NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly) rs2519787623
NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly) rs2519787317
NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val) rs749762268
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del) rs2519787323
NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu) rs2519786584
NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del) rs1239505045
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del) rs1462676823
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del) rs2067156760
NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys) rs1203165819
NM_001034853.2(RPGR):c.2774G>A (p.Gly925Glu)
NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del) rs1348292879
NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu) rs2519786657
NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser) rs1297637323
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg) rs2519787093
NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2]) rs1384304050
NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del) rs2067152361
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del) rs1238945219
NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys) rs2519786858
NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del) rs1569235966
NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del) rs1481243862
NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2]) rs1446643540
NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del) rs1569236115
NM_001034853.2(RPGR):c.2815_2862dup (p.Glu954_Trp955insGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.281G>A (p.Cys94Tyr)
NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu) rs764268405
NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu) rs2519786511
NM_001034853.2(RPGR):c.2820_2840del (p.Asp943_Glu949del) rs764268405
NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu) rs201655057
NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu) rs2067148832
NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp) rs1333338518
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu) rs2519786258
NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly) rs2519785937
NM_001034853.2(RPGR):c.2843G>A (p.Gly948Glu)
NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys) rs1601919951
NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp) rs2519785985
NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del) rs2519785995
NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly) rs2519786062
NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys) rs2519786005
NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu) rs1223013740
NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1]) rs1569236068
NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly) rs1255344069
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del) rs1285073212
NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys) rs2147285696
NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu) rs1555961470
NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu) rs2519785385
NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg) rs2519785162
NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu) rs2519784470
NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1]) rs1486850638
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1]) rs767258184
NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp) rs2067138677
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu) rs2519784625
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu) rs772859148
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg) rs1569235768
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.2988_2999del (p.993EEGE[2])
NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu) rs2519783552
NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2]) rs2067130298
NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del) rs1555961406
NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del) rs1465232215
NM_001034853.2(RPGR):c.3008_3022dup (p.Glu1007_Glu1008insGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.3009_3026del (p.1001EEGEGE[1])
NM_001034853.2(RPGR):c.3009_3038del (p.Gly1005_Glu1014del)
NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp) rs2067129513
NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del) rs2067129078
NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del) rs748744854
NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys) rs1481259687
NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1]) rs776003342
NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly) rs2147191861
NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del) rs1300993775
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu) rs201134185
NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln) rs1799325384
NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly) rs754860829
NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile) rs2147285611
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1]) rs778085735
NM_001034853.2(RPGR):c.310+3A>G rs62638640
NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del) rs1285695770
NM_001034853.2(RPGR):c.3146A>T (p.Glu1049Val)
NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu) rs866249611
NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del) rs777132996
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp) rs892594567
NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp) rs2519781008
NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg) rs747633561
NM_001034853.2(RPGR):c.3215C>T (p.Thr1072Ile)
NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn) rs1364050231
NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met) rs574644551
NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys) rs2519780048
NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu) rs2519779875
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys) rs12687163
NM_001034853.2(RPGR):c.3396del (p.Asn1132fs) rs2519779790
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter) rs2067111911
NM_001034853.2(RPGR):c.3423G>T (p.Trp1141Cys) rs2067111911
NM_001034853.2(RPGR):c.3430G>C (p.Val1144Leu)
NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser) rs2147280549
NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro) rs2519895122
NM_001034853.2(RPGR):c.354G>C (p.Gln118His) rs2147280538
NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser) rs2519895095
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu) rs2147280505
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe) rs2519894710
NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu) rs2519894661
NM_001034853.2(RPGR):c.41T>A (p.Val14Glu) rs2519912779
NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro) rs2147280274
NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr) rs2519894515
NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile) rs1060501180
NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro) rs2519894426
NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala) rs1315339022
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn) rs751512713
NM_001034853.2(RPGR):c.467C>G (p.Thr156Ser)
NM_001034853.2(RPGR):c.469+4A>G rs2519894326
NM_001034853.2(RPGR):c.482T>G (p.Leu161Arg)
NM_001034853.2(RPGR):c.488T>A (p.Met163Lys) rs2519889411
NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly) rs2519889391
NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr) rs1601972432
NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu) rs779230198
NM_001034853.2(RPGR):c.562A>G (p.Ile188Val) rs2519888929
NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys) rs2519888780
NM_001034853.2(RPGR):c.605C>T (p.Ser202Leu)
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg) rs1555967757
NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile) rs1555967757
NM_001034853.2(RPGR):c.619+5G>A rs62638649
NM_001034853.2(RPGR):c.619+5G>C rs62638649
NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys) rs2519866506
NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp) rs2519866284
NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr) rs760123267
NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg) rs774988145
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp) rs2147291804
NM_001034853.2(RPGR):c.691A>C (p.Asn231His)
NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser) rs2519866092
NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln) rs773408909
NM_001034853.2(RPGR):c.735G>A (p.Val245=) rs2067699104
NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg) rs2519865575
NM_001034853.2(RPGR):c.838C>G (p.Leu280Val)
NM_001034853.2(RPGR):c.865A>C (p.Ile289Leu)
NM_001034853.2(RPGR):c.871A>T (p.Asn291Tyr)
NM_001034853.2(RPGR):c.87A>G (p.Lys29=) rs2519912391
NM_001034853.2(RPGR):c.900T>G (p.Ile300Met) rs2519846833
NM_001034853.2(RPGR):c.928A>T (p.Ile310Leu)
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr) rs2519846634
NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser) rs1220686223
NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly) rs757712647
NM_001034853.2(RPGR):c.972C>G (p.His324Gln) rs771739225
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly) rs1745333319
NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu) rs1561114463
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu) rs1561114448
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg) rs1288969228
NM_001190787.3(MCIDAS):c.1142G>T (p.Arg381Leu)
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile) rs1745327756
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu) rs2111703044
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu) rs1745466454
NM_001190787.3(MCIDAS):c.217+3G>A rs889923610
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp) rs1251186024
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala) rs1745458730
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr) rs115971569
NM_001190787.3(MCIDAS):c.326C>T (p.Thr109Met) rs1484403354
NM_001190787.3(MCIDAS):c.38C>A (p.Ala13Asp) rs1745473127
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly) rs759891799
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro) rs1454466899
NM_001190787.3(MCIDAS):c.597G>C (p.Glu199Asp)
NM_001190787.3(MCIDAS):c.59A>G (p.Asn20Ser) rs1745472814
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu) rs2111692918
NM_001190787.3(MCIDAS):c.607-13T>G rs756023466
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly) rs878854270
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser) rs1554019120
NM_001190787.3(MCIDAS):c.68T>C (p.Leu23Pro) rs1394102512
NM_001190787.3(MCIDAS):c.854G>C (p.Arg285Thr)
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu) rs1207441843
NM_001190787.3(MCIDAS):c.8C>T (p.Ala3Val) rs1268527093
NM_001206927.2(DNAH8):c.10042C>A (p.Gln3348Lys) rs1781220169
NM_001206927.2(DNAH8):c.10042C>G (p.Gln3348Glu) rs1781220169
NM_001206927.2(DNAH8):c.10147A>G (p.Lys3383Glu) rs2533449096
NM_001206927.2(DNAH8):c.10233T>G (p.Phe3411Leu) rs1180672703
NM_001206927.2(DNAH8):c.10286C>T (p.Pro3429Leu) rs1024708882
NM_001206927.2(DNAH8):c.10346A>C (p.Gln3449Pro) rs2533455376
NM_001206927.2(DNAH8):c.10364T>C (p.Ile3455Thr) rs759714537
NM_001206927.2(DNAH8):c.10378G>A (p.Val3460Ile) rs200376058
NM_001206927.2(DNAH8):c.10411G>A (p.Asp3471Asn)
NM_001206927.2(DNAH8):c.10421T>C (p.Phe3474Ser) rs538936217
NM_001206927.2(DNAH8):c.10436A>C (p.Lys3479Thr) rs1781445441
NM_001206927.2(DNAH8):c.10483G>A (p.Ala3495Thr)
NM_001206927.2(DNAH8):c.10501A>G (p.Asn3501Asp) rs2150548095
NM_001206927.2(DNAH8):c.10547G>T (p.Gly3516Val) rs751256547
NM_001206927.2(DNAH8):c.10601A>C (p.Glu3534Ala)
NM_001206927.2(DNAH8):c.10610C>A (p.Ala3537Asp) rs2533477863
NM_001206927.2(DNAH8):c.10624G>T (p.Val3542Leu) rs1316338331
NM_001206927.2(DNAH8):c.10690C>T (p.Arg3564Trp) rs748121138
NM_001206927.2(DNAH8):c.10691G>A (p.Arg3564Gln) rs772835642
NM_001206927.2(DNAH8):c.1070A>G (p.His357Arg) rs1207890931
NM_001206927.2(DNAH8):c.10795G>A (p.Val3599Ile) rs150171166
NM_001206927.2(DNAH8):c.10820G>T (p.Gly3607Val) rs2533499134
NM_001206927.2(DNAH8):c.10832A>T (p.Tyr3611Phe) rs2150561619
NM_001206927.2(DNAH8):c.10896G>T (p.Leu3632Phe)
NM_001206927.2(DNAH8):c.10950G>T (p.Val3650=) rs758150048
NM_001206927.2(DNAH8):c.11045A>T (p.Tyr3682Phe) rs746378835
NM_001206927.2(DNAH8):c.11076C>T (p.Gly3692=) rs1323074664
NM_001206927.2(DNAH8):c.11118+3A>G
NM_001206927.2(DNAH8):c.11119-3del rs757577568
NM_001206927.2(DNAH8):c.1116+4A>T rs2534082547
NM_001206927.2(DNAH8):c.11161G>A (p.Asp3721Asn) rs755050080
NM_001206927.2(DNAH8):c.11162A>G (p.Asp3721Gly) rs2533538879
NM_001206927.2(DNAH8):c.11182C>G (p.Pro3728Ala) rs138016358
NM_001206927.2(DNAH8):c.1124T>A (p.Ile375Asn) rs759866696
NM_001206927.2(DNAH8):c.112A>G (p.Thr38Ala) rs778551218
NM_001206927.2(DNAH8):c.11342C>A (p.Pro3781Gln)
NM_001206927.2(DNAH8):c.11443C>G (p.Leu3815Val)
NM_001206927.2(DNAH8):c.11458-6T>A rs2150585934
NM_001206927.2(DNAH8):c.11476G>T (p.Val3826Phe) rs1782885997
NM_001206927.2(DNAH8):c.11509C>T (p.Arg3837Trp)
NM_001206927.2(DNAH8):c.11572G>A (p.Val3858Ile) rs1783104585
NM_001206927.2(DNAH8):c.11618C>T (p.Thr3873Ile) rs768419092
NM_001206927.2(DNAH8):c.11645A>G (p.His3882Arg) rs1459344355
NM_001206927.2(DNAH8):c.11698C>T (p.Pro3900Ser) rs2150592662
NM_001206927.2(DNAH8):c.11710C>T (p.Arg3904Cys) rs1167415185
NM_001206927.2(DNAH8):c.11722C>T (p.Leu3908Phe)
NM_001206927.2(DNAH8):c.11726A>G (p.Tyr3909Cys) rs373142030
NM_001206927.2(DNAH8):c.11729T>C (p.Phe3910Ser) rs375158290
NM_001206927.2(DNAH8):c.11729T>G (p.Phe3910Cys) rs375158290
NM_001206927.2(DNAH8):c.11747G>A (p.Ser3916Asn) rs2150592878
NM_001206927.2(DNAH8):c.11819C>T (p.Ser3940Phe) rs182335901
NM_001206927.2(DNAH8):c.1182A>T (p.Glu394Asp) rs201355783
NM_001206927.2(DNAH8):c.11855A>G (p.Asn3952Ser) rs762402382
NM_001206927.2(DNAH8):c.11913A>T (p.Glu3971Asp) rs149690655
NM_001206927.2(DNAH8):c.11953A>G (p.Ile3985Val) rs1305810294
NM_001206927.2(DNAH8):c.12011G>A (p.Gly4004Glu) rs1472264977
NM_001206927.2(DNAH8):c.12040C>G (p.Pro4014Ala) rs762008200
NM_001206927.2(DNAH8):c.12043A>G (p.Lys4015Glu) rs2533657095
NM_001206927.2(DNAH8):c.1204A>G (p.Lys402Glu) rs2534104800
NM_001206927.2(DNAH8):c.12053G>A (p.Arg4018His) rs144156671
NM_001206927.2(DNAH8):c.12080A>C (p.Asn4027Thr)
NM_001206927.2(DNAH8):c.12129G>A (p.Gln4043=)
NM_001206927.2(DNAH8):c.12130-3T>G rs2533686527
NM_001206927.2(DNAH8):c.12190A>T (p.Ile4064Phe) rs1583435965
NM_001206927.2(DNAH8):c.12263A>G (p.Asp4088Gly) rs2533701448
NM_001206927.2(DNAH8):c.12269C>T (p.Thr4090Ile) rs1583440880
NM_001206927.2(DNAH8):c.12298G>C (p.Asp4100His) rs1461288589
NM_001206927.2(DNAH8):c.12322G>C (p.Glu4108Gln)
NM_001206927.2(DNAH8):c.12377C>G (p.Pro4126Arg) rs1273805892
NM_001206927.2(DNAH8):c.1241G>C (p.Ser414Thr) rs1218388160
NM_001206927.2(DNAH8):c.12492T>G (p.His4164Gln) rs1763359909
NM_001206927.2(DNAH8):c.12511A>T (p.Met4171Leu) rs1366073824
NM_001206927.2(DNAH8):c.12525+3_12525+4delinsTA rs2533838505
NM_001206927.2(DNAH8):c.12525+5G>A
NM_001206927.2(DNAH8):c.12664A>G (p.Ile4222Val)
NM_001206927.2(DNAH8):c.12671T>C (p.Leu4224Ser) rs1297563537
NM_001206927.2(DNAH8):c.12751A>C (p.Asn4251His) rs968299201
NM_001206927.2(DNAH8):c.12800T>C (p.Leu4267Pro) rs2150696793
