ClinVar Miner

List of variants reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33292
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HGVS dbSNP gnomAD frequency
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_213607.3(CCDC103):c.*4G>A rs8079308 0.26209
NM_002055.5(GFAP):c.*1522T>C rs17027 0.26200
NM_213607.2(CCDC103):c.-164T>G rs2277617 0.25672
NM_001369.3(DNAH5):c.1537-102T>A rs67065537 0.24742
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_018719.5(CDCA7L):c.*501T>C rs12700325 0.20592
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_001369.3(DNAH5):c.5271+72C>T rs16902837 0.18085
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_002055.5(GFAP):c.*338C>T rs8067254 0.14346
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_002055.5(GFAP):c.*814T>A rs3744470 0.12217
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_002055.5(GFAP):c.*1001G>A rs1042329 0.10683
NM_002055.5(GFAP):c.*1620C>T rs7049 0.10679
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_023073.3(CPLANE1):c.-234G>C rs80164363 0.08017
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_178452.6(DNAAF1):c.-83dup rs149813685 0.04983
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_016464.4(TMEM138):c.-308A>G rs7120780 0.04768
NM_001375405.1(CEP120):c.1431-7A>T rs63388160 0.04585
NM_031427.4(DNAL1):c.*7710_*7711dup rs201343251 0.04579
NM_001375405.1(CEP120):c.1431-12_1431-9del rs769322546 0.04498
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.03789
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03504
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.03062
NM_001375405.1(CEP120):c.1431-13_1431-9del rs772770081 0.03054
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_001375405.1(CEP120):c.1431-8A>T rs761915664 0.02985
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001369.3(DNAH5):c.2578-7T>G rs201833201 0.02378
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) rs9917821 0.01995
NM_012144.4(DNAI1):c.-178G>C rs3802429 0.01938
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578 0.01743
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_001372.4(DNAH9):c.306T>C (p.Phe102=) rs28507962 0.01633
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01450
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=) rs74557452 0.01439
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_001369.3(DNAH5):c.*1389C>T rs77701143 0.01404
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052 0.01305
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=) rs7156297 0.01255
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123 0.01149
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_023036.6(DNAI2):c.55+6G>A rs118104009 0.01132
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_006346.4(PIBF1):c.1567C>A (p.His523Asn) rs115858628 0.00971
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val) rs55953014 0.00935
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=) rs61746800 0.00913
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_198075.4(LRRC56):c.655G>A (p.Val219Met) rs138291757 0.00885
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00860
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_001369.3(DNAH5):c.*1502C>T rs144265705 0.00842
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr) rs117646559 0.00829
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_012144.4(DNAI1):c.1401+17G>A rs138412741 0.00773
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile) rs143181834 0.00771
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_181426.2(CCDC39):c.*325C>T rs73883902 0.00748
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys) rs28549882 0.00739
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_001010892.3(RSPH4A):c.*250G>T rs58311062 0.00681
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val) rs35110984 0.00656
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_198075.4(LRRC56):c.544C>A (p.Gln182Lys) rs61736743 0.00647
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=) rs35763780 0.00645
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935 0.00642
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_001384732.1(CPLANE1):c.*396T>C rs115541718 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001243156.2(TAF1C):c.*1033A>G rs4150186 0.00632
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=) rs78763603 0.00628
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_015690.5(STK36):c.2518T>G (p.Leu840Val) rs36099639 0.00622
NM_001369.3(DNAH5):c.2052+22C>A rs150480592 0.00621
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656 0.00615
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=) rs191011620 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_145038.5(DRC1):c.1824G>A (p.Glu608=) rs1402962 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001369.3(DNAH5):c.*1156C>T rs115907706 0.00534
NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val) rs112505934 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=) rs116473422 0.00510
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys) rs61730241 0.00500
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser) rs150966144 0.00490
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=) rs766376194 0.00481
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_001082538.3(TCTN1):c.-46G>C rs538932401 0.00473
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001010892.3(RSPH4A):c.*491T>C rs116191088 0.00466
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_001372.4(DNAH9):c.11284-20A>G rs113483879 0.00465
NM_001277115.2(DNAH11):c.2275-15G>T rs60290948 0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001277115.2(DNAH11):c.4726-15T>C rs17144822 0.00445
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_002055.5(GFAP):c.*1074C>T rs117405516 0.00442
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_015910.7(WDPCP):c.-188G>C rs187916591 0.00436
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_033028.5(BBS4):c.*43G>T rs144706746 0.00421
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001384732.1(CPLANE1):c.*807A>G rs78011227 0.00418
NM_012144.4(DNAI1):c.-116T>C rs62619982 0.00418
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00417
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00410
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00396
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_023036.6(DNAI2):c.124G>A (p.Val42Met) rs151176313 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_024809.5(TCTN2):c.1505+3G>C rs111574617 0.00377
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=) rs117723546 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362 0.00368
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_014704.4(CEP104):c.1317+17A>C rs370703159 0.00363
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) rs144106494 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=) rs35252724 0.00346
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp) rs199825346 0.00332
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg) rs144474011 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=) rs111586634 0.00328
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_017777.3(MKS1):c.-64T>C rs372127517 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=) rs117483481 0.00323
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=) rs117747863 0.00319
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp) rs72657303 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg) rs148930400 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val) rs752257877 0.00306
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00305
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_001375405.1(CEP120):c.2104-13_2104-12insTA rs749949328 0.00302
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_018051.5(DYNC2I1):c.1040C>T (p.Pro347Leu) rs73529717 0.00295
NM_018076.5(ODAD2):c.383-5G>T rs1286999429 0.00294
NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met) rs111574749 0.00292
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_152618.3(BBS12):c.-61G>C rs59440868 0.00282
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=) rs199934107 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_001034853.2(RPGR):c.2499T>G (p.Gly833=) rs752979508 0.00274
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_001372.4(DNAH9):c.6810C>T (p.His2270=) rs61732585 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln) rs73167274 0.00265
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00262
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00253
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln) rs148328402 0.00251
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00249
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln) rs61729351 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln) rs61745877 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His) rs201299120 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala) rs201379908 0.00240
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00238
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) rs137862641 0.00237
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039 0.00236
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_015512.5(DNAH1):c.3350A>G (p.Gln1117Arg) rs201527318 0.00232
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_018076.5(ODAD2):c.27G>A (p.Thr9=) rs139724964 0.00224
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_001206927.2(DNAH8):c.10678G>A (p.Ala3560Thr) rs141263020 0.00219
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_006346.4(PIBF1):c.2138A>C (p.His713Pro) rs41286070 0.00217
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_015512.5(DNAH1):c.8649G>C (p.Glu2883Asp) rs79689614 0.00215
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val) rs140935840 0.00213
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_018051.5(DYNC2I1):c.2210C>T (p.Thr737Met) rs138296655 0.00209
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00208
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00208
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys) rs185737637 0.00207
NM_001206927.2(DNAH8):c.13381C>T (p.Arg4461Cys) rs143714496 0.00205
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_016616.5(NME8):c.388-3T>C rs141307270 0.00205
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val) rs145619075 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211 0.00202
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_016616.5(NME8):c.126C>T (p.Cys42=) rs138311368 0.00201
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr) rs6510 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_017802.4(DNAAF5):c.477G>A (p.Ala159=) rs78581255 0.00199
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) rs201259375 0.00198
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_001206927.2(DNAH8):c.5527G>C (p.Asp1843His) rs61758415 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_031924.8(RSPH3):c.-153C>T rs41267755 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00190
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp) rs200954442 0.00189
NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=) rs143732515 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069 0.00189
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_018076.5(ODAD2):c.390A>G (p.Arg130=) rs12777433 0.00184
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu) rs142031266 0.00181
NM_033124.5(CCDC65):c.233A>T (p.His78Leu) rs115782087 0.00181
NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys) rs139317756 0.00181
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_015512.5(DNAH1):c.10216G>A (p.Val3406Ile) rs201752275 0.00178
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001481.3(GAS8):c.1073A>G (p.Gln358Arg) rs145962792 0.00177
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro) rs138868323 0.00177
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_015512.5(DNAH1):c.1442G>A (p.Arg481Gln) rs199870577 0.00176
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_145045.5(ODAD3):c.398G>A (p.Arg133His) rs112493796 0.00172
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu) rs148823991 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_001206927.2(DNAH8):c.2174C>G (p.Ala725Gly) rs61757621 0.00170
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_018051.5(DYNC2I1):c.1778G>A (p.Arg593Gln) rs58538724 0.00165
NM_052844.4(DYNC2I2):c.107G>T (p.Gly36Val) rs375929394 0.00165
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_021147.5(CCNO):c.1007C>T (p.Pro336Leu) rs115697956 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_001206927.2(DNAH8):c.8909C>T (p.Ser2970Phe) rs150571615 0.00161
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_213607.3(CCDC103):c.627G>A (p.Glu209=) rs200474997 0.00161
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr) rs150723128 0.00160
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00159
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.5882+6G>A rs377640010 0.00158
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) rs193231165 0.00156
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_001481.3(GAS8):c.277G>A (p.Val93Met) rs143559732 0.00154
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln) rs116069486 0.00153
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001256715.2(DNAAF3):c.913-8A>G rs71367156 0.00151
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=) rs200603138 0.00151
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_001481.3(GAS8):c.808G>C (p.Ala270Pro) rs141125763 0.00150
NM_021147.5(CCNO):c.134C>A (p.Pro45His) rs139606873 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=) rs190978775 0.00149
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) rs151184011 0.00149
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00149
NM_015512.5(DNAH1):c.1912G>A (p.Asp638Asn) rs201988957 0.00148
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383 0.00147
NM_198075.4(LRRC56):c.424-9G>A rs201091147 0.00147
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001206927.2(DNAH8):c.13214C>T (p.Thr4405Met) rs115630842 0.00146
NM_001206927.2(DNAH8):c.6856A>G (p.Ser2286Gly) rs113909197 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe) rs111375012 0.00144
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362 0.00143
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001206927.2(DNAH8):c.5209C>T (p.Arg1737Cys) rs146241522 0.00141
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_001206927.2(DNAH8):c.9643A>T (p.Asn3215Tyr) rs145107574 0.00140
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val) rs72657339 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe) rs200581574 0.00138
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039 0.00138
NM_015512.5(DNAH1):c.6460A>G (p.Arg2154Gly) rs146002323 0.00138
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_001206927.2(DNAH8):c.11379G>A (p.Thr3793=) rs112903128 0.00137
NM_015512.5(DNAH1):c.1384C>T (p.Pro462Ser) rs201341419 0.00137
NM_015512.5(DNAH1):c.1688G>A (p.Ser563Asn) rs137937801 0.00137
NM_018076.5(ODAD2):c.1654A>C (p.Lys552Gln) rs138205369 0.00137
NM_018076.5(ODAD2):c.2496-7A>G rs201203284 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_017802.4(DNAAF5):c.1931+8C>T rs145254596 0.00135
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu) rs761617724 0.00134
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His) rs144910893 0.00134
NM_017802.4(DNAAF5):c.1783+10C>T rs189816059 0.00134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=) rs112102932 0.00132
NM_080860.4(RSPH1):c.870G>A (p.Met290Ile) rs140450252 0.00132
NM_001256714.1(DNAAF3):c.2T>C (p.Met1Thr) rs200365972 0.00131
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00131
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_015512.5(DNAH1):c.10915G>A (p.Ala3639Thr) rs138940904 0.00131
NM_015512.5(DNAH1):c.5155C>T (p.Leu1719Phe) rs201948157 0.00130
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_033124.5(CCDC65):c.203T>C (p.Val68Ala) rs118060953 0.00129
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=) rs149045168 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr) rs150814892 0.00127
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) rs146847253 0.00126
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=) rs150994380 0.00124
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) rs146637219 0.00124
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_145038.5(DRC1):c.2021A>T (p.Gln674Leu) rs202097155 0.00123
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001277115.2(DNAH11):c.6181-12T>C rs201203384 0.00122
NM_012144.4(DNAI1):c.81+61A>G rs192896482 0.00122
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_001206927.2(DNAH8):c.10637T>C (p.Phe3546Ser) rs142907521 0.00121
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His) rs199603472 0.00121
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys) rs183031009 0.00120
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_015512.5(DNAH1):c.4941G>A (p.Ala1647=) rs369578432 0.00120
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=) rs375687696 0.00118
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899 0.00118
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=) rs145381989 0.00118
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_015896.4(ZMYND10):c.510+8G>C rs201732355 0.00118
NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn) rs149660873 0.00118
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00117
NM_001369.3(DNAH5):c.7752+7C>G rs143848918 0.00116
NM_012472.6(DNAAF11):c.1226+6A>G rs377220897 0.00116
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe) rs138588942 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_018076.5(ODAD2):c.1228C>G (p.Gln410Glu) rs531033796 0.00115
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) rs200277460 0.00115
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=) rs149432727 0.00114
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_001206927.2(DNAH8):c.6528A>C (p.Leu2176=) rs45532134 0.00113
NM_001277115.2(DNAH11):c.7267-5C>G rs370674737 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00113
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys) rs141192321 0.00112
NM_025132.4(WDR19):c.3268A>C (p.Lys1090Gln) rs147302274 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp) rs147984546 0.00111
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=) rs185794149 0.00110
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738 0.00110
NM_018051.5(DYNC2I1):c.2351C>T (p.Ser784Leu) rs151184533 0.00110
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp) rs201929981 0.00109
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val) rs151156028 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg) rs72657366 0.00108
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_018076.5(ODAD2):c.2983G>A (p.Asp995Asn) rs149981194 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_145038.5(DRC1):c.2166+6C>T rs201547851 0.00108
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_001364171.2(ODAD1):c.360+18G>T rs60809253 0.00106
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_033124.5(CCDC65):c.549A>G (p.Ile183Met) rs140228766 0.00106
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=) rs150259992 0.00105
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977 0.00104
NM_015512.5(DNAH1):c.11003A>G (p.Asn3668Ser) rs199630660 0.00104
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_080860.4(RSPH1):c.683C>T (p.Pro228Leu) rs149604283 0.00104
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=) rs200445638 0.00103
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_015512.5(DNAH1):c.8630A>T (p.Asp2877Val) rs181910198 0.00103
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val) rs148698911 0.00101
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_015512.5(DNAH1):c.6258+17G>A rs199857102 0.00101
NM_015512.5(DNAH1):c.9440T>A (p.Ile3147Asn) rs61734629 0.00101
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys) rs61755909 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_015662.3(IFT172):c.2787+20C>T rs200344602 0.00100
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200 0.00099
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_015512.5(DNAH1):c.11572A>C (p.Lys3858Gln) rs186366418 0.00099
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00099
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser) rs199904529 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_015512.5(DNAH1):c.10616A>G (p.Lys3539Arg) rs115647631 0.00098
NM_018051.5(DYNC2I1):c.1048G>A (p.Glu350Lys) rs200061970 0.00098
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) rs150548113 0.00098
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) rs181413894 0.00096
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_001375405.1(CEP120):c.28A>G (p.Ile10Val) rs199793672 0.00096
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val) rs144557388 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_001481.3(GAS8):c.1221+4G>A rs201588451 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070 0.00093
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) rs146127619 0.00093
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro) rs141605537 0.00093
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_018076.5(ODAD2):c.1534-19C>G rs375614529 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=) rs190062687 0.00092
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys) rs182808328 0.00092
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp) rs200614172 0.00092
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_015512.5(DNAH1):c.1160C>A (p.Ala387Glu) rs200834858 0.00092
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) rs147470752 0.00092
NM_001256715.2(DNAAF3):c.284G>A (p.Ser95Asn) rs148116155 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001481.3(GAS8):c.1181T>A (p.Leu394Gln) rs142379631 0.00090
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu) rs1031852692 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243 0.00089
NM_001206927.2(DNAH8):c.12133T>A (p.Ser4045Thr) rs146262277 0.00089
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) rs201386161 0.00089
NM_001277115.2(DNAH11):c.7811+4A>T rs374167556 0.00089
NM_001369.3(DNAH5):c.6715C>T (p.Pro2239Ser) rs112360385 0.00089
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_001206927.2(DNAH8):c.11655A>C (p.Ala3885=) rs145561539 0.00088
NM_001277115.2(DNAH11):c.11203-4C>T rs200188856 0.00088
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys) rs199613080 0.00088
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020 0.00088
NM_015512.5(DNAH1):c.11481C>T (p.Asn3827=) rs144605025 0.00088
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln) rs140569195 0.00088
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala) rs80237479 0.00088
NM_033124.5(CCDC65):c.1016T>C (p.Ile339Thr) rs139325778 0.00088
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) rs145289281 0.00087
NM_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys) rs144505769 0.00087
NM_001364171.2(ODAD1):c.1866C>T (p.His622=) rs138562401 0.00087
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_001369.3(DNAH5):c.12349A>G (p.Ile4117Val) rs145501076 0.00086
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00086
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_015662.3(IFT172):c.2787+6G>A rs75805075 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_052844.4(DYNC2I2):c.569C>T (p.Thr190Met) rs142859913 0.00086
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala) rs200992452 0.00086
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) rs190259474 0.00085
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_015910.7(WDPCP):c.*327G>A rs565212301 0.00084
NM_016616.5(NME8):c.1317C>T (p.Thr439=) rs144273423 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_006642.5(SDCCAG8):c.-4G>A rs113193158 0.00083
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) rs140941344 0.00083
NM_015512.5(DNAH1):c.1093G>T (p.Ala365Ser) rs374001771 0.00083
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln) rs78631901 0.00083
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met) rs150655393 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_145038.5(DRC1):c.1093G>A (p.Glu365Lys) rs35094910 0.00082
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_001206927.2(DNAH8):c.3359T>C (p.Ile1120Thr) rs61757622 0.00081
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val) rs201700629 0.00081
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00081
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_024649.5(BBS1):c.724-16C>T rs141332689 0.00081
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) rs147454485 0.00080
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269 0.00080
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_080860.4(RSPH1):c.877+7T>A rs116369489 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg) rs143785315 0.00079
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=) rs200360777 0.00079
NM_001369.3(DNAH5):c.1090-14G>T rs150627172 0.00079
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_001256715.2(DNAAF3):c.1164-20G>A rs377667731 0.00078
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=) rs74722451 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798 0.00077
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873 0.00077
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=) rs190706759 0.00077
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001364171.2(ODAD1):c.1974C>T (p.Gly658=) rs150335194 0.00076
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=) rs141621142 0.00076
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys) rs115387935 0.00076
NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser) rs200839854 0.00076
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_018076.5(ODAD2):c.198A>C (p.Ser66=) rs143338979 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414 0.00075
NM_015512.5(DNAH1):c.4981-17G>A rs370018310 0.00075
NM_001377.3(DYNC2H1):c.5088G>A (p.Thr1696=) rs201302396 0.00074
NM_033028.5(BBS4):c.*691G>A rs192812230 0.00074
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_001034853.2(RPGR):c.2898G>A (p.Gly966=) rs1064797363 0.00073
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00073
NM_001277115.2(DNAH11):c.12473G>A (p.Arg4158Gln) rs182165265 0.00073
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=) rs200022799 0.00073
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=) rs557538074 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_001277115.2(DNAH11):c.12328C>A (p.Pro4110Thr) rs200821339 0.00072
NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile) rs144128773 0.00072
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674 0.00072
NM_015512.5(DNAH1):c.7123A>C (p.Lys2375Gln) rs149319231 0.00072
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00072
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_001206927.2(DNAH8):c.10794T>G (p.Leu3598=) rs116250863 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_014714.4(IFT140):c.2578-12C>G rs370111842 0.00071
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val) rs75829847 0.00071
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg) rs139773124 0.00071
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg) rs192327380 0.00070
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg) rs528501990 0.00070
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 0.00070
NM_024753.5(TTC21B):c.895-8C>T rs1354698515 0.00070
NM_031924.8(RSPH3):c.311C>G (p.Pro104Arg) rs147211320 0.00070
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met) rs202148932 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001277115.2(DNAH11):c.7266+5G>A rs149364992 0.00069
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=) rs200349268 0.00069
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414 0.00069
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser) rs145400360 0.00069
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser) rs150227461 0.00069
NM_001206927.2(DNAH8):c.8747+12G>A rs200650850 0.00068
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_012144.4(DNAI1):c.1177G>A (p.Val393Met) rs141089746 0.00068
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170 0.00068
NM_015512.5(DNAH1):c.12442-18G>A rs376695157 0.00068
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046 0.00068
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424 0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001034853.2(RPGR):c.2634G>A (p.Gly878=) rs371230592 0.00067
NM_001278293.3(ARL6):c.*470G>A rs184213166 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_018076.5(ODAD2):c.1386+14A>G rs113561552 0.00067
NM_021147.5(CCNO):c.107G>A (p.Arg36His) rs142265745 0.00067
NM_031885.5(BBS2):c.1659+18G>A rs371421381 0.00067
NM_033124.5(CCDC65):c.456G>A (p.Glu152=) rs145100370 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr) rs139745647 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001277115.2(DNAH11):c.2542G>A (p.Val848Met) rs80328282 0.00066
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=) rs114554656 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001481.3(GAS8):c.1210C>T (p.Arg404Cys) rs143772256 0.00066
NM_018051.5(DYNC2I1):c.1460+16A>T rs189495408 0.00066
NM_018076.5(ODAD2):c.1386+11T>C rs113221934 0.00066
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) rs2279122 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_001369.3(DNAH5):c.2578-10T>G rs756212532 0.00065
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_003114.5(SPAG1):c.2601A>G (p.Ser867=) rs138311726 0.00065
NM_015512.5(DNAH1):c.1087T>C (p.Phe363Leu) rs200013928 0.00065
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_001377.3(DYNC2H1):c.1135-11_1135-8del rs551487728 0.00064
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg) rs201252553 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_001206927.2(DNAH8):c.9673C>A (p.Gln3225Lys) rs138703233 0.00063
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile) rs138915052 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His) rs139537546 0.00063
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) rs76599296 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=) rs143312655 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_001375405.1(CEP120):c.2580+6T>G rs200418811 0.00062
NM_001377.3(DYNC2H1):c.11022+7T>A rs190701725 0.00062
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_015512.5(DNAH1):c.10002G>A (p.Thr3334=) rs373554527 0.00062
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164 0.00062
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_001174150.2(ARL13B):c.59+8G>A rs183229189 0.00061
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_015662.3(IFT172):c.786-12A>G rs373665754 0.00061
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00061
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp) rs771462228 0.00061
NM_012144.4(DNAI1):c.1570-7C>T rs200144108 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015512.5(DNAH1):c.7109A>C (p.Asp2370Ala) rs202011102 0.00060
NM_001206927.2(DNAH8):c.4800A>T (p.Arg1600Ser) rs141012833 0.00059
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_018076.5(ODAD2):c.583A>T (p.Ser195Cys) rs138425193 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00059
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001481.3(GAS8):c.841G>C (p.Asp281His) rs139167960 0.00058
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199 0.00058
NM_015512.5(DNAH1):c.5964G>A (p.Glu1988=) rs201198770 0.00058
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=) rs189617808 0.00058
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu) rs142342712 0.00058
NM_001277115.2(DNAH11):c.11691-10T>A rs191073674 0.00057
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_001369.3(DNAH5):c.12500-11G>A rs200056509 0.00057
NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr) rs143357437 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001481.3(GAS8):c.1011+7G>C rs377407115 0.00057
NM_015512.5(DNAH1):c.5518+9C>T rs373255914 0.00057
NM_019892.6(INPP5E):c.1803-20C>T rs190316580 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_021147.5(CCNO):c.264G>T (p.Gln88His) rs200127292 0.00057
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00057
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00057
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=) rs762437958 0.00056
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg) rs141491586 0.00056
NM_001206927.2(DNAH8):c.789G>A (p.Ala263=) rs61757620 0.00056
NM_001206927.2(DNAH8):c.9285T>C (p.Thr3095=) rs144188084 0.00056
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=) rs150429110 0.00056
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr) rs549457480 0.00056
NM_021147.5(CCNO):c.1002G>C (p.Met334Ile) rs149215991 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=) rs138764398 0.00056
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_014956.5(CEP164):c.2617-18G>A rs199987090 0.00055
NM_015512.5(DNAH1):c.11886G>A (p.Thr3962=) rs374930994 0.00055
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_001369.3(DNAH5):c.9898-18G>A rs181478641 0.00054
NM_001377.3(DYNC2H1):c.7320G>A (p.Thr2440=) rs183927107 0.00054
NM_015896.4(ZMYND10):c.564C>G (p.Leu188=) rs144295551 0.00054
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg) rs138438967 0.00054
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_001256715.2(DNAAF3):c.900C>T (p.Gly300=) rs369275731 0.00053
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001364171.2(ODAD1):c.361-10T>C rs141961809 0.00053
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val) rs146067670 0.00053
NM_015512.5(DNAH1):c.12481C>G (p.Gln4161Glu) rs200858839 0.00053
NM_015512.5(DNAH1):c.7923C>T (p.Phe2641=) rs372331607 0.00053
NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg) rs148764188 0.00053
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_145038.5(DRC1):c.1510-6C>A rs201815519 0.00053
NM_181426.2(CCDC39):c.162T>C (p.Ser54=) rs201308407 0.00053
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001277115.2(DNAH11):c.4434C>T (p.His1478=) rs139082783 0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_014956.5(CEP164):c.2844+8A>G rs142545580 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_015512.5(DNAH1):c.407-13C>A rs199779498 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_018051.5(DYNC2I1):c.2433+15A>G rs367950915 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
NM_001206927.2(DNAH8):c.3017A>G (p.Lys1006Arg) rs200071000 0.00051
NM_001277115.2(DNAH11):c.213G>T (p.Gly71=) rs542513475 0.00051
NM_001277115.2(DNAH11):c.5691C>T (p.Thr1897=) rs200388712 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_014714.4(IFT140):c.3141+14G>A rs372698828 0.00051
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=) rs138697817 0.00051
NM_015512.5(DNAH1):c.6610A>G (p.Met2204Val) rs199912441 0.00051
NM_018076.5(ODAD2):c.378T>C (p.Val126=) rs144145876 0.00051
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_024753.5(TTC21B):c.553-5A>C rs544620018 0.00051
NM_052844.4(DYNC2I2):c.19C>T (p.Pro7Ser) rs762357801 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474 0.00050
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr) rs560568324 0.00050
NM_001206927.2(DNAH8):c.7335T>C (p.Ala2445=) rs144391737 0.00050
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_001372.4(DNAH9):c.4745+11G>A rs188575211 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr) rs181919231 0.00050
NM_015910.7(WDPCP):c.-113C>A rs192963932 0.00050
NM_020347.4(LZTFL1):c.881+16C>T rs193075494 0.00050
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_001206927.2(DNAH8):c.8871T>A (p.Arg2957=) rs200109265 0.00049
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp) rs188615176 0.00049
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_006642.5(SDCCAG8):c.547-4T>G rs12080579 0.00049
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_015681.6(B9D1):c.567T>C (p.Asp189=) rs776039881 0.00049
NM_020347.4(LZTFL1):c.128+13G>A rs192123238 0.00049
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr) rs35496754 0.00049
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001206927.2(DNAH8):c.4303-15T>C rs201364154 0.00048
NM_001206927.2(DNAH8):c.8844T>C (p.Pro2948=) rs138178449 0.00048
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser) rs72657342 0.00048
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) rs374601841 0.00048
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_015512.5(DNAH1):c.1847A>C (p.Gln616Pro) rs200814267 0.00048
NM_015512.5(DNAH1):c.871+3G>A rs200262632 0.00048
NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr) rs199602894 0.00048
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_018076.5(ODAD2):c.2592A>G (p.Pro864=) rs145042199 0.00048
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_001174150.2(ARL13B):c.130+7T>C rs200527262 0.00047
NM_001174150.2(ARL13B):c.690-5G>A rs373173586 0.00047
NM_001277115.2(DNAH11):c.4576T>C (p.Leu1526=) rs199559539 0.00047
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu) rs372641908 0.00047
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs138076014 0.00047
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00047
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001206927.2(DNAH8):c.13992G>C (p.Leu4664=) rs371719991 0.00046
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) rs149489069 0.00046
NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=) rs376184114 0.00046
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=) rs78228821 0.00046
NM_014704.4(CEP104):c.843C>T (p.Ala281=) rs150027992 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala) rs142409945 0.00046
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_033124.5(CCDC65):c.609+12G>A rs201665288 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00045
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=) rs141486731 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_015512.5(DNAH1):c.11260-4C>A rs181779669 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00045
NM_198525.3(KIF7):c.1698C>T (p.Ala566=) rs147663017 0.00045
NM_198525.3(KIF7):c.375C>A (p.Ala125=) rs370413810 0.00045
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001277115.2(DNAH11):c.4185G>A (p.Arg1395=) rs113853066 0.00044
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00044
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe) rs201226440 0.00044
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp) rs200327783 0.00044
NM_145045.5(ODAD3):c.216T>A (p.Ala72=) rs372211022 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_001206927.2(DNAH8):c.8583+10G>T rs146573461 0.00043
NM_001256715.2(DNAAF3):c.-4G>A rs200851565 0.00043
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe) rs201793112 0.00043
NM_001364171.2(ODAD1):c.1502+8G>A rs370587770 0.00043
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343 0.00043
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=) rs190106816 0.00043
NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys) rs201162989 0.00043
NM_001377.3(DYNC2H1):c.7540+20A>G rs535988847 0.00043
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=) rs546670307 0.00043
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=) rs376496298 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_023036.6(DNAI2):c.1380G>T (p.Val460=) rs148947094 0.00043
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu) rs141039852 0.00043
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001206927.2(DNAH8):c.12951+15G>T rs367661246 0.00042
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584 0.00042
NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn) rs200485999 0.00042
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001377.3(DYNC2H1):c.6642T>C (p.His2214=) rs200306856 0.00042
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr) rs149271265 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_018076.5(ODAD2):c.960G>A (p.Gln320=) rs146568420 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001206927.2(DNAH8):c.13722C>G (p.Leu4574=) rs45600141 0.00041
NM_001206927.2(DNAH8):c.4503G>A (p.Leu1501=) rs61757624 0.00041
NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser) rs200762072 0.00041
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) rs199897162 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.2617-13A>G rs372968944 0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_176824.3(BBS7):c.1890+9_1890+10del rs772355304 0.00041
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_001206927.2(DNAH8):c.5958+9T>C rs138219280 0.00040
NM_001206927.2(DNAH8):c.6612C>T (p.Ser2204=) rs145106656 0.00040
NM_001369.3(DNAH5):c.8224+18G>A rs183622722 0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099 0.00040
NM_015910.7(WDPCP):c.826-8C>A rs201860952 0.00040
NM_018139.3(DNAAF2):c.1785G>A (p.Val595=) rs141689467 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_001034853.2(RPGR):c.1414+5C>T rs367627674 0.00039
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_001206927.2(DNAH8):c.8238G>C (p.Val2746=) rs147418086 0.00039
NM_001277115.2(DNAH11):c.1973+8G>C rs374509704 0.00039
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201 0.00039
NM_001369.3(DNAH5):c.13125+10T>A rs2277047 0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile) rs181884470 0.00039
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_001377.3(DYNC2H1):c.9007A>G (p.Ile3003Val) rs367832579 0.00039
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_014704.4(CEP104):c.1653T>C (p.Phe551=) rs141730324 0.00039
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_015102.5(NPHP4):c.117C>T (p.Asp39=) rs368118106 0.00039
NM_015512.5(DNAH1):c.3226+15C>T rs189705509 0.00039
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) rs150579201 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_025132.4(WDR19):c.98+14G>T rs77963159 0.00039
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg) rs200619983 0.00038
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val) rs189000268 0.00038
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00038
NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala) rs148936584 0.00038
NM_145038.5(DRC1):c.402C>T (p.Phe134=) rs200560247 0.00038
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_198525.3(KIF7):c.2586C>T (p.Arg862=) rs141097070 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_001369.3(DNAH5):c.2067T>C (p.His689=) rs140630779 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001369.3(DNAH5):c.3843T>C (p.Tyr1281=) rs146492613 0.00037
NM_001369.3(DNAH5):c.5528A>C (p.Glu1843Ala) rs147599966 0.00037
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_015512.5(DNAH1):c.3480+16C>T rs566501109 0.00037
NM_015512.5(DNAH1):c.5100C>G (p.Leu1700=) rs368364427 0.00037
NM_019892.6(INPP5E):c.1464C>T (p.Val488=) rs140255426 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=) rs769179127 0.00036
NM_001206927.2(DNAH8):c.3740C>T (p.Pro1247Leu) rs564472219 0.00036
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) rs201618995 0.00036
NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val) rs369862935 0.00036
NM_001369.3(DNAH5):c.8804T>C (p.Met2935Thr) rs750633804 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) rs375796182 0.00036
NM_015512.5(DNAH1):c.10952G>A (p.Arg3651His) rs201278364 0.00036
NM_015512.5(DNAH1):c.11260-14G>A rs761117917 0.00036
NM_015512.5(DNAH1):c.2482G>A (p.Val828Met) rs141416042 0.00036
NM_015512.5(DNAH1):c.6558T>G (p.Ala2186=) rs113617561 0.00036
NM_015512.5(DNAH1):c.9021G>T (p.Val3007=) rs201550077 0.00036
NM_017950.4(CCDC40):c.*633C>G rs117359231 0.00036
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=) rs371383125 0.00036
NM_018076.5(ODAD2):c.1277G>A (p.Ser426Asn) rs143513621 0.00036
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_019892.6(INPP5E):c.1666-19C>T rs374671289 0.00036
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580 0.00036
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) rs373515859 0.00036
NM_198428.3(BBS9):c.887-7C>T rs376333670 0.00036
NM_198525.3(KIF7):c.465C>T (p.Asp155=) rs765350587 0.00036
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_001277115.2(DNAH11):c.4868T>C (p.Ile1623Thr) rs113948334 0.00035
NM_001277115.2(DNAH11):c.6274-5T>C rs74365849 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001375405.1(CEP120):c.1074G>A (p.Glu358=) rs199843371 0.00035
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_012472.6(DNAAF11):c.836+18A>G rs201428444 0.00035
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=) rs139675128 0.00035
NM_017802.4(DNAAF5):c.1325C>T (p.Ser442Leu) rs146938307 0.00035
NM_080860.4(RSPH1):c.315C>T (p.Tyr105=) rs144037391 0.00035
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875 0.00035
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001206927.2(DNAH8):c.10287A>G (p.Pro3429=) rs369728224 0.00034
NM_001206927.2(DNAH8):c.12583C>T (p.Leu4195=) rs200315521 0.00034
NM_001277115.2(DNAH11):c.12195+11G>A rs369874287 0.00034
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=) rs368294823 0.00034
NM_001277115.2(DNAH11):c.7441-10C>G rs368901468 0.00034
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744 0.00034
NM_001377.3(DYNC2H1):c.10883C>T (p.Thr3628Ile) rs1057524234 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535 0.00034
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_003114.5(SPAG1):c.301-8A>G rs371427575 0.00034
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=) rs200183657 0.00034
NM_015512.5(DNAH1):c.5406T>C (p.Ser1802=) rs200456498 0.00034
NM_016616.5(NME8):c.84C>T (p.Gly28=) rs376117068 0.00034
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_018076.5(ODAD2):c.1986+16C>T rs367991055 0.00034
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_031885.5(BBS2):c.1797+12C>T rs370960689 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
NM_181426.2(CCDC39):c.267T>C (p.Ile89=) rs61733581 0.00034
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103 0.00034
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=) rs142488318 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_001206927.2(DNAH8):c.4512C>T (p.Thr1504=) rs200564814 0.00033
NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=) rs377325487 0.00033
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser) rs567825969 0.00033
NM_001329943.3(KIAA0586):c.2554-9C>T rs202018500 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015512.5(DNAH1):c.2543G>A (p.Arg848His) rs376029297 0.00033
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203 0.00032
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001134831.2(AHI1):c.2373+18A>G rs371919793 0.00032
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_001206927.2(DNAH8):c.13300C>T (p.Arg4434Trp) rs189023122 0.00032
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val) rs201257328 0.00032
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00032
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_001375405.1(CEP120):c.1574T>C (p.Phe525Ser) rs567550166 0.00032
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=) rs371844948 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) rs149894438 0.00032
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_015512.5(DNAH1):c.1722C>T (p.Arg574=) rs149480284 0.00032
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_017802.4(DNAAF5):c.231G>A (p.Leu77=) rs781235373 0.00032
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_145045.5(ODAD3):c.366+9C>T rs370978492 0.00032
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=) rs377300877 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu) rs147574550 0.00031
NM_001277115.2(DNAH11):c.10692-7C>T rs368833367 0.00031
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=) rs149926178 0.00031
NM_001277115.2(DNAH11):c.4791T>C (p.Tyr1597=) rs748873603 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001277115.2(DNAH11):c.8510+15C>G rs370252599 0.00031
NM_001329943.3(KIAA0586):c.3304+12A>G rs370645135 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) rs138968139 0.00031
NM_001377.3(DYNC2H1):c.7576A>G (p.Ile2526Val) rs187196207 0.00031
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316 0.00031
NM_001384732.1(CPLANE1):c.3150-12A>G rs755478099 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_015102.5(NPHP4):c.2305-20C>T rs373131898 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015512.5(DNAH1):c.12315A>G (p.Gln4105=) rs201156071 0.00031
NM_015512.5(DNAH1):c.888G>C (p.Gln296His) rs200450328 0.00031
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203 0.00031
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00031
NM_017802.4(DNAAF5):c.933C>T (p.Asp311=) rs139879811 0.00031
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_018139.3(DNAAF2):c.1329C>T (p.His443=) rs190354993 0.00031
NM_019892.6(INPP5E):c.217C>T (p.Arg73Trp) rs779841260 0.00031
NM_019892.6(INPP5E):c.430C>G (p.Arg144Gly) rs1479443394 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_025132.4(WDR19):c.3358+16G>A rs375715247 0.00031
NM_031885.5(BBS2):c.1238G>A (p.Arg413Gln) rs141683908 0.00031
NM_145038.5(DRC1):c.2076C>T (p.Thr692=) rs141191674 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala) rs141147863 0.00030
NM_001256715.2(DNAAF3):c.1239-15G>A rs199947168 0.00030
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_001369.3(DNAH5):c.507G>A (p.Ser169=) rs146663590 0.00030
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378615.1(CC2D2A):c.4315-13T>C rs377685137 0.00030
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015512.5(DNAH1):c.5396A>G (p.Lys1799Arg) rs200793269 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_198428.3(BBS9):c.*444G>A rs75625812 0.00030
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_001206927.2(DNAH8):c.14019C>G (p.Pro4673=) rs142478578 0.00029
NM_001206927.2(DNAH8):c.9375G>A (p.Glu3125=) rs142453787 0.00029
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His) rs192989152 0.00029
NM_001277115.2(DNAH11):c.8745C>A (p.Ala2915=) rs532384466 0.00029
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) rs139175231 0.00029
NM_001364171.2(ODAD1):c.576C>T (p.Asn192=) rs549795539 0.00029
NM_001364171.2(ODAD1):c.705C>T (p.Arg235=) rs368483838 0.00029
NM_001369.3(DNAH5):c.4054-20T>C rs371107640 0.00029
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00029
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771 0.00029
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=) rs183325464 0.00029
NM_001378454.1(ALMS1):c.9781+19del rs751238172 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_003114.5(SPAG1):c.957T>A (p.Val319=) rs146528350 0.00029
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 0.00029
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_012144.4(DNAI1):c.276G>A (p.Lys92=) rs140983343 0.00029
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=) rs149964584 0.00029
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=) rs138048667 0.00029
NM_015512.5(DNAH1):c.4266+19G>A rs547078712 0.00029
NM_015512.5(DNAH1):c.5850G>A (p.Pro1950=) rs374690567 0.00029
NM_015512.5(DNAH1):c.8150+15C>T rs370852061 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_023036.6(DNAI2):c.1516C>A (p.Arg506=) rs141581673 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr) rs140824612 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_198525.3(KIF7):c.3828C>T (p.Thr1276=) rs149585159 0.00029
NM_198525.3(KIF7):c.3906G>A (p.Leu1302=) rs142246932 0.00029
NM_001134831.2(AHI1):c.729C>T (p.Val243=) rs370392354 0.00028
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys) rs190854744 0.00028
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_001206927.2(DNAH8):c.1352T>C (p.Val451Ala) rs200355421 0.00028
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=) rs199706799 0.00028
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=) rs200978576 0.00028
NM_001375405.1(CEP120):c.27C>T (p.Leu9=) rs111851376 0.00028
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly) rs140029326 0.00028
NM_015512.5(DNAH1):c.9172-16G>A rs201089899 0.00028
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_018051.5(DYNC2I1):c.324T>C (p.His108=) rs191864940 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950 0.00028
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_024809.5(TCTN2):c.612C>T (p.Thr204=) rs761526808 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803 0.00028
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_001082538.3(TCTN1):c.1635+11C>T rs369922174 0.00027
NM_001277115.2(DNAH11):c.195C>T (p.Arg65=) rs369285943 0.00027
NM_001277115.2(DNAH11):c.4059G>C (p.Val1353=) rs372066048 0.00027
NM_001277115.2(DNAH11):c.6264C>T (p.Pro2088=) rs187936691 0.00027
NM_001329943.3(KIAA0586):c.1254-13T>C rs368443727 0.00027
NM_001369.3(DNAH5):c.8247C>T (p.Tyr2749=) rs367946282 0.00027
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=) rs747033366 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_014704.4(CEP104):c.2766C>T (p.Tyr922=) rs750794560 0.00027
NM_014956.5(CEP164):c.4131G>A (p.Pro1377=) rs141080271 0.00027
NM_015512.5(DNAH1):c.10173G>A (p.Glu3391=) rs202178561 0.00027
NM_017777.4(MKS1):c.80+14C>T rs761061379 0.00027
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_030578.4(B9D2):c.336G>A (p.Thr112=) rs139072904 0.00027
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_080860.4(RSPH1):c.98G>A (p.Arg33His) rs145742147 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_178452.6(DNAAF1):c.863+17C>G rs200161964 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001134831.2(AHI1):c.199A>G (p.Ile67Val) rs369012543 0.00026
NM_001190787.3(MCIDAS):c.210G>A (p.Ala70=) rs775778104 0.00026
NM_001190787.3(MCIDAS):c.606+20G>A rs777964921 0.00026
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001206927.2(DNAH8):c.13599G>A (p.Ser4533=) rs150470972 0.00026
NM_001206927.2(DNAH8):c.1962+15C>A rs192638290 0.00026
NM_001206927.2(DNAH8):c.4467-6T>G rs373703082 0.00026
NM_001206927.2(DNAH8):c.737C>T (p.Ala246Val) rs146560083 0.00026
NM_001206927.2(DNAH8):c.9064-20C>T rs111463472 0.00026
NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys) rs77008420 0.00026
NM_001277115.2(DNAH11):c.9465T>A (p.Ala3155=) rs370662544 0.00026
NM_001277115.2(DNAH11):c.9942G>A (p.Glu3314=) rs370271115 0.00026
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg) rs36088710 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001377.3(DYNC2H1):c.12609A>G (p.Ser4203=) rs377621045 0.00026
NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=) rs372246714 0.00026
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560 0.00026
NM_001378615.1(CC2D2A):c.3976-18C>G rs375782772 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001382391.1(CSPP1):c.1094-11C>T rs753835152 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_014956.5(CEP164):c.553-11C>T rs200692234 0.00026
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.258T>C (p.Thr86=) rs369061009 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00026
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_031924.8(RSPH3):c.157A>G (p.Arg53Gly) rs200757145 0.00026
NM_033124.5(CCDC65):c.1179+10G>A rs201731115 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_198525.3(KIF7):c.3318+16A>G rs372323903 0.00026
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_001375405.1(CEP120):c.2187G>A (p.Val729=) rs192078531 0.00025
NM_001377.3(DYNC2H1):c.1184C>T (p.Ala395Val) rs200822573 0.00025
NM_001382391.1(CSPP1):c.1497-13T>C rs193022291 0.00025
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464 0.00025
NM_014956.5(CEP164):c.3610-4A>G rs111915712 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.3711+13A>T rs371208266 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_015681.6(B9D1):c.360C>T (p.Pro120=) rs139682891 0.00025
NM_017802.4(DNAAF5):c.1471-12G>A rs370817681 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) rs148866170 0.00025