NM_001206927.2(DNAH8):c.12854C>G (p.Pro4285Arg) rs1281474390
NM_001206927.2(DNAH8):c.12877G>A (p.Glu4293Lys)
NM_001206927.2(DNAH8):c.12884A>G (p.Asn4295Ser) rs1583501877
NM_001206927.2(DNAH8):c.12952G>T (p.Gly4318Cys) rs1427875858
NM_001206927.2(DNAH8):c.12955G>T (p.Val4319Leu) rs759963989
NM_001206927.2(DNAH8):c.12968C>A (p.Thr4323Lys) rs1537232
NM_001206927.2(DNAH8):c.13067AGA[1] (p.Lys4357del) rs763606080
NM_001206927.2(DNAH8):c.13069A>G (p.Lys4357Glu) rs139250593
NM_001206927.2(DNAH8):c.13176C>A (p.Asn4392Lys) rs2533955416
NM_001206927.2(DNAH8):c.13228A>G (p.Thr4410Ala) rs1380705924
NM_001206927.2(DNAH8):c.1322C>G (p.Thr441Ser) rs2127595057
NM_001206927.2(DNAH8):c.13288G>A (p.Val4430Met) rs1765985930
NM_001206927.2(DNAH8):c.13333A>G (p.Met4445Val) rs1459751204
NM_001206927.2(DNAH8):c.13352C>T (p.Pro4451Leu) rs1173362541
NM_001206927.2(DNAH8):c.13371+4A>G rs1765994363
NM_001206927.2(DNAH8):c.13378T>A (p.Ser4460Thr) rs1488366198
NM_001206927.2(DNAH8):c.13431A>G (p.Gln4477=) rs1766263823
NM_001206927.2(DNAH8):c.13444A>C (p.Met4482Leu) rs1241609542
NM_001206927.2(DNAH8):c.13462A>C (p.Ile4488Leu) rs10484847
NM_001206927.2(DNAH8):c.13469G>A (p.Arg4490His) rs202160082
NM_001206927.2(DNAH8):c.13568C>T (p.Pro4523Leu) rs774127036
NM_001206927.2(DNAH8):c.13608G>A (p.Leu4536=) rs1766286962
NM_001206927.2(DNAH8):c.13622C>A (p.Thr4541Asn) rs2534081344
NM_001206927.2(DNAH8):c.13714+4T>C rs2150773744
NM_001206927.2(DNAH8):c.13715-2dup rs754811596
NM_001206927.2(DNAH8):c.13715-3A>G rs1338748999
NM_001206927.2(DNAH8):c.13753C>T (p.His4585Tyr) rs2534150327
NM_001206927.2(DNAH8):c.13766C>T (p.Ala4589Val) rs2150800992
NM_001206927.2(DNAH8):c.13792G>A (p.Glu4598Lys) rs1554166182
NM_001206927.2(DNAH8):c.137_160del (p.Gly46_Asp53del) rs774952820
NM_001206927.2(DNAH8):c.137_160dup (p.Gly46_Asp53dup) rs774952820
NM_001206927.2(DNAH8):c.13838A>T (p.Glu4613Val) rs375455553
NM_001206927.2(DNAH8):c.13841G>A (p.Gly4614Asp) rs1307894494
NM_001206927.2(DNAH8):c.13944_13945insAAGTTA (p.Val4648_Leu4649insLysLeu) rs1561993508
NM_001206927.2(DNAH8):c.13966T>G (p.Ser4656Ala) rs2534168857
NM_001206927.2(DNAH8):c.14017C>G (p.Pro4673Ala) rs144993102
NM_001206927.2(DNAH8):c.14023C>G (p.Arg4675Gly) rs369355205
NM_001206927.2(DNAH8):c.14024G>A (p.Arg4675Gln)
NM_001206927.2(DNAH8):c.1402G>A (p.Asp468Asn) rs1020386285
NM_001206927.2(DNAH8):c.14060G>C (p.Arg4687Pro) rs907018999
NM_001206927.2(DNAH8):c.1407+3A>G rs1204749351
NM_001206927.2(DNAH8):c.1460A>C (p.His487Pro) rs2127600635
NM_001206927.2(DNAH8):c.1478A>C (p.Tyr493Ser) rs780528860
NM_001206927.2(DNAH8):c.1505T>G (p.Leu502Trp)
NM_001206927.2(DNAH8):c.1515+3A>G rs1765881145
NM_001206927.2(DNAH8):c.155A>G (p.Glu52Gly) rs750174047
NM_001206927.2(DNAH8):c.1592C>T (p.Thr531Met) rs376907315
NM_001206927.2(DNAH8):c.1636A>G (p.Lys546Glu) rs1056745711
NM_001206927.2(DNAH8):c.1648G>A (p.Ala550Thr) rs748375168
NM_001206927.2(DNAH8):c.1669A>C (p.Lys557Gln)
NM_001206927.2(DNAH8):c.1715A>G (p.Glu572Gly) rs2127621449
NM_001206927.2(DNAH8):c.1734A>T (p.Lys578Asn) rs1271183567
NM_001206927.2(DNAH8):c.1806G>T (p.Leu602Phe)
NM_001206927.2(DNAH8):c.1835T>A (p.Ile612Asn) rs1768007169
NM_001206927.2(DNAH8):c.1902AAG[1] (p.Arg636del) rs758494861
NM_001206927.2(DNAH8):c.1946_1948dup (p.Lys649dup) rs2127630927
NM_001206927.2(DNAH8):c.1963G>A (p.Val655Ile) rs1238108829
NM_001206927.2(DNAH8):c.2059C>T (p.Pro687Ser) rs774984318
NM_001206927.2(DNAH8):c.2140-20C>G rs2532348047
NM_001206927.2(DNAH8):c.2185C>T (p.Pro729Ser) rs866179461
NM_001206927.2(DNAH8):c.2189C>G (p.Pro730Arg)
NM_001206927.2(DNAH8):c.2203A>G (p.Ile735Val) rs2127639812
NM_001206927.2(DNAH8):c.2215A>G (p.Arg739Gly) rs1193834845
NM_001206927.2(DNAH8):c.2297C>G (p.Ala766Gly) rs1768796280
NM_001206927.2(DNAH8):c.229C>A (p.His77Asn) rs1357378794
NM_001206927.2(DNAH8):c.229C>T (p.His77Tyr) rs1357378794
NM_001206927.2(DNAH8):c.2362G>T (p.Ala788Ser) rs756762480
NM_001206927.2(DNAH8):c.236C>T (p.Ala79Val) rs1185247828
NM_001206927.2(DNAH8):c.2395G>A (p.Ala799Thr) rs767930161
NM_001206927.2(DNAH8):c.2583+6A>G rs1769216498
NM_001206927.2(DNAH8):c.2623C>T (p.Pro875Ser)
NM_001206927.2(DNAH8):c.2664+7A>T rs1321780574
NM_001206927.2(DNAH8):c.2671T>A (p.Ser891Thr) rs1769598046
NM_001206927.2(DNAH8):c.2765A>G (p.Asn922Ser) rs2532414753
NM_001206927.2(DNAH8):c.2818C>G (p.Leu940Val) rs200401493
NM_001206927.2(DNAH8):c.2822A>G (p.Lys941Arg)
NM_001206927.2(DNAH8):c.2885T>C (p.Met962Thr) rs1251689327
NM_001206927.2(DNAH8):c.2945A>G (p.Lys982Arg) rs2150296679
NM_001206927.2(DNAH8):c.2956G>C (p.Glu986Gln) rs2532500706
NM_001206927.2(DNAH8):c.2996A>T (p.Tyr999Phe) rs944837198
NM_001206927.2(DNAH8):c.2999A>T (p.Glu1000Val) rs1770947275
NM_001206927.2(DNAH8):c.3005A>G (p.Lys1002Arg)
NM_001206927.2(DNAH8):c.3083A>G (p.Asn1028Ser)
NM_001206927.2(DNAH8):c.310C>T (p.Pro104Ser) rs2533985243
NM_001206927.2(DNAH8):c.3155G>T (p.Cys1052Phe) rs373886534
NM_001206927.2(DNAH8):c.3190C>G (p.Leu1064Val) rs2532534669
NM_001206927.2(DNAH8):c.3192A>G (p.Leu1064=) rs781190022
NM_001206927.2(DNAH8):c.319C>G (p.Arg107Gly) rs2127565118
NM_001206927.2(DNAH8):c.3215G>A (p.Arg1072Gln) rs201654193
NM_001206927.2(DNAH8):c.3215G>T (p.Arg1072Leu) rs201654193
NM_001206927.2(DNAH8):c.3232A>G (p.Met1078Val) rs1426079117
NM_001206927.2(DNAH8):c.326C>T (p.Ser109Phe) rs1212995937
NM_001206927.2(DNAH8):c.3344C>T (p.Pro1115Leu) rs754333679
NM_001206927.2(DNAH8):c.340C>T (p.Arg114Trp) rs542057474
NM_001206927.2(DNAH8):c.3548C>T (p.Ala1183Val) rs760404927
NM_001206927.2(DNAH8):c.3575G>A (p.Gly1192Glu)
NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu) rs1772998152
NM_001206927.2(DNAH8):c.3616C>T (p.Leu1206Phe) rs2532635949
NM_001206927.2(DNAH8):c.3625T>C (p.Ser1209Pro) rs2532636016
NM_001206927.2(DNAH8):c.3686C>G (p.Thr1229Ser) rs138719382
NM_001206927.2(DNAH8):c.3689T>C (p.Leu1230Pro) rs2532636751
NM_001206927.2(DNAH8):c.3706G>A (p.Asp1236Asn) rs201420305
NM_001206927.2(DNAH8):c.3713A>T (p.Lys1238Ile)
NM_001206927.2(DNAH8):c.3773A>G (p.His1258Arg) rs1773065752
NM_001206927.2(DNAH8):c.3776A>G (p.Tyr1259Cys)
NM_001206927.2(DNAH8):c.3848-3C>G rs1053217536
NM_001206927.2(DNAH8):c.390+5G>C rs2533986372
NM_001206927.2(DNAH8):c.4004A>G (p.Asp1335Gly)
NM_001206927.2(DNAH8):c.4036A>G (p.Ile1346Val) rs1184830557
NM_001206927.2(DNAH8):c.4096A>G (p.Ile1366Val) rs2532681222
NM_001206927.2(DNAH8):c.4189-3T>C rs2532715199
NM_001206927.2(DNAH8):c.4235G>A (p.Ser1412Asn) rs1204156273
NM_001206927.2(DNAH8):c.4244T>C (p.Leu1415Pro) rs1367556893
NM_001206927.2(DNAH8):c.4345A>C (p.Asn1449His) rs2532735572
NM_001206927.2(DNAH8):c.4354C>A (p.Gln1452Lys) rs1774128346
NM_001206927.2(DNAH8):c.4375G>T (p.Asp1459Tyr) rs151175737
NM_001206927.2(DNAH8):c.4399A>G (p.Thr1467Ala) rs2150363702
NM_001206927.2(DNAH8):c.4543A>G (p.Ile1515Val) rs1554226304
NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu) rs375507271
NM_001206927.2(DNAH8):c.4641A>C (p.Gln1547His) rs1294833717
NM_001206927.2(DNAH8):c.4700A>C (p.Glu1567Ala) rs1774924293
NM_001206927.2(DNAH8):c.4748C>G (p.Ser1583Cys) rs2532807778
NM_001206927.2(DNAH8):c.4835A>G (p.Asp1612Gly) rs375356688
NM_001206927.2(DNAH8):c.4842T>G (p.Ile1614Met) rs2532809388
NM_001206927.2(DNAH8):c.4847A>G (p.Asp1616Gly) rs943252271
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val) rs943252271
NM_001206927.2(DNAH8):c.4916C>T (p.Thr1639Ile) rs1209612162
NM_001206927.2(DNAH8):c.497T>A (p.Val166Asp) rs374691452
NM_001206927.2(DNAH8):c.5045+3A>G rs2532836500
NM_001206927.2(DNAH8):c.5076G>T (p.Gln1692His)
NM_001206927.2(DNAH8):c.5140C>G (p.Leu1714Val) rs1060501470
NM_001206927.2(DNAH8):c.517T>C (p.Cys173Arg) rs2533988786
NM_001206927.2(DNAH8):c.5237T>A (p.Ile1746Lys) rs762401941
NM_001206927.2(DNAH8):c.5381G>A (p.Arg1794Gln) rs746134358
NM_001206927.2(DNAH8):c.5410T>A (p.Ser1804Thr) rs1775753073
NM_001206927.2(DNAH8):c.5446A>G (p.Ser1816Gly) rs2150389160
NM_001206927.2(DNAH8):c.5468C>A (p.Pro1823Gln) rs201197291
NM_001206927.2(DNAH8):c.5515G>A (p.Ala1839Thr) rs756190655
NM_001206927.2(DNAH8):c.5561A>G (p.Glu1854Gly) rs1775863611
NM_001206927.2(DNAH8):c.5571_5571+2del rs777057945
NM_001206927.2(DNAH8):c.5572-19_5572-18delinsTA rs2532910461
NM_001206927.2(DNAH8):c.5702T>C (p.Leu1901Pro) rs2150392730
NM_001206927.2(DNAH8):c.5707C>G (p.Pro1903Ala) rs759612322
NM_001206927.2(DNAH8):c.5734-10G>A rs2532948417
NM_001206927.2(DNAH8):c.5740C>T (p.Leu1914Phe) rs1467448925
NM_001206927.2(DNAH8):c.5768_5769delinsTT (p.His1923Leu) rs2532948966
NM_001206927.2(DNAH8):c.5769C>A (p.His1923Gln) rs2061907
NM_001206927.2(DNAH8):c.5770G>A (p.Asp1924Asn) rs267601015
NM_001206927.2(DNAH8):c.5821G>A (p.Val1941Met) rs2150401217
NM_001206927.2(DNAH8):c.5828A>T (p.Asn1943Ile) rs556109331
NM_001206927.2(DNAH8):c.5993A>C (p.Glu1998Ala)
NM_001206927.2(DNAH8):c.610+4A>G
NM_001206927.2(DNAH8):c.611A>G (p.Glu204Gly)
NM_001206927.2(DNAH8):c.619C>G (p.Arg207Gly) rs776176679
NM_001206927.2(DNAH8):c.6214A>G (p.Thr2072Ala) rs2532992058
NM_001206927.2(DNAH8):c.6239T>C (p.Leu2080Ser) rs1776704936
NM_001206927.2(DNAH8):c.6288A>C (p.Arg2096Ser) rs2532993172
NM_001206927.2(DNAH8):c.6325G>T (p.Gly2109Cys) rs748575207
NM_001206927.2(DNAH8):c.6367C>T (p.Pro2123Ser)
NM_001206927.2(DNAH8):c.6401T>G (p.Ile2134Ser) rs1776841560
NM_001206927.2(DNAH8):c.6421G>A (p.Glu2141Lys) rs2533008903
NM_001206927.2(DNAH8):c.6433_6434delinsAG (p.Gln2145Arg) rs2150413656
NM_001206927.2(DNAH8):c.6494C>T (p.Thr2165Met) rs199517916
NM_001206927.2(DNAH8):c.654G>A (p.Met218Ile) rs750965126
NM_001206927.2(DNAH8):c.6601A>C (p.Lys2201Gln) rs2150418898
NM_001206927.2(DNAH8):c.665A>G (p.Tyr222Cys) rs753974456
NM_001206927.2(DNAH8):c.668T>C (p.Ile223Thr) rs1554195443
NM_001206927.2(DNAH8):c.6695T>G (p.Val2232Gly) rs2533047773
NM_001206927.2(DNAH8):c.670G>A (p.Asp224Asn) rs1009197625
NM_001206927.2(DNAH8):c.6721A>G (p.Ile2241Val) rs1563049849
NM_001206927.2(DNAH8):c.6887A>G (p.Gln2296Arg) rs1777382079
NM_001206927.2(DNAH8):c.68C>A (p.Ala23Asp) rs1471622411
NM_001206927.2(DNAH8):c.6950G>A (p.Gly2317Asp) rs1307310167
NM_001206927.2(DNAH8):c.6968C>T (p.Pro2323Leu) rs1034546923
NM_001206927.2(DNAH8):c.6985G>T (p.Val2329Leu) rs143397128
NM_001206927.2(DNAH8):c.6990+6G>T
NM_001206927.2(DNAH8):c.6994T>C (p.Tyr2332His) rs1777546567
NM_001206927.2(DNAH8):c.6G>C (p.Glu2Asp) rs774924483
NM_001206927.2(DNAH8):c.7096G>A (p.Gly2366Arg) rs549318995
NM_001206927.2(DNAH8):c.7096G>C (p.Gly2366Arg) rs549318995
NM_001206927.2(DNAH8):c.7165G>A (p.Asp2389Asn) rs2533091416
NM_001206927.2(DNAH8):c.7177A>C (p.Asn2393His) rs377740147
NM_001206927.2(DNAH8):c.7303G>A (p.Val2435Ile) rs749048233
NM_001206927.2(DNAH8):c.7417G>A (p.Val2473Ile)
NM_001206927.2(DNAH8):c.7421C>G (p.Ser2474Cys)
NM_001206927.2(DNAH8):c.7532A>T (p.Tyr2511Phe) rs1191463357
NM_001206927.2(DNAH8):c.7536G>C (p.Glu2512Asp) rs368018225
NM_001206927.2(DNAH8):c.7576C>A (p.Leu2526Ile) rs1253294161
NM_001206927.2(DNAH8):c.7615G>A (p.Val2539Met) rs2533101413
NM_001206927.2(DNAH8):c.7664G>A (p.Gly2555Asp) rs1457561714
NM_001206927.2(DNAH8):c.7670T>A (p.Val2557Asp) rs2533136229
NM_001206927.2(DNAH8):c.7678G>A (p.Val2560Ile) rs1777940777
NM_001206927.2(DNAH8):c.775A>C (p.Thr259Pro) rs2127581124
NM_001206927.2(DNAH8):c.7791G>C (p.Lys2597Asn) rs1554124713
NM_001206927.2(DNAH8):c.7832T>A (p.Met2611Lys) rs2150445794
NM_001206927.2(DNAH8):c.7882A>G (p.Lys2628Glu)
NM_001206927.2(DNAH8):c.788C>T (p.Ala263Val) rs145115573
NM_001206927.2(DNAH8):c.7894TAT[2] (p.Tyr2634del) rs1583267887
NM_001206927.2(DNAH8):c.7917T>G (p.Ile2639Met) rs1778621245
NM_001206927.2(DNAH8):c.7961G>C (p.Arg2654Thr) rs1778625788
NM_001206927.2(DNAH8):c.7996C>T (p.His2666Tyr) rs1348383754
NM_001206927.2(DNAH8):c.799C>G (p.Leu267Val) rs1764158324
NM_001206927.2(DNAH8):c.8130_8132del (p.Met2710_Phe2711delinsIle) rs2533205929
NM_001206927.2(DNAH8):c.8156T>C (p.Val2719Ala) rs1778706363
NM_001206927.2(DNAH8):c.8175C>A (p.Ser2725Arg) rs1488192188
NM_001206927.2(DNAH8):c.8354T>A (p.Leu2785His)
NM_001206927.2(DNAH8):c.8387G>T (p.Arg2796Leu) rs576946348
NM_001206927.2(DNAH8):c.8467A>C (p.Ile2823Leu) rs1778977301
NM_001206927.2(DNAH8):c.8500C>T (p.Pro2834Ser) rs760626246
NM_001206927.2(DNAH8):c.8621T>A (p.Ile2874Asn) rs1554129791
NM_001206927.2(DNAH8):c.8633G>A (p.Arg2878Gln)
NM_001206927.2(DNAH8):c.8638C>T (p.Leu2880Phe) rs2533293381
NM_001206927.2(DNAH8):c.872C>A (p.Ala291Asp) rs371250738
NM_001206927.2(DNAH8):c.872C>T (p.Ala291Val) rs371250738
NM_001206927.2(DNAH8):c.881A>C (p.Gln294Pro) rs1764167267
NM_001206927.2(DNAH8):c.8831C>T (p.Ser2944Leu)
NM_001206927.2(DNAH8):c.8940+7A>C
NM_001206927.2(DNAH8):c.8958T>A (p.Phe2986Leu) rs2533317994
NM_001206927.2(DNAH8):c.895G>C (p.Glu299Gln) rs1307039134
NM_001206927.2(DNAH8):c.9007A>G (p.Arg3003Gly) rs1554130647
NM_001206927.2(DNAH8):c.9083C>T (p.Thr3028Met)
NM_001206927.2(DNAH8):c.9175T>C (p.Phe3059Leu) rs2533328237
NM_001206927.2(DNAH8):c.9194+4G>C rs1397795512
NM_001206927.2(DNAH8):c.9211A>G (p.Asn3071Asp) rs1212760869
NM_001206927.2(DNAH8):c.9212A>G (p.Asn3071Ser) rs1561844607
NM_001206927.2(DNAH8):c.9266G>C (p.Gly3089Ala) rs1561844745
NM_001206927.2(DNAH8):c.9290G>A (p.Ser3097Asn)
NM_001206927.2(DNAH8):c.9301G>T (p.Asp3101Tyr) rs2150520538
NM_001206927.2(DNAH8):c.9333G>C (p.Leu3111Phe) rs968838351
NM_001206927.2(DNAH8):c.9333G>T (p.Leu3111Phe)
NM_001206927.2(DNAH8):c.938T>G (p.Leu313Arg) rs1764173249
NM_001206927.2(DNAH8):c.9412A>C (p.Lys3138Gln)
NM_001206927.2(DNAH8):c.9536G>A (p.Arg3179His) rs747689932
NM_001206927.2(DNAH8):c.953G>T (p.Gly318Val) rs567584262
NM_001206927.2(DNAH8):c.9671G>T (p.Arg3224Ile) rs775998449
NM_001206927.2(DNAH8):c.9719G>A (p.Ser3240Asn) rs1583326923
NM_001206927.2(DNAH8):c.9740+4_9740+10del rs773097842
NM_001206927.2(DNAH8):c.976A>C (p.Thr326Pro)
NM_001206927.2(DNAH8):c.9818A>G (p.Lys3273Arg)
NM_001206927.2(DNAH8):c.983A>G (p.Lys328Arg) rs1582867594
NM_001206927.2(DNAH8):c.9860-9T>A rs1781091922
NM_001256715.2(DNAAF3):c.-2T>C rs751817551
NM_001256715.2(DNAAF3):c.-4G>C
NM_001256715.2(DNAAF3):c.-67C>T rs2085943148
NM_001256715.2(DNAAF3):c.-7A>G rs2147311994
NM_001256715.2(DNAAF3):c.-9T>C
NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg) rs543007128
NM_001256715.2(DNAAF3):c.1036C>T (p.Pro346Ser) rs764321844
NM_001256715.2(DNAAF3):c.1041_1048+1del rs767677564
NM_001256715.2(DNAAF3):c.1061C>T (p.Pro354Leu)
NM_001256715.2(DNAAF3):c.1111C>T (p.His371Tyr) rs2085791092
NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln) rs771791101
NM_001256715.2(DNAAF3):c.126C>A (p.His42Gln) rs2515545477
NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys) rs1378586132
NM_001256715.2(DNAAF3):c.133C>T (p.Pro45Ser)
NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr) rs546293010
NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala) rs1234177840
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp) rs372161739
NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr) rs2085774021
NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln) rs2515510425
NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs) rs878854280
NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu) rs2147290092
NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg) rs1568861889
NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His) rs1448187041
NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His) rs751901961
NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr) rs1599916173
NM_001256715.2(DNAAF3):c.1460A>T (p.Asn487Ile)
NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg) rs1599916117
NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs) rs1258490043
NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His) rs2515510019
NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu) rs757426979
NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser) rs751749516
NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr) rs758688329
NM_001256715.2(DNAAF3):c.1618G>A (p.Gly540Arg)
NM_001256715.2(DNAAF3):c.172C>G (p.Arg58Gly) rs1205985038
NM_001256715.2(DNAAF3):c.178C>G (p.Leu60Val)
NM_001256715.2(DNAAF3):c.212C>G (p.Pro71Arg) rs755945019
NM_001256715.2(DNAAF3):c.228+17A>G rs2515544821
NM_001256715.2(DNAAF3):c.245A>C (p.Asn82Thr) rs2515542983
NM_001256715.2(DNAAF3):c.262G>A (p.Ala88Thr) rs1568868472
NM_001256715.2(DNAAF3):c.357C>G (p.Asn119Lys) rs1165524335
NM_001256715.2(DNAAF3):c.359C>T (p.Ala120Val) rs2515529745
NM_001256715.2(DNAAF3):c.377T>G (p.Val126Gly) rs2515529605
NM_001256715.2(DNAAF3):c.380C>G (p.Ala127Gly) rs1422887369
NM_001256715.2(DNAAF3):c.382G>A (p.Ala128Thr) rs1599923566
NM_001256715.2(DNAAF3):c.40G>C (p.Val14Leu) rs776426860
NM_001256715.2(DNAAF3):c.473C>T (p.Ala158Val) rs2515528932
NM_001256715.2(DNAAF3):c.480+5C>T rs757597159
NM_001256715.2(DNAAF3):c.481-3C>G rs1599922783
NM_001256715.2(DNAAF3):c.485G>T (p.Arg162Leu) rs1060502832
NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp) rs763784422
NM_001256715.2(DNAAF3):c.491G>T (p.Arg164Leu) rs771839338
NM_001256715.2(DNAAF3):c.587delinsTGGG (p.His196delinsLeuGly) rs2085838084
NM_001256715.2(DNAAF3):c.650T>A (p.Leu217Gln) rs2147297566
NM_001256715.2(DNAAF3):c.659_660delinsTT (p.Arg220Leu) rs2085835582
NM_001256715.2(DNAAF3):c.664-2_681dup rs2515523815
NM_001256715.2(DNAAF3):c.665C>A (p.Ala222Asp) rs866731630
NM_001256715.2(DNAAF3):c.704A>C (p.Asp235Ala) rs1025793670
NM_001256715.2(DNAAF3):c.712G>A (p.Val238Ile) rs1380206004
NM_001256715.2(DNAAF3):c.730G>T (p.Asp244Tyr) rs1461569802
NM_001256715.2(DNAAF3):c.739G>A (p.Ala247Thr) rs2085827314
NM_001256715.2(DNAAF3):c.767C>G (p.Ala256Gly) rs201937522
NM_001256715.2(DNAAF3):c.775C>T (p.Arg259Cys) rs765974072
NM_001256715.2(DNAAF3):c.789+5G>C rs376485677
NM_001256715.2(DNAAF3):c.826G>A (p.Asp276Asn) rs1353927924
NM_001256715.2(DNAAF3):c.826G>C (p.Asp276His) rs1353927924
NM_001256715.2(DNAAF3):c.85+3G>C rs1241133548
NM_001256715.2(DNAAF3):c.86-28G>A rs2085932710
NM_001256715.2(DNAAF3):c.86-57C>A rs2515545929
NM_001256715.2(DNAAF3):c.871G>A (p.Asp291Asn) rs2085820367
NM_001256715.2(DNAAF3):c.912+4C>A rs2085819392
NM_001256715.2(DNAAF3):c.912+5G>A rs1037483400
NM_001256715.2(DNAAF3):c.913-18C>G
NM_001256715.2(DNAAF3):c.914C>A (p.Thr305Lys) rs964668148
NM_001256715.2(DNAAF3):c.915G>A (p.Thr305=) rs886054640
NM_001277115.2(DNAH11):c.10019A>C (p.Lys3340Thr) rs1788333100
NM_001277115.2(DNAH11):c.10051C>G (p.Leu3351Val) rs376710623
NM_001277115.2(DNAH11):c.10072G>A (p.Ala3358Thr)
NM_001277115.2(DNAH11):c.10075A>G (p.Thr3359Ala) rs754609932
NM_001277115.2(DNAH11):c.10079C>T (p.Ala3360Val)
NM_001277115.2(DNAH11):c.10103A>T (p.Glu3368Val) rs1788977486
NM_001277115.2(DNAH11):c.10154A>T (p.Glu3385Val) rs2535310896
NM_001277115.2(DNAH11):c.10165+6A>T rs757987495
NM_001277115.2(DNAH11):c.10186T>C (p.Ser3396Pro) rs1583718488
NM_001277115.2(DNAH11):c.10189A>C (p.Ile3397Leu) rs2535331151
NM_001277115.2(DNAH11):c.10276A>G (p.Arg3426Gly) rs1562558499
NM_001277115.2(DNAH11):c.10301A>C (p.His3434Pro) rs754773184
NM_001277115.2(DNAH11):c.10307A>G (p.Lys3436Arg) rs2535331739
NM_001277115.2(DNAH11):c.10318T>G (p.Phe3440Val) rs1341470435
NM_001277115.2(DNAH11):c.1032A>T (p.Arg344Ser) rs1322188587
NM_001277115.2(DNAH11):c.10332G>A (p.Lys3444=) rs1243329120
NM_001277115.2(DNAH11):c.10381G>A (p.Asp3461Asn) rs1789799061
NM_001277115.2(DNAH11):c.10478C>T (p.Pro3493Leu) rs1789804608
NM_001277115.2(DNAH11):c.10480C>G (p.Leu3494Val) rs1789804697
NM_001277115.2(DNAH11):c.10568G>T (p.Gly3523Val) rs1223461836
NM_001277115.2(DNAH11):c.106GAG[6] (p.Glu40_Asn41insGlu) rs754826899
NM_001277115.2(DNAH11):c.10761G>T (p.Leu3587Phe) rs1467510424
NM_001277115.2(DNAH11):c.10762G>T (p.Ala3588Ser) rs748428041
NM_001277115.2(DNAH11):c.10767T>A (p.Asn3589Lys) rs2535433868
NM_001277115.2(DNAH11):c.10775A>G (p.Tyr3592Cys) rs1060503062
NM_001277115.2(DNAH11):c.10781C>A (p.Pro3594Gln) rs770336845
NM_001277115.2(DNAH11):c.10793C>G (p.Ala3598Gly) rs911976426
NM_001277115.2(DNAH11):c.10801A>G (p.Thr3601Ala) rs1418505953
NM_001277115.2(DNAH11):c.10912C>T (p.His3638Tyr) rs776111425
NM_001277115.2(DNAH11):c.10920T>G (p.Asn3640Lys) rs1583773726
NM_001277115.2(DNAH11):c.10948G>A (p.Glu3650Lys) rs1382616171
NM_001277115.2(DNAH11):c.10951G>T (p.Asp3651Tyr) rs2535463980
NM_001277115.2(DNAH11):c.11065A>G (p.Ile3689Val) rs1554288889
NM_001277115.2(DNAH11):c.11113T>C (p.Tyr3705His) rs1562585554
NM_001277115.2(DNAH11):c.11117G>A (p.Arg3706Lys) rs1562585559
NM_001277115.2(DNAH11):c.11164C>T (p.Leu3722Phe) rs2128025450
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe) rs727502970
NM_001277115.2(DNAH11):c.11221C>T (p.His3741Tyr) rs1783075514
NM_001277115.2(DNAH11):c.11272T>G (p.Ser3758Ala) rs17145720
NM_001277115.2(DNAH11):c.1131T>G (p.Phe377Leu) rs2534496278
NM_001277115.2(DNAH11):c.11443A>G (p.Thr3815Ala) rs1583787940
NM_001277115.2(DNAH11):c.11489C>T (p.Ala3830Val) rs1384924530
NM_001277115.2(DNAH11):c.11522G>A (p.Arg3841Gln) rs1783284710
NM_001277115.2(DNAH11):c.11662C>A (p.Arg3888Ser)
NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His) rs72658812
NM_001277115.2(DNAH11):c.11681A>G (p.Tyr3894Cys)
NM_001277115.2(DNAH11):c.11683G>C (p.Ala3895Pro) rs1203128467
NM_001277115.2(DNAH11):c.11690+6G>A rs2535506185
NM_001277115.2(DNAH11):c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu) rs1409783994
NM_001277115.2(DNAH11):c.11725G>T (p.Val3909Leu) rs886062185
NM_001277115.2(DNAH11):c.11735C>G (p.Thr3912Ser) rs372135937
NM_001277115.2(DNAH11):c.11790C>A (p.Phe3930Leu) rs2534034298
NM_001277115.2(DNAH11):c.11847A>C (p.Arg3949Ser) rs2128035660
NM_001277115.2(DNAH11):c.11874A>G (p.Lys3958=) rs756561500
NM_001277115.2(DNAH11):c.11879A>C (p.His3960Pro) rs2534038436
NM_001277115.2(DNAH11):c.11908A>T (p.Thr3970Ser) rs974613459
NM_001277115.2(DNAH11):c.1194+6_1194+8del rs752748339
NM_001277115.2(DNAH11):c.1194G>A (p.Gln398=) rs2534496734
NM_001277115.2(DNAH11):c.11951A>C (p.His3984Pro) rs1783392419
NM_001277115.2(DNAH11):c.11965C>G (p.Gln3989Glu) rs2534038850
NM_001277115.2(DNAH11):c.11968-4T>C
NM_001277115.2(DNAH11):c.11999C>T (p.Thr4000Ile) rs1783570244
NM_001277115.2(DNAH11):c.12031G>A (p.Gly4011Arg)
NM_001277115.2(DNAH11):c.12134C>G (p.Thr4045Ser)
NM_001277115.2(DNAH11):c.12151G>C (p.Gly4051Arg)
NM_001277115.2(DNAH11):c.12168G>C (p.Leu4056Phe) rs1783577185
NM_001277115.2(DNAH11):c.121_129dup (p.Asn41_Glu43dup) rs1583467731
NM_001277115.2(DNAH11):c.121_132dup (p.Glu44_Ala45insAsnGluGluGlu)
NM_001277115.2(DNAH11):c.12262C>T (p.His4088Tyr) rs1229709690
NM_001277115.2(DNAH11):c.12293G>A (p.Gly4098Asp) rs1583806980
NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu) rs573509767
NM_001277115.2(DNAH11):c.12352A>G (p.Ser4118Gly) rs1783899391
NM_001277115.2(DNAH11):c.12387+4A>C rs1783901380
NM_001277115.2(DNAH11):c.12456G>T (p.Trp4152Cys) rs1339128502
NM_001277115.2(DNAH11):c.12475G>T (p.Val4159Leu) rs771944678
NM_001277115.2(DNAH11):c.12499C>G (p.Pro4167Ala) rs763179225
NM_001277115.2(DNAH11):c.12592A>G (p.Met4198Val)
NM_001277115.2(DNAH11):c.125AGG[2] (p.Glu44del) rs1782659889
NM_001277115.2(DNAH11):c.12619T>C (p.Tyr4207His) rs1562607173
NM_001277115.2(DNAH11):c.12788C>T (p.Pro4263Leu) rs1583820467
NM_001277115.2(DNAH11):c.12791A>G (p.Glu4264Gly) rs1784443582
NM_001277115.2(DNAH11):c.127G>A (p.Glu43Lys) rs1583467748
NM_001277115.2(DNAH11):c.127G>C (p.Glu43Gln) rs1583467748
NM_001277115.2(DNAH11):c.12813A>G (p.Ile4271Met) rs1422905532
NM_001277115.2(DNAH11):c.12817C>G (p.Gln4273Glu) rs2534130101
NM_001277115.2(DNAH11):c.12833G>A (p.Arg4278Lys)
NM_001277115.2(DNAH11):c.12836G>T (p.Ser4279Ile) rs1784445668
NM_001277115.2(DNAH11):c.12838C>T (p.Pro4280Ser)
NM_001277115.2(DNAH11):c.12889C>T (p.Arg4297Trp)
NM_001277115.2(DNAH11):c.12934-2del rs1784452809
NM_001277115.2(DNAH11):c.1296C>A (p.Asn432Lys) rs1783828997
NM_001277115.2(DNAH11):c.12986A>T (p.Tyr4329Phe) rs1562608827
NM_001277115.2(DNAH11):c.1298C>T (p.Ser433Phe) rs1783829075
NM_001277115.2(DNAH11):c.12997C>T (p.Pro4333Ser) rs753970328
NM_001277115.2(DNAH11):c.13049+3A>G
NM_001277115.2(DNAH11):c.13112C>A (p.Pro4371Gln) rs1238638659
NM_001277115.2(DNAH11):c.1312A>G (p.Arg438Gly) rs2534519866
NM_001277115.2(DNAH11):c.13163-27_13163-11del
NM_001277115.2(DNAH11):c.13163C>T (p.Ala4388Val) rs1060503058
NM_001277115.2(DNAH11):c.13186A>C (p.Lys4396Gln) rs569092902
NM_001277115.2(DNAH11):c.13199C>T (p.Pro4400Leu) rs2128052334
NM_001277115.2(DNAH11):c.13211C>A (p.Thr4404Lys) rs768366183
NM_001277115.2(DNAH11):c.13223C>A (p.Ala4408Asp)
NM_001277115.2(DNAH11):c.13247A>T (p.Glu4416Val) rs2128052383
NM_001277115.2(DNAH11):c.13261C>A (p.Pro4421Thr) rs369210437
NM_001277115.2(DNAH11):c.13263_13265del (p.Pro4422del) rs1784704513
NM_001277115.2(DNAH11):c.13278A>G (p.Ala4426=) rs773266815
NM_001277115.2(DNAH11):c.13303+3_13303+6dup rs2534155156
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys) rs1044815255
NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly) rs2534163446
NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile) rs760133325
NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly) rs576958149
NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu) rs1375156859
NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser) rs370940025
NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys) rs751222708
NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser) rs1784797805
NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu) rs1467862243
NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del) rs1554294443
NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr) rs2534165208
NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly) rs1784802858
NM_001277115.2(DNAH11):c.13472_*75dup (p.Ile4491_Ter4517=) rs1784806477
NM_001277115.2(DNAH11):c.13473C>G (p.Ile4491Met) rs1784806581
NM_001277115.2(DNAH11):c.13473_*75dup (p.Tyr4490_Ter4517=) rs878854439
NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys) rs2534165883
NM_001277115.2(DNAH11):c.13482C>G (p.Phe4494Leu) rs370038827
NM_001277115.2(DNAH11):c.13515_13526dup (p.Val4510_Ala4511insLeuAlaGlyVal) rs1254126467
NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla) rs1784815114
NM_001277115.2(DNAH11):c.13531G>A (p.Ala4511Thr) rs1562614917
NM_001277115.2(DNAH11):c.1357T>C (p.Trp453Arg) rs1783831153
NM_001277115.2(DNAH11):c.136G>C (p.Ala46Pro) rs918116615
NM_001277115.2(DNAH11):c.1375C>G (p.Leu459Val) rs547976947
NM_001277115.2(DNAH11):c.1414A>G (p.Ile472Val) rs1783833988
NM_001277115.2(DNAH11):c.1425G>A (p.Glu475=) rs2128436389
NM_001277115.2(DNAH11):c.1427A>G (p.Asp476Gly) rs1028226024
NM_001277115.2(DNAH11):c.1438A>C (p.Thr480Pro) rs763939941
NM_001277115.2(DNAH11):c.1442C>T (p.Thr481Ile) rs1583491099
NM_001277115.2(DNAH11):c.1534A>C (p.Met512Leu) rs1783906157
NM_001277115.2(DNAH11):c.1609T>G (p.Tyr537Asp) rs1784321972
NM_001277115.2(DNAH11):c.1610A>C (p.Tyr537Ser) rs2534563628
NM_001277115.2(DNAH11):c.1708A>G (p.Lys570Glu) rs2128440942
NM_001277115.2(DNAH11):c.1771C>A (p.His591Asn) rs1583505393
NM_001277115.2(DNAH11):c.1790A>C (p.His597Pro) rs1207221088
NM_001277115.2(DNAH11):c.1790A>T (p.His597Leu) rs1207221088
NM_001277115.2(DNAH11):c.1822C>G (p.Gln608Glu) rs2534583899
NM_001277115.2(DNAH11):c.1888T>C (p.Phe630Leu) rs1583505808
NM_001277115.2(DNAH11):c.1916A>T (p.Gln639Leu) rs12670130
NM_001277115.2(DNAH11):c.200C>A (p.Ala67Glu)
NM_001277115.2(DNAH11):c.2033T>G (p.Leu678Trp) rs1784591318
NM_001277115.2(DNAH11):c.2060A>T (p.Tyr687Phe) rs372935096
NM_001277115.2(DNAH11):c.2075G>T (p.Ser692Ile) rs528619219
NM_001277115.2(DNAH11):c.2113C>A (p.Pro705Thr) rs1784594376
NM_001277115.2(DNAH11):c.2118G>C (p.Leu706Phe) rs1784594733
NM_001277115.2(DNAH11):c.2143C>T (p.Leu715Phe) rs2128443046
NM_001277115.2(DNAH11):c.2169+6G>T rs761214072
NM_001277115.2(DNAH11):c.2179G>A (p.Val727Ile)
NM_001277115.2(DNAH11):c.2278A>T (p.Ile760Phe) rs768205792
NM_001277115.2(DNAH11):c.227A>G (p.Lys76Arg) rs2128424849
NM_001277115.2(DNAH11):c.2314A>C (p.Lys772Gln) rs2128443616
NM_001277115.2(DNAH11):c.2315A>C (p.Lys772Thr) rs1489275422
NM_001277115.2(DNAH11):c.2338G>A (p.Val780Ile) rs1369057542
NM_001277115.2(DNAH11):c.234C>G (p.Ser78Arg) rs1487726993
NM_001277115.2(DNAH11):c.239A>G (p.Tyr80Cys) rs2128424856
NM_001277115.2(DNAH11):c.2452G>C (p.Ala818Pro) rs1554316504
NM_001277115.2(DNAH11):c.2471A>T (p.Glu824Val) rs2534598685
NM_001277115.2(DNAH11):c.2486G>C (p.Arg829Pro) rs201261243
NM_001277115.2(DNAH11):c.2516A>T (p.Gln839Leu) rs2128443723
NM_001277115.2(DNAH11):c.2542G>T (p.Val848Leu) rs80328282
NM_001277115.2(DNAH11):c.2597A>G (p.Lys866Arg) rs1429419142
NM_001277115.2(DNAH11):c.2598G>C (p.Lys866Asn) rs1784687735
NM_001277115.2(DNAH11):c.2629A>G (p.Ile877Val) rs2128443771
NM_001277115.2(DNAH11):c.2662G>C (p.Val888Leu) rs1295846959
NM_001277115.2(DNAH11):c.2784C>G (p.Asp928Glu)
NM_001277115.2(DNAH11):c.283G>C (p.Glu95Gln) rs1380410361
NM_001277115.2(DNAH11):c.2907C>A (p.Phe969Leu) rs777691425
NM_001277115.2(DNAH11):c.2984A>C (p.Glu995Ala) rs2128446711
NM_001277115.2(DNAH11):c.3000+4T>C rs1785020067
NM_001277115.2(DNAH11):c.3061G>A (p.Val1021Met)
NM_001277115.2(DNAH11):c.3095A>G (p.Asn1032Ser) rs1583517157
NM_001277115.2(DNAH11):c.3141G>C (p.Glu1047Asp) rs1049088648
NM_001277115.2(DNAH11):c.3143T>C (p.Phe1048Ser) rs978150323
NM_001277115.2(DNAH11):c.3175G>C (p.Val1059Leu)
NM_001277115.2(DNAH11):c.3196G>A (p.Ala1066Thr) rs1785056678
NM_001277115.2(DNAH11):c.319G>A (p.Ala107Thr) rs1161522667
NM_001277115.2(DNAH11):c.3271G>A (p.Ala1091Thr)
NM_001277115.2(DNAH11):c.3325T>C (p.Phe1109Leu) rs2128447080
NM_001277115.2(DNAH11):c.3330G>T (p.Lys1110Asn) rs1285979781
NM_001277115.2(DNAH11):c.3365C>T (p.Thr1122Ile) rs878854442
NM_001277115.2(DNAH11):c.3388A>G (p.Met1130Val) rs2128447106
NM_001277115.2(DNAH11):c.3458C>T (p.Thr1153Ile) rs2534635440
NM_001277115.2(DNAH11):c.3495_3496delinsAT (p.Asp1165_His1166delinsGluTyr) rs2128447235
NM_001277115.2(DNAH11):c.34G>C (p.Asp12His)
NM_001277115.2(DNAH11):c.351+6A>T rs1782674510
NM_001277115.2(DNAH11):c.3530T>C (p.Leu1177Pro) rs2534636029
NM_001277115.2(DNAH11):c.3532G>A (p.Ala1178Thr) rs1248235821
NM_001277115.2(DNAH11):c.3574C>G (p.Pro1192Ala)
NM_001277115.2(DNAH11):c.3623C>G (p.Pro1208Arg) rs1060503057
NM_001277115.2(DNAH11):c.3647A>C (p.Glu1216Ala) rs1016978531
NM_001277115.2(DNAH11):c.3648+5G>T rs750834005
NM_001277115.2(DNAH11):c.3734C>T (p.Thr1245Ile) rs1477380706
NM_001277115.2(DNAH11):c.3765+6C>G
NM_001277115.2(DNAH11):c.380T>C (p.Val127Ala) rs1583469159
NM_001277115.2(DNAH11):c.3836A>T (p.Tyr1279Phe) rs1785301833
NM_001277115.2(DNAH11):c.3842C>G (p.Ala1281Gly) rs770365463
NM_001277115.2(DNAH11):c.3871G>A (p.Ala1291Thr) rs1369525489
NM_001277115.2(DNAH11):c.3907A>G (p.Thr1303Ala) rs951199503
NM_001277115.2(DNAH11):c.396G>T (p.Lys132Asn) rs548141180
NM_001277115.2(DNAH11):c.4012-3C>A rs1216609671
NM_001277115.2(DNAH11):c.4082G>C (p.Arg1361Thr) rs2534693957