NM_031924.8(RSPH3):c.347-16A>G rs371616291 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly) rs145909750 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658 0.00024
NM_001082538.3(TCTN1):c.713-9G>T rs201293727 0.00024
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001199397.3(NEK1):c.2139+13A>G rs369548359 0.00024
NM_001199397.3(NEK1):c.3771T>C (p.Asn1257=) rs781165423 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001364171.2(ODAD1):c.1641G>A (p.Ala547=) rs374160332 0.00024
NM_001364171.2(ODAD1):c.414G>A (p.Pro138=) rs372358888 0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_001369.3(DNAH5):c.12279+20T>G rs201220143 0.00024
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484 0.00024
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) rs199962946 0.00024
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu) rs556774863 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) rs143717300 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_014956.5(CEP164):c.1152+16C>T rs375703035 0.00024
NM_015512.5(DNAH1):c.12252G>A (p.Lys4084=) rs371353386 0.00024
NM_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_016616.5(NME8):c.1139+14T>A rs367945544 0.00024
NM_017777.4(MKS1):c.249G>A (p.Lys83=) rs62636631 0.00024
NM_017802.4(DNAAF5):c.27C>T (p.Ala9=) rs557885420 0.00024
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_018139.3(DNAAF2):c.972C>T (p.Tyr324=) rs370818914 0.00024
NM_024753.5(TTC21B):c.429+6T>C rs377395392 0.00024
NM_024809.5(TCTN2):c.1770-20A>G rs538008079 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_052844.4(DYNC2I2):c.814-16C>T rs370599383 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_145038.5(DRC1):c.990C>T (p.Ser330=) rs149344139 0.00024
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 0.00024
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=) rs377488330 0.00023
NM_001134831.2(AHI1):c.3165+20C>T rs376479301 0.00023
NM_001206927.2(DNAH8):c.14075C>T (p.Pro4692Leu) rs147878071 0.00023
NM_001206927.2(DNAH8):c.3048C>T (p.His1016=) rs373742505 0.00023
NM_001206927.2(DNAH8):c.5466+17T>C rs201352103 0.00023
NM_001256715.2(DNAAF3):c.747T>C (p.His249=) rs368667794 0.00023
NM_001277115.2(DNAH11):c.11107G>C (p.Glu3703Gln) rs762297426 0.00023
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser) rs200166341 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile) rs374350787 0.00023
NM_001277115.2(DNAH11):c.7365C>T (p.Asp2455=) rs183855253 0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001375405.1(CEP120):c.2104-12dup rs759878384 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001382391.1(CSPP1):c.2539-5T>C rs555281942 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00023
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_015512.5(DNAH1):c.12524G>A (p.Arg4175His) rs375846884 0.00023
NM_015512.5(DNAH1):c.5679C>T (p.Tyr1893=) rs188155252 0.00023
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_018076.5(ODAD2):c.1869G>A (p.Thr623=) rs189617150 0.00023
NM_018076.5(ODAD2):c.682+18G>C rs188215744 0.00023
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_153717.3(EVC):c.174+16A>G rs1049950431 0.00023
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=) rs139566676 0.00023
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=) rs139726443 0.00022
NM_001134831.2(AHI1):c.1893G>A (p.Arg631=) rs376848097 0.00022
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=) rs751433727 0.00022
NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val) rs139533720 0.00022
NM_001256715.2(DNAAF3):c.1049-1G>A rs199590885 0.00022
NM_001277115.2(DNAH11):c.1824A>G (p.Gln608=) rs188265394 0.00022
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser) rs369770445 0.00022
NM_001277115.2(DNAH11):c.7449C>T (p.Leu2483=) rs139339343 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00022
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys) rs771264933 0.00022
NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs) rs767882166 0.00022
NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=) rs376644970 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609 0.00022
NM_014704.4(CEP104):c.1851C>T (p.Ala617=) rs150585805 0.00022
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=) rs144700973 0.00022
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_015631.6(TCTN3):c.1096-14C>A rs41291568 0.00022
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_015896.4(ZMYND10):c.88G>A (p.Glu30Lys) rs587731307 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579 0.00022
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544 0.00022
NM_080860.4(RSPH1):c.732A>G (p.Ala244=) rs141241740 0.00022
NM_145038.5(DRC1):c.2139G>A (p.Ala713=) rs139421793 0.00022
NM_145045.5(ODAD3):c.367-18G>A rs377309888 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_198428.3(BBS9):c.113-13A>T rs766360617 0.00022
NM_198525.3(KIF7):c.96C>T (p.His32=) rs368482949 0.00022
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=) rs188903141 0.00021
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001034853.2(RPGR):c.1507-18A>G rs113851995 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=) rs756870581 0.00021
NM_001206927.2(DNAH8):c.12008-8T>C rs772870720 0.00021
NM_001206927.2(DNAH8):c.1548A>G (p.Ala516=) rs146078369 0.00021
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His) rs142863013 0.00021
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703 0.00021
NM_001277115.2(DNAH11):c.2349T>A (p.Pro783=) rs370930478 0.00021
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His) rs369849556 0.00021
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=) rs201231307 0.00021
NM_001277115.2(DNAH11):c.4254+13G>A rs371484690 0.00021
NM_001277115.2(DNAH11):c.9925-7T>C rs146815254 0.00021
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684 0.00021
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) rs555609562 0.00021
NM_001369.3(DNAH5):c.1536+9C>T rs766017243 0.00021
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) rs749162833 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_001369.3(DNAH5):c.7753-7A>G rs374025017 0.00021
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00021
NM_001375405.1(CEP120):c.2013+14T>C rs546872053 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) rs201305322 0.00021
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=) rs369314182 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp) rs377188181 0.00021
NM_001384732.1(CPLANE1):c.5820+8A>G rs181096718 0.00021
NM_001481.3(GAS8):c.756+19G>T rs762219653 0.00021
NM_003114.5(SPAG1):c.1128C>T (p.Ala376=) rs757793042 0.00021
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015512.5(DNAH1):c.7770C>T (p.Ser2590=) rs369479974 0.00021
NM_015650.4(TRAF3IP1):c.1282+8A>T rs201037417 0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015681.6(B9D1):c.369C>A (p.Val123=) rs138240520 0.00021
NM_015910.7(WDPCP):c.75+13C>T rs182759221 0.00021
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=) rs149101412 0.00021
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=) rs150634667 0.00021
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.442-18T>A rs532622908 0.00021
NM_025132.4(WDR19):c.2422-15G>A rs564271912 0.00021
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=) rs370118109 0.00021
NM_181426.2(CCDC39):c.1035-5T>C rs200089274 0.00021
NM_198428.3(BBS9):c.328+18C>T rs201767914 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324 0.00020
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=) rs561410801 0.00020
NM_001206927.2(DNAH8):c.10525-13T>G rs375416264 0.00020
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_001277115.2(DNAH11):c.1866A>C (p.Val622=) rs750617653 0.00020
NM_001277115.2(DNAH11):c.5621+19C>T rs368278835 0.00020
NM_001377.3(DYNC2H1):c.838G>T (p.Val280Leu) rs758857025 0.00020
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=) rs375421077 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr) rs140512094 0.00020
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_015662.3(IFT172):c.792G>A (p.Arg264=) rs138730915 0.00020
NM_016616.5(NME8):c.454C>T (p.Gln152Ter) rs199901385 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_018051.5(DYNC2I1):c.2151G>A (p.Ala717=) rs375125159 0.00020
NM_023036.6(DNAI2):c.989C>T (p.Pro330Leu) rs778774910 0.00020
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_024809.5(TCTN2):c.190+17T>C rs369406967 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_080860.4(RSPH1):c.574-18T>C rs200788622 0.00020
NM_152732.5(RSPH9):c.421G>A (p.Val141Met) rs2295947 0.00020
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) rs374289303 0.00020
NM_198525.3(KIF7):c.3621G>A (p.Leu1207=) rs138986036 0.00020
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001206927.2(DNAH8):c.5169A>G (p.Val1723=) rs149635351 0.00019
NM_001277115.2(DNAH11):c.10245G>A (p.Ala3415=) rs199799310 0.00019
NM_001277115.2(DNAH11):c.982+8T>A rs72655978 0.00019
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=) rs201050208 0.00019
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) rs760162925 0.00019
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) rs767722181 0.00019
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001369.3(DNAH5):c.12375G>A (p.Ala4125=) rs140284455 0.00019
NM_001369.3(DNAH5):c.5991C>T (p.Leu1997=) rs376001456 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.7476G>T (p.Ala2492=) rs778257130 0.00019
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_001375405.1(CEP120):c.340T>C (p.Leu114=) rs199922403 0.00019
NM_001377.3(DYNC2H1):c.12042T>C (p.Val4014=) rs199929555 0.00019
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137 0.00019
NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile) rs370906388 0.00019
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097 0.00019
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=) rs188172095 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=) rs376244626 0.00019
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001378615.1(CC2D2A):c.3280C>G (p.Leu1094Val) rs200518703 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.178+18G>A rs748179205 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_014956.5(CEP164):c.3042A>G (p.Gln1014=) rs149350006 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015512.5(DNAH1):c.10353C>A (p.Ile3451=) rs560473874 0.00019
NM_015512.5(DNAH1):c.10803C>T (p.Phe3601=) rs373290672 0.00019
NM_015512.5(DNAH1):c.12246G>A (p.Ser4082=) rs199592033 0.00019
NM_015512.5(DNAH1):c.2912G>A (p.Arg971His) rs190420231 0.00019
NM_015512.5(DNAH1):c.6474G>A (p.Ala2158=) rs371470583 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_016616.5(NME8):c.226C>A (p.Gln76Lys) rs142570057 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017802.4(DNAAF5):c.1783+7C>T rs748320384 0.00019
NM_017802.4(DNAAF5):c.2200G>A (p.Gly734Ser) rs191515363 0.00019
NM_018076.5(ODAD2):c.937-7A>G rs370699691 0.00019
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=) rs567371975 0.00019
NM_019892.6(INPP5E):c.812+16C>T rs756756387 0.00019
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=) rs146478497 0.00019
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00019
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_031924.8(RSPH3):c.-201G>C rs138878442 0.00019
NM_031924.8(RSPH3):c.762C>T (p.Ala254=) rs144434227 0.00019
NM_031924.8(RSPH3):c.946+8A>G rs375546866 0.00019
NM_080860.4(RSPH1):c.94G>A (p.Gly32Arg) rs543602231 0.00019
NM_145045.5(ODAD3):c.1329G>A (p.Arg443=) rs758094826 0.00019
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00019
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_198525.3(KIF7):c.3327G>A (p.Thr1109=) rs575365743 0.00019
NM_001199397.3(NEK1):c.1750-5T>C rs199522035 0.00018
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=) rs756830252 0.00018
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=) rs201592689 0.00018
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met) rs72657369 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met) rs147583407 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_001377.3(DYNC2H1):c.2947-7C>T rs535824548 0.00018
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) rs373903792 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=) rs370146822 0.00018
NM_003114.5(SPAG1):c.1923C>T (p.Asp641=) rs143972848 0.00018
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00018
NM_012472.6(DNAAF11):c.1141-18G>A rs191376365 0.00018
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_014956.5(CEP164):c.315T>C (p.Thr105=) rs147988387 0.00018
NM_014956.5(CEP164):c.687+15C>T rs200387177 0.00018
NM_015512.5(DNAH1):c.2889C>T (p.Phe963=) rs761342029 0.00018
NM_015512.5(DNAH1):c.8518C>T (p.Leu2840=) rs201329380 0.00018
NM_015512.5(DNAH1):c.918C>T (p.Gly306=) rs369216877 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp) rs143045012 0.00018
NM_018076.5(ODAD2):c.2572G>A (p.Ala858Thr) rs200363248 0.00018
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=) rs142103808 0.00017
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala) rs779509262 0.00017
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_001206927.2(DNAH8):c.12933T>C (p.Asp4311=) rs143973202 0.00017
NM_001277115.2(DNAH11):c.13162+12C>T rs191638909 0.00017
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_001377.3(DYNC2H1):c.11649+13A>G rs375086817 0.00017
NM_001377.3(DYNC2H1):c.12039+19C>T rs778374973 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_001377.3(DYNC2H1):c.6726G>T (p.Val2242=) rs200600809 0.00017
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699 0.00017
NM_001377.3(DYNC2H1):c.7893C>T (p.His2631=) rs373294424 0.00017
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr) rs148238282 0.00017
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) rs141157671 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00017
NM_014956.5(CEP164):c.1245T>C (p.Phe415=) rs555876739 0.00017
NM_014956.5(CEP164):c.2311A>G (p.Ser771Gly) rs143601082 0.00017
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015272.5(RPGRIP1L):c.3221-19C>T rs372929131 0.00017
NM_015512.5(DNAH1):c.12018A>G (p.Gln4006=) rs202165132 0.00017
NM_015512.5(DNAH1):c.269C>T (p.Pro90Leu) rs202174386 0.00017
NM_015512.5(DNAH1):c.8340C>T (p.Tyr2780=) rs566804596 0.00017
NM_015631.6(TCTN3):c.537T>C (p.Asn179=) rs141346992 0.00017
NM_019892.6(INPP5E):c.1549+18C>T rs372446887 0.00017
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159 0.00017
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=) rs748264709 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_052844.4(DYNC2I2):c.187-10C>T rs548224589 0.00017
NM_080860.4(RSPH1):c.502-18G>A rs371221411 0.00017
NM_080860.4(RSPH1):c.684G>A (p.Pro228=) rs138330014 0.00017
NM_145038.5(DRC1):c.2166+9C>T rs373951532 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_152732.5(RSPH9):c.819C>T (p.Pro273=) rs79412180 0.00017
NM_181426.2(CCDC39):c.2266-5T>C rs200409307 0.00017
NM_181426.2(CCDC39):c.547T>C (p.Leu183=) rs375301243 0.00017
NM_198525.3(KIF7):c.402C>T (p.Asn134=) rs569704065 0.00017
NM_001034853.2(RPGR):c.2517A>G (p.Glu839=) rs755138994 0.00016
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 0.00016
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=) rs200935044 0.00016
NM_001134831.2(AHI1):c.2706T>C (p.Val902=) rs576859418 0.00016
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=) rs548233683 0.00016
NM_001199397.3(NEK1):c.1141-19del rs773179397 0.00016
NM_001199397.3(NEK1):c.1192-17A>C rs112361330 0.00016
NM_001277115.2(DNAH11):c.1003G>A (p.Val335Met) rs562105878 0.00016
NM_001277115.2(DNAH11):c.12712C>A (p.Leu4238Ile) rs761368563 0.00016
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His) rs138945257 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.4370C>T (p.Thr1457Ile) rs200220615 0.00016
NM_001277115.2(DNAH11):c.5397C>A (p.Ile1799=) rs368444771 0.00016
NM_001277115.2(DNAH11):c.9576T>G (p.Ala3192=) rs766295022 0.00016
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) rs370408761 0.00016
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844 0.00016
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) rs780038095 0.00016
NM_001364171.2(ODAD1):c.315G>A (p.Ala105=) rs369079468 0.00016
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.11215T>C (p.Leu3739=) rs768012285 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe) rs541038013 0.00016
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_001377.3(DYNC2H1):c.7222G>A (p.Ala2408Thr) rs201875907 0.00016
NM_001377.3(DYNC2H1):c.9568-13C>G rs189730787 0.00016
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_006642.5(SDCCAG8):c.1474-20T>C rs185598556 0.00016
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3718G>A (p.Val1240Met) rs114611454 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_014956.5(CEP164):c.4144C>T (p.Leu1382=) rs142927104 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.3817-20C>T rs573999865 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=) rs373750629 0.00016
NM_015512.5(DNAH1):c.10053-7C>T rs142135103 0.00016
NM_015512.5(DNAH1):c.1263G>T (p.Thr421=) rs111568726 0.00016
NM_015512.5(DNAH1):c.1955+9C>T rs371473789 0.00016
NM_015512.5(DNAH1):c.7377+12G>A rs776658082 0.00016
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=) rs143142494 0.00016
NM_015662.3(IFT172):c.98T>C (p.Val33Ala) rs200884031 0.00016
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583 0.00016
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=) rs758280553 0.00016
NM_017950.4(CCDC40):c.1807-10T>G rs369273325 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.2601G>A (p.Glu867=) rs200841842 0.00016
NM_018051.5(DYNC2I1):c.2670A>G (p.Arg890=) rs373640802 0.00016
NM_018076.5(ODAD2):c.3021+18T>C rs374256784 0.00016
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448 0.00016
NM_018139.3(DNAAF2):c.417C>T (p.Tyr139=) rs776421647 0.00016
NM_020800.3(IFT80):c.2049C>T (p.Gly683=) rs367915575 0.00016
NM_020800.3(IFT80):c.640-8T>A rs770339585 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00016
NM_031427.4(DNAL1):c.492A>G (p.Glu164=) rs150636700 0.00016
NM_033028.5(BBS4):c.1136C>T (p.Ala379Val) rs147269475 0.00016
NM_080860.4(RSPH1):c.714T>C (p.Ala238=) rs141840867 0.00016
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_145038.5(DRC1):c.1926G>A (p.Ser642=) rs144870659 0.00016
NM_145038.5(DRC1):c.1974C>G (p.Asp658Glu) rs140913454 0.00016
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_178452.6(DNAAF1):c.1528+11C>T rs375586650 0.00016
NM_198525.3(KIF7):c.3112-19C>T rs372151159 0.00016
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001206927.2(DNAH8):c.10308+17A>G rs373062765 0.00015
NM_001256715.2(DNAAF3):c.291C>G (p.Ala97=) rs569627336 0.00015
NM_001277115.2(DNAH11):c.10128C>A (p.Ile3376=) rs368988134 0.00015
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys) rs201494403 0.00015
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) rs747245461 0.00015
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=) rs192739957 0.00015
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg) rs367816483 0.00015
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) rs569428035 0.00015
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser) rs147567352 0.00015
NM_001375405.1(CEP120):c.402C>T (p.Thr134=) rs143893793 0.00015
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882 0.00015
NM_001378615.1(CC2D2A):c.123+19C>T rs142821756 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.718-10C>T rs182383712 0.00015
NM_003114.5(SPAG1):c.1119C>T (p.Ala373=) rs1368158185 0.00015
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_014704.4(CEP104):c.1953C>T (p.Asp651=) rs187512647 0.00015
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_016616.5(NME8):c.264T>C (p.Phe88=) rs547826686 0.00015
NM_017802.4(DNAAF5):c.282G>A (p.Ala94=) rs887811765 0.00015
NM_018051.5(DYNC2I1):c.1922-19A>G rs374835240 0.00015
NM_019892.6(INPP5E):c.323G>A (p.Gly108Glu) rs562484803 0.00015
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_025114.4(CEP290):c.6522+15T>C rs1050903820 0.00015
NM_052844.4(DYNC2I2):c.1605G>A (p.Ala535=) rs772894632 0.00015
NM_080860.4(RSPH1):c.774C>T (p.Phe258=) rs144996547 0.00015
NM_080860.4(RSPH1):c.93C>T (p.His31=) rs370387704 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_152732.5(RSPH9):c.327C>T (p.Tyr109=) rs140285713 0.00015
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_178452.6(DNAAF1):c.2065+9G>A rs200690810 0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=) rs200067409 0.00014
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln) rs770605375 0.00014
NM_001134831.2(AHI1):c.2374-8C>T rs553894171 0.00014
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001199397.3(NEK1):c.162A>G (p.Val54=) rs369056831 0.00014
NM_001199397.3(NEK1):c.2205+15C>T rs377301531 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001206927.2(DNAH8):c.11490G>A (p.Glu3830=) rs375619692 0.00014
NM_001206927.2(DNAH8):c.11913A>G (p.Glu3971=) rs149690655 0.00014
NM_001206927.2(DNAH8):c.12951+7G>A rs565030663 0.00014
NM_001206927.2(DNAH8):c.9087G>A (p.Ser3029=) rs201691475 0.00014
NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=) rs530406993 0.00014
NM_001277115.2(DNAH11):c.3425+5C>G rs776140118 0.00014
NM_001277115.2(DNAH11):c.5625T>C (p.Cys1875=) rs368967707 0.00014
NM_001329943.3(KIAA0586):c.3528-12T>G rs553895000 0.00014
NM_001329943.3(KIAA0586):c.4495+3790C>T rs757410007 0.00014
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) rs371663826 0.00014
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=) rs144879072 0.00014
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys) rs145962029 0.00014
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.4797-7A>G rs374917069 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
NM_001369.3(DNAH5):c.8871G>T (p.Val2957=) rs374113855 0.00014
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) rs146215039 0.00014
NM_001377.3(DYNC2H1):c.11176A>G (p.Ile3726Val) rs370622418 0.00014
NM_001377.3(DYNC2H1):c.4548G>A (p.Lys1516=) rs752835156 0.00014
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=) rs368572539 0.00014
NM_001378615.1(CC2D2A):c.865C>A (p.Pro289Thr) rs371405756 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_006642.5(SDCCAG8):c.929+17G>A rs376439930 0.00014
NM_012144.4(DNAI1):c.741G>A (p.Lys247=) rs562408105 0.00014
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) rs142257947 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014956.5(CEP164):c.2744G>A (p.Arg915His) rs147802563 0.00014
NM_014956.5(CEP164):c.3912G>A (p.Arg1304=) rs146634951 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015512.5(DNAH1):c.10970C>G (p.Thr3657Arg) rs144668102 0.00014
NM_015512.5(DNAH1):c.1830A>G (p.Thr610=) rs377324795 0.00014
NM_015512.5(DNAH1):c.3399C>T (p.Cys1133=) rs552076854 0.00014
NM_015512.5(DNAH1):c.7410C>T (p.His2470=) rs376198165 0.00014
NM_015662.3(IFT172):c.1524+20C>T rs201838139 0.00014
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val) rs200961120 0.00014
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703 0.00014
NM_016616.5(NME8):c.1630G>A (p.Ala544Thr) rs140494494 0.00014
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00014
NM_017802.4(DNAAF5):c.2196G>A (p.Ser732=) rs374069664 0.00014
NM_017802.4(DNAAF5):c.456C>G (p.Ala152=) rs769656987 0.00014
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr) rs149139347 0.00014
NM_018076.5(ODAD2):c.2151G>A (p.Lys717=) rs375534822 0.00014
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val) rs200291432 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_020800.3(IFT80):c.2099+10A>G rs376944901 0.00014
NM_020800.3(IFT80):c.640-4G>A rs376056124 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.822G>A (p.Ser274=) rs140295057 0.00014
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 0.00014
NM_024809.5(TCTN2):c.1394-20A>G rs372424469 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_031924.8(RSPH3):c.204+16A>G rs376731383 0.00014
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432 0.00014
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val) rs142550817 0.00014
NM_052844.4(DYNC2I2):c.741G>A (p.Leu247=) rs370242616 0.00014
NM_080860.4(RSPH1):c.274+18A>C rs199679087 0.00014
NM_145038.5(DRC1):c.1725G>A (p.Ala575=) rs776929224 0.00014
NM_145038.5(DRC1):c.675T>C (p.Ile225=) rs149032953 0.00014
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_153704.6(TMEM67):c.1131+19A>C rs747877982 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_178452.6(DNAAF1):c.863+13A>G rs112775337 0.00014
NM_181426.2(CCDC39):c.1528-4G>T rs1317352666 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met) rs202154504 0.00013
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430 0.00013
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001206927.2(DNAH8):c.5408T>C (p.Val1803Ala) rs534783808 0.00013
NM_001206927.2(DNAH8):c.5667C>T (p.Ser1889=) rs143295890 0.00013
NM_001206927.2(DNAH8):c.8475A>T (p.Gly2825=) rs181734263 0.00013
NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=) rs201887376 0.00013
NM_001256715.2(DNAAF3):c.681C>T (p.Pro227=) rs764852012 0.00013
NM_001277115.2(DNAH11):c.10122A>G (p.Lys3374=) rs764350537 0.00013
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu) rs200099996 0.00013
NM_001277115.2(DNAH11):c.4500+12A>G rs376564371 0.00013
NM_001277115.2(DNAH11):c.4620G>A (p.Gln1540=) rs192515447 0.00013
NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe) rs201671992 0.00013
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00013
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) rs527907908 0.00013
NM_001369.3(DNAH5):c.11934G>A (p.Pro3978=) rs370543923 0.00013
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) rs182512638 0.00013
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) rs199667661 0.00013
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=) rs763731693 0.00013
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly) rs199910966 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001378615.1(CC2D2A):c.2431G>A (p.Glu811Lys) rs201303853 0.00013
NM_001378615.1(CC2D2A):c.3744G>T (p.Leu1248=) rs755747140 0.00013
NM_001382391.1(CSPP1):c.1245+15dup rs766672873 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_001481.3(GAS8):c.105C>T (p.Val35=) rs138829033 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.873C>T (p.Asn291=) rs149755302 0.00013
NM_012472.6(DNAAF11):c.369C>T (p.Asn123=) rs373347833 0.00013
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) rs151198844 0.00013
NM_014714.4(IFT140):c.2388G>A (p.Lys796=) rs761593016 0.00013
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_015272.5(RPGRIP1L):c.2874+8T>C rs371853408 0.00013
NM_015512.5(DNAH1):c.10052+10C>G rs368865494 0.00013
NM_015512.5(DNAH1):c.5214C>T (p.Phe1738=) rs200175873 0.00013
NM_015512.5(DNAH1):c.5289G>A (p.Ser1763=) rs376275863 0.00013
NM_015512.5(DNAH1):c.8206T>C (p.Cys2736Arg) rs749686324 0.00013
NM_015662.3(IFT172):c.2877+16G>A rs371011283 0.00013
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00013
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_016616.5(NME8):c.723A>G (p.Glu241=) rs140957789 0.00013
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.903C>T (p.Thr301=) rs142805406 0.00013
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr) rs141828030 0.00013
NM_017802.4(DNAAF5):c.1812C>T (p.His604=) rs190772196 0.00013
NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=) rs199992201 0.00013
NM_018051.5(DYNC2I1):c.1041G>A (p.Pro347=) rs202014035 0.00013
NM_018076.5(ODAD2):c.26C>T (p.Thr9Met) rs181484327 0.00013
NM_019892.6(INPP5E):c.1387+8C>T rs374620221 0.00013
NM_019892.6(INPP5E):c.1697G>A (p.Gly566Asp) rs140543689 0.00013
NM_019892.6(INPP5E):c.813-9C>A rs771055995 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=) rs538590274 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_033028.5(BBS4):c.587+12T>C rs371519164 0.00013
NM_052844.4(DYNC2I2):c.1372+14G>A rs376782086 0.00013
NM_080860.4(RSPH1):c.649T>C (p.Leu217=) rs142072750 0.00013
NM_145038.5(DRC1):c.1724C>T (p.Ala575Val) rs149284367 0.00013
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_176824.3(BBS7):c.123T>C (p.Asp41=) rs148011561 0.00013
NM_178452.6(DNAAF1):c.1529-18C>G rs199720934 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_178452.6(DNAAF1):c.393G>T (p.Leu131=) rs569848695 0.00013
NM_181426.2(CCDC39):c.1362+13T>C rs369141426 0.00013
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) rs201923286 0.00013
NM_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp) rs371226433 0.00012
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00012
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001082538.3(TCTN1):c.823-6A>G rs377230085 0.00012
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) rs371243793 0.00012
NM_001199397.3(NEK1):c.114A>T (p.Ser38=) rs778749876 0.00012
NM_001199397.3(NEK1):c.397-4A>G rs374280409 0.00012
NM_001277115.2(DNAH11):c.12057C>T (p.Phe4019=) rs200441507 0.00012
NM_001329943.3(KIAA0586):c.411-1476T>G rs768486087 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889 0.00012
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) rs199766341 0.00012
NM_001377.3(DYNC2H1):c.2210T>A (p.Phe737Tyr) rs200599406 0.00012
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277 0.00012
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696 0.00012
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.450+20C>T rs201559095 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln) rs113065116 0.00012
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) rs746724587 0.00012
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) rs369933035 0.00012
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) rs372836006 0.00012
NM_001384732.1(CPLANE1):c.834+15G>A rs373984590 0.00012
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn) rs141234041 0.00012
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu) rs200760486 0.00012
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=) rs148808566 0.00012
NM_015512.5(DNAH1):c.1034-10C>T rs374296388 0.00012
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956 0.00012
NM_015631.6(TCTN3):c.159G>A (p.Ala53=) rs540555381 0.00012
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2343A>G (p.Lys781=) rs374062028 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.2642+13G>A rs201243826 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015662.3(IFT172):c.5161-12A>G rs368863616 0.00012
NM_015662.3(IFT172):c.918A>G (p.Leu306=) rs746380795 0.00012
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948 0.00012
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 0.00012
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_023036.6(DNAI2):c.1264G>A (p.Val422Ile) rs201801542 0.00012
NM_024649.5(BBS1):c.330T>C (p.Pro110=) rs760469814 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024753.5(TTC21B):c.1725A>G (p.Lys575=) rs771273516 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_033028.5(BBS4):c.372T>C (p.Tyr124=) rs141903251 0.00012
NM_033028.5(BBS4):c.513T>C (p.Tyr171=) rs367882912 0.00012
NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys) rs186236478 0.00012
NM_052844.4(DYNC2I2):c.390C>T (p.His130=) rs760042500 0.00012
NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu) rs188055173 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 0.00012
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00012
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=) rs769877978 0.00012
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) rs4150188 0.00012
NM_198525.3(KIF7):c.2719-12A>C rs979287158 0.00012
NM_198525.3(KIF7):c.3664+15C>T rs199716624 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001134831.2(AHI1):c.1173C>T (p.Tyr391=) rs374015573 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.3068C>T (p.Thr1023Ile) rs370340493 0.00011
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met) rs756217962 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=) rs1001897568 0.00011
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=) rs757747641 0.00011
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=) rs184270885 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001206927.2(DNAH8):c.12590C>T (p.Thr4197Met) rs146314121 0.00011
NM_001206927.2(DNAH8):c.5528A>G (p.Asp1843Gly) rs140442435 0.00011
NM_001206927.2(DNAH8):c.6255C>T (p.Val2085=) rs199546078 0.00011
NM_001206927.2(DNAH8):c.7068G>T (p.Thr2356=) rs760793116 0.00011
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=) rs565551381 0.00011
NM_001277115.2(DNAH11):c.10569-15C>T rs371205337 0.00011
NM_001277115.2(DNAH11):c.10896+18A>G rs371959142 0.00011
NM_001277115.2(DNAH11):c.2826G>A (p.Pro942=) rs368794820 0.00011
NM_001277115.2(DNAH11):c.3201T>C (p.His1067=) rs367776408 0.00011
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu) rs772913999 0.00011
NM_001277115.2(DNAH11):c.6684-7A>G rs183865018 0.00011
NM_001277115.2(DNAH11):c.7134+16C>T rs367821670 0.00011
NM_001277115.2(DNAH11):c.8382G>A (p.Lys2794=) rs200214408 0.00011
NM_001277115.2(DNAH11):c.9279C>T (p.Ser3093=) rs200160729 0.00011
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) rs780091990 0.00011
NM_001364171.2(ODAD1):c.2091G>A (p.Pro697=) rs572589870 0.00011
NM_001364171.2(ODAD1):c.853+19C>T rs200495728 0.00011
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile) rs373406041 0.00011
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=) rs376510352 0.00011
NM_001369.3(DNAH5):c.13724-17T>G rs201764984 0.00011
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327 0.00011
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001369.3(DNAH5):c.3397-8G>T rs200694593 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_001369.3(DNAH5):c.4053+13C>T rs543363871 0.00011
NM_001369.3(DNAH5):c.4440C>T (p.Cys1480=) rs376618204 0.00011
NM_001369.3(DNAH5):c.4860C>T (p.Asp1620=) rs139447802 0.00011
NM_001369.3(DNAH5):c.4881G>A (p.Thr1627=) rs751858022 0.00011
NM_001369.3(DNAH5):c.5265C>T (p.His1755=) rs373540353 0.00011
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn) rs149834171 0.00011
NM_001369.3(DNAH5):c.7605C>T (p.Pro2535=) rs375573515 0.00011
NM_001369.3(DNAH5):c.8921G>A (p.Gly2974Asp) rs373899654 0.00011
NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=) rs372078743 0.00011
NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met) rs201246193 0.00011
NM_001377.3(DYNC2H1):c.10236A>G (p.Lys3412=) rs576479283 0.00011
NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg) rs375299740 0.00011
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.4378+11A>G rs375337802 0.00011
NM_001377.3(DYNC2H1):c.6057A>G (p.Leu2019=) rs187190605 0.00011
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262 0.00011
NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=) rs139319426 0.00011
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728 0.00011
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=) rs184736482 0.00011
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=) rs774630940 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378615.1(CC2D2A):c.1359+10A>G rs373012628 0.00011
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) rs768337150 0.00011
NM_001378615.1(CC2D2A):c.2595C>T (p.Pro865=) rs770469717 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn) rs758661538 0.00011
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) rs548142175 0.00011
NM_003114.5(SPAG1):c.1500A>G (p.Glu500=) rs201123591 0.00011
NM_003114.5(SPAG1):c.639G>A (p.Lys213=) rs751691673 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_012210.4(TRIM32):c.330A>G (p.Gln110=) rs770015462 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_014704.4(CEP104):c.1950A>G (p.Pro650=) rs150482833 0.00011
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.4125C>T (p.Ile1375=) rs543475833 0.00011
NM_014956.5(CEP164):c.1320C>T (p.Ala440=) rs145815710 0.00011
NM_014956.5(CEP164):c.1401G>A (p.Leu467=) rs138093785 0.00011
NM_014956.5(CEP164):c.3278+11A>G rs761420267 0.00011
NM_014956.5(CEP164):c.3279-20C>T rs375870273 0.00011
NM_015102.5(NPHP4):c.280-4G>A rs190495420 0.00011
NM_015102.5(NPHP4):c.3044+11A>C rs778862383 0.00011
NM_015272.5(RPGRIP1L):c.1029+10C>A rs542635220 0.00011
NM_015512.5(DNAH1):c.10683G>A (p.Pro3561=) rs372328204 0.00011
NM_015512.5(DNAH1):c.10698G>A (p.Leu3566=) rs201495938 0.00011
NM_015512.5(DNAH1):c.3508T>A (p.Ser1170Thr) rs201354986 0.00011
NM_015512.5(DNAH1):c.5094+7G>A rs372451486 0.00011
NM_015512.5(DNAH1):c.7368C>T (p.Ala2456=) rs760944116 0.00011
NM_015512.5(DNAH1):c.8373G>A (p.Glu2791=) rs370329447 0.00011
NM_015631.6(TCTN3):c.1452+16T>C rs779934498 0.00011
NM_015662.3(IFT172):c.2878-13T>C rs374938451 0.00011
NM_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_016616.5(NME8):c.285C>T (p.Ile95=) rs201295247 0.00011
NM_017777.4(MKS1):c.1287G>A (p.Leu429=) rs555977738 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1605C>G (p.Ala535=) rs35493987 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.1653G>C (p.Val551=) rs34092089 0.00011
NM_017802.4(DNAAF5):c.2490C>T (p.Ala830=) rs774657675 0.00011
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr) rs202123909 0.00011
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578 0.00011
NM_017950.4(CCDC40):c.3021+13G>A rs762011731 0.00011
NM_017950.4(CCDC40):c.3348C>T (p.Asp1116=) rs377559639 0.00011
NM_018076.5(ODAD2):c.1534-12T>C rs760820385 0.00011
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His) rs371126037 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) rs200861036 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024753.5(TTC21B):c.1116G>A (p.Gly372=) rs771405314 0.00011
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=) rs778596948 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.2055T>C (p.Cys685=) rs368336762 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.3615C>T (p.Gly1205=) rs202102903 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_031427.4(DNAL1):c.6G>A (p.Ala2=) rs1265630707 0.00011
NM_052844.4(DYNC2I2):c.276C>T (p.Pro92=) rs368169728 0.00011
NM_145038.5(DRC1):c.1124G>A (p.Arg375His) rs141347582 0.00011
NM_145045.5(ODAD3):c.841-16C>T rs373293869 0.00011
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_152384.3(BBS5):c.209-19C>A rs564695479 0.00011
NM_152732.5(RSPH9):c.288G>A (p.Ser96=) rs368692729 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_176824.3(BBS7):c.718+9T>C rs374523374 0.00011
NM_178452.6(DNAAF1):c.2065+5G>A rs774606576 0.00011
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) rs145469545 0.00011
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=) rs764624773 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_181426.2(CCDC39):c.1034+11A>G rs780737889 0.00011
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_181426.2(CCDC39):c.255T>C (p.His85=) rs769151570 0.00011
NM_181426.2(CCDC39):c.357+8T>C rs374226135 0.00011
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) rs775454434 0.00011
NM_198428.3(BBS9):c.1790-16A>G rs545383863 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198525.3(KIF7):c.1740G>A (p.Pro580=) rs200473560 0.00011
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.3525C>T (p.Leu1175=) rs145915541 0.00011
NM_198525.3(KIF7):c.3690G>A (p.Ser1230=) rs376563309 0.00011
NM_213607.3(CCDC103):c.182G>A (p.Arg61Gln) rs150876063 0.00011
NM_001010892.3(RSPH4A):c.1920G>A (p.Lys640=) rs560185647 0.00010
NM_001023570.4(IQCB1):c.588-16T>A rs766712921 0.00010
NM_001023570.4(IQCB1):c.767-12A>G rs367899924 0.00010
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val) rs199661899 0.00010
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=) rs373685803 0.00010
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_001206927.2(DNAH8):c.10548C>A (p.Gly3516=) rs200840791 0.00010
NM_001206927.2(DNAH8):c.4845+9G>A rs373670534 0.00010
NM_001206927.2(DNAH8):c.6847C>T (p.Leu2283=) rs200508313 0.00010
NM_001206927.2(DNAH8):c.7346G>T (p.Arg2449Leu) rs149449115 0.00010
NM_001256715.2(DNAAF3):c.480+14G>A rs751887577 0.00010
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala) rs372733227 0.00010
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=) rs370038827 0.00010
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met) rs368578923 0.00010
NM_001277115.2(DNAH11):c.7311G>A (p.Glu2437=) rs762639291 0.00010
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272 0.00010
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu) rs201978870 0.00010
NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile) rs190964996 0.00010
NM_001364171.2(ODAD1):c.325G>A (p.Glu109Lys) rs368408933 0.00010
NM_001364171.2(ODAD1):c.697C>T (p.Arg233Trp) rs200168343 0.00010
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) rs267600357 0.00010
NM_001369.3(DNAH5):c.11700C>G (p.Thr3900=) rs777190482 0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00010
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=) rs146330391 0.00010
NM_001369.3(DNAH5):c.13410G>A (p.Ser4470=) rs368920785 0.00010
NM_001369.3(DNAH5):c.1434A>G (p.Arg478=) rs140693210 0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00010
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 0.00010
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00010
NM_001369.3(DNAH5):c.7899G>A (p.Glu2633=) rs368050409 0.00010
NM_001369.3(DNAH5):c.9108C>A (p.Val3036=) rs750009811 0.00010
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) rs201473584 0.00010
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557 0.00010
NM_001377.3(DYNC2H1):c.9820-8T>A rs750689751 0.00010
NM_001378454.1(ALMS1):c.12298+14G>A rs755931726 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378615.1(CC2D2A):c.4303G>A (p.Gly1435Ser) rs56265649 0.00010
NM_001378615.1(CC2D2A):c.4818T>C (p.Val1606=) rs373897309 0.00010
NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=) rs771694343 0.00010
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) rs756274300 0.00010
NM_001481.3(GAS8):c.69A>G (p.Pro23=) rs200245827 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_006642.5(SDCCAG8):c.740+14G>A rs373462087 0.00010
NM_006642.5(SDCCAG8):c.929+16C>T rs374451621 0.00010
NM_014714.4(IFT140):c.1010-19A>G rs369000362 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.2399+12G>A rs762486311 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
NM_014956.5(CEP164):c.534G>A (p.Gln178=) rs148498531 0.00010
NM_015102.5(NPHP4):c.280-18C>G rs367703759 0.00010
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=) rs774172381 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=) rs1349302634 0.00010
NM_015512.5(DNAH1):c.11802C>T (p.Tyr3934=) rs370625649 0.00010
NM_015512.5(DNAH1):c.2647-12C>A rs373532178 0.00010
NM_015512.5(DNAH1):c.4396C>T (p.Leu1466Phe) rs368608665 0.00010
NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=) rs370197256 0.00010
NM_015512.5(DNAH1):c.9588G>A (p.Thr3196=) rs751393038 0.00010
NM_015631.6(TCTN3):c.1299-11T>C rs532774999 0.00010
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852 0.00010
NM_015662.3(IFT172):c.337-5C>T rs141086523 0.00010
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=) rs369463180 0.00010
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704 0.00010
NM_016616.5(NME8):c.486G>A (p.Pro162=) rs199713986 0.00010
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile) rs145938269 0.00010
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=) rs368936903 0.00010
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=) rs142939429 0.00010
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.666G>A (p.Ser222=) rs199671771 0.00010
NM_017950.4(CCDC40):c.696C>T (p.Pro232=) rs200710012 0.00010
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505 0.00010
NM_018051.5(DYNC2I1):c.1977C>T (p.Ser659=) rs371944841 0.00010
NM_018076.5(ODAD2):c.765C>T (p.His255=) rs147124402 0.00010
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135 0.00010
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_025114.4(CEP290):c.298-15G>T rs756197493 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_025132.4(WDR19):c.3359-8T>G rs375839756 0.00010
NM_025132.4(WDR19):c.890+19T>A rs745976180 0.00010
NM_031427.4(DNAL1):c.4-10T>G rs776047200 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_152384.3(BBS5):c.861T>C (p.Asp287=) rs1321191223 0.00010
NM_170784.3(MKKS):c.1167G>A (p.Thr389=) rs367980245 0.00010
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=) rs370819090 0.00010
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_181426.2(CCDC39):c.609+15G>T rs186993887 0.00010
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.1963-13T>C rs775660869 0.00010
NM_198525.3(KIF7):c.2871G>A (p.Glu957=) rs148311253 0.00010
NM_198525.3(KIF7):c.329-13G>C rs771408124 0.00010
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) rs145831200 0.00009
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001190787.3(MCIDAS):c.219C>G (p.Ala73=) rs770934368 0.00009
NM_001199397.3(NEK1):c.2375G>A (p.Gly792Asp) rs200643637 0.00009
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 0.00009
NM_001199397.3(NEK1):c.725A>T (p.Asn242Ile) rs562597839 0.00009
NM_001206927.2(DNAH8):c.10500C>A (p.Ile3500=) rs202065447 0.00009
NM_001206927.2(DNAH8):c.12720C>T (p.Arg4240=) rs148559694 0.00009
NM_001206927.2(DNAH8):c.1294-13C>T rs980042927 0.00009
NM_001206927.2(DNAH8):c.13683G>A (p.Val4561=) rs201274048 0.00009
NM_001206927.2(DNAH8):c.2946G>A (p.Lys982=) rs146331687 0.00009
NM_001206927.2(DNAH8):c.3480C>T (p.Asp1160=) rs139961123 0.00009
NM_001206927.2(DNAH8):c.762+18C>T rs150392690 0.00009
NM_001206927.2(DNAH8):c.8505T>C (p.Cys2835=) rs145125117 0.00009
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=) rs535847014 0.00009
NM_001277115.2(DNAH11):c.11457C>T (p.Pro3819=) rs201185369 0.00009
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=) rs752183095 0.00009
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr) rs771891040 0.00009
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val) rs187510989 0.00009
NM_001277115.2(DNAH11):c.4377+10T>G rs144229693 0.00009
NM_001277115.2(DNAH11):c.4987C>T (p.Leu1663=) rs541180386 0.00009
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys) rs374335908 0.00009
NM_001277115.2(DNAH11):c.8798-4G>A rs374160369 0.00009
NM_001329943.3(KIAA0586):c.3859-17C>T rs764917881 0.00009
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) rs750833160 0.00009
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814 0.00009
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) rs550354835 0.00009
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00009
NM_001364171.2(ODAD1):c.1689C>T (p.Ala563=) rs139270932 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) rs149580135 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13038T>A (p.Gly4346=) rs768406077 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.1959G>A (p.Thr653=) rs141736046 0.00009
NM_001369.3(DNAH5):c.393C>T (p.Ile131=) rs202190908 0.00009
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His) rs773599958 0.00009
NM_001369.3(DNAH5):c.633G>A (p.Ser211=) rs151075351 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001369.3(DNAH5):c.9816C>T (p.Ser3272=) rs749710045 0.00009
NM_001375405.1(CEP120):c.1038+20C>T rs368172739 0.00009
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=) rs775505863 0.00009
NM_001377.3(DYNC2H1):c.12833A>T (p.Asp4278Val) rs200268681 0.00009
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.2632A>G (p.Thr878Ala) rs539456541 0.00009
NM_001377.3(DYNC2H1):c.2702+18A>G rs376509072 0.00009
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His) rs191869845 0.00009
NM_001377.3(DYNC2H1):c.7140+10A>C rs776590592 0.00009
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065 0.00009
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=) rs377601961 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=) rs186849322 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655 0.00009
NM_001378615.1(CC2D2A):c.2182-8G>A rs370731685 0.00009
NM_001378615.1(CC2D2A):c.3772-4G>A rs369928983 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.3972T>C (p.Thr1324=) rs201357637 0.00009
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001378615.1(CC2D2A):c.847A>C (p.Arg283=) rs201649290 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001382391.1(CSPP1):c.1697+19G>T rs563103826 0.00009
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) rs755021253 0.00009
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) rs763639767 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) rs188917565 0.00009
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) rs145635985 0.00009
NM_001481.3(GAS8):c.1236G>A (p.Ser412=) rs377091915 0.00009
NM_001481.3(GAS8):c.261C>T (p.Ala87=) rs186100715 0.00009
NM_003114.5(SPAG1):c.132C>T (p.Cys44=) rs376986262 0.00009
NM_003114.5(SPAG1):c.2769G>A (p.Gln923=) rs768865173 0.00009
NM_003114.5(SPAG1):c.488+19T>C rs749219410 0.00009
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) rs375698090 0.00009
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=) rs199629519 0.00009
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=) rs371251483 0.00009
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_012144.4(DNAI1):c.262-10C>G rs371157271 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012210.4(TRIM32):c.1040A>T (p.Glu347Val) rs749760133 0.00009
NM_012210.4(TRIM32):c.366C>G (p.Pro122=) rs137947083 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950 0.00009
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn) rs369848545 0.00009
NM_014714.4(IFT140):c.2768+9G>A rs780735055 0.00009
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.3661-7T>C rs371103301 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014714.4(IFT140):c.4260G>C (p.Val1420=) rs200228341 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014956.5(CEP164):c.3748+17C>T rs373984666 0.00009
NM_014956.5(CEP164):c.4371G>A (p.Val1457=) rs781453124 0.00009
NM_015512.5(DNAH1):c.12282G>A (p.Leu4094=) rs144539468 0.00009
NM_015512.5(DNAH1):c.5985T>G (p.Ala1995=) rs370203067 0.00009
NM_015512.5(DNAH1):c.6259-9C>T rs1431111813 0.00009
NM_015512.5(DNAH1):c.7199-13C>T rs372033446 0.00009
NM_015512.5(DNAH1):c.7311C>G (p.Thr2437=) rs377529523 0.00009
NM_015512.5(DNAH1):c.9622-6C>T rs946083803 0.00009
NM_015631.6(TCTN3):c.576C>T (p.Gly192=) rs143020764 0.00009
NM_015662.3(IFT172):c.1006-13G>C rs753018358 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_015662.3(IFT172):c.337-4G>A rs374002706 0.00009
NM_015896.4(ZMYND10):c.588C>T (p.Asp196=) rs767001214 0.00009
NM_015896.4(ZMYND10):c.999+7A>T rs188791547 0.00009
NM_015910.7(WDPCP):c.2159-13T>C rs202221613 0.00009
NM_015910.7(WDPCP):c.738C>T (p.Asn246=) rs543308588 0.00009
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_016616.5(NME8):c.440C>T (p.Pro147Leu) rs143559107 0.00009
NM_016616.5(NME8):c.529-8A>C rs374765720 0.00009
NM_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_017802.4(DNAAF5):c.447G>C (p.Leu149=) rs969984227 0.00009
NM_017802.4(DNAAF5):c.595+18C>T rs886038637 0.00009
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_017950.4(CCDC40):c.1563-15G>A rs752972291 0.00009
NM_017950.4(CCDC40):c.2235+15A>G rs566067180 0.00009
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_018051.5(DYNC2I1):c.1032C>A (p.Asp344Glu) rs140137568 0.00009
NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=) rs573392724 0.00009
NM_018051.5(DYNC2I1):c.2779-6T>G rs190324060 0.00009
NM_018076.5(ODAD2):c.1218C>T (p.His406=) rs774971206 0.00009
NM_018076.5(ODAD2):c.2610+9G>A rs374705044 0.00009
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=) rs528176529 0.00009
NM_019892.6(INPP5E):c.1494G>A (p.Val498=) rs138525676 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) rs199882056 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.550-16T>C rs773225164 0.00009
NM_023036.6(DNAI2):c.1485A>G (p.Val495=) rs200587166 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_023036.6(DNAI2):c.231C>T (p.Val77=) rs370352545 0.00009
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1404G>A (p.Leu468=) rs140013934 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.1923A>G (p.Gln641=) rs150622892 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025132.4(WDR19):c.1638C>T (p.Asp546=) rs753505214 0.00009
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_025132.4(WDR19):c.795T>C (p.Gly265=) rs771396030 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_031427.4(DNAL1):c.243C>T (p.Asn81=) rs886050685 0.00009
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.870C>T (p.Ala290=) rs750516217 0.00009
NM_052844.4(DYNC2I2):c.228C>T (p.Ser76=) rs143075961 0.00009
NM_144596.4(TTC8):c.1432-16C>T rs373971173 0.00009
NM_145045.5(ODAD3):c.1032G>A (p.Glu344=) rs774347087 0.00009
NM_145045.5(ODAD3):c.1277+12G>C rs767022573 0.00009
NM_145045.5(ODAD3):c.1344C>T (p.Ala448=) rs763572006 0.00009
NM_145045.5(ODAD3):c.1676-10C>A rs774070038 0.00009
NM_145045.5(ODAD3):c.612+8C>T rs368905235 0.00009
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 0.00009
NM_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=) rs768024430 0.00009
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) rs764511452 0.00009
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530 0.00009
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=) rs759900725 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_198525.3(KIF7):c.3201G>A (p.Gln1067=) rs201342316 0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_001010892.3(RSPH4A):c.651C>T (p.Tyr217=) rs140811116 0.00008
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001134831.2(AHI1):c.3589-16G>A rs201034412 0.00008
NM_001190787.3(MCIDAS):c.144C>T (p.Phe48=) rs1014552272 0.00008
NM_001190787.3(MCIDAS):c.24G>A (p.Ala8=) rs1005463713 0.00008
NM_001199397.3(NEK1):c.1750-6T>C rs187716707 0.00008
NM_001206927.2(DNAH8):c.2286G>A (p.Pro762=) rs141715565 0.00008
NM_001206927.2(DNAH8):c.4866T>A (p.Ile1622=) rs371132948 0.00008
NM_001206927.2(DNAH8):c.7858+20C>A rs183425377 0.00008
NM_001206927.2(DNAH8):c.8584-18A>G rs755504939 0.00008
NM_001206927.2(DNAH8):c.9972A>C (p.Ala3324=) rs755263773 0.00008
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val) rs370443558 0.00008
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile) rs528354205 0.00008
NM_001277115.2(DNAH11):c.12344T>G (p.Ile4115Ser) rs371418299 0.00008
NM_001277115.2(DNAH11):c.12948A>G (p.Leu4316=) rs746607145 0.00008
NM_001277115.2(DNAH11):c.2668-5T>C rs72655999 0.00008
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn) rs754921505 0.00008
NM_001277115.2(DNAH11):c.3649-14C>G rs750945230 0.00008
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=) rs374551688 0.00008
NM_001277115.2(DNAH11):c.4012-8G>A rs374349753 0.00008
NM_001278293.3(ARL6):c.350-7C>T rs375454860 0.00008
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) rs368984896 0.00008
NM_001329943.3(KIAA0586):c.962-14A>T rs200528557 0.00008
NM_001369.3(DNAH5):c.10420-5G>T rs754497052 0.00008
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00008
NM_001369.3(DNAH5):c.2170A>G (p.Met724Val) rs202195680 0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) rs147108941 0.00008
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508 0.00008
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His) rs150739124 0.00008
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr) rs536502106 0.00008
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709 0.00008
NM_001369.3(DNAH5):c.6813C>T (p.Cys2271=) rs373542336 0.00008
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala) rs371099382 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001369.3(DNAH5):c.9619T>C (p.Leu3207=) rs753402995 0.00008
NM_001375405.1(CEP120):c.1431-12T>A rs1224838538 0.00008
NM_001377.3(DYNC2H1):c.10042+8A>C rs375945170 0.00008
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948 0.00008
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) rs781691287 0.00008
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=) rs375593700 0.00008
NM_001378454.1(ALMS1):c.8349A>G (p.Lys2783=) rs543502603 0.00008
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151 0.00008