NM_001277115.2(DNAH11):c.4083_4085del (p.Arg1362del) rs755391243
NM_001277115.2(DNAH11):c.4094A>C (p.Lys1365Thr) rs1785780743
NM_001277115.2(DNAH11):c.412G>A (p.Gly138Arg) rs1216804983
NM_001277115.2(DNAH11):c.4203G>C (p.Gln1401His) rs773302246
NM_001277115.2(DNAH11):c.4316G>T (p.Arg1439Ile) rs1785921849
NM_001277115.2(DNAH11):c.4318G>A (p.Val1440Met) rs753773546
NM_001277115.2(DNAH11):c.4319T>C (p.Val1440Ala) rs759450356
NM_001277115.2(DNAH11):c.434T>C (p.Val145Ala) rs1220806469
NM_001277115.2(DNAH11):c.4364_4365delinsCT (p.Leu1455Pro) rs2534707506
NM_001277115.2(DNAH11):c.4377G>A (p.Lys1459=) rs1583534756
NM_001277115.2(DNAH11):c.4390A>G (p.Ile1464Val) rs2128454118
NM_001277115.2(DNAH11):c.4405G>A (p.Ala1469Thr) rs2534711080
NM_001277115.2(DNAH11):c.4487T>C (p.Leu1496Pro) rs2128454192
NM_001277115.2(DNAH11):c.4495A>T (p.Asn1499Tyr) rs764377953
NM_001277115.2(DNAH11):c.4497C>G (p.Asn1499Lys)
NM_001277115.2(DNAH11):c.4529A>G (p.Lys1510Arg) rs753342468
NM_001277115.2(DNAH11):c.458C>T (p.Ala153Val) rs1583469217
NM_001277115.2(DNAH11):c.4631C>G (p.Ser1544Cys) rs1370594077
NM_001277115.2(DNAH11):c.4645A>G (p.Ile1549Val) rs1488994370
NM_001277115.2(DNAH11):c.4670G>T (p.Arg1557Leu)
NM_001277115.2(DNAH11):c.4817+6A>T rs1006884453
NM_001277115.2(DNAH11):c.4818G>C (p.Arg1606Ser) rs757299381
NM_001277115.2(DNAH11):c.4829G>C (p.Cys1610Ser) rs750959340
NM_001277115.2(DNAH11):c.4891G>T (p.Val1631Phe) rs766901693
NM_001277115.2(DNAH11):c.4915A>T (p.Ile1639Phe) rs777191347
NM_001277115.2(DNAH11):c.4937C>G (p.Pro1646Arg)
NM_001277115.2(DNAH11):c.493G>A (p.Glu165Lys) rs1782756343
NM_001277115.2(DNAH11):c.4942C>G (p.Gln1648Glu) rs373372239
NM_001277115.2(DNAH11):c.4944+6A>G rs761989552
NM_001277115.2(DNAH11):c.4945-5T>G rs886038468
NM_001277115.2(DNAH11):c.495+12_495+13insGATGAGTACTGCTTTC
NM_001277115.2(DNAH11):c.4974C>T (p.Asp1658=) rs1781993614
NM_001277115.2(DNAH11):c.5020C>T (p.His1674Tyr) rs1452090160
NM_001277115.2(DNAH11):c.5068C>A (p.Gln1690Lys) rs1254903583
NM_001277115.2(DNAH11):c.5087T>G (p.Val1696Gly) rs781408519
NM_001277115.2(DNAH11):c.5094+4A>G rs769984539
NM_001277115.2(DNAH11):c.5164A>T (p.Ile1722Leu) rs1303227208
NM_001277115.2(DNAH11):c.5236T>C (p.Ser1746Pro)
NM_001277115.2(DNAH11):c.5259T>G (p.Asp1753Glu) rs765453467
NM_001277115.2(DNAH11):c.5293T>A (p.Tyr1765Asn) rs1782134654
NM_001277115.2(DNAH11):c.5416G>A (p.Asp1806Asn) rs768955174
NM_001277115.2(DNAH11):c.5447T>G (p.Leu1816Arg) rs1783143270
NM_001277115.2(DNAH11):c.5452T>A (p.Ser1818Thr) rs1583589486
NM_001277115.2(DNAH11):c.5461-10A>G rs759954017
NM_001277115.2(DNAH11):c.5505C>G (p.His1835Gln) rs368778303
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp) rs727502968
NM_001277115.2(DNAH11):c.5586C>G (p.Asn1862Lys) rs1783251924
NM_001277115.2(DNAH11):c.5594G>T (p.Arg1865Leu) rs749869317
NM_001277115.2(DNAH11):c.5753A>C (p.Asn1918Thr)
NM_001277115.2(DNAH11):c.5754C>G (p.Asn1918Lys) rs2534916579
NM_001277115.2(DNAH11):c.575T>A (p.Ile192Lys) rs2534460536
NM_001277115.2(DNAH11):c.5810A>G (p.Gln1937Arg)
NM_001277115.2(DNAH11):c.5819C>G (p.Ala1940Gly)
NM_001277115.2(DNAH11):c.5836G>A (p.Glu1946Lys) rs1165469663
NM_001277115.2(DNAH11):c.5854G>A (p.Val1952Met) rs1783427971
NM_001277115.2(DNAH11):c.590AGA[1] (p.Lys198del) rs752229419
NM_001277115.2(DNAH11):c.5924+5G>A rs778273021
NM_001277115.2(DNAH11):c.594G>T (p.Lys198Asn) rs762925566
NM_001277115.2(DNAH11):c.6062C>A (p.Pro2021His) rs1227418580
NM_001277115.2(DNAH11):c.6086T>C (p.Ile2029Thr) rs747820072
NM_001277115.2(DNAH11):c.6154C>T (p.Leu2052Phe) rs1725389196
NM_001277115.2(DNAH11):c.6161A>C (p.Lys2054Thr) rs1306063707
NM_001277115.2(DNAH11):c.6170T>C (p.Leu2057Pro) rs777354329
NM_001277115.2(DNAH11):c.6176A>G (p.Lys2059Arg) rs1783930160
NM_001277115.2(DNAH11):c.617T>C (p.Met206Thr) rs1375355712
NM_001277115.2(DNAH11):c.6180G>C (p.Gln2060His) rs1481391495
NM_001277115.2(DNAH11):c.6195G>T (p.Trp2065Cys) rs780650546
NM_001277115.2(DNAH11):c.6217G>A (p.Val2073Ile) rs760953364
NM_001277115.2(DNAH11):c.6273+5T>G
NM_001277115.2(DNAH11):c.6307C>T (p.Pro2103Ser)
NM_001277115.2(DNAH11):c.631C>G (p.Leu211Val) rs1384315256
NM_001277115.2(DNAH11):c.6353G>A (p.Gly2118Asp) rs1060503061
NM_001277115.2(DNAH11):c.6379C>T (p.Pro2127Ser) rs1386882237
NM_001277115.2(DNAH11):c.6416G>C (p.Arg2139Thr)
NM_001277115.2(DNAH11):c.6416G>T (p.Arg2139Met)
NM_001277115.2(DNAH11):c.6431A>T (p.Glu2144Val) rs1784194431
NM_001277115.2(DNAH11):c.6463C>T (p.Leu2155Phe) rs1784195701
NM_001277115.2(DNAH11):c.6546+4T>C
NM_001277115.2(DNAH11):c.6546+5A>C
NM_001277115.2(DNAH11):c.6546+5A>G rs761184068
NM_001277115.2(DNAH11):c.6574_6576dup (p.Val2192dup) rs2128480173
NM_001277115.2(DNAH11):c.65C>T (p.Thr22Ile) rs1562648351
NM_001277115.2(DNAH11):c.6680G>A (p.Gly2227Asp)
NM_001277115.2(DNAH11):c.6709C>T (p.Leu2237Phe) rs370225380
NM_001277115.2(DNAH11):c.6736G>C (p.Ala2246Pro) rs1784428696
NM_001277115.2(DNAH11):c.6834+3G>A rs2534986827
NM_001277115.2(DNAH11):c.6853A>G (p.Asn2285Asp) rs2534990562
NM_001277115.2(DNAH11):c.6881T>C (p.Met2294Thr) rs1554272411
NM_001277115.2(DNAH11):c.6935C>A (p.Ser2312Tyr) rs1784474955
NM_001277115.2(DNAH11):c.6946A>G (p.Ile2316Val) rs1289840978
NM_001277115.2(DNAH11):c.6983+5G>A rs1422019653
NM_001277115.2(DNAH11):c.6984-3C>T rs2128482941
NM_001277115.2(DNAH11):c.6984G>A (p.Pro2328=) rs761918179
NM_001277115.2(DNAH11):c.7057T>C (p.Tyr2353His) rs2535009022
NM_001277115.2(DNAH11):c.7092C>G (p.Ser2364Arg)
NM_001277115.2(DNAH11):c.7124G>A (p.Ser2375Asn) rs1784726076
NM_001277115.2(DNAH11):c.7136C>T (p.Thr2379Ile) rs1187736300
NM_001277115.2(DNAH11):c.7205A>T (p.Tyr2402Phe) rs747126718
NM_001277115.2(DNAH11):c.722A>G (p.His241Arg) rs1783371740
NM_001277115.2(DNAH11):c.7324A>C (p.Lys2442Gln) rs1785077339
NM_001277115.2(DNAH11):c.7343C>A (p.Thr2448Lys) rs1193879875
NM_001277115.2(DNAH11):c.7346T>G (p.Ile2449Ser) rs1240719613
NM_001277115.2(DNAH11):c.7351G>C (p.Asp2451His)
NM_001277115.2(DNAH11):c.7410G>C (p.Gln2470His) rs2128485664
NM_001277115.2(DNAH11):c.7420G>C (p.Asp2474His) rs2535043029
NM_001277115.2(DNAH11):c.7433C>T (p.Pro2478Leu) rs1785086357
NM_001277115.2(DNAH11):c.7490A>G (p.Glu2497Gly) rs2128489072
NM_001277115.2(DNAH11):c.7528G>A (p.Gly2510Arg) rs1785578919
NM_001277115.2(DNAH11):c.7625C>G (p.Thr2542Arg) rs772521645
NM_001277115.2(DNAH11):c.7634C>T (p.Thr2545Ile) rs759210659
NM_001277115.2(DNAH11):c.7646-60_7646-11del rs2535095441
NM_001277115.2(DNAH11):c.7720T>G (p.Phe2574Val) rs1583645903
NM_001277115.2(DNAH11):c.7776C>A (p.His2592Gln) rs1109806
NM_001277115.2(DNAH11):c.7793A>G (p.His2598Arg) rs1785739275
NM_001277115.2(DNAH11):c.7811+5G>A rs760682637
NM_001277115.2(DNAH11):c.7811+5G>C rs760682637
NM_001277115.2(DNAH11):c.7818T>A (p.Asp2606Glu) rs1049247750
NM_001277115.2(DNAH11):c.7819A>G (p.Arg2607Gly) rs2535099103
NM_001277115.2(DNAH11):c.784T>G (p.Ser262Ala) rs759930423
NM_001277115.2(DNAH11):c.7859A>G (p.Tyr2620Cys) rs754268577
NM_001277115.2(DNAH11):c.7891_7893del (p.Phe2631del) rs1785785582
NM_001277115.2(DNAH11):c.7897A>G (p.Ile2633Val) rs1583647020
NM_001277115.2(DNAH11):c.7913A>C (p.Gln2638Pro) rs1417718316
NM_001277115.2(DNAH11):c.7930T>G (p.Phe2644Val)
NM_001277115.2(DNAH11):c.7932T>A (p.Phe2644Leu) rs904849195
NM_001277115.2(DNAH11):c.7971C>G (p.Ile2657Met)
NM_001277115.2(DNAH11):c.8065T>C (p.Phe2689Leu) rs1785929432
NM_001277115.2(DNAH11):c.8117A>G (p.Tyr2706Cys) rs1060503066
NM_001277115.2(DNAH11):c.8140T>A (p.Ser2714Thr) rs1785934224
NM_001277115.2(DNAH11):c.8184A>C (p.Leu2728Phe) rs374924146
NM_001277115.2(DNAH11):c.8242G>A (p.Asp2748Asn) rs1554276379
NM_001277115.2(DNAH11):c.8274G>C (p.Leu2758Phe) rs2535117187
NM_001277115.2(DNAH11):c.8316+5G>A rs1048811611
NM_001277115.2(DNAH11):c.8318G>A (p.Gly2773Asp) rs201180532
NM_001277115.2(DNAH11):c.8371G>C (p.Asp2791His) rs752427757
NM_001277115.2(DNAH11):c.8465A>C (p.Asn2822Thr) rs1236453383
NM_001277115.2(DNAH11):c.8516G>T (p.Arg2839Leu) rs1253630975
NM_001277115.2(DNAH11):c.8554C>G (p.Leu2852Val) rs1363623324
NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser) rs1053893041
NM_001277115.2(DNAH11):c.8558T>G (p.Leu2853Trp) rs1053893041
NM_001277115.2(DNAH11):c.8560G>T (p.Val2854Phe) rs1786264555
NM_001277115.2(DNAH11):c.8579G>T (p.Gly2860Val) rs749830026
NM_001277115.2(DNAH11):c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg) rs1060503060
NM_001277115.2(DNAH11):c.8606C>T (p.Ala2869Val) rs2128492615
NM_001277115.2(DNAH11):c.8620C>T (p.Leu2874Phe) rs1060503065
NM_001277115.2(DNAH11):c.8645C>A (p.Thr2882Asn) rs1351922809
NM_001277115.2(DNAH11):c.8653T>C (p.Tyr2885His) rs2535131088
NM_001277115.2(DNAH11):c.8654A>G (p.Tyr2885Cys) rs758234780
NM_001277115.2(DNAH11):c.8714A>T (p.Asn2905Ile) rs1554276924
NM_001277115.2(DNAH11):c.8835C>G (p.Asp2945Glu) rs1398439669
NM_001277115.2(DNAH11):c.8839A>G (p.Ile2947Val) rs1786356687
NM_001277115.2(DNAH11):c.8870C>T (p.Ala2957Val) rs369875222
NM_001277115.2(DNAH11):c.8913T>G (p.Phe2971Leu) rs1554277057
NM_001277115.2(DNAH11):c.9126C>G (p.Ser3042Arg) rs757136516
NM_001277115.2(DNAH11):c.9139C>T (p.His3047Tyr) rs1159816817
NM_001277115.2(DNAH11):c.9172A>G (p.Arg3058Gly) rs2535217745
NM_001277115.2(DNAH11):c.9212C>A (p.Pro3071Gln) rs1216148023
NM_001277115.2(DNAH11):c.9218_9219delinsTC (p.Ser3073Ile) rs2535218040
NM_001277115.2(DNAH11):c.9243T>A (p.Phe3081Leu) rs367808905
NM_001277115.2(DNAH11):c.9336+3A>G rs2535218624
NM_001277115.2(DNAH11):c.9380T>G (p.Leu3127Arg) rs755885697
NM_001277115.2(DNAH11):c.939C>G (p.Ser313Arg) rs72655977
NM_001277115.2(DNAH11):c.9406G>T (p.Ala3136Ser) rs2127982511
NM_001277115.2(DNAH11):c.9484G>A (p.Val3162Met) rs761864384
NM_001277115.2(DNAH11):c.9488C>T (p.Thr3163Ile) rs1450055499
NM_001277115.2(DNAH11):c.9527G>A (p.Cys3176Tyr)
NM_001277115.2(DNAH11):c.9542T>C (p.Leu3181Pro) rs747056886
NM_001277115.2(DNAH11):c.9553C>A (p.Pro3185Thr) rs960341299
NM_001277115.2(DNAH11):c.9563T>A (p.Val3188Glu) rs761194521
NM_001277115.2(DNAH11):c.9608G>C (p.Ser3203Thr) rs1173139296
NM_001277115.2(DNAH11):c.9643G>C (p.Val3215Leu) rs2535259608
NM_001277115.2(DNAH11):c.9675_9677del (p.Leu3226del) rs759608996
NM_001277115.2(DNAH11):c.9689G>A (p.Gly3230Glu) rs1788210894
NM_001277115.2(DNAH11):c.9691A>G (p.Arg3231Gly) rs1206742171
NM_001277115.2(DNAH11):c.9718G>A (p.Ala3240Thr) rs2127986981
NM_001277115.2(DNAH11):c.9732C>G (p.Phe3244Leu) rs878854449
NM_001277115.2(DNAH11):c.9761C>A (p.Ala3254Glu) rs1788237725
NM_001277115.2(DNAH11):c.97G>A (p.Val33Met) rs1401125804
NM_001277115.2(DNAH11):c.9815A>G (p.Asn3272Ser) rs1554281016
NM_001277115.2(DNAH11):c.9817G>A (p.Glu3273Lys)
NM_001277115.2(DNAH11):c.9826T>G (p.Leu3276Val) rs781418836
NM_001277115.2(DNAH11):c.9924+2dup
NM_001277115.2(DNAH11):c.9949C>T (p.Arg3317Cys) rs578184089
NM_001364171.2(ODAD1):c.1072-7C>T rs1600860434
NM_001364171.2(ODAD1):c.1100C>T (p.Ala367Val) rs2147315341
NM_001364171.2(ODAD1):c.1128G>C (p.Gln376His) rs746231311
NM_001364171.2(ODAD1):c.1148T>C (p.Leu383Ser) rs1968503578
NM_001364171.2(ODAD1):c.1171C>T (p.His391Tyr) rs559542917
NM_001364171.2(ODAD1):c.1186C>G (p.Arg396Gly) rs373501045
NM_001364171.2(ODAD1):c.1186C>T (p.Arg396Cys) rs373501045
NM_001364171.2(ODAD1):c.1187G>T (p.Arg396Leu) rs139618333
NM_001364171.2(ODAD1):c.119G>C (p.Gly40Ala) rs2147337064
NM_001364171.2(ODAD1):c.122A>C (p.Glu41Ala) rs2515959139
NM_001364171.2(ODAD1):c.1256T>G (p.Phe419Cys) rs2515927838
NM_001364171.2(ODAD1):c.1322A>G (p.Asp441Gly) rs2515927668
NM_001364171.2(ODAD1):c.1439T>C (p.Val480Ala)
NM_001364171.2(ODAD1):c.1473G>T (p.Lys491Asn) rs978861683
NM_001364171.2(ODAD1):c.1475T>G (p.Met492Arg) rs1555879279
NM_001364171.2(ODAD1):c.1489C>T (p.Pro497Ser) rs2515926981
NM_001364171.2(ODAD1):c.1509C>A (p.Asp503Glu) rs1271012377
NM_001364171.2(ODAD1):c.1531G>A (p.Asp511Asn) rs755370736
NM_001364171.2(ODAD1):c.1542del (p.Pro514_Met515insTer) rs2515925621
NM_001364171.2(ODAD1):c.1579C>A (p.Leu527Met) rs371854569
NM_001364171.2(ODAD1):c.1629CGC[3] (p.Ala547del) rs761748771
NM_001364171.2(ODAD1):c.1629CGC[6] (p.Ala546_Ala547dup) rs761748771
NM_001364171.2(ODAD1):c.1702G>C (p.Val568Leu) rs190964996
NM_001364171.2(ODAD1):c.1708G>A (p.Val570Met) rs1968323305
NM_001364171.2(ODAD1):c.182G>C (p.Arg61Pro) rs759979512
NM_001364171.2(ODAD1):c.1880C>T (p.Ser627Phe) rs1968314530
NM_001364171.2(ODAD1):c.1892C>T (p.Ser631Leu) rs143219618
NM_001364171.2(ODAD1):c.1970G>A (p.Arg657Lys) rs1968309990
NM_001364171.2(ODAD1):c.1973del (p.Gly658fs) rs769187045
NM_001364171.2(ODAD1):c.1989G>T (p.Glu663Asp) rs1600854444
NM_001364171.2(ODAD1):c.2011_2034del (p.Thr671_Gly678del) rs776327192
NM_001364171.2(ODAD1):c.2028C>A (p.Ser676Arg) rs146521880
NM_001364171.2(ODAD1):c.2029_2046dup (p.Gly677_Ser682dup) rs772407409
NM_001364171.2(ODAD1):c.2067_2084dup (p.Ala692_Pro697dup) rs755466284
NM_001364171.2(ODAD1):c.2073_2090del (p.Ala692_Pro697del) rs1387748974
NM_001364171.2(ODAD1):c.2090C>T (p.Pro697Leu) rs768598609
NM_001364171.2(ODAD1):c.2099_2102delinsACA (p.Ser700fs) rs1569000186
NM_001364171.2(ODAD1):c.2105G>C (p.Ser702Thr) rs2515923319
NM_001364171.2(ODAD1):c.253C>T (p.Arg85Trp) rs746996781
NM_001364171.2(ODAD1):c.257A>G (p.Asp86Gly)
NM_001364171.2(ODAD1):c.266G>A (p.Arg89Gln) rs58966182
NM_001364171.2(ODAD1):c.282C>A (p.Asp94Glu)
NM_001364171.2(ODAD1):c.284G>C (p.Arg95Pro) rs1002779676
NM_001364171.2(ODAD1):c.314C>A (p.Ala105Glu) rs1402875362
NM_001364171.2(ODAD1):c.338A>C (p.Gln113Pro) rs1968956913
NM_001364171.2(ODAD1):c.346G>C (p.Ala116Pro) rs1060500991
NM_001364171.2(ODAD1):c.366G>T (p.Gln122His)
NM_001364171.2(ODAD1):c.388A>G (p.Thr130Ala) rs1968778540
NM_001364171.2(ODAD1):c.395G>C (p.Ser132Thr) rs1443442774
NM_001364171.2(ODAD1):c.497T>C (p.Phe166Ser) rs2515949291
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg) rs779459076
NM_001364171.2(ODAD1):c.514C>G (p.Arg172Gly) rs556570604
NM_001364171.2(ODAD1):c.556G>A (p.Asp186Asn) rs372015636
NM_001364171.2(ODAD1):c.627C>G (p.Ser209Arg) rs919043631
NM_001364171.2(ODAD1):c.629C>G (p.Thr210Ser) rs1600864322
NM_001364171.2(ODAD1):c.634A>G (p.Ile212Val) rs2515941985
NM_001364171.2(ODAD1):c.716AGG[1] (p.Glu240del) rs760854519
NM_001364171.2(ODAD1):c.721G>T (p.Ala241Ser) rs1259985148
NM_001364171.2(ODAD1):c.746T>C (p.Val249Ala) rs1192630734
NM_001364171.2(ODAD1):c.806A>G (p.Asn269Ser) rs2147317437
NM_001364171.2(ODAD1):c.943A>G (p.Met315Val) rs768270947
NM_001364171.2(ODAD1):c.997C>T (p.Arg333Cys) rs147626899
NM_001369.3(DNAH5):c.10025A>G (p.Glu3342Gly)
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val) rs1752464443
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser) rs1390111024
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val) rs1776738425
NM_001369.3(DNAH5):c.10286A>G (p.Asn3429Ser) rs1580095416
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr) rs751500950
NM_001369.3(DNAH5):c.10381G>A (p.Val3461Met) rs770152494
NM_001369.3(DNAH5):c.10420-3T>C rs1172050367
NM_001369.3(DNAH5):c.10436C>A (p.Ala3479Glu) rs2546618849
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val) rs2546615913
NM_001369.3(DNAH5):c.10565T>G (p.Leu3522Arg) rs2546615879
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala) rs1580068395
NM_001369.3(DNAH5):c.10681C>G (p.Leu3561Val) rs1750534633
NM_001369.3(DNAH5):c.10690A>C (p.Ser3564Arg) rs2126701456
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr) rs1255772979
NM_001369.3(DNAH5):c.10706A>G (p.Asp3569Gly) rs772964691
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.10784C>A (p.Thr3595Lys) rs886043929
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro) rs368959723
NM_001369.3(DNAH5):c.10820A>G (p.Gln3607Arg) rs1165094543
NM_001369.3(DNAH5):c.10839G>C (p.Trp3613Cys) rs1750508726
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu) rs547014532
NM_001369.3(DNAH5):c.10861A>T (p.Asn3621Tyr)
NM_001369.3(DNAH5):c.10886A>C (p.Asn3629Thr) rs2126695378
NM_001369.3(DNAH5):c.10888C>T (p.His3630Tyr) rs1750346300
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu) rs2546611634
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu) rs2546611477
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu) rs1750176019
NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala) rs1750176019
NM_001369.3(DNAH5):c.11063A>G (p.Asp3688Gly) rs878854454
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys) rs747614788
NM_001369.3(DNAH5):c.11102C>A (p.Pro3701Gln)
NM_001369.3(DNAH5):c.11167C>G (p.Leu3723Val) rs2126689104
NM_001369.3(DNAH5):c.11212-4A>G rs1554028140
NM_001369.3(DNAH5):c.11305A>G (p.Thr3769Ala) rs1747678431
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly) rs1747677646
NM_001369.3(DNAH5):c.11357G>C (p.Ser3786Thr) rs777928542
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg) rs374858945
NM_001369.3(DNAH5):c.11500C>T (p.Arg3834Cys) rs1579972564
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg) rs763954304
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro) rs2126606502
NM_001369.3(DNAH5):c.11861A>G (p.Gln3954Arg)
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly) rs2546546915
NM_001369.3(DNAH5):c.11872G>A (p.Val3958Ile)
NM_001369.3(DNAH5):c.11883+3A>G
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys) rs1221618846
NM_001369.3(DNAH5):c.11987G>T (p.Arg3996Leu)
NM_001369.3(DNAH5):c.12004T>A (p.Ser4002Thr) rs2546541666
NM_001369.3(DNAH5):c.12033+5A>T
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys) rs140782270
NM_001369.3(DNAH5):c.1216T>G (p.Ser406Ala) rs1776422779
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser) rs1744991255
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp) rs1201132518
NM_001369.3(DNAH5):c.12279+6G>C rs762179184
NM_001369.3(DNAH5):c.12279+6G>T
NM_001369.3(DNAH5):c.12326T>C (p.Met4109Thr) rs1744695650
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val) rs1580867247
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala) rs2546518605
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro) rs757737381
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser) rs148696723
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu) rs754273700
NM_001369.3(DNAH5):c.12460C>T (p.Pro4154Ser)
NM_001369.3(DNAH5):c.12467_12468delinsAC (p.Gly4156Asp)
NM_001369.3(DNAH5):c.12521A>G (p.Asp4174Gly) rs1554020311
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys) rs368413636
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro) rs1312032248
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg) rs2546512469
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu) rs2546512398
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12779A>G (p.Asp4260Gly)
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys) rs1744308032
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile) rs1195332098
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys) rs2546508893
NM_001369.3(DNAH5):c.12934G>A (p.Glu4312Lys) rs2546504199
NM_001369.3(DNAH5):c.13013G>C (p.Gly4338Ala) rs1744030966
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val) rs371027404
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly) rs1446970822
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg) rs2151982078
NM_001369.3(DNAH5):c.13231C>G (p.Leu4411Val) rs941923241
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro) rs2546487306
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro) rs2547127710
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu) rs1060501467
NM_001369.3(DNAH5):c.1339C>T (p.His447Tyr) rs2547127683
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala) rs2546469454
NM_001369.3(DNAH5):c.13414G>A (p.Val4472Ile)
NM_001369.3(DNAH5):c.13427G>A (p.Arg4476Gln)
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp) rs2126405290
NM_001369.3(DNAH5):c.13593_13594delinsAT (p.Gly4532Cys) rs2546467219
NM_001369.3(DNAH5):c.13601A>G (p.Tyr4534Cys)
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys) rs1741988812
NM_001369.3(DNAH5):c.13628C>T (p.Ala4543Val) rs2126404399
NM_001369.3(DNAH5):c.13706T>C (p.Ile4569Thr)
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys) rs768846678
NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu) rs774527322
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser) rs760428177
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro) rs367709427
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala) rs886059934
NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe) rs923678039
NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr) rs1554012799
NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser) rs1554012799
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe) rs1580863552
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile) rs764562876
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr) rs1160013087
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe) rs1775975227
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro) rs2547119839
NM_001369.3(DNAH5):c.1645-8T>G rs2151964175
NM_001369.3(DNAH5):c.1667A>G (p.Asp556Gly) rs1774708439
NM_001369.3(DNAH5):c.1688A>G (p.Gln563Arg)
NM_001369.3(DNAH5):c.1792G>A (p.Ala598Thr) rs863224706
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr) rs1168408091
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu) rs121908853
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu) rs1580809647
NM_001369.3(DNAH5):c.192+5G>A rs2547182493
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn) rs1226480889
NM_001369.3(DNAH5):c.2052+3G>C rs2547091579
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser) rs866977828
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp) rs1561533986
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro) rs776296737
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg) rs2547088127
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu) rs956123437
NM_001369.3(DNAH5):c.2298A>G (p.Ile766Met) rs770887454
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2380T>C (p.Trp794Arg) rs1182974923
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys) rs2151953467
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser) rs760986984
NM_001369.3(DNAH5):c.251A>C (p.Tyr84Ser)
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys) rs1773148161
NM_001369.3(DNAH5):c.2577+5T>G rs201596289
NM_001369.3(DNAH5):c.2648T>C (p.Leu883Pro) rs2151943048
NM_001369.3(DNAH5):c.2666A>G (p.Asp889Gly)
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn) rs745595467
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2743+3A>T rs752170130
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del) rs762827509
NM_001369.3(DNAH5):c.275C>G (p.Thr92Arg) rs765566079
NM_001369.3(DNAH5):c.2899A>C (p.Met967Leu) rs764914687
NM_001369.3(DNAH5):c.2939C>A (p.Ala980Asp) rs2151941469
NM_001369.3(DNAH5):c.2953A>G (p.Ile985Val) rs377668816
NM_001369.3(DNAH5):c.2983+6A>G
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys) rs752944631
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val) rs2151938659
NM_001369.3(DNAH5):c.3104A>G (p.Asn1035Ser)
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly) rs1771881510
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu) rs1771855564
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly) rs2547030314
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn) rs2151938135
NM_001369.3(DNAH5):c.3316TAT[1] (p.Tyr1107del) rs776767185
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys) rs375100071
NM_001369.3(DNAH5):c.3491C>T (p.Pro1164Leu) rs878854456
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys) rs1561477933
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro) rs1770106766
NM_001369.3(DNAH5):c.3669A>T (p.Lys1223Asn) rs2546996368
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg) rs1561476005
NM_001369.3(DNAH5):c.3725A>G (p.Lys1242Arg) rs1769995434
NM_001369.3(DNAH5):c.3727C>G (p.Leu1243Val) rs2151918770
NM_001369.3(DNAH5):c.3767C>T (p.Ala1256Val) rs780280647
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp) rs2546995639
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp) rs750132119
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu) rs2546988231
NM_001369.3(DNAH5):c.401A>G (p.Asp134Gly) rs2547160038
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe) rs2546987963
NM_001369.3(DNAH5):c.4108A>G (p.Met1370Val) rs2546984319
NM_001369.3(DNAH5):c.4113T>G (p.Phe1371Leu) rs1561465310
NM_001369.3(DNAH5):c.4226T>C (p.Leu1409Pro)
NM_001369.3(DNAH5):c.4267A>G (p.Ile1423Val)
NM_001369.3(DNAH5):c.4356-15G>A rs773986737
NM_001369.3(DNAH5):c.4370C>T (p.Pro1457Leu) rs1308493849
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His) rs1768954926
NM_001369.3(DNAH5):c.438+5G>C rs776343117
NM_001369.3(DNAH5):c.438+6G>A rs2151997008
NM_001369.3(DNAH5):c.438+6G>C rs2151997008
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg) rs74451896
NM_001369.3(DNAH5):c.4459G>A (p.Ala1487Thr)
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val) rs1768942005
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His) rs2546978621
NM_001369.3(DNAH5):c.4539C>A (p.Ser1513Arg)
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val) rs1768927489
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr) rs916516633
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp) rs767321919
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp) rs2546973378
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val) rs1580641242
NM_001369.3(DNAH5):c.4797-13T>G rs1356734218
NM_001369.3(DNAH5):c.4805T>C (p.Met1602Thr) rs767821520
NM_001369.3(DNAH5):c.4916T>C (p.Phe1639Ser) rs1768079158
NM_001369.3(DNAH5):c.4950G>A (p.Lys1650=) rs1768073068
NM_001369.3(DNAH5):c.4990A>C (p.Lys1664Gln)
NM_001369.3(DNAH5):c.5024T>C (p.Val1675Ala) rs2151883811
NM_001369.3(DNAH5):c.5105C>T (p.Ser1702Phe)
NM_001369.3(DNAH5):c.5111C>A (p.Thr1704Asn) rs1427029408
NM_001369.3(DNAH5):c.5130A>C (p.Lys1710Asn) rs2546923403
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn) rs759697461
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val) rs1423005409
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser) rs770108485
NM_001369.3(DNAH5):c.5252C>A (p.Ser1751Tyr) rs2151870055
NM_001369.3(DNAH5):c.5257A>G (p.Lys1753Glu)
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu) rs1765751014
NM_001369.3(DNAH5):c.5271+5G>A rs749394641
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn) rs1293906490
NM_001369.3(DNAH5):c.5332C>G (p.Pro1778Ala) rs1765209467
NM_001369.3(DNAH5):c.5338A>T (p.Met1780Leu) rs369482173
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser) rs1580524265
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp) rs754274080
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu) rs2151860552
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu) rs2546908603
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile) rs1554104341
NM_001369.3(DNAH5):c.561G>C (p.Glu187Asp) rs2547155970
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro) rs1777384254
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His) rs1554072085
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del) rs2546902996
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr) rs1764854434
NM_001369.3(DNAH5):c.5894C>G (p.Thr1965Arg)
NM_001369.3(DNAH5):c.5918G>A (p.Ser1973Asn) rs2546882379
NM_001369.3(DNAH5):c.5922G>T (p.Met1974Ile)
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe) rs2546881989
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp) rs2547155760
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe) rs769656114
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser) rs1375968864
NM_001369.3(DNAH5):c.6044T>C (p.Leu2015Pro) rs2546881551
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys) rs989184330
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val) rs1763454468
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu) rs760502991
NM_001369.3(DNAH5):c.6167A>C (p.Lys2056Thr)
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly) rs2546878648
NM_001369.3(DNAH5):c.6249+4A>T rs1554067648
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys) rs139640247
NM_001369.3(DNAH5):c.6325C>T (p.Pro2109Ser) rs2546876138
NM_001369.3(DNAH5):c.6343A>G (p.Ile2115Val) rs1185708782
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu) rs1763365674
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val) rs2546854013
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr) rs755113058
NM_001369.3(DNAH5):c.6650C>A (p.Ala2217Glu) rs748338986
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr) rs2151821296
NM_001369.3(DNAH5):c.6681T>A (p.Ser2227Arg) rs1355806912
NM_001369.3(DNAH5):c.676T>C (p.Cys226Arg) rs1777146393
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr) rs1023849945
NM_001369.3(DNAH5):c.6884C>G (p.Ala2295Gly) rs368441809
NM_001369.3(DNAH5):c.6884C>T (p.Ala2295Val) rs368441809
NM_001369.3(DNAH5):c.6905T>G (p.Phe2302Cys) rs981583760
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val) rs1580399696
NM_001369.3(DNAH5):c.6918C>G (p.Asp2306Glu)
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro) rs1761613337
NM_001369.3(DNAH5):c.6989-3T>C
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser) rs1416012949
NM_001369.3(DNAH5):c.7000T>C (p.Trp2334Arg) rs2546825868
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His) rs2151800746
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser) rs2546825796
NM_001369.3(DNAH5):c.7059G>A (p.Leu2353=)
NM_001369.3(DNAH5):c.7186G>A (p.Val2396Ile)
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu) rs1368779884
NM_001369.3(DNAH5):c.7230G>C (p.Glu2410Asp) rs2546824761
NM_001369.3(DNAH5):c.7231-6del rs1465272963
NM_001369.3(DNAH5):c.7231-7C>G
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser) rs2151992686
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val) rs776738829
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His) rs1554059594
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser) rs112103817
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg) rs2127015411
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp) rs1355327016
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu) rs561666802
NM_001369.3(DNAH5):c.7453G>C (p.Val2485Leu)
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu) rs1428862297
NM_001369.3(DNAH5):c.7501C>T (p.Arg2501Trp)
NM_001369.3(DNAH5):c.7504C>T (p.Arg2502Cys)
NM_001369.3(DNAH5):c.7511T>C (p.Leu2504Pro) rs1344694038
NM_001369.3(DNAH5):c.7514A>T (p.Glu2505Val) rs1296081403
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly) rs564040169
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala) rs1760398139
NM_001369.3(DNAH5):c.7582G>A (p.Ala2528Thr)
NM_001369.3(DNAH5):c.759A>G (p.Ile253Met) rs1777139269
NM_001369.3(DNAH5):c.7606G>A (p.Asp2536Asn)
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala) rs1340645369