NM_001378615.1(CC2D2A):c.1341G>A (p.Ala447=) rs376651324 0.00008
NM_001378615.1(CC2D2A):c.2003+15C>T rs780860390 0.00008
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg) rs201946793 0.00008
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=) rs772272007 0.00008
NM_001378615.1(CC2D2A):c.881-8C>T rs114387988 0.00008
NM_001481.3(GAS8):c.924+11C>T rs199773715 0.00008
NM_003114.5(SPAG1):c.141-16T>C rs560336102 0.00008
NM_006642.5(SDCCAG8):c.1744+20T>G rs368472127 0.00008
NM_012144.4(DNAI1):c.1570-6G>A rs370622070 0.00008
NM_012144.4(DNAI1):c.682-15C>G rs199865010 0.00008
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_012472.6(DNAAF11):c.186T>C (p.Val62=) rs112144537 0.00008
NM_014704.4(CEP104):c.113+14G>A rs369214357 0.00008
NM_014704.4(CEP104):c.1485+20G>A rs368037840 0.00008
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00008
NM_014714.4(IFT140):c.210C>T (p.His70=) rs145160997 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.3466C>T (p.Leu1156=) rs28718802 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=) rs371631049 0.00008
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) rs547718820 0.00008
NM_015512.5(DNAH1):c.2221A>G (p.Met741Val) rs576655203 0.00008
NM_015512.5(DNAH1):c.2301-19G>A rs767149546 0.00008
NM_015512.5(DNAH1):c.2529C>T (p.Ile843=) rs200437374 0.00008
NM_015512.5(DNAH1):c.3859-12C>T rs369217075 0.00008
NM_015512.5(DNAH1):c.5772C>T (p.Asp1924=) rs187752630 0.00008
NM_015512.5(DNAH1):c.7689C>T (p.Asp2563=) rs373427372 0.00008
NM_015512.5(DNAH1):c.9519C>T (p.Tyr3173=) rs375621008 0.00008
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) rs370069674 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.2103C>A (p.Ile701=) rs138604630 0.00008
NM_015662.3(IFT172):c.2366G>A (p.Arg789Gln) rs148237432 0.00008
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_015896.4(ZMYND10):c.1116G>A (p.Ala372=) rs143000634 0.00008
NM_015896.4(ZMYND10):c.831G>A (p.Ala277=) rs587594668 0.00008
NM_017777.4(MKS1):c.323G>A (p.Arg108His) rs200331553 0.00008
NM_017777.4(MKS1):c.759G>A (p.Thr253=) rs770140009 0.00008
NM_017802.4(DNAAF5):c.2142G>A (p.Ser714=) rs113450580 0.00008
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_017950.4(CCDC40):c.1806+15G>A rs767093580 0.00008
NM_017950.4(CCDC40):c.2325G>A (p.Val775=) rs1483877024 0.00008
NM_018051.5(DYNC2I1):c.732A>G (p.Lys244=) rs369650727 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_019892.6(INPP5E):c.588C>T (p.Ala196=) rs368034918 0.00008
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_021147.5(CCNO):c.206A>G (p.Asp69Gly) rs372247606 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_024649.5(BBS1):c.234C>T (p.Thr78=) rs748732460 0.00008
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_024753.5(TTC21B):c.1046C>A (p.Thr349Asn) rs753999114 0.00008
NM_024753.5(TTC21B):c.2010T>A (p.Ile670=) rs757679360 0.00008
NM_024753.5(TTC21B):c.3495G>A (p.Thr1165=) rs147524050 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_024809.5(TCTN2):c.669G>A (p.Thr223=) rs199981419 0.00008
NM_025114.4(CEP290):c.102+15A>G rs372102947 0.00008
NM_025114.4(CEP290):c.1360-10T>C rs372180862 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.2151G>A (p.Glu717=) rs747574122 0.00008
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) rs748535483 0.00008
NM_031885.5(BBS2):c.117+14C>T rs372785118 0.00008
NM_031885.5(BBS2):c.1215C>T (p.Ser405=) rs768053787 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031924.8(RSPH3):c.780G>A (p.Gln260=) rs779361922 0.00008
NM_052844.4(DYNC2I2):c.1373-20G>A rs201988969 0.00008
NM_144596.4(TTC8):c.1347+18G>A rs368504643 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 0.00008
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_176824.3(BBS7):c.864C>T (p.Ser288=) rs142376157 0.00008
NM_181426.2(CCDC39):c.2736G>A (p.Pro912=) rs183889161 0.00008
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_198525.3(KIF7):c.3966C>T (p.Ser1322=) rs148134313 0.00008
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) rs143732959 0.00007
NM_001010892.3(RSPH4A):c.922-16G>A rs750183884 0.00007
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=) rs370332260 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=) rs12514445 0.00007
NM_001199397.3(NEK1):c.3093A>G (p.Gln1031=) rs760811823 0.00007
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr) rs369473998 0.00007
NM_001206927.2(DNAH8):c.13941C>A (p.Pro4647=) rs151211156 0.00007
NM_001206927.2(DNAH8):c.6987G>T (p.Val2329=) rs751705607 0.00007
NM_001206927.2(DNAH8):c.7281C>A (p.Ile2427=) rs544209258 0.00007
NM_001206927.2(DNAH8):c.8160T>C (p.Asp2720=) rs139459495 0.00007
NM_001206927.2(DNAH8):c.8880A>T (p.Pro2960=) rs774972147 0.00007
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln) rs373489149 0.00007
NM_001277115.2(DNAH11):c.10440C>T (p.Thr3480=) rs369013054 0.00007
NM_001277115.2(DNAH11):c.10986A>G (p.Gly3662=) rs200604870 0.00007
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=) rs776924184 0.00007
NM_001277115.2(DNAH11):c.12428T>C (p.Met4143Thr) rs751994566 0.00007
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met) rs181603431 0.00007
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=) rs369146775 0.00007
NM_001277115.2(DNAH11):c.2576C>T (p.Ala859Val) rs150414068 0.00007
NM_001277115.2(DNAH11):c.2802A>G (p.Thr934=) rs755239180 0.00007
NM_001277115.2(DNAH11):c.3852+16A>G rs72657306 0.00007
NM_001277115.2(DNAH11):c.6921C>A (p.Thr2307=) rs764765425 0.00007
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu) rs745645801 0.00007
NM_001277115.2(DNAH11):c.8316+4A>C rs779800733 0.00007
NM_001277115.2(DNAH11):c.8316+7G>A rs369837420 0.00007
NM_001277115.2(DNAH11):c.9103-15T>C rs551974653 0.00007
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) rs199623501 0.00007
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) rs534407882 0.00007
NM_001329943.3(KIAA0586):c.962-15A>C rs767414174 0.00007
NM_001364171.2(ODAD1):c.1191T>C (p.Leu397=) rs758310719 0.00007
NM_001364171.2(ODAD1):c.2037C>T (p.Leu679=) rs779297766 0.00007
NM_001364171.2(ODAD1):c.666-9C>T rs754039474 0.00007
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967 0.00007
NM_001369.3(DNAH5):c.11289C>T (p.Asn3763=) rs370292064 0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=) rs369094478 0.00007
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile) rs368448770 0.00007
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly) rs374248199 0.00007
NM_001369.3(DNAH5):c.477C>T (p.Gly159=) rs897766386 0.00007
NM_001369.3(DNAH5):c.5676T>A (p.Ile1892=) rs144828347 0.00007
NM_001369.3(DNAH5):c.8482C>T (p.Arg2828Cys) rs145209155 0.00007
NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn) rs777235472 0.00007
NM_001377.3(DYNC2H1):c.11952T>C (p.Ile3984=) rs777460218 0.00007
NM_001377.3(DYNC2H1):c.6894-5C>T rs552793888 0.00007
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=) rs145984939 0.00007
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=) rs561060460 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837 0.00007
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=) rs369398469 0.00007
NM_001378615.1(CC2D2A):c.2192C>T (p.Thr731Ile) rs758339439 0.00007
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=) rs375278294 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 0.00007
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) rs539302524 0.00007
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001481.3(GAS8):c.54C>T (p.Val18=) rs185349515 0.00007
NM_003611.3(OFD1):c.1620C>T (p.Ala540=) rs142659184 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 0.00007
NM_003611.3(OFD1):c.3024A>G (p.Leu1008=) rs1015323092 0.00007
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_012210.4(TRIM32):c.238C>T (p.Leu80=) rs760820148 0.00007
NM_014704.4(CEP104):c.561C>T (p.Tyr187=) rs374191673 0.00007
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) rs200765913 0.00007
NM_014714.4(IFT140):c.1989C>T (p.Cys663=) rs781117803 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln) rs558519810 0.00007
NM_014714.4(IFT140):c.4298G>A (p.Arg1433His) rs138420849 0.00007
NM_014956.5(CEP164):c.2284-8C>G rs761454104 0.00007
NM_014956.5(CEP164):c.2845-6T>G rs201515694 0.00007
NM_014956.5(CEP164):c.2914-20A>G rs201736952 0.00007
NM_014956.5(CEP164):c.3217-8G>A rs374823549 0.00007
NM_014956.5(CEP164):c.3749-15C>T rs370837032 0.00007
NM_015102.5(NPHP4):c.280-6C>G rs532995236 0.00007
NM_015102.5(NPHP4):c.675C>T (p.Gly225=) rs200203766 0.00007
NM_015512.5(DNAH1):c.10627-9C>T rs372214843 0.00007
NM_015512.5(DNAH1):c.10637G>A (p.Arg3546Gln) rs201932960 0.00007
NM_015512.5(DNAH1):c.11643C>T (p.Tyr3881=) rs574358913 0.00007
NM_015512.5(DNAH1):c.1386C>T (p.Pro462=) rs750795432 0.00007
NM_015512.5(DNAH1):c.4806C>T (p.Thr1602=) rs536663755 0.00007
NM_015512.5(DNAH1):c.8783G>A (p.Arg2928His) rs117873755 0.00007
NM_015662.3(IFT172):c.1525-19C>T rs764463970 0.00007
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=) rs774451726 0.00007
NM_015662.3(IFT172):c.4816-8T>C rs371396353 0.00007
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 0.00007
NM_015910.7(WDPCP):c.499+11C>G rs368323869 0.00007
NM_015910.7(WDPCP):c.708T>C (p.Asp236=) rs190678638 0.00007
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017802.4(DNAAF5):c.735C>T (p.Asp245=) rs766158599 0.00007
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=) rs367861877 0.00007
NM_017950.4(CCDC40):c.1441-8G>T rs762319130 0.00007
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_018051.5(DYNC2I1):c.879+14T>C rs374526880 0.00007
NM_018139.3(DNAAF2):c.1273G>A (p.Ala425Thr) rs764194489 0.00007
NM_018139.3(DNAAF2):c.1401C>T (p.Ser467=) rs368961585 0.00007
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=) rs200484042 0.00007
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
NM_019892.6(INPP5E):c.1387+9G>A rs202236947 0.00007
NM_019892.6(INPP5E):c.1410T>C (p.Asp470=) rs138552060 0.00007
NM_019892.6(INPP5E):c.1549+19G>A rs547569007 0.00007
NM_020347.4(LZTFL1):c.881+18C>T rs535240697 0.00007
NM_020347.4(LZTFL1):c.881+19G>A rs773028690 0.00007
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) rs373983961 0.00007
NM_020800.3(IFT80):c.1664+16G>A rs371952748 0.00007
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876 0.00007
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_020800.3(IFT80):c.38-4A>G rs368059086 0.00007
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=) rs139319121 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.610+12C>T rs374447879 0.00007
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00007
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_033028.5(BBS4):c.405+7A>G rs778651927 0.00007
NM_033124.5(CCDC65):c.1218A>G (p.Lys406=) rs990451120 0.00007
NM_145038.5(DRC1):c.1425G>A (p.Ala475=) rs150563278 0.00007
NM_145038.5(DRC1):c.155+11G>A rs773150423 0.00007
NM_145045.5(ODAD3):c.840+10C>T rs535470120 0.00007
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_152384.3(BBS5):c.143-11T>C rs773551745 0.00007
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866 0.00007
NM_152732.5(RSPH9):c.227+9G>T rs759429967 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=) rs142870415 0.00007
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) rs749497447 0.00007
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) rs371164022 0.00007
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) rs201996796 0.00007
NM_181426.2(CCDC39):c.2580T>C (p.Phe860=) rs779797487 0.00007
NM_181426.2(CCDC39):c.9C>T (p.Ser3=) rs540762763 0.00007
NM_198428.3(BBS9):c.2241C>T (p.Asp747=) rs144089673 0.00007
NM_198525.3(KIF7):c.1707G>T (p.Gly569=) rs373186834 0.00007
NM_198525.3(KIF7):c.3112-17C>T rs776622132 0.00007
NM_198525.3(KIF7):c.3192A>T (p.Thr1064=) rs574281511 0.00007
NM_000328.3(RPGR):c.2242-6T>C rs771389612 0.00006
NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=) rs139855630 0.00006
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) rs146776796 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001034853.2(RPGR):c.1630A>G (p.Ser544Gly) rs878853953 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=) rs751912758 0.00006
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=) rs763386832 0.00006
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=) rs375034561 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=) rs142518256 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln) rs780823419 0.00006
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys) rs370101143 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001174150.2(ARL13B):c.270T>C (p.Tyr90=) rs753336861 0.00006
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842 0.00006
NM_001174150.2(ARL13B):c.486+11T>G rs367759389 0.00006
NM_001174150.2(ARL13B):c.60A>G (p.Arg20=) rs765240700 0.00006
NM_001195305.3(BBIP1):c.168A>G (p.Leu56=) rs990110859 0.00006
NM_001199397.3(NEK1):c.2709C>T (p.Pro903=) rs1487393203 0.00006
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=) rs886059225 0.00006
NM_001199397.3(NEK1):c.551+9A>G rs1469377437 0.00006
NM_001206927.2(DNAH8):c.11712C>T (p.Arg3904=) rs202182124 0.00006
NM_001206927.2(DNAH8):c.13083G>A (p.Pro4361=) rs143472136 0.00006
NM_001206927.2(DNAH8):c.13371+10G>T rs766324900 0.00006
NM_001206927.2(DNAH8):c.14089C>T (p.Leu4697=) rs560936004 0.00006
NM_001206927.2(DNAH8):c.47C>T (p.Ala16Val) rs754105184 0.00006
NM_001206927.2(DNAH8):c.558T>C (p.Asp186=) rs753974910 0.00006
NM_001206927.2(DNAH8):c.6131+18_6131+19insA rs747237940 0.00006
NM_001206927.2(DNAH8):c.6156C>G (p.Ala2052=) rs775922041 0.00006
NM_001206927.2(DNAH8):c.6369T>C (p.Pro2123=) rs759664111 0.00006
NM_001206927.2(DNAH8):c.7728A>G (p.Gly2576=) rs140943630 0.00006
NM_001256715.2(DNAAF3):c.162T>A (p.Ser54=) rs372718229 0.00006
NM_001256715.2(DNAAF3):c.229-6T>C rs764819869 0.00006
NM_001256715.2(DNAAF3):c.378G>A (p.Val126=) rs759904558 0.00006
NM_001256715.2(DNAAF3):c.471C>T (p.Arg157=) rs561398611 0.00006
NM_001277115.2(DNAH11):c.10125C>G (p.Thr3375=) rs192345130 0.00006
NM_001277115.2(DNAH11):c.10176C>T (p.Arg3392=) rs370857029 0.00006
NM_001277115.2(DNAH11):c.11016G>A (p.Glu3672=) rs768633390 0.00006
NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp) rs200648006 0.00006
NM_001277115.2(DNAH11):c.11497-16C>G rs552675105 0.00006
NM_001277115.2(DNAH11):c.13069C>A (p.Arg4357=) rs775720394 0.00006
NM_001277115.2(DNAH11):c.13494C>T (p.Ser4498=) rs368269718 0.00006
NM_001277115.2(DNAH11):c.1503T>G (p.Asn501Lys) rs761860177 0.00006
NM_001277115.2(DNAH11):c.1545T>C (p.Cys515=) rs182332147 0.00006
NM_001277115.2(DNAH11):c.1656G>A (p.Gly552=) rs1159150090 0.00006
NM_001277115.2(DNAH11):c.1711-4A>T rs372207653 0.00006
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=) rs372387032 0.00006
NM_001277115.2(DNAH11):c.3541A>G (p.Ser1181Gly) rs148916596 0.00006
NM_001277115.2(DNAH11):c.3609T>C (p.Tyr1203=) rs371466312 0.00006
NM_001277115.2(DNAH11):c.3726G>A (p.Ala1242=) rs772101696 0.00006
NM_001277115.2(DNAH11):c.3786A>G (p.Arg1262=) rs756045492 0.00006
NM_001277115.2(DNAH11):c.4377+11C>T rs568498841 0.00006
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg) rs374946621 0.00006
NM_001277115.2(DNAH11):c.5622-7C>A rs727503901 0.00006
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=) rs368842512 0.00006
NM_001277115.2(DNAH11):c.6922C>G (p.Pro2308Ala) rs373358447 0.00006
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys) rs368259931 0.00006
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala) rs373850047 0.00006
NM_001277115.2(DNAH11):c.9663C>T (p.Ala3221=) rs566367592 0.00006
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val) rs79874320 0.00006
NM_001278293.3(ARL6):c.453C>T (p.Asn151=) rs947207333 0.00006
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) rs371990780 0.00006
NM_001329943.3(KIAA0586):c.2060-17A>T rs753287970 0.00006
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) rs755369049 0.00006
NM_001329943.3(KIAA0586):c.411-1365C>T rs905321611 0.00006
NM_001329943.3(KIAA0586):c.4496-3801G>A rs575409268 0.00006
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) rs370332963 0.00006
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) rs552791846 0.00006
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=) rs201881960 0.00006
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=) rs139317626 0.00006
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=) rs200974254 0.00006
NM_001369.3(DNAH5):c.10657C>T (p.Arg3553Trp) rs754263109 0.00006
NM_001369.3(DNAH5):c.10785G>A (p.Thr3595=) rs144055129 0.00006
NM_001369.3(DNAH5):c.11529G>T (p.Ser3843=) rs1024441903 0.00006
NM_001369.3(DNAH5):c.11933C>T (p.Pro3978Leu) rs753473802 0.00006
NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=) rs138781046 0.00006
NM_001369.3(DNAH5):c.12492A>C (p.Thr4164=) rs141935657 0.00006
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=) rs990691780 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053 0.00006
NM_001369.3(DNAH5):c.1433G>A (p.Arg478Gln) rs530562885 0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His) rs150601733 0.00006
NM_001369.3(DNAH5):c.192+10G>A rs778696977 0.00006
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=) rs139916610 0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala) rs753696648 0.00006
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) rs201264488 0.00006
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) rs774855042 0.00006
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=) rs78667898 0.00006
NM_001369.3(DNAH5):c.537G>A (p.Thr179=) rs370805321 0.00006
NM_001369.3(DNAH5):c.5485-11A>G rs372860402 0.00006
NM_001369.3(DNAH5):c.573C>T (p.Asp191=) rs773770450 0.00006
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=) rs569572855 0.00006
NM_001369.3(DNAH5):c.6346A>C (p.Arg2116=) rs747370414 0.00006
NM_001369.3(DNAH5):c.660+9G>A rs762915801 0.00006
NM_001369.3(DNAH5):c.6613A>T (p.Ile2205Phe) rs377490104 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 0.00006
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile) rs370292438 0.00006
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.7560G>T (p.Pro2520=) rs762130845 0.00006
NM_001369.3(DNAH5):c.7602G>T (p.Ala2534=) rs770309996 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00006
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00006
NM_001369.3(DNAH5):c.8748C>T (p.Leu2916=) rs556119081 0.00006
NM_001375405.1(CEP120):c.2925C>T (p.Ile975=) rs147730520 0.00006
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535 0.00006
NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=) rs372442744 0.00006
NM_001377.3(DYNC2H1):c.4762+20T>C rs750684131 0.00006
NM_001377.3(DYNC2H1):c.4899T>C (p.Tyr1633=) rs181546925 0.00006
NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=) rs555082393 0.00006
NM_001377.3(DYNC2H1):c.7242A>G (p.Arg2414=) rs369826197 0.00006
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=) rs778594253 0.00006
NM_001377.3(DYNC2H1):c.9624T>G (p.Ala3208=) rs201247414 0.00006
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=) rs769856570 0.00006
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817 0.00006
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=) rs758682688 0.00006
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=) rs764869245 0.00006
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=) rs748955296 0.00006
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=) rs770203539 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=) rs376683428 0.00006
NM_001378454.1(ALMS1):c.4341T>C (p.His1447=) rs770081169 0.00006
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=) rs747216050 0.00006
NM_001378454.1(ALMS1):c.567T>C (p.Ser189=) rs754250279 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=) rs529600949 0.00006
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=) rs561565809 0.00006
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=) rs565248215 0.00006
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 0.00006
NM_001378615.1(CC2D2A):c.1038T>C (p.Asp346=) rs377679382 0.00006
NM_001378615.1(CC2D2A):c.123+12C>A rs547389759 0.00006
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052 0.00006
NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457 0.00006
NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=) rs373780145 0.00006
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val) rs768733110 0.00006
NM_001378615.1(CC2D2A):c.898C>T (p.Leu300Phe) rs779150444 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg) rs188018643 0.00006
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) rs370123119 0.00006
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) rs368660068 0.00006
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) rs148286269 0.00006
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=) rs374320265 0.00006
NM_001384732.1(CPLANE1):c.938+20T>C rs1391242118 0.00006
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) rs200942752 0.00006
NM_001481.3(GAS8):c.1125C>T (p.Ser375=) rs374475661 0.00006
NM_001481.3(GAS8):c.1211G>A (p.Arg404His) rs755682241 0.00006
NM_001481.3(GAS8):c.1413G>A (p.Ala471=) rs150334765 0.00006
NM_001481.3(GAS8):c.316C>G (p.Leu106Val) rs140344685 0.00006
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491 0.00006
NM_003611.3(OFD1):c.2139C>T (p.Val713=) rs764423950 0.00006
NM_003611.3(OFD1):c.2757+8G>A rs766626739 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.432A>G (p.Leu144=) rs759705433 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_006642.5(SDCCAG8):c.1071T>C (p.Ala357=) rs144234264 0.00006
NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=) rs185944691 0.00006
NM_006642.5(SDCCAG8):c.220+20C>T rs200013862 0.00006
NM_006642.5(SDCCAG8):c.99A>G (p.Thr33=) rs150953430 0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.432C>T (p.Leu144=) rs758652167 0.00006
NM_012144.4(DNAI1):c.816+8G>A rs367872627 0.00006
NM_012210.4(TRIM32):c.1416A>G (p.Pro472=) rs374136376 0.00006
NM_012210.4(TRIM32):c.1662T>C (p.Ser554=) rs372044621 0.00006
NM_012210.4(TRIM32):c.987G>A (p.Pro329=) rs760513760 0.00006
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_014704.4(CEP104):c.1194G>A (p.Pro398=) rs372294561 0.00006
NM_014704.4(CEP104):c.2649G>A (p.Pro883=) rs747029336 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.201G>T (p.Leu67=) rs138991209 0.00006
NM_014714.4(IFT140):c.2517G>A (p.Ala839=) rs767699979 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.4131C>T (p.Asp1377=) rs751862515 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.811-16T>C rs367948949 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) rs780666037 0.00006
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_014956.5(CEP164):c.1935-20G>A rs200518210 0.00006
NM_014956.5(CEP164):c.2067-15A>G rs767292266 0.00006
NM_014956.5(CEP164):c.231C>T (p.Phe77=) rs538937913 0.00006
NM_014956.5(CEP164):c.3867G>A (p.Ser1289=) rs752083526 0.00006
NM_014956.5(CEP164):c.501G>A (p.Val167=) rs770213078 0.00006
NM_014956.5(CEP164):c.552+8C>T rs368573245 0.00006
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092 0.00006
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=) rs549925964 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542 0.00006
NM_015512.5(DNAH1):c.10689G>A (p.Pro3563=) rs551397999 0.00006
NM_015512.5(DNAH1):c.10765G>A (p.Asp3589Asn) rs200850423 0.00006
NM_015512.5(DNAH1):c.10914C>T (p.Asn3638=) rs374622615 0.00006
NM_015512.5(DNAH1):c.1113C>T (p.Phe371=) rs367809843 0.00006
NM_015512.5(DNAH1):c.1286+10C>T rs185252204 0.00006
NM_015512.5(DNAH1):c.2715T>C (p.Asp905=) rs199890146 0.00006
NM_015512.5(DNAH1):c.3103C>T (p.Arg1035Cys) rs200988223 0.00006
NM_015512.5(DNAH1):c.4131C>T (p.Ala1377=) rs369871374 0.00006
NM_015512.5(DNAH1):c.4530C>T (p.Asn1510=) rs758327285 0.00006
NM_015512.5(DNAH1):c.462C>T (p.Ile154=) rs759571672 0.00006
NM_015512.5(DNAH1):c.483C>T (p.Leu161=) rs372647456 0.00006
NM_015512.5(DNAH1):c.4929G>A (p.Leu1643=) rs764774433 0.00006
NM_015512.5(DNAH1):c.5031C>T (p.Cys1677=) rs541221186 0.00006
NM_015512.5(DNAH1):c.6057C>T (p.Ile2019=) rs371029266 0.00006
NM_015512.5(DNAH1):c.6519C>T (p.Tyr2173=) rs777504039 0.00006
NM_015512.5(DNAH1):c.6960C>T (p.Gly2320=) rs779773823 0.00006
NM_015512.5(DNAH1):c.739-16G>T rs765068565 0.00006
NM_015512.5(DNAH1):c.7896G>A (p.Ala2632=) rs199613124 0.00006
NM_015631.6(TCTN3):c.1096-13C>T rs372991715 0.00006
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) rs761227686 0.00006
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.1932G>A (p.Ala644=) rs374357498 0.00006
NM_015662.3(IFT172):c.3530+12C>G rs755760582 0.00006
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=) rs377211687 0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015896.4(ZMYND10):c.1080G>A (p.Val360=) rs766017967 0.00006
NM_015910.7(WDPCP):c.254-16A>C rs373967536 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_016616.5(NME8):c.224T>C (p.Leu75Ser) rs541494396 0.00006
NM_016616.5(NME8):c.915C>T (p.Pro305=) rs146004225 0.00006
NM_016616.5(NME8):c.967C>A (p.Arg323=) rs374455803 0.00006
NM_017777.4(MKS1):c.673C>T (p.Leu225=) rs370632053 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017777.4(MKS1):c.894C>T (p.Leu298=) rs754839039 0.00006
NM_017802.4(DNAAF5):c.1258-7C>A rs1181940614 0.00006
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00006
NM_017802.4(DNAAF5):c.516C>G (p.Arg172=) rs1338399884 0.00006
NM_017802.4(DNAAF5):c.534C>G (p.Pro178=) rs543234628 0.00006
NM_017802.4(DNAAF5):c.781-5C>T rs756800404 0.00006
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.1562+12C>T rs369729537 0.00006
NM_017950.4(CCDC40):c.2449+19G>A rs537011469 0.00006
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=) rs372369514 0.00006
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=) rs373348755 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_017950.4(CCDC40):c.39G>A (p.Pro13=) rs777639251 0.00006
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326 0.00006
NM_018051.5(DYNC2I1):c.1326T>C (p.Gly442=) rs532519011 0.00006
NM_018051.5(DYNC2I1):c.985C>T (p.Arg329Trp) rs201649000 0.00006
NM_018076.5(ODAD2):c.1142+15G>A rs374352757 0.00006
NM_018139.3(DNAAF2):c.1053G>C (p.Pro351=) rs780614468 0.00006
NM_018139.3(DNAAF2):c.1674A>G (p.Lys558=) rs368097316 0.00006
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val) rs181040532 0.00006
NM_018139.3(DNAAF2):c.270G>C (p.Val90=) rs767758073 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1387+20G>A rs200094721 0.00006
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295 0.00006
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870 0.00006
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 0.00006
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) rs780105362 0.00006
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) rs759587265 0.00006
NM_020779.4(WDR35):c.657C>T (p.Tyr219=) rs768183424 0.00006
NM_020800.3(IFT80):c.1380+15C>A rs772668269 0.00006
NM_020800.3(IFT80):c.381T>C (p.Asp127=) rs369785345 0.00006
NM_021147.5(CCNO):c.887G>A (p.Arg296Gln) rs761492748 0.00006
NM_023036.6(DNAI2):c.1495-4C>A rs765760420 0.00006
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) rs777369529 0.00006
NM_024649.5(BBS1):c.592-19C>T rs757918171 0.00006
NM_024649.5(BBS1):c.669C>T (p.Thr223=) rs375121390 0.00006
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_024649.5(BBS1):c.858C>T (p.Ile286=) rs746775716 0.00006
NM_024649.5(BBS1):c.951+7C>A rs780784789 0.00006
NM_024685.4(BBS10):c.1188T>C (p.Ser396=) rs143903199 0.00006
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024753.5(TTC21B):c.1047C>T (p.Thr349=) rs778117964 0.00006
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2007T>C (p.Asp669=) rs138449110 0.00006
NM_024753.5(TTC21B):c.2054C>T (p.Pro685Leu) rs200930612 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.3345T>C (p.Thr1115=) rs376866058 0.00006
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=) rs769763960 0.00006
NM_024809.5(TCTN2):c.764+19G>A rs371865300 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.1712-14T>A rs765835575 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.5012+15T>C rs538803349 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6522+7T>G rs754878322 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025132.4(WDR19):c.1777+12C>T rs764907062 0.00006
NM_025132.4(WDR19):c.2274T>C (p.His758=) rs369553528 0.00006
NM_025132.4(WDR19):c.3917+15C>T rs377597948 0.00006
NM_025132.4(WDR19):c.604-5_604-4del rs747438345 0.00006
NM_025132.4(WDR19):c.765G>C (p.Val255=) rs750446561 0.00006
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.2128C>T (p.Leu710=) rs762391617 0.00006
NM_031885.5(BBS2):c.534+17A>T rs372085811 0.00006
NM_031924.8(RSPH3):c.1207G>A (p.Asp403Asn) rs140821356 0.00006
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=) rs749282837 0.00006
NM_033028.5(BBS4):c.1107-7G>A rs766664389 0.00006
NM_033028.5(BBS4):c.639A>G (p.Leu213=) rs149663241 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_033124.5(CCDC65):c.808-14C>T rs375006854 0.00006
NM_052844.4(DYNC2I2):c.1167C>T (p.Ser389=) rs374599444 0.00006
NM_052844.4(DYNC2I2):c.436-11C>T rs750826296 0.00006
NM_080860.4(RSPH1):c.231C>T (p.His77=) rs373561308 0.00006
NM_080860.4(RSPH1):c.390C>T (p.Tyr130=) rs529633380 0.00006
NM_080860.4(RSPH1):c.447G>A (p.Thr149=) rs200870072 0.00006
NM_080860.4(RSPH1):c.483C>A (p.Gly161=) rs371312378 0.00006
NM_080860.4(RSPH1):c.55-8T>C rs368421971 0.00006
NM_145038.5(DRC1):c.1509+17G>A rs377178663 0.00006
NM_145038.5(DRC1):c.330C>T (p.Val110=) rs146060843 0.00006
NM_145038.5(DRC1):c.655C>T (p.Arg219Cys) rs577516330 0.00006
NM_145038.5(DRC1):c.679-4G>A rs762632039 0.00006
NM_145045.5(ODAD3):c.1115A>T (p.His372Leu) rs200773510 0.00006
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337 0.00006
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153704.6(TMEM67):c.1961-19A>G rs996724179 0.00006
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.279T>C (p.Pro93=) rs199900812 0.00006
NM_153704.6(TMEM67):c.510C>T (p.Cys170=) rs754191151 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_153704.6(TMEM67):c.870-17G>C rs554004174 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1890+19G>A rs779382577 0.00006
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn) rs186287554 0.00006
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) rs142601761 0.00006
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.174A>G (p.Lys58=) rs148812031 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.2521+16A>G rs781066901 0.00006
NM_198525.3(KIF7):c.1155C>A (p.Ile385=) rs921215892 0.00006
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.1560+8G>A rs373449762 0.00006
NM_198525.3(KIF7):c.222C>T (p.Cys74=) rs527453026 0.00006
NM_198525.3(KIF7):c.2286C>A (p.Gly762=) rs779180324 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.2593-7C>T rs548973054 0.00006
NM_198525.3(KIF7):c.288G>A (p.Thr96=) rs777317164 0.00006
NM_198525.3(KIF7):c.2913C>T (p.Ile971=) rs985336033 0.00006
NM_198525.3(KIF7):c.519C>T (p.Arg173=) rs761188101 0.00006
NM_198525.3(KIF7):c.530-5C>T rs991582441 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.666C>T (p.Thr222=) rs779111299 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001034853.2(RPGR):c.1131C>T (p.Phe377=) rs17852968 0.00005
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met) rs148334278 0.00005
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=) rs199664343 0.00005
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) rs199529768 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001134831.2(AHI1):c.1566A>G (p.Pro522=) rs765975049 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001134831.2(AHI1):c.2374-12T>A rs557341849 0.00005
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=) rs540346120 0.00005
NM_001206927.2(DNAH8):c.11862C>T (p.Ile3954=) rs147504887 0.00005
NM_001206927.2(DNAH8):c.1461C>T (p.His487=) rs543346545 0.00005
NM_001206927.2(DNAH8):c.2652A>C (p.Pro884=) rs750208062 0.00005
NM_001206927.2(DNAH8):c.7237+16C>T rs748581206 0.00005
NM_001206927.2(DNAH8):c.7584C>T (p.Pro2528=) rs748939836 0.00005
NM_001206927.2(DNAH8):c.9963+15A>T rs376789490 0.00005
NM_001256714.1(DNAAF3):c.24G>C (p.Ser8=) rs574117710 0.00005
NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=) rs755385476 0.00005
NM_001256715.2(DNAAF3):c.426C>G (p.Pro142=) rs981566868 0.00005
NM_001256715.2(DNAAF3):c.664-9C>T rs763786288 0.00005
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=) rs748250611 0.00005
NM_001277115.2(DNAH11):c.2043A>G (p.Gln681=) rs375927648 0.00005
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=) rs368872150 0.00005
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg) rs371049362 0.00005
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=) rs202012891 0.00005
NM_001277115.2(DNAH11):c.699G>A (p.Pro233=) rs373971291 0.00005
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=) rs774129338 0.00005
NM_001277115.2(DNAH11):c.9017C>T (p.Thr3006Met) rs537395849 0.00005
NM_001277115.2(DNAH11):c.9039G>A (p.Ala3013=) rs373342289 0.00005
NM_001277115.2(DNAH11):c.9346C>T (p.Leu3116=) rs201171938 0.00005
NM_001277115.2(DNAH11):c.9993T>G (p.Thr3331=) rs747513916 0.00005
NM_001329943.3(KIAA0586):c.411-1495T>C rs1364313825 0.00005
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) rs200906427 0.00005
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) rs762154780 0.00005
NM_001364171.2(ODAD1):c.1842G>A (p.Thr614=) rs368560284 0.00005
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met) rs137875815 0.00005
NM_001369.3(DNAH5):c.10437A>G (p.Ala3479=) rs139881808 0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 0.00005
NM_001369.3(DNAH5):c.11571-4C>T rs758068700 0.00005
NM_001369.3(DNAH5):c.11577C>G (p.Val3859=) rs756829670 0.00005
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=) rs140220517 0.00005
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.192+19C>T rs374317093 0.00005
NM_001369.3(DNAH5):c.192+9C>T rs200327229 0.00005
NM_001369.3(DNAH5):c.2079G>A (p.Glu693=) rs565939224 0.00005
NM_001369.3(DNAH5):c.207T>A (p.Asp69Glu) rs777266031 0.00005
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=) rs773547505 0.00005
NM_001369.3(DNAH5):c.2563C>T (p.Leu855Phe) rs373146819 0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) rs376453450 0.00005
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn) rs140471516 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00005
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) rs144308691 0.00005
NM_001369.3(DNAH5):c.6688-9T>C rs372522358 0.00005
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val) rs761877376 0.00005
NM_001369.3(DNAH5):c.7374C>T (p.Ser2458=) rs1342031986 0.00005
NM_001369.3(DNAH5):c.7888-6T>C rs763546052 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001369.3(DNAH5):c.9171A>G (p.Lys3057=) rs543154987 0.00005
NM_001375405.1(CEP120):c.2103+7A>G rs764744920 0.00005
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534 0.00005
NM_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His) rs201699865 0.00005
NM_001377.3(DYNC2H1):c.1935A>T (p.Ala645=) rs368061315 0.00005
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser) rs762604608 0.00005
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=) rs541122374 0.00005
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=) rs772143925 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241 0.00005
NM_001378454.1(ALMS1):c.8811T>C (p.Tyr2937=) rs541559170 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_001378615.1(CC2D2A):c.1193G>A (p.Gly398Glu) rs200429882 0.00005
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln) rs780924556 0.00005
NM_001378615.1(CC2D2A):c.1360-11G>A rs181633376 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=) rs182119485 0.00005
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) rs766400907 0.00005
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala) rs760099299 0.00005
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=) rs773819961 0.00005
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) rs372380629 0.00005
NM_001481.3(GAS8):c.873C>T (p.Ser291=) rs762702389 0.00005
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln) rs147104722 0.00005
NM_003611.3(OFD1):c.2010A>G (p.Pro670=) rs772960582 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.498T>G (p.Ser166=) rs762183907 0.00005
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00005
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=) rs376177487 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.522A>G (p.Glu174=) rs534713601 0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=) rs146015192 0.00005
NM_012144.4(DNAI1):c.918C>T (p.Asp306=) rs772207177 0.00005
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) rs201033016 0.00005
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) rs755959856 0.00005
NM_014714.4(IFT140):c.1896T>A (p.Thr632=) rs141276689 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2544C>T (p.Arg848=) rs371008462 0.00005
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=) rs767092157 0.00005
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=) rs139078766 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu) rs555799779 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.634+12T>C rs747805287 0.00005
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) rs373258796 0.00005
NM_014956.5(CEP164):c.1410-12C>T rs779681613 0.00005
NM_014956.5(CEP164):c.237C>T (p.Asn79=) rs149281923 0.00005
NM_015102.5(NPHP4):c.1504-12C>G rs753092403 0.00005
NM_015102.5(NPHP4):c.1763+14C>G rs752748198 0.00005
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.883-7C>A rs372349467 0.00005
NM_015512.5(DNAH1):c.11601C>T (p.Ile3867=) rs369752216 0.00005
NM_015512.5(DNAH1):c.12441+14C>T rs201618429 0.00005
NM_015512.5(DNAH1):c.4833C>T (p.Leu1611=) rs373943792 0.00005
NM_015512.5(DNAH1):c.6G>A (p.Glu2=) rs747132091 0.00005
NM_015631.6(TCTN3):c.1452+17A>G rs376162804 0.00005
NM_015631.6(TCTN3):c.1591-4G>A rs376757601 0.00005
NM_015631.6(TCTN3):c.888+10T>C rs746513472 0.00005
NM_015662.3(IFT172):c.1168-7G>A rs373380537 0.00005
NM_015662.3(IFT172):c.1678A>G (p.Met560Val) rs763516858 0.00005
NM_015662.3(IFT172):c.2670C>T (p.Ala890=) rs374065796 0.00005
NM_015910.7(WDPCP):c.1050C>T (p.Asp350=) rs1188535327 0.00005
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.1915+11A>G rs375424071 0.00005
NM_015910.7(WDPCP):c.2078+19A>C rs371652879 0.00005
NM_015910.7(WDPCP):c.208+11T>C rs201607698 0.00005
NM_015910.7(WDPCP):c.254-16_254-15del rs746129466 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_016616.5(NME8):c.1467T>C (p.Thr489=) rs141799366 0.00005
NM_016616.5(NME8):c.1710C>T (p.Asn570=) rs190521566 0.00005
NM_016616.5(NME8):c.271-4A>G rs368506712 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017802.4(DNAAF5):c.1950C>G (p.Leu650=) rs755182384 0.00005
NM_017802.4(DNAAF5):c.2239+8A>G rs202087864 0.00005
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=) rs772910548 0.00005
NM_017802.4(DNAAF5):c.732C>T (p.Asp244=) rs751760178 0.00005
NM_017950.4(CCDC40):c.1159+9A>G rs754557686 0.00005
NM_017950.4(CCDC40):c.1806+9G>A rs766278175 0.00005
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.1989+19G>A rs768348648 0.00005
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) rs573028412 0.00005
NM_018051.5(DYNC2I1):c.2154C>T (p.His718=) rs368500706 0.00005
NM_018051.5(DYNC2I1):c.582C>T (p.Tyr194=) rs368847195 0.00005
NM_018076.5(ODAD2):c.12T>G (p.Ala4=) rs757096123 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_019892.6(INPP5E):c.1035-9C>T rs750624613 0.00005
NM_019892.6(INPP5E):c.1387+18G>A rs758023235 0.00005
NM_019892.6(INPP5E):c.1549+11G>T rs762345319 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2659-19G>A rs749563049 0.00005
NM_020800.3(IFT80):c.1076+8T>C rs778101637 0.00005
NM_020800.3(IFT80):c.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.2286G>A (p.Glu762=) rs774118255 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_023036.6(DNAI2):c.865-11C>T rs774483437 0.00005
NM_024649.5(BBS1):c.1035C>T (p.Ala345=) rs779935398 0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.22-6A>C rs377459815 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=) rs144151561 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.2967A>G (p.Arg989=) rs371556205 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_031885.5(BBS2):c.1152C>T (p.His384=) rs774493134 0.00005
NM_031885.5(BBS2):c.1798-11A>G rs374344685 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_033028.5(BBS4):c.1158C>T (p.Gly386=) rs1057402744 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.587+7G>C rs755929085 0.00005
NM_033028.5(BBS4):c.643-20_643-19del rs776030864 0.00005
NM_033028.5(BBS4):c.663A>G (p.Ala221=) rs574868161 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_033028.5(BBS4):c.864+20C>G rs753099644 0.00005
NM_052844.4(DYNC2I2):c.393G>A (p.Ala131=) rs760786107 0.00005
NM_052844.4(DYNC2I2):c.9C>T (p.Thr3=) rs564750548 0.00005
NM_080860.4(RSPH1):c.651G>A (p.Leu217=) rs747395137 0.00005
NM_144596.4(TTC8):c.171G>A (p.Ala57=) rs776886643 0.00005
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939 0.00005
NM_145038.5(DRC1):c.15G>A (p.Gly5=) rs746939507 0.00005
NM_145038.5(DRC1):c.2167-5T>C rs560788801 0.00005
NM_145038.5(DRC1):c.57C>T (p.Ser19=) rs141160156 0.00005
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153704.6(TMEM67):c.1860+14G>T rs369727716 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_176824.3(BBS7):c.654T>C (p.Leu218=) rs377333596 0.00005
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) rs368651695 0.00005
NM_178452.6(DNAAF1):c.1528+12G>A rs765784723 0.00005
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00005
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=) rs764010439 0.00005
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=) rs779266990 0.00005
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=) rs777802977 0.00005
NM_181426.2(CCDC39):c.474C>T (p.Leu158=) rs777326219 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_198525.3(KIF7):c.1923-20C>A rs201211373 0.00005
NM_198525.3(KIF7):c.2592+9C>T rs933104100 0.00005
NM_198525.3(KIF7):c.2967C>T (p.Ser989=) rs749374011 0.00005
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) rs148749994 0.00005
NM_198525.3(KIF7):c.849C>G (p.Gly283=) rs1394357304 0.00005
NM_000328.3(RPGR):c.2301G>A (p.Glu767=) rs749909061 0.00004
NM_000328.3(RPGR):c.2445A>G (p.Leu815=) rs771798016 0.00004
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu) rs765979499 0.00004
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074 0.00004
NM_001082538.3(TCTN1):c.473-20_473-19del rs762957362 0.00004
NM_001082538.3(TCTN1):c.822+18G>C rs367638462 0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=) rs759380913 0.00004
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=) rs777373658 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001134831.2(AHI1):c.1281T>C (p.Asn427=) rs759903519 0.00004
NM_001134831.2(AHI1):c.2374-16T>C rs775777106 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.2634A>G (p.Val878=) rs1036098372 0.00004
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala) rs774471595 0.00004
NM_001134831.2(AHI1):c.3192G>A (p.Ala1064=) rs371494868 0.00004
NM_001134831.2(AHI1):c.3222C>A (p.Arg1074=) rs61755967 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001134831.2(AHI1):c.396G>A (p.Thr132=) rs752922775 0.00004
NM_001134831.2(AHI1):c.609G>A (p.Glu203=) rs748009598 0.00004
NM_001134831.2(AHI1):c.7A>G (p.Thr3Ala) rs1380181596 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001173990.3(TMEM216):c.276C>T (p.Ser92=) rs758830455 0.00004
NM_001174150.2(ARL13B):c.441A>G (p.Leu147=) rs148354827 0.00004
NM_001174150.2(ARL13B):c.690-10C>T rs373752093 0.00004
NM_001174150.2(ARL13B):c.690-6C>T rs775646763 0.00004
NM_001174150.2(ARL13B):c.744G>A (p.Glu248=) rs760160787 0.00004
NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=) rs889420772 0.00004
NM_001190787.3(MCIDAS):c.57C>T (p.Pro19=) rs1417940710 0.00004
NM_001190787.3(MCIDAS):c.717+13C>T rs557504350 0.00004
NM_001190787.3(MCIDAS):c.84G>T (p.Arg28=) rs898579382 0.00004
NM_001199397.3(NEK1):c.1021-8T>C rs748957277 0.00004
NM_001199397.3(NEK1):c.1728G>A (p.Lys576=) rs776189543 0.00004
NM_001199397.3(NEK1):c.3129T>C (p.Phe1043=) rs764822486 0.00004
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=) rs370713361 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
NM_001206927.2(DNAH8):c.10980A>G (p.Leu3660=) rs541761822 0.00004
NM_001206927.2(DNAH8):c.11577T>C (p.Asp3859=) rs369713875 0.00004
NM_001206927.2(DNAH8):c.11598A>C (p.Val3866=) rs140415898 0.00004
NM_001206927.2(DNAH8):c.11676C>T (p.Asn3892=) rs764519856 0.00004
NM_001206927.2(DNAH8):c.12651T>C (p.His4217=) rs768250990 0.00004
NM_001206927.2(DNAH8):c.13473T>C (p.Ser4491=) rs772278022 0.00004
NM_001206927.2(DNAH8):c.14107T>C (p.Leu4703=) rs143828709 0.00004
NM_001206927.2(DNAH8):c.1650A>G (p.Ala550=) rs376117274 0.00004
NM_001206927.2(DNAH8):c.2454C>T (p.Phe818=) rs761076754 0.00004
NM_001206927.2(DNAH8):c.375A>G (p.Thr125=) rs780859367 0.00004
NM_001206927.2(DNAH8):c.3858A>G (p.Lys1286=) rs1038774938 0.00004
NM_001206927.2(DNAH8):c.423A>G (p.Arg141=) rs766979092 0.00004
NM_001206927.2(DNAH8):c.4374C>T (p.Phe1458=) rs201114881 0.00004
NM_001206927.2(DNAH8):c.5046-15G>A rs764312738 0.00004
NM_001206927.2(DNAH8):c.5469G>T (p.Pro1823=) rs61757626 0.00004
NM_001206927.2(DNAH8):c.5734-13G>T rs779630203 0.00004
NM_001206927.2(DNAH8):c.6492A>G (p.Leu2164=) rs150999554 0.00004
NM_001206927.2(DNAH8):c.6921C>T (p.Asn2307=) rs536642412 0.00004
NM_001206927.2(DNAH8):c.6991-20T>C rs370317194 0.00004
NM_001206927.2(DNAH8):c.9123C>T (p.Ser3041=) rs761783722 0.00004
NM_001206927.2(DNAH8):c.9741-18T>C rs752465939 0.00004
NM_001256715.2(DNAAF3):c.-15G>C rs541817053 0.00004
NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=) rs368469150 0.00004
NM_001256715.2(DNAAF3):c.1238+9G>T rs375688483 0.00004
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=) rs192924578 0.00004
NM_001256715.2(DNAAF3):c.790-9C>T rs374186955 0.00004
NM_001256715.2(DNAAF3):c.921G>A (p.Gly307=) rs775495587 0.00004
NM_001277115.2(DNAH11):c.10332+8C>G rs761592208 0.00004
NM_001277115.2(DNAH11):c.10398C>T (p.Ala3466=) rs748648201 0.00004
NM_001277115.2(DNAH11):c.10791A>G (p.Gln3597=) rs1050560432 0.00004
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=) rs766635238 0.00004
NM_001277115.2(DNAH11):c.11229G>A (p.Ala3743=) rs369957863 0.00004
NM_001277115.2(DNAH11):c.11266C>T (p.Arg3756Cys) rs766141716 0.00004
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His) rs554657293 0.00004
NM_001277115.2(DNAH11):c.11670C>T (p.Asp3890=) rs548184198 0.00004
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly) rs545970834 0.00004
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser) rs551038953 0.00004
NM_001277115.2(DNAH11):c.2367G>A (p.Leu789=) rs779115290 0.00004
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=) rs535761458 0.00004
NM_001277115.2(DNAH11):c.2772G>A (p.Met924Ile) rs766050153 0.00004
NM_001277115.2(DNAH11):c.3739A>C (p.Ile1247Leu) rs569089902 0.00004
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu) rs762090852 0.00004
NM_001277115.2(DNAH11):c.4890C>T (p.Phe1630=) rs569494115 0.00004
NM_001277115.2(DNAH11):c.5295C>T (p.Tyr1765=) rs377687532 0.00004
NM_001277115.2(DNAH11):c.5850C>T (p.Ile1950=) rs377208329 0.00004
NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln) rs370052217 0.00004
NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg) rs184241449 0.00004
NM_001277115.2(DNAH11):c.6351C>T (p.Val2117=) rs535218781 0.00004
NM_001277115.2(DNAH11):c.6683+16_6683+18del rs750498878 0.00004
NM_001277115.2(DNAH11):c.6983+9_6983+10insCCACGGAGTGGAA rs746839743 0.00004
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala) rs139912794 0.00004
NM_001277115.2(DNAH11):c.8778T>G (p.Ile2926Met) rs781151745 0.00004
NM_001277115.2(DNAH11):c.8797+3G>A rs772995648 0.00004
NM_001278293.3(ARL6):c.147A>T (p.Pro49=) rs570616502 0.00004
NM_001278293.3(ARL6):c.33T>A (p.Leu11=) rs753656245 0.00004
NM_001278293.3(ARL6):c.536-4T>C rs201939836 0.00004
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) rs750393862 0.00004
NM_001329943.3(KIAA0586):c.1885-11T>C rs1344938086 0.00004
NM_001329943.3(KIAA0586):c.271-11A>G rs752733321 0.00004
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) rs369590767 0.00004
NM_001329943.3(KIAA0586):c.3528-20A>G rs759897107 0.00004
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.3858+10G>A rs1023641988 0.00004
NM_001329943.3(KIAA0586):c.4430-6dup rs755622220 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) rs369143869 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001364171.2(ODAD1):c.1026C>T (p.Asn342=) rs760712197 0.00004
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn) rs201757586 0.00004
NM_001364171.2(ODAD1):c.1635C>T (p.Ala545=) rs758221101 0.00004
NM_001364171.2(ODAD1):c.405C>G (p.Val135=) rs1173208373 0.00004
NM_001364171.2(ODAD1):c.711G>A (p.Glu237=) rs371432008 0.00004
NM_001364171.2(ODAD1):c.819G>A (p.Pro273=) rs148382103 0.00004
NM_001369.3(DNAH5):c.10074T>C (p.Thr3358=) rs375557733 0.00004
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys) rs147882360 0.00004
NM_001369.3(DNAH5):c.10368G>A (p.Ala3456=) rs767316134 0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) rs200012281 0.00004
NM_001369.3(DNAH5):c.10427T>G (p.Leu3476Arg) rs746513280 0.00004
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp) rs747041428 0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.10960G>C (p.Glu3654Gln) rs138486840 0.00004
NM_001369.3(DNAH5):c.1146T>C (p.Ser382=) rs747174844 0.00004
NM_001369.3(DNAH5):c.12147G>C (p.Leu4049=) rs893230187 0.00004
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=) rs181510043 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.12499+9A>T rs756789950 0.00004
NM_001369.3(DNAH5):c.12522C>T (p.Asp4174=) rs376439430 0.00004
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00004
NM_001369.3(DNAH5):c.12705+10C>T rs758172356 0.00004
NM_001369.3(DNAH5):c.12910-6G>A rs759148086 0.00004
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His) rs373749995 0.00004
NM_001369.3(DNAH5):c.13449G>A (p.Thr4483=) rs768159386 0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941 0.00004
NM_001369.3(DNAH5):c.1416A>G (p.Lys472=) rs748792501 0.00004
NM_001369.3(DNAH5):c.1714T>C (p.Leu572=) rs765545482 0.00004
NM_001369.3(DNAH5):c.1731-7A>T rs1224957158 0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His) rs185855852 0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743 0.00004
NM_001369.3(DNAH5):c.2622A>G (p.Ser874=) rs1450777548 0.00004
NM_001369.3(DNAH5):c.3086A>T (p.Asp1029Val) rs201338727 0.00004
NM_001369.3(DNAH5):c.3321T>C (p.Tyr1107=) rs1224429992 0.00004
NM_001369.3(DNAH5):c.3405T>C (p.Ile1135=) rs560272549 0.00004
NM_001369.3(DNAH5):c.3612C>T (p.Phe1204=) rs752941536 0.00004
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys) rs781667158 0.00004
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln) rs779980906 0.00004
NM_001369.3(DNAH5):c.4179C>T (p.Gly1393=) rs904428157 0.00004
NM_001369.3(DNAH5):c.438+7G>A rs906212553 0.00004
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) rs763709302 0.00004
NM_001369.3(DNAH5):c.4779A>G (p.Gly1593=) rs766342038 0.00004
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=) rs748438142 0.00004
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu) rs749078502 0.00004
NM_001369.3(DNAH5):c.5157C>T (p.Phe1719=) rs749688197 0.00004
NM_001369.3(DNAH5):c.5256C>G (p.Val1752=) rs375664100 0.00004
NM_001369.3(DNAH5):c.558C>T (p.Leu186=) rs145895917 0.00004
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00004
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455 0.00004
NM_001369.3(DNAH5):c.6885G>A (p.Ala2295=) rs762437869 0.00004
NM_001369.3(DNAH5):c.6957G>A (p.Thr2319=) rs202042219 0.00004
NM_001369.3(DNAH5):c.6989-14G>T rs368353964 0.00004
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) rs373885245 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln) rs371695477 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.8296T>C (p.Leu2766=) rs200554369 0.00004
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00004
NM_001369.3(DNAH5):c.8815G>A (p.Val2939Ile) rs566080915 0.00004
NM_001369.3(DNAH5):c.888G>A (p.Lys296=) rs758680247 0.00004
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe) rs368476008 0.00004
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe) rs375063617 0.00004
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566 0.00004
NM_001369.3(DNAH5):c.9374-8C>G rs770720842 0.00004
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) rs770064361 0.00004
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00004
NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=) rs377032791 0.00004
NM_001375405.1(CEP120):c.2104-13T>A rs779904226 0.00004
NM_001375405.1(CEP120):c.2358+18T>C rs201232590 0.00004
NM_001375405.1(CEP120):c.2359-8T>A rs570367630 0.00004
NM_001375405.1(CEP120):c.2799T>C (p.His933=) rs775237242 0.00004
NM_001375405.1(CEP120):c.2889C>T (p.His963=) rs142459804 0.00004
NM_001375405.1(CEP120):c.963T>C (p.Leu321=) rs201148622 0.00004
NM_001377.3(DYNC2H1):c.10043-15del rs369851711 0.00004
NM_001377.3(DYNC2H1):c.10143G>A (p.Pro3381=) rs370992556 0.00004
NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=) rs886043866 0.00004
NM_001377.3(DYNC2H1):c.10813-9T>G rs754276021 0.00004
NM_001377.3(DYNC2H1):c.10832G>A (p.Arg3611His) rs751215142 0.00004
NM_001377.3(DYNC2H1):c.11822A>G (p.Gln3941Arg) rs200583107 0.00004
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550 0.00004
NM_001377.3(DYNC2H1):c.2421C>T (p.Ile807=) rs763470063 0.00004
NM_001377.3(DYNC2H1):c.6696C>T (p.Asp2232=) rs747015090 0.00004
NM_001377.3(DYNC2H1):c.7308G>A (p.Glu2436=) rs755810323 0.00004
NM_001377.3(DYNC2H1):c.8307A>G (p.Thr2769=) rs1429708573 0.00004
NM_001377.3(DYNC2H1):c.9710-11C>T rs751333123 0.00004
NM_001377.3(DYNC2H1):c.999+7A>G rs766672853 0.00004
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=) rs571782143 0.00004
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=) rs998039859 0.00004
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=) rs764462322 0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=) rs776912137 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=) rs762630256 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=) rs370372529 0.00004
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=) rs547563359 0.00004
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=) rs1362041238 0.00004
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=) rs541827475 0.00004
NM_001378454.1(ALMS1):c.450+11T>C rs763724672 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861 0.00004
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=) rs199967386 0.00004
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211 0.00004
NM_001378454.1(ALMS1):c.7464A>G (p.Gln2488=) rs765766155 0.00004
NM_001378454.1(ALMS1):c.7541-14T>C rs554746330 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943 0.00004
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=) rs759377981 0.00004
NM_001378454.1(ALMS1):c.9782-19C>A rs777706370 0.00004
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00004
NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=) rs377448964 0.00004
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val) rs751646059 0.00004
NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=) rs373277928 0.00004
NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro) rs777510836 0.00004
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala) rs766282869 0.00004
NM_001378615.1(CC2D2A):c.2339-15C>G rs763052758 0.00004
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=) rs766042434 0.00004
NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr) rs369305472 0.00004
NM_001378615.1(CC2D2A):c.2626-11G>A rs756555172 0.00004
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln) rs532411276 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601 0.00004
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=) rs766991790 0.00004
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=) rs570078140 0.00004
NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=) rs373762896 0.00004
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln) rs745699870 0.00004
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) rs755838311 0.00004
NM_001382391.1(CSPP1):c.1619-4T>C rs774722380 0.00004
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) rs754822898 0.00004
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) rs201940935 0.00004
NM_001382391.1(CSPP1):c.2128+16T>G rs770694705 0.00004
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) rs754377738 0.00004
NM_001382391.1(CSPP1):c.2829-6C>A rs202184488 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) rs772082205 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7589-12A>C rs767934439 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001481.3(GAS8):c.1118C>T (p.Ala373Val) rs185608121 0.00004
NM_001481.3(GAS8):c.1128C>T (p.Ala376=) rs149280611 0.00004
NM_001481.3(GAS8):c.1300C>T (p.Leu434=) rs747703015 0.00004
NM_001481.3(GAS8):c.1335C>T (p.Phe445=) rs537767758 0.00004
NM_001481.3(GAS8):c.900C>T (p.Tyr300=) rs140624161 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_003114.5(SPAG1):c.1713G>A (p.Leu571=) rs778146484 0.00004
NM_003114.5(SPAG1):c.2457G>A (p.Arg819=) rs186813256 0.00004
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) rs1374240720 0.00004
NM_003611.3(OFD1):c.1622A>T (p.Asp541Val) rs369907952 0.00004
NM_003611.3(OFD1):c.2523C>T (p.Gly841=) rs757258869 0.00004
NM_003611.3(OFD1):c.2757+14C>T rs755443772 0.00004
NM_003611.3(OFD1):c.2991C>T (p.Val997=) rs373088434 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_006642.5(SDCCAG8):c.1617-16C>G rs765508271 0.00004
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=) rs1007802384 0.00004
NM_006642.5(SDCCAG8):c.1986-6C>T rs373079768 0.00004
NM_006642.5(SDCCAG8):c.307-10T>A rs371148493 0.00004
NM_006642.5(SDCCAG8):c.963C>T (p.Ser321=) rs751551796 0.00004
NM_012144.4(DNAI1):c.1002C>T (p.Ser334=) rs754233819 0.00004
NM_012144.4(DNAI1):c.1064-9C>T rs764425574 0.00004
NM_012144.4(DNAI1):c.1152C>T (p.Ser384=) rs145549023 0.00004
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1818+13G>A rs369757755 0.00004
NM_012144.4(DNAI1):c.501+10A>C rs765805502 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_012144.4(DNAI1):c.924T>C (p.Ala308=) rs377594689 0.00004
NM_012144.4(DNAI1):c.963G>A (p.Pro321=) rs762694599 0.00004
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) rs776448126 0.00004
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=) rs201083322 0.00004
NM_012210.4(TRIM32):c.201T>C (p.Ile67=) rs780799984 0.00004
NM_012210.4(TRIM32):c.339G>C (p.Arg113=) rs150477945 0.00004
NM_012210.4(TRIM32):c.501G>A (p.Lys167=) rs200085883 0.00004
NM_012472.6(DNAAF11):c.250T>C (p.Leu84=) rs750250466 0.00004
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) rs199705053 0.00004
NM_012472.6(DNAAF11):c.831A>G (p.Lys277=) rs757347921 0.00004
NM_012472.6(DNAAF11):c.996C>A (p.Ile332=) rs750858514 0.00004
NM_014704.4(CEP104):c.2658G>A (p.Gln886=) rs202022682 0.00004
NM_014704.4(CEP104):c.2662+10A>T rs552644535 0.00004
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly) rs755406055 0.00004
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) rs777539406 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00004
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) rs199881467 0.00004
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) rs139385840 0.00004
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1740C>T (p.Ser580=) rs1314445049 0.00004
NM_014714.4(IFT140):c.174C>T (p.Val58=) rs769612994 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00004
NM_014714.4(IFT140):c.2068-12T>G rs377366035 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2505G>A (p.Ala835=) rs147300509 0.00004
NM_014714.4(IFT140):c.2562G>A (p.Thr854=) rs750695023 0.00004
NM_014714.4(IFT140):c.2577+13C>T rs775827558 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.3454-18A>G rs373222244 0.00004
NM_014714.4(IFT140):c.3454-6T>C rs765039853 0.00004
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.708G>A (p.Leu236=) rs200076064 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.811-7C>T rs751897595 0.00004
NM_014956.5(CEP164):c.1158G>A (p.Leu386=) rs199723361 0.00004
NM_014956.5(CEP164):c.1380G>A (p.Gln460=) rs559473249 0.00004
NM_014956.5(CEP164):c.1431C>T (p.His477=) rs539441637 0.00004
NM_014956.5(CEP164):c.1506C>T (p.Pro502=) rs369224299 0.00004
NM_014956.5(CEP164):c.150G>A (p.Ala50=) rs367761983 0.00004
NM_014956.5(CEP164):c.2086C>T (p.Leu696=) rs934960506 0.00004
NM_014956.5(CEP164):c.2340A>G (p.Ser780=) rs908435695 0.00004
NM_014956.5(CEP164):c.2379G>A (p.Gln793=) rs190692742 0.00004
NM_014956.5(CEP164):c.2494-9C>T rs373873905 0.00004
NM_014956.5(CEP164):c.2517G>A (p.Lys839=) rs760170526 0.00004
NM_014956.5(CEP164):c.2853C>T (p.Thr951=) rs140641176 0.00004
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=) rs368609037 0.00004
NM_014956.5(CEP164):c.3786C>T (p.His1262=) rs373372717 0.00004
NM_014956.5(CEP164):c.4096+15G>A rs200690593 0.00004
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His) rs74653460 0.00004
NM_014956.5(CEP164):c.4287-11C>T rs199682751 0.00004
NM_014956.5(CEP164):c.4323T>C (p.Thr1441=) rs992995160 0.00004
NM_014956.5(CEP164):c.688-8del rs1304697768 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.3817-11C>T rs774350462 0.00004
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=) rs763002637 0.00004
NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=) rs776657788 0.00004
NM_015102.5(NPHP4):c.828C>T (p.Asp276=) rs765113652 0.00004
NM_015272.5(RPGRIP1L):c.1029+12A>G rs374781718 0.00004
NM_015272.5(RPGRIP1L):c.1029+19T>C rs370612492 0.00004
NM_015272.5(RPGRIP1L):c.1104-13G>A rs775179294 0.00004
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) rs376335724 0.00004
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=) rs766752672 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_015272.5(RPGRIP1L):c.1699+11T>C rs189805541 0.00004
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=) rs762755851 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 0.00004
NM_015272.5(RPGRIP1L):c.3061-18G>A rs1231406468 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=) rs773361667 0.00004
NM_015512.5(DNAH1):c.10344C>T (p.Pro3448=) rs200295282 0.00004
NM_015512.5(DNAH1):c.10627-4C>T rs762307252 0.00004
NM_015512.5(DNAH1):c.114G>A (p.Pro38=) rs758216516 0.00004
NM_015512.5(DNAH1):c.11784C>T (p.Leu3928=) rs1488797519 0.00004
NM_015512.5(DNAH1):c.1881C>T (p.Ser627=) rs193290403 0.00004
NM_015512.5(DNAH1):c.1911C>T (p.Thr637=) rs759143545 0.00004
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004
NM_015512.5(DNAH1):c.197C>T (p.Pro66Leu) rs182751106 0.00004
NM_015512.5(DNAH1):c.2313G>A (p.Thr771=) rs1334735125 0.00004
NM_015512.5(DNAH1):c.2362C>T (p.Arg788Trp) rs766117149 0.00004
NM_015512.5(DNAH1):c.3093T>C (p.Ser1031=) rs755508561 0.00004
NM_015512.5(DNAH1):c.3481-9C>T rs774106594 0.00004
NM_015512.5(DNAH1):c.3675C>T (p.Asn1225=) rs183711502 0.00004
NM_015512.5(DNAH1):c.4375A>C (p.Arg1459=) rs376104739 0.00004
NM_015512.5(DNAH1):c.5095-9G>T rs761395939 0.00004
NM_015512.5(DNAH1):c.5571C>T (p.Gly1857=) rs764678460 0.00004
NM_015512.5(DNAH1):c.6418-6C>T rs201832370 0.00004
NM_015512.5(DNAH1):c.732A>G (p.Pro244=) rs374941590 0.00004
NM_015512.5(DNAH1):c.7809C>T (p.Ala2603=) rs368368003 0.00004
NM_015512.5(DNAH1):c.8514+10G>C rs545437483 0.00004
NM_015512.5(DNAH1):c.9408G>A (p.Thr3136=) rs774657348 0.00004
NM_015512.5(DNAH1):c.9660C>T (p.Asn3220=) rs183262663 0.00004
NM_015631.6(TCTN3):c.1591-12T>C rs373643964 0.00004
NM_015631.6(TCTN3):c.381-19C>G rs759096352 0.00004
NM_015662.3(IFT172):c.1326-17C>T rs969211942 0.00004
NM_015662.3(IFT172):c.1524+7A>G rs149896944 0.00004
NM_015662.3(IFT172):c.1791C>T (p.Ile597=) rs747273253 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val) rs370407165 0.00004
NM_015662.3(IFT172):c.2787+10A>G rs199842476 0.00004
NM_015662.3(IFT172):c.318C>T (p.Cys106=) rs772983278 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_015662.3(IFT172):c.4407C>T (p.His1469=) rs761583320 0.00004
NM_015662.3(IFT172):c.4755+11del rs775669156 0.00004
NM_015662.3(IFT172):c.4816-6C>T rs367782557 0.00004
NM_015662.3(IFT172):c.571-10T>C rs753921843 0.00004
NM_015662.3(IFT172):c.861C>T (p.Tyr287=) rs148906663 0.00004
NM_015681.6(B9D1):c.33C>T (p.Leu11=) rs751480715 0.00004
NM_015896.4(ZMYND10):c.79A>G (p.Met27Val) rs587680539 0.00004
NM_015910.7(WDPCP):c.2160C>T (p.Asp720=) rs372727422 0.00004
NM_015910.7(WDPCP):c.276C>T (p.Leu92=) rs759303585 0.00004
NM_015910.7(WDPCP):c.60C>A (p.Ser20=) rs757553495 0.00004
NM_015910.7(WDPCP):c.915C>T (p.Ser305=) rs370372057 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_016616.5(NME8):c.144A>G (p.Leu48=) rs199848335 0.00004
NM_016616.5(NME8):c.57G>A (p.Leu19=) rs752092011 0.00004
NM_016616.5(NME8):c.621+8A>T rs748586004 0.00004
NM_016616.5(NME8):c.633A>G (p.Glu211=) rs200050894 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017777.4(MKS1):c.1273+7G>A rs569463908 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017777.4(MKS1):c.191-6T>G rs748412372 0.00004
NM_017777.4(MKS1):c.261+20C>A rs370117635 0.00004
NM_017777.4(MKS1):c.417+17G>C rs780446139 0.00004
NM_017777.4(MKS1):c.644+10G>A rs544053540 0.00004
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00004
NM_017777.4(MKS1):c.822G>A (p.Pro274=) rs375557871 0.00004
NM_017802.4(DNAAF5):c.1230C>T (p.Thr410=) rs779072395 0.00004
NM_017802.4(DNAAF5):c.129G>A (p.Lys43=) rs1039124490 0.00004
NM_017802.4(DNAAF5):c.1341G>A (p.Thr447=) rs200587511 0.00004
NM_017802.4(DNAAF5):c.1783+8G>A rs758632496 0.00004
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=) rs751078064 0.00004
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=) rs777084727 0.00004
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00004
NM_017802.4(DNAAF5):c.495C>T (p.Asp165=) rs1167742655 0.00004
NM_017802.4(DNAAF5):c.534C>T (p.Pro178=) rs543234628 0.00004
NM_017802.4(DNAAF5):c.678C>T (p.Ala226=) rs563294364 0.00004
NM_017950.4(CCDC40):c.1160-10C>T rs757777653 0.00004
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=) rs560402881 0.00004
NM_017950.4(CCDC40):c.2853G>A (p.Leu951=) rs768280461 0.00004
NM_017950.4(CCDC40):c.29+7C>G rs558574170 0.00004
NM_017950.4(CCDC40):c.3181-15T>C rs376546339 0.00004
NM_017950.4(CCDC40):c.855+4A>G rs138001923 0.00004
NM_017950.4(CCDC40):c.882C>T (p.Ala294=) rs528463057 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_018051.5(DYNC2I1):c.1017G>A (p.Val339=) rs1006424601 0.00004
NM_018051.5(DYNC2I1):c.2205T>C (p.Ser735=) rs201245664 0.00004
NM_018051.5(DYNC2I1):c.2433+19C>T rs759925860 0.00004
NM_018051.5(DYNC2I1):c.2904C>T (p.Ala968=) rs374305328 0.00004
NM_018051.5(DYNC2I1):c.876C>T (p.Ser292=) rs757328480 0.00004
NM_018076.5(ODAD2):c.1266T>C (p.Thr422=) rs531062950 0.00004
NM_018076.5(ODAD2):c.1380T>C (p.Tyr460=) rs771197791 0.00004
NM_018076.5(ODAD2):c.1716G>T (p.Val572=) rs146489459 0.00004
NM_018076.5(ODAD2):c.1791G>A (p.Ser597=) rs779015420 0.00004
NM_018076.5(ODAD2):c.2079C>T (p.Cys693=) rs140338410 0.00004
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=) rs759039864 0.00004
NM_018076.5(ODAD2):c.571T>C (p.Ser191Pro) rs11599060 0.00004
NM_018139.3(DNAAF2):c.1503G>T (p.Thr501=) rs201546624 0.00004
NM_018139.3(DNAAF2):c.2008-10C>T rs747595279 0.00004
NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=) rs755114164 0.00004
NM_018139.3(DNAAF2):c.2475A>G (p.Ala825=) rs151051293 0.00004
NM_018139.3(DNAAF2):c.2490T>C (p.Asn830=) rs774072576 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_019892.6(INPP5E):c.1266G>A (p.Thr422=) rs749680652 0.00004
NM_019892.6(INPP5E):c.1280-10G>A rs780428016 0.00004
NM_019892.6(INPP5E):c.1287C>T (p.Asp429=) rs969546384 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_019892.6(INPP5E):c.1500C>T (p.Asp500=) rs372142221 0.00004
NM_019892.6(INPP5E):c.1626G>A (p.Thr542=) rs150464071 0.00004
NM_019892.6(INPP5E):c.1758T>C (p.Pro586=) rs1222127887 0.00004
NM_019892.6(INPP5E):c.1881G>A (p.Gln627=) rs144720715 0.00004
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521 0.00004
NM_019892.6(INPP5E):c.945G>A (p.Pro315=) rs753567429 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.143-4T>C rs1180620404 0.00004
NM_020779.4(WDR35):c.2592A>G (p.Ala864=) rs750654551 0.00004
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) rs139447814 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020800.3(IFT80):c.1077-8T>C rs184413952 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.1151+14T>C rs549769036 0.00004
NM_020800.3(IFT80):c.1516+17A>G rs375692165 0.00004
NM_020800.3(IFT80):c.1545C>T (p.Asn515=) rs376003348 0.00004
NM_021147.5(CCNO):c.333G>A (p.Ala111=) rs191035273 0.00004
NM_021147.5(CCNO):c.579C>T (p.His193=) rs552011098 0.00004
NM_021147.5(CCNO):c.723G>A (p.Thr241=) rs777719468 0.00004
NM_021147.5(CCNO):c.843C>T (p.Ser281=) rs759691847 0.00004
NM_023036.6(DNAI2):c.1011C>T (p.Thr337=) rs768490008 0.00004
NM_023036.6(DNAI2):c.1044G>A (p.Lys348=) rs775726145 0.00004
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=) rs556547267 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=) rs143723454 0.00004
NM_023036.6(DNAI2):c.1446G>T (p.Ser482=) rs368217836 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.159C>T (p.Cys53=) rs141118738 0.00004
NM_023036.6(DNAI2):c.162G>A (p.Ser54=) rs199562768 0.00004
NM_023036.6(DNAI2):c.1632G>A (p.Leu544=) rs370359274 0.00004
NM_023036.6(DNAI2):c.1713G>A (p.Thr571=) rs377499410 0.00004
NM_023036.6(DNAI2):c.1723-13T>C rs374057086 0.00004
NM_023036.6(DNAI2):c.324C>T (p.Asn108=) rs762726791 0.00004
NM_023036.6(DNAI2):c.408C>T (p.Asp136=) rs770624431 0.00004
NM_023036.6(DNAI2):c.610+13G>A rs368636962 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_024649.5(BBS1):c.1474-14C>T rs369972079 0.00004
NM_024649.5(BBS1):c.159+14C>T rs758468091 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.48-11C>T rs760009418 0.00004
NM_024649.5(BBS1):c.48-9C>A rs765571574 0.00004
NM_024649.5(BBS1):c.480-14C>T rs1374689742 0.00004
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168 0.00004
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.163C>T (p.Leu55=) rs887761680 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.936T>C (p.Ser312=) rs142630760 0.00004
NM_024753.5(TTC21B):c.1854G>A (p.Ser618=) rs529997599 0.00004
NM_024753.5(TTC21B):c.2138+15T>C rs751850855 0.00004
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.263-15A>G rs534360293 0.00004
NM_024753.5(TTC21B):c.263-4C>A rs763567542 0.00004
NM_024753.5(TTC21B):c.2757+20T>C rs373826896 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3222T>G (p.Thr1074=) rs547771085 0.00004
NM_024753.5(TTC21B):c.3477G>A (p.Ala1159=) rs545954417 0.00004
NM_024753.5(TTC21B):c.3798G>A (p.Pro1266=) rs767458935 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.3873+20T>C rs749543618 0.00004
NM_024753.5(TTC21B):c.66A>G (p.Val22=) rs778014644 0.00004
NM_024753.5(TTC21B):c.710+19A>G rs779005204 0.00004
NM_024753.5(TTC21B):c.895-16T>C rs774308869 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=) rs367689968 0.00004
NM_024809.5(TCTN2):c.1612+11C>T rs376075139 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.1895+12G>A rs1248269049 0.00004
NM_024809.5(TCTN2):c.273G>A (p.Val91=) rs375065995 0.00004
NM_024809.5(TCTN2):c.429T>C (p.Ile143=) rs188417716 0.00004
NM_024809.5(TCTN2):c.465G>A (p.Glu155=) rs150583279 0.00004
NM_024809.5(TCTN2):c.468C>T (p.Asn156=) rs771396774 0.00004
NM_024809.5(TCTN2):c.83-16T>G rs1223559773 0.00004
NM_024809.5(TCTN2):c.960C>T (p.Cys320=) rs145332333 0.00004
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630 0.00004
NM_025114.4(CEP290):c.2217+6A>G rs139027723 0.00004
NM_025114.4(CEP290):c.2218-5T>C rs939517627 0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.2784T>C (p.Val928=) rs774271927 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=) rs376462144 0.00004
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.3462-11T>C rs1296210160 0.00004
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=) rs779178851 0.00004
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=) rs1161295348 0.00004
NM_025114.4(CEP290):c.5012+11G>A rs778779951 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025132.4(WDR19):c.1836G>T (p.Leu612=) rs377428033 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2247C>T (p.Ala749=) rs753578673 0.00004
NM_025132.4(WDR19):c.2363+11G>C rs756503439 0.00004
NM_025132.4(WDR19):c.2385G>A (p.Leu795=) rs377425662 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2645+16G>A rs771913668 0.00004
NM_025132.4(WDR19):c.2673C>T (p.His891=) rs753954843 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3261+11C>T rs202231140 0.00004
NM_025132.4(WDR19):c.3378C>T (p.His1126=) rs762384397 0.00004
NM_025132.4(WDR19):c.6+9C>T rs953253544 0.00004
NM_030578.4(B9D2):c.309G>A (p.Pro103=) rs201735642 0.00004
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852 0.00004
NM_030578.4(B9D2):c.89-15C>T rs371483684 0.00004
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1527+13C>T rs756219595 0.00004
NM_031885.5(BBS2):c.531A>G (p.Lys177=) rs558360994 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031924.8(RSPH3):c.-19A>T rs571921293 0.00004
NM_031924.8(RSPH3):c.373C>T (p.Arg125Cys) rs183977315 0.00004
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.325A>C (p.Arg109=) rs199809442 0.00004
NM_033028.5(BBS4):c.480T>C (p.Asn160=) rs894151156 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.645C>T (p.Leu215=) rs373731535 0.00004
NM_033028.5(BBS4):c.6T>A (p.Ala2=) rs954863260 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_033028.5(BBS4):c.747C>T (p.His249=) rs776079791 0.00004
NM_033028.5(BBS4):c.864+10C>T rs201979024 0.00004
NM_033124.5(CCDC65):c.808-4C>T rs753543434 0.00004
NM_052844.4(DYNC2I2):c.111G>T (p.Pro37=) rs779081076 0.00004
NM_052844.4(DYNC2I2):c.1290G>A (p.Ser430=) rs373865808 0.00004
NM_052844.4(DYNC2I2):c.813+18C>T rs374334685 0.00004
NM_080860.4(RSPH1):c.501+9A>G rs373972724 0.00004
NM_080860.4(RSPH1):c.66G>T (p.Gly22=) rs774776494 0.00004
NM_080860.4(RSPH1):c.693G>A (p.Thr231=) rs372338741 0.00004
NM_144596.4(TTC8):c.1431+12C>T rs201053086 0.00004
NM_145038.5(DRC1):c.1422C>T (p.Ala474=) rs977739922 0.00004
NM_145038.5(DRC1):c.1600-7G>A rs780039487 0.00004
NM_145038.5(DRC1):c.1944A>G (p.Val648=) rs774615084 0.00004
NM_145045.5(ODAD3):c.1590+10A>G rs779597814 0.00004
NM_145045.5(ODAD3):c.543C>T (p.Leu181=) rs753332300 0.00004
NM_145045.5(ODAD3):c.849G>T (p.Leu283=) rs200595917 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 0.00004
NM_152384.3(BBS5):c.208+15T>C rs1019098515 0.00004
NM_152384.3(BBS5):c.480A>G (p.Val160=) rs779349158 0.00004
NM_152384.3(BBS5):c.693T>C (p.Tyr231=) rs150178711 0.00004
NM_152384.3(BBS5):c.825G>A (p.Pro275=) rs554049177 0.00004
NM_152618.3(BBS12):c.1230C>T (p.Asn410=) rs142657474 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110 0.00004
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718 0.00004
NM_152618.3(BBS12):c.69G>A (p.Ala23=) rs138579304 0.00004
NM_152732.5(RSPH9):c.671-8T>C rs371183985 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153704.6(TMEM67):c.1412+19A>G rs757870971 0.00004
NM_153704.6(TMEM67):c.1413-12T>G rs369870113 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.1773+10T>C rs371485093 0.00004
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.2765-12T>A rs1232793342 0.00004
NM_153704.6(TMEM67):c.313-19T>C rs748779738 0.00004
NM_153704.6(TMEM67):c.507-16T>C rs367547273 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00004
NM_170784.3(MKKS):c.792T>C (p.Tyr264=) rs74315397 0.00004
NM_176824.3(BBS7):c.1314C>T (p.Asp438=) rs774070535 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 0.00004
NM_176824.3(BBS7):c.865G>A (p.Val289Ile) rs200770952 0.00004
NM_178452.6(DNAAF1):c.1030+15G>A rs774316277 0.00004
NM_178452.6(DNAAF1):c.1218G>A (p.Glu406=) rs374207885 0.00004
NM_178452.6(DNAAF1):c.1401C>A (p.Thr467=) rs758659103 0.00004
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=) rs372197911 0.00004
NM_178452.6(DNAAF1):c.1713G>A (p.Pro571=) rs772607419 0.00004
NM_178452.6(DNAAF1):c.742-6T>C rs749307507 0.00004
NM_181426.2(CCDC39):c.42G>A (p.Gly14=) rs759103433 0.00004
NM_198428.3(BBS9):c.113-14T>A rs543714605 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.600A>G (p.Gln200=) rs764060515 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.2038+14G>C rs754648957 0.00004
NM_198525.3(KIF7):c.2192-10T>C rs771854977 0.00004
NM_198525.3(KIF7):c.2208C>G (p.Ala736=) rs778966699 0.00004
NM_198525.3(KIF7):c.2529C>T (p.Arg843=) rs199783943 0.00004
NM_198525.3(KIF7):c.2655G>A (p.Ala885=) rs779122875 0.00004
NM_198525.3(KIF7):c.2682C>T (p.Gly894=) rs1428071713 0.00004
NM_198525.3(KIF7):c.2958C>T (p.Ser986=) rs559548657 0.00004
NM_198525.3(KIF7):c.2988C>T (p.Ser996=) rs535807214 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.329-14C>T rs1013318465 0.00004
NM_198525.3(KIF7):c.336C>T (p.Leu112=) rs794727530 0.00004
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=) rs185689321 0.00004
NM_198525.3(KIF7):c.3664+13C>T rs780993719 0.00004
NM_198525.3(KIF7):c.923+19C>T rs546316306 0.00004
NM_213607.3(CCDC103):c.303G>A (p.Thr101=) rs200964903 0.00004
NM_213607.3(CCDC103):c.393C>T (p.Leu131=) rs766427351 0.00004
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=) rs779998371 0.00003
NM_000328.3(RPGR):c.2206A>G (p.Thr736Ala) rs746373784 0.00003
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_001010892.3(RSPH4A):c.341C>A (p.Thr114Lys) rs562856574 0.00003
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=) rs763638295 0.00003
NM_001034853.2(RPGR):c.155-10C>T rs757403373 0.00003
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001082538.3(TCTN1):c.1059C>T (p.Ser353=) rs370906446 0.00003
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=) rs781366326 0.00003
NM_001082538.3(TCTN1):c.1494+20G>A rs1024500142 0.00003
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=) rs760813360 0.00003
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=) rs376935369 0.00003
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=) rs983405128 0.00003
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=) rs771664440 0.00003
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=) rs775207770 0.00003
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001134831.2(AHI1):c.1151+12T>A rs1287645080 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.190-9T>C rs548312029 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2922G>A (p.Thr974=) rs369365764 0.00003
NM_001134831.2(AHI1):c.3012T>C (p.Thr1004=) rs1327430611 0.00003
NM_001134831.2(AHI1):c.3109+12T>A rs1229367138 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.852A>G (p.Ser284=) rs373466889 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001134831.2(AHI1):c.932-6G>A rs770083131 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=) rs774691904 0.00003
NM_001174150.2(ARL13B):c.912T>A (p.Val304=) rs1217967570 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1081-8T>A rs747743441 0.00003
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.192C>T (p.Val64=) rs777436964 0.00003
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) rs760404694 0.00003
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001199397.3(NEK1):c.450T>C (p.Ala150=) rs1473425427 0.00003
NM_001206927.2(DNAH8):c.10575A>G (p.Leu3525=) rs747217350 0.00003
NM_001206927.2(DNAH8):c.13758A>G (p.Lys4586=) rs752727909 0.00003
NM_001206927.2(DNAH8):c.1770A>G (p.Thr590=) rs758558948 0.00003
NM_001206927.2(DNAH8):c.309G>A (p.Leu103=) rs768999060 0.00003
NM_001206927.2(DNAH8):c.4212T>G (p.Val1404=) rs780066300 0.00003
NM_001206927.2(DNAH8):c.7035G>A (p.Gly2345=) rs376298750 0.00003
NM_001206927.2(DNAH8):c.8685C>T (p.Cys2895=) rs779311596 0.00003
NM_001206927.2(DNAH8):c.8742A>G (p.Ala2914=) rs200031658 0.00003
NM_001206927.2(DNAH8):c.9063+9T>G rs377327365 0.00003
NM_001256715.2(DNAAF3):c.-65G>C rs1371744369 0.00003
NM_001256715.2(DNAAF3):c.1074C>T (p.Thr358=) rs372671678 0.00003
NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=) rs369064646 0.00003
NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=) rs374560751 0.00003
NM_001256715.2(DNAAF3):c.1491G>A (p.Leu497=) rs1366437482 0.00003
NM_001256715.2(DNAAF3):c.363G>A (p.Leu121=) rs551100219 0.00003
NM_001277115.2(DNAH11):c.10485G>A (p.Val3495=) rs771238763 0.00003
NM_001277115.2(DNAH11):c.1072C>G (p.Arg358Gly) rs749125298 0.00003
NM_001277115.2(DNAH11):c.11203-5C>T rs767345006 0.00003
NM_001277115.2(DNAH11):c.11442C>T (p.His3814=) rs370056975 0.00003
NM_001277115.2(DNAH11):c.11691-4A>G rs376404379 0.00003
NM_001277115.2(DNAH11):c.11712G>C (p.Leu3904=) rs761612271 0.00003
NM_001277115.2(DNAH11):c.11897A>T (p.Gln3966Leu) rs777783731 0.00003
NM_001277115.2(DNAH11):c.12146C>T (p.Pro4049Leu) rs1428231658 0.00003
NM_001277115.2(DNAH11):c.1452T>G (p.Phe484Leu) rs755256285 0.00003
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp) rs764968620 0.00003
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe) rs1163253626 0.00003
NM_001277115.2(DNAH11):c.263A>G (p.Gln88Arg) rs372762132 0.00003
NM_001277115.2(DNAH11):c.270T>C (p.Leu90=) rs750522660 0.00003
NM_001277115.2(DNAH11):c.351+17A>G rs936907548 0.00003
NM_001277115.2(DNAH11):c.4000A>G (p.Ile1334Val) rs117965307 0.00003
NM_001277115.2(DNAH11):c.4254+8T>C rs771512009 0.00003
NM_001277115.2(DNAH11):c.4257C>T (p.Val1419=) rs1427083702 0.00003
NM_001277115.2(DNAH11):c.4944+9T>G rs772306572 0.00003
NM_001277115.2(DNAH11):c.4971C>T (p.Phe1657=) rs375997343 0.00003
NM_001277115.2(DNAH11):c.5172C>G (p.Ala1724=) rs778238497 0.00003
NM_001277115.2(DNAH11):c.5190G>A (p.Arg1730=) rs1343191409 0.00003
NM_001277115.2(DNAH11):c.7126C>T (p.Leu2376=) rs549049467 0.00003
NM_001277115.2(DNAH11):c.7417A>G (p.Met2473Val) rs553404548 0.00003
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val) rs752203815 0.00003
NM_001277115.2(DNAH11):c.7728C>T (p.Asp2576=) rs368846569 0.00003
NM_001277115.2(DNAH11):c.8100G>A (p.Thr2700=) rs72657365 0.00003
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=) rs367806628 0.00003
NM_001277115.2(DNAH11):c.8442G>A (p.Thr2814=) rs865937855 0.00003
NM_001277115.2(DNAH11):c.9303C>T (p.Asn3101=) rs375713138 0.00003
NM_001277115.2(DNAH11):c.9484-10C>T rs775144326 0.00003
NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp) rs554507939 0.00003
NM_001278293.3(ARL6):c.93G>A (p.Thr31=) rs778479091 0.00003
NM_001329943.3(KIAA0586):c.1656+4T>C rs368165741 0.00003
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) rs1356132325 0.00003
NM_001329943.3(KIAA0586):c.2944+13G>T rs377092455 0.00003
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) rs749756433 0.00003
NM_001329943.3(KIAA0586):c.3781+20T>G rs770866188 0.00003
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) rs768806838 0.00003
NM_001364171.2(ODAD1):c.1095A>C (p.Ala365=) rs772867955 0.00003
NM_001364171.2(ODAD1):c.1629C>T (p.Ala543=) rs755014432 0.00003
NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln) rs539314807 0.00003
NM_001364171.2(ODAD1):c.378G>A (p.Thr126=) rs775223049 0.00003
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00003
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) rs150532311 0.00003
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln) rs779977337 0.00003
NM_001369.3(DNAH5):c.10873-8G>A rs775390566 0.00003
NM_001369.3(DNAH5):c.11571-9A>G rs779715252 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.11735A>G (p.His3912Arg) rs773929052 0.00003
NM_001369.3(DNAH5):c.11883+10C>T rs753140220 0.00003
NM_001369.3(DNAH5):c.11940G>A (p.Glu3980=) rs377018163 0.00003
NM_001369.3(DNAH5):c.12048C>T (p.Ile4016=) rs375133229 0.00003
NM_001369.3(DNAH5):c.12075C>T (p.Ala4025=) rs761519239 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=) rs886059967 0.00003
NM_001369.3(DNAH5):c.12276G>A (p.Ala4092=) rs763359823 0.00003
NM_001369.3(DNAH5):c.12280-9T>C rs759095389 0.00003
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=) rs754273700 0.00003
NM_001369.3(DNAH5):c.12603C>T (p.Phe4201=) rs758897089 0.00003
NM_001369.3(DNAH5):c.13065G>C (p.Val4355=) rs372488592 0.00003
NM_001369.3(DNAH5):c.13068G>A (p.Val4356=) rs141961399 0.00003
NM_001369.3(DNAH5):c.13492-11G>T rs749125197 0.00003
NM_001369.3(DNAH5):c.1419C>T (p.Phe473=) rs373172723 0.00003
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845 0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) rs769275003 0.00003
NM_001369.3(DNAH5):c.192+7T>A rs1210630945 0.00003
NM_001369.3(DNAH5):c.2816C>T (p.Thr939Met) rs769689167 0.00003
NM_001369.3(DNAH5):c.2983+7A>G rs756339622 0.00003
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798 0.00003
NM_001369.3(DNAH5):c.3111C>T (p.Ala1037=) rs371824972 0.00003
NM_001369.3(DNAH5):c.3175-7A>G rs377328398 0.00003
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe) rs367913308 0.00003
NM_001369.3(DNAH5):c.3408A>G (p.Thr1136=) rs762124795 0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) rs116128702 0.00003
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299 0.00003
NM_001369.3(DNAH5):c.5028C>A (p.Val1676=) rs1009389873 0.00003
NM_001369.3(DNAH5):c.5323T>C (p.Leu1775=) rs751794427 0.00003
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala) rs755082450 0.00003
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=) rs372046349 0.00003
NM_001369.3(DNAH5):c.6062-5C>T rs766043540 0.00003
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val) rs200551639 0.00003
NM_001369.3(DNAH5):c.6411C>T (p.Leu2137=) rs776835360 0.00003
NM_001369.3(DNAH5):c.6492C>T (p.Thr2164=) rs1020749137 0.00003
NM_001369.3(DNAH5):c.6515A>G (p.Asn2172Ser) rs760155330 0.00003
NM_001369.3(DNAH5):c.6579+8T>G rs763394193 0.00003
NM_001369.3(DNAH5):c.6672A>G (p.Ala2224=) rs1060504236 0.00003
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp) rs747326567 0.00003
NM_001369.3(DNAH5):c.7167C>T (p.Thr2389=) rs377435331 0.00003
NM_001369.3(DNAH5):c.741T>C (p.Pro247=) rs374902528 0.00003
NM_001369.3(DNAH5):c.7609+7A>G rs572123950 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.7893G>A (p.Thr2631=) rs371810104 0.00003
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=) rs147427207 0.00003
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr) rs760739660 0.00003
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=) rs752656841 0.00003
NM_001369.3(DNAH5):c.8821-7A>G rs776228125 0.00003
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00003
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391 0.00003
NM_001369.3(DNAH5):c.9516C>T (p.His3172=) rs1452202315 0.00003
NM_001369.3(DNAH5):c.9561C>T (p.Phe3187=) rs761332828 0.00003
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401 0.00003
NM_001369.3(DNAH5):c.975+19T>C rs764847245 0.00003
NM_001375405.1(CEP120):c.1113G>A (p.Lys371=) rs375230630 0.00003
NM_001375405.1(CEP120):c.177A>G (p.Glu59=) rs376374734 0.00003
NM_001377.3(DYNC2H1):c.12166C>T (p.Leu4056=) rs762723352 0.00003
NM_001377.3(DYNC2H1):c.12195C>T (p.Asn4065=) rs751411944 0.00003
NM_001377.3(DYNC2H1):c.1908G>A (p.Arg636=) rs773864708 0.00003
NM_001377.3(DYNC2H1):c.2955C>A (p.Pro985=) rs777145692 0.00003
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) rs886047562 0.00003
NM_001377.3(DYNC2H1):c.6198G>A (p.Leu2066=) rs770224486 0.00003
NM_001377.3(DYNC2H1):c.64G>C (p.Gly22Arg) rs751464413 0.00003
NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg) rs761222472 0.00003
NM_001377.3(DYNC2H1):c.6893+14T>C rs372268543 0.00003
NM_001377.3(DYNC2H1):c.708A>G (p.Arg236=) rs756550778 0.00003
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014 0.00003
NM_001377.3(DYNC2H1):c.725A>G (p.His242Arg) rs185536034 0.00003
NM_001377.3(DYNC2H1):c.7292+13G>A rs1398795058 0.00003
NM_001377.3(DYNC2H1):c.7847T>C (p.Ile2616Thr) rs761650103 0.00003
NM_001377.3(DYNC2H1):c.828T>C (p.Pro276=) rs1013912636 0.00003
NM_001377.3(DYNC2H1):c.8312-11A>G rs749770515 0.00003
NM_001377.3(DYNC2H1):c.8536T>C (p.Ser2846Pro) rs767717747 0.00003
NM_001377.3(DYNC2H1):c.9107+13A>G rs769123892 0.00003
NM_001377.3(DYNC2H1):c.9232-8T>C rs909194619 0.00003
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=) rs376519124 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 0.00003
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093 0.00003
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=) rs758365496 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992 0.00003
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00003
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=) rs369744185 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001378454.1(ALMS1):c.2775T>C (p.Phe925=) rs958251140 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.3420C>T (p.Thr1140=) rs1300610392 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001378454.1(ALMS1):c.3768T>C (p.Asn1256=) rs1273618684 0.00003
NM_001378454.1(ALMS1):c.451-4C>G rs761589577 0.00003
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 0.00003
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246 0.00003
NM_001378454.1(ALMS1):c.6303G>A (p.Ser2101=) rs555344566 0.00003
NM_001378454.1(ALMS1):c.646+17T>C rs763246949 0.00003
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=) rs13009043 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=) rs762352626 0.00003
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=) rs745986665 0.00003
NM_001378615.1(CC2D2A):c.2004-12C>A rs141372003 0.00003
NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=) rs750219979 0.00003
NM_001378615.1(CC2D2A):c.2181+17T>C rs1016233369 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550 0.00003
NM_001378615.1(CC2D2A):c.2487-17T>C rs909380640 0.00003
NM_001378615.1(CC2D2A):c.2922+16T>C rs767460385 0.00003
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=) rs373698524 0.00003
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=) rs373671064 0.00003
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys) rs886042463 0.00003
NM_001378615.1(CC2D2A):c.3975+19A>G rs758410900 0.00003
NM_001378615.1(CC2D2A):c.4194T>C (p.Tyr1398=) rs752902174 0.00003
NM_001378615.1(CC2D2A):c.439-13T>G rs1305181844 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=) rs201439700 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1698-15G>A rs777747860 0.00003
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) rs755593188 0.00003
NM_001382391.1(CSPP1):c.2711-15A>G rs756159198 0.00003
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_001384732.1(CPLANE1):c.570+12C>T rs1339498232 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_001481.3(GAS8):c.1122G>C (p.Leu374=) rs371059059 0.00003
NM_001481.3(GAS8):c.570T>C (p.Asp190=) rs370692093 0.00003
NM_003114.5(SPAG1):c.1890A>G (p.Gly630=) rs141919974 0.00003
NM_003114.5(SPAG1):c.301-10C>T rs762977014 0.00003
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.1839T>C (p.Thr613=) rs760463802 0.00003
NM_003611.3(OFD1):c.2100G>A (p.Glu700=) rs780655531 0.00003
NM_003611.3(OFD1):c.2261-8C>T rs374969350 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.2538C>T (p.Ala846=) rs201362700 0.00003
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val) rs761100130 0.00003
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln) rs748952285 0.00003
NM_003611.3(OFD1):c.412+10G>A rs201837087 0.00003
NM_003611.3(OFD1):c.517+8T>C rs373361154 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_006642.5(SDCCAG8):c.1086C>T (p.Asp362=) rs753378348 0.00003
NM_006642.5(SDCCAG8):c.1116G>A (p.Ala372=) rs533721896 0.00003
NM_006642.5(SDCCAG8):c.1616+20T>C rs370951420 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=) rs778065772 0.00003
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=) rs142658750 0.00003
NM_012144.4(DNAI1):c.1064-20C>T rs1571404 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=) rs200766993 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.1773G>A (p.Ala591=) rs547499630 0.00003
NM_012144.4(DNAI1):c.633C>T (p.Cys211=) rs1021425002 0.00003
NM_012210.4(TRIM32):c.1191C>G (p.Val397=) rs757752867 0.00003
NM_012472.6(DNAAF11):c.1140+10G>A rs371118771 0.00003
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) rs915071476 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.654-20del rs777342714 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) rs200349591 0.00003
NM_014714.4(IFT140):c.126C>T (p.Ser42=) rs753351192 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1359+9C>T rs371341236 0.00003
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00003
NM_014714.4(IFT140):c.1432+18G>A rs374262499 0.00003
NM_014714.4(IFT140):c.1479C>T (p.Asn493=) rs373191298 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2116C>T (p.Leu706=) rs201118178 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.2229G>A (p.Val743=) rs770298357 0.00003
NM_014714.4(IFT140):c.2304C>T (p.Cys768=) rs373923984 0.00003
NM_014714.4(IFT140):c.2577+9C>T rs764603088 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.3453+14G>A rs376739986 0.00003
NM_014714.4(IFT140):c.3645C>T (p.Ala1215=) rs778438102 0.00003
NM_014714.4(IFT140):c.3714G>A (p.Ala1238=) rs142224579 0.00003
NM_014714.4(IFT140):c.4158C>T (p.Tyr1386=) rs111494974 0.00003
NM_014714.4(IFT140):c.4263C>T (p.Asp1421=) rs138436199 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.438C>T (p.His146=) rs564988341 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.684C>T (p.Ser228=) rs765361599 0.00003
NM_014714.4(IFT140):c.696G>A (p.Thr232=) rs144087201 0.00003
NM_014956.5(CEP164):c.1233+9G>A rs1042105817 0.00003
NM_014956.5(CEP164):c.129A>G (p.Glu43=) rs762888111 0.00003
NM_014956.5(CEP164):c.2583G>A (p.Val861=) rs747640551 0.00003
NM_014956.5(CEP164):c.2760+10C>T rs1441985433 0.00003
NM_014956.5(CEP164):c.3045G>A (p.Val1015=) rs201873800 0.00003
NM_014956.5(CEP164):c.3278+16C>G rs900461612 0.00003
NM_014956.5(CEP164):c.3279-5T>C rs768653923 0.00003
NM_014956.5(CEP164):c.3501+7A>G rs569367999 0.00003
NM_014956.5(CEP164):c.3586T>C (p.Leu1196=) rs759744930 0.00003
NM_014956.5(CEP164):c.390G>A (p.Ser130=) rs773045906 0.00003
NM_014956.5(CEP164):c.4097-9C>T rs1362686273 0.00003
NM_014956.5(CEP164):c.4107G>A (p.Pro1369=) rs774656364 0.00003
NM_015102.5(NPHP4):c.2280C>T (p.Ile760=) rs1013943590 0.00003
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015272.5(RPGRIP1L):c.1104-14C>T rs763897513 0.00003
NM_015272.5(RPGRIP1L):c.1351-7A>G rs559918716 0.00003
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=) rs540930741 0.00003
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=) rs775616241 0.00003
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=) rs758547965 0.00003
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=) rs1390109484 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3433-8T>G rs757913656 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.530-7T>C rs780569188 0.00003
NM_015272.5(RPGRIP1L):c.776+13A>C rs772348382 0.00003
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=) rs781135802 0.00003
NM_015512.5(DNAH1):c.10005C>T (p.Pro3335=) rs530691167 0.00003
NM_015512.5(DNAH1):c.10764C>T (p.Ser3588=) rs375328522 0.00003
NM_015512.5(DNAH1):c.10989G>C (p.Val3663=) rs774995725 0.00003
NM_015512.5(DNAH1):c.129A>G (p.Pro43=) rs373701749 0.00003
NM_015512.5(DNAH1):c.1593G>A (p.Ser531=) rs370224947 0.00003
NM_015512.5(DNAH1):c.1955+10G>A rs777008373 0.00003
NM_015512.5(DNAH1):c.2133C>T (p.Ser711=) rs374015766 0.00003
NM_015512.5(DNAH1):c.2532C>T (p.Cys844=) rs367573092 0.00003
NM_015512.5(DNAH1):c.3227-14G>A rs765943027 0.00003
NM_015512.5(DNAH1):c.348C>A (p.Gly116=) rs779186461 0.00003
NM_015512.5(DNAH1):c.3780G>C (p.Leu1260=) rs765669650 0.00003
NM_015512.5(DNAH1):c.4959C>T (p.Ile1653=) rs542195791 0.00003
NM_015512.5(DNAH1):c.5133C>T (p.Tyr1711=) rs777932730 0.00003
NM_015512.5(DNAH1):c.5157C>T (p.Leu1719=) rs770135382 0.00003
NM_015512.5(DNAH1):c.5412C>T (p.Ile1804=) rs771985542 0.00003
NM_015512.5(DNAH1):c.5580C>T (p.Leu1860=) rs775222234 0.00003
NM_015512.5(DNAH1):c.6985+13G>A rs367913918 0.00003
NM_015512.5(DNAH1):c.7038G>A (p.Pro2346=) rs752238504 0.00003
NM_015512.5(DNAH1):c.7188G>C (p.Arg2396=) rs999878748 0.00003
NM_015512.5(DNAH1):c.7263A>G (p.Ala2421=) rs375105856 0.00003
NM_015512.5(DNAH1):c.8142G>A (p.Leu2714=) rs376732588 0.00003
NM_015512.5(DNAH1):c.8607C>T (p.Leu2869=) rs1220539629 0.00003
NM_015512.5(DNAH1):c.8967G>A (p.Pro2989=) rs754243654 0.00003
NM_015512.5(DNAH1):c.9042G>A (p.Pro3014=) rs61734630 0.00003
NM_015512.5(DNAH1):c.9123C>T (p.Arg3041=) rs368440271 0.00003
NM_015512.5(DNAH1):c.9330G>A (p.Glu3110=) rs762482660 0.00003
NM_015512.5(DNAH1):c.9891+19T>A rs369106781 0.00003
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=) rs771848227 0.00003
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387 0.00003
NM_015631.6(TCTN3):c.18C>T (p.Leu6=) rs879694012 0.00003
NM_015662.3(IFT172):c.1222-5C>T rs920680020 0.00003
NM_015662.3(IFT172):c.1325+11A>G rs767955758 0.00003
NM_015662.3(IFT172):c.1693-15G>A rs1214000278 0.00003
NM_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 0.00003
NM_015662.3(IFT172):c.297-13T>C rs376856549 0.00003
NM_015662.3(IFT172):c.2975+14C>T rs764978738 0.00003
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=) rs751712354 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.3597C>T (p.Val1199=) rs371169770 0.00003
NM_015662.3(IFT172):c.3822-16G>A rs373661630 0.00003
NM_015662.3(IFT172):c.4051-9A>G rs772647033 0.00003
NM_015662.3(IFT172):c.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.4225-18dup rs773571606 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=) rs370933808 0.00003
NM_015662.3(IFT172):c.4815+19C>T rs371490518 0.00003
NM_015662.3(IFT172):c.4915-17C>T rs1431263019 0.00003
NM_015681.6(B9D1):c.381G>A (p.Thr127=) rs755165652 0.00003
NM_015896.4(ZMYND10):c.1281A>G (p.Gly427=) rs1417662028 0.00003
NM_015910.7(WDPCP):c.1356G>A (p.Lys452=) rs372258764 0.00003
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256 0.00003
NM_015910.7(WDPCP):c.33C>T (p.Ser11=) rs557213834 0.00003
NM_015910.7(WDPCP):c.633+19A>G rs766935204 0.00003
NM_016616.5(NME8):c.1140-9T>G rs765103564 0.00003
NM_016616.5(NME8):c.1323A>G (p.Glu441=) rs775488207 0.00003
NM_016616.5(NME8):c.311C>T (p.Pro104Leu) rs567620217 0.00003
NM_016616.5(NME8):c.738C>T (p.Thr246=) rs201321298 0.00003
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1095+18G>A rs371273226 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1274-5C>T rs762686385 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.252C>G (p.Leu84=) rs969699321 0.00003
NM_017777.4(MKS1):c.30C>T (p.Thr10=) rs576239597 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.543C>T (p.Ile181=) rs1156392394 0.00003
NM_017777.4(MKS1):c.585C>T (p.His195=) rs200628275 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.858+7G>A rs918270665 0.00003
NM_017777.4(MKS1):c.918T>C (p.Thr306=) rs373269341 0.00003
NM_017802.4(DNAAF5):c.1025-7G>A rs748574039 0.00003
NM_017802.4(DNAAF5):c.1083C>T (p.Leu361=) rs139756611 0.00003
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=) rs146751534 0.00003
NM_017950.4(CCDC40):c.1458C>T (p.Asp486=) rs752463994 0.00003
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=) rs375603538 0.00003
NM_017950.4(CCDC40):c.21G>A (p.Ala7=) rs766369570 0.00003
NM_017950.4(CCDC40):c.2460G>A (p.Glu820=) rs369702545 0.00003
NM_017950.4(CCDC40):c.2619+9G>A rs752961530 0.00003
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=) rs776232255 0.00003
NM_017950.4(CCDC40):c.3258G>C (p.Leu1086=) rs759098835 0.00003
NM_017950.4(CCDC40):c.336G>A (p.Thr112=) rs539062213 0.00003
NM_017950.4(CCDC40):c.438C>T (p.Thr146=) rs147879748 0.00003
NM_017950.4(CCDC40):c.676+11C>G rs761925173 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=) rs748373806 0.00003
NM_018051.5(DYNC2I1):c.16-6A>G rs543244299 0.00003
NM_018051.5(DYNC2I1):c.825C>T (p.Asn275=) rs370119780 0.00003
NM_018076.5(ODAD2):c.1460A>T (p.Gln487Leu) rs773452157 0.00003
NM_018076.5(ODAD2):c.2271C>G (p.Ala757=) rs112483026 0.00003
NM_018076.5(ODAD2):c.2934C>T (p.Asn978=) rs139934178 0.00003
NM_018076.5(ODAD2):c.42C>T (p.Ala14=) rs537638168 0.00003
NM_018076.5(ODAD2):c.534G>C (p.Leu178Phe) rs550542420 0.00003
NM_018076.5(ODAD2):c.657C>T (p.Val219=) rs765025001 0.00003
NM_018076.5(ODAD2):c.906A>G (p.Ser302=) rs767652411 0.00003
NM_018139.3(DNAAF2):c.1227C>G (p.Gly409=) rs1045466672 0.00003
NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=) rs1175004755 0.00003
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00003
NM_018139.3(DNAAF2):c.462C>G (p.Ala154=) rs749642262 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_019892.6(INPP5E):c.1095G>A (p.Ser365=) rs748104868 0.00003
NM_019892.6(INPP5E):c.1098G>A (p.Ala366=) rs374142756 0.00003
NM_019892.6(INPP5E):c.1374T>C (p.Tyr458=) rs886038652 0.00003
NM_019892.6(INPP5E):c.1614C>T (p.Ile538=) rs778220171 0.00003
NM_019892.6(INPP5E):c.1666-20C>T rs1564431321 0.00003
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698 0.00003
NM_019892.6(INPP5E):c.1802+15G>A rs745341543 0.00003
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490 0.00003
NM_019892.6(INPP5E):c.843C>T (p.Ser281=) rs375981295 0.00003
NM_020779.4(WDR35):c.1113A>G (p.Lys371=) rs778831561 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388 0.00003
NM_020779.4(WDR35):c.3363-15C>T rs763500770 0.00003
NM_020800.3(IFT80):c.1386A>G (p.Glu462=) rs1039675371 0.00003
NM_020800.3(IFT80):c.2034A>T (p.Val678=) rs773068068 0.00003
NM_020800.3(IFT80):c.2307C>T (p.Ser769=) rs565364572 0.00003
NM_020800.3(IFT80):c.371-20A>T rs1225608232 0.00003
NM_021147.5(CCNO):c.567+10G>A rs755915635 0.00003
NM_021147.5(CCNO):c.999C>T (p.His333=) rs143418535 0.00003
NM_023036.6(DNAI2):c.1023C>T (p.Ile341=) rs749432259 0.00003
NM_023036.6(DNAI2):c.1104C>T (p.Tyr368=) rs1021470707 0.00003
NM_023036.6(DNAI2):c.1212-6C>T rs751745489 0.00003
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=) rs370421003 0.00003
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=) rs371989598 0.00003
NM_023036.6(DNAI2):c.1494+9C>T rs1255545139 0.00003
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=) rs372259857 0.00003
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=) rs767757416 0.00003
NM_023036.6(DNAI2):c.657C>T (p.Leu219=) rs539461253 0.00003
NM_024649.5(BBS1):c.1111-13C>T rs768620927 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 0.00003
NM_024649.5(BBS1):c.518+20C>T rs375567052 0.00003
NM_024649.5(BBS1):c.684C>T (p.Leu228=) rs764202615 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.197+11C>A rs766419844 0.00003
NM_024685.4(BBS10):c.198-19T>A rs368334772 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.756T>C (p.Asp252=) rs762540567 0.00003
NM_024753.5(TTC21B):c.1488C>T (p.Phe496=) rs777125970 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2721T>C (p.Tyr907=) rs369005097 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2853C>T (p.Asn951=) rs139246984 0.00003
NM_024753.5(TTC21B):c.3357C>T (p.His1119=) rs772142302 0.00003
NM_024753.5(TTC21B):c.430-6T>G rs554154931 0.00003
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=) rs760942775 0.00003
NM_024809.5(TCTN2):c.444T>C (p.Ser148=) rs771060074 0.00003
NM_024809.5(TCTN2):c.630C>T (p.Asp210=) rs560269152 0.00003
NM_024809.5(TCTN2):c.83-9C>G rs775671051 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.2368-7T>C rs1470044444 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025114.4(CEP290):c.3310-7T>G rs373298179 0.00003
NM_025114.4(CEP290):c.3462-12A>G rs778134699 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4195-9T>C rs546957016 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4438-7A>G rs764079476 0.00003
NM_025114.4(CEP290):c.4707G>A (p.Glu1569=) rs376242512 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.6090T>C (p.His2030=) rs1055944923 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 0.00003
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=) rs751895513 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.852+14T>C rs571313482 0.00003
NM_025132.4(WDR19):c.2706C>T (p.Ala902=) rs766560008 0.00003
NM_025132.4(WDR19):c.2766A>G (p.Lys922=) rs765314003 0.00003
NM_025132.4(WDR19):c.3147G>A (p.Ser1049=) rs751070560 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3358+9G>A rs752091149 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.4026G>A (p.Leu1342=) rs371200402 0.00003
NM_031885.5(BBS2):c.117+10C>T rs376041093 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1527+12G>A rs376715521 0.00003
NM_031885.5(BBS2):c.1878C>T (p.Val626=) rs555264290 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1950T>C (p.Leu650=) rs752978565 0.00003
NM_031885.5(BBS2):c.2059+15A>G rs571449292 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.717+16C>A rs752825833 0.00003
NM_031924.8(RSPH3):c.-190G>A rs755765579 0.00003
NM_031924.8(RSPH3):c.336T>C (p.Asp112=) rs1469244347 0.00003
NM_031924.8(RSPH3):c.374G>A (p.Arg125His) rs556783606 0.00003
NM_033028.5(BBS4):c.1270T>C (p.Leu424=) rs376011637 0.00003
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_033028.5(BBS4):c.963A>G (p.Ala321=) rs368144793 0.00003
NM_033124.5(CCDC65):c.1179+9C>T rs951225338 0.00003
NM_052844.4(DYNC2I2):c.1131C>T (p.Ser377=) rs149225851 0.00003
NM_052844.4(DYNC2I2):c.1373-19dup rs757444230 0.00003
NM_052844.4(DYNC2I2):c.1373-6T>C rs761480637 0.00003
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser) rs763670176 0.00003
NM_052844.4(DYNC2I2):c.90G>A (p.Pro30=) rs919478715 0.00003
NM_052844.4(DYNC2I2):c.990C>T (p.Arg330=) rs753727336 0.00003
NM_052844.4(DYNC2I2):c.999C>T (p.Thr333=) rs764088224 0.00003
NM_080860.4(RSPH1):c.162T>C (p.His54=) rs150239715 0.00003
NM_080860.4(RSPH1):c.168+9C>T rs371856844 0.00003
NM_080860.4(RSPH1):c.513T>C (p.Pro171=) rs767684217 0.00003
NM_080860.4(RSPH1):c.727+16G>A rs571130499 0.00003
NM_144596.4(TTC8):c.1328G>A (p.Arg443Gln) rs746920262 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_145038.5(DRC1):c.1503C>T (p.Asp501=) rs139876504 0.00003
NM_145038.5(DRC1):c.1605T>C (p.Leu535=) rs773501166 0.00003
NM_145038.5(DRC1):c.191A>G (p.Glu64Gly) rs138917435 0.00003
NM_145038.5(DRC1):c.1935G>A (p.Pro645=) rs561986345 0.00003
NM_145038.5(DRC1):c.2097G>A (p.Leu699=) rs200604106 0.00003
NM_145045.5(ODAD3):c.1254C>T (p.Tyr418=) rs752861511 0.00003
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
NM_152384.3(BBS5):c.600T>C (p.Ser200=) rs1229922724 0.00003
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162 0.00003
NM_152618.3(BBS12):c.1608C>T (p.Phe536=) rs148277417 0.00003
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu) rs199874020 0.00003
NM_153704.6(TMEM67):c.1412+18G>T rs771301847 0.00003
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=) rs1297734907 0.00003
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=) rs1436606444 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_176824.3(BBS7):c.1512-12A>G rs369411905 0.00003
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320 0.00003
NM_176824.3(BBS7):c.719-16A>G rs1311400903 0.00003
NM_176824.3(BBS7):c.789C>T (p.Asp263=) rs140478463 0.00003
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=) rs772497904 0.00003
NM_178452.6(DNAAF1):c.1272G>A (p.Ser424=) rs772170131 0.00003
NM_178452.6(DNAAF1):c.1359G>A (p.Val453=) rs267604662 0.00003
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=) rs769031288 0.00003
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=) rs763040302 0.00003
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=) rs144962513 0.00003
NM_181426.2(CCDC39):c.1034+7A>T rs191242640 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_198525.3(KIF7):c.1671G>A (p.Gly557=) rs142355569 0.00003
NM_198525.3(KIF7):c.1896G>A (p.Pro632=) rs769851023 0.00003
NM_198525.3(KIF7):c.1953G>A (p.Ala651=) rs764831222 0.00003
NM_198525.3(KIF7):c.2038+12G>A rs545348969 0.00003
NM_198525.3(KIF7):c.2191+11G>A rs199753549 0.00003
NM_198525.3(KIF7):c.2192-15C>G rs983505734 0.00003
NM_198525.3(KIF7):c.2394+10G>A rs373852548 0.00003
NM_198525.3(KIF7):c.2472C>T (p.Leu824=) rs199513810 0.00003
NM_198525.3(KIF7):c.2538G>A (p.Thr846=) rs746816055 0.00003
NM_198525.3(KIF7):c.2688C>T (p.Asn896=) rs779076505 0.00003
NM_198525.3(KIF7):c.2760G>A (p.Glu920=) rs777277054 0.00003
NM_198525.3(KIF7):c.2895+15G>A rs779269518 0.00003
NM_198525.3(KIF7):c.3518-17C>T rs200157929 0.00003
NM_198525.3(KIF7):c.3518-4C>G rs1226183855 0.00003
NM_198525.3(KIF7):c.3753G>A (p.Leu1251=) rs140121479 0.00003
NM_198525.3(KIF7):c.3840G>A (p.Ser1280=) rs530450447 0.00003
NM_198525.3(KIF7):c.3903C>G (p.Pro1301=) rs749589340 0.00003
NM_198525.3(KIF7):c.3915G>A (p.Arg1305=) rs763741856 0.00003
NM_198525.3(KIF7):c.3942G>C (p.Leu1314=) rs776674506 0.00003
NM_213607.3(CCDC103):c.486G>A (p.Ala162=) rs562183648 0.00003
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001010892.3(RSPH4A):c.922-18C>T rs1232890638 0.00002
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=) rs759743089 0.00002
NM_001034853.2(RPGR):c.1695A>G (p.Gln565=) rs1315296776 0.00002
NM_001034853.2(RPGR):c.28+15C>T rs2068068838 0.00002
NM_001034853.2(RPGR):c.470-19C>T rs752337687 0.00002
NM_001034853.2(RPGR):c.603T>C (p.His201=) rs765580620 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=) rs759588884 0.00002
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=) rs754192411 0.00002
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=) rs376626018 0.00002
NM_001082538.3(TCTN1):c.237C>G (p.Val79=) rs374598052 0.00002
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=) rs950880140 0.00002
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=) rs757534239 0.00002
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=) rs372535670 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val) rs748804342 0.00002
NM_001134831.2(AHI1):c.108A>G (p.Lys36=) rs755465958 0.00002
NM_001134831.2(AHI1):c.1425C>G (p.Ala475=) rs749317327 0.00002
NM_001134831.2(AHI1):c.1441-20A>G rs900104028 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.2493-12T>C rs753811172 0.00002
NM_001134831.2(AHI1):c.2511T>C (p.Phe837=) rs774900587 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001134831.2(AHI1):c.2743C>T (p.Leu915=) rs201022062 0.00002
NM_001134831.2(AHI1):c.2754C>T (p.Tyr918=) rs371949853 0.00002
NM_001134831.2(AHI1):c.3109+8C>T rs760955304 0.00002
NM_001134831.2(AHI1):c.996G>A (p.Pro332=) rs765587432 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001173990.3(TMEM216):c.35-19C>T rs934536093 0.00002
NM_001173990.3(TMEM216):c.375C>T (p.Leu125=) rs753317056 0.00002
NM_001173990.3(TMEM216):c.54C>A (p.Thr18=) rs1374118965 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001174150.2(ARL13B):c.1211-20G>T rs1296477933 0.00002
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971 0.00002
NM_001174150.2(ARL13B):c.981G>A (p.Gln327=) rs749088942 0.00002
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=) rs748821872 0.00002
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=) rs376870683 0.00002
NM_001199397.3(NEK1):c.99G>A (p.Lys33=) rs758301993 0.00002
NM_001206927.2(DNAH8):c.11205T>C (p.His3735=) rs1247723445 0.00002
NM_001206927.2(DNAH8):c.11709C>A (p.Thr3903=) rs145061720 0.00002
NM_001206927.2(DNAH8):c.1596A>C (p.Pro532=) rs769852680 0.00002
NM_001206927.2(DNAH8):c.2163C>T (p.Asp721=) rs200007655 0.00002
NM_001206927.2(DNAH8):c.6183C>T (p.Pro2061=) rs143246100 0.00002
NM_001206927.2(DNAH8):c.6311-5G>A rs372864115 0.00002
NM_001206927.2(DNAH8):c.7230T>G (p.Ala2410=) rs138406301 0.00002
NM_001244189.2(KIAA0586):c.9+14C>T rs1036728165 0.00002
NM_001256715.2(DNAAF3):c.1049-3C>T rs747311078 0.00002
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=) rs779990994 0.00002
NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=) rs899636986 0.00002
NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=) rs368857479 0.00002
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=) rs201475447 0.00002
NM_001277115.2(DNAH11):c.11041G>A (p.Val3681Met) rs371617349 0.00002
NM_001277115.2(DNAH11):c.11811A>G (p.Val3937=) rs1288573843 0.00002
NM_001277115.2(DNAH11):c.12099C>T (p.Ile4033=) rs375296714 0.00002
NM_001277115.2(DNAH11):c.12195+10C>T rs578249356 0.00002
NM_001277115.2(DNAH11):c.12848T>C (p.Leu4283Pro) rs373110271 0.00002
NM_001277115.2(DNAH11):c.12934-17T>G rs754425843 0.00002
NM_001277115.2(DNAH11):c.13212G>A (p.Thr4404=) rs774004689 0.00002
NM_001277115.2(DNAH11):c.1710+8C>G rs554141853 0.00002
NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile) rs575221219 0.00002
NM_001277115.2(DNAH11):c.2668-14T>C rs775720541 0.00002
NM_001277115.2(DNAH11):c.3714T>G (p.Pro1238=) rs780975797 0.00002
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly) rs749057056 0.00002
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=) rs373969291 0.00002
NM_001277115.2(DNAH11):c.444T>C (p.Phe148=) rs930817553 0.00002
NM_001277115.2(DNAH11):c.4539A>G (p.Glu1513=) rs572309789 0.00002
NM_001277115.2(DNAH11):c.4842C>T (p.Leu1614=) rs755293443 0.00002
NM_001277115.2(DNAH11):c.4920C>T (p.Leu1640=) rs746563330 0.00002
NM_001277115.2(DNAH11):c.495+18A>G rs779666043 0.00002
NM_001277115.2(DNAH11):c.5074G>A (p.Glu1692Lys) rs367833062 0.00002
NM_001277115.2(DNAH11):c.5099A>C (p.Glu1700Ala) rs1478539154 0.00002
NM_001277115.2(DNAH11):c.5433C>T (p.Asp1811=) rs761154725 0.00002
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His) rs750430725 0.00002
NM_001277115.2(DNAH11):c.6005G>A (p.Arg2002Gln) rs755849132 0.00002
NM_001277115.2(DNAH11):c.6190G>A (p.Asp2064Asn) rs756809691 0.00002
NM_001277115.2(DNAH11):c.6325G>A (p.Asp2109Asn) rs760217754 0.00002
NM_001277115.2(DNAH11):c.6387G>A (p.Arg2129=) rs1312853506 0.00002
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser) rs995773912 0.00002
NM_001277115.2(DNAH11):c.7134+10C>T rs757164819 0.00002
NM_001277115.2(DNAH11):c.7641G>A (p.Leu2547=) rs1247351644 0.00002
NM_001277115.2(DNAH11):c.7863C>T (p.Val2621=) rs755501742 0.00002
NM_001277115.2(DNAH11):c.8155-14T>C rs772631712 0.00002
NM_001277115.2(DNAH11):c.8353A>G (p.Ile2785Val) rs776228270 0.00002
NM_001277115.2(DNAH11):c.8427G>A (p.Thr2809=) rs745714334 0.00002
NM_001277115.2(DNAH11):c.8511-16C>T rs563123099 0.00002
NM_001277115.2(DNAH11):c.8577T>C (p.Ser2859=) rs373450811 0.00002
NM_001277115.2(DNAH11):c.8941-12A>T rs886038475 0.00002
NM_001277115.2(DNAH11):c.9063C>T (p.Ser3021=) rs368820581 0.00002
NM_001277115.2(DNAH11):c.9484-16T>C rs769533775 0.00002
NM_001277115.2(DNAH11):c.9924+12A>G rs760445518 0.00002
NM_001278293.3(ARL6):c.185+9C>T rs768962345 0.00002
NM_001278293.3(ARL6):c.479+7T>C rs924315465 0.00002
NM_001329943.3(KIAA0586):c.1130-14C>G rs1457711769 0.00002
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141 0.00002
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) rs769869324 0.00002
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) rs1031513625 0.00002
NM_001329943.3(KIAA0586):c.3782-18T>C rs1430875009 0.00002
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) rs113191202 0.00002
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) rs1375416810 0.00002
NM_001329943.3(KIAA0586):c.4169-8G>C rs766302985 0.00002
NM_001364171.2(ODAD1):c.144A>G (p.Glu48=) rs377679653 0.00002
NM_001364171.2(ODAD1):c.1572G>A (p.Val524=) rs1296406880 0.00002
NM_001364171.2(ODAD1):c.170+11C>T rs554528909 0.00002
NM_001364171.2(ODAD1):c.1800C>T (p.Gly600=) rs570425201 0.00002
NM_001364171.2(ODAD1):c.345G>A (p.Arg115=) rs886792871 0.00002
NM_001364171.2(ODAD1):c.474G>A (p.Gln158=) rs1353613627 0.00002
NM_001364171.2(ODAD1):c.729C>T (p.Ser243=) rs547074727 0.00002
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn) rs1215107095 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.10230G>A (p.Thr3410=) rs765000004 0.00002
NM_001369.3(DNAH5):c.10434T>C (p.Asp3478=) rs758443484 0.00002
NM_001369.3(DNAH5):c.10584A>G (p.Leu3528=) rs765951022 0.00002
NM_001369.3(DNAH5):c.10599A>G (p.Pro3533=) rs970408067 0.00002
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=) rs759149687 0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11212-18A>C rs753193432 0.00002
NM_001369.3(DNAH5):c.11395C>T (p.Leu3799=) rs1478663527 0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 0.00002
NM_001369.3(DNAH5):c.11455+7T>G rs774101738 0.00002
NM_001369.3(DNAH5):c.11570+4C>T rs771601699 0.00002
NM_001369.3(DNAH5):c.1158C>T (p.Tyr386=) rs970684923 0.00002
NM_001369.3(DNAH5):c.12027C>T (p.Ile4009=) rs780710528 0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779 0.00002
NM_001369.3(DNAH5):c.12129G>A (p.Thr4043=) rs779527506 0.00002
NM_001369.3(DNAH5):c.12582T>C (p.Thr4194=) rs1428718985 0.00002
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) rs150357258 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369.3(DNAH5):c.13275C>T (p.Ser4425=) rs370545463 0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys) rs777295839 0.00002
NM_001369.3(DNAH5):c.13641G>A (p.Lys4547=) rs746445145 0.00002
NM_001369.3(DNAH5):c.13646A>T (p.Asn4549Ile) rs779267747 0.00002
NM_001369.3(DNAH5):c.1398G>A (p.Glu466=) rs759227909 0.00002
NM_001369.3(DNAH5):c.1537-10A>T rs777597757 0.00002
NM_001369.3(DNAH5):c.1611C>T (p.Tyr537=) rs367877988 0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) rs781059966 0.00002
NM_001369.3(DNAH5):c.1836C>T (p.Tyr612=) rs1035218078 0.00002
NM_001369.3(DNAH5):c.1869C>T (p.Ile623=) rs752792992 0.00002
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) rs373727231 0.00002
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His) rs370272258 0.00002
NM_001369.3(DNAH5):c.1905T>C (p.His635=) rs545295433 0.00002
NM_001369.3(DNAH5):c.2040G>A (p.Ala680=) rs749039184 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.2089T>C (p.Leu697=) rs146842552 0.00002
NM_001369.3(DNAH5):c.2838A>G (p.Lys946=) rs1035669978 0.00002
NM_001369.3(DNAH5):c.291T>C (p.Ser97=) rs777683929 0.00002
NM_001369.3(DNAH5):c.2985C>T (p.Asp995=) rs779686658 0.00002
NM_001369.3(DNAH5):c.3039C>T (p.Ser1013=) rs560267080 0.00002
NM_001369.3(DNAH5):c.3144C>T (p.Val1048=) rs758437071 0.00002
NM_001369.3(DNAH5):c.3300C>T (p.Pro1100=) rs375299394 0.00002
NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=) rs542552959 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.3834+8A>G rs762484857 0.00002
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) rs774680760 0.00002
NM_001369.3(DNAH5):c.3897T>C (p.Val1299=) rs749416187 0.00002
NM_001369.3(DNAH5):c.4104T>A (p.Leu1368=) rs775914213 0.00002
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00002
NM_001369.3(DNAH5):c.4332T>C (p.Asn1444=) rs1246376656 0.00002
NM_001369.3(DNAH5):c.4443G>A (p.Pro1481=) rs141196881 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4677A>T (p.Thr1559=) rs919108956 0.00002
NM_001369.3(DNAH5):c.4686C>T (p.Phe1562=) rs751766956 0.00002
NM_001369.3(DNAH5):c.4746C>T (p.Ile1582=) rs200523486 0.00002
NM_001369.3(DNAH5):c.4783C>T (p.Leu1595=) rs945098046 0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103 0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) rs745381842 0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln) rs775506164 0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) rs747116308 0.00002
NM_001369.3(DNAH5):c.5398T>C (p.Leu1800=) rs201266962 0.00002
NM_001369.3(DNAH5):c.5484+10T>C rs564286425 0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met) rs190749755 0.00002
NM_001369.3(DNAH5):c.5648G>A (p.Arg1883Gln) rs747514968 0.00002
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) rs556936569 0.00002
NM_001369.3(DNAH5):c.5895G>A (p.Thr1965=) rs537016848 0.00002
NM_001369.3(DNAH5):c.594G>A (p.Glu198=) rs769718109 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.636T>G (p.Gly212=) rs376360357 0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=) rs767344710 0.00002
NM_001369.3(DNAH5):c.6580-10C>A rs563828042 0.00002
NM_001369.3(DNAH5):c.660+10A>G rs750383077 0.00002
NM_001369.3(DNAH5):c.672A>G (p.Arg224=) rs147445110 0.00002
NM_001369.3(DNAH5):c.687T>C (p.Leu229=) rs751174310 0.00002
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln) rs558294959 0.00002
NM_001369.3(DNAH5):c.6918C>T (p.Asp2306=) rs1437248302 0.00002
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=) rs768567429 0.00002
NM_001369.3(DNAH5):c.7296C>T (p.Phe2432=) rs748328316 0.00002
NM_001369.3(DNAH5):c.7377T>A (p.Ile2459=) rs200022014 0.00002
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=) rs771511314 0.00002
NM_001369.3(DNAH5):c.7620G>A (p.Thr2540=) rs541631905 0.00002
NM_001369.3(DNAH5):c.7656G>A (p.Pro2552=) rs764554950 0.00002
NM_001369.3(DNAH5):c.7761A>G (p.Leu2587=) rs1759853119 0.00002
NM_001369.3(DNAH5):c.7887+7G>C rs775316918 0.00002
NM_001369.3(DNAH5):c.7935C>T (p.Gly2645=) rs780409299 0.00002
NM_001369.3(DNAH5):c.799-10G>T rs750556389 0.00002
NM_001369.3(DNAH5):c.8064A>G (p.Leu2688=) rs754511938 0.00002
NM_001369.3(DNAH5):c.8076G>A (p.Gly2692=) rs758418210 0.00002
NM_001369.3(DNAH5):c.8151C>A (p.Pro2717=) rs758202463 0.00002
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys) rs1469012975 0.00002
NM_001369.3(DNAH5):c.8224+10A>G rs773766189 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.8262T>G (p.Gly2754=) rs1368092713 0.00002
NM_001369.3(DNAH5):c.8332A>C (p.Lys2778Gln) rs750987249 0.00002
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile) rs548585661 0.00002
NM_001369.3(DNAH5):c.8634A>T (p.Ala2878=) rs749428414 0.00002
NM_001369.3(DNAH5):c.8685A>G (p.Lys2895=) rs553405333 0.00002
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys) rs369744828 0.00002
NM_001369.3(DNAH5):c.8772C>T (p.Ala2924=) rs552458966 0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719 0.00002
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=) rs765029802 0.00002
NM_001369.3(DNAH5):c.9129T>C (p.Asp3043=) rs528498959 0.00002
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln) rs752552477 0.00002
NM_001369.3(DNAH5):c.9267G>A (p.Ser3089=) rs774242959 0.00002
NM_001369.3(DNAH5):c.9306C>T (p.Phe3102=) rs773708332 0.00002
NM_001369.3(DNAH5):c.9374-6C>T rs748739795 0.00002
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=) rs543265562 0.00002
NM_001369.3(DNAH5):c.967C>T (p.Leu323=) rs746109550 0.00002
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=) rs373676166 0.00002
NM_001369.3(DNAH5):c.9957C>T (p.Ile3319=) rs766420895 0.00002
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00002
NM_001375405.1(CEP120):c.210A>G (p.Leu70=) rs554875614 0.00002
NM_001375405.1(CEP120):c.42C>T (p.Ile14=) rs374059490 0.00002
NM_001377.3(DYNC2H1):c.10043-9T>C rs374033001 0.00002
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) rs758373368 0.00002
NM_001377.3(DYNC2H1):c.11056T>C (p.Leu3686=) rs986262031 0.00002
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=) rs778092263 0.00002
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444 0.00002
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=) rs769560873 0.00002
NM_001377.3(DYNC2H1):c.12375C>T (p.Leu4125=) rs770385566 0.00002
NM_001377.3(DYNC2H1):c.1309T>G (p.Leu437Val) rs185651613 0.00002
NM_001377.3(DYNC2H1):c.2345+9T>C rs772122634 0.00002
NM_001377.3(DYNC2H1):c.3372C>T (p.Ile1124=) rs774300457 0.00002
NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=) rs776765795 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.4476A>C (p.Leu1492=) rs1392906241 0.00002
NM_001377.3(DYNC2H1):c.4617A>G (p.Leu1539=) rs931664584 0.00002
NM_001377.3(DYNC2H1):c.503-18C>G rs199660214 0.00002
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724 0.00002
NM_001377.3(DYNC2H1):c.5334+14T>G rs748579012 0.00002
NM_001377.3(DYNC2H1):c.5335-15T>A rs774984944 0.00002
NM_001377.3(DYNC2H1):c.5443G>A (p.Val1815Ile) rs186344666 0.00002
NM_001377.3(DYNC2H1):c.7140+8A>G rs768364364 0.00002
NM_001377.3(DYNC2H1):c.7293-16A>G rs1324744988 0.00002
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=) rs770072519 0.00002
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00002
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=) rs762899971 0.00002
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=) rs45630561 0.00002
NM_001378454.1(ALMS1):c.11574C>T (p.Asp3858=) rs561636004 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11703C>T (p.His3901=) rs1221566713 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 0.00002
NM_001378454.1(ALMS1):c.12024G>A (p.Gly4008=) rs758602294 0.00002
NM_001378454.1(ALMS1):c.120A>G (p.Val40=) rs537537228 0.00002
NM_001378454.1(ALMS1):c.12126G>A (p.Gln4042=) rs763332177 0.00002
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.1238-16del rs746989906 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=) rs1411790516 0.00002
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=) rs753222733 0.00002
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.1968G>A (p.Glu656=) rs1040684345 0.00002
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=) rs755847221 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=) rs551541932 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=) rs1427354998 0.00002
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=) rs765275016 0.00002
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773 0.00002
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450 0.00002
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=) rs777970870 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=) rs771791019 0.00002
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=) rs746391155 0.00002
NM_001378454.1(ALMS1):c.3882C>T (p.Ser1294=) rs746658957 0.00002
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=) rs759705921 0.00002
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=) rs761902133 0.00002
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=) rs541180403 0.00002
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249 0.00002
NM_001378454.1(ALMS1):c.450+7C>A rs775200355 0.00002
NM_001378454.1(ALMS1):c.451-20T>C rs762592063 0.00002
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773 0.00002
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=) rs1222275039 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.6231C>A (p.Val2077=) rs748449043 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.6444A>G (p.Pro2148=) rs1220162012 0.00002
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=) rs778927340 0.00002
NM_001378454.1(ALMS1):c.6567C>T (p.Tyr2189=) rs368523556 0.00002
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=) rs1447282271 0.00002
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) rs760756852 0.00002
NM_001378454.1(ALMS1):c.7143T>C (p.Tyr2381=) rs1241546898 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.7281G>A (p.Ser2427=) rs200684911 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369 0.00002
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=) rs767409467 0.00002
NM_001378454.1(ALMS1):c.7710A>C (p.Pro2570=) rs750225944 0.00002
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=) rs13009604 0.00002
NM_001378454.1(ALMS1):c.8040G>T (p.Leu2680=) rs755241265 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.8181C>G (p.Ser2727=) rs747669538 0.00002
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098 0.00002
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=) rs559811855 0.00002
NM_001378454.1(ALMS1):c.8589A>G (p.Leu2863=) rs778918786 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=) rs781138734 0.00002
NM_001378454.1(ALMS1):c.921G>A (p.Gly307=) rs1290857231 0.00002
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=) rs1328459312 0.00002
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=) rs1462656920 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610 0.00002
NM_001378454.1(ALMS1):c.9907+8G>A rs369727166 0.00002
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=) rs780534369 0.00002
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=) rs373742688 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 0.00002
NM_001378615.1(CC2D2A):c.1701C>T (p.Tyr567=) rs769840882 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.1809C>T (p.Pro603=) rs778968413 0.00002
NM_001378615.1(CC2D2A):c.2003+16G>A rs746051826 0.00002
NM_001378615.1(CC2D2A):c.2088A>G (p.Thr696=) rs760615867 0.00002
NM_001378615.1(CC2D2A):c.2286G>A (p.Val762=) rs1204225662 0.00002
NM_001378615.1(CC2D2A):c.2289G>A (p.Glu763=) rs769073033 0.00002
NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=) rs751676654 0.00002
NM_001378615.1(CC2D2A):c.2338+16A>G rs777390329 0.00002
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=) rs754272410 0.00002
NM_001378615.1(CC2D2A):c.2409T>C (p.His803=) rs780868022 0.00002
NM_001378615.1(CC2D2A):c.2626-12C>T rs571780110 0.00002
NM_001378615.1(CC2D2A):c.2830-18G>A rs969121617 0.00002
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr) rs779465688 0.00002
NM_001378615.1(CC2D2A):c.2904A>T (p.Val968=) rs1457559560 0.00002
NM_001378615.1(CC2D2A):c.3014+11T>C rs760477116 0.00002
NM_001378615.1(CC2D2A):c.3015-11G>A rs757678311 0.00002
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861 0.00002
NM_001378615.1(CC2D2A):c.3132G>A (p.Leu1044=) rs929422473 0.00002
NM_001378615.1(CC2D2A):c.3183-17T>C rs961448334 0.00002
NM_001378615.1(CC2D2A):c.3771+11A>C rs955623216 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=) rs777093551 0.00002
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=) rs1415780433 0.00002
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=) rs797045438 0.00002
NM_001382391.1(CSPP1):c.-10-4A>T rs762753703 0.00002
NM_001382391.1(CSPP1):c.-96C>T rs751458139 0.00002
NM_001382391.1(CSPP1):c.1188-16del rs773422166 0.00002
NM_001382391.1(CSPP1):c.1618+16G>A rs768004861 0.00002
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) rs762725926 0.00002
NM_001382391.1(CSPP1):c.2128+10C>A rs769248386 0.00002
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) rs758218835 0.00002
NM_001382391.1(CSPP1):c.2392-14T>C rs781185001 0.00002
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) rs759957152 0.00002
NM_001382391.1(CSPP1):c.2968+10T>C rs374325149 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.483+10G>C rs758310938 0.00002
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) rs1395679668 0.00002
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) rs759906585 0.00002
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) rs750069772 0.00002
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) rs1420586506 0.00002
NM_001384732.1(CPLANE1):c.3508-19A>G rs754906346 0.00002
NM_001384732.1(CPLANE1):c.5738-5G>A rs570312147 0.00002
NM_001481.3(GAS8):c.1095C>T (p.Leu365=) rs368313356 0.00002
NM_001481.3(GAS8):c.288+12C>T rs377597312 0.00002
NM_001481.3(GAS8):c.387A>G (p.Lys129=) rs201010501 0.00002
NM_001481.3(GAS8):c.654G>A (p.Gln218=) rs149327547 0.00002
NM_001481.3(GAS8):c.756+9C>T rs768853242 0.00002
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_003114.5(SPAG1):c.1914C>T (p.Asn638=) rs150646410 0.00002
NM_003114.5(SPAG1):c.489-7A>T rs772048232 0.00002
NM_003114.5(SPAG1):c.940-7G>A rs780727428 0.00002
NM_003611.3(OFD1):c.1542+13C>T rs1253138718 0.00002
NM_003611.3(OFD1):c.2169G>A (p.Ser723=) rs984001995 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 0.00002
NM_003611.3(OFD1):c.2489-11G>A rs766174993 0.00002
NM_003611.3(OFD1):c.2541G>A (p.Gly847=) rs780435482 0.00002
NM_003611.3(OFD1):c.655-13G>C rs753706475 0.00002
NM_003611.3(OFD1):c.816C>T (p.His272=) rs748363967 0.00002
NM_006642.5(SDCCAG8):c.1131A>G (p.Lys377=) rs775394110 0.00002
NM_006642.5(SDCCAG8):c.1449C>T (p.Asn483=) rs962469606 0.00002
NM_006642.5(SDCCAG8):c.207A>G (p.Gln69=) rs200994363 0.00002
NM_006642.5(SDCCAG8):c.63C>T (p.Leu21=) rs763991953 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_006642.5(SDCCAG8):c.929+19G>A rs753008205 0.00002
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=) rs756277063 0.00002
NM_012144.4(DNAI1):c.1344C>T (p.Asn448=) rs780830330 0.00002
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=) rs377601344 0.00002
NM_012144.4(DNAI1):c.1718+10C>T rs538329068 0.00002
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=) rs548602580 0.00002
NM_012144.4(DNAI1):c.174C>T (p.Thr58=) rs752803659 0.00002
NM_012144.4(DNAI1):c.177T>C (p.Asp59=) rs864622665 0.00002
NM_012144.4(DNAI1):c.1818+12C>T rs770963117 0.00002
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) rs565034311 0.00002
NM_012144.4(DNAI1):c.2049G>A (p.Ala683=) rs555612830 0.00002
NM_012144.4(DNAI1):c.2067G>C (p.Leu689=) rs372932017 0.00002
NM_012144.4(DNAI1):c.228C>T (p.His76=) rs760014707 0.00002
NM_012144.4(DNAI1):c.666A>C (p.Ser222=) rs746805669 0.00002
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=) rs142715198 0.00002
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=) rs145728860 0.00002
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 0.00002
NM_012210.4(TRIM32):c.1842G>A (p.Glu614=) rs149509191 0.00002
NM_012210.4(TRIM32):c.1857G>A (p.Pro619=) rs746299779 0.00002
NM_012210.4(TRIM32):c.321G>T (p.Leu107=) rs768844180 0.00002
NM_012210.4(TRIM32):c.543T>C (p.Tyr181=) rs1344038304 0.00002
NM_012210.4(TRIM32):c.603C>T (p.Arg201=) rs767937527 0.00002
NM_012210.4(TRIM32):c.807G>A (p.Leu269=) rs1184553729 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=) rs142575670 0.00002
NM_012472.6(DNAAF11):c.402C>T (p.Phe134=) rs978054244 0.00002
NM_012472.6(DNAAF11):c.837-10C>G rs771690684 0.00002
NM_012472.6(DNAAF11):c.915-19C>T rs200544802 0.00002
NM_014704.4(CEP104):c.2001A>G (p.Gly667=) rs767101698 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1359+10G>A rs765870382 0.00002
NM_014714.4(IFT140):c.1359+15G>A rs371515559 0.00002
NM_014714.4(IFT140):c.156C>T (p.Cys52=) rs759512538 0.00002
NM_014714.4(IFT140):c.1770+13C>T rs750396462 0.00002
NM_014714.4(IFT140):c.1809T>C (p.Asp603=) rs779610741 0.00002
NM_014714.4(IFT140):c.1830C>T (p.Thr610=) rs201049966 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.2109C>T (p.His703=) rs375957506 0.00002
NM_014714.4(IFT140):c.2199+10C>T rs753778878 0.00002
NM_014714.4(IFT140):c.2199+13G>A rs760589428 0.00002
NM_014714.4(IFT140):c.2200-17G>C rs750260483 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2313C>T (p.Ala771=) rs763029487 0.00002
NM_014714.4(IFT140):c.2322C>T (p.Asp774=) rs546631348 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2745C>T (p.Ala915=) rs770674501 0.00002
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) rs575485883 0.00002
NM_014714.4(IFT140):c.2997+9C>G rs1596304034 0.00002
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3270+7G>T rs773532379 0.00002
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=) rs750862050 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.357G>C (p.Leu119=) rs2035838651 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.369+13G>A rs775756737 0.00002
NM_014714.4(IFT140):c.369+14C>T rs766013600 0.00002
NM_014714.4(IFT140):c.423G>A (p.Thr141=) rs769704872 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.600C>T (p.His200=) rs371783984 0.00002
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) rs758547276 0.00002
NM_014714.4(IFT140):c.819G>A (p.Leu273=) rs763445046 0.00002
NM_014714.4(IFT140):c.822C>T (p.Ser274=) rs200604057 0.00002
NM_014714.4(IFT140):c.882C>T (p.Ala294=) rs768675467 0.00002
NM_014956.5(CEP164):c.1191C>G (p.Leu397=) rs763602671 0.00002
NM_014956.5(CEP164):c.1569C>G (p.Ser523=) rs747829353 0.00002
NM_014956.5(CEP164):c.1704C>T (p.Thr568=) rs755780242 0.00002
NM_014956.5(CEP164):c.2196G>A (p.Ser732=) rs139610925 0.00002
NM_014956.5(CEP164):c.2208G>A (p.Glu736=) rs762963600 0.00002
NM_014956.5(CEP164):c.2283+14G>T rs545525973 0.00002
NM_014956.5(CEP164):c.2367C>G (p.Val789=) rs747171653 0.00002
NM_014956.5(CEP164):c.2541T>C (p.His847=) rs947190507 0.00002
NM_014956.5(CEP164):c.2631G>A (p.Arg877=) rs1339335729 0.00002
NM_014956.5(CEP164):c.3217-12A>G rs779406287 0.00002
NM_014956.5(CEP164):c.3246C>T (p.Leu1082=) rs201698235 0.00002
NM_014956.5(CEP164):c.3663C>T (p.Phe1221=) rs150819563 0.00002
NM_014956.5(CEP164):c.3882C>T (p.Leu1294=) rs768274034 0.00002
NM_014956.5(CEP164):c.396C>T (p.Ala132=) rs145551039 0.00002
NM_014956.5(CEP164):c.4023G>A (p.Gly1341=) rs748085058 0.00002
NM_014956.5(CEP164):c.4086G>A (p.Lys1362=) rs200916484 0.00002
NM_014956.5(CEP164):c.4096+18C>T rs533863973 0.00002
NM_014956.5(CEP164):c.510G>A (p.Gly170=) rs145771994 0.00002
NM_014956.5(CEP164):c.552+9G>A rs1278586123 0.00002
NM_014956.5(CEP164):c.714T>G (p.Leu238=) rs745843938 0.00002
NM_014956.5(CEP164):c.762T>C (p.Tyr254=) rs766308731 0.00002
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=) rs753246840 0.00002
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=) rs778962353 0.00002
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=) rs773395675 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=) rs774731949 0.00002
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 0.00002
NM_015272.5(RPGRIP1L):c.231-13A>G rs1030566201 0.00002
NM_015272.5(RPGRIP1L):c.231-15T>G rs762320051 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=) rs758167588 0.00002
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=) rs192512050 0.00002
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=) rs752095514 0.00002
NM_015272.5(RPGRIP1L):c.2875-15G>T rs749908163 0.00002
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=) rs753020103 0.00002
NM_015272.5(RPGRIP1L):c.2958+9T>A rs920679699 0.00002
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=) rs1313737236 0.00002
NM_015272.5(RPGRIP1L):c.3294+13A>G rs756969381 0.00002
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=) rs750716320 0.00002
NM_015272.5(RPGRIP1L):c.529+16C>T rs765320880 0.00002
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=) rs1404574894 0.00002
NM_015272.5(RPGRIP1L):c.882+8G>A rs773501615 0.00002
NM_015512.5(DNAH1):c.10590T>C (p.Cys3530=) rs776583735 0.00002
NM_015512.5(DNAH1):c.11127+7G>A rs1162986888 0.00002
NM_015512.5(DNAH1):c.11361C>T (p.Arg3787=) rs372686964 0.00002
NM_015512.5(DNAH1):c.11748G>A (p.Ser3916=) rs373306491 0.00002
NM_015512.5(DNAH1):c.11959-8C>T rs761685626 0.00002
NM_015512.5(DNAH1):c.1335T>C (p.Tyr445=) rs868394302 0.00002
NM_015512.5(DNAH1):c.1692G>A (p.Ser564=) rs772077602 0.00002
NM_015512.5(DNAH1):c.1803G>A (p.Glu601=) rs201826190 0.00002
NM_015512.5(DNAH1):c.2343G>A (p.Glu781=) rs1339813561 0.00002
NM_015512.5(DNAH1):c.2739C>T (p.Ala913=) rs774502208 0.00002
NM_015512.5(DNAH1):c.3226+16G>A rs772190554 0.00002
NM_015512.5(DNAH1):c.3573C>T (p.Asp1191=) rs541334137 0.00002
NM_015512.5(DNAH1):c.4266+7C>T rs769841245 0.00002
NM_015512.5(DNAH1):c.4521C>T (p.Ile1507=) rs186620563 0.00002
NM_015512.5(DNAH1):c.4571+17C>T rs370224602 0.00002
NM_015512.5(DNAH1):c.5883G>A (p.Thr1961=) rs766264889 0.00002
NM_015512.5(DNAH1):c.6642C>T (p.Asp2214=) rs760029791 0.00002
NM_015512.5(DNAH1):c.738+17C>T rs1173036203 0.00002
NM_015512.5(DNAH1):c.7609-14G>A rs947898553 0.00002
NM_015512.5(DNAH1):c.7653C>G (p.Ile2551Met) rs371803497 0.00002
NM_015512.5(DNAH1):c.7806-8G>T rs1004386370 0.00002
NM_015512.5(DNAH1):c.8610C>T (p.Thr2870=) rs761054590 0.00002
NM_015512.5(DNAH1):c.8640C>T (p.Ile2880=) rs760234205 0.00002
NM_015512.5(DNAH1):c.8748G>A (p.Ala2916=) rs200942259 0.00002
NM_015512.5(DNAH1):c.894G>C (p.Leu298=) rs755391323 0.00002
NM_015512.5(DNAH1):c.9364-17C>T rs150299617 0.00002
NM_015631.6(TCTN3):c.1298+16C>T rs777492522 0.00002
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) rs1026823695 0.00002
NM_015631.6(TCTN3):c.1591-9T>G rs1317879597 0.00002
NM_015631.6(TCTN3):c.889-18G>C rs1254012662 0.00002
NM_015631.6(TCTN3):c.931C>T (p.Leu311=) rs774592467 0.00002
NM_015662.3(IFT172):c.15C>T (p.His5=) rs377627847 0.00002
NM_015662.3(IFT172):c.1638G>A (p.Leu546=) rs372659702 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.183+17T>C rs754011076 0.00002
NM_015662.3(IFT172):c.2194-7T>C rs569757422 0.00002
NM_015662.3(IFT172):c.2667C>T (p.Ala889=) rs753125303 0.00002
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=) rs755900185 0.00002
NM_015662.3(IFT172):c.3229-4A>G rs766026056 0.00002
NM_015662.3(IFT172):c.336+14C>T rs780202491 0.00002
NM_015662.3(IFT172):c.3711+15G>A rs778810233 0.00002
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=) rs768705269 0.00002
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=) rs367670487 0.00002
NM_015662.3(IFT172):c.4051-20G>A rs761286001 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4539+10C>T rs778633701 0.00002
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=) rs371031629 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015662.3(IFT172):c.771A>G (p.Leu257=) rs756245677 0.00002
NM_015662.3(IFT172):c.780T>C (p.Tyr260=) rs752770691 0.00002
NM_015681.6(B9D1):c.108C>T (p.Tyr36=) rs548122561 0.00002
NM_015910.7(WDPCP):c.1671A>G (p.Pro557=) rs202162023 0.00002
NM_015910.7(WDPCP):c.209-5A>G rs750564657 0.00002
NM_015910.7(WDPCP):c.499+9C>T rs746261282 0.00002
NM_015910.7(WDPCP):c.634-12T>A rs779141559 0.00002
NM_015910.7(WDPCP):c.771T>A (p.Ser257=) rs764847886 0.00002
NM_015910.7(WDPCP):c.801G>T (p.Leu267=) rs773061700 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_016616.5(NME8):c.1302C>T (p.Ser434=) rs369550926 0.00002
NM_016616.5(NME8):c.387+16A>C rs1456014799 0.00002
NM_016616.5(NME8):c.387+7C>A rs751058129 0.00002
NM_016616.5(NME8):c.51A>G (p.Gln17=) rs764519450 0.00002
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.1284C>T (p.Thr428=) rs761247194 0.00002
NM_017777.4(MKS1):c.1353C>T (p.Gly451=) rs764549118 0.00002
NM_017777.4(MKS1):c.1392A>T (p.Ile464=) rs1160063124 0.00002
NM_017777.4(MKS1):c.190+12G>A rs1310865080 0.00002
NM_017777.4(MKS1):c.204A>T (p.Pro68=) rs557752726 0.00002
NM_017777.4(MKS1):c.210A>G (p.Glu70=) rs778759498 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.732C>G (p.Gly244=) rs753234130 0.00002
NM_017777.4(MKS1):c.792G>A (p.Thr264=) rs1272905094 0.00002
NM_017777.4(MKS1):c.858+19C>T rs367750788 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_017802.4(DNAAF5):c.1024+13G>A rs773831457 0.00002
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=) rs139756611 0.00002
NM_017802.4(DNAAF5):c.1281C>T (p.Val427=) rs749052581 0.00002
NM_017802.4(DNAAF5):c.1410G>A (p.Pro470=) rs202182894 0.00002
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=) rs368538461 0.00002
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=) rs754316026 0.00002
NM_017802.4(DNAAF5):c.1932-19C>T rs762597761 0.00002
NM_017802.4(DNAAF5):c.2475G>A (p.Val825=) rs762526450 0.00002
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=) rs370588837 0.00002
NM_017802.4(DNAAF5):c.2535G>A (p.Leu845=) rs1326859026 0.00002
NM_017802.4(DNAAF5):c.426C>T (p.Arg142=) rs1464201003 0.00002
NM_017950.4(CCDC40):c.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=) rs758047721 0.00002
NM_017950.4(CCDC40):c.2298C>T (p.His766=) rs754496723 0.00002
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=) rs1225610254 0.00002
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) rs199575834 0.00002
NM_017950.4(CCDC40):c.3021+8G>A rs1434081760 0.00002
NM_017950.4(CCDC40):c.3045C>T (p.Thr1015=) rs1474341938 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.399C>T (p.Ser133=) rs371207249 0.00002
NM_017950.4(CCDC40):c.759C>T (p.Thr253=) rs183808038 0.00002
NM_017950.4(CCDC40):c.831G>A (p.Gln277=) rs771932934 0.00002
NM_018051.5(DYNC2I1):c.1357+13A>G rs752245321 0.00002
NM_018051.5(DYNC2I1):c.490+8C>G rs1045646527 0.00002
NM_018051.5(DYNC2I1):c.846G>T (p.Ser282=) rs1294563167 0.00002
NM_018076.5(ODAD2):c.1677C>T (p.Ile559=) rs182410357 0.00002
NM_018076.5(ODAD2):c.2559C>T (p.Asp853=) rs553264617 0.00002
NM_018139.3(DNAAF2):c.126G>A (p.Glu42=) rs373348391 0.00002
NM_018139.3(DNAAF2):c.168C>T (p.Ile56=) rs768247249 0.00002
NM_018139.3(DNAAF2):c.2196T>C (p.Ser732=) rs753031545 0.00002
NM_018139.3(DNAAF2):c.2313C>T (p.Asn771=) rs749855090 0.00002
NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=) rs201826641 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_018139.3(DNAAF2):c.676T>C (p.Tyr226His) rs566190340 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_019892.6(INPP5E):c.1224C>T (p.Gly408=) rs769914491 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.168C>T (p.Ala56=) rs1334035407 0.00002
NM_019892.6(INPP5E):c.363C>T (p.Pro121=) rs762231724 0.00002
NM_019892.6(INPP5E):c.853T>C (p.Leu285=) rs763694461 0.00002
NM_020779.4(WDR35):c.1410T>C (p.His470=) rs1257210913 0.00002
NM_020779.4(WDR35):c.2643C>T (p.Cys881=) rs776211441 0.00002
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=) rs1295936600 0.00002
NM_020779.4(WDR35):c.339A>G (p.Arg113=) rs750227579 0.00002
NM_020800.3(IFT80):c.1316-4del rs758421505 0.00002
NM_020800.3(IFT80):c.1320C>A (p.Ile440=) rs746090893 0.00002
NM_020800.3(IFT80):c.1381-15T>A rs753249289 0.00002
NM_020800.3(IFT80):c.1665-6del rs747849008 0.00002
NM_021147.5(CCNO):c.210C>T (p.Gly70=) rs373209105 0.00002
NM_023036.6(DNAI2):c.1095C>T (p.Gly365=) rs746037775 0.00002
NM_023036.6(DNAI2):c.1432C>T (p.Leu478=) rs746968131 0.00002
NM_023036.6(DNAI2):c.147G>T (p.Thr49=) rs369017940 0.00002
NM_023036.6(DNAI2):c.1575G>A (p.Ala525=) rs767324607 0.00002
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=) rs376265471 0.00002
NM_023036.6(DNAI2):c.1671C>T (p.Phe557=) rs766594632 0.00002
NM_023036.6(DNAI2):c.21C>T (p.Tyr7=) rs764381446 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.87C>T (p.Ile29=) rs768747332 0.00002
NM_024649.5(BBS1):c.1380C>A (p.Arg460=) rs1167767003 0.00002
NM_024649.5(BBS1):c.1474-19C>T rs755940643 0.00002
NM_024649.5(BBS1):c.1533C>G (p.Thr511=) rs112953332 0.00002
NM_024649.5(BBS1):c.160-10C>G rs202108911 0.00002
NM_024649.5(BBS1):c.1608+7G>A rs776545195 0.00002
NM_024649.5(BBS1):c.1695+9C>T rs756514477 0.00002
NM_024649.5(BBS1):c.21G>T (p.Ser7=) rs745789744 0.00002
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00002
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758 0.00002
NM_024649.5(BBS1):c.47+7G>C rs370342126 0.00002
NM_024649.5(BBS1):c.48-8A>G rs753125999 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 0.00002
NM_024649.5(BBS1):c.724-15G>A rs376386231 0.00002
NM_024649.5(BBS1):c.939C>T (p.Gly313=) rs755023569 0.00002
NM_024649.5(BBS1):c.96C>T (p.Ala32=) rs776061360 0.00002
NM_024685.4(BBS10):c.1041T>C (p.Gly347=) rs747390360 0.00002
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.1215T>G (p.Gly405=) rs751592378 0.00002
NM_024685.4(BBS10):c.1437A>G (p.Ala479=) rs201701959 0.00002
NM_024685.4(BBS10):c.1438T>C (p.Leu480=) rs746529935 0.00002
NM_024685.4(BBS10):c.1527C>G (p.Pro509=) rs762271852 0.00002
NM_024685.4(BBS10):c.1572A>G (p.Thr524=) rs1271927802 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.63G>A (p.Leu21=) rs779366264 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1455A>G (p.Val485=) rs1179957656 0.00002
NM_024753.5(TTC21B):c.2523T>C (p.Tyr841=) rs375125407 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.3039G>A (p.Glu1013=) rs145213653 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.345C>T (p.Gly115=) rs370444063 0.00002
NM_024753.5(TTC21B):c.523G>A (p.Gly175Arg) rs771788049 0.00002
NM_024753.5(TTC21B):c.9G>C (p.Ser3=) rs1186801288 0.00002
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=) rs193008632 0.00002
NM_024809.5(TCTN2):c.191-15G>A rs780792228 0.00002
NM_024809.5(TCTN2):c.210G>T (p.Thr70=) rs1196817536 0.00002
NM_024809.5(TCTN2):c.510T>C (p.Pro170=) rs769707766 0.00002
NM_024809.5(TCTN2):c.642T>C (p.Pro214=) rs747382089 0.00002
NM_024809.5(TCTN2):c.957A>G (p.Lys319=) rs1331215787 0.00002
NM_024809.5(TCTN2):c.978A>G (p.Leu326=) rs921429450 0.00002
NM_025114.4(CEP290):c.1035T>C (p.Ala345=) rs778053081 0.00002
NM_025114.4(CEP290):c.105G>A (p.Val35=) rs371969282 0.00002
NM_025114.4(CEP290):c.1113A>G (p.Val371=) rs370095967 0.00002
NM_025114.4(CEP290):c.1522+17G>C rs1269048571 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.1712-5T>C rs994843668 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 0.00002
NM_025114.4(CEP290):c.2373A>C (p.Leu791=) rs760126835 0.00002
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=) rs911134690 0.00002
NM_025114.4(CEP290):c.3310-9T>C rs752729387 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 0.00002
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=) rs769362204 0.00002
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379 0.00002
NM_025114.4(CEP290):c.4107A>G (p.Lys1369=) rs1380584703 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4314T>G (p.Ala1438=) rs773185972 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.495+17G>T rs181956234 0.00002
NM_025114.4(CEP290):c.5013-7A>C rs762217156 0.00002
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=) rs758459529 0.00002
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_025114.4(CEP290):c.5709+10G>A rs1019366465 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6135+7G>A rs772383636 0.00002
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.6522+6_6522+7insA rs748258476 0.00002
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=) rs759956779 0.00002
NM_025114.4(CEP290):c.6818+9A>G rs748162184 0.00002
NM_025114.4(CEP290):c.735G>A (p.Glu245=) rs917730125 0.00002
NM_025114.4(CEP290):c.943-18T>C rs754330511 0.00002
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.1875A>G (p.Gly625=) rs998510920 0.00002
NM_025132.4(WDR19):c.228T>C (p.Ser76=) rs772445156 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.3246C>T (p.Asn1082=) rs754161203 0.00002
NM_025132.4(WDR19):c.3369G>A (p.Arg1123=) rs775035034 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.3585G>A (p.Thr1195=) rs537597265 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.3804T>C (p.Pro1268=) rs761793151 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.406+12C>T rs781438702 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_025132.4(WDR19):c.916T>C (p.Leu306=) rs757561646 0.00002
NM_025132.4(WDR19):c.98+10C>T rs746441289 0.00002
NM_025132.4(WDR19):c.99-12G>C rs556356193 0.00002
NM_031427.4(DNAL1):c.4-4A>T rs576147534 0.00002
NM_031885.5(BBS2):c.1225+17A>G rs1444102830 0.00002
NM_031885.5(BBS2):c.1456C>T (p.Leu486=) rs780493609 0.00002
NM_031885.5(BBS2):c.1458G>A (p.Leu486=) rs756379392 0.00002
NM_031885.5(BBS2):c.1470C>T (p.Asp490=) rs370024579 0.00002
NM_031885.5(BBS2):c.1851T>C (p.His617=) rs1259765246 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.2016C>G (p.Leu672=) rs768160656 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.613-12A>G rs900817907 0.00002
NM_031885.5(BBS2):c.657T>C (p.Tyr219=) rs139106996 0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 0.00002
NM_031885.5(BBS2):c.91C>T (p.Leu31=) rs373185970 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_031924.8(RSPH3):c.-136C>T rs549752682 0.00002
NM_031924.8(RSPH3):c.-76C>T rs369850196 0.00002
NM_031924.8(RSPH3):c.72A>G (p.Ala24=) rs755403479 0.00002
NM_033028.5(BBS4):c.12G>A (p.Glu4=) rs543735239 0.00002
NM_033028.5(BBS4):c.1443C>T (p.Leu481=) rs748092163 0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=) rs754709708 0.00002
NM_033028.5(BBS4):c.25-18C>T rs140934493 0.00002
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102 0.00002
NM_033124.5(CCDC65):c.51G>A (p.Gln17=) rs377353499 0.00002
NM_052844.4(DYNC2I2):c.1215-9C>T rs1038091645 0.00002
NM_052844.4(DYNC2I2):c.1377C>T (p.Asp459=) rs1005115532 0.00002
NM_052844.4(DYNC2I2):c.639G>C (p.Val213=) rs992323389 0.00002
NM_052844.4(DYNC2I2):c.982-20C>A rs377054600 0.00002
NM_080860.4(RSPH1):c.398C>T (p.Thr133Met) rs529237191 0.00002
NM_080860.4(RSPH1):c.399G>A (p.Thr133=) rs760016966 0.00002
NM_080860.4(RSPH1):c.798T>C (p.Pro266=) rs577891231 0.00002
NM_144596.4(TTC8):c.372G>A (p.Arg124=) rs762722585 0.00002
NM_144596.4(TTC8):c.432C>T (p.Thr144=) rs748561167 0.00002
NM_144596.4(TTC8):c.625-12T>C rs372412832 0.00002
NM_144596.4(TTC8):c.642C>G (p.Ala214=) rs141305911 0.00002
NM_144596.4(TTC8):c.753C>T (p.Ala251=) rs367897453 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_145038.5(DRC1):c.1028+20G>A rs766939128 0.00002
NM_145038.5(DRC1):c.1776G>A (p.Thr592=) rs750675673 0.00002
NM_145038.5(DRC1):c.1977G>A (p.Ser659=) rs368854171 0.00002
NM_145038.5(DRC1):c.561C>T (p.Asp187=) rs147573624 0.00002
NM_145038.5(DRC1):c.87C>T (p.Ser29=) rs768704103 0.00002
NM_145045.5(ODAD3):c.244+19G>A rs746455098 0.00002
NM_145045.5(ODAD3):c.717C>T (p.Asp239=) rs767800003 0.00002
NM_145045.5(ODAD3):c.841-9G>A rs529328828 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00002
NM_147127.5(EVC2):c.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340 0.00002
NM_152384.3(BBS5):c.619-9T>C rs755143488 0.00002
NM_152384.3(BBS5):c.786A>C (p.Ile262=) rs769669565 0.00002
NM_152384.3(BBS5):c.792A>T (p.Gly264=) rs773030426 0.00002
NM_152384.3(BBS5):c.925-15C>T rs776117757 0.00002
NM_152384.3(BBS5):c.979T>C (p.Leu327=) rs371959839 0.00002
NM_152618.3(BBS12):c.1101C>T (p.Tyr367=) rs775552494 0.00002
NM_152618.3(BBS12):c.1108C>T (p.Leu370=) rs777279530 0.00002
NM_152618.3(BBS12):c.1455C>T (p.Asn485=) rs769369013 0.00002
NM_152618.3(BBS12):c.1524T>C (p.Val508=) rs1404842497 0.00002
NM_152618.3(BBS12):c.1662A>G (p.Ala554=) rs1424604685 0.00002
NM_152618.3(BBS12):c.1830A>G (p.Ser610=) rs528535207 0.00002
NM_152618.3(BBS12):c.1845C>G (p.Ala615=) rs773424236 0.00002
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366 0.00002
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440 0.00002
NM_152618.3(BBS12):c.879A>G (p.Gln293=) rs981575853 0.00002
NM_152732.5(RSPH9):c.18C>G (p.Leu6=) rs768726027 0.00002
NM_152732.5(RSPH9):c.798C>T (p.Gly266=) rs770913202 0.00002
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=) rs767820112 0.00002
NM_153704.6(TMEM67):c.1860+19G>A rs373634556 0.00002
NM_153704.6(TMEM67):c.1961-20C>A rs150209047 0.00002
NM_153704.6(TMEM67):c.237A>G (p.Val79=) rs772881100 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.312+19A>T rs777205068 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_170784.3(MKKS):c.282C>T (p.Phe94=) rs769886552 0.00002
NM_170784.3(MKKS):c.297C>T (p.Cys99=) rs748395304 0.00002
NM_170784.3(MKKS):c.429C>T (p.Asp143=) rs760963161 0.00002
NM_170784.3(MKKS):c.432T>C (p.Phe144=) rs1183097312 0.00002
NM_176824.3(BBS7):c.1191C>T (p.Ile397=) rs144483021 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1677-12T>C rs1169349356 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_176824.3(BBS7):c.1869G>A (p.Val623=) rs769405089 0.00002
NM_176824.3(BBS7):c.718+12A>G rs774687060 0.00002
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=) rs773473941 0.00002
NM_178452.6(DNAAF1):c.1645-9C>A rs775351767 0.00002
NM_178452.6(DNAAF1):c.2065+8C>T rs761990499 0.00002
NM_178452.6(DNAAF1):c.2106C>T (p.Val702=) rs765561180 0.00002
NM_178452.6(DNAAF1):c.598T>C (p.Leu200=) rs776685379 0.00002
NM_181426.2(CCDC39):c.1035-10C>A rs763268079 0.00002
NM_181426.2(CCDC39):c.1065A>C (p.Ile355=) rs200840073 0.00002
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=) rs1196118420 0.00002
NM_181426.2(CCDC39):c.610-15C>T rs184123763 0.00002
NM_181426.2(CCDC39):c.993T>C (p.Asn331=) rs867488884 0.00002
NM_198428.3(BBS9):c.102A>T (p.Gly34=) rs753601080 0.00002
NM_198428.3(BBS9):c.1553-17T>A rs1297146159 0.00002
NM_198428.3(BBS9):c.2445C>G (p.Leu815=) rs758338410 0.00002
NM_198428.3(BBS9):c.249A>T (p.Val83=) rs377626008 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00002
NM_198525.3(KIF7):c.1083C>G (p.Ala361=) rs762513139 0.00002
NM_198525.3(KIF7):c.1618C>T (p.Leu540=) rs1401186589 0.00002
NM_198525.3(KIF7):c.1641C>G (p.Gly547=) rs762180295 0.00002
NM_198525.3(KIF7):c.165T>C (p.Phe55=) rs1011116318 0.00002
NM_198525.3(KIF7):c.1719C>T (p.Ala573=) rs549965313 0.00002
NM_198525.3(KIF7):c.1922+18C>T rs751154407 0.00002
NM_198525.3(KIF7):c.2451T>C (p.Ser817=) rs200055380 0.00002
NM_198525.3(KIF7):c.2602C>T (p.Leu868=) rs151090897 0.00002
NM_198525.3(KIF7):c.2796G>T (p.Leu932=) rs1474183051 0.00002
NM_198525.3(KIF7):c.279T>C (p.Tyr93=) rs918495590 0.00002
NM_198525.3(KIF7):c.3075C>T (p.Asp1025=) rs141683648 0.00002
NM_198525.3(KIF7):c.3112-4G>A rs1411133526 0.00002
NM_198525.3(KIF7):c.3363C>T (p.Phe1121=) rs904688190 0.00002
NM_198525.3(KIF7):c.3405G>A (p.Val1135=) rs1378035170 0.00002
NM_198525.3(KIF7):c.3517+11C>T rs775234498 0.00002
NM_198525.3(KIF7):c.3645C>T (p.Asn1215=) rs201642543 0.00002
NM_198525.3(KIF7):c.3846G>A (p.Leu1282=) rs772244933 0.00002
NM_198525.3(KIF7):c.3975G>A (p.Arg1325=) rs1192796098 0.00002
NM_198525.3(KIF7):c.636C>T (p.His212=) rs566303918 0.00002
NM_000328.3(RPGR):c.1909C>G (p.His637Asp) rs1386160264 0.00001
NM_000328.3(RPGR):c.2304G>A (p.Pro768=) rs781426804 0.00001
NM_001009894.3(RLIG1):c.*997T>A rs2033257006 0.00001
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001010892.3(RSPH4A):c.1488C>T (p.His496=) rs367598099 0.00001
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00001
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=) rs376516018 0.00001
NM_001010892.3(RSPH4A):c.1798+10C>T rs376023642 0.00001
NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=) rs755522050 0.00001
NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=) rs532331878 0.00001
NM_001010892.3(RSPH4A):c.540T>C (p.Val180=) rs754223456 0.00001
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) rs752300778 0.00001
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_001034853.2(RPGR):c.1437C>G (p.Thr479=) rs1048927882 0.00001
NM_001034853.2(RPGR):c.1524G>A (p.Leu508=) rs1044418804 0.00001
NM_001034853.2(RPGR):c.1590G>A (p.Gly530=) rs375288851 0.00001
NM_001034853.2(RPGR):c.1754-9G>A rs762495217 0.00001
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001034853.2(RPGR):c.247+8A>G rs1290611493 0.00001
NM_001034853.2(RPGR):c.248-8A>G rs775563204 0.00001
NM_001034853.2(RPGR):c.619+8A>G rs1230328335 0.00001
NM_001034853.2(RPGR):c.620-16A>G rs1235442896 0.00001
NM_001034853.2(RPGR):c.858C>T (p.Pro286=) rs1387222365 0.00001
NM_001034853.2(RPGR):c.969C>T (p.Arg323=) rs1308025811 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=) rs1195048348 0.00001
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=) rs746097128 0.00001
NM_001082538.3(TCTN1):c.1332-17C>A rs763909645 0.00001
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=) rs2067208566 0.00001
NM_001082538.3(TCTN1):c.1467C>T (p.His489=) rs748187759 0.00001
NM_001082538.3(TCTN1):c.1636-5T>C rs1250840241 0.00001
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=) rs1248295755 0.00001
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=) rs777278093 0.00001
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=) rs1228988444 0.00001
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=) rs199654159 0.00001
NM_001082538.3(TCTN1):c.473-9A>T rs766470328 0.00001
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=) rs758668268 0.00001
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=) rs779892252 0.00001
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=) rs776715588 0.00001
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429 0.00001
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=) rs200574241 0.00001
NM_001082538.3(TCTN1):c.823-4C>G rs754017886 0.00001
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784 0.00001
NM_001082538.3(TCTN1):c.858T>G (p.Val286=) rs770733945 0.00001
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=) rs748696458 0.00001
NM_001082538.3(TCTN1):c.978+10G>A rs557580380 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001134831.2(AHI1):c.11-19A>G rs945855139 0.00001
NM_001134831.2(AHI1):c.1345-18C>A rs1418817424 0.00001
NM_001134831.2(AHI1):c.136-9C>T rs780414647 0.00001
NM_001134831.2(AHI1):c.1362C>T (p.Ser454=) rs760276355 0.00001
NM_001134831.2(AHI1):c.1452C>A (p.Ala484=) rs758676596 0.00001
NM_001134831.2(AHI1):c.1558A>G (p.Lys520Glu) rs751011125 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1701T>C (p.His567=) rs1787360423 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1725A>G (p.Glu575=) rs759747091 0.00001
NM_001134831.2(AHI1):c.186T>C (p.Asp62=) rs1485284078 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.192C>T (p.Pro64=) rs776796882 0.00001
NM_001134831.2(AHI1):c.1932A>G (p.Gly644=) rs1249895131 0.00001
NM_001134831.2(AHI1):c.2052A>G (p.Glu684=) rs776429465 0.00001
NM_001134831.2(AHI1):c.2172A>G (p.Ile724Met) rs547837278 0.00001
NM_001134831.2(AHI1):c.2266+9G>A rs762842225 0.00001
NM_001134831.2(AHI1):c.2267-19A>T rs971512231 0.00001
NM_001134831.2(AHI1):c.2374-9T>A rs1434974004 0.00001
NM_001134831.2(AHI1):c.2388T>G (p.Thr796=) rs1242947963 0.00001
NM_001134831.2(AHI1):c.2492+19T>C rs1406778075 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.2989-7A>G rs957458736 0.00001
NM_001134831.2(AHI1):c.3110-13T>C rs751738538 0.00001
NM_001134831.2(AHI1):c.3110-15G>A rs755282785 0.00001
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=) rs143485622 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.3328+14T>C rs41287052 0.00001
NM_001134831.2(AHI1):c.3328+17C>G rs756947602 0.00001
NM_001134831.2(AHI1):c.3330A>G (p.Thr1110=) rs773514922 0.00001
NM_001134831.2(AHI1):c.3381C>T (p.Ser1127=) rs375647379 0.00001
NM_001134831.2(AHI1):c.3498A>G (p.Arg1166=) rs746858024 0.00001
NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=) rs759877397 0.00001
NM_001134831.2(AHI1):c.420C>T (p.Asp140=) rs1790716581 0.00001
NM_001134831.2(AHI1):c.456T>C (p.Ser152=) rs1488249011 0.00001
NM_001134831.2(AHI1):c.636G>A (p.Leu212=) rs1790674290 0.00001
NM_001134831.2(AHI1):c.645G>A (p.Gln215=) rs1211023912 0.00001
NM_001134831.2(AHI1):c.873C>T (p.Asp291=) rs1050617914 0.00001
NM_001134831.2(AHI1):c.960T>C (p.Gly320=) rs756756153 0.00001
NM_001173990.3(TMEM216):c.114A>G (p.Glu38=) rs1425619800 0.00001
NM_001173990.3(TMEM216):c.136+14G>C rs1397702234 0.00001
NM_001173990.3(TMEM216):c.136+17G>A rs1444099043 0.00001
NM_001173990.3(TMEM216):c.137-11T>C rs746269193 0.00001
NM_001173990.3(TMEM216):c.137-6T>C rs772304194 0.00001
NM_001173990.3(TMEM216):c.165C>T (p.Asn55=) rs1858736498 0.00001
NM_001173990.3(TMEM216):c.192C>T (p.Leu64=) rs1314015576 0.00001
NM_001173990.3(TMEM216):c.220C>T (p.Leu74=) rs190914241 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.34+12G>C rs1336106190 0.00001
NM_001173990.3(TMEM216):c.34+8T>C rs1359736540 0.00001
NM_001173990.3(TMEM216):c.408G>T (p.Val136=) rs911000618 0.00001
NM_001173990.3(TMEM216):c.431+20A>G rs371261722 0.00001
NM_001173990.3(TMEM216):c.69G>C (p.Leu23=) rs1219199960 0.00001
NM_001173990.3(TMEM216):c.84G>C (p.Gly28=) rs1237830618 0.00001
NM_001174150.2(ARL13B):c.1024+10C>G rs568052715 0.00001
NM_001174150.2(ARL13B):c.1029T>C (p.Asn343=) rs746493443 0.00001
NM_001174150.2(ARL13B):c.1119G>A (p.Thr373=) rs746618270 0.00001
NM_001174150.2(ARL13B):c.1142-12C>A rs201429461 0.00001
NM_001174150.2(ARL13B):c.1210+11A>C rs373224518 0.00001
NM_001174150.2(ARL13B):c.1210+8A>G rs1397333712 0.00001
NM_001174150.2(ARL13B):c.380+19A>T rs1016476537 0.00001
NM_001174150.2(ARL13B):c.486+8T>G rs750515411 0.00001
NM_001174150.2(ARL13B):c.487-9C>A rs1394028422 0.00001
NM_001174150.2(ARL13B):c.507G>A (p.Ser169=) rs199847439 0.00001
NM_001174150.2(ARL13B):c.59+14A>G rs762514257 0.00001
NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys) rs555792435 0.00001
NM_001174150.2(ARL13B):c.689+13A>T rs750183691 0.00001
NM_001174150.2(ARL13B):c.699T>C (p.Asn233=) rs760352687 0.00001
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300 0.00001
NM_001174150.2(ARL13B):c.798+9G>A rs757716671 0.00001
NM_001174150.2(ARL13B):c.822G>A (p.Glu274=) rs547842227 0.00001
NM_001174150.2(ARL13B):c.846A>G (p.Lys282=) rs769736361 0.00001
NM_001190787.3(MCIDAS):c.121-7C>T rs557532764 0.00001
NM_001190787.3(MCIDAS):c.218-16C>G rs1016989420 0.00001
NM_001190787.3(MCIDAS):c.21C>G (p.Gly7=) rs1325394303 0.00001
NM_001190787.3(MCIDAS):c.228C>T (p.Thr76=) rs892066931 0.00001
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=) rs1377331198 0.00001
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=) rs997588146 0.00001
NM_001190787.3(MCIDAS):c.606+17G>A rs1048243355 0.00001
NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=) rs1420024900 0.00001
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=) rs1299808054 0.00001
NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=) rs1256781616 0.00001
NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His) rs757280816 0.00001
NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=) rs1047248559 0.00001
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=) rs767511014 0.00001
NM_001199397.3(NEK1):c.1305A>G (p.Ser435=) rs765909757 0.00001
NM_001199397.3(NEK1):c.1335T>C (p.His445=) rs776957816 0.00001
NM_001199397.3(NEK1):c.1356A>G (p.Gln452=) rs529848109 0.00001
NM_001199397.3(NEK1):c.1430+9A>G rs762293665 0.00001
NM_001199397.3(NEK1):c.1875G>A (p.Glu625=) rs777616611 0.00001
NM_001199397.3(NEK1):c.1912-18A>C rs766962190 0.00001
NM_001199397.3(NEK1):c.2068G>A (p.Gly690Ser) rs754295018 0.00001
NM_001199397.3(NEK1):c.2085G>A (p.Lys695=) rs1439761503 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) rs752582295 0.00001
NM_001199397.3(NEK1):c.2562A>C (p.Leu854=) rs773387212 0.00001
NM_001199397.3(NEK1):c.264G>A (p.Leu88=) rs780568580 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001199397.3(NEK1):c.3054G>C (p.Val1018=) rs142337223 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3240A>G (p.Ser1080=) rs772027178 0.00001
NM_001199397.3(NEK1):c.3354A>C (p.Gly1118=) rs758692344 0.00001
NM_001199397.3(NEK1):c.3375-12T>C rs1369688897 0.00001
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001199397.3(NEK1):c.3583+19G>A rs779325354 0.00001
NM_001199397.3(NEK1):c.468T>C (p.Thr156=) rs774944690 0.00001
NM_001199397.3(NEK1):c.552-13T>C rs1350487916 0.00001
NM_001199397.3(NEK1):c.807+16T>C rs918992197 0.00001
NM_001199397.3(NEK1):c.807+8C>A rs1240742692 0.00001
NM_001199397.3(NEK1):c.868+20A>G rs992277540 0.00001
NM_001199397.3(NEK1):c.87G>A (p.Gln29=) rs1018152335 0.00001
NM_001199397.3(NEK1):c.937G>A (p.Ala313Thr) rs775516158 0.00001
NM_001206927.2(DNAH8):c.102G>A (p.Pro34=) rs767245332 0.00001
NM_001206927.2(DNAH8):c.10663-6C>A rs757221950 0.00001
NM_001206927.2(DNAH8):c.10707C>T (p.Ala3569=) rs201956190 0.00001
NM_001206927.2(DNAH8):c.10790+4G>A rs571129029 0.00001
NM_001206927.2(DNAH8):c.11119-12C>A rs370228349 0.00001
NM_001206927.2(DNAH8):c.11208A>G (p.Glu3736=) rs751241140 0.00001
NM_001206927.2(DNAH8):c.11403A>G (p.Thr3801=) rs1201651090 0.00001
NM_001206927.2(DNAH8):c.114A>G (p.Thr38=) rs543402162 0.00001
NM_001206927.2(DNAH8):c.11604A>C (p.Arg3868=) rs775507408 0.00001
NM_001206927.2(DNAH8):c.1167A>G (p.Pro389=) rs1254302655 0.00001
NM_001206927.2(DNAH8):c.11910C>T (p.Tyr3970=) rs372031053 0.00001
NM_001206927.2(DNAH8):c.120G>A (p.Glu40=) rs1248099376 0.00001
NM_001206927.2(DNAH8):c.12459A>G (p.Arg4153=) rs1278488176 0.00001
NM_001206927.2(DNAH8):c.12480A>C (p.Gly4160=) rs747928749 0.00001
NM_001206927.2(DNAH8):c.12609C>T (p.Ala4203=) rs1405669084 0.00001
NM_001206927.2(DNAH8):c.12759C>T (p.Asp4253=) rs1487747795 0.00001
NM_001206927.2(DNAH8):c.12834+8C>T rs768834028 0.00001
NM_001206927.2(DNAH8):c.12843A>G (p.Arg4281=) rs184252142 0.00001
NM_001206927.2(DNAH8):c.12906T>C (p.Ser4302=) rs759351858 0.00001
NM_001206927.2(DNAH8):c.12912G>A (p.Gln4304=) rs1442325899 0.00001
NM_001206927.2(DNAH8):c.1293+14T>C rs1227020243 0.00001
NM_001206927.2(DNAH8):c.13053+9A>G rs775870826 0.00001
NM_001206927.2(DNAH8):c.13467C>G (p.Leu4489=) rs770586900 0.00001
NM_001206927.2(DNAH8):c.13524+9T>G rs1316465389 0.00001
NM_001206927.2(DNAH8):c.1360T>C (p.Leu454=) rs745600456 0.00001
NM_001206927.2(DNAH8):c.13674G>A (p.Arg4558=) rs763105332 0.00001
NM_001206927.2(DNAH8):c.1491G>A (p.Glu497=) rs749972728 0.00001
NM_001206927.2(DNAH8):c.1618-13A>G rs567349049 0.00001
NM_001206927.2(DNAH8):c.1704T>C (p.Phe568=) rs773683890 0.00001
NM_001206927.2(DNAH8):c.1824A>G (p.Glu608=) rs768278758 0.00001
NM_001206927.2(DNAH8):c.2031A>G (p.Leu677=) rs1385926341 0.00001
NM_001206927.2(DNAH8):c.210G>A (p.Gly70=) rs1462801040 0.00001
NM_001206927.2(DNAH8):c.2202A>G (p.Lys734=) rs372312350 0.00001
NM_001206927.2(DNAH8):c.2395+9A>G rs756644206 0.00001
NM_001206927.2(DNAH8):c.2396-19_2396-18dup rs757413994 0.00001
NM_001206927.2(DNAH8):c.2443C>T (p.Leu815=) rs201728691 0.00001
NM_001206927.2(DNAH8):c.2583+9G>A rs1418651674 0.00001
NM_001206927.2(DNAH8):c.2584-10C>T rs375358161 0.00001
NM_001206927.2(DNAH8):c.2708C>T (p.Ser903Leu) rs569365870 0.00001
NM_001206927.2(DNAH8):c.2719C>T (p.Leu907=) rs1060504238 0.00001
NM_001206927.2(DNAH8):c.2910A>G (p.Thr970=) rs1361594978 0.00001
NM_001206927.2(DNAH8):c.3035-15G>A rs779326611 0.00001
NM_001206927.2(DNAH8):c.3183T>C (p.His1061=) rs751347468 0.00001
NM_001206927.2(DNAH8):c.3333+18C>T rs768718204 0.00001
NM_001206927.2(DNAH8):c.4224A>G (p.Pro1408=) rs778459478 0.00001