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp) rs1554058022
NM_001369.3(DNAH5):c.770T>C (p.Met257Thr) rs771377608
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg) rs1279883936
NM_001369.3(DNAH5):c.7749C>T (p.Gly2583=)
NM_001369.3(DNAH5):c.774A>G (p.Lys258=) rs1580893288
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=) rs2546800287
NM_001369.3(DNAH5):c.7805G>A (p.Gly2602Glu) rs199901657
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu) rs2546793928
NM_001369.3(DNAH5):c.7853A>G (p.Asn2618Ser)
NM_001369.3(DNAH5):c.798+2dup rs1777130854
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser) rs774224537
NM_001369.3(DNAH5):c.8015C>T (p.Thr2672Met) rs1358728493
NM_001369.3(DNAH5):c.8040G>C (p.Met2680Ile)
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp) rs1468245529
NM_001369.3(DNAH5):c.8077G>A (p.Glu2693Lys) rs1757368494
NM_001369.3(DNAH5):c.8122C>T (p.His2708Tyr) rs1757358342
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile) rs753702337
NM_001369.3(DNAH5):c.8182A>G (p.Asn2728Asp)
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp) rs748140396
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys) rs1757110482
NM_001369.3(DNAH5):c.8261G>T (p.Gly2754Val) rs546101625
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.8369A>G (p.Tyr2790Cys)
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val) rs199629940
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn) rs2126882668
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly) rs748080642
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala) rs1756491046
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly) rs1347729037
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val) rs1756476635
NM_001369.3(DNAH5):c.8647+3A>G rs1580248475
NM_001369.3(DNAH5):c.8726G>T (p.Arg2909Leu) rs756069405
NM_001369.3(DNAH5):c.8752A>G (p.Asn2918Asp) rs1755979769
NM_001369.3(DNAH5):c.8805G>A (p.Met2935Ile) rs77874614
NM_001369.3(DNAH5):c.8820+6G>A rs201287534
NM_001369.3(DNAH5):c.8837G>T (p.Arg2946Leu)
NM_001369.3(DNAH5):c.8870T>C (p.Val2957Ala)
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala) rs1754251806
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys) rs1754241068
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg) rs1754228264
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp) rs2546681874
NM_001369.3(DNAH5):c.909A>C (p.Gln303His) rs1321850022
NM_001369.3(DNAH5):c.9105+5G>C
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn) rs1171709721
NM_001369.3(DNAH5):c.919C>T (p.Pro307Ser) rs2547144228
NM_001369.3(DNAH5):c.9214G>A (p.Asp3072Asn) rs749838880
NM_001369.3(DNAH5):c.9215A>C (p.Asp3072Ala)
NM_001369.3(DNAH5):c.9250A>G (p.Ile3084Val) rs754352566
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys) rs1243099431
NM_001369.3(DNAH5):c.9511A>C (p.Thr3171Pro) rs149681419
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala) rs149681419
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=) rs764594038
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu) rs2546662983
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu) rs2126785528
NM_001369.3(DNAH5):c.9606-7A>G rs1753043312
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr) rs1554040804
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile) rs2546658536
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val) rs780887847
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro) rs139293893
NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly) rs2126776737
NM_001369.3(DNAH5):c.9854A>G (p.Glu3285Gly)
NM_001369.3(DNAH5):c.9869C>G (p.Ala3290Gly)
NM_001369.3(DNAH5):c.9886G>A (p.Ala3296Thr)
NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val) rs2546655888
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9967A>G (p.Met3323Val) rs1554039465
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu) rs745862355
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp) rs1470058689
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser) rs2492025475
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg) rs1824938179
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp) rs138954776
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys) rs766607013
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro) rs2492115178
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala) rs1825078145
NM_012144.4(DNAI1):c.1397T>G (p.Val466Gly)
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr) rs185480184
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=) rs2492116813
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.1592A>G (p.Gln531Arg)
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser) rs368248592
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala) rs1314566572
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr) rs1554691495
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu) rs921726236
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro) rs2492127668
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile) rs2132084252
NM_012144.4(DNAI1):c.180G>T (p.Ala60=) rs201120508
NM_012144.4(DNAI1):c.1819-9T>G rs1587094351
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr) rs148762102
NM_012144.4(DNAI1):c.1930A>G (p.Ile644Val)
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly) rs564706097
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro) rs111887810
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu) rs1564031598
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val) rs1824534743
NM_012144.4(DNAI1):c.310T>C (p.Tyr104His)
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp) rs1824535486
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val) rs2492032490
NM_012144.4(DNAI1):c.366T>A (p.His122Gln) rs1060503514
NM_012144.4(DNAI1):c.409G>A (p.Val137Met) rs1824554174
NM_012144.4(DNAI1):c.48+6G>A rs962155265
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val) rs1554687745
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys) rs1178602656
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser) rs764611383
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser) rs1824592383
NM_012144.4(DNAI1):c.682-16T>C
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val) rs1824644753
NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn) rs562408105
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr) rs373703151
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn) rs2132065479
NM_012144.4(DNAI1):c.787A>G (p.Met263Val) rs750194621
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser) rs762886409
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe) rs1824648112
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu) rs772207177
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln) rs2492072396
NM_015896.4(ZMYND10):c.1028G>A (p.Arg343Gln) rs755967305
NM_015896.4(ZMYND10):c.1117C>G (p.Arg373Gly) rs746007602
NM_015896.4(ZMYND10):c.1177C>G (p.Arg393Gly) rs587740488
NM_015896.4(ZMYND10):c.1178G>A (p.Arg393His) rs200276907
NM_015896.4(ZMYND10):c.1220G>C (p.Arg407Pro) rs182064110
NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter) rs1553720370
NM_015896.4(ZMYND10):c.1270G>A (p.Glu424Lys) rs1575551902
NM_015896.4(ZMYND10):c.145G>A (p.Asp49Asn) rs1486742632
NM_015896.4(ZMYND10):c.152C>T (p.Thr51Ile) rs2470926793
NM_015896.4(ZMYND10):c.159C>A (p.Ser53Arg) rs1703505766
NM_015896.4(ZMYND10):c.202G>A (p.Val68Ile)
NM_015896.4(ZMYND10):c.236A>G (p.Glu79Gly) rs1438398042
NM_015896.4(ZMYND10):c.240G>A (p.Met80Ile) rs1703461215
NM_015896.4(ZMYND10):c.299C>T (p.Thr100Ile) rs2470924460
NM_015896.4(ZMYND10):c.319-3C>T rs1264654207
NM_015896.4(ZMYND10):c.328G>A (p.Glu110Lys)
NM_015896.4(ZMYND10):c.340A>C (p.Ile114Leu)
NM_015896.4(ZMYND10):c.356C>T (p.Thr119Ile) rs1352736044
NM_015896.4(ZMYND10):c.359T>C (p.Val120Ala) rs1575555288
NM_015896.4(ZMYND10):c.383A>T (p.Glu128Val)
NM_015896.4(ZMYND10):c.477G>T (p.Glu159Asp) rs377737133
NM_015896.4(ZMYND10):c.521A>G (p.Lys174Arg)
NM_015896.4(ZMYND10):c.53G>T (p.Gly18Val) rs1703518565
NM_015896.4(ZMYND10):c.562C>G (p.Leu188Val) rs1340705610
NM_015896.4(ZMYND10):c.578A>G (p.Tyr193Cys) rs2470923420
NM_015896.4(ZMYND10):c.600-15C>A rs774249609
NM_015896.4(ZMYND10):c.600-9_600-8insA rs1703437359
NM_015896.4(ZMYND10):c.637C>A (p.His213Asn) rs199711270
NM_015896.4(ZMYND10):c.775G>A (p.Asp259Asn) rs772481555
NM_015896.4(ZMYND10):c.775G>T (p.Asp259Tyr) rs772481555
NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn) rs1376562082
NM_015896.4(ZMYND10):c.833G>A (p.Arg278His) rs746014252
NM_015896.4(ZMYND10):c.852T>A (p.Phe284Leu) rs760826410
NM_015896.4(ZMYND10):c.863G>A (p.Arg288Gln) rs767713937
NM_015896.4(ZMYND10):c.93G>A (p.Gly31=) rs1703507170
NM_015896.4(ZMYND10):c.999+5G>C
NM_017802.4(DNAAF5):c.1018C>G (p.Pro340Ala) rs1380705915
NM_017802.4(DNAAF5):c.1030C>T (p.Arg344Cys) rs1583495983
NM_017802.4(DNAAF5):c.1069C>T (p.Leu357Phe) rs2484100950
NM_017802.4(DNAAF5):c.1108G>T (p.Asp370Tyr) rs200573334
NM_017802.4(DNAAF5):c.1127G>A (p.Arg376Gln) rs760488601
NM_017802.4(DNAAF5):c.1221G>C (p.Gln407His) rs1782430981
NM_017802.4(DNAAF5):c.1255A>G (p.Ser419Gly) rs1327498994
NM_017802.4(DNAAF5):c.1258-3C>T rs1562388213
NM_017802.4(DNAAF5):c.1279G>A (p.Val427Ile) rs372983996
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe) rs372983996
NM_017802.4(DNAAF5):c.130C>T (p.Pro44Ser) rs2484000554
NM_017802.4(DNAAF5):c.1471G>A (p.Asp491Asn) rs1431048395
NM_017802.4(DNAAF5):c.1537G>A (p.Gly513Ser) rs765393246
NM_017802.4(DNAAF5):c.1540G>A (p.Val514Met)
NM_017802.4(DNAAF5):c.1544C>T (p.Ala515Val) rs878855034
NM_017802.4(DNAAF5):c.1576A>C (p.Ile526Leu) rs778680655
NM_017802.4(DNAAF5):c.1645G>A (p.Val549Met) rs746007264
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His) rs760358814
NM_017802.4(DNAAF5):c.1689T>G (p.Ile563Met) rs151227818
NM_017802.4(DNAAF5):c.1708G>C (p.Val570Leu) rs909255404
NM_017802.4(DNAAF5):c.177G>T (p.Glu59Asp)
NM_017802.4(DNAAF5):c.1823C>T (p.Thr608Met) rs201903719
NM_017802.4(DNAAF5):c.1856C>G (p.Pro619Arg) rs755871359
NM_017802.4(DNAAF5):c.187G>A (p.Ala63Thr)
NM_017802.4(DNAAF5):c.1931G>C (p.Gly644Ala) rs1474459920
NM_017802.4(DNAAF5):c.1978C>A (p.Pro660Thr) rs1778670673
NM_017802.4(DNAAF5):c.1995T>A (p.His665Gln) rs768081340
NM_017802.4(DNAAF5):c.2003G>A (p.Arg668Lys) rs555500022
NM_017802.4(DNAAF5):c.2015C>G (p.Ala672Gly) rs2128084811
NM_017802.4(DNAAF5):c.2082+5G>A rs1027651909
NM_017802.4(DNAAF5):c.2129_2140del (p.Leu710_Ser714delinsPro) rs2484170356
NM_017802.4(DNAAF5):c.215C>T (p.Pro72Leu) rs2128538232
NM_017802.4(DNAAF5):c.2164T>C (p.Cys722Arg)
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His) rs756813208
NM_017802.4(DNAAF5):c.2168G>C (p.Arg723Pro) rs756813208
NM_017802.4(DNAAF5):c.2197G>A (p.Gly733Ser) rs2128085181
NM_017802.4(DNAAF5):c.2230A>G (p.Ile744Val) rs2484170745
NM_017802.4(DNAAF5):c.2236C>T (p.Pro746Ser)
NM_017802.4(DNAAF5):c.2371T>C (p.Tyr791His) rs2128086438
NM_017802.4(DNAAF5):c.2377G>C (p.Glu793Gln) rs2128086442
NM_017802.4(DNAAF5):c.2423C>T (p.Ala808Val) rs1778888401
NM_017802.4(DNAAF5):c.2479G>C (p.Glu827Gln) rs1304156174
NM_017802.4(DNAAF5):c.2498A>G (p.His833Arg)
NM_017802.4(DNAAF5):c.281C>G (p.Ala94Gly) rs2484002575
NM_017802.4(DNAAF5):c.28G>C (p.Val10Leu) rs577934097
NM_017802.4(DNAAF5):c.328C>T (p.Pro110Ser) rs2484003187
NM_017802.4(DNAAF5):c.334G>A (p.Asp112Asn) rs1060502833
NM_017802.4(DNAAF5):c.35C>A (p.Ala12Asp) rs1781308664
NM_017802.4(DNAAF5):c.367G>T (p.Ala123Ser) rs1554248797
NM_017802.4(DNAAF5):c.388C>T (p.Pro130Ser) rs1469795759
NM_017802.4(DNAAF5):c.410C>T (p.Ala137Val) rs1379663317
NM_017802.4(DNAAF5):c.432_455dup (p.Ala152_Val153insLeuValGlnLeuLeuGlyLeuAla) rs1781347474
NM_017802.4(DNAAF5):c.437T>C (p.Val146Ala) rs1781349143
NM_017802.4(DNAAF5):c.454G>A (p.Ala152Thr) rs981760144
NM_017802.4(DNAAF5):c.454G>T (p.Ala152Ser) rs981760144
NM_017802.4(DNAAF5):c.464T>G (p.Leu155Arg) rs2128538515
NM_017802.4(DNAAF5):c.526C>T (p.Leu176Phe) rs1376001457
NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu) rs1781359027
NM_017802.4(DNAAF5):c.538G>A (p.Ala180Thr) rs1562369767
NM_017802.4(DNAAF5):c.556A>G (p.Ser186Gly) rs2484006839
NM_017802.4(DNAAF5):c.55G>T (p.Ala19Ser) rs1164221686
NM_017802.4(DNAAF5):c.575C>G (p.Ala192Gly) rs1781362341
NM_017802.4(DNAAF5):c.587C>T (p.Ala196Val) rs1369424681
NM_017802.4(DNAAF5):c.5C>A (p.Ala2Glu) rs2128537985
NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg) rs767022738
NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg) rs1060502834
NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser) rs149139347
NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr) rs1429128654
NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr) rs1562372184
NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu) rs201059622
NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe) rs1583482187
NM_017802.4(DNAAF5):c.830G>A (p.Arg277His) rs760388668
NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn) rs1583482252
NM_017802.4(DNAAF5):c.86G>A (p.Arg29His) rs2483999815
NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg) rs768561699
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys) rs753466171
NM_017802.4(DNAAF5):c.905+4C>T rs377210150
NM_017802.4(DNAAF5):c.905+5G>A rs781625543
NM_017802.4(DNAAF5):c.938G>T (p.Gly313Val) rs2484058959
NM_017950.4(CCDC40):c.1048G>A (p.Asp350Asn) rs771631875
NM_017950.4(CCDC40):c.1051C>G (p.Arg351Gly) rs369698429
NM_017950.4(CCDC40):c.1052G>A (p.Arg351His)
NM_017950.4(CCDC40):c.10C>T (p.Pro4Ser)
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp) rs976460197
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser) rs1290134661
NM_017950.4(CCDC40):c.1160-3C>T rs2143648368
NM_017950.4(CCDC40):c.1163C>A (p.Ala388Glu) rs199948075
NM_017950.4(CCDC40):c.1163C>T (p.Ala388Val)
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu) rs776947186
NM_017950.4(CCDC40):c.1212_1220del (p.Met404_Asn406del) rs775672044
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met) rs535461092
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu) rs770957455
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg) rs1060501720
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys) rs370720427
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met) rs375163840
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly) rs387907093
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys) rs760026148
NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser) rs2510279398
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg) rs200154414
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu) rs2038020680
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile) rs774462299
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.1537C>T (p.His513Tyr) rs2038023446
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly) rs2038024808
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu) rs947035837
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro) rs1598533116
NM_017950.4(CCDC40):c.1687A>G (p.Thr563Ala) rs780848862
NM_017950.4(CCDC40):c.1771C>G (p.Gln591Glu) rs1268068598
NM_017950.4(CCDC40):c.1780G>C (p.Glu594Gln) rs1314509837
NM_017950.4(CCDC40):c.1873A>G (p.Arg625Gly) rs2038460577
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His) rs2038461062
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del) rs750295453