NM_001206927.2(DNAH8):c.4749C>T (p.Ser1583=) rs749021658 0.00001
NM_001206927.2(DNAH8):c.5200-8A>G rs1432085977 0.00001
NM_001206927.2(DNAH8):c.5211T>G (p.Arg1737=) rs765017671 0.00001
NM_001206927.2(DNAH8):c.5694A>G (p.Gly1898=) rs747442455 0.00001
NM_001206927.2(DNAH8):c.5931G>A (p.Val1977=) rs1358279971 0.00001
NM_001206927.2(DNAH8):c.6012A>G (p.Arg2004=) rs769654987 0.00001
NM_001206927.2(DNAH8):c.6654C>T (p.Tyr2218=) rs551682867 0.00001
NM_001206927.2(DNAH8):c.6726G>A (p.Leu2242=) rs878854275 0.00001
NM_001206927.2(DNAH8):c.684G>A (p.Pro228=) rs202079713 0.00001
NM_001206927.2(DNAH8):c.691C>T (p.Leu231=) rs757197800 0.00001
NM_001206927.2(DNAH8):c.6G>A (p.Glu2=) rs774924483 0.00001
NM_001206927.2(DNAH8):c.7329G>T (p.Thr2443=) rs114719419 0.00001
NM_001206927.2(DNAH8):c.7920G>A (p.Pro2640=) rs751198406 0.00001
NM_001206927.2(DNAH8):c.792G>A (p.Ser264=) rs757017716 0.00001
NM_001206927.2(DNAH8):c.8136+10A>G rs1393379862 0.00001
NM_001206927.2(DNAH8):c.8137-8C>G rs1430799915 0.00001
NM_001206927.2(DNAH8):c.8474-20C>G rs749389050 0.00001
NM_001206927.2(DNAH8):c.9194+16A>G rs1359954070 0.00001
NM_001206927.2(DNAH8):c.9714A>C (p.Ser3238=) rs752620022 0.00001
NM_001206927.2(DNAH8):c.9906T>G (p.Ser3302=) rs1240149198 0.00001
NM_001256715.2(DNAAF3):c.-59C>T rs376972065 0.00001
NM_001256715.2(DNAAF3):c.1131C>T (p.Asn377=) rs368717048 0.00001
NM_001256715.2(DNAAF3):c.1209C>T (p.Pro403=) rs373798404 0.00001
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=) rs759571188 0.00001
NM_001256715.2(DNAAF3):c.159C>T (p.Gly53=) rs529300481 0.00001
NM_001256715.2(DNAAF3):c.322+17C>T rs200093913 0.00001
NM_001256715.2(DNAAF3):c.372G>A (p.Pro124=) rs1048936417 0.00001
NM_001256715.2(DNAAF3):c.609C>T (p.Asp203=) rs750637503 0.00001
NM_001256715.2(DNAAF3):c.664-17C>G rs1003385260 0.00001
NM_001256715.2(DNAAF3):c.927C>T (p.Ile309=) rs191818542 0.00001
NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile) rs545243133 0.00001
NM_001277115.2(DNAH11):c.1002T>C (p.Asp334=) rs370925563 0.00001
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr) rs756499246 0.00001
NM_001277115.2(DNAH11):c.10161G>A (p.Glu3387=) rs1060504816 0.00001
NM_001277115.2(DNAH11):c.10252G>T (p.Val3418Leu) rs771057807 0.00001
NM_001277115.2(DNAH11):c.10419G>T (p.Leu3473=) rs1460402546 0.00001
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys) rs727502969 0.00001
NM_001277115.2(DNAH11):c.10473C>G (p.Arg3491=) rs373124847 0.00001
NM_001277115.2(DNAH11):c.10481T>C (p.Leu3494Pro) rs747354470 0.00001
NM_001277115.2(DNAH11):c.10591G>A (p.Ala3531Thr) rs1045314694 0.00001
NM_001277115.2(DNAH11):c.10836A>G (p.Leu3612=) rs966613143 0.00001
NM_001277115.2(DNAH11):c.10841C>A (p.Ala3614Asp) rs747186804 0.00001
NM_001277115.2(DNAH11):c.10932T>C (p.Ile3644=) rs763919077 0.00001
NM_001277115.2(DNAH11):c.11061+10G>A rs755667405 0.00001
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys) rs1262229619 0.00001
NM_001277115.2(DNAH11):c.11181C>A (p.Pro3727=) rs1307164299 0.00001
NM_001277115.2(DNAH11):c.11421G>A (p.Leu3807=) rs1783198728 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.11650C>G (p.Leu3884Val) rs748676766 0.00001
NM_001277115.2(DNAH11):c.11747T>C (p.Leu3916Ser) rs538666182 0.00001
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=) rs774332996 0.00001
NM_001277115.2(DNAH11):c.11883T>C (p.Asn3961=) rs1458288272 0.00001
NM_001277115.2(DNAH11):c.11968-9A>C rs1018931263 0.00001
NM_001277115.2(DNAH11):c.1203T>C (p.Ala401=) rs781498100 0.00001
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=) rs537127251 0.00001
NM_001277115.2(DNAH11):c.12108A>G (p.Gly4036=) rs750427824 0.00001
NM_001277115.2(DNAH11):c.12196-4C>A rs772933789 0.00001
NM_001277115.2(DNAH11):c.12250C>G (p.Leu4084Val) rs878854437 0.00001
NM_001277115.2(DNAH11):c.12501A>T (p.Pro4167=) rs1400685210 0.00001
NM_001277115.2(DNAH11):c.12508-14C>T rs886038457 0.00001
NM_001277115.2(DNAH11):c.12546C>T (p.Ala4182=) rs777625877 0.00001
NM_001277115.2(DNAH11):c.12548C>T (p.Pro4183Leu) rs746934962 0.00001
NM_001277115.2(DNAH11):c.12616C>A (p.Leu4206Met) rs777004813 0.00001
NM_001277115.2(DNAH11):c.12672T>C (p.Thr4224=) rs772085365 0.00001
NM_001277115.2(DNAH11):c.12735G>A (p.Gln4245=) rs1396708463 0.00001
NM_001277115.2(DNAH11):c.12741A>C (p.Thr4247=) rs777902021 0.00001
NM_001277115.2(DNAH11):c.12819A>G (p.Gln4273=) rs747797186 0.00001
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=) rs545264816 0.00001
NM_001277115.2(DNAH11):c.13107C>T (p.Thr4369=) rs777694425 0.00001
NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu) rs1238638659 0.00001
NM_001277115.2(DNAH11):c.13143C>T (p.Asn4381=) rs758419340 0.00001
NM_001277115.2(DNAH11):c.13278A>T (p.Ala4426=) rs773266815 0.00001
NM_001277115.2(DNAH11):c.1459C>G (p.Leu487Val) rs759291863 0.00001
NM_001277115.2(DNAH11):c.1468C>T (p.Leu490=) rs758448845 0.00001
NM_001277115.2(DNAH11):c.1515C>T (p.His505=) rs773061951 0.00001
NM_001277115.2(DNAH11):c.1677C>T (p.Phe559=) rs771371993 0.00001
NM_001277115.2(DNAH11):c.1719C>A (p.Thr573=) rs749092321 0.00001
NM_001277115.2(DNAH11):c.1773T>C (p.His591=) rs1325191043 0.00001
NM_001277115.2(DNAH11):c.1788G>A (p.Val596=) rs976690309 0.00001
NM_001277115.2(DNAH11):c.1833T>C (p.Asn611=) rs763330132 0.00001
NM_001277115.2(DNAH11):c.1974-4A>G rs774225092 0.00001
NM_001277115.2(DNAH11):c.1995C>T (p.His665=) rs752831166 0.00001
NM_001277115.2(DNAH11):c.2013G>A (p.Lys671=) rs752070111 0.00001
NM_001277115.2(DNAH11):c.2077A>T (p.Asn693Tyr) rs377237884 0.00001
NM_001277115.2(DNAH11):c.2100C>T (p.Phe700=) rs756374306 0.00001
NM_001277115.2(DNAH11):c.2115C>G (p.Pro705=) rs777633639 0.00001
NM_001277115.2(DNAH11):c.2170-10A>T rs762557236 0.00001
NM_001277115.2(DNAH11):c.2256A>G (p.Lys752=) rs775806737 0.00001
NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val) rs768205792 0.00001
NM_001277115.2(DNAH11):c.2379C>T (p.Asp793=) rs375262840 0.00001
NM_001277115.2(DNAH11):c.2409G>A (p.Leu803=) rs1048426613 0.00001
NM_001277115.2(DNAH11):c.2485C>T (p.Arg829Cys) rs767607595 0.00001
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu) rs1427132712 0.00001
NM_001277115.2(DNAH11):c.2664C>T (p.Val888=) rs757649943 0.00001
NM_001277115.2(DNAH11):c.2697C>T (p.Pro899=) rs1166219486 0.00001
NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val) rs543944909 0.00001
NM_001277115.2(DNAH11):c.2857C>G (p.Pro953Ala) rs1055453070 0.00001
NM_001277115.2(DNAH11):c.285A>G (p.Glu95=) rs1782669287 0.00001
NM_001277115.2(DNAH11):c.2871T>G (p.Phe957Leu) rs567299074 0.00001
NM_001277115.2(DNAH11):c.3000+13T>C rs1359567923 0.00001
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg) rs949130021 0.00001
NM_001277115.2(DNAH11):c.3117C>T (p.Tyr1039=) rs760622693 0.00001
NM_001277115.2(DNAH11):c.3183C>T (p.Ser1061=) rs528143053 0.00001
NM_001277115.2(DNAH11):c.321C>T (p.Ala107=) rs1562648746 0.00001
NM_001277115.2(DNAH11):c.3256-12T>G rs751950923 0.00001
NM_001277115.2(DNAH11):c.3291C>A (p.Ser1097Arg) rs544553237 0.00001
NM_001277115.2(DNAH11):c.3333G>A (p.Val1111=) rs1469670866 0.00001
NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=) rs761664847 0.00001
NM_001277115.2(DNAH11):c.3465C>A (p.Ser1155=) rs755144481 0.00001
NM_001277115.2(DNAH11):c.3535G>A (p.Val1179Ile) rs201764507 0.00001
NM_001277115.2(DNAH11):c.3587C>T (p.Thr1196Met) rs779537030 0.00001
NM_001277115.2(DNAH11):c.3648+11A>G rs559120051 0.00001
NM_001277115.2(DNAH11):c.3649-20T>C rs886038463 0.00001
NM_001277115.2(DNAH11):c.3684C>T (p.Ile1228=) rs570794632 0.00001
NM_001277115.2(DNAH11):c.369C>T (p.Asn123=) rs779550450 0.00001
NM_001277115.2(DNAH11):c.3708C>T (p.Val1236=) rs746981588 0.00001
NM_001277115.2(DNAH11):c.3732C>T (p.Val1244=) rs1018800661 0.00001
NM_001277115.2(DNAH11):c.3766-4T>G rs775929199 0.00001
NM_001277115.2(DNAH11):c.3853-12T>A rs727502966 0.00001
NM_001277115.2(DNAH11):c.4215C>T (p.Leu1405=) rs886038465 0.00001
NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly) rs1035326227 0.00001
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln) rs751896015 0.00001
NM_001277115.2(DNAH11):c.459G>A (p.Ala153=) rs770376516 0.00001
NM_001277115.2(DNAH11):c.466C>G (p.Leu156Val) rs10269832 0.00001
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=) rs72657324 0.00001
NM_001277115.2(DNAH11):c.4817+8T>A rs1454994196 0.00001
NM_001277115.2(DNAH11):c.4935G>A (p.Gln1645=) rs769779537 0.00001
NM_001277115.2(DNAH11):c.496-5T>C rs375097413 0.00001
NM_001277115.2(DNAH11):c.5259T>C (p.Asp1753=) rs765453467 0.00001
NM_001277115.2(DNAH11):c.5283G>C (p.Leu1761=) rs1060504813 0.00001
NM_001277115.2(DNAH11):c.5328+14T>G rs181945074 0.00001
NM_001277115.2(DNAH11):c.5329-9T>C rs773240082 0.00001
NM_001277115.2(DNAH11):c.5349G>T (p.Leu1783=) rs763225721 0.00001
NM_001277115.2(DNAH11):c.5396T>C (p.Ile1799Thr) rs754635719 0.00001
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=) rs373354778 0.00001
NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val) rs886038470 0.00001
NM_001277115.2(DNAH11):c.5779-17C>T rs1040639068 0.00001
NM_001277115.2(DNAH11):c.5822G>C (p.Trp1941Ser) rs779535145 0.00001
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln) rs761919869 0.00001
NM_001277115.2(DNAH11):c.6042-12T>C rs764234591 0.00001
NM_001277115.2(DNAH11):c.6204T>C (p.Arg2068=) rs749115429 0.00001
NM_001277115.2(DNAH11):c.6232G>A (p.Gly2078Arg) rs776879195 0.00001
NM_001277115.2(DNAH11):c.636A>G (p.Leu212=) rs765936290 0.00001
NM_001277115.2(DNAH11):c.6376G>A (p.Val2126Met) rs772530809 0.00001
NM_001277115.2(DNAH11):c.6639C>G (p.Leu2213=) rs753170391 0.00001
NM_001277115.2(DNAH11):c.6699T>C (p.Tyr2233=) rs755580178 0.00001
NM_001277115.2(DNAH11):c.6810G>A (p.Leu2270=) rs774852383 0.00001
NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile) rs772793348 0.00001
NM_001277115.2(DNAH11):c.6855T>C (p.Asn2285=) rs1784471077 0.00001
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu) rs376475480 0.00001
NM_001277115.2(DNAH11):c.7085G>C (p.Arg2362Thr) rs761114761 0.00001
NM_001277115.2(DNAH11):c.7135-18C>T rs886038472 0.00001
NM_001277115.2(DNAH11):c.7209A>G (p.Glu2403=) rs1260213855 0.00001
NM_001277115.2(DNAH11):c.7225G>A (p.Ala2409Thr) rs559451610 0.00001
NM_001277115.2(DNAH11):c.7271C>G (p.Ser2424Cys) rs765054695 0.00001
NM_001277115.2(DNAH11):c.7377G>C (p.Lys2459Asn) rs1060503059 0.00001
NM_001277115.2(DNAH11):c.7444G>A (p.Val2482Ile) rs545144577 0.00001
NM_001277115.2(DNAH11):c.7513C>T (p.Pro2505Ser) rs373938506 0.00001
NM_001277115.2(DNAH11):c.7527A>G (p.Val2509=) rs745441939 0.00001
NM_001277115.2(DNAH11):c.7535C>A (p.Ala2512Glu) rs779611122 0.00001
NM_001277115.2(DNAH11):c.7725C>T (p.Ile2575=) rs1203442273 0.00001
NM_001277115.2(DNAH11):c.7738A>T (p.Met2580Leu) rs767617416 0.00001
NM_001277115.2(DNAH11):c.8040C>T (p.Pro2680=) rs1292903570 0.00001
NM_001277115.2(DNAH11):c.8059A>G (p.Ile2687Val) rs777290108 0.00001
NM_001277115.2(DNAH11):c.8098A>G (p.Thr2700Ala) rs376421903 0.00001
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met) rs369684624 0.00001
NM_001277115.2(DNAH11):c.8155-9G>T rs539005820 0.00001
NM_001277115.2(DNAH11):c.8228C>T (p.Ala2743Val) rs755229531 0.00001
NM_001277115.2(DNAH11):c.8253A>G (p.Ile2751Met) rs748860182 0.00001
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu) rs1420930266 0.00001
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys) rs770483579 0.00001
NM_001277115.2(DNAH11):c.8561T>C (p.Val2854Ala) rs1397622591 0.00001
NM_001277115.2(DNAH11):c.8573G>A (p.Gly2858Asp) rs757621175 0.00001
NM_001277115.2(DNAH11):c.8766C>T (p.Phe2922=) rs752717335 0.00001
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00001
NM_001277115.2(DNAH11):c.8940+10A>C rs1060504814 0.00001
NM_001277115.2(DNAH11):c.8991G>T (p.Arg2997=) rs878854448 0.00001
NM_001277115.2(DNAH11):c.9102+7C>T rs749697836 0.00001
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile) rs1388667729 0.00001
NM_001277115.2(DNAH11):c.9462C>T (p.Ile3154=) rs764817397 0.00001
NM_001277115.2(DNAH11):c.9477G>A (p.Glu3159=) rs1230182436 0.00001
NM_001277115.2(DNAH11):c.948T>A (p.Pro316=) rs776466911 0.00001
NM_001277115.2(DNAH11):c.9597+12T>G rs1788091484 0.00001
NM_001277115.2(DNAH11):c.9639C>T (p.Ile3213=) rs368831125 0.00001
NM_001277115.2(DNAH11):c.9648C>T (p.Thr3216=) rs1583693853 0.00001
NM_001277115.2(DNAH11):c.9733A>G (p.Met3245Val) rs1307575374 0.00001
NM_001277115.2(DNAH11):c.982+12G>A rs546259810 0.00001
NM_001277115.2(DNAH11):c.9838G>A (p.Glu3280Lys) rs369078097 0.00001
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=) rs376448045 0.00001
NM_001277115.2(DNAH11):c.9950G>A (p.Arg3317His) rs767303269 0.00001
NM_001278293.3(ARL6):c.186-11T>G rs370656150 0.00001
NM_001278293.3(ARL6):c.254+8C>T rs772021931 0.00001
NM_001278293.3(ARL6):c.432T>A (p.Ser144=) rs1324293417 0.00001
NM_001278293.3(ARL6):c.519T>C (p.Gly173=) rs200888923 0.00001
NM_001278293.3(ARL6):c.63G>A (p.Leu21=) rs369665795 0.00001
NM_001278293.3(ARL6):c.96G>A (p.Thr32=) rs771538955 0.00001
NM_001278293.3(ARL6):c.99C>T (p.Ile33=) rs772756275 0.00001
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) rs1283583747 0.00001
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) rs779005063 0.00001
NM_001329943.3(KIAA0586):c.1254-7C>T rs371116548 0.00001
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) rs755857778 0.00001
NM_001329943.3(KIAA0586):c.1362+12A>G rs374756414 0.00001
NM_001329943.3(KIAA0586):c.1363-18G>A rs767847589 0.00001
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) rs527483829 0.00001
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091 0.00001
NM_001329943.3(KIAA0586):c.1656+11G>A rs2040060841 0.00001
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) rs1202169940 0.00001
NM_001329943.3(KIAA0586):c.200-15C>T rs764593812 0.00001
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) rs185266107 0.00001
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) rs750714192 0.00001
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) rs559438142 0.00001
NM_001329943.3(KIAA0586):c.2255-11A>G rs752712583 0.00001
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) rs200937470 0.00001
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) rs751246498 0.00001
NM_001329943.3(KIAA0586):c.2634+20A>G rs546773198 0.00001
NM_001329943.3(KIAA0586):c.2635-17G>T rs1478236874 0.00001
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) rs776447854 0.00001
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) rs527601211 0.00001
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) rs746874985 0.00001
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) rs3783696 0.00001
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) rs779554669 0.00001
NM_001329943.3(KIAA0586):c.3304+19T>A rs759164063 0.00001
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) rs765655962 0.00001
NM_001329943.3(KIAA0586):c.340+7G>T rs763185199 0.00001
NM_001329943.3(KIAA0586):c.3527+12C>T rs1369279718 0.00001
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) rs764114899 0.00001
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) rs780785984 0.00001
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) rs773464253 0.00001
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) rs1480788246 0.00001
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) rs1222178512 0.00001
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) rs755315601 0.00001
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) rs970331206 0.00001
NM_001329943.3(KIAA0586):c.3858+8A>G rs370569855 0.00001
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) rs1437021057 0.00001
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) rs757412652 0.00001
NM_001329943.3(KIAA0586):c.411-1389C>T rs1490162703 0.00001
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) rs372138430 0.00001
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) rs2044165528 0.00001
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) rs900262881 0.00001
NM_001329943.3(KIAA0586):c.4495+3778T>C rs1022389517 0.00001
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) rs767347007 0.00001
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) rs1019648840 0.00001
NM_001329943.3(KIAA0586):c.808-14C>G rs765153409 0.00001
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) rs541197914 0.00001
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) rs1424135868 0.00001
NM_001364171.2(ODAD1):c.1240+11A>G rs1968498982 0.00001
NM_001364171.2(ODAD1):c.1272C>T (p.Cys424=) rs555664154 0.00001
NM_001364171.2(ODAD1):c.1404+9C>T rs200795319 0.00001
NM_001364171.2(ODAD1):c.1530C>T (p.Ser510=) rs768222015 0.00001
NM_001364171.2(ODAD1):c.1701C>T (p.Thr567=) rs908877525 0.00001
NM_001364171.2(ODAD1):c.1905C>T (p.His635=) rs758832949 0.00001
NM_001364171.2(ODAD1):c.2067C>T (p.Thr689=) rs750363102 0.00001
NM_001364171.2(ODAD1):c.363C>A (p.Ile121=) rs775672231 0.00001
NM_001364171.2(ODAD1):c.468A>G (p.Glu156=) rs1213109136 0.00001
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys) rs538588580 0.00001
NM_001364171.2(ODAD1):c.598-6C>T rs753828189 0.00001
NM_001364171.2(ODAD1):c.598-9C>A rs1060504128 0.00001
NM_001364171.2(ODAD1):c.657C>T (p.Tyr219=) rs762832505 0.00001
NM_001364171.2(ODAD1):c.741G>A (p.Ala247=) rs771518813 0.00001
NM_001364171.2(ODAD1):c.822T>C (p.Asp274=) rs767173437 0.00001
NM_001364171.2(ODAD1):c.940C>T (p.Leu314=) rs748033597 0.00001
NM_001369.3(DNAH5):c.10060T>C (p.Leu3354=) rs1752467543 0.00001
NM_001369.3(DNAH5):c.10068G>A (p.Leu3356=) rs769718739 0.00001
NM_001369.3(DNAH5):c.10102-9C>T rs762531071 0.00001
NM_001369.3(DNAH5):c.10134G>C (p.Val3378=) rs761451180 0.00001
NM_001369.3(DNAH5):c.1014T>G (p.Thr338=) rs749523614 0.00001
NM_001369.3(DNAH5):c.10179C>T (p.Ile3393=) rs768597241 0.00001
NM_001369.3(DNAH5):c.10185T>C (p.Thr3395=) rs1169202727 0.00001
NM_001369.3(DNAH5):c.10260C>T (p.Asn3420=) rs771824980 0.00001
NM_001369.3(DNAH5):c.10293G>T (p.Val3431=) rs1224680596 0.00001
NM_001369.3(DNAH5):c.10314C>T (p.Leu3438=) rs886376710 0.00001
NM_001369.3(DNAH5):c.10401G>A (p.Gln3467=) rs373968571 0.00001
NM_001369.3(DNAH5):c.10419+8C>T rs780730089 0.00001
NM_001369.3(DNAH5):c.10527G>A (p.Glu3509=) rs373514903 0.00001
NM_001369.3(DNAH5):c.10611G>A (p.Glu3537=) rs773264493 0.00001
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929 0.00001
NM_001369.3(DNAH5):c.10833G>A (p.Lys3611=) rs1466415649 0.00001
NM_001369.3(DNAH5):c.10836C>T (p.Ile3612=) rs1750509024 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.10893G>A (p.Lys3631=) rs749388508 0.00001
NM_001369.3(DNAH5):c.1090-9A>C rs531634191 0.00001
NM_001369.3(DNAH5):c.10909C>T (p.Leu3637=) rs748412220 0.00001
NM_001369.3(DNAH5):c.10953T>C (p.Asp3651=) rs1361071108 0.00001
NM_001369.3(DNAH5):c.10962G>A (p.Glu3654=) rs1162082114 0.00001
NM_001369.3(DNAH5):c.10992G>A (p.Leu3664=) rs766709160 0.00001
NM_001369.3(DNAH5):c.11029-6A>T rs773606612 0.00001
NM_001369.3(DNAH5):c.1104T>C (p.Asp368=) rs751526276 0.00001
NM_001369.3(DNAH5):c.11136C>T (p.Ser3712=) rs1170163108 0.00001
NM_001369.3(DNAH5):c.11154C>T (p.Val3718=) rs761150551 0.00001
NM_001369.3(DNAH5):c.11157C>T (p.Thr3719=) rs1276440400 0.00001
NM_001369.3(DNAH5):c.1116A>G (p.Thr372=) rs1424198509 0.00001
NM_001369.3(DNAH5):c.11190G>A (p.Arg3730=) rs772425564 0.00001
NM_001369.3(DNAH5):c.11212-20A>G rs760815224 0.00001
NM_001369.3(DNAH5):c.11253T>C (p.Thr3751=) rs1486092540 0.00001
NM_001369.3(DNAH5):c.11280A>G (p.Leu3760=) rs772169912 0.00001
NM_001369.3(DNAH5):c.11286T>C (p.Asp3762=) rs753644166 0.00001
NM_001369.3(DNAH5):c.11298C>T (p.Tyr3766=) rs757118886 0.00001
NM_001369.3(DNAH5):c.11301C>T (p.Arg3767=) rs1482669571 0.00001
NM_001369.3(DNAH5):c.11316G>A (p.Gln3772=) rs763936826 0.00001
NM_001369.3(DNAH5):c.11323C>T (p.Leu3775=) rs1246573323 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) rs774415631 0.00001
NM_001369.3(DNAH5):c.11364A>G (p.Thr3788=) rs756347790 0.00001
NM_001369.3(DNAH5):c.11385G>A (p.Val3795=) rs921373580 0.00001
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=) rs200744540 0.00001
NM_001369.3(DNAH5):c.1149C>A (p.Ile383=) rs780992579 0.00001
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=) rs1024441903 0.00001
NM_001369.3(DNAH5):c.11556C>T (p.Asp3852=) rs745961446 0.00001
NM_001369.3(DNAH5):c.11570+9G>C rs1206430080 0.00001
NM_001369.3(DNAH5):c.11571-6C>T rs1179208296 0.00001
NM_001369.3(DNAH5):c.11619G>A (p.Glu3873=) rs1389316634 0.00001
NM_001369.3(DNAH5):c.11631C>T (p.Tyr3877=) rs776957889 0.00001
NM_001369.3(DNAH5):c.11664C>T (p.Tyr3888=) rs754874486 0.00001
NM_001369.3(DNAH5):c.1167C>T (p.Thr389=) rs747749204 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.1197+9A>G rs766378867 0.00001
NM_001369.3(DNAH5):c.1198-14T>C rs376742406 0.00001
NM_001369.3(DNAH5):c.12034-6T>C rs369614763 0.00001
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln) rs775060022 0.00001
NM_001369.3(DNAH5):c.12111G>A (p.Glu4037=) rs771256143 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp) rs768164911 0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) rs752895938 0.00001
NM_001369.3(DNAH5):c.12258C>G (p.Leu4086=) rs746003819 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=) rs776715085 0.00001
NM_001369.3(DNAH5):c.123T>C (p.Phe41=) rs1361525513 0.00001
NM_001369.3(DNAH5):c.12423A>G (p.Thr4141=) rs756382401 0.00001
NM_001369.3(DNAH5):c.12426C>T (p.Leu4142=) rs543738890 0.00001
NM_001369.3(DNAH5):c.12453C>T (p.Asn4151=) rs764777394 0.00001
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) rs375694023 0.00001
NM_001369.3(DNAH5):c.12615G>A (p.Gly4205=) rs755597752 0.00001
NM_001369.3(DNAH5):c.12630C>T (p.Tyr4210=) rs766099303 0.00001
NM_001369.3(DNAH5):c.12682T>C (p.Leu4228=) rs772505955 0.00001
NM_001369.3(DNAH5):c.12705+8C>T rs897423035 0.00001
NM_001369.3(DNAH5):c.12738A>C (p.Ile4246=) rs763332586 0.00001
NM_001369.3(DNAH5):c.12771C>T (p.Asp4257=) rs200349959 0.00001
NM_001369.3(DNAH5):c.12798A>G (p.Thr4266=) rs756952171 0.00001
NM_001369.3(DNAH5):c.12861C>T (p.Tyr4287=) rs1389988921 0.00001
NM_001369.3(DNAH5):c.12879C>T (p.Ser4293=) rs773544560 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12900G>A (p.Gln4300=) rs1313735230 0.00001
NM_001369.3(DNAH5):c.12910-14T>C rs752241896 0.00001
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008 0.00001
NM_001369.3(DNAH5):c.12984G>A (p.Leu4328=) rs1236779417 0.00001
NM_001369.3(DNAH5):c.12993C>T (p.Asp4331=) rs750130912 0.00001
NM_001369.3(DNAH5):c.1299A>C (p.Leu433=) rs767772562 0.00001
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=) rs766746657 0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.13140G>T (p.Leu4380=) rs890199061 0.00001
NM_001369.3(DNAH5):c.13194C>T (p.Asp4398=) rs769150763 0.00001
NM_001369.3(DNAH5):c.1321-4T>G rs1042276563 0.00001
NM_001369.3(DNAH5):c.13215C>T (p.Ser4405=) rs1406880003 0.00001
NM_001369.3(DNAH5):c.13263C>T (p.Thr4421=) rs765849507 0.00001
NM_001369.3(DNAH5):c.13339-4G>T rs748821124 0.00001
NM_001369.3(DNAH5):c.13339-8C>A rs1326641469 0.00001
NM_001369.3(DNAH5):c.13404T>C (p.Phe4468=) rs891146458 0.00001
NM_001369.3(DNAH5):c.13416T>G (p.Val4472=) rs1350299720 0.00001
NM_001369.3(DNAH5):c.13492-5A>C rs770033667 0.00001
NM_001369.3(DNAH5):c.13503G>A (p.Arg4501=) rs1294086240 0.00001
NM_001369.3(DNAH5):c.13530T>C (p.Asn4510=) rs563536491 0.00001
NM_001369.3(DNAH5):c.13596T>A (p.Gly4532=) rs763033794 0.00001
NM_001369.3(DNAH5):c.13626T>A (p.Gly4542=) rs1239513732 0.00001
NM_001369.3(DNAH5):c.13658T>C (p.Ile4553Thr) rs757572628 0.00001
NM_001369.3(DNAH5):c.13677G>A (p.Val4559=) rs1283108923 0.00001
NM_001369.3(DNAH5):c.13719C>T (p.Asn4573=) rs747291233 0.00001
NM_001369.3(DNAH5):c.1371A>G (p.Pro457=) rs750936789 0.00001
NM_001369.3(DNAH5):c.13724-7T>G rs775698729 0.00001
NM_001369.3(DNAH5):c.13779G>A (p.Thr4593=) rs200555581 0.00001
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr) rs774279588 0.00001
NM_001369.3(DNAH5):c.13827T>C (p.Pro4609=) rs748494424 0.00001
NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys) rs377439232 0.00001
NM_001369.3(DNAH5):c.1431C>T (p.His477=) rs1028207982 0.00001
NM_001369.3(DNAH5):c.1446G>A (p.Lys482=) rs1468330146 0.00001
NM_001369.3(DNAH5):c.1473G>A (p.Lys491=) rs142684499 0.00001
NM_001369.3(DNAH5):c.1536+8A>G rs1580862932 0.00001
NM_001369.3(DNAH5):c.1575C>T (p.Phe525=) rs755393698 0.00001
NM_001369.3(DNAH5):c.1584G>A (p.Gln528=) rs769824207 0.00001
NM_001369.3(DNAH5):c.159C>G (p.Thr53=) rs773322142 0.00001
NM_001369.3(DNAH5):c.1644+10A>G rs756933903 0.00001
NM_001369.3(DNAH5):c.1655G>A (p.Arg552Gln) rs943862890 0.00001
NM_001369.3(DNAH5):c.1701A>G (p.Gln567=) rs1334055620 0.00001
NM_001369.3(DNAH5):c.1731-12T>A rs758106572 0.00001
NM_001369.3(DNAH5):c.1770A>G (p.Gln590=) rs775939948 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg) rs564653952 0.00001
NM_001369.3(DNAH5):c.193-6T>G rs762313659 0.00001
NM_001369.3(DNAH5):c.2010C>G (p.Leu670=) rs1279805559 0.00001
NM_001369.3(DNAH5):c.2028C>T (p.Leu676=) rs1358924801 0.00001
NM_001369.3(DNAH5):c.2052+7C>T rs748368893 0.00001
NM_001369.3(DNAH5):c.2247C>T (p.Phe749=) rs1774417172 0.00001
NM_001369.3(DNAH5):c.2259+8A>G rs202137813 0.00001
NM_001369.3(DNAH5):c.2260-8C>T rs1279714167 0.00001
NM_001369.3(DNAH5):c.2331C>T (p.His777=) rs1275041810 0.00001
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=) rs777353326 0.00001
NM_001369.3(DNAH5):c.2496A>G (p.Leu832=) rs751255770 0.00001
NM_001369.3(DNAH5):c.2499A>G (p.Glu833=) rs369887785 0.00001
NM_001369.3(DNAH5):c.2514G>A (p.Thr838=) rs1403119826 0.00001
NM_001369.3(DNAH5):c.2556A>G (p.Glu852=) rs1460367490 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.2706C>T (p.Ser902=) rs778689338 0.00001
NM_001369.3(DNAH5):c.2744-8T>C rs1324131566 0.00001
NM_001369.3(DNAH5):c.2745A>C (p.Ala915=) rs750846850 0.00001
NM_001369.3(DNAH5):c.2796G>A (p.Arg932=) rs374394989 0.00001
NM_001369.3(DNAH5):c.2799C>A (p.Ala933=) rs770888912 0.00001
NM_001369.3(DNAH5):c.2919T>C (p.Val973=) rs563800936 0.00001
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His) rs780758815 0.00001
NM_001369.3(DNAH5):c.2979C>T (p.Phe993=) rs751271303 0.00001
NM_001369.3(DNAH5):c.2997C>G (p.Ala999=) rs760587023 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3024C>T (p.Pro1008=) rs372336970 0.00001
NM_001369.3(DNAH5):c.3040G>A (p.Val1014Ile) rs778469881 0.00001
NM_001369.3(DNAH5):c.3063C>T (p.Ile1021=) rs555934422 0.00001
NM_001369.3(DNAH5):c.3072C>T (p.Ala1024=) rs759791781 0.00001
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=) rs766451124 0.00001
NM_001369.3(DNAH5):c.3132C>G (p.Val1044=) rs372098767 0.00001
NM_001369.3(DNAH5):c.3174+8T>C rs760991729 0.00001
NM_001369.3(DNAH5):c.3175-5T>C rs773041687 0.00001
NM_001369.3(DNAH5):c.3175-6T>C rs762692396 0.00001
NM_001369.3(DNAH5):c.3263-5T>C rs777699795 0.00001
NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=) rs780565363 0.00001
NM_001369.3(DNAH5):c.3417T>C (p.Asp1139=) rs376330483 0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3459A>G (p.Glu1153=) rs758346022 0.00001
NM_001369.3(DNAH5):c.3465C>T (p.Ala1155=) rs765054817 0.00001
NM_001369.3(DNAH5):c.3474A>G (p.Thr1158=) rs1770126679 0.00001
NM_001369.3(DNAH5):c.348C>T (p.Thr116=) rs775947029 0.00001
NM_001369.3(DNAH5):c.357C>T (p.Asn119=) rs1026473277 0.00001
NM_001369.3(DNAH5):c.3598+10T>C rs1310926563 0.00001
NM_001369.3(DNAH5):c.3618G>C (p.Leu1206=) rs1214008235 0.00001
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) rs752992572 0.00001
NM_001369.3(DNAH5):c.3636C>A (p.Ala1212=) rs1319516979 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu) rs763448297 0.00001
NM_001369.3(DNAH5):c.3696T>C (p.Ile1232=) rs1392338764 0.00001
NM_001369.3(DNAH5):c.3747C>T (p.Asp1249=) rs1280894186 0.00001
NM_001369.3(DNAH5):c.3783A>G (p.Lys1261=) rs1171456052 0.00001
NM_001369.3(DNAH5):c.3816T>C (p.Phe1272=) rs1205757837 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.3861T>C (p.Tyr1287=) rs764026489 0.00001
NM_001369.3(DNAH5):c.3906G>A (p.Leu1302=) rs756702210 0.00001
NM_001369.3(DNAH5):c.3939T>C (p.Ala1313=) rs1769511468 0.00001
NM_001369.3(DNAH5):c.3967C>T (p.Leu1323=) rs767280037 0.00001
NM_001369.3(DNAH5):c.4011A>C (p.Val1337=) rs770033140 0.00001
NM_001369.3(DNAH5):c.4023T>C (p.Asp1341=) rs148451151 0.00001
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00001
NM_001369.3(DNAH5):c.4083C>T (p.Pro1361=) rs149691390 0.00001
NM_001369.3(DNAH5):c.4116+15T>C rs201947846 0.00001
NM_001369.3(DNAH5):c.4117-8T>C rs754469218 0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) rs779020258 0.00001
NM_001369.3(DNAH5):c.4293T>C (p.Asp1431=) rs373649273 0.00001
NM_001369.3(DNAH5):c.4329C>T (p.Asn1443=) rs750736449 0.00001
NM_001369.3(DNAH5):c.4355+20G>C rs1769136200 0.00001
NM_001369.3(DNAH5):c.4377C>T (p.Ala1459=) rs1247715056 0.00001
NM_001369.3(DNAH5):c.438+8G>A rs950201438 0.00001
NM_001369.3(DNAH5):c.4399T>C (p.Leu1467=) rs1768951629 0.00001
NM_001369.3(DNAH5):c.4404C>T (p.Asp1468=) rs1768950903 0.00001
NM_001369.3(DNAH5):c.4413G>A (p.Lys1471=) rs1031523588 0.00001
NM_001369.3(DNAH5):c.4434G>A (p.Glu1478=) rs764614084 0.00001
NM_001369.3(DNAH5):c.4539C>T (p.Ser1513=) rs764718901 0.00001
NM_001369.3(DNAH5):c.4716C>T (p.Leu1572=) rs747337013 0.00001
NM_001369.3(DNAH5):c.4737G>A (p.Ser1579=) rs938971019 0.00001
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala) rs80164898 0.00001
NM_001369.3(DNAH5):c.4866C>T (p.Ile1622=) rs777697449 0.00001
NM_001369.3(DNAH5):c.4938G>A (p.Lys1646=) rs778517001 0.00001
NM_001369.3(DNAH5):c.4959G>A (p.Lys1653=) rs1207203971 0.00001
NM_001369.3(DNAH5):c.5003G>A (p.Arg1668Gln) rs867205765 0.00001
NM_001369.3(DNAH5):c.5073C>T (p.His1691=) rs1766711145 0.00001
NM_001369.3(DNAH5):c.5158G>A (p.Val1720Ile) rs778341195 0.00001
NM_001369.3(DNAH5):c.5178A>G (p.Leu1726=) rs765172494 0.00001
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=) rs142806046 0.00001
NM_001369.3(DNAH5):c.5226G>A (p.Leu1742=) rs749878110 0.00001
NM_001369.3(DNAH5):c.5316G>A (p.Thr1772=) rs1476390725 0.00001
NM_001369.3(DNAH5):c.5343A>G (p.Ala1781=) rs1468241760 0.00001
NM_001369.3(DNAH5):c.5400G>A (p.Leu1800=) rs1765198066 0.00001
NM_001369.3(DNAH5):c.5424C>T (p.Ala1808=) rs915691287 0.00001
NM_001369.3(DNAH5):c.5436A>G (p.Gln1812=) rs746150570 0.00001
NM_001369.3(DNAH5):c.543T>C (p.His181=) rs750749745 0.00001
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val) rs1311080684 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5546C>G (p.Ala1849Gly) rs771182248 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val) rs1259929811 0.00001
NM_001369.3(DNAH5):c.5565C>A (p.Ile1855=) rs781725837 0.00001
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=) rs145129897 0.00001
NM_001369.3(DNAH5):c.5625G>A (p.Thr1875=) rs1054334590 0.00001
NM_001369.3(DNAH5):c.57+14G>T rs756464306 0.00001
NM_001369.3(DNAH5):c.5703T>C (p.Asp1901=) rs761979042 0.00001
NM_001369.3(DNAH5):c.5710-11T>C rs750184432 0.00001
NM_001369.3(DNAH5):c.5710-9G>A rs1425299935 0.00001
NM_001369.3(DNAH5):c.5760C>T (p.Cys1920=) rs1764867511 0.00001
NM_001369.3(DNAH5):c.5802C>T (p.His1934=) rs754458099 0.00001
NM_001369.3(DNAH5):c.5883-6A>G rs763588282 0.00001
NM_001369.3(DNAH5):c.5955C>A (p.Gly1985=) rs141369170 0.00001
NM_001369.3(DNAH5):c.5967C>G (p.Thr1989=) rs1179920146 0.00001
NM_001369.3(DNAH5):c.6000C>T (p.Tyr2000=) rs773208371 0.00001
NM_001369.3(DNAH5):c.6003C>T (p.Val2001=) rs372754085 0.00001
NM_001369.3(DNAH5):c.6105C>T (p.Asn2035=) rs1763448896 0.00001
NM_001369.3(DNAH5):c.6114T>A (p.Asp2038Glu) rs772306307 0.00001
NM_001369.3(DNAH5):c.6162A>C (p.Thr2054=) rs913362638 0.00001
NM_001369.3(DNAH5):c.6183G>A (p.Lys2061=) rs1763433728 0.00001
NM_001369.3(DNAH5):c.6231T>C (p.Phe2077=) rs1392616057 0.00001
NM_001369.3(DNAH5):c.6246C>T (p.Thr2082=) rs1763426938 0.00001
NM_001369.3(DNAH5):c.6250-6G>C rs763560081 0.00001
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp) rs774191944 0.00001
NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=) rs1580457865 0.00001
NM_001369.3(DNAH5):c.6408G>A (p.Thr2136=) rs765298305 0.00001
NM_001369.3(DNAH5):c.6444+7C>T rs1219427450 0.00001
NM_001369.3(DNAH5):c.6445-9A>G rs1762622144 0.00001
NM_001369.3(DNAH5):c.6465G>C (p.Leu2155=) rs1436835343 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.654G>A (p.Lys218=) rs200793212 0.00001
NM_001369.3(DNAH5):c.6553C>T (p.Leu2185=) rs1254706379 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.6579+6dup rs1259303216 0.00001
NM_001369.3(DNAH5):c.6588G>A (p.Glu2196=) rs1268685266 0.00001
NM_001369.3(DNAH5):c.660+8C>T rs765818301 0.00001
NM_001369.3(DNAH5):c.661-7T>C rs1777148974 0.00001
NM_001369.3(DNAH5):c.6678T>C (p.Ile2226=) rs1310698723 0.00001
NM_001369.3(DNAH5):c.6681T>C (p.Ser2227=) rs1355806912 0.00001
NM_001369.3(DNAH5):c.6753G>A (p.Thr2251=) rs571519805 0.00001
NM_001369.3(DNAH5):c.6786G>T (p.Gly2262=) rs749772293 0.00001
NM_001369.3(DNAH5):c.6789C>A (p.Pro2263=) rs756464064 0.00001
NM_001369.3(DNAH5):c.6798T>C (p.Ala2266=) rs1199084520 0.00001
NM_001369.3(DNAH5):c.6841+7G>T rs760366983 0.00001
NM_001369.3(DNAH5):c.691C>T (p.Leu231=) rs1424520916 0.00001
NM_001369.3(DNAH5):c.7086C>T (p.Ala2362=) rs566336932 0.00001
NM_001369.3(DNAH5):c.7092T>C (p.Gly2364=) rs774617981 0.00001
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu) rs757970855 0.00001
NM_001369.3(DNAH5):c.7113A>C (p.Pro2371=) rs768157030 0.00001
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=) rs562255121 0.00001
NM_001369.3(DNAH5):c.7161T>C (p.Pro2387=) rs781701462 0.00001
NM_001369.3(DNAH5):c.7182A>C (p.Gly2394=) rs761385629 0.00001
NM_001369.3(DNAH5):c.7230+7T>C rs759406251 0.00001
NM_001369.3(DNAH5):c.7299A>G (p.Pro2433=) rs747463097 0.00001
NM_001369.3(DNAH5):c.7344G>A (p.Glu2448=) rs766413623 0.00001
NM_001369.3(DNAH5):c.7353G>A (p.Glu2451=) rs763042050 0.00001
NM_001369.3(DNAH5):c.7368A>G (p.Thr2456=) rs1217175160 0.00001
NM_001369.3(DNAH5):c.7407+10T>C rs1413734781 0.00001
NM_001369.3(DNAH5):c.7408-14T>C rs1454703878 0.00001
NM_001369.3(DNAH5):c.7408-17G>A rs1446765769 0.00001
NM_001369.3(DNAH5):c.7408-4T>C rs1388754784 0.00001
NM_001369.3(DNAH5):c.7419G>C (p.Gly2473=) rs1561320276 0.00001
NM_001369.3(DNAH5):c.7449G>T (p.Leu2483=) rs886059974 0.00001
NM_001369.3(DNAH5):c.7455G>A (p.Val2485=) rs543051361 0.00001
NM_001369.3(DNAH5):c.7461G>A (p.Ala2487=) rs1383118374 0.00001
NM_001369.3(DNAH5):c.7497C>T (p.Asp2499=) rs891659169 0.00001
NM_001369.3(DNAH5):c.7503G>T (p.Arg2501=) rs749995346 0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138 0.00001
NM_001369.3(DNAH5):c.7532G>C (p.Arg2511Pro) rs1391746135 0.00001
NM_001369.3(DNAH5):c.7539A>G (p.Thr2513=) rs760847732 0.00001
NM_001369.3(DNAH5):c.7545G>A (p.Thr2515=) rs1344759999 0.00001
NM_001369.3(DNAH5):c.7557G>A (p.Pro2519=) rs1277087280 0.00001
NM_001369.3(DNAH5):c.7569G>A (p.Gly2523=) rs986872979 0.00001
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) rs771328747 0.00001
NM_001369.3(DNAH5):c.7575G>C (p.Gly2525=) rs369958239 0.00001
NM_001369.3(DNAH5):c.7610-8C>T rs748798656 0.00001
NM_001369.3(DNAH5):c.7632G>A (p.Thr2544=) rs574355717 0.00001
NM_001369.3(DNAH5):c.7698T>C (p.Asn2566=) rs542422452 0.00001
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=) rs1222953554 0.00001
NM_001369.3(DNAH5):c.7767T>C (p.Ile2589=) rs772272015 0.00001
NM_001369.3(DNAH5):c.7836C>T (p.His2612=) rs1209930398 0.00001
NM_001369.3(DNAH5):c.7878G>C (p.Leu2626=) rs761281232 0.00001
NM_001369.3(DNAH5):c.7888-10T>G rs1402791029 0.00001
NM_001369.3(DNAH5):c.7888-5C>A rs760613466 0.00001
NM_001369.3(DNAH5):c.7924A>G (p.Thr2642Ala) rs375094026 0.00001
NM_001369.3(DNAH5):c.792A>G (p.Thr264=) rs1358293206 0.00001
NM_001369.3(DNAH5):c.799-11C>T rs371868451 0.00001
NM_001369.3(DNAH5):c.799-8A>G rs765624151 0.00001
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=) rs112594597 0.00001
NM_001369.3(DNAH5):c.8043A>G (p.Glu2681=) rs1468245529 0.00001
NM_001369.3(DNAH5):c.8058T>C (p.Tyr2686=) rs1757372234 0.00001
NM_001369.3(DNAH5):c.8070G>A (p.Lys2690=) rs751151960 0.00001
NM_001369.3(DNAH5):c.8082C>T (p.Phe2694=) rs750126677 0.00001
NM_001369.3(DNAH5):c.8091C>T (p.Ile2697=) rs754038916 0.00001
NM_001369.3(DNAH5):c.831A>G (p.Glu277=) rs1481782747 0.00001
NM_001369.3(DNAH5):c.834G>A (p.Ala278=) rs761192750 0.00001
NM_001369.3(DNAH5):c.8382A>G (p.Leu2794=) rs371252551 0.00001
NM_001369.3(DNAH5):c.8418C>T (p.Asn2806=) rs769684045 0.00001
NM_001369.3(DNAH5):c.846G>A (p.Gly282=) rs748702437 0.00001
NM_001369.3(DNAH5):c.8505A>G (p.Thr2835=) rs765999228 0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu) rs1318152994 0.00001
NM_001369.3(DNAH5):c.855G>A (p.Ala285=) rs931507563 0.00001
NM_001369.3(DNAH5):c.8647+9T>C rs750094609 0.00001
NM_001369.3(DNAH5):c.8648-4A>G rs373518709 0.00001
NM_001369.3(DNAH5):c.8648-7A>G rs375676172 0.00001
NM_001369.3(DNAH5):c.8673T>C (p.Ala2891=) rs773352017 0.00001
NM_001369.3(DNAH5):c.867C>T (p.His289=) rs1302569475 0.00001
NM_001369.3(DNAH5):c.8682T>C (p.Pro2894=) rs761409642 0.00001
NM_001369.3(DNAH5):c.8697A>G (p.Pro2899=) rs1376774959 0.00001
NM_001369.3(DNAH5):c.8703A>G (p.Glu2901=) rs1452715362 0.00001
NM_001369.3(DNAH5):c.8718A>G (p.Leu2906=) rs756991846 0.00001
NM_001369.3(DNAH5):c.8769C>T (p.Gly2923=) rs546765121 0.00001
NM_001369.3(DNAH5):c.8821-4A>G rs746538081 0.00001
NM_001369.3(DNAH5):c.8821-8T>C rs747829743 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.8842C>T (p.Pro2948Ser) rs374634044 0.00001
NM_001369.3(DNAH5):c.8865C>T (p.Val2955=) rs564462253 0.00001
NM_001369.3(DNAH5):c.8874C>T (p.Gly2958=) rs771977539 0.00001
NM_001369.3(DNAH5):c.8949G>A (p.Thr2983=) rs1006363674 0.00001
NM_001369.3(DNAH5):c.8991T>G (p.Val2997=) rs776985428 0.00001
NM_001369.3(DNAH5):c.9012G>A (p.Gln3004=) rs1236100758 0.00001
NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu) rs772987380 0.00001
NM_001369.3(DNAH5):c.910T>C (p.Leu304=) rs754396098 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln) rs745557874 0.00001
NM_001369.3(DNAH5):c.9373+10G>T rs555164140 0.00001
NM_001369.3(DNAH5):c.9374-5T>C rs936631893 0.00001
NM_001369.3(DNAH5):c.942A>C (p.Ala314=) rs769341512 0.00001
NM_001369.3(DNAH5):c.9477G>A (p.Lys3159=) rs1300247439 0.00001
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val) rs199691556 0.00001
NM_001369.3(DNAH5):c.9579T>C (p.His3193=) rs139606604 0.00001
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp) rs753913853 0.00001
NM_001369.3(DNAH5):c.9605+7G>A rs1433603838 0.00001
NM_001369.3(DNAH5):c.9630C>G (p.Leu3210=) rs910986442 0.00001
NM_001369.3(DNAH5):c.963G>T (p.Ser321=) rs758493084 0.00001
NM_001369.3(DNAH5):c.9645G>A (p.Glu3215=) rs1285452658 0.00001
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=) rs547729937 0.00001
NM_001369.3(DNAH5):c.975+9C>T rs756706408 0.00001
NM_001369.3(DNAH5):c.976-9T>C rs1409204466 0.00001
NM_001369.3(DNAH5):c.9825A>G (p.Lys3275=) rs1580139912 0.00001
NM_001369.3(DNAH5):c.9891A>G (p.Ala3297=) rs863224387 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_001369.3(DNAH5):c.9945C>T (p.Pro3315=) rs1468197924 0.00001
NM_001369.3(DNAH5):c.9954C>T (p.Leu3318=) rs751586686 0.00001
NM_001369.3(DNAH5):c.9984G>T (p.Leu3328=) rs770559422 0.00001
NM_001369.3(DNAH5):c.9987G>A (p.Leu3329=) rs372955295 0.00001
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=) rs1038607014 0.00001
NM_001375405.1(CEP120):c.1002G>A (p.Val334=) rs753263238 0.00001
NM_001375405.1(CEP120):c.108A>C (p.Gly36=) rs1289971154 0.00001
NM_001375405.1(CEP120):c.1488A>G (p.Glu496=) rs1772033397 0.00001
NM_001375405.1(CEP120):c.1580+14T>C rs1772025870 0.00001
NM_001375405.1(CEP120):c.1763+7C>T rs375098616 0.00001
NM_001375405.1(CEP120):c.2014-20T>A rs1412278670 0.00001
NM_001375405.1(CEP120):c.2220G>T (p.Leu740=) rs750757836 0.00001
NM_001375405.1(CEP120):c.2358+11G>A rs778675981 0.00001
NM_001375405.1(CEP120):c.2358+8A>C rs781621962 0.00001
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His) rs771132137 0.00001
NM_001375405.1(CEP120):c.2736A>G (p.Gln912=) rs758997502 0.00001
NM_001375405.1(CEP120):c.49+19G>A rs1774813689 0.00001
NM_001375405.1(CEP120):c.50-12C>T rs755652817 0.00001
NM_001375405.1(CEP120):c.604T>C (p.Leu202=) rs1220874723 0.00001
NM_001375405.1(CEP120):c.765T>C (p.Ser255=) rs1399621575 0.00001
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616 0.00001
NM_001377.3(DYNC2H1):c.10042+10T>G rs754275993 0.00001
NM_001377.3(DYNC2H1):c.10207-11del rs748441178 0.00001
NM_001377.3(DYNC2H1):c.10558T>C (p.Leu3520=) rs759333511 0.00001
NM_001377.3(DYNC2H1):c.10606-7T>A rs771905098 0.00001
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.11095+9G>A rs748308021 0.00001
NM_001377.3(DYNC2H1):c.11096-12T>C rs553039905 0.00001
NM_001377.3(DYNC2H1):c.11229T>C (p.Ala3743=) rs762738219 0.00001
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=) rs760751244 0.00001
NM_001377.3(DYNC2H1):c.11412C>G (p.Thr3804=) rs1413586709 0.00001
NM_001377.3(DYNC2H1):c.11466A>G (p.Leu3822=) rs776029594 0.00001
NM_001377.3(DYNC2H1):c.11784A>G (p.Gly3928=) rs200386864 0.00001
NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=) rs794727942 0.00001
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=) rs370818346 0.00001
NM_001377.3(DYNC2H1):c.12078A>G (p.Thr4026=) rs1940453412 0.00001
NM_001377.3(DYNC2H1):c.12456+17T>C rs747889821 0.00001
NM_001377.3(DYNC2H1):c.1248+8A>G rs202130799 0.00001
NM_001377.3(DYNC2H1):c.1249-20C>T rs979448480 0.00001
NM_001377.3(DYNC2H1):c.1249-6T>C rs753712960 0.00001
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079 0.00001
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) rs752163457 0.00001
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) rs371640317 0.00001
NM_001377.3(DYNC2H1):c.1419A>G (p.Pro473=) rs549285919 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001377.3(DYNC2H1):c.1476G>A (p.Leu492=) rs1159451413 0.00001
NM_001377.3(DYNC2H1):c.1480T>C (p.Leu494=) rs773206463 0.00001
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) rs754192939 0.00001
NM_001377.3(DYNC2H1):c.1752A>G (p.Arg584=) rs1257969828 0.00001
NM_001377.3(DYNC2H1):c.1857+8A>G rs751414927 0.00001
NM_001377.3(DYNC2H1):c.1858-15A>T rs1325304956 0.00001
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=) rs143172984 0.00001
NM_001377.3(DYNC2H1):c.2574+9C>T rs777840832 0.00001
NM_001377.3(DYNC2H1):c.2702+9G>C rs373942624 0.00001
NM_001377.3(DYNC2H1):c.2703-14T>C rs755481753 0.00001
NM_001377.3(DYNC2H1):c.2946+16T>C rs767276261 0.00001
NM_001377.3(DYNC2H1):c.3096+8T>G rs1310378983 0.00001
NM_001377.3(DYNC2H1):c.3318T>C (p.His1106=) rs1483760923 0.00001
NM_001377.3(DYNC2H1):c.366+12A>G rs759952846 0.00001
NM_001377.3(DYNC2H1):c.3807T>C (p.Leu1269=) rs373847672 0.00001
NM_001377.3(DYNC2H1):c.3915T>C (p.Asn1305=) rs760565304 0.00001
NM_001377.3(DYNC2H1):c.3969T>C (p.Asp1323=) rs761717668 0.00001
NM_001377.3(DYNC2H1):c.4233T>C (p.Cys1411=) rs749077356 0.00001
NM_001377.3(DYNC2H1):c.4260+9T>C rs775413322 0.00001
NM_001377.3(DYNC2H1):c.4477T>A (p.Ser1493Thr) rs748170980 0.00001
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250 0.00001
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=) rs376188702 0.00001
NM_001377.3(DYNC2H1):c.4969-12G>A rs1416444641 0.00001
NM_001377.3(DYNC2H1):c.4969-6G>T rs769738447 0.00001
NM_001377.3(DYNC2H1):c.519C>T (p.Ser173=) rs753800897 0.00001
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564 0.00001
NM_001377.3(DYNC2H1):c.570T>C (p.Ile190=) rs1159253078 0.00001
NM_001377.3(DYNC2H1):c.5748C>T (p.Thr1916=) rs771940514 0.00001
NM_001377.3(DYNC2H1):c.5760A>C (p.Ala1920=) rs932048082 0.00001
NM_001377.3(DYNC2H1):c.6177C>T (p.Asp2059=) rs180806841 0.00001
NM_001377.3(DYNC2H1):c.6347+19A>G rs781430532 0.00001
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=) rs1386325793 0.00001
NM_001377.3(DYNC2H1):c.6723T>C (p.Tyr2241=) rs764773100 0.00001
NM_001377.3(DYNC2H1):c.7438-12T>C rs746941409 0.00001
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566 0.00001
NM_001377.3(DYNC2H1):c.783G>A (p.Arg261=) rs774350008 0.00001
NM_001377.3(DYNC2H1):c.8346G>A (p.Met2782Ile) rs774895745 0.00001
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=) rs768132660 0.00001
NM_001377.3(DYNC2H1):c.8540-19A>G rs1243511944 0.00001
NM_001377.3(DYNC2H1):c.8943A>G (p.Val2981=) rs1473860564 0.00001
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) rs765905797 0.00001
NM_001377.3(DYNC2H1):c.9300C>G (p.Ser3100=) rs767898390 0.00001
NM_001377.3(DYNC2H1):c.9354-17A>G rs779447871 0.00001
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=) rs930832327 0.00001
NM_001377.3(DYNC2H1):c.9441-15T>G rs758850667 0.00001
NM_001377.3(DYNC2H1):c.9441-4A>G rs1456316382 0.00001
NM_001377.3(DYNC2H1):c.9919-20A>G rs555124116 0.00001
NM_001377.3(DYNC2H1):c.9C>T (p.Asn3=) rs1471623012 0.00001
NM_001378454.1(ALMS1):c.10011C>T (p.Tyr3337=) rs757671067 0.00001
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=) rs1180602339 0.00001
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10122A>G (p.Ser3374=) rs761165541 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=) rs749030025 0.00001
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.10214-4G>A rs757482053 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10233T>G (p.Ala3411=) rs746651541 0.00001
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=) rs770284777 0.00001
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=) rs1446989496 0.00001
NM_001378454.1(ALMS1):c.1035T>C (p.Tyr345=) rs762735674 0.00001
NM_001378454.1(ALMS1):c.10385-5T>C rs1345014390 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.10425T>C (p.Ser3475=) rs767283952 0.00001
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=) rs1674948697 0.00001
NM_001378454.1(ALMS1):c.10506A>G (p.Gly3502=) rs1305325242 0.00001
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152 0.00001
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=) rs1246917834 0.00001
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=) rs1460043103 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.10962C>T (p.Ser3654=) rs1674967989 0.00001
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927 0.00001
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=) rs761324500 0.00001
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=) rs1275803711 0.00001
NM_001378454.1(ALMS1):c.1104A>G (p.Ser368=) rs1279010454 0.00001
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=) rs758563118 0.00001
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=) rs1421582809 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11163G>C (p.Leu3721=) rs563578298 0.00001
NM_001378454.1(ALMS1):c.11205G>A (p.Ser3735=) rs368226507 0.00001
NM_001378454.1(ALMS1):c.11220A>G (p.Ser3740=) rs1674977838 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=) rs369063904 0.00001
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=) rs1215015585 0.00001
NM_001378454.1(ALMS1):c.11424A>G (p.Leu3808=) rs760607996 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 0.00001
NM_001378454.1(ALMS1):c.11547+11A>G rs1674988694 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.11548-5T>C rs1239982754 0.00001
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=) rs1296746698 0.00001
NM_001378454.1(ALMS1):c.11668+9T>C rs1675626765 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11669-8C>T rs1220049600 0.00001
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=) rs202172921 0.00001
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=) rs1450546722 0.00001
NM_001378454.1(ALMS1):c.11872+9C>A rs768886966 0.00001
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=) rs755392274 0.00001
NM_001378454.1(ALMS1):c.11937C>T (p.Asn3979=) rs1204975430 0.00001
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=) rs756136557 0.00001
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=) rs756694050 0.00001
NM_001378454.1(ALMS1):c.12027G>A (p.Gln4009=) rs1406016543 0.00001
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=) rs767174517 0.00001
NM_001378454.1(ALMS1):c.12114+11G>A rs771751866 0.00001
NM_001378454.1(ALMS1):c.12114+12T>C rs377393930 0.00001
NM_001378454.1(ALMS1):c.12115-16T>C rs746685261 0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=) rs769083768 0.00001
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=) rs780806925 0.00001
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=) rs760968067 0.00001
NM_001378454.1(ALMS1):c.12298+13C>T rs202064010 0.00001
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.12362+7C>A rs1257275977 0.00001
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398 0.00001
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124 0.00001
NM_001378454.1(ALMS1):c.12453A>G (p.Leu4151=) rs749502767 0.00001
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=) rs1348620586 0.00001
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12463-4A>G rs755283383 0.00001
NM_001378454.1(ALMS1):c.12483G>A (p.Leu4161=) rs756592287 0.00001
NM_001378454.1(ALMS1):c.126C>T (p.Val42=) rs766762252 0.00001
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=) rs544932125 0.00001
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=) rs1325950841 0.00001
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=) rs1246412833 0.00001
NM_001378454.1(ALMS1):c.1338+10A>G rs1430183145 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=) rs370873335 0.00001
NM_001378454.1(ALMS1):c.1368A>T (p.Ser456=) rs1275741570 0.00001
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=) rs935279576 0.00001
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703 0.00001
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=) rs1313456848 0.00001
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=) rs767100210 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345 0.00001
NM_001378454.1(ALMS1):c.1449A>G (p.Gly483=) rs753352047 0.00001
NM_001378454.1(ALMS1):c.1452C>T (p.Gly484=) rs758794145 0.00001
NM_001378454.1(ALMS1):c.150G>T (p.Ala50=) rs757262099 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.1533C>T (p.Ser511=) rs753538515 0.00001
NM_001378454.1(ALMS1):c.1617A>G (p.Gln539=) rs1483766765 0.00001
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=) rs1313030064 0.00001
NM_001378454.1(ALMS1):c.1653T>C (p.Thr551=) rs1280098713 0.00001
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=) rs752130351 0.00001
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=) rs1027908105 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=) rs746995241 0.00001
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=) rs1558647545 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=) rs1415449725 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=) rs1474922476 0.00001
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=) rs745591025 0.00001
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748 0.00001
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934 0.00001
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523 0.00001
NM_001378454.1(ALMS1):c.2082A>G (p.Lys694=) rs1221929641 0.00001
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=) rs878854997 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181 0.00001
NM_001378454.1(ALMS1):c.21A>T (p.Pro7=) rs373614102 0.00001
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=) rs770172498 0.00001
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=) rs752503817 0.00001
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=) rs368947491 0.00001
NM_001378454.1(ALMS1):c.2394C>T (p.Asp798=) rs749555689 0.00001
NM_001378454.1(ALMS1):c.2400G>A (p.Lys800=) rs748416864 0.00001
NM_001378454.1(ALMS1):c.2454T>C (p.Leu818=) rs1247367857 0.00001
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=) rs936723133 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=) rs748371743 0.00001
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316 0.00001
NM_001378454.1(ALMS1):c.2547G>T (p.Gly849=) rs1469851023 0.00001
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=) rs1224727067 0.00001
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=) rs760421159 0.00001
NM_001378454.1(ALMS1):c.2676A>G (p.Gly892=) rs745887923 0.00001
NM_001378454.1(ALMS1):c.27G>C (p.Pro9=) rs1283224132 0.00001
NM_001378454.1(ALMS1):c.2818T>C (p.Leu940=) rs1354122111 0.00001
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=) rs764095354 0.00001
NM_001378454.1(ALMS1):c.3009C>T (p.Phe1003=) rs1572933379 0.00001
NM_001378454.1(ALMS1):c.3153A>C (p.Pro1051=) rs1392773390 0.00001
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=) rs1442317986 0.00001
NM_001378454.1(ALMS1):c.321G>A (p.Glu107=) rs1307758613 0.00001
NM_001378454.1(ALMS1):c.3234C>G (p.Ala1078=) rs771305195 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.324+15G>C rs1670526210 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.325-8A>G rs200740825 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.3267A>G (p.Thr1089=) rs773260160 0.00001
NM_001378454.1(ALMS1):c.3279G>A (p.Pro1093=) rs751312971 0.00001
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=) rs933667520 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=) rs774634872 0.00001
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=) rs1190737675 0.00001
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=) rs373926995 0.00001
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGlu) rs764804760 0.00001
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=) rs766030249 0.00001
NM_001378454.1(ALMS1):c.3717C>T (p.Tyr1239=) rs1435076239 0.00001
NM_001378454.1(ALMS1):c.3879C>G (p.Pro1293=) rs758192739 0.00001
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=) rs1480882041 0.00001
NM_001378454.1(ALMS1):c.3921T>C (p.Thr1307=) rs948851454 0.00001
NM_001378454.1(ALMS1):c.3930T>C (p.Ala1310=) rs1558649057 0.00001
NM_001378454.1(ALMS1):c.402T>C (p.Asn134=) rs1240872723 0.00001
NM_001378454.1(ALMS1):c.4098A>G (p.Pro1366=) rs772462489 0.00001
NM_001378454.1(ALMS1):c.4176C>T (p.Tyr1392=) rs772411117 0.00001
NM_001378454.1(ALMS1):c.417A>G (p.Glu139=) rs1671018870 0.00001
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=) rs546247768 0.00001
NM_001378454.1(ALMS1):c.4254G>A (p.Lys1418=) rs1409007880 0.00001
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=) rs762342999 0.00001
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=) rs776573127 0.00001
NM_001378454.1(ALMS1):c.450+16C>T rs1443506357 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4536A>G (p.Thr1512=) rs972719043 0.00001
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=) rs1463648060 0.00001
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=) rs754001171 0.00001
NM_001378454.1(ALMS1):c.474T>G (p.Leu158=) rs1671237121 0.00001
NM_001378454.1(ALMS1):c.4770A>G (p.Leu1590=) rs772781647 0.00001
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=) rs368170757 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.4959G>A (p.Gln1653=) rs577161825 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=) rs751254168 0.00001
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=) rs1452302408 0.00001
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=) rs1172791139 0.00001
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=) rs749270228 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=) rs1212958211 0.00001
NM_001378454.1(ALMS1):c.5328T>C (p.Ser1776=) rs745907642 0.00001
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=) rs544125936 0.00001
NM_001378454.1(ALMS1):c.5412T>C (p.Thr1804=) rs1671951033 0.00001
NM_001378454.1(ALMS1):c.5430G>A (p.Glu1810=) rs781538261 0.00001
NM_001378454.1(ALMS1):c.546T>C (p.Thr182=) rs771906516 0.00001
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=) rs768057574 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=) rs1214725052 0.00001
NM_001378454.1(ALMS1):c.5727G>A (p.Glu1909=) rs748955901 0.00001
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=) rs1448744121 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=) rs753533853 0.00001
NM_001378454.1(ALMS1):c.6003G>C (p.Val2001=) rs765190182 0.00001
NM_001378454.1(ALMS1):c.6084A>G (p.Ser2028=) rs776704483 0.00001
NM_001378454.1(ALMS1):c.6141C>G (p.Ser2047=) rs960120562 0.00001
NM_001378454.1(ALMS1):c.6177A>G (p.Gln2059=) rs202168524 0.00001
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=) rs1422537312 0.00001
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=) rs1383333428 0.00001
NM_001378454.1(ALMS1):c.6243T>C (p.Thr2081=) rs1034084163 0.00001
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=) rs1357847945 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=) rs750552165 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6525T>A (p.Ala2175=) rs770611166 0.00001
NM_001378454.1(ALMS1):c.6552T>A (p.Val2184=) rs1314059869 0.00001
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=) rs745443498 0.00001
NM_001378454.1(ALMS1):c.6729T>C (p.Asp2243=) rs745661762 0.00001
NM_001378454.1(ALMS1):c.6894G>A (p.Lys2298=) rs776841349 0.00001
NM_001378454.1(ALMS1):c.6897G>A (p.Lys2299=) rs1407961591 0.00001
NM_001378454.1(ALMS1):c.6933A>G (p.Val2311=) rs760397485 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=) rs751020257 0.00001
NM_001378454.1(ALMS1):c.7122A>G (p.Leu2374=) rs780149631 0.00001
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=) rs1043215081 0.00001
NM_001378454.1(ALMS1):c.7128A>G (p.Glu2376=) rs1671997943 0.00001
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=) rs765016221 0.00001
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=) rs1476708147 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.7488T>C (p.Ala2496=) rs778108392 0.00001
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=) rs751719112 0.00001
NM_001378454.1(ALMS1):c.7540+17A>G rs760021552 0.00001
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.765-10A>G rs568327363 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.765-4T>C rs1671338808 0.00001
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=) rs763958360 0.00001
NM_001378454.1(ALMS1):c.7728C>T (p.His2576=) rs779295714 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.7746T>C (p.His2582=) rs1221650688 0.00001
NM_001378454.1(ALMS1):c.7785A>G (p.Pro2595=) rs764864303 0.00001
NM_001378454.1(ALMS1):c.7791A>G (p.Leu2597=) rs45624944 0.00001
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=) rs1296333400 0.00001
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=) rs1034500469 0.00001
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=) rs1672938733 0.00001
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=) rs749406009 0.00001
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=) rs1407932856 0.00001
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=) rs1232647931 0.00001
NM_001378454.1(ALMS1):c.8019T>C (p.Asp2673=) rs1205311372 0.00001
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=) rs1672945488 0.00001
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=) rs1458822343 0.00001
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=) rs760408197 0.00001
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=) rs766179893 0.00001
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=) rs774574310 0.00001
NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=) rs1483404753 0.00001
NM_001378454.1(ALMS1):c.8436A>G (p.Leu2812=) rs1672953527 0.00001
NM_001378454.1(ALMS1):c.843T>A (p.Thr281=) rs1221377566 0.00001
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=) rs753487338 0.00001
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=) rs775435481 0.00001
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=) rs748158586 0.00001
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=) rs748474795 0.00001
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=) rs1403743198 0.00001
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=) rs1338132238 0.00001
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=) rs1446635577 0.00001
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=) rs1258151977 0.00001
NM_001378454.1(ALMS1):c.87T>C (p.Ala29=) rs748863552 0.00001
NM_001378454.1(ALMS1):c.8856T>C (p.Gly2952=) rs764541883 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8907C>T (p.Cys2969=) rs1355984539 0.00001
NM_001378454.1(ALMS1):c.897G>A (p.Pro299=) rs1296000408 0.00001
NM_001378454.1(ALMS1):c.903A>T (p.Ile301=) rs552890246 0.00001
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=) rs1464769523 0.00001
NM_001378454.1(ALMS1):c.9063C>T (p.Ser3021=) rs762273689 0.00001
NM_001378454.1(ALMS1):c.9102A>G (p.Ala3034=) rs946963036 0.00001
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117 0.00001
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=) rs1157529422 0.00001
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=) rs773703427 0.00001
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=) rs771679163 0.00001
NM_001378454.1(ALMS1):c.9327G>A (p.Gln3109=) rs1366215746 0.00001
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=) rs753655534 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=) rs13009609 0.00001
NM_001378454.1(ALMS1):c.9480G>A (p.Val3160=) rs752405413 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.9539+10dup rs775577830 0.00001
NM_001378454.1(ALMS1):c.9540-5G>A rs755268745 0.00001
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=) rs755456619 0.00001
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393 0.00001
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=) rs1558679135 0.00001
NM_001378454.1(ALMS1):c.9648T>G (p.Ser3216=) rs761650480 0.00001
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=) rs772672912 0.00001
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=) rs776177155 0.00001
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=) rs764518519 0.00001
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=) rs374674419 0.00001
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=) rs776142259 0.00001
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=) rs1394836058 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9781+19A>G rs895296631 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9782-4T>C rs1313825506 0.00001
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=) rs1573000972 0.00001
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=) rs1558684497 0.00001
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=) rs773900415 0.00001
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=) rs1455531770 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001378454.1(ALMS1):c.9907+9C>T rs761440321 0.00001
NM_001378454.1(ALMS1):c.9908-4G>T rs1247899083 0.00001
NM_001378454.1(ALMS1):c.9915T>C (p.Asn3305=) rs776834724 0.00001
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=) rs1314404557 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1018-12C>T rs375602687 0.00001
NM_001378615.1(CC2D2A):c.1057C>T (p.Leu353=) rs1365896129 0.00001
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=) rs886044284 0.00001
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro) rs759668652 0.00001
NM_001378615.1(CC2D2A):c.1150-4G>A rs956757805 0.00001
NM_001378615.1(CC2D2A):c.1209T>C (p.Asn403=) rs764983506 0.00001
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=) rs1717581475 0.00001
NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=) rs765072025 0.00001
NM_001378615.1(CC2D2A):c.1515G>A (p.Leu505=) rs1188194101 0.00001
NM_001378615.1(CC2D2A):c.1536T>C (p.Val512=) rs1182295220 0.00001
NM_001378615.1(CC2D2A):c.1677G>C (p.Leu559=) rs1560170993 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=) rs1001847837 0.00001
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=) rs763567590 0.00001
NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly) rs760215716 0.00001
NM_001378615.1(CC2D2A):c.1863T>G (p.Pro621=) rs1325653391 0.00001
NM_001378615.1(CC2D2A):c.1927A>C (p.Arg643=) rs1048216556 0.00001
NM_001378615.1(CC2D2A):c.2004-17A>G rs759192059 0.00001
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=) rs182372139 0.00001
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=) rs1236071005 0.00001
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=) rs1718959533 0.00001
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=) rs371834330 0.00001
NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=) rs200973968 0.00001
NM_001378615.1(CC2D2A):c.247+8C>T rs1279815589 0.00001
NM_001378615.1(CC2D2A):c.248-15G>A rs756298299 0.00001
NM_001378615.1(CC2D2A):c.2486+18T>C rs1395000705 0.00001
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=) rs955087884 0.00001
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=) rs944541785 0.00001
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=) rs987594766 0.00001
NM_001378615.1(CC2D2A):c.2829+20G>A rs751376075 0.00001
NM_001378615.1(CC2D2A):c.2829+9C>T rs1009676697 0.00001
NM_001378615.1(CC2D2A):c.2923-9T>C rs753188706 0.00001
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=) rs1044670589 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669 0.00001
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=) rs781371086 0.00001
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=) rs767804652 0.00001
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=) rs1185288924 0.00001
NM_001378615.1(CC2D2A):c.3174G>A (p.Pro1058=) rs769474903 0.00001
NM_001378615.1(CC2D2A):c.3183-5C>T rs763724257 0.00001
NM_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu) rs556931817 0.00001
NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=) rs970431525 0.00001
NM_001378615.1(CC2D2A):c.3249G>A (p.Thr1083=) rs200431110 0.00001
NM_001378615.1(CC2D2A):c.3289-11_3289-10del rs770737692 0.00001
NM_001378615.1(CC2D2A):c.333G>A (p.Ala111=) rs200273579 0.00001
NM_001378615.1(CC2D2A):c.3348G>A (p.Thr1116=) rs758507321 0.00001
NM_001378615.1(CC2D2A):c.337-13T>C rs754124890 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=) rs780482620 0.00001
NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=) rs749549856 0.00001
NM_001378615.1(CC2D2A):c.3595-11T>A rs1476484459 0.00001
NM_001378615.1(CC2D2A):c.3772-5_3772-4del rs1484994421 0.00001
NM_001378615.1(CC2D2A):c.39+13_39+15dup rs1714188068 0.00001
NM_001378615.1(CC2D2A):c.39+7G>A rs1389256356 0.00001
NM_001378615.1(CC2D2A):c.39+8G>A rs768894327 0.00001
NM_001378615.1(CC2D2A):c.3996G>A (p.Val1332=) rs751553707 0.00001
NM_001378615.1(CC2D2A):c.4065+9T>C rs748709735 0.00001
NM_001378615.1(CC2D2A):c.4066-7T>C rs778478305 0.00001
NM_001378615.1(CC2D2A):c.4155G>A (p.Leu1385=) rs371862849 0.00001
NM_001378615.1(CC2D2A):c.4197G>A (p.Val1399=) rs897543991 0.00001
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=) rs1720998446 0.00001
NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=) rs1455738671 0.00001
NM_001378615.1(CC2D2A):c.4315-8T>C rs370982819 0.00001
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=) rs780298185 0.00001
NM_001378615.1(CC2D2A):c.438+9T>C rs775606863 0.00001
NM_001378615.1(CC2D2A):c.439-5T>A rs369244755 0.00001
NM_001378615.1(CC2D2A):c.4438-4A>G rs1463104948 0.00001
NM_001378615.1(CC2D2A):c.4467C>T (p.Asp1489=) rs1229562320 0.00001
NM_001378615.1(CC2D2A):c.4496+12T>G rs754326845 0.00001
NM_001378615.1(CC2D2A):c.4551T>C (p.Thr1517=) rs756862259 0.00001
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=) rs556117615 0.00001
NM_001378615.1(CC2D2A):c.4674+13T>C rs1216887028 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.4680T>C (p.Ser1560=) rs752706778 0.00001
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala) rs572716623 0.00001
NM_001378615.1(CC2D2A):c.4862A>G (p.Ter1621=) rs761690020 0.00001
NM_001378615.1(CC2D2A):c.541-6C>T rs757151024 0.00001
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=) rs536646769 0.00001
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu) rs773437112 0.00001
NM_001378615.1(CC2D2A):c.717+8A>G rs1716564777 0.00001
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.880+7G>A rs1445614932 0.00001
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=) rs1256968285 0.00001
NM_001378615.1(CC2D2A):c.969A>G (p.Ala323=) rs763921042 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_001382391.1(CSPP1):c.-112G>C rs753468929 0.00001
NM_001382391.1(CSPP1):c.-76C>T rs1261027822 0.00001
NM_001382391.1(CSPP1):c.-82G>C rs778940690 0.00001
NM_001382391.1(CSPP1):c.1023-9T>C rs1161675884 0.00001
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) rs780635377 0.00001
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) rs1215710015 0.00001
NM_001382391.1(CSPP1):c.1188-10T>C rs1458775172 0.00001
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) rs182555422 0.00001
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) rs747901737 0.00001
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) rs756441690 0.00001
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) rs1441641063 0.00001
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) rs759106091 0.00001
NM_001382391.1(CSPP1):c.1827+10C>A rs757078413 0.00001
NM_001382391.1(CSPP1):c.1828-4C>A rs1064797347 0.00001
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) rs1320611050 0.00001
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) rs1334965098 0.00001
NM_001382391.1(CSPP1):c.200-15T>C rs1025519086 0.00001
NM_001382391.1(CSPP1):c.2128+17T>G rs1465446692 0.00001
NM_001382391.1(CSPP1):c.2242-19A>T rs771867162 0.00001
NM_001382391.1(CSPP1):c.2391+7C>G rs1827123471 0.00001
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) rs775968442 0.00001
NM_001382391.1(CSPP1):c.2538+10A>G rs141325681 0.00001
NM_001382391.1(CSPP1):c.2538+11G>A rs758376225 0.00001
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) rs780284845 0.00001
NM_001382391.1(CSPP1):c.2643+7A>G rs190584438 0.00001
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) rs763958350 0.00001
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) rs778144204 0.00001
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) rs1324539056 0.00001
NM_001382391.1(CSPP1):c.2829-4A>G rs752142812 0.00001
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) rs567550598 0.00001
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) rs761971816 0.00001
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) rs1810339109 0.00001
NM_001382391.1(CSPP1):c.303+7A>G rs1810343333 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) rs760017432 0.00001
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) rs757510042 0.00001
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) rs374780184 0.00001
NM_001382391.1(CSPP1):c.738T>C (p.His246=) rs773951141 0.00001
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) rs1446123007 0.00001
NM_001384732.1(CPLANE1):c.1121+7C>T rs776591358 0.00001
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) rs1561663335 0.00001
NM_001384732.1(CPLANE1):c.2501-7T>C rs1315683149 0.00001
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=) rs571145214 0.00001
NM_001384732.1(CPLANE1):c.6463-17T>C rs753835579 0.00001
NM_001384732.1(CPLANE1):c.7401-14A>G rs1052354484 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) rs771793682 0.00001
NM_001384732.1(CPLANE1):c.8461+19G>A rs772961080 0.00001
NM_001481.3(GAS8):c.1275C>T (p.Ala425=) rs747811320 0.00001
NM_001481.3(GAS8):c.1353C>T (p.Asn451=) rs574070740 0.00001
NM_001481.3(GAS8):c.147A>C (p.Arg49=) rs200939568 0.00001
NM_001481.3(GAS8):c.4-20C>T rs200553227 0.00001
NM_001481.3(GAS8):c.550+18T>C rs2036832585 0.00001
NM_001481.3(GAS8):c.678C>T (p.His226=) rs1008048501 0.00001
NM_001481.3(GAS8):c.717C>T (p.Asp239=) rs1765149285 0.00001
NM_001481.3(GAS8):c.91-20G>C rs747219840 0.00001
NM_001481.3(GAS8):c.987A>G (p.Glu329=) rs758642844 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_003114.5(SPAG1):c.1535+16T>C rs772920023 0.00001
NM_003114.5(SPAG1):c.1688+18G>C rs763258602 0.00001
NM_003114.5(SPAG1):c.2281-8T>C rs750609991 0.00001
NM_003114.5(SPAG1):c.2448C>T (p.Leu816=) rs781566569 0.00001
NM_003114.5(SPAG1):c.2514G>A (p.Pro838=) rs752704151 0.00001
NM_003114.5(SPAG1):c.2625C>T (p.Tyr875=) rs760624535 0.00001
NM_003114.5(SPAG1):c.648A>C (p.Gly216=) rs769916466 0.00001
NM_003114.5(SPAG1):c.855A>T (p.Thr285=) rs753349181 0.00001
NM_003611.3(OFD1):c.13-7C>A rs761622748 0.00001
NM_003611.3(OFD1):c.1317A>G (p.Leu439=) rs907245341 0.00001
NM_003611.3(OFD1):c.1365A>G (p.Lys455=) rs1395917057 0.00001
NM_003611.3(OFD1):c.1497G>A (p.Glu499=) rs912035192 0.00001
NM_003611.3(OFD1):c.156A>T (p.Val52=) rs779489279 0.00001
NM_003611.3(OFD1):c.1617T>G (p.Val539=) rs1156292139 0.00001
NM_003611.3(OFD1):c.1654+13T>A rs756014664 0.00001
NM_003611.3(OFD1):c.1737G>A (p.Val579=) rs766430580 0.00001
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) rs1225998238 0.00001
NM_003611.3(OFD1):c.1848G>A (p.Val616=) rs1200724381 0.00001
NM_003611.3(OFD1):c.1947C>T (p.Phe649=) rs771499971 0.00001
NM_003611.3(OFD1):c.198G>A (p.Gly66=) rs776103115 0.00001
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) rs775705991 0.00001
NM_003611.3(OFD1):c.2148A>G (p.Ala716=) rs1183295175 0.00001
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) rs759468353 0.00001
NM_003611.3(OFD1):c.255T>C (p.Cys85=) rs766158020 0.00001
NM_003611.3(OFD1):c.2710G>A (p.Val904Ile) rs775451384 0.00001
NM_003611.3(OFD1):c.2970G>A (p.Thr990=) rs1602946302 0.00001
NM_003611.3(OFD1):c.345T>G (p.Ile115Met) rs751918276 0.00001
NM_003611.3(OFD1):c.387A>G (p.Ser129=) rs1471986431 0.00001
NM_003611.3(OFD1):c.417T>C (p.Phe139=) rs770850686 0.00001
NM_003611.3(OFD1):c.495G>C (p.Ser165=) rs764608728 0.00001
NM_003611.3(OFD1):c.518-5A>G rs754852025 0.00001
NM_003611.3(OFD1):c.579C>T (p.Phe193=) rs780256374 0.00001
NM_003611.3(OFD1):c.655-9A>G rs758500578 0.00001
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868 0.00001
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732 0.00001
NM_003611.3(OFD1):c.729C>T (p.Thr243=) rs1254615288 0.00001
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln) rs146279923 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_006642.5(SDCCAG8):c.1357-20A>G rs200921543 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=) rs757292520 0.00001
NM_006642.5(SDCCAG8):c.1527G>A (p.Gln509=) rs2077756382 0.00001
NM_006642.5(SDCCAG8):c.1587C>T (p.Gly529=) rs144194469 0.00001
NM_006642.5(SDCCAG8):c.1914A>G (p.Leu638=) rs756352013 0.00001
NM_006642.5(SDCCAG8):c.198C>T (p.Pro66=) rs201715098 0.00001
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=) rs754838222 0.00001
NM_006642.5(SDCCAG8):c.2031G>A (p.Leu677=) rs201112344 0.00001
NM_006642.5(SDCCAG8):c.2055C>T (p.Asn685=) rs748909525 0.00001
NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=) rs952300030 0.00001
NM_006642.5(SDCCAG8):c.2085G>T (p.Ser695=) rs1239787306 0.00001
NM_006642.5(SDCCAG8):c.306+17C>T rs2068044491 0.00001
NM_006642.5(SDCCAG8):c.306+8T>C rs755109862 0.00001
NM_006642.5(SDCCAG8):c.517C>T (p.Leu173=) rs373877739 0.00001
NM_006642.5(SDCCAG8):c.67+18T>G rs1196615059 0.00001
NM_006642.5(SDCCAG8):c.740+11A>C rs1047427016 0.00001
NM_006642.5(SDCCAG8):c.858T>C (p.Cys286=) rs1376976473 0.00001
NM_006642.5(SDCCAG8):c.929+13C>G rs201615763 0.00001
NM_012144.4(DNAI1):c.1020-14A>T rs777973486 0.00001
NM_012144.4(DNAI1):c.1064-4G>A rs1254460885 0.00001
NM_012144.4(DNAI1):c.108A>G (p.Gly36=) rs774972481 0.00001
NM_012144.4(DNAI1):c.1158C>T (p.Val386=) rs1824938563 0.00001
NM_012144.4(DNAI1):c.1176C>T (p.His392=) rs1300176358 0.00001
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=) rs1368857115 0.00001
NM_012144.4(DNAI1):c.1311+8A>G rs570716480 0.00001
NM_012144.4(DNAI1):c.1312-10G>A rs752862667 0.00001
NM_012144.4(DNAI1):c.1312-4T>G rs751375253 0.00001
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=) rs1175634371 0.00001
NM_012144.4(DNAI1):c.1374C>G (p.Gly458=) rs772610592 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1402-4A>G rs761735222 0.00001
NM_012144.4(DNAI1):c.1410G>A (p.Leu470=) rs374506251 0.00001
NM_012144.4(DNAI1):c.1432C>T (p.Leu478=) rs1825082891 0.00001
NM_012144.4(DNAI1):c.1440G>A (p.Val480=) rs1186642679 0.00001
NM_012144.4(DNAI1):c.1470G>T (p.Gly490=) rs888186483 0.00001
NM_012144.4(DNAI1):c.1489+8C>A rs547508610 0.00001
NM_012144.4(DNAI1):c.1490-7T>C rs1587090777 0.00001
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=) rs751010917 0.00001
NM_012144.4(DNAI1):c.1569+10C>T rs1168786289 0.00001
NM_012144.4(DNAI1):c.1587C>T (p.Ser529=) rs1204149839 0.00001
NM_012144.4(DNAI1):c.1596C>T (p.Phe532=) rs1384757596 0.00001
NM_012144.4(DNAI1):c.1614C>A (p.Ala538=) rs1201989652 0.00001
NM_012144.4(DNAI1):c.1638G>A (p.Val546=) rs1825132822 0.00001
NM_012144.4(DNAI1):c.1650A>C (p.Pro550=) rs751744463 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1692A>G (p.Thr564=) rs778444720 0.00001
NM_012144.4(DNAI1):c.169T>C (p.Leu57=) rs779175158 0.00001
NM_012144.4(DNAI1):c.1713C>T (p.Thr571=) rs770312736 0.00001
NM_012144.4(DNAI1):c.1719-11C>T rs774758389 0.00001
NM_012144.4(DNAI1):c.1725G>A (p.Pro575=) rs772459151 0.00001
NM_012144.4(DNAI1):c.1752C>T (p.Ala584=) rs374753474 0.00001
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=) rs201746512 0.00001
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=) rs767207402 0.00001
NM_012144.4(DNAI1):c.1911C>T (p.Phe637=) rs1825189433 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.1968C>T (p.Leu656=) rs772985657 0.00001
NM_012144.4(DNAI1):c.2002-6C>T rs1174622504 0.00001
NM_012144.4(DNAI1):c.2002-8C>T rs886038585 0.00001
NM_012144.4(DNAI1):c.2019G>A (p.Glu673=) rs576215372 0.00001
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=) rs1377892484 0.00001
NM_012144.4(DNAI1):c.2073G>A (p.Leu691=) rs780268562 0.00001
NM_012144.4(DNAI1):c.27C>T (p.Pro9=) rs755692713 0.00001
NM_012144.4(DNAI1):c.282T>C (p.Ile94=) rs374541022 0.00001
NM_012144.4(DNAI1):c.372C>T (p.Arg124=) rs765026554 0.00001
NM_012144.4(DNAI1):c.389-15C>T rs886063881 0.00001
NM_012144.4(DNAI1):c.389-7T>C rs1824553084 0.00001
NM_012144.4(DNAI1):c.48+9C>G rs746021545 0.00001
NM_012144.4(DNAI1):c.501+16G>A rs373496626 0.00001
NM_012144.4(DNAI1):c.591G>A (p.Arg197=) rs775975599 0.00001
NM_012144.4(DNAI1):c.622-6C>T rs1416045438 0.00001
NM_012144.4(DNAI1):c.636G>A (p.Gln212=) rs758269785 0.00001
NM_012144.4(DNAI1):c.681+7C>A rs200424920 0.00001
NM_012144.4(DNAI1):c.682-12A>G rs755730248 0.00001
NM_012144.4(DNAI1):c.708G>A (p.Glu236=) rs765581497 0.00001
NM_012144.4(DNAI1):c.81+17_81+18dup rs779274308 0.00001
NM_012144.4(DNAI1):c.810G>A (p.Glu270=) rs200945732 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012210.4(TRIM32):c.114C>T (p.His38=) rs761012752 0.00001
NM_012210.4(TRIM32):c.1161C>T (p.Val387=) rs751224092 0.00001
NM_012210.4(TRIM32):c.1245T>C (p.Asp415=) rs1297665633 0.00001
NM_012210.4(TRIM32):c.1269G>A (p.Gly423=) rs1335843396 0.00001
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=) rs1372713940 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1437A>T (p.Pro479=) rs1861046990 0.00001
NM_012210.4(TRIM32):c.1578C>T (p.Thr526=) rs778620127 0.00001
NM_012210.4(TRIM32):c.15A>C (p.Ala5=) rs1435764832 0.00001
NM_012210.4(TRIM32):c.270G>A (p.Gly90=) rs369862143 0.00001
NM_012210.4(TRIM32):c.273C>T (p.Leu91=) rs766289627 0.00001
NM_012210.4(TRIM32):c.375G>A (p.Glu125=) rs780765510 0.00001
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_012210.4(TRIM32):c.555C>G (p.Leu185=) rs757526804 0.00001
NM_012210.4(TRIM32):c.678C>T (p.Tyr226=) rs398124253 0.00001
NM_012210.4(TRIM32):c.681G>A (p.Leu227=) rs779933628 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.756A>G (p.Ala252=) rs1307339518 0.00001
NM_012210.4(TRIM32):c.762G>A (p.Leu254=) rs747057835 0.00001
NM_012210.4(TRIM32):c.795C>G (p.Leu265=) rs756049046 0.00001
NM_012210.4(TRIM32):c.823C>T (p.Leu275=) rs555915611 0.00001
NM_012210.4(TRIM32):c.858T>C (p.Val286=) rs762342489 0.00001
NM_012210.4(TRIM32):c.90G>A (p.Glu30=) rs534259071 0.00001
NM_012210.4(TRIM32):c.948C>T (p.Ala316=) rs1351064837 0.00001
NM_012210.4(TRIM32):c.99T>C (p.Arg33=) rs1057202035 0.00001
NM_012472.6(DNAAF11):c.1020C>T (p.Tyr340=) rs745624673 0.00001
NM_012472.6(DNAAF11):c.11-10T>C rs781574679 0.00001
NM_012472.6(DNAAF11):c.1284G>A (p.Val428=) rs1370395409 0.00001
NM_012472.6(DNAAF11):c.633C>T (p.Tyr211=) rs750603177 0.00001
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) rs774194116 0.00001
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln) rs143501631 0.00001
NM_014704.4(CEP104):c.1659+8C>T rs778868893 0.00001
NM_014704.4(CEP104):c.2160A>G (p.Glu720=) rs754348247 0.00001
NM_014704.4(CEP104):c.2514G>A (p.Pro838=) rs578262183 0.00001
NM_014704.4(CEP104):c.729G>A (p.Leu243=) rs897283929 0.00001
NM_014714.4(IFT140):c.1009+11C>T rs761927308 0.00001
NM_014714.4(IFT140):c.1009+19G>A rs1193125251 0.00001
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) rs556379159 0.00001
NM_014714.4(IFT140):c.1072C>T (p.Leu358=) rs2034869421 0.00001
NM_014714.4(IFT140):c.1077C>T (p.Gly359=) rs757481448 0.00001
NM_014714.4(IFT140):c.1125C>T (p.Thr375=) rs771792178 0.00001
NM_014714.4(IFT140):c.1155+8C>T rs757107689 0.00001
NM_014714.4(IFT140):c.1156-18T>C rs1433160902 0.00001
NM_014714.4(IFT140):c.1156-8A>C rs1468612818 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1294C>T (p.Leu432=) rs1482041898 0.00001
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) rs1045923210 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1326C>T (p.Thr442=) rs748014543 0.00001
NM_014714.4(IFT140):c.1338C>T (p.Ile446=) rs781745982 0.00001
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) rs771279803 0.00001
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) rs776789813 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1524+17C>G rs764602004 0.00001
NM_014714.4(IFT140):c.1527G>A (p.Gly509=) rs777713841 0.00001
NM_014714.4(IFT140):c.1554G>A (p.Ser518=) rs774109456 0.00001
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094 0.00001
NM_014714.4(IFT140):c.1602G>C (p.Leu534=) rs778106074 0.00001
NM_014714.4(IFT140):c.1611G>C (p.Gly537=) rs745415176 0.00001
NM_014714.4(IFT140):c.1644T>C (p.Leu548=) rs761146898 0.00001
NM_014714.4(IFT140):c.1652+20A>C rs1300522608 0.00001
NM_014714.4(IFT140):c.1707G>A (p.Val569=) rs1463801449 0.00001
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn) rs200208525 0.00001
NM_014714.4(IFT140):c.1856T>C (p.Ile619Thr) rs759612242 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1938T>C (p.Tyr646=) rs752166799 0.00001
NM_014714.4(IFT140):c.1965G>A (p.Gln655=) rs571683311 0.00001
NM_014714.4(IFT140):c.1971G>A (p.Glu657=) rs1044429755 0.00001
NM_014714.4(IFT140):c.1974C>T (p.Pro658=) rs768412481 0.00001
NM_014714.4(IFT140):c.1977G>A (p.Arg659=) rs1165625635 0.00001
NM_014714.4(IFT140):c.2067+7T>G rs775453495 0.00001
NM_014714.4(IFT140):c.2169G>A (p.Met723Ile) rs777432507 0.00001
NM_014714.4(IFT140):c.2334C>T (p.His778=) rs774009074 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.2400-15C>T rs1342261365 0.00001
NM_014714.4(IFT140):c.2406C>T (p.Ala802=) rs1164268369 0.00001
NM_014714.4(IFT140):c.2529G>A (p.Pro843=) rs1045253033 0.00001
NM_014714.4(IFT140):c.2577+10G>A rs763509815 0.00001
NM_014714.4(IFT140):c.2577+16C>A rs1168134505 0.00001
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612 0.00001
NM_014714.4(IFT140):c.2619C>T (p.Asp873=) rs199762967 0.00001
NM_014714.4(IFT140):c.2646G>A (p.Ala882=) rs149265820 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2706C>T (p.Ser902=) rs533750683 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2751C>T (p.Cys917=) rs368887768 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2796C>T (p.Phe932=) rs765939872 0.00001
NM_014714.4(IFT140):c.2862T>C (p.Asp954=) rs747349401 0.00001
NM_014714.4(IFT140):c.2865-5C>T rs779711939 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=) rs777862012 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2970C>T (p.Ile990=) rs375635975 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=) rs753196603 0.00001
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=) rs545658252 0.00001
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=) rs2040617691 0.00001
NM_014714.4(IFT140):c.3141+13C>T rs1189568433 0.00001
NM_014714.4(IFT140):c.3141+7C>T rs754889709 0.00001
NM_014714.4(IFT140):c.3165C>A (p.Leu1055=) rs1189584534 0.00001
NM_014714.4(IFT140):c.3204C>T (p.Ile1068=) rs764399101 0.00001
NM_014714.4(IFT140):c.321C>T (p.Thr107=) rs374346968 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3270+16C>T rs1482911649 0.00001
NM_014714.4(IFT140):c.3271-10G>A rs764938152 0.00001
NM_014714.4(IFT140):c.3271-17G>T rs1297843458 0.00001
NM_014714.4(IFT140):c.3303C>T (p.Ala1101=) rs771939015 0.00001
NM_014714.4(IFT140):c.3327C>T (p.Ala1109=) rs1264860860 0.00001
NM_014714.4(IFT140):c.3336C>T (p.Leu1112=) rs372114503 0.00001
NM_014714.4(IFT140):c.3399C>T (p.Phe1133=) rs902953810 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.352C>T (p.Leu118=) rs201381885 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3669G>A (p.Arg1223=) rs2040482751 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) rs767997025 0.00001
NM_014714.4(IFT140):c.3705G>A (p.Thr1235=) rs748820042 0.00001
NM_014714.4(IFT140):c.3760C>T (p.Leu1254=) rs750847611 0.00001
NM_014714.4(IFT140):c.3762G>A (p.Leu1254=) rs1387148284 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3810C>T (p.Ile1270=) rs557923123 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.3873+19A>G rs894285113 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3885T>C (p.Asp1295=) rs140443906 0.00001
NM_014714.4(IFT140):c.3912C>T (p.His1304=) rs143385994 0.00001
NM_014714.4(IFT140):c.3918G>A (p.Ala1306=) rs767354864 0.00001
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=) rs181794285 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4040+20G>A rs758371286 0.00001
NM_014714.4(IFT140):c.4041-6C>T rs1596295050 0.00001
NM_014714.4(IFT140):c.4044G>A (p.Thr1348=) rs1034482228 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4146G>A (p.Leu1382=) rs904518816 0.00001
NM_014714.4(IFT140):c.4182+18C>G rs371900494 0.00001
NM_014714.4(IFT140):c.4183-16T>G rs759566930 0.00001
NM_014714.4(IFT140):c.4195C>T (p.Leu1399=) rs910636195 0.00001
NM_014714.4(IFT140):c.4200G>A (p.Glu1400=) rs986247813 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) rs535810761 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=) rs779634878 0.00001
NM_014714.4(IFT140):c.4362G>T (p.Val1454=) rs763213109 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.441G>A (p.Glu147=) rs62040002 0.00001
NM_014714.4(IFT140):c.609G>A (p.Leu203=) rs1032107314 0.00001
NM_014714.4(IFT140):c.621C>T (p.Val207=) rs1257821160 0.00001
NM_014714.4(IFT140):c.635-20G>A rs770147783 0.00001
NM_014714.4(IFT140):c.642G>A (p.Val214=) rs765268078 0.00001
NM_014714.4(IFT140):c.849C>T (p.Ile283=) rs563162000 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.885C>T (p.Val295=) rs775444392 0.00001
NM_014714.4(IFT140):c.900C>T (p.Leu300=) rs1282920198 0.00001
NM_014714.4(IFT140):c.903-13T>G rs748649022 0.00001
NM_014956.5(CEP164):c.1047G>A (p.Glu349=) rs777528550 0.00001
NM_014956.5(CEP164):c.1071G>A (p.Glu357=) rs1247651761 0.00001
NM_014956.5(CEP164):c.1104A>G (p.Pro368=) rs2042179714 0.00001
NM_014956.5(CEP164):c.1143C>T (p.Asp381=) rs375647094 0.00001
NM_014956.5(CEP164):c.1152+8A>T rs1277594291 0.00001
NM_014956.5(CEP164):c.1153-18G>A rs1490620046 0.00001
NM_014956.5(CEP164):c.1239C>T (p.Phe413=) rs535461023 0.00001
NM_014956.5(CEP164):c.1317+11G>A rs370606132 0.00001
NM_014956.5(CEP164):c.1318-14C>T rs1397653828 0.00001
NM_014956.5(CEP164):c.1326A>G (p.Gln442=) rs1052978293 0.00001
NM_014956.5(CEP164):c.1409+17G>T rs773833785 0.00001
NM_014956.5(CEP164):c.1413A>G (p.Leu471=) rs1196721000 0.00001
NM_014956.5(CEP164):c.1479G>A (p.Glu493=) rs778285049 0.00001
NM_014956.5(CEP164):c.1577+17G>A rs1382927463 0.00001
NM_014956.5(CEP164):c.1716T>A (p.Ser572=) rs2043508189 0.00001
NM_014956.5(CEP164):c.171A>G (p.Pro57=) rs2038560708 0.00001
NM_014956.5(CEP164):c.1809C>T (p.Leu603=) rs372777703 0.00001
NM_014956.5(CEP164):c.1934+12C>T rs952168733 0.00001
NM_014956.5(CEP164):c.194+15G>A rs1423887740 0.00001
NM_014956.5(CEP164):c.194+19C>T rs374708089 0.00001
NM_014956.5(CEP164):c.2118A>G (p.Gln706=) rs771918921 0.00001
NM_014956.5(CEP164):c.2268A>G (p.Glu756=) rs750395570 0.00001
NM_014956.5(CEP164):c.2284-18C>T rs1423509328 0.00001
NM_014956.5(CEP164):c.2448C>T (p.His816=) rs183208808 0.00001
NM_014956.5(CEP164):c.2469T>C (p.Tyr823=) rs779997647 0.00001
NM_014956.5(CEP164):c.2493+16T>C rs772114437 0.00001
NM_014956.5(CEP164):c.2616+18C>T rs754039492 0.00001
NM_014956.5(CEP164):c.2736C>T (p.Asp912=) rs368860298 0.00001
NM_014956.5(CEP164):c.276T>C (p.Tyr92=) rs373403222 0.00001
NM_014956.5(CEP164):c.2845-15T>C rs757233980 0.00001
NM_014956.5(CEP164):c.2850G>A (p.Glu950=) rs942030231 0.00001
NM_014956.5(CEP164):c.2914-9T>G rs201787792 0.00001
NM_014956.5(CEP164):c.3093C>T (p.Ser1031=) rs766181500 0.00001
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_014956.5(CEP164):c.3159T>G (p.Ala1053=) rs2045422912 0.00001
NM_014956.5(CEP164):c.3162C>T (p.Ser1054=) rs777528751 0.00001
NM_014956.5(CEP164):c.3217-18T>C rs1474346753 0.00001
NM_014956.5(CEP164):c.3234G>A (p.Val1078=) rs929056136 0.00001
NM_014956.5(CEP164):c.3237T>G (p.Ser1079=) rs780381724 0.00001
NM_014956.5(CEP164):c.3278+15C>A rs2045507329 0.00001
NM_014956.5(CEP164):c.3279-12C>T rs749577674 0.00001
NM_014956.5(CEP164):c.3402C>T (p.Ala1134=) rs779234423 0.00001
NM_014956.5(CEP164):c.3531G>A (p.Ser1177=) rs776927406 0.00001
NM_014956.5(CEP164):c.3546C>G (p.Gly1182=) rs1412204537 0.00001
NM_014956.5(CEP164):c.3558G>A (p.Leu1186=) rs1295395116 0.00001
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=) rs371592315 0.00001
NM_014956.5(CEP164):c.3749-4T>C rs1198441378 0.00001
NM_014956.5(CEP164):c.3873G>A (p.Pro1291=) rs777863291 0.00001
NM_014956.5(CEP164):c.3876G>A (p.Pro1292=) rs1319957926 0.00001
NM_014956.5(CEP164):c.3888C>T (p.Ser1296=) rs2047118133 0.00001
NM_014956.5(CEP164):c.394-16G>A rs367677064 0.00001
NM_014956.5(CEP164):c.394-18A>G rs201463212 0.00001
NM_014956.5(CEP164):c.3993C>G (p.Ser1331=) rs768029564 0.00001
NM_014956.5(CEP164):c.4163+13G>C rs981960517 0.00001
NM_014956.5(CEP164):c.4164-12C>T rs1003217826 0.00001
NM_014956.5(CEP164):c.4180C>T (p.Leu1394=) rs895081745 0.00001
NM_014956.5(CEP164):c.4233C>A (p.Gly1411=) rs779295738 0.00001
NM_014956.5(CEP164):c.4248C>T (p.Asn1416=) rs1367798627 0.00001
NM_014956.5(CEP164):c.504C>T (p.Ser168=) rs2041032743 0.00001
NM_014956.5(CEP164):c.552+16T>C rs753063818 0.00001
NM_014956.5(CEP164):c.552+19G>A rs756643754 0.00001
NM_014956.5(CEP164):c.591T>C (p.Gly197=) rs1401888374 0.00001
NM_014956.5(CEP164):c.627C>T (p.Leu209=) rs754357397 0.00001
NM_014956.5(CEP164):c.900G>C (p.Gly300=) rs754494197 0.00001
NM_015102.5(NPHP4):c.1725T>C (p.Pro575=) rs376871620 0.00001
NM_015102.5(NPHP4):c.2612-19C>T rs370230211 0.00001
NM_015102.5(NPHP4):c.3044+11_3044+13del rs769643669 0.00001
NM_015102.5(NPHP4):c.3316-15G>A rs745974669 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1030-8C>T rs907172288 0.00001
NM_015272.5(RPGRIP1L):c.1030-9T>C rs779543814 0.00001
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=) rs766514324 0.00001
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=) rs201763037 0.00001
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=) rs779375492 0.00001
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=) rs536376284 0.00001
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=) rs759115653 0.00001
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=) rs1158246946 0.00001
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=) rs1033613104 0.00001
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=) rs754700219 0.00001
NM_015272.5(RPGRIP1L):c.1402-13T>G rs940616503 0.00001
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=) rs748560707 0.00001
NM_015272.5(RPGRIP1L):c.1581+10T>C rs775724713 0.00001
NM_015272.5(RPGRIP1L):c.1582-7T>G rs887053497 0.00001
NM_015272.5(RPGRIP1L):c.1700-7C>T rs1211017142 0.00001
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=) rs767506927 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=) rs765009772 0.00001
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=) rs138097384 0.00001
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=) rs371258046 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=) rs771201854 0.00001
NM_015272.5(RPGRIP1L):c.2153-6T>C rs371576599 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=) rs1013531093 0.00001
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=) rs1966519480 0.00001
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=) rs746197640 0.00001
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) rs794727193 0.00001
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101 0.00001
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=) rs747445819 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=) rs1357658306 0.00001
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=) rs566547156 0.00001
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=) rs771569223 0.00001
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=) rs748285506 0.00001
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=) rs767271797 0.00001
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=) rs1417235196 0.00001
NM_015272.5(RPGRIP1L):c.2684-7T>C rs745815763 0.00001
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=) rs774787183 0.00001
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=) rs768724944 0.00001
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=) rs1412609114 0.00001
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=) rs1966207157 0.00001
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404 0.00001
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572 0.00001
NM_015272.5(RPGRIP1L):c.2875-17T>G rs755648829 0.00001
NM_015272.5(RPGRIP1L):c.2875-7G>A rs778196818 0.00001
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=) rs765369037 0.00001
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=) rs761869488 0.00001
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=) rs1254751869 0.00001
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=) rs771166557 0.00001
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039 0.00001
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=) rs762829599 0.00001
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=) rs1309372176 0.00001
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=) rs201711256 0.00001
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=) rs375177321 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=) rs1304423187 0.00001
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=) rs1017593402 0.00001
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=) rs1388851938 0.00001
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=) rs1253988919 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3617-10T>C rs766297944 0.00001
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=) rs1189160289 0.00001
NM_015272.5(RPGRIP1L):c.3701+12C>A rs931566897 0.00001
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=) rs538306358 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=) rs780364836 0.00001
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=) rs1245403227 0.00001
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=) rs1432386308 0.00001
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=) rs760294595 0.00001
NM_015272.5(RPGRIP1L):c.3836-15C>A rs777880156 0.00001
NM_015272.5(RPGRIP1L):c.3836-20T>C rs1399609128 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=) rs752951179 0.00001
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=) rs759792690 0.00001
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=) rs766853230 0.00001
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=) rs1352245119 0.00001
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=) rs1046124483 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=) rs750991343 0.00001
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=) rs924608253 0.00001
NM_015272.5(RPGRIP1L):c.632+9T>C rs1970128165 0.00001
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=) rs376808910 0.00001
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=) rs200723710 0.00001
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=) rs1970032678 0.00001
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=) rs1253337508 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=) rs371710677 0.00001
NM_015272.5(RPGRIP1L):c.777-4G>A rs374490708 0.00001
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=) rs1276297529 0.00001
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=) rs1178591734 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=) rs1313242175 0.00001
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=) rs1454166907 0.00001
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=) rs768545485 0.00001
NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=) rs554676148 0.00001
NM_015512.5(DNAH1):c.10383C>T (p.Ser3461=) rs774787337 0.00001
NM_015512.5(DNAH1):c.10941C>T (p.Asn3647=) rs757317940 0.00001
NM_015512.5(DNAH1):c.11202G>A (p.Leu3734=) rs1297941367 0.00001
NM_015512.5(DNAH1):c.11307G>A (p.Lys3769=) rs767374145 0.00001
NM_015512.5(DNAH1):c.11586C>T (p.Asp3862=) rs1018192994 0.00001
NM_015512.5(DNAH1):c.11769G>A (p.Pro3923=) rs1024381509 0.00001
NM_015512.5(DNAH1):c.1176C>T (p.Asn392=) rs767304557 0.00001
NM_015512.5(DNAH1):c.11853C>T (p.Asp3951=) rs552681670 0.00001
NM_015512.5(DNAH1):c.11931T>A (p.Ser3977=) rs1259419226 0.00001
NM_015512.5(DNAH1):c.12093C>T (p.Tyr4031=) rs776568677 0.00001
NM_015512.5(DNAH1):c.12117A>G (p.Thr4039=) rs750973090 0.00001
NM_015512.5(DNAH1):c.12576C>T (p.Tyr4192=) rs1166558325 0.00001
NM_015512.5(DNAH1):c.12676+7G>A rs1416480233 0.00001
NM_015512.5(DNAH1):c.1704C>T (p.Ala568=) rs1206321186 0.00001
NM_015512.5(DNAH1):c.1882G>A (p.Asp628Asn) rs577852167 0.00001
NM_015512.5(DNAH1):c.1932C>T (p.Asp644=) rs375044038 0.00001
NM_015512.5(DNAH1):c.2010G>A (p.Val670=) rs374276165 0.00001
NM_015512.5(DNAH1):c.2300+8C>T rs750105161 0.00001
NM_015512.5(DNAH1):c.2376C>T (p.Ile792=) rs752578416 0.00001
NM_015512.5(DNAH1):c.2872-14T>C rs556995558 0.00001
NM_015512.5(DNAH1):c.2872-5T>C rs771276529 0.00001
NM_015512.5(DNAH1):c.2931C>T (p.Asn977=) rs377200347 0.00001
NM_015512.5(DNAH1):c.3028-6C>G rs549292053 0.00001
NM_015512.5(DNAH1):c.3144C>T (p.Ile1048=) rs886609213 0.00001
NM_015512.5(DNAH1):c.3227-6C>T rs373688652 0.00001
NM_015512.5(DNAH1):c.3261C>T (p.Arg1087=) rs1396523384 0.00001
NM_015512.5(DNAH1):c.3552C>T (p.Thr1184=) rs1293902980 0.00001
NM_015512.5(DNAH1):c.3594C>T (p.Asp1198=) rs561641586 0.00001
NM_015512.5(DNAH1):c.3819C>T (p.Ile1273=) rs773471726 0.00001
NM_015512.5(DNAH1):c.3930G>A (p.Val1310=) rs374009824 0.00001
NM_015512.5(DNAH1):c.4044C>T (p.Ala1348=) rs376898687 0.00001
NM_015512.5(DNAH1):c.42C>T (p.Thr14=) rs775936085 0.00001
NM_015512.5(DNAH1):c.4407+8T>C rs767143736 0.00001
NM_015512.5(DNAH1):c.4818C>T (p.Asn1606=) rs1198918082 0.00001
NM_015512.5(DNAH1):c.5004T>G (p.Gly1668=) rs746782436 0.00001
NM_015512.5(DNAH1):c.5055G>A (p.Pro1685=) rs761433531 0.00001
NM_015512.5(DNAH1):c.5095-11G>C rs1199797053 0.00001
NM_015512.5(DNAH1):c.5451G>A (p.Thr1817=) rs372963290 0.00001
NM_015512.5(DNAH1):c.5518+10G>A rs201549764 0.00001
NM_015512.5(DNAH1):c.5694C>T (p.Tyr1898=) rs1439300472 0.00001
NM_015512.5(DNAH1):c.5766-8C>T rs757582888 0.00001
NM_015512.5(DNAH1):c.582-19C>T rs1188626824 0.00001
NM_015512.5(DNAH1):c.582-6G>T rs1453796788 0.00001
NM_015512.5(DNAH1):c.582-9C>T rs779054079 0.00001
NM_015512.5(DNAH1):c.6000C>A (p.Val2000=) rs747980793 0.00001
NM_015512.5(DNAH1):c.6180C>T (p.Ile2060=) rs369225035 0.00001
NM_015512.5(DNAH1):c.6183C>T (p.Ala2061=) rs769372759 0.00001
NM_015512.5(DNAH1):c.639C>T (p.Ile213=) rs548996613 0.00001
NM_015512.5(DNAH1):c.6666+9C>T rs1044782695 0.00001
NM_015512.5(DNAH1):c.6723C>G (p.Leu2241=) rs371686959 0.00001
NM_015512.5(DNAH1):c.6827+15C>T rs767562933 0.00001
NM_015512.5(DNAH1):c.7199-20C>T rs369229247 0.00001
NM_015512.5(DNAH1):c.7467C>T (p.Phe2489=) rs753364131 0.00001
NM_015512.5(DNAH1):c.7581C>T (p.Ser2527=) rs777693111 0.00001
NM_015512.5(DNAH1):c.7881G>A (p.Lys2627=) rs1272690321 0.00001
NM_015512.5(DNAH1):c.8151-20T>G rs1339225413 0.00001
NM_015512.5(DNAH1):c.8217C>T (p.Ile2739=) rs571903508 0.00001
NM_015512.5(DNAH1):c.8323-15G>A rs745864753 0.00001
NM_015512.5(DNAH1):c.8394C>T (p.Arg2798=) rs1559558291 0.00001
NM_015512.5(DNAH1):c.8448C>T (p.Ile2816=) rs769821553 0.00001
NM_015512.5(DNAH1):c.8691G>A (p.Glu2897=) rs746750164 0.00001
NM_015512.5(DNAH1):c.871+16C>G rs755444441 0.00001
NM_015512.5(DNAH1):c.9048C>T (p.Ile3016=) rs778190768 0.00001
NM_015512.5(DNAH1):c.9072C>T (p.Ala3024=) rs779601869 0.00001
NM_015512.5(DNAH1):c.915C>T (p.Val305=) rs780717577 0.00001
NM_015512.5(DNAH1):c.9172-10C>T rs141126342 0.00001
NM_015512.5(DNAH1):c.9258C>T (p.Asp3086=) rs780085331 0.00001
NM_015512.5(DNAH1):c.9639C>T (p.Asn3213=) rs573452233 0.00001
NM_015512.5(DNAH1):c.9741+17G>A rs774979188 0.00001
NM_015512.5(DNAH1):c.984G>A (p.Val328=) rs749937850 0.00001
NM_015512.5(DNAH1):c.9915G>A (p.Thr3305=) rs751629760 0.00001
NM_015631.6(TCTN3):c.1298+17G>A rs776775920 0.00001
NM_015631.6(TCTN3):c.1299-19C>T rs751339831 0.00001
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=) rs2097944339 0.00001
NM_015631.6(TCTN3):c.1590+15A>G rs781078051 0.00001
NM_015631.6(TCTN3):c.222G>A (p.Ser74=) rs913092788 0.00001
NM_015631.6(TCTN3):c.257-11T>G rs1201207763 0.00001
NM_015631.6(TCTN3):c.499+11A>G rs1428675552 0.00001
NM_015631.6(TCTN3):c.499+18G>A rs1386147381 0.00001
NM_015631.6(TCTN3):c.507A>G (p.Leu169=) rs1566075059 0.00001
NM_015631.6(TCTN3):c.531G>A (p.Lys177=) rs199774247 0.00001
NM_015631.6(TCTN3):c.549C>T (p.Phe183=) rs1403001274 0.00001
NM_015631.6(TCTN3):c.627+18G>A rs763302632 0.00001
NM_015631.6(TCTN3):c.705T>C (p.Ala235=) rs1251898935 0.00001
NM_015631.6(TCTN3):c.889-15T>G rs760597184 0.00001
NM_015631.6(TCTN3):c.889-9C>T rs924437747 0.00001
NM_015631.6(TCTN3):c.945C>T (p.Asn315=) rs763364836 0.00001
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377 0.00001
NM_015662.3(IFT172):c.108G>A (p.Val36=) rs1251466028 0.00001
NM_015662.3(IFT172):c.1092A>G (p.Gly364=) rs575297457 0.00001
NM_015662.3(IFT172):c.1242C>T (p.Ala414=) rs970385102 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1371G>A (p.Lys457=) rs759436301 0.00001
NM_015662.3(IFT172):c.1411+17C>T rs1333168893 0.00001
NM_015662.3(IFT172):c.141A>G (p.Gly47=) rs759962675 0.00001
NM_015662.3(IFT172):c.1443C>T (p.Thr481=) rs780600337 0.00001
NM_015662.3(IFT172):c.1512C>T (p.Asp504=) rs746321444 0.00001
NM_015662.3(IFT172):c.1572C>T (p.Asn524=) rs1208242658 0.00001
NM_015662.3(IFT172):c.1719C>T (p.Gly573=) rs373009930 0.00001
NM_015662.3(IFT172):c.1731C>G (p.Thr577=) rs369849820 0.00001
NM_015662.3(IFT172):c.1773A>G (p.Thr591=) rs1415381763 0.00001
NM_015662.3(IFT172):c.183+7A>G rs1357322553 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.1935G>A (p.Glu645=) rs755341436 0.00001
NM_015662.3(IFT172):c.2022+13C>T rs905264258 0.00001
NM_015662.3(IFT172):c.2022+7A>G rs773433922 0.00001
NM_015662.3(IFT172):c.2023-18C>T rs780624216 0.00001
NM_015662.3(IFT172):c.2023-7C>T rs758190461 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.2115+15G>A rs764321777 0.00001
NM_015662.3(IFT172):c.2127G>A (p.Glu709=) rs752839444 0.00001
NM_015662.3(IFT172):c.2175C>T (p.Ile725=) rs535676099 0.00001
NM_015662.3(IFT172):c.2208G>A (p.Leu736=) rs1235366375 0.00001
NM_015662.3(IFT172):c.2427G>A (p.Gly809=) rs760908963 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.2601G>A (p.Gln867=) rs1406843732 0.00001
NM_015662.3(IFT172):c.2634C>T (p.Ile878=) rs761022629 0.00001
NM_015662.3(IFT172):c.2643-18C>A rs922995821 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2724G>A (p.Arg908=) rs367662405 0.00001
NM_015662.3(IFT172):c.2751C>T (p.Leu917=) rs777958898 0.00001
NM_015662.3(IFT172):c.2796G>A (p.Glu932=) rs566830176 0.00001
NM_015662.3(IFT172):c.2919A>G (p.Leu973=) rs1480327016 0.00001
NM_015662.3(IFT172):c.2975+8G>A rs750348734 0.00001
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=) rs757083011 0.00001
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=) rs1029240622 0.00001
NM_015662.3(IFT172):c.336+20C>G rs1412070265 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=) rs369025741 0.00001
NM_015662.3(IFT172):c.3465+10T>C rs780429245 0.00001
NM_015662.3(IFT172):c.3465+9G>A rs1665997491 0.00001
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.3531-11C>A rs1489039902 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.3582C>T (p.His1194=) rs376037251 0.00001
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=) rs768132019 0.00001
NM_015662.3(IFT172):c.363G>A (p.Pro121=) rs761759245 0.00001
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=) rs370204045 0.00001
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=) rs759026392 0.00001
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=) rs373382907 0.00001
NM_015662.3(IFT172):c.3821+20G>T rs747215115 0.00001
NM_015662.3(IFT172):c.3822-19A>T rs1204452162 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=) rs768633686 0.00001
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=) rs1384062308 0.00001
NM_015662.3(IFT172):c.40-10G>T rs769327900 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 0.00001
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 0.00001
NM_015662.3(IFT172):c.4230G>A (p.Val1410=) rs145041736 0.00001
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=) rs754200053 0.00001
NM_015662.3(IFT172):c.42T>C (p.Asp14=) rs1668694687 0.00001
NM_015662.3(IFT172):c.4312-10C>T rs767163406 0.00001
NM_015662.3(IFT172):c.4312-9C>T rs1665420944 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4539+18C>T rs771718287 0.00001
NM_015662.3(IFT172):c.4540-13C>T rs1665265846 0.00001
NM_015662.3(IFT172):c.4540-20G>T rs538748702 0.00001
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=) rs901644807 0.00001
NM_015662.3(IFT172):c.4659+18G>A rs757297478 0.00001
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=) rs773180868 0.00001
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=) rs1237678953 0.00001
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=) rs1459018703 0.00001
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=) rs1350772419 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015662.3(IFT172):c.516A>G (p.Ala172=) rs1302439397 0.00001
NM_015662.3(IFT172):c.570+19G>A rs761066634 0.00001
NM_015662.3(IFT172):c.582T>C (p.Val194=) rs533475435 0.00001
NM_015662.3(IFT172):c.591G>A (p.Pro197=) rs747654101 0.00001
NM_015662.3(IFT172):c.690A>G (p.Gln230=) rs892639684 0.00001
NM_015662.3(IFT172):c.6C>T (p.His2=) rs1430470069 0.00001
NM_015662.3(IFT172):c.786-15C>T rs200145274 0.00001
NM_015662.3(IFT172):c.786-16A>G rs769974669 0.00001
NM_015662.3(IFT172):c.798C>T (p.Phe266=) rs755850960 0.00001
NM_015662.3(IFT172):c.909+12G>C rs752407974 0.00001
NM_015662.3(IFT172):c.936G>A (p.Gln312=) rs139291216 0.00001
NM_015681.6(B9D1):c.315C>T (p.Ala105=) rs776662206 0.00001
NM_015681.6(B9D1):c.321C>T (p.His107=) rs377672945 0.00001
NM_015681.6(B9D1):c.342-12C>T rs1365103687 0.00001
NM_015681.6(B9D1):c.472+16C>G rs375227607 0.00001
NM_015681.6(B9D1):c.64-4T>C rs749948329 0.00001
NM_015681.6(B9D1):c.99C>T (p.Cys33=) rs1910884202 0.00001
NM_015896.4(ZMYND10):c.1000-20T>C rs1050210196 0.00001
NM_015896.4(ZMYND10):c.1086C>T (p.Ser362=) rs1158414983 0.00001
NM_015896.4(ZMYND10):c.1140G>A (p.Arg380=) rs755542699 0.00001
NM_015896.4(ZMYND10):c.120G>A (p.Glu40=) rs779433836 0.00001
NM_015896.4(ZMYND10):c.1317C>T (p.Ala439=) rs762811169 0.00001
NM_015896.4(ZMYND10):c.202-16A>T rs901861503 0.00001
NM_015896.4(ZMYND10):c.319-9A>G rs369890206 0.00001
NM_015896.4(ZMYND10):c.708G>A (p.Leu236=) rs1387734363 0.00001
NM_015896.4(ZMYND10):c.993G>A (p.Leu331=) rs1575553171 0.00001
NM_015910.7(WDPCP):c.1095A>G (p.Glu365=) rs1475351110 0.00001
NM_015910.7(WDPCP):c.1101C>T (p.His367=) rs904401906 0.00001
NM_015910.7(WDPCP):c.1176G>C (p.Leu392=) rs751487031 0.00001
NM_015910.7(WDPCP):c.1242A>G (p.Gln414=) rs774367862 0.00001
NM_015910.7(WDPCP):c.1296T>C (p.Phe432=) rs752670896 0.00001
NM_015910.7(WDPCP):c.1436-18T>G rs1481284633 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1587C>T (p.Asn529=) rs763698807 0.00001
NM_015910.7(WDPCP):c.161-11C>T rs1186873665 0.00001
NM_015910.7(WDPCP):c.161-14C>T rs755586280 0.00001
NM_015910.7(WDPCP):c.161-4A>G rs745808806 0.00001
NM_015910.7(WDPCP):c.1916-14A>T rs1198215632 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 0.00001
NM_015910.7(WDPCP):c.198A>G (p.Lys66=) rs1259050276 0.00001
NM_015910.7(WDPCP):c.2078+13G>T rs771461774 0.00001
NM_015910.7(WDPCP):c.209-20C>T rs754079771 0.00001
NM_015910.7(WDPCP):c.2100T>C (p.Asn700=) rs750072605 0.00001
NM_015910.7(WDPCP):c.210G>A (p.Ala70=) rs961809737 0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=) rs769550847 0.00001
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322 0.00001
NM_015910.7(WDPCP):c.2190+8A>G rs1303386488 0.00001
NM_015910.7(WDPCP):c.2191-4G>T rs1044455747 0.00001
NM_015910.7(WDPCP):c.255A>G (p.Ser85=) rs1252079324 0.00001
NM_015910.7(WDPCP):c.282C>T (p.Asn94=) rs1700479284 0.00001
NM_015910.7(WDPCP):c.309G>A (p.Ser103=) rs758983279 0.00001
NM_015910.7(WDPCP):c.30C>T (p.Tyr10=) rs1248204391 0.00001
NM_015910.7(WDPCP):c.315A>G (p.Lys105=) rs936160193 0.00001
NM_015910.7(WDPCP):c.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.45G>C (p.Gly15=) rs1003414023 0.00001
NM_015910.7(WDPCP):c.606G>A (p.Leu202=) rs1400511137 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 0.00001
NM_015910.7(WDPCP):c.705T>C (p.His235=) rs1281696709 0.00001
NM_015910.7(WDPCP):c.75+14C>G rs544261053 0.00001
NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met) rs752309258 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016616.5(NME8):c.1140-12C>G rs1562839603 0.00001
NM_016616.5(NME8):c.1247+10A>T rs776719324 0.00001
NM_016616.5(NME8):c.171C>T (p.Asn57=) rs180763598 0.00001
NM_016616.5(NME8):c.1761A>G (p.Glu587=) rs750372750 0.00001
NM_016616.5(NME8):c.270+10T>C rs981830782 0.00001
NM_016616.5(NME8):c.271-19G>C rs1486411712 0.00001
NM_016616.5(NME8):c.271-5T>C rs1474924619 0.00001
NM_016616.5(NME8):c.33+15T>G rs746181533 0.00001
NM_016616.5(NME8):c.603T>C (p.Tyr201=) rs763951968 0.00001
NM_016616.5(NME8):c.92-9A>G rs113388202 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1074C>T (p.Cys358=) rs1411471923 0.00001
NM_017777.4(MKS1):c.1086C>T (p.Ser362=) rs748800331 0.00001
NM_017777.4(MKS1):c.1095+13A>T rs970409292 0.00001
NM_017777.4(MKS1):c.1095+19G>A rs200731008 0.00001
NM_017777.4(MKS1):c.1095+20G>C rs927474862 0.00001
NM_017777.4(MKS1):c.1096-10C>T rs766137727 0.00001
NM_017777.4(MKS1):c.114T>C (p.Phe38=) rs375861391 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1227G>A (p.Arg409=) rs755065589 0.00001
NM_017777.4(MKS1):c.1274-6G>T rs1247721124 0.00001
NM_017777.4(MKS1):c.1299G>A (p.Thr433=) rs749503564 0.00001
NM_017777.4(MKS1):c.1359T>G (p.Ser453=) rs1284188693 0.00001
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=) rs774475723 0.00001
NM_017777.4(MKS1):c.1408-10C>G rs1440068430 0.00001
NM_017777.4(MKS1):c.1408-36G>A rs755493387 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1416C>T (p.Arg472=) rs1421301211 0.00001
NM_017777.4(MKS1):c.1479G>A (p.Leu493=) rs376833168 0.00001
NM_017777.4(MKS1):c.1490+13G>A rs1261119858 0.00001
NM_017777.4(MKS1):c.1589-12C>T rs377376912 0.00001
NM_017777.4(MKS1):c.1589-7C>T rs756418206 0.00001
NM_017777.4(MKS1):c.1629G>A (p.Arg543=) rs781530535 0.00001
NM_017777.4(MKS1):c.1641G>A (p.Pro547=) rs758334200 0.00001
NM_017777.4(MKS1):c.1668C>T (p.Thr556=) rs553314050 0.00001
NM_017777.4(MKS1):c.1674C>T (p.Val558=) rs376925280 0.00001
NM_017777.4(MKS1):c.180G>A (p.Gln60=) rs1008086525 0.00001
NM_017777.4(MKS1):c.243G>A (p.Gln81=) rs1488924614 0.00001
NM_017777.4(MKS1):c.262-10G>T rs772852025 0.00001
NM_017777.4(MKS1):c.30C>A (p.Thr10=) rs576239597 0.00001
NM_017777.4(MKS1):c.515+9G>A rs752279060 0.00001
NM_017777.4(MKS1):c.516-5C>T rs1223795320 0.00001
NM_017777.4(MKS1):c.516-7C>A rs755511133 0.00001
NM_017777.4(MKS1):c.51C>T (p.Ser17=) rs1348163172 0.00001
NM_017777.4(MKS1):c.522C>T (p.Gly174=) rs780657802 0.00001
NM_017777.4(MKS1):c.628C>T (p.Leu210=) rs1451406283 0.00001
NM_017777.4(MKS1):c.639T>C (p.Tyr213=) rs746647549 0.00001
NM_017777.4(MKS1):c.672C>T (p.Val224=) rs200531517 0.00001
NM_017777.4(MKS1):c.687G>A (p.Lys229=) rs1309433422 0.00001
NM_017777.4(MKS1):c.80+18G>A rs775676586 0.00001
NM_017777.4(MKS1):c.870G>A (p.Arg290=) rs769489826 0.00001
NM_017777.4(MKS1):c.909T>C (p.Phe303=) rs764581050 0.00001
NM_017777.4(MKS1):c.916-10T>C rs750119538 0.00001
NM_017777.4(MKS1):c.958+7G>C rs1185269829 0.00001
NM_017777.4(MKS1):c.959-5C>T rs765242131 0.00001