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr) rs201064110
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp) rs2510283879
NM_017950.4(CCDC40):c.20C>T (p.Ala7Val)
NM_017950.4(CCDC40):c.2104G>T (p.Val702Leu) rs748948064
NM_017950.4(CCDC40):c.2126T>C (p.Ile709Thr) rs759104776
NM_017950.4(CCDC40):c.2186T>A (p.Leu729His) rs2038546674
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro) rs2038548825
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe) rs760873352
NM_017950.4(CCDC40):c.2336G>T (p.Arg779Leu) rs183809462
NM_017950.4(CCDC40):c.2395G>A (p.Asp799Asn) rs757730799
NM_017950.4(CCDC40):c.2524A>C (p.Lys842Gln) rs2038615740
NM_017950.4(CCDC40):c.2539A>T (p.Met847Leu) rs376872623
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln) rs745599843
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln) rs1000468581
NM_017950.4(CCDC40):c.2669G>A (p.Ser890Asn)
NM_017950.4(CCDC40):c.2711+6T>A
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met) rs2038663366
NM_017950.4(CCDC40):c.2731G>A (p.Glu911Lys) rs993641369
NM_017950.4(CCDC40):c.2786G>C (p.Gly929Ala) rs1020665520
NM_017950.4(CCDC40):c.2792C>T (p.Thr931Met) rs202141933
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln) rs143374313
NM_017950.4(CCDC40):c.2803G>A (p.Ala935Thr) rs2510320220
NM_017950.4(CCDC40):c.281A>T (p.Glu94Val) rs2143577082
NM_017950.4(CCDC40):c.2832G>A (p.Lys944=) rs2143759904
NM_017950.4(CCDC40):c.2836A>G (p.Arg946Gly) rs2143775943
NM_017950.4(CCDC40):c.2907G>C (p.Glu969Asp) rs745594044
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser) rs1260469681
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His) rs778921041
NM_017950.4(CCDC40):c.2976C>A (p.His992Gln) rs2038791503
NM_017950.4(CCDC40):c.2995C>A (p.Arg999Ser) rs546342011
NM_017950.4(CCDC40):c.2995C>T (p.Arg999Cys) rs546342011
NM_017950.4(CCDC40):c.2T>G (p.Met1Arg) rs2510279362
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His) rs761029623
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile) rs1257141883
NM_017950.4(CCDC40):c.3047T>C (p.Val1016Ala)
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn) rs755442488
NM_017950.4(CCDC40):c.3193A>C (p.Ile1065Leu)
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu) rs546314844
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr) rs762447884
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val) rs1060501721
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys) rs769742464
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.3350A>C (p.Glu1117Ala)
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys) rs1229219183
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu) rs367605498
NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu) rs754194373
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr) rs750628862
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr) rs769499619
NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys) rs1411060210
NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys) rs2510284200
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys) rs2143570150
NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly) rs2037239982
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.503C>T (p.Pro168Leu)
NM_017950.4(CCDC40):c.552+6T>A rs2037242845
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys) rs372456780
NM_017950.4(CCDC40):c.606C>G (p.His202Gln) rs1405383901
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp) rs753704549
NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser) rs2510288276
NM_017950.4(CCDC40):c.676+2_676+3dup rs756160039
NM_017950.4(CCDC40):c.676+4C>A rs2037454418
NM_017950.4(CCDC40):c.676+5C>A rs776691453
NM_017950.4(CCDC40):c.691G>A (p.Val231Met) rs2037491545
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser) rs2510289266
NM_017950.4(CCDC40):c.811G>A (p.Ala271Thr)
NM_017950.4(CCDC40):c.93+4A>G rs2510282415
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys) rs1555891851
NM_017950.4(CCDC40):c.950C>G (p.Thr317Ser) rs751751403
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp) rs777362493
NM_017950.4(CCDC40):c.985G>T (p.Val329Leu) rs745445950
NM_018139.3(DNAAF2):c.1030G>C (p.Val344Leu) rs769244195
NM_018139.3(DNAAF2):c.1063C>G (p.Arg355Gly) rs1360393081
NM_018139.3(DNAAF2):c.1066G>A (p.Glu356Lys) rs577991424
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3]) rs962923283
NM_018139.3(DNAAF2):c.1083CGC[3] (p.Ala365del) rs745419780
NM_018139.3(DNAAF2):c.1083CGC[6] (p.Ala364_Ala365dup) rs745419780
NM_018139.3(DNAAF2):c.1160A>G (p.Glu387Gly)
NM_018139.3(DNAAF2):c.1166G>A (p.Gly389Glu) rs1261094239
NM_018139.3(DNAAF2):c.1253C>G (p.Pro418Arg) rs886084919
NM_018139.3(DNAAF2):c.1253C>T (p.Pro418Leu) rs886084919
NM_018139.3(DNAAF2):c.1291C>G (p.Arg431Gly)
NM_018139.3(DNAAF2):c.1331C>T (p.Ala444Val) rs1247086952
NM_018139.3(DNAAF2):c.1400C>T (p.Ser467Phe) rs562335055
NM_018139.3(DNAAF2):c.1439C>T (p.Ser480Phe) rs1566511752
NM_018139.3(DNAAF2):c.1445G>C (p.Gly482Ala) rs1427910863
NM_018139.3(DNAAF2):c.1485_1486delinsTC (p.Glu496Gln)
NM_018139.3(DNAAF2):c.1586A>G (p.Gln529Arg)
NM_018139.3(DNAAF2):c.1588G>A (p.Asp530Asn) rs146272677
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala) rs547924178
NM_018139.3(DNAAF2):c.1634C>G (p.Pro545Arg) rs761139069
NM_018139.3(DNAAF2):c.1634C>T (p.Pro545Leu) rs761139069
NM_018139.3(DNAAF2):c.163G>A (p.Glu55Lys) rs2139584403
NM_018139.3(DNAAF2):c.1643T>G (p.Leu548Arg) rs1883221618
NM_018139.3(DNAAF2):c.1652A>T (p.Asp551Val) rs2502766432
NM_018139.3(DNAAF2):c.166A>G (p.Ile56Val) rs1566513759
NM_018139.3(DNAAF2):c.1692A>T (p.Gln564His) rs1389375533
NM_018139.3(DNAAF2):c.169A>G (p.Thr57Ala) rs1021747866
NM_018139.3(DNAAF2):c.178G>A (p.Glu60Lys) rs1180545101
NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr) rs964761675
NM_018139.3(DNAAF2):c.181C>G (p.Arg61Gly) rs1253214739
NM_018139.3(DNAAF2):c.1931_1932delinsGT (p.Lys644Ser) rs2139574212
NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala) rs1883055893
NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val) rs1594603805
NM_018139.3(DNAAF2):c.2027C>G (p.Ser676Cys)
NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer) rs752488141
NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe) rs1337764174
NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn) rs2502752935
NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr) rs2502752859
NM_018139.3(DNAAF2):c.2307_2311del (p.Asn769fs) rs759443393
NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys) rs1363447010
NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys) rs778899267
NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln) rs778899267
NM_018139.3(DNAAF2):c.238A>C (p.Thr80Pro) rs1883300171
NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr) rs1882983539
NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter) rs1882982458
NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile) rs1566507420
NM_018139.3(DNAAF2):c.2489del (p.Asn830fs) rs2502751623
NM_018139.3(DNAAF2):c.250G>C (p.Gly84Arg) rs566365192
NM_018139.3(DNAAF2):c.260G>A (p.Arg87His) rs1555328120
NM_018139.3(DNAAF2):c.278G>T (p.Cys93Phe) rs904534333
NM_018139.3(DNAAF2):c.295G>A (p.Gly99Ser) rs1182493444
NM_018139.3(DNAAF2):c.306C>A (p.Ser102Arg) rs1555328112
NM_018139.3(DNAAF2):c.331C>T (p.Arg111Trp) rs761666035
NM_018139.3(DNAAF2):c.343C>T (p.Pro115Ser) rs931555570
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del) rs2139583907
NM_018139.3(DNAAF2):c.386G>A (p.Arg129His) rs1294565597
NM_018139.3(DNAAF2):c.418A>G (p.Met140Val) rs572101185
NM_018139.3(DNAAF2):c.421G>A (p.Val141Ile) rs2139583849
NM_018139.3(DNAAF2):c.428A>T (p.Asp143Val) rs1883290227
NM_018139.3(DNAAF2):c.436T>G (p.Phe146Val) rs1207595112
NM_018139.3(DNAAF2):c.455C>A (p.Ala152Glu) rs1594609551
NM_018139.3(DNAAF2):c.506T>C (p.Leu169Pro) rs1208445913
NM_018139.3(DNAAF2):c.532G>T (p.Val178Leu) rs767502889
NM_018139.3(DNAAF2):c.580G>C (p.Gly194Arg) rs557931447
NM_018139.3(DNAAF2):c.593C>T (p.Ala198Val) rs1265820367
NM_018139.3(DNAAF2):c.59T>A (p.Val20Asp) rs1566513874
NM_018139.3(DNAAF2):c.650C>T (p.Pro217Leu) rs1594609205
NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln) rs755978191
NM_018139.3(DNAAF2):c.668A>G (p.Asp223Gly) rs1371877589
NM_018139.3(DNAAF2):c.673C>T (p.Pro225Ser) rs752558578
NM_018139.3(DNAAF2):c.683A>G (p.Tyr228Cys) rs376557810
NM_018139.3(DNAAF2):c.727G>A (p.Glu243Lys) rs727504815
NM_018139.3(DNAAF2):c.830G>A (p.Ser277Asn) rs758192511
NM_018139.3(DNAAF2):c.838C>T (p.Pro280Ser) rs2139582764
NM_018139.3(DNAAF2):c.843T>A (p.His281Gln) rs753291588
NM_018139.3(DNAAF2):c.895G>C (p.Ala299Pro) rs748369356
NM_018139.3(DNAAF2):c.97C>T (p.Arg33Trp)
NM_018139.3(DNAAF2):c.986G>A (p.Gly329Asp) rs774079854
NM_021147.5(CCNO):c.132T>G (p.His44Gln) rs1745660550
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn) rs1745658924
NM_021147.5(CCNO):c.185A>G (p.Glu62Gly) rs1745657575
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro) rs1488154964
NM_021147.5(CCNO):c.248_262dup (p.Leu83_Ala87dup) rs1554020078
NM_021147.5(CCNO):c.272C>G (p.Ala91Gly)
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu) rs1554020059
NM_021147.5(CCNO):c.381+8G>A rs757379260
NM_021147.5(CCNO):c.398G>T (p.Arg133Leu) rs1554020012
NM_021147.5(CCNO):c.401G>A (p.Cys134Tyr) rs2478549509
NM_021147.5(CCNO):c.423C>G (p.Ile141Met) rs1472120280
NM_021147.5(CCNO):c.445C>A (p.Leu149Ile) rs1170297559
NM_021147.5(CCNO):c.457T>C (p.Ser153Pro)
NM_021147.5(CCNO):c.488G>T (p.Arg163Leu) rs766335987
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser) rs755937476
NM_021147.5(CCNO):c.54_55delinsTT (p.Arg18_Arg19delinsSerTrp) rs1745665257
NM_021147.5(CCNO):c.568-1G>A rs1312679513
NM_021147.5(CCNO):c.575T>G (p.Val192Gly) rs998170955
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis) rs1745587128
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly) rs368825448
NM_021147.5(CCNO):c.800A>G (p.Glu267Gly) rs2478543119
NM_021147.5(CCNO):c.820G>T (p.Ala274Ser) rs1745578274
NM_021147.5(CCNO):c.851C>A (p.Ala284Glu) rs1000287085
NM_021147.5(CCNO):c.978A>G (p.Ile326Met) rs1554019818
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys) rs2509752469
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) rs199726930
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu) rs199726930
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu) rs1276398945
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) rs567531807
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp) rs773581570
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly) rs375896715
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys) rs1204464128
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg) rs1060502200
NM_023036.6(DNAI2):c.120G>T (p.Gln40His) rs1274866190
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met) rs564337753
NM_023036.6(DNAI2):c.1309T>A (p.Phe437Ile) rs150182125
NM_023036.6(DNAI2):c.1348-4A>G rs2509766352
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met) rs371989598
NM_023036.6(DNAI2):c.1495-3C>T rs555938890
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys) rs2053558785
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg) rs1211582211
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) rs538543314
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del) rs776613484
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His) rs117932646
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp) rs1282053872
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr) rs2509682283
NM_023036.6(DNAI2):c.1722+1G>A rs2053569243
NM_023036.6(DNAI2):c.1729C>T (p.Pro577Ser)
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg) rs749213632
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg) rs1486049035
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln) rs147470752
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp) rs1400041025
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys) rs2143902905
NM_023036.6(DNAI2):c.253G>A (p.Val85Met) rs749468635
NM_023036.6(DNAI2):c.260C>T (p.Pro87Leu)
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg) rs2051638403
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser) rs764225804
NM_023036.6(DNAI2):c.340_341delinsTT (p.Gly114Phe)
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val) rs1271406619
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr) rs779060081
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu) rs770624431
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro) rs777425543
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln) rs2143941130
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn) rs1567850585
NM_023036.6(DNAI2):c.609G>A (p.Leu203=) rs2143941710
NM_023036.6(DNAI2):c.621C>A (p.Asn207Lys)
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg) rs1060502201
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val) rs2509710481
NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu) rs777662498
NM_023036.6(DNAI2):c.724G>C (p.Ala242Pro)
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly) rs137852998
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del) rs2144035143
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr) rs2052738856
NM_080860.4(RSPH1):c.212A>G (p.Tyr71Cys) rs1047978632
NM_080860.4(RSPH1):c.240C>T (p.Gly80=) rs2054248887
NM_080860.4(RSPH1):c.253C>T (p.Pro85Ser) rs2146664507
NM_080860.4(RSPH1):c.317A>G (p.Tyr106Cys) rs2054181407
NM_080860.4(RSPH1):c.340A>G (p.Thr114Ala) rs764166547
NM_080860.4(RSPH1):c.39A>T (p.Gly13=) rs2054286476
NM_080860.4(RSPH1):c.412G>A (p.Val138Ile) rs747184332
NM_080860.4(RSPH1):c.470A>G (p.His157Arg) rs1226405216
NM_080860.4(RSPH1):c.598G>A (p.Glu200Lys) rs2517333713
NM_080860.4(RSPH1):c.638A>C (p.Gln213Pro) rs1403144349
NM_080860.4(RSPH1):c.670C>G (p.Leu224Val) rs375795708
NM_080860.4(RSPH1):c.670C>T (p.Leu224Phe) rs375795708
NM_080860.4(RSPH1):c.695A>T (p.Asp232Val) rs748503692
NM_080860.4(RSPH1):c.709G>A (p.Asp237Asn) rs368695982
NM_080860.4(RSPH1):c.712G>A (p.Ala238Thr) rs200745905
NM_080860.4(RSPH1):c.712G>C (p.Ala238Pro) rs200745905
NM_080860.4(RSPH1):c.727+6G>A rs374688679
NM_080860.4(RSPH1):c.727+6G>C rs374688679
NM_080860.4(RSPH1):c.748G>A (p.Glu250Lys) rs1057278008
NM_080860.4(RSPH1):c.751G>T (p.Ala251Ser) rs2517329617
NM_080860.4(RSPH1):c.788A>G (p.Asp263Gly) rs2054043796
NM_080860.4(RSPH1):c.812C>A (p.Ala271Glu) rs2517329348
NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter) rs2054042523
NM_080860.4(RSPH1):c.850GAG[1] (p.Glu285del) rs562822292
NM_080860.4(RSPH1):c.877+1G>A
NM_145038.5(DRC1):c.1029-4C>G rs2148000514
NM_145038.5(DRC1):c.1066_1067delinsAT (p.Ala356Ile) rs1572379809
NM_145038.5(DRC1):c.1068_1069inv (p.Lys357Glu)
NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup) rs1678261374
NM_145038.5(DRC1):c.1090GAG[1] (p.Glu365del) rs765070685
NM_145038.5(DRC1):c.1123C>A (p.Arg375Ser) rs145305515
NM_145038.5(DRC1):c.1151A>C (p.Gln384Pro) rs1663796271
NM_145038.5(DRC1):c.115C>G (p.Arg39Gly) rs778388067
NM_145038.5(DRC1):c.1160T>G (p.Met387Arg) rs1663796438
NM_145038.5(DRC1):c.1188G>T (p.Glu396Asp) rs374257901
NM_145038.5(DRC1):c.1195_1196inv (p.Trp399Gln)
NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys) rs2465429847
NM_145038.5(DRC1):c.1263G>C (p.Arg421Ser) rs778963656
NM_145038.5(DRC1):c.1338T>G (p.Ile446Met) rs150721188
NM_145038.5(DRC1):c.134C>T (p.Ala45Val) rs779282480
NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys) rs777051751
NM_145038.5(DRC1):c.1369A>T (p.Ile457Leu) rs1414998432
NM_145038.5(DRC1):c.1394C>T (p.Ser465Leu)
NM_145038.5(DRC1):c.1418C>A (p.Ala473Asp) rs199574440
NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp) rs759743934
NM_145038.5(DRC1):c.1448T>C (p.Leu483Ser) rs1663924677
NM_145038.5(DRC1):c.145G>T (p.Ala49Ser) rs771727269
NM_145038.5(DRC1):c.1487T>G (p.Leu496Arg) rs2148003720
NM_145038.5(DRC1):c.1503_1505del (p.Asp501del) rs778078856
NM_145038.5(DRC1):c.1511G>A (p.Gly504Glu) rs2148004449
NM_145038.5(DRC1):c.1511_1512delinsTA (p.Gly504Val) rs2148004453
NM_145038.5(DRC1):c.1524G>C (p.Glu508Asp) rs753664425
NM_145038.5(DRC1):c.155G>T (p.Arg52Leu) rs1341994586
NM_145038.5(DRC1):c.1612G>A (p.Glu538Lys) rs2465444986
NM_145038.5(DRC1):c.1631A>G (p.Tyr544Cys) rs775900881
NM_145038.5(DRC1):c.1679C>T (p.Ser560Phe) rs1663980286
NM_145038.5(DRC1):c.1684C>T (p.Leu562Phe)
NM_145038.5(DRC1):c.169G>C (p.Glu57Gln) rs1311428069
NM_145038.5(DRC1):c.1801A>C (p.Ser601Arg) rs1664059066
NM_145038.5(DRC1):c.1816_1818del (p.Glu606del) rs2465451261
NM_145038.5(DRC1):c.1825G>A (p.Glu609Lys) rs1664060049
NM_145038.5(DRC1):c.1841C>T (p.Pro614Leu) rs1664060879
NM_145038.5(DRC1):c.1849C>T (p.Pro617Ser) rs1664062937
NM_145038.5(DRC1):c.1897G>A (p.Val633Ile) rs12623642
NM_145038.5(DRC1):c.1919G>A (p.Arg640Lys) rs1428226382
NM_145038.5(DRC1):c.1927C>T (p.Arg643Trp)
NM_145038.5(DRC1):c.1941G>C (p.Arg647Ser)
NM_145038.5(DRC1):c.1946A>C (p.Gln649Pro) rs1465586403
NM_145038.5(DRC1):c.1955T>G (p.Val652Gly) rs752777750
NM_145038.5(DRC1):c.1967C>T (p.Ser656Phe) rs2148007712
NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro) rs200927965
NM_145038.5(DRC1):c.2045C>T (p.Thr682Ile) rs377090460
NM_145038.5(DRC1):c.2068G>A (p.Val690Ile) rs1553345147
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs) rs1558457993
NM_145038.5(DRC1):c.2081G>C (p.Arg694Thr) rs372797665
NM_145038.5(DRC1):c.2102A>G (p.Asn701Ser) rs1463332900
NM_145038.5(DRC1):c.2135A>G (p.Gln712Arg)
NM_145038.5(DRC1):c.2140C>A (p.Leu714Ile) rs1572389551
NM_145038.5(DRC1):c.2183A>T (p.Gln728Leu) rs2148010186
NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys) rs2465359374
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) rs763631774
NM_145038.5(DRC1):c.220A>C (p.Lys74Gln) rs776739782
NM_145038.5(DRC1):c.239G>A (p.Arg80Gln) rs148643291
NM_145038.5(DRC1):c.320A>G (p.His107Arg) rs1663137062
NM_145038.5(DRC1):c.356+3A>G rs1572361252
NM_145038.5(DRC1):c.379G>T (p.Val127Phe) rs1199545365
NM_145038.5(DRC1):c.396C>A (p.Asp132Glu) rs770549722
NM_145038.5(DRC1):c.39C>A (p.Asn13Lys) rs757114521
NM_145038.5(DRC1):c.409A>G (p.Ile137Val) rs1333711600
NM_145038.5(DRC1):c.418A>C (p.Lys140Gln) rs201245045
NM_145038.5(DRC1):c.446T>C (p.Ile149Thr)
NM_145038.5(DRC1):c.479A>C (p.Gln160Pro) rs762794275
NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val) rs1572363707
NM_145038.5(DRC1):c.513_515del (p.Lys171del) rs773138367
NM_145038.5(DRC1):c.5A>T (p.Asn2Ile) rs2465338579
NM_145038.5(DRC1):c.616C>T (p.Arg206Trp) rs1160786100
NM_145038.5(DRC1):c.674T>A (p.Ile225Asn) rs756459461
NM_145038.5(DRC1):c.686T>C (p.Phe229Ser) rs2147991541
NM_145038.5(DRC1):c.712G>T (p.Ala238Ser) rs1663414723
NM_145038.5(DRC1):c.793A>C (p.Lys265Gln) rs2465399324
NM_145038.5(DRC1):c.985G>A (p.Glu329Lys) rs1060501406
NM_152732.5(RSPH9):c.118C>G (p.Arg40Gly) rs937089073
NM_152732.5(RSPH9):c.122A>G (p.Tyr41Cys) rs2532698261
NM_152732.5(RSPH9):c.124G>C (p.Asp42His) rs1197738235
NM_152732.5(RSPH9):c.157_174del (p.Leu53_Tyr58del)
NM_152732.5(RSPH9):c.191G>A (p.Ser64Asn) rs1770719497
NM_152732.5(RSPH9):c.205G>T (p.Ala69Ser) rs1477090977
NM_152732.5(RSPH9):c.24_25delinsTG (p.Ser9Ala) rs2532697245
NM_152732.5(RSPH9):c.25T>C (p.Ser9Pro) rs767450427
NM_152732.5(RSPH9):c.271G>C (p.Glu91Gln) rs2127891420
NM_152732.5(RSPH9):c.274A>C (p.Met92Leu)
NM_152732.5(RSPH9):c.290C>T (p.Ser97Phe) rs2532732769
NM_152732.5(RSPH9):c.304C>T (p.Arg102Cys)
NM_152732.5(RSPH9):c.312G>C (p.Met104Ile) rs2127891583
NM_152732.5(RSPH9):c.386A>G (p.Glu129Gly) rs751900140
NM_152732.5(RSPH9):c.389T>C (p.Ile130Thr) rs935743330
NM_152732.5(RSPH9):c.401T>C (p.Ile134Thr) rs2532769510
NM_152732.5(RSPH9):c.406G>C (p.Glu136Gln) rs1771919718
NM_152732.5(RSPH9):c.416G>A (p.Arg139His) rs142363099
NM_152732.5(RSPH9):c.445A>G (p.Lys149Glu) rs2532769792
NM_152732.5(RSPH9):c.449C>T (p.Ala150Val) rs1256083922
NM_152732.5(RSPH9):c.577C>G (p.Pro193Ala) rs373236553
NM_152732.5(RSPH9):c.591_593del (p.Lys197del) rs776840532
NM_152732.5(RSPH9):c.596A>T (p.Lys199Met) rs1772075736
NM_152732.5(RSPH9):c.668A>C (p.Lys223Thr) rs772608546
NM_152732.5(RSPH9):c.799G>A (p.Glu267Lys) rs1554149875
NM_152732.5(RSPH9):c.808A>C (p.Met270Leu) rs769366839
NM_152732.5(RSPH9):c.825G>A (p.Met275Ile)
NM_178452.5(DNAAF1):c.1306_1307ins156
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln) rs755873006
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg) rs771177373
NM_178452.6(DNAAF1):c.1205A>G (p.Glu402Gly)
NM_178452.6(DNAAF1):c.124+6G>A rs1479123454
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg) rs766064232
NM_178452.6(DNAAF1):c.1243A>G (p.Thr415Ala)
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser) rs2151265896
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del) rs1555525141
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val) rs1029522235
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup) rs2088246526
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp) rs2507470388
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His) rs2151266342
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln) rs1242687898
NM_178452.6(DNAAF1):c.1343C>G (p.Pro448Arg)
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup) rs2088249327
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val) rs2088254831
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del) rs2088255429
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu) rs2151267135
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser) rs2088261172
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp) rs1192806420
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg) rs557532640
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser) rs561606647
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp) rs1481696884
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys) rs886052370
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met) rs780536622
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys) rs1415853219
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser) rs774502745
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met) rs1239119335
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn) rs2088409947
NM_178452.6(DNAAF1):c.1645-5T>C rs2507515348
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala) rs2151278226
NM_178452.6(DNAAF1):c.1698+1G>C
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln) rs199727292
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu) rs199727292
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp) rs2151206382
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn) rs1488717484
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met) rs2088633060
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val) rs2507527544
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr) rs1597397944
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val) rs774702739
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr) rs2507528252
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe) rs1184177131
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser) rs1017412114
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His) rs111414382
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val) rs2507529776
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His) rs113845425
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys) rs1376964064
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu) rs1597498231
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn) rs2288023
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.2065+1del rs1567571110
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly) rs1567574383
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys) rs374905502
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser) rs2088819587
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser) rs1597398065
NM_178452.6(DNAAF1):c.215G>T (p.Gly72Val)
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu) rs775816960
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu) rs2087061568
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) rs200440212
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys) rs149063283
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala) rs1441002883
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys) rs375812500
NM_178452.6(DNAAF1):c.349A>C (p.Lys117Gln)
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser) rs368031148
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) rs34897947
NM_178452.6(DNAAF1):c.392T>G (p.Leu131Arg)
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys) rs538582505
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His) rs371065429
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val) rs2507367156
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro) rs749082639
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del) rs1555521110
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser) rs752043457
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro) rs2087331937
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val) rs746506056
NM_178452.6(DNAAF1):c.604A>C (p.Met202Leu)
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr) rs2087389150
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg) rs1060502830
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe) rs1453223029
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met) rs2087394618
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn) rs2151234537
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro) rs1555522543
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys) rs373103805
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys) rs867096947
NM_178452.6(DNAAF1):c.863+6A>C rs1303480013
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val) rs745857720
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg) rs1479444145
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp) rs752852857
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys) rs1567554737
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln) rs780631154
NM_178452.6(DNAAF1):c.948G>T (p.Lys316Asn)
NM_181426.2(CCDC39):c.1019A>G (p.His340Arg) rs2108424748
NM_181426.2(CCDC39):c.1025A>G (p.Glu342Gly) rs1553804760
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile) rs957354905
NM_181426.2(CCDC39):c.1133A>G (p.Glu378Gly) rs1718205726
NM_181426.2(CCDC39):c.1167+1248A>G rs1718166306
NM_181426.2(CCDC39):c.1168-14A>G rs2473810151
NM_181426.2(CCDC39):c.1198G>A (p.Gly400Ser) rs147383873
NM_181426.2(CCDC39):c.1318C>G (p.Leu440Val)
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) rs6769457
NM_181426.2(CCDC39):c.136C>T (p.Arg46Cys)
NM_181426.2(CCDC39):c.1415_1417del (p.Ile472del) rs1336978771
NM_181426.2(CCDC39):c.1460T>C (p.Leu487Pro) rs1718084209
NM_181426.2(CCDC39):c.1525C>T (p.His509Tyr) rs760511976
NM_181426.2(CCDC39):c.1621G>A (p.Asp541Asn) rs764908281
NM_181426.2(CCDC39):c.1633A>G (p.Lys545Glu) rs2108419987
NM_181426.2(CCDC39):c.1696C>T (p.Leu566Phe) rs1225593392
NM_181426.2(CCDC39):c.1697T>C (p.Leu566Pro) rs1060502868
NM_181426.2(CCDC39):c.1708C>G (p.Arg570Gly) rs763756005
NM_181426.2(CCDC39):c.1709G>T (p.Arg570Leu) rs369208682
NM_181426.2(CCDC39):c.1747C>A (p.Leu583Ile) rs747263434
NM_181426.2(CCDC39):c.1793A>G (p.Glu598Gly)
NM_181426.2(CCDC39):c.1874G>A (p.Ser625Asn) rs769223754
NM_181426.2(CCDC39):c.1922G>A (p.Arg641Lys) rs1717697292
NM_181426.2(CCDC39):c.2081C>T (p.Ala694Val) rs1717386263
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys) rs1717384352
NM_181426.2(CCDC39):c.2152C>G (p.Pro718Ala)
NM_181426.2(CCDC39):c.2158+6T>C rs1717382696
NM_181426.2(CCDC39):c.215T>C (p.Leu72Pro) rs2473826351
NM_181426.2(CCDC39):c.2170G>A (p.Glu724Lys) rs759035327
NM_181426.2(CCDC39):c.2178A>C (p.Lys726Asn) rs2108406240
NM_181426.2(CCDC39):c.2266-3C>G rs2473778217
NM_181426.2(CCDC39):c.22G>C (p.Glu8Gln) rs1553807998
NM_181426.2(CCDC39):c.2371G>A (p.Glu791Lys) rs1576930055
NM_181426.2(CCDC39):c.2381C>G (p.Pro794Arg) rs7613155
NM_181426.2(CCDC39):c.2406+2dup rs778375693
NM_181426.2(CCDC39):c.2528T>C (p.Val843Ala) rs1213159340
NM_181426.2(CCDC39):c.2553G>T (p.Glu851Asp) rs371713454
NM_181426.2(CCDC39):c.2622C>T (p.Gly874=) rs1279047184
NM_181426.2(CCDC39):c.2650C>A (p.His884Asn)
NM_181426.2(CCDC39):c.2670-10T>G rs2473773730
NM_181426.2(CCDC39):c.269C>T (p.Ala90Val) rs2108430167
NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu) rs745692945
NM_181426.2(CCDC39):c.2800_2802dup (p.Val934_Lys935insVal) rs556950924
NM_181426.2(CCDC39):c.290T>C (p.Val97Ala) rs1711752710
NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu) rs763798585
NM_181426.2(CCDC39):c.29A>T (p.His10Leu) rs752194812
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) rs61733582
NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro) rs766541691
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.364A>G (p.Ile122Val) rs371541452
NM_181426.2(CCDC39):c.367T>G (p.Phe123Val) rs2108429552
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly) rs757331133
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile) rs1711695591
NM_181426.2(CCDC39):c.550G>A (p.Glu184Lys)
NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn) rs1296379276
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys) rs775366536
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys) rs749794148
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) rs771715698
NM_181426.2(CCDC39):c.664_666del (p.Glu222del) rs1711686691
NM_181426.2(CCDC39):c.721A>G (p.Ile241Val) rs1711684068
NM_181426.2(CCDC39):c.739-7A>G rs2108426504
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg) rs757699907
NM_181426.2(CCDC39):c.811A>G (p.Ser271Gly) rs201699189
NM_181426.2(CCDC39):c.830C>T (p.Thr277Ile) rs1711545165
NM_181426.2(CCDC39):c.904A>G (p.Thr302Ala) rs1711543464
NM_181426.2(CCDC39):c.934G>T (p.Asp312Tyr) rs1461822875
NM_181426.2(CCDC39):c.985A>G (p.Arg329Gly) rs2473814519
NM_181426.2(CCDC39):c.991A>T (p.Asn331Tyr) rs1553804772
NM_213607.3(DNAAF19):c.146G>A (p.Gly49Asp) rs148724732
NM_213607.3(DNAAF19):c.146G>C (p.Gly49Ala) rs148724732
NM_213607.3(DNAAF19):c.226C>T (p.His76Tyr) rs758749891
NM_213607.3(DNAAF19):c.276+4G>T rs373891184
NM_213607.3(DNAAF19):c.276G>A (p.Pro92=) rs749064353
NM_213607.3(DNAAF19):c.325T>G (p.Trp109Gly) rs780151272
NM_213607.3(DNAAF19):c.332G>T (p.Arg111Leu) rs367570529
NM_213607.3(DNAAF19):c.343A>T (p.Ser115Cys) rs2508900148
NM_213607.3(DNAAF19):c.448G>T (p.Ala150Ser) rs2508900661
NM_213607.3(DNAAF19):c.59T>C (p.Leu20Pro) rs2145607592
NM_213607.3(DNAAF19):c.603G>T (p.Met201Ile) rs1270530658

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