NM_017777.4(MKS1):c.959-7C>T rs773337994 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017777.4(MKS1):c.978G>A (p.Glu326=) rs1246215697 0.00001
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=) rs566588440 0.00001
NM_017802.4(DNAAF5):c.1098C>T (p.His366=) rs142951273 0.00001
NM_017802.4(DNAAF5):c.1128A>C (p.Arg376=) rs753803162 0.00001
NM_017802.4(DNAAF5):c.1179C>T (p.His393=) rs537994269 0.00001
NM_017802.4(DNAAF5):c.1374C>T (p.Ser458=) rs150926878 0.00001
NM_017802.4(DNAAF5):c.1471-14C>G rs765928517 0.00001
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=) rs771906023 0.00001
NM_017802.4(DNAAF5):c.1743G>A (p.Ser581=) rs1232523161 0.00001
NM_017802.4(DNAAF5):c.1797A>T (p.Gly599=) rs376945935 0.00001
NM_017802.4(DNAAF5):c.2511G>A (p.Ser837=) rs143524894 0.00001
NM_017802.4(DNAAF5):c.324G>C (p.Ala108=) rs1241458505 0.00001
NM_017802.4(DNAAF5):c.421C>T (p.Leu141=) rs1583468117 0.00001
NM_017802.4(DNAAF5):c.474C>T (p.Ala158=) rs909306243 0.00001
NM_017802.4(DNAAF5):c.781-8A>G rs570735854 0.00001
NM_017802.4(DNAAF5):c.781-9C>T rs899682066 0.00001
NM_017802.4(DNAAF5):c.905+18C>T rs772079587 0.00001
NM_017950.4(CCDC40):c.1160-9G>A rs779328167 0.00001
NM_017950.4(CCDC40):c.1239C>T (p.Asp413=) rs751991087 0.00001
NM_017950.4(CCDC40):c.1240G>A (p.Asp414Asn) rs755164687 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.1413C>A (p.Thr471=) rs2037824553 0.00001
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=) rs200124291 0.00001
NM_017950.4(CCDC40):c.1512G>A (p.Val504=) rs1312465619 0.00001
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=) rs746661400 0.00001
NM_017950.4(CCDC40):c.168C>T (p.Val56=) rs770942016 0.00001
NM_017950.4(CCDC40):c.1884G>A (p.Thr628=) rs748572237 0.00001
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=) rs773715618 0.00001
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=) rs1598538668 0.00001
NM_017950.4(CCDC40):c.2310G>A (p.Ala770=) rs376945782 0.00001
NM_017950.4(CCDC40):c.2322G>A (p.Gln774=) rs1327058477 0.00001
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=) rs745925890 0.00001
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00001
NM_017950.4(CCDC40):c.29+8G>A rs772706089 0.00001
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=) rs201511980 0.00001
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=) rs1028095921 0.00001
NM_017950.4(CCDC40):c.315G>A (p.Gly105=) rs1398449246 0.00001
NM_017950.4(CCDC40):c.3180+7G>A rs764901506 0.00001
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=) rs758698381 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.624C>T (p.His208=) rs370581662 0.00001
NM_017950.4(CCDC40):c.627G>C (p.Gly209=) rs758242176 0.00001
NM_017950.4(CCDC40):c.708C>T (p.Pro236=) rs769809719 0.00001
NM_017950.4(CCDC40):c.780G>A (p.Glu260=) rs893159224 0.00001
NM_017950.4(CCDC40):c.804C>T (p.Asp268=) rs756325484 0.00001
NM_017950.4(CCDC40):c.939+11G>A rs754748154 0.00001
NM_018051.5(DYNC2I1):c.1059+14G>A rs112908949 0.00001
NM_018051.5(DYNC2I1):c.1113A>G (p.Thr371=) rs1353546702 0.00001
NM_018051.5(DYNC2I1):c.1194A>G (p.Glu398=) rs753716236 0.00001
NM_018051.5(DYNC2I1):c.1287G>A (p.Arg429=) rs375910832 0.00001
NM_018051.5(DYNC2I1):c.15+17G>A rs1006527590 0.00001
NM_018051.5(DYNC2I1):c.1703-13del rs558243779 0.00001
NM_018051.5(DYNC2I1):c.1983C>T (p.His661=) rs570560884 0.00001
NM_018051.5(DYNC2I1):c.2247G>A (p.Thr749=) rs779502233 0.00001
NM_018051.5(DYNC2I1):c.2257+15C>T rs993369163 0.00001
NM_018051.5(DYNC2I1):c.2349T>C (p.Leu783=) rs1159300009 0.00001
NM_018051.5(DYNC2I1):c.2388C>A (p.Ser796=) rs758510154 0.00001
NM_018051.5(DYNC2I1):c.2781C>T (p.Ala927=) rs748457877 0.00001
NM_018051.5(DYNC2I1):c.2823C>T (p.Ser941=) rs762674535 0.00001
NM_018051.5(DYNC2I1):c.609G>A (p.Lys203=) rs760059618 0.00001
NM_018051.5(DYNC2I1):c.678A>G (p.Lys226=) rs759760480 0.00001
NM_018051.5(DYNC2I1):c.880-17A>G rs753464984 0.00001
NM_018051.5(DYNC2I1):c.936-19G>A rs752292407 0.00001
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=) rs75389371 0.00001
NM_018076.5(ODAD2):c.1387-4G>T rs1590099355 0.00001
NM_018076.5(ODAD2):c.1416G>A (p.Ala472=) rs1420271169 0.00001
NM_018076.5(ODAD2):c.1515C>T (p.Thr505=) rs369884669 0.00001
NM_018076.5(ODAD2):c.1728G>A (p.Gly576=) rs1198624354 0.00001
NM_018076.5(ODAD2):c.192G>A (p.Ala64=) rs760968744 0.00001
NM_018076.5(ODAD2):c.2098-6G>A rs1226089165 0.00001
NM_018076.5(ODAD2):c.2166A>G (p.Leu722=) rs772901515 0.00001
NM_018076.5(ODAD2):c.225-15A>G rs1448669531 0.00001
NM_018076.5(ODAD2):c.2286G>A (p.Val762=) rs780112130 0.00001
NM_018076.5(ODAD2):c.2322G>T (p.Val774=) rs757039976 0.00001
NM_018076.5(ODAD2):c.2496-15T>G rs750965893 0.00001
NM_018076.5(ODAD2):c.2901A>C (p.Pro967=) rs750081562 0.00001
NM_018076.5(ODAD2):c.3114A>C (p.Thr1038=) rs1379144760 0.00001
NM_018076.5(ODAD2):c.382+14T>C rs1180938245 0.00001
NM_018076.5(ODAD2):c.383-9T>A rs1193786815 0.00001
NM_018076.5(ODAD2):c.672A>G (p.Glu224=) rs1299728001 0.00001
NM_018139.3(DNAAF2):c.1065G>A (p.Arg355=) rs1227325360 0.00001
NM_018139.3(DNAAF2):c.1116G>C (p.Arg372=) rs536029634 0.00001
NM_018139.3(DNAAF2):c.1122A>G (p.Gly374=) rs1406174147 0.00001
NM_018139.3(DNAAF2):c.1467T>C (p.Asp489=) rs201056459 0.00001
NM_018139.3(DNAAF2):c.1606C>T (p.Leu536=) rs1289754130 0.00001
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590 0.00001
NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=) rs1555327430 0.00001
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=) rs997727890 0.00001
NM_018139.3(DNAAF2):c.2205T>A (p.Val735=) rs750136915 0.00001
NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=) rs1229371492 0.00001
NM_018139.3(DNAAF2):c.471C>T (p.His157=) rs886050528 0.00001
NM_018139.3(DNAAF2):c.693G>A (p.Pro231=) rs764901505 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065 0.00001
NM_019892.6(INPP5E):c.1091C>T (p.Ser364Phe) rs536052523 0.00001
NM_019892.6(INPP5E):c.1107C>T (p.Gly369=) rs374718674 0.00001
NM_019892.6(INPP5E):c.1387+15G>A rs1464048559 0.00001
NM_019892.6(INPP5E):c.1387+17T>C rs931544953 0.00001
NM_019892.6(INPP5E):c.1392C>T (p.Asp464=) rs756021340 0.00001
NM_019892.6(INPP5E):c.1452C>T (p.Gly484=) rs371729050 0.00001
NM_019892.6(INPP5E):c.1489C>T (p.Leu497=) rs768106872 0.00001
NM_019892.6(INPP5E):c.150T>C (p.Leu50=) rs1588840560 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1549+13G>C rs759252360 0.00001
NM_019892.6(INPP5E):c.1549+17G>A rs776348228 0.00001
NM_019892.6(INPP5E):c.1551G>T (p.Gly517=) rs201644680 0.00001
NM_019892.6(INPP5E):c.1593C>T (p.Leu531=) rs1202662483 0.00001
NM_019892.6(INPP5E):c.1641C>T (p.Ser547=) rs376485593 0.00001
NM_019892.6(INPP5E):c.1665+17G>A rs373331546 0.00001
NM_019892.6(INPP5E):c.1666-5C>T rs369685858 0.00001
NM_019892.6(INPP5E):c.1671C>T (p.Arg557=) rs776792436 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.1746C>T (p.Ser582=) rs888901624 0.00001
NM_019892.6(INPP5E):c.1802+14C>T rs374679907 0.00001
NM_019892.6(INPP5E):c.1926C>T (p.Ser642=) rs201735585 0.00001
NM_019892.6(INPP5E):c.201A>G (p.Ala67=) rs754529136 0.00001
NM_019892.6(INPP5E):c.258G>T (p.Leu86=) rs760923526 0.00001
NM_019892.6(INPP5E):c.339G>A (p.Arg113=) rs532376589 0.00001
NM_019892.6(INPP5E):c.423C>G (p.Pro141=) rs1250573322 0.00001
NM_019892.6(INPP5E):c.549C>T (p.Pro183=) rs750486950 0.00001
NM_019892.6(INPP5E):c.560_561insGCTGCCCAT (p.Ser187delinsArgLeuProIle) rs769234632 0.00001
NM_019892.6(INPP5E):c.687G>C (p.Arg229=) rs958712451 0.00001
NM_019892.6(INPP5E):c.741C>T (p.Asp247=) rs1416206447 0.00001
NM_019892.6(INPP5E):c.747C>G (p.Ser249=) rs763877519 0.00001
NM_019892.6(INPP5E):c.813-7G>C rs774539451 0.00001
NM_019892.6(INPP5E):c.819C>T (p.Tyr273=) rs1444048193 0.00001
NM_019892.6(INPP5E):c.84C>T (p.Pro28=) rs1324639364 0.00001
NM_019892.6(INPP5E):c.861G>A (p.Ala287=) rs764869959 0.00001
NM_019892.6(INPP5E):c.894C>T (p.Asn298=) rs1315162454 0.00001
NM_019892.6(INPP5E):c.937-9T>G rs376994223 0.00001
NM_019892.6(INPP5E):c.957C>T (p.Asp319=) rs1032007993 0.00001
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087 0.00001
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 0.00001
NM_020779.4(WDR35):c.1009-18T>A rs113816809 0.00001
NM_020779.4(WDR35):c.135G>A (p.Thr45=) rs773319707 0.00001
NM_020779.4(WDR35):c.1374A>G (p.Thr458=) rs778066578 0.00001
NM_020779.4(WDR35):c.1446G>A (p.Val482=) rs569920075 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.2157T>C (p.Phe719=) rs755951192 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.24+9C>T rs754703472 0.00001
NM_020779.4(WDR35):c.2691T>C (p.His897=) rs1192258496 0.00001
NM_020779.4(WDR35):c.2739A>G (p.Leu913=) rs774699751 0.00001
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=) rs375805945 0.00001
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) rs748710979 0.00001
NM_020779.4(WDR35):c.3363-9G>A rs375053867 0.00001
NM_020779.4(WDR35):c.378C>T (p.Asp126=) rs770081985 0.00001
NM_020779.4(WDR35):c.666T>A (p.Pro222=) rs987346249 0.00001
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777 0.00001
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1151+15T>A rs1334712064 0.00001
NM_020800.3(IFT80):c.1151+8A>G rs759719560 0.00001
NM_020800.3(IFT80):c.1215A>G (p.Ser405=) rs761190913 0.00001
NM_020800.3(IFT80):c.1293A>T (p.Ile431=) rs1716374776 0.00001
NM_020800.3(IFT80):c.1315+8T>C rs765339125 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288 0.00001
NM_020800.3(IFT80):c.1554C>T (p.Cys518=) rs1163987189 0.00001
NM_020800.3(IFT80):c.1560C>T (p.Ile520=) rs572926587 0.00001
NM_020800.3(IFT80):c.156G>A (p.Lys52=) rs746919440 0.00001
NM_020800.3(IFT80):c.1664+15C>T rs752199749 0.00001
NM_020800.3(IFT80):c.1664+8T>C rs755731425 0.00001
NM_020800.3(IFT80):c.1665-15T>C rs749606176 0.00001
NM_020800.3(IFT80):c.1962T>C (p.Asn654=) rs757868715 0.00001
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436 0.00001
NM_020800.3(IFT80):c.260-9T>G rs1366678504 0.00001
NM_020800.3(IFT80):c.348T>C (p.Tyr116=) rs1223074347 0.00001
NM_020800.3(IFT80):c.37+20A>G rs1382715287 0.00001
NM_020800.3(IFT80):c.371-11T>C rs1339121948 0.00001
NM_020800.3(IFT80):c.371-7T>C rs773095033 0.00001
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_020800.3(IFT80):c.440-8T>A rs367575772 0.00001
NM_020800.3(IFT80):c.612A>G (p.Leu204=) rs1359553849 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474 0.00001
NM_020800.3(IFT80):c.837C>T (p.Ile279=) rs750697170 0.00001
NM_020800.3(IFT80):c.939G>A (p.Thr313=) rs763666588 0.00001
NM_020800.3(IFT80):c.958-7T>C rs766913544 0.00001
NM_020800.3(IFT80):c.991C>T (p.Leu331=) rs920853278 0.00001
NM_021147.5(CCNO):c.156G>A (p.Pro52=) rs1359521554 0.00001
NM_021147.5(CCNO):c.183C>T (p.Phe61=) rs760832879 0.00001
NM_021147.5(CCNO):c.30G>A (p.Ser10=) rs771067579 0.00001
NM_021147.5(CCNO):c.567+9G>A rs926256890 0.00001
NM_023036.6(DNAI2):c.1017G>A (p.Gln339=) rs191031963 0.00001
NM_023036.6(DNAI2):c.1071G>A (p.Val357=) rs2053119347 0.00001
NM_023036.6(DNAI2):c.1128C>T (p.Tyr376=) rs2053124377 0.00001
NM_023036.6(DNAI2):c.1212-10C>T rs372522923 0.00001
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=) rs537816710 0.00001
NM_023036.6(DNAI2):c.1368C>T (p.Phe456=) rs773370913 0.00001
NM_023036.6(DNAI2):c.1482C>T (p.Asn494=) rs1441537699 0.00001
NM_023036.6(DNAI2):c.1596G>A (p.Gln532=) rs372751337 0.00001
NM_023036.6(DNAI2):c.15C>T (p.Tyr5=) rs760845605 0.00001
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=) rs376541043 0.00001
NM_023036.6(DNAI2):c.1650G>A (p.Glu550=) rs760520336 0.00001
NM_023036.6(DNAI2):c.1758G>A (p.Glu586=) rs375973900 0.00001
NM_023036.6(DNAI2):c.252C>T (p.Asp84=) rs778114743 0.00001
NM_023036.6(DNAI2):c.270G>A (p.Leu90=) rs1002722809 0.00001
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=) rs764812763 0.00001
NM_023036.6(DNAI2):c.346-4C>T rs1385898478 0.00001
NM_023036.6(DNAI2):c.378C>T (p.Ala126=) rs1490406659 0.00001
NM_023036.6(DNAI2):c.45G>A (p.Gly15=) rs751121542 0.00001
NM_023036.6(DNAI2):c.467+10T>C rs377310209 0.00001
NM_023036.6(DNAI2):c.468-8C>T rs1598289254 0.00001
NM_023036.6(DNAI2):c.498A>G (p.Thr166=) rs1214535826 0.00001
NM_023036.6(DNAI2):c.516C>T (p.Pro172=) rs561911124 0.00001
NM_023036.6(DNAI2):c.57T>C (p.Asn19=) rs746568626 0.00001
NM_023036.6(DNAI2):c.664T>C (p.Leu222=) rs765870884 0.00001
NM_023036.6(DNAI2):c.678C>T (p.Pro226=) rs1049187015 0.00001
NM_023036.6(DNAI2):c.720G>A (p.Gln240=) rs755223435 0.00001
NM_023036.6(DNAI2):c.725-5A>G rs1262236006 0.00001
NM_023036.6(DNAI2):c.725-6C>A rs374155875 0.00001
NM_023036.6(DNAI2):c.741A>G (p.Arg247=) rs1464997999 0.00001
NM_023036.6(DNAI2):c.75C>G (p.Ala25=) rs749172812 0.00001
NM_023036.6(DNAI2):c.849T>C (p.Ala283=) rs531514142 0.00001
NM_023036.6(DNAI2):c.900C>T (p.Pro300=) rs752020598 0.00001
NM_023036.6(DNAI2):c.975C>T (p.Phe325=) rs1217838487 0.00001
NM_024649.5(BBS1):c.1006C>T (p.Leu336=) rs765494351 0.00001
NM_024649.5(BBS1):c.1111-12G>A rs774638549 0.00001
NM_024649.5(BBS1):c.1116A>G (p.Ala372=) rs1335578252 0.00001
NM_024649.5(BBS1):c.1143C>T (p.Tyr381=) rs1021331909 0.00001
NM_024649.5(BBS1):c.1181-14G>C rs747049051 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1197C>T (p.Ile399=) rs774005906 0.00001
NM_024649.5(BBS1):c.125-11T>C rs762092708 0.00001
NM_024649.5(BBS1):c.125-9G>A rs759208852 0.00001
NM_024649.5(BBS1):c.1266C>T (p.Ala422=) rs775519437 0.00001
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=) rs1417786271 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1339+16G>A rs1347358462 0.00001
NM_024649.5(BBS1):c.1341C>T (p.Ala447=) rs934613283 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166 0.00001
NM_024649.5(BBS1):c.1392C>T (p.Ala464=) rs1178616571 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1437C>T (p.Ser479=) rs1856697260 0.00001
NM_024649.5(BBS1):c.1440G>A (p.Thr480=) rs751466006 0.00001
NM_024649.5(BBS1):c.1467C>T (p.His489=) rs749008475 0.00001
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) rs772427832 0.00001
NM_024649.5(BBS1):c.1554G>T (p.Leu518=) rs760568652 0.00001
NM_024649.5(BBS1):c.1572C>T (p.Asn524=) rs757866253 0.00001
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) rs373397428 0.00001
NM_024649.5(BBS1):c.1615T>C (p.Leu539=) rs1727051374 0.00001
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) rs780444865 0.00001
NM_024649.5(BBS1):c.1671C>T (p.Asn557=) rs1179878578 0.00001
NM_024649.5(BBS1):c.1696-9C>T rs1363840770 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.18A>G (p.Ser6=) rs758441011 0.00001
NM_024649.5(BBS1):c.339T>C (p.Tyr113=) rs754412005 0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=) rs1336755113 0.00001
NM_024649.5(BBS1):c.381C>T (p.Pro127=) rs1317121045 0.00001
NM_024649.5(BBS1):c.384A>G (p.Gln128=) rs149442804 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.433-20C>G rs186822905 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00001
NM_024649.5(BBS1):c.48-4C>G rs763314002 0.00001
NM_024649.5(BBS1):c.483G>A (p.Glu161=) rs745832920 0.00001
NM_024649.5(BBS1):c.591+8C>T rs1043360776 0.00001
NM_024649.5(BBS1):c.592-18C>A rs1382520569 0.00001
NM_024649.5(BBS1):c.592-7T>C rs1377616978 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.699C>T (p.Pro233=) rs777250313 0.00001
NM_024649.5(BBS1):c.70T>C (p.Leu24=) rs747891096 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
NM_024649.5(BBS1):c.771T>C (p.Phe257=) rs367686869 0.00001
NM_024649.5(BBS1):c.792C>T (p.Ala264=) rs770901594 0.00001
NM_024649.5(BBS1):c.795G>A (p.Ala265=) rs550508776 0.00001
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931 0.00001
NM_024649.5(BBS1):c.849G>A (p.Lys283=) rs1208056864 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024649.5(BBS1):c.931C>T (p.Leu311=) rs1256532742 0.00001
NM_024649.5(BBS1):c.948C>T (p.His316=) rs777721856 0.00001
NM_024649.5(BBS1):c.951+10C>T rs745672331 0.00001
NM_024649.5(BBS1):c.952-19G>A rs200350565 0.00001
NM_024649.5(BBS1):c.952-20C>T rs1189838889 0.00001
NM_024685.4(BBS10):c.1134C>T (p.Ser378=) rs764371181 0.00001
NM_024685.4(BBS10):c.1197T>C (p.Leu399=) rs974452621 0.00001
NM_024685.4(BBS10):c.1218C>G (p.Leu406=) rs758194221 0.00001
NM_024685.4(BBS10):c.1401G>A (p.Arg467=) rs1951760279 0.00001
NM_024685.4(BBS10):c.1416A>G (p.Thr472=) rs1345667368 0.00001
NM_024685.4(BBS10):c.144C>T (p.Ser48=) rs1354665984 0.00001
NM_024685.4(BBS10):c.1477T>C (p.Leu493=) rs543722869 0.00001
NM_024685.4(BBS10):c.1506A>G (p.Thr502=) rs201022680 0.00001
NM_024685.4(BBS10):c.1593C>T (p.Asn531=) rs780123311 0.00001
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224 0.00001
NM_024685.4(BBS10):c.1866T>C (p.His622=) rs1167846126 0.00001
NM_024685.4(BBS10):c.1959C>T (p.Ser653=) rs764088306 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1978A>C (p.Arg660=) rs145838463 0.00001
NM_024685.4(BBS10):c.198-4A>G rs1292242567 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.2070A>G (p.Ser690=) rs750972045 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.2166A>G (p.Glu722=) rs747553162 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.237A>G (p.Thr79=) rs774437650 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.450T>C (p.Ser150=) rs573346325 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.630A>T (p.Val210=) rs759791957 0.00001
NM_024685.4(BBS10):c.661T>C (p.Leu221=) rs768544411 0.00001
NM_024685.4(BBS10):c.681C>T (p.Gly227=) rs886049851 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.753A>G (p.Ala251=) rs766065990 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.840A>G (p.Glu280=) rs751973161 0.00001
NM_024685.4(BBS10):c.942A>G (p.Lys314=) rs748249273 0.00001
NM_024685.4(BBS10):c.996G>A (p.Glu332=) rs756848031 0.00001
NM_024753.5(TTC21B):c.1014A>G (p.Gly338=) rs1213663988 0.00001
NM_024753.5(TTC21B):c.1087+9A>G rs377071324 0.00001
NM_024753.5(TTC21B):c.1089A>G (p.Gly363=) rs760376956 0.00001
NM_024753.5(TTC21B):c.1122A>G (p.Leu374=) rs1686814599 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.1428T>C (p.Arg476=) rs376312170 0.00001
NM_024753.5(TTC21B):c.1441C>T (p.Leu481=) rs773128226 0.00001
NM_024753.5(TTC21B):c.1516+20del rs1559062651 0.00001
NM_024753.5(TTC21B):c.1542C>T (p.Asn514=) rs1422092714 0.00001
NM_024753.5(TTC21B):c.1548G>A (p.Gln516=) rs757424964 0.00001
NM_024753.5(TTC21B):c.1710T>G (p.Ala570=) rs766982980 0.00001
NM_024753.5(TTC21B):c.1900-20T>A rs1216094746 0.00001
NM_024753.5(TTC21B):c.2046C>T (p.Ala682=) rs766532748 0.00001
NM_024753.5(TTC21B):c.2121A>G (p.Leu707=) rs778283781 0.00001
NM_024753.5(TTC21B):c.2139-13G>A rs1686040312 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.2569-6T>C rs761010837 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2754T>C (p.Asn918=) rs139668120 0.00001
NM_024753.5(TTC21B):c.2816G>A (p.Arg939Gln) rs751382210 0.00001
NM_024753.5(TTC21B):c.2868+18C>G rs189515413 0.00001
NM_024753.5(TTC21B):c.2967A>G (p.Leu989=) rs749030495 0.00001
NM_024753.5(TTC21B):c.3084T>C (p.Cys1028=) rs750764688 0.00001
NM_024753.5(TTC21B):c.3114A>G (p.Glu1038=) rs1436732135 0.00001
NM_024753.5(TTC21B):c.3135T>C (p.His1045=) rs370063297 0.00001
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=) rs762837601 0.00001
NM_024753.5(TTC21B):c.3273T>G (p.Thr1091=) rs1295298917 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3513A>G (p.Lys1171=) rs370432759 0.00001
NM_024753.5(TTC21B):c.3685-9T>C rs777313475 0.00001
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=) rs376746146 0.00001
NM_024753.5(TTC21B):c.3714A>T (p.Gly1238=) rs760683105 0.00001
NM_024753.5(TTC21B):c.3780T>C (p.Tyr1260=) rs769230631 0.00001
NM_024753.5(TTC21B):c.3873+7A>T rs745875005 0.00001
NM_024753.5(TTC21B):c.3874-13A>G rs910204066 0.00001
NM_024753.5(TTC21B):c.3936G>A (p.Ala1312=) rs201470854 0.00001
NM_024753.5(TTC21B):c.435C>T (p.His145=) rs775319794 0.00001
NM_024753.5(TTC21B):c.576G>A (p.Gln192=) rs762917784 0.00001
NM_024753.5(TTC21B):c.592C>T (p.Leu198=) rs1320998801 0.00001
NM_024753.5(TTC21B):c.681T>C (p.Asp227=) rs376038966 0.00001
NM_024753.5(TTC21B):c.705A>G (p.Ala235=) rs1435067397 0.00001
NM_024753.5(TTC21B):c.715C>T (p.Leu239=) rs761170872 0.00001
NM_024753.5(TTC21B):c.796-20del rs753564394 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_024753.5(TTC21B):c.895-7T>C rs749142305 0.00001
NM_024753.5(TTC21B):c.912T>G (p.Leu304=) rs780519055 0.00001
NM_024809.5(TCTN2):c.1099+10G>A rs751385319 0.00001
NM_024809.5(TCTN2):c.1235-20T>A rs773929370 0.00001
NM_024809.5(TCTN2):c.1393+19T>C rs1434022811 0.00001
NM_024809.5(TCTN2):c.1476C>T (p.Val492=) rs755762894 0.00001
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=) rs915966685 0.00001
NM_024809.5(TCTN2):c.1505+12A>G rs1179038667 0.00001
NM_024809.5(TCTN2):c.1612+13C>T rs372353543 0.00001
NM_024809.5(TCTN2):c.1613-16C>T rs777663928 0.00001
NM_024809.5(TCTN2):c.1689C>T (p.His563=) rs763961375 0.00001
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=) rs747771800 0.00001
NM_024809.5(TCTN2):c.191-16G>T rs756369722 0.00001
NM_024809.5(TCTN2):c.191-5T>G rs755362026 0.00001
NM_024809.5(TCTN2):c.207G>A (p.Pro69=) rs775096865 0.00001
NM_024809.5(TCTN2):c.255G>C (p.Val85=) rs1244229343 0.00001
NM_024809.5(TCTN2):c.504T>C (p.Leu168=) rs1359077600 0.00001
NM_024809.5(TCTN2):c.723T>C (p.Leu241=) rs373992170 0.00001
NM_024809.5(TCTN2):c.82+7A>C rs767155532 0.00001
NM_024809.5(TCTN2):c.83-20C>T rs1311027569 0.00001
NM_024809.5(TCTN2):c.83-6G>A rs756232884 0.00001
NM_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.102+9T>C rs757243626 0.00001
NM_025114.4(CEP290):c.103-17C>T rs976920583 0.00001
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157 0.00001
NM_025114.4(CEP290):c.1066-17T>C rs761615192 0.00001
NM_025114.4(CEP290):c.1066-4A>G rs2039668462 0.00001
NM_025114.4(CEP290):c.1107A>G (p.Glu369=) rs1202218217 0.00001
NM_025114.4(CEP290):c.1190-19T>C rs892306905 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1236G>A (p.Thr412=) rs534187846 0.00001
NM_025114.4(CEP290):c.1359+7A>T rs2039362896 0.00001
NM_025114.4(CEP290):c.144G>A (p.Val48=) rs752484237 0.00001
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750 0.00001
NM_025114.4(CEP290):c.1464A>G (p.Lys488=) rs747644093 0.00001
NM_025114.4(CEP290):c.1512A>G (p.Arg504=) rs1592639705 0.00001
NM_025114.4(CEP290):c.1523-11T>G rs747839947 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1523-7A>G rs1413722193 0.00001
NM_025114.4(CEP290):c.1596A>G (p.Arg532=) rs770310236 0.00001
NM_025114.4(CEP290):c.1623+13G>A rs746496743 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.168G>A (p.Gln56=) rs1382787422 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 0.00001
NM_025114.4(CEP290):c.1712-6A>G rs1452155200 0.00001
NM_025114.4(CEP290):c.1712-8A>G rs757895570 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1725G>A (p.Glu575=) rs1278197433 0.00001
NM_025114.4(CEP290):c.1779A>G (p.Lys593=) rs374292851 0.00001
NM_025114.4(CEP290):c.180+9G>A rs2040617810 0.00001
NM_025114.4(CEP290):c.181-9A>G rs745494615 0.00001
NM_025114.4(CEP290):c.1824+16T>G rs769650506 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.1992T>C (p.Asp664=) rs1430141121 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00001
NM_025114.4(CEP290):c.2052+20T>C rs142162258 0.00001
NM_025114.4(CEP290):c.2052+7T>A rs1341344972 0.00001
NM_025114.4(CEP290):c.2053-5G>T rs764694042 0.00001
NM_025114.4(CEP290):c.2073A>G (p.Ala691=) rs766690438 0.00001
NM_025114.4(CEP290):c.2091G>A (p.Ala697=) rs1399023990 0.00001
NM_025114.4(CEP290):c.2127C>T (p.Thr709=) rs756894456 0.00001
NM_025114.4(CEP290):c.2205A>G (p.Lys735=) rs1398701243 0.00001
NM_025114.4(CEP290):c.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2277T>C (p.Val759=) rs1253940761 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2367+8A>C rs1373970415 0.00001
NM_025114.4(CEP290):c.2368-10C>T rs1483385915 0.00001
NM_025114.4(CEP290):c.237A>G (p.Glu79=) rs1206035309 0.00001
NM_025114.4(CEP290):c.2394A>G (p.Leu798=) rs542236778 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2483+3_2483+7dup rs1461768571 0.00001
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2587-6G>A rs2038323989 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2688T>C (p.Leu896=) rs2038314751 0.00001
NM_025114.4(CEP290):c.2712A>G (p.Val904=) rs1371763035 0.00001
NM_025114.4(CEP290):c.2721G>A (p.Glu907=) rs1238362600 0.00001
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.2826C>G (p.Ala942=) rs1456663660 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2880T>C (p.Ser960=) rs778138631 0.00001
NM_025114.4(CEP290):c.291A>G (p.Glu97=) rs757402765 0.00001
NM_025114.4(CEP290):c.2929A>C (p.Arg977=) rs765840717 0.00001
NM_025114.4(CEP290):c.2940G>A (p.Leu980=) rs750343200 0.00001
NM_025114.4(CEP290):c.297+16T>C rs547662093 0.00001
NM_025114.4(CEP290):c.298-11A>G rs748232723 0.00001
NM_025114.4(CEP290):c.2991+11G>A rs1214417467 0.00001
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=) rs748493455 0.00001
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663 0.00001
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=) rs1280566129 0.00001
NM_025114.4(CEP290):c.303T>G (p.Ala101=) rs2040376122 0.00001
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=) rs948320708 0.00001
NM_025114.4(CEP290):c.306G>A (p.Gln102=) rs755418283 0.00001
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=) rs2037242478 0.00001
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=) rs2037240316 0.00001
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=) rs552585004 0.00001
NM_025114.4(CEP290):c.3225T>C (p.His1075=) rs1238044392 0.00001
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=) rs376027433 0.00001
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=) rs886042467 0.00001
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=) rs775973036 0.00001
NM_025114.4(CEP290):c.3310-10A>G rs1178248633 0.00001
NM_025114.4(CEP290):c.3310-20T>C rs1446567922 0.00001
NM_025114.4(CEP290):c.3342G>A (p.Val1114=) rs754811220 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3461+16C>T rs1191430138 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=) rs1241950761 0.00001
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.3663G>A (p.Leu1221=) rs1268722686 0.00001
NM_025114.4(CEP290):c.366A>G (p.Lys122=) rs774352665 0.00001
NM_025114.4(CEP290):c.3687G>A (p.Gln1229=) rs1345968216 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.393G>A (p.Leu131=) rs780621500 0.00001
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=) rs2036812497 0.00001
NM_025114.4(CEP290):c.4083A>G (p.Leu1361=) rs528988184 0.00001
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=) rs1217345596 0.00001
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=) rs775279240 0.00001
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=) rs1457015763 0.00001
NM_025114.4(CEP290):c.4303-15A>G rs767235408 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=) rs2036556391 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=) rs772640114 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=) rs1435937461 0.00001
NM_025114.4(CEP290):c.4438-18A>G rs761675817 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=) rs763991371 0.00001
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=) rs747484394 0.00001
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=) rs1409082857 0.00001
NM_025114.4(CEP290):c.4812+9C>T rs747569970 0.00001
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=) rs1273344761 0.00001
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=) rs1273165449 0.00001
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=) rs1179886652 0.00001
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=) rs752956198 0.00001
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=) rs1330745435 0.00001
NM_025114.4(CEP290):c.4941A>G (p.Val1647=) rs776334632 0.00001
NM_025114.4(CEP290):c.496-4G>A rs1263086196 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.5012+7C>T rs1459836393 0.00001
NM_025114.4(CEP290):c.5013-17A>G rs2036114425 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.5028T>C (p.His1676=) rs775086368 0.00001
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=) rs768807929 0.00001
NM_025114.4(CEP290):c.517-17T>C rs760912729 0.00001
NM_025114.4(CEP290):c.5181A>T (p.Val1727=) rs1002651698 0.00001
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700 0.00001
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=) rs749975524 0.00001
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=) rs1367796637 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=) rs1161234355 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=) rs777528087 0.00001
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=) rs931780353 0.00001
NM_025114.4(CEP290):c.5586+9A>G rs746293904 0.00001
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=) rs1391226067 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 0.00001
NM_025114.4(CEP290):c.5688C>T (p.Asp1896=) rs1166115017 0.00001
NM_025114.4(CEP290):c.5710-14C>T rs766723760 0.00001
NM_025114.4(CEP290):c.5710-6T>C rs772896946 0.00001
NM_025114.4(CEP290):c.5751G>A (p.Lys1917=) rs1384070051 0.00001
NM_025114.4(CEP290):c.5808C>T (p.Val1936=) rs905571067 0.00001
NM_025114.4(CEP290):c.583T>C (p.Leu195=) rs1429521689 0.00001
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=) rs727503852 0.00001
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.597G>A (p.Gly199=) rs757015598 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=) rs779262951 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6135+8T>A rs759481991 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=) rs1327169453 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=) rs1408298921 0.00001
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=) rs761864807 0.00001
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=) rs1303402400 0.00001
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=) rs2034343634 0.00001
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=) rs1282398701 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=) rs1048414150 0.00001
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883 0.00001
NM_025114.4(CEP290):c.669+20A>G rs373119842 0.00001
NM_025114.4(CEP290):c.669+8G>T rs768408897 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6819-10A>G rs150241790 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=) rs749716804 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=) rs759638203 0.00001
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=) rs779550219 0.00001
NM_025114.4(CEP290):c.726T>C (p.Asn242=) rs949161264 0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003 0.00001
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) rs1555193066 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.78T>C (p.Asp26=) rs2040639110 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.942+20A>G rs1409061084 0.00001
NM_025114.4(CEP290):c.978G>A (p.Glu326=) rs935755196 0.00001
NM_025132.4(WDR19):c.1086C>T (p.Ala362=) rs747988894 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.1377T>C (p.Asp459=) rs1376377023 0.00001
NM_025132.4(WDR19):c.141A>G (p.Lys47=) rs749387746 0.00001
NM_025132.4(WDR19):c.1488C>T (p.Val496=) rs868438531 0.00001
NM_025132.4(WDR19):c.1542T>C (p.Pro514=) rs1162371392 0.00001
NM_025132.4(WDR19):c.164+12A>G rs776617179 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1941C>T (p.Asp647=) rs753924776 0.00001
NM_025132.4(WDR19):c.2007C>T (p.Cys669=) rs1220683360 0.00001
NM_025132.4(WDR19):c.2142+16T>C rs1264244974 0.00001
NM_025132.4(WDR19):c.2220C>T (p.Tyr740=) rs762882447 0.00001
NM_025132.4(WDR19):c.2325T>G (p.Pro775=) rs753638155 0.00001
NM_025132.4(WDR19):c.234C>T (p.Cys78=) rs1232301082 0.00001
NM_025132.4(WDR19):c.2364-13del rs1293062183 0.00001
NM_025132.4(WDR19):c.2364-16C>G rs780933216 0.00001
NM_025132.4(WDR19):c.2364-18C>G rs1357135173 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2730-10T>A rs767979793 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.2877-17A>G rs372257071 0.00001
NM_025132.4(WDR19):c.290+20T>G rs1322796832 0.00001
NM_025132.4(WDR19):c.3115-10C>T rs775640673 0.00001
NM_025132.4(WDR19):c.3184-14C>T rs761439271 0.00001
NM_025132.4(WDR19):c.3354T>G (p.Ser1118=) rs763549620 0.00001
NM_025132.4(WDR19):c.3358+8C>T rs368200969 0.00001
NM_025132.4(WDR19):c.3399T>C (p.Tyr1133=) rs1456107767 0.00001
NM_025132.4(WDR19):c.3607A>C (p.Arg1203=) rs1394483779 0.00001
NM_025132.4(WDR19):c.3630T>C (p.Ala1210=) rs1314442616 0.00001
NM_025132.4(WDR19):c.3750G>A (p.Thr1250=) rs761318983 0.00001
NM_025132.4(WDR19):c.3801T>C (p.Cys1267=) rs769702825 0.00001
NM_025132.4(WDR19):c.3900A>G (p.Leu1300=) rs753236230 0.00001
NM_025132.4(WDR19):c.3936C>T (p.Ser1312=) rs200255703 0.00001
NM_025132.4(WDR19):c.3966C>T (p.Asn1322=) rs767906377 0.00001
NM_025132.4(WDR19):c.426C>T (p.Ile142=) rs377419343 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.438T>C (p.Cys146=) rs183950055 0.00001
NM_025132.4(WDR19):c.522+9G>A rs759274849 0.00001
NM_025132.4(WDR19):c.604-10T>C rs766591103 0.00001
NM_025132.4(WDR19):c.609T>C (p.Ser203=) rs755179058 0.00001
NM_025132.4(WDR19):c.783T>C (p.Thr261=) rs748548123 0.00001
NM_025132.4(WDR19):c.78A>G (p.Gly26=) rs1428236221 0.00001
NM_025132.4(WDR19):c.81C>T (p.Asn27=) rs1351039516 0.00001
NM_031427.4(DNAL1):c.265-17A>T rs1308650887 0.00001
NM_031427.4(DNAL1):c.348A>G (p.Lys116=) rs186927207 0.00001
NM_031427.4(DNAL1):c.498A>T (p.Ala166=) rs770681880 0.00001
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1011G>A (p.Leu337=) rs767239768 0.00001
NM_031885.5(BBS2):c.1020G>A (p.Glu340=) rs987125306 0.00001
NM_031885.5(BBS2):c.1080+7G>A rs1161249297 0.00001
NM_031885.5(BBS2):c.1092C>A (p.Ala364=) rs1394766615 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.1155C>G (p.Thr385=) rs749121755 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1209C>T (p.Arg403=) rs747086491 0.00001
NM_031885.5(BBS2):c.1225+16C>T rs774382271 0.00001
NM_031885.5(BBS2):c.1225+19C>T rs564848200 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1233C>T (p.Ile411=) rs1179390065 0.00001
NM_031885.5(BBS2):c.1257A>G (p.Ala419=) rs747607168 0.00001
NM_031885.5(BBS2):c.1314C>T (p.Ser438=) rs1204179948 0.00001
NM_031885.5(BBS2):c.1323C>T (p.Ile441=) rs759783261 0.00001
NM_031885.5(BBS2):c.1326C>T (p.Cys442=) rs1478971000 0.00001
NM_031885.5(BBS2):c.1329C>T (p.Ile443=) rs1244466598 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.1542C>T (p.Leu514=) rs374156464 0.00001
NM_031885.5(BBS2):c.1554T>C (p.Phe518=) rs1258350117 0.00001
NM_031885.5(BBS2):c.1608A>G (p.Thr536=) rs778892001 0.00001
NM_031885.5(BBS2):c.1653T>C (p.Ser551=) rs1164036055 0.00001
NM_031885.5(BBS2):c.1659+7T>C rs1964172250 0.00001
NM_031885.5(BBS2):c.1660-10C>T rs1343645233 0.00001
NM_031885.5(BBS2):c.1777T>C (p.Leu593=) rs767778599 0.00001
NM_031885.5(BBS2):c.1798-8G>T rs370273510 0.00001
NM_031885.5(BBS2):c.1911-10A>T rs747869137 0.00001
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=) rs1044072013 0.00001
NM_031885.5(BBS2):c.1989C>T (p.Asn663=) rs373278876 0.00001
NM_031885.5(BBS2):c.2059+7C>G rs113740983 0.00001
NM_031885.5(BBS2):c.2060-5T>C rs374531370 0.00001
NM_031885.5(BBS2):c.273C>A (p.Ala91=) rs1181643265 0.00001
NM_031885.5(BBS2):c.30G>A (p.Leu10=) rs1258834563 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.42C>T (p.Ile14=) rs764339260 0.00001
NM_031885.5(BBS2):c.483C>T (p.Asp161=) rs375074141 0.00001
NM_031885.5(BBS2):c.534+13G>A rs748319105 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.535-7C>T rs761135398 0.00001
NM_031885.5(BBS2):c.558T>C (p.Phe186=) rs768109068 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.612+10T>C rs113091063 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.66G>T (p.Gly22=) rs1348539618 0.00001
NM_031885.5(BBS2):c.717+16C>T rs752825833 0.00001
NM_031885.5(BBS2):c.720G>A (p.Ser240=) rs758715963 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.873T>A (p.Gly291=) rs1298944249 0.00001
NM_031885.5(BBS2):c.888T>C (p.Asp296=) rs762618442 0.00001
NM_031885.5(BBS2):c.945G>A (p.Arg315=) rs2288057 0.00001
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00001
NM_031924.8(RSPH3):c.-208C>T rs759557879 0.00001
NM_031924.8(RSPH3):c.-218C>T rs565912272 0.00001
NM_031924.8(RSPH3):c.1149T>C (p.Tyr383=) rs1311068606 0.00001
NM_031924.8(RSPH3):c.285G>A (p.Glu95=) rs766919591 0.00001
NM_031924.8(RSPH3):c.415T>C (p.Leu139=) rs1778117225 0.00001
NM_031924.8(RSPH3):c.558G>A (p.Gln186=) rs776777631 0.00001
NM_031924.8(RSPH3):c.66C>T (p.Pro22=) rs1432868352 0.00001
NM_031924.8(RSPH3):c.777A>G (p.Ala259=) rs748472929 0.00001
NM_033028.5(BBS4):c.*522A>G rs531501103 0.00001
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1107-19G>C rs763043698 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1182A>G (p.Gln394=) rs771579669 0.00001
NM_033028.5(BBS4):c.1249-12T>C rs759275107 0.00001
NM_033028.5(BBS4):c.1450+10T>C rs886042845 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.24+16C>G rs377301298 0.00001
NM_033028.5(BBS4):c.24+7G>A rs373861071 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_033028.5(BBS4):c.402T>C (p.Asp134=) rs1567416229 0.00001
NM_033028.5(BBS4):c.405+10G>C rs1216711857 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_033028.5(BBS4):c.420C>T (p.Asn140=) rs763224665 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.535T>C (p.Leu179=) rs539768891 0.00001
NM_033028.5(BBS4):c.546A>G (p.Gly182=) rs147218625 0.00001
NM_033028.5(BBS4):c.588-9A>G rs553655236 0.00001
NM_033028.5(BBS4):c.624A>G (p.Leu208=) rs1318415066 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.642+11del rs747510870 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_033028.5(BBS4):c.708C>T (p.Tyr236=) rs770211437 0.00001
NM_033028.5(BBS4):c.712-8G>A rs2065815184 0.00001
NM_033028.5(BBS4):c.714C>T (p.Ala238=) rs756435227 0.00001
NM_033028.5(BBS4):c.741G>A (p.Gln247=) rs368525772 0.00001
NM_033028.5(BBS4):c.777C>T (p.Tyr259=) rs200469783 0.00001
NM_033028.5(BBS4):c.825C>T (p.Asn275=) rs1439728758 0.00001
NM_033028.5(BBS4):c.864+9C>T rs775416661 0.00001
NM_033028.5(BBS4):c.987G>A (p.Ala329=) rs1296549307 0.00001
NM_033124.5(CCDC65):c.1027-12C>T rs372394560 0.00001
NM_033124.5(CCDC65):c.1027-15T>C rs370694032 0.00001
NM_033124.5(CCDC65):c.1059T>C (p.Cys353=) rs756676635 0.00001
NM_033124.5(CCDC65):c.327C>T (p.Ala109=) rs1280553882 0.00001
NM_033124.5(CCDC65):c.597T>C (p.Asp199=) rs367593202 0.00001
NM_033124.5(CCDC65):c.610-13G>A rs1452389168 0.00001
NM_033124.5(CCDC65):c.987T>C (p.Ser329=) rs775065312 0.00001
NM_052844.4(DYNC2I2):c.1014G>A (p.Thr338=) rs775718174 0.00001
NM_052844.4(DYNC2I2):c.1038C>T (p.Asp346=) rs1203198115 0.00001
NM_052844.4(DYNC2I2):c.1146C>T (p.Ala382=) rs762641265 0.00001
NM_052844.4(DYNC2I2):c.1332C>T (p.Ser444=) rs376351607 0.00001
NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=) rs769045630 0.00001
NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=) rs760332947 0.00001
NM_052844.4(DYNC2I2):c.1506T>C (p.Asp502=) rs1054532891 0.00001
NM_052844.4(DYNC2I2):c.1569A>G (p.Glu523=) rs777478835 0.00001
NM_052844.4(DYNC2I2):c.405C>T (p.Phe135=) rs772333040 0.00001
NM_052844.4(DYNC2I2):c.498C>T (p.Ser166=) rs1464019566 0.00001
NM_052844.4(DYNC2I2):c.540C>T (p.Tyr180=) rs542055273 0.00001
NM_052844.4(DYNC2I2):c.60G>A (p.Ala20=) rs1308508874 0.00001
NM_052844.4(DYNC2I2):c.633G>A (p.Ser211=) rs376954350 0.00001
NM_052844.4(DYNC2I2):c.693C>T (p.Ser231=) rs1369315948 0.00001
NM_052844.4(DYNC2I2):c.699C>T (p.Val233=) rs1354880824 0.00001
NM_052844.4(DYNC2I2):c.876C>T (p.Asp292=) rs558962462 0.00001
NM_052844.4(DYNC2I2):c.981+15G>A rs757554076 0.00001
NM_080860.4(RSPH1):c.144C>T (p.Tyr48=) rs534988351 0.00001
NM_080860.4(RSPH1):c.192T>G (p.Gly64=) rs375454508 0.00001
NM_080860.4(RSPH1):c.204C>T (p.Ile68=) rs755219864 0.00001
NM_080860.4(RSPH1):c.531T>C (p.Asp177=) rs755284624 0.00001
NM_080860.4(RSPH1):c.60T>C (p.Tyr20=) rs762144549 0.00001
NM_080860.4(RSPH1):c.636C>T (p.Thr212=) rs765328542 0.00001
NM_080860.4(RSPH1):c.741C>T (p.Pro247=) rs142166675 0.00001
NM_080860.4(RSPH1):c.877+13C>T rs747107857 0.00001
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.1143C>T (p.Thr381=) rs1427115411 0.00001
NM_144596.4(TTC8):c.1158C>T (p.Ala386=) rs575960949 0.00001
NM_144596.4(TTC8):c.1257C>T (p.Cys419=) rs1304915093 0.00001
NM_144596.4(TTC8):c.1290C>T (p.His430=) rs370238882 0.00001
NM_144596.4(TTC8):c.1293C>T (p.Ala431=) rs757305114 0.00001
NM_144596.4(TTC8):c.1335C>T (p.Gly445=) rs770430375 0.00001
NM_144596.4(TTC8):c.1347+17C>T rs371494539 0.00001
NM_144596.4(TTC8):c.1353G>A (p.Arg451=) rs2094951123 0.00001
NM_144596.4(TTC8):c.1432-20T>C rs767425214 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.22C>T (p.Leu8=) rs139659023 0.00001
NM_144596.4(TTC8):c.266-5C>G rs982758929 0.00001
NM_144596.4(TTC8):c.329+19T>C rs1052249656 0.00001
NM_144596.4(TTC8):c.330-18A>C rs750012179 0.00001
NM_144596.4(TTC8):c.399C>A (p.Gly133=) rs766975286 0.00001
NM_144596.4(TTC8):c.462C>T (p.Ser154=) rs766005336 0.00001
NM_144596.4(TTC8):c.465C>T (p.Ser155=) rs1253468754 0.00001
NM_144596.4(TTC8):c.534T>C (p.Ser178=) rs200318980 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144596.4(TTC8):c.84G>A (p.Thr28=) rs1390636663 0.00001
NM_144596.4(TTC8):c.885C>T (p.Leu295=) rs1052480994 0.00001
NM_144596.4(TTC8):c.987C>T (p.Ile329=) rs1024139303 0.00001
NM_145038.5(DRC1):c.1919+10G>A rs775449578 0.00001
NM_145038.5(DRC1):c.2058G>A (p.Lys686=) rs1386352972 0.00001
NM_145038.5(DRC1):c.2064-8G>A rs1012672985 0.00001
NM_145038.5(DRC1):c.2069T>C (p.Val690Ala) rs199858918 0.00001
NM_145038.5(DRC1):c.356+8C>T rs749365742 0.00001
NM_145038.5(DRC1):c.501C>T (p.Leu167=) rs778849420 0.00001
NM_145038.5(DRC1):c.684A>G (p.Ala228=) rs751246954 0.00001
NM_145038.5(DRC1):c.843C>T (p.Cys281=) rs371207623 0.00001
NM_145038.5(DRC1):c.972G>A (p.Lys324=) rs1663689812 0.00001
NM_145045.5(ODAD3):c.1204C>T (p.Leu402=) rs778844818 0.00001
NM_145045.5(ODAD3):c.1524G>A (p.Leu508=) rs1969139640 0.00001
NM_145045.5(ODAD3):c.195C>T (p.Pro65=) rs773007379 0.00001
NM_145045.5(ODAD3):c.390A>G (p.Ala130=) rs1410957934 0.00001
NM_145045.5(ODAD3):c.459A>G (p.Leu153=) rs771123707 0.00001
NM_145045.5(ODAD3):c.579G>A (p.Ala193=) rs372598374 0.00001
NM_145045.5(ODAD3):c.66G>A (p.Thr22=) rs371954151 0.00001
NM_145045.5(ODAD3):c.715-7G>A rs756226175 0.00001
NM_145045.5(ODAD3):c.840+7C>T rs376424048 0.00001
NM_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 0.00001
NM_147127.5(EVC2):c.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 0.00001
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 0.00001
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 0.00001
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 0.00001
NM_147127.5(EVC2):c.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938 0.00001
NM_152384.3(BBS5):c.276T>C (p.Thr92=) rs775970045 0.00001
NM_152384.3(BBS5):c.386+16A>G rs1454698956 0.00001
NM_152384.3(BBS5):c.523-11G>A rs756035013 0.00001
NM_152384.3(BBS5):c.633T>C (p.Ile211=) rs1245371466 0.00001
NM_152384.3(BBS5):c.675T>G (p.Ser225=) rs1299275211 0.00001
NM_152384.3(BBS5):c.681+9T>C rs751819870 0.00001
NM_152384.3(BBS5):c.888G>A (p.Thr296=) rs777702222 0.00001
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486 0.00001
NM_152618.3(BBS12):c.1074C>T (p.Leu358=) rs1162225747 0.00001
NM_152618.3(BBS12):c.1089C>A (p.Leu363=) rs745647149 0.00001
NM_152618.3(BBS12):c.1107C>T (p.His369=) rs375244084 0.00001
NM_152618.3(BBS12):c.1299A>G (p.Val433=) rs764582469 0.00001
NM_152618.3(BBS12):c.1302C>T (p.Ile434=) rs773214415 0.00001
NM_152618.3(BBS12):c.1425A>G (p.Arg475=) rs757311921 0.00001
NM_152618.3(BBS12):c.1464C>T (p.Ile488=) rs907927925 0.00001
NM_152618.3(BBS12):c.1512C>T (p.Leu504=) rs777299324 0.00001
NM_152618.3(BBS12):c.1521A>G (p.Pro507=) rs778636035 0.00001
NM_152618.3(BBS12):c.1554G>A (p.Arg518=) rs769108774 0.00001
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.1623A>T (p.Ala541=) rs368003653 0.00001
NM_152618.3(BBS12):c.1809A>G (p.Leu603=) rs141393809 0.00001
NM_152618.3(BBS12):c.1884C>T (p.Asp628=) rs1463043869 0.00001
NM_152618.3(BBS12):c.1899A>G (p.Ser633=) rs892531107 0.00001
NM_152618.3(BBS12):c.18A>G (p.Arg6=) rs373705066 0.00001
NM_152618.3(BBS12):c.1998T>C (p.Val666=) rs1480476254 0.00001
NM_152618.3(BBS12):c.2001A>G (p.Thr667=) rs539331301 0.00001
NM_152618.3(BBS12):c.2016G>A (p.Ala672=) rs186713451 0.00001
NM_152618.3(BBS12):c.2115G>T (p.Thr705=) rs1578492538 0.00001
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487 0.00001
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987 0.00001
NM_152618.3(BBS12):c.339A>T (p.Val113=) rs1180097077 0.00001
NM_152618.3(BBS12):c.34A>C (p.Arg12=) rs1292291520 0.00001
NM_152618.3(BBS12):c.438A>G (p.Thr146=) rs747471347 0.00001
NM_152618.3(BBS12):c.495A>G (p.Ser165=) rs973455617 0.00001
NM_152618.3(BBS12):c.624A>G (p.Ala208=) rs1423331367 0.00001
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953 0.00001
NM_152618.3(BBS12):c.765T>C (p.His255=) rs185341959 0.00001
NM_152618.3(BBS12):c.789C>T (p.Tyr263=) rs974173261 0.00001
NM_152618.3(BBS12):c.802T>C (p.Leu268=) rs771195621 0.00001
NM_152618.3(BBS12):c.933C>T (p.Asp311=) rs777668587 0.00001
NM_152618.3(BBS12):c.942A>G (p.Arg314=) rs1800904511 0.00001
NM_152732.5(RSPH9):c.671-5C>T rs760442254 0.00001
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.237G>A (p.Ser79=) rs555921512 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=) rs766110263 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=) rs774011311 0.00001
NM_153704.6(TMEM67):c.1773+14T>A rs1370201374 0.00001
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_153704.6(TMEM67):c.223+9G>A rs1264088122 0.00001
NM_153704.6(TMEM67):c.231A>G (p.Ser77=) rs769535902 0.00001
NM_153704.6(TMEM67):c.2323-12C>A rs1007807232 0.00001
NM_153704.6(TMEM67):c.2370T>C (p.His790=) rs1475347154 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 0.00001
NM_153704.6(TMEM67):c.651+20T>G rs767640779 0.00001
NM_153704.6(TMEM67):c.652-6T>C rs1282835643 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.783C>T (p.Asp261=) rs780748968 0.00001
NM_153704.6(TMEM67):c.79C>T (p.Leu27=) rs763698200 0.00001
NM_153704.6(TMEM67):c.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_170784.3(MKKS):c.1059A>G (p.Ala353=) rs768799434 0.00001
NM_170784.3(MKKS):c.1104A>G (p.Ala368=) rs752192391 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1272+17T>G rs1433995589 0.00001
NM_170784.3(MKKS):c.1272+18C>T rs757800590 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1422T>C (p.Tyr474=) rs777980292 0.00001
NM_170784.3(MKKS):c.1578T>G (p.Leu526=) rs756442707 0.00001
NM_170784.3(MKKS):c.1599A>T (p.Ser533=) rs767432410 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.273T>C (p.Cys91=) rs1358889476 0.00001
NM_170784.3(MKKS):c.30A>T (p.Ser10=) rs752207403 0.00001
NM_170784.3(MKKS):c.525T>C (p.Ser175=) rs745771800 0.00001
NM_170784.3(MKKS):c.642A>G (p.Val214=) rs750470997 0.00001
NM_170784.3(MKKS):c.747C>T (p.Ser249=) rs187543885 0.00001
NM_170784.3(MKKS):c.780G>A (p.Val260=) rs781401127 0.00001
NM_170784.3(MKKS):c.783G>C (p.Val261=) rs751761252 0.00001
NM_170784.3(MKKS):c.945A>G (p.Arg315=) rs763720494 0.00001
NM_170784.3(MKKS):c.986-10T>G rs368654512 0.00001
NM_176824.3(BBS7):c.1011G>A (p.Glu337=) rs1726068187 0.00001
NM_176824.3(BBS7):c.103-15T>G rs368818439 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1053T>C (p.His351=) rs202187503 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.1231-15T>A rs530819337 0.00001
NM_176824.3(BBS7):c.1305+12T>C rs376754689 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1371+14A>C rs1725624096 0.00001
NM_176824.3(BBS7):c.1676+10A>G rs767020583 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1677-16del rs761923235 0.00001
NM_176824.3(BBS7):c.1725C>T (p.Ile575=) rs938747332 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.1917G>A (p.Thr639=) rs770239209 0.00001
NM_176824.3(BBS7):c.1989A>G (p.Gln663=) rs753795840 0.00001
NM_176824.3(BBS7):c.2082C>A (p.Pro694=) rs759152556 0.00001
NM_176824.3(BBS7):c.2136C>T (p.Phe712=) rs199782217 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_176824.3(BBS7):c.286A>C (p.Arg96=) rs754438760 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.849+18G>T rs1423156185 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.915C>T (p.Ile305=) rs776811172 0.00001
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=) rs766876325 0.00001
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=) rs1325549762 0.00001
NM_178452.6(DNAAF1):c.1699-5A>C rs748161119 0.00001
NM_178452.6(DNAAF1):c.1731G>A (p.Ser577=) rs759159646 0.00001
NM_178452.6(DNAAF1):c.1953C>T (p.Ser651=) rs766434597 0.00001
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) rs772036783 0.00001
NM_178452.6(DNAAF1):c.588C>T (p.Val196=) rs1351387084 0.00001
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=) rs759831401 0.00001
NM_178452.6(DNAAF1):c.864-12T>C rs375232772 0.00001
NM_181426.2(CCDC39):c.1167+8T>C rs766629332 0.00001
NM_181426.2(CCDC39):c.1200T>C (p.Gly400=) rs940815178 0.00001
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=) rs373094293 0.00001
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=) rs370618523 0.00001
NM_181426.2(CCDC39):c.1620C>T (p.Ile540=) rs776608064 0.00001
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=) rs774871939 0.00001
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=) rs1030308648 0.00001
NM_181426.2(CCDC39):c.1998+14del rs779120394 0.00001
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159 0.00001
NM_181426.2(CCDC39):c.211-13T>G rs991528026 0.00001
NM_181426.2(CCDC39):c.219C>T (p.Cys73=) rs766631443 0.00001
NM_181426.2(CCDC39):c.2280A>G (p.Thr760=) rs886038749 0.00001
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=) rs747568407 0.00001
NM_181426.2(CCDC39):c.2367G>A (p.Thr789=) rs201806641 0.00001
NM_181426.2(CCDC39):c.2565C>A (p.Ile855=) rs780932724 0.00001
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) rs751844801 0.00001
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) rs779897284 0.00001
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr) rs201125479 0.00001
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) rs576805965 0.00001
NM_181426.2(CCDC39):c.867A>G (p.Lys289=) rs1164674720 0.00001
NM_198428.3(BBS9):c.1016+13A>G rs1800275981 0.00001
NM_198428.3(BBS9):c.1016+9T>C rs1368671043 0.00001
NM_198428.3(BBS9):c.1056T>A (p.Gly352=) rs1815379840 0.00001
NM_198428.3(BBS9):c.112+13C>A rs1562672800 0.00001
NM_198428.3(BBS9):c.1287T>C (p.Asp429=) rs765234386 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1593A>G (p.Leu531=) rs1819915912 0.00001
NM_198428.3(BBS9):c.1686C>T (p.Leu562=) rs1278366304 0.00001
NM_198428.3(BBS9):c.1790-15A>T rs758380962 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1815A>G (p.Gln605=) rs1292611620 0.00001
NM_198428.3(BBS9):c.1963-11A>G rs749640684 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2116-4G>T rs769866686 0.00001
NM_198428.3(BBS9):c.2136A>G (p.Ala712=) rs1200861380 0.00001
NM_198428.3(BBS9):c.2142G>A (p.Glu714=) rs1846024220 0.00001
NM_198428.3(BBS9):c.2208G>A (p.Leu736=) rs758765828 0.00001
NM_198428.3(BBS9):c.2274G>A (p.Pro758=) rs746134918 0.00001
NM_198428.3(BBS9):c.231A>G (p.Pro77=) rs763936170 0.00001
NM_198428.3(BBS9):c.2433T>C (p.His811=) rs1850999612 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.2472T>C (p.Arg824=) rs753957320 0.00001
NM_198428.3(BBS9):c.263+13A>T rs374383847 0.00001
NM_198428.3(BBS9):c.2633-10T>C rs879202314 0.00001
NM_198428.3(BBS9):c.2658G>A (p.Ser886=) rs748336687 0.00001
NM_198428.3(BBS9):c.312T>C (p.Cys104=) rs1793992071 0.00001
NM_198428.3(BBS9):c.318C>T (p.Tyr106=) rs200476774 0.00001
NM_198428.3(BBS9):c.328+16A>G rs749205665 0.00001
NM_198428.3(BBS9):c.507T>C (p.Tyr169=) rs376901170 0.00001
NM_198428.3(BBS9):c.519A>G (p.Arg173=) rs911834235 0.00001
NM_198428.3(BBS9):c.930C>T (p.Asn310=) rs140396972 0.00001
NM_198428.3(BBS9):c.954G>A (p.Val318=) rs774067100 0.00001
NM_198525.3(KIF7):c.1062G>A (p.Thr354=) rs1284339153 0.00001
NM_198525.3(KIF7):c.1176A>G (p.Pro392=) rs1964060075 0.00001
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.1263C>T (p.Ser421=) rs1397050342 0.00001
NM_198525.3(KIF7):c.138C>T (p.Arg46=) rs1446813984 0.00001
NM_198525.3(KIF7):c.1444-9G>A rs761796364 0.00001
NM_198525.3(KIF7):c.1692T>C (p.His564=) rs1331513724 0.00001
NM_198525.3(KIF7):c.1788+11G>A rs747869900 0.00001
NM_198525.3(KIF7):c.1789-10A>C rs747897799 0.00001
NM_198525.3(KIF7):c.1789-11C>T rs771607225 0.00001
NM_198525.3(KIF7):c.1824G>A (p.Leu608=) rs201152117 0.00001
NM_198525.3(KIF7):c.1922+10A>T rs1045094847 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.2106G>A (p.Arg702=) rs1377904601 0.00001
NM_198525.3(KIF7):c.2136G>A (p.Glu712=) rs772511828 0.00001
NM_198525.3(KIF7):c.2148C>T (p.Asn716=) rs748726975 0.00001
NM_198525.3(KIF7):c.2191+8G>A rs776233268 0.00001
NM_198525.3(KIF7):c.2325G>A (p.Gln775=) rs1372575697 0.00001
NM_198525.3(KIF7):c.2334C>T (p.Gly778=) rs544281626 0.00001
NM_198525.3(KIF7):c.2394+7C>T rs370379362 0.00001
NM_198525.3(KIF7):c.2403G>A (p.Lys801=) rs777202140 0.00001
NM_198525.3(KIF7):c.2442G>A (p.Ser814=) rs773559812 0.00001
NM_198525.3(KIF7):c.2652C>T (p.Ile884=) rs750064265 0.00001
NM_198525.3(KIF7):c.2719-10T>C rs752594428 0.00001
NM_198525.3(KIF7):c.2727G>A (p.Glu909=) rs767533531 0.00001
NM_198525.3(KIF7):c.282T>A (p.Gly94=) rs776958371 0.00001
NM_198525.3(KIF7):c.2895+9C>T rs569730394 0.00001
NM_198525.3(KIF7):c.2896-9T>C rs746943281 0.00001
NM_198525.3(KIF7):c.2941C>T (p.Leu981=) rs1166900434 0.00001
NM_198525.3(KIF7):c.2974C>T (p.Leu992=) rs867666556 0.00001
NM_198525.3(KIF7):c.3072C>T (p.Ile1024=) rs1031833576 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3112-16G>A rs771009677 0.00001
NM_198525.3(KIF7):c.3129C>T (p.Phe1043=) rs1471724212 0.00001
NM_198525.3(KIF7):c.3147C>T (p.Ile1049=) rs1287671158 0.00001
NM_198525.3(KIF7):c.3204G>A (p.Arg1068=) rs762077405 0.00001
NM_198525.3(KIF7):c.3240C>T (p.Cys1080=) rs757004181 0.00001
NM_198525.3(KIF7):c.3285G>A (p.Glu1095=) rs774461779 0.00001
NM_198525.3(KIF7):c.329-12G>C rs1555425052 0.00001
NM_198525.3(KIF7):c.3318+20C>T rs747994640 0.00001
NM_198525.3(KIF7):c.333C>T (p.Ser111=) rs1452576966 0.00001
NM_198525.3(KIF7):c.3423C>G (p.Ala1141=) rs563944213 0.00001
NM_198525.3(KIF7):c.3465G>A (p.Leu1155=) rs141826578 0.00001
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=) rs886192389 0.00001
NM_198525.3(KIF7):c.3518-5T>A rs182815336 0.00001
NM_198525.3(KIF7):c.3664+10C>T rs755726739 0.00001
NM_198525.3(KIF7):c.3723G>A (p.Glu1241=) rs775895621 0.00001
NM_198525.3(KIF7):c.3774C>A (p.Ala1258=) rs769455694 0.00001
NM_198525.3(KIF7):c.3810C>T (p.His1270=) rs202197486 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198525.3(KIF7):c.436C>T (p.Leu146=) rs1015772039 0.00001
NM_198525.3(KIF7):c.471C>T (p.Leu157=) rs973284291 0.00001
NM_198525.3(KIF7):c.510A>G (p.Glu170=) rs761029778 0.00001
NM_198525.3(KIF7):c.530-4G>A rs1239408011 0.00001
NM_198525.3(KIF7):c.530-9T>C rs1229636750 0.00001
NM_198525.3(KIF7):c.558G>A (p.Val186=) rs958819012 0.00001
NM_198525.3(KIF7):c.660C>A (p.Val220=) rs886038762 0.00001
NM_198525.3(KIF7):c.678G>A (p.Glu226=) rs1029167779 0.00001
NM_198525.3(KIF7):c.702C>G (p.Arg234=) rs1365872087 0.00001
NM_198525.3(KIF7):c.795C>T (p.Thr265=) rs1423923369 0.00001
NM_198525.3(KIF7):c.923+11C>T rs1302839346 0.00001
NM_213607.3(CCDC103):c.348G>C (p.Gly116=) rs575078578 0.00001
NM_213607.3(CCDC103):c.439C>T (p.Leu147=) rs1178106681 0.00001
NM_213607.3(CCDC103):c.501A>G (p.Leu167=) rs374801461 0.00001
NM_213607.3(CCDC103):c.513G>A (p.Ala171=) rs557822238 0.00001
NM_213607.3(CCDC103):c.558A>C (p.Ala186=) rs1034464450 0.00001
NM_213607.3(CCDC103):c.567G>A (p.Glu189=) rs771177851 0.00001
NM_213607.3(CCDC103):c.705G>C (p.Leu235=) rs878855312 0.00001
NM_213607.3(CCDC103):c.72G>A (p.Glu24=) rs752532336 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_000152.5(GAA):c.-75C>G rs80020206
NM_000328.3(RPGR):c.2052A>G (p.Glu684=)
NM_000328.3(RPGR):c.2076T>A (p.Ala692=)
NM_000328.3(RPGR):c.2091+13A>G
NM_000328.3(RPGR):c.2091+7T>C
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)
NM_000328.3(RPGR):c.2116C>T (p.Arg706Trp)
NM_000328.3(RPGR):c.2149+12T>C
NM_000328.3(RPGR):c.2149+19A>G
NM_000328.3(RPGR):c.2150-10C>T
NM_000328.3(RPGR):c.2151A>T (p.Gly717=)
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)
NM_000328.3(RPGR):c.2172T>C (p.Asp724=)
NM_000328.3(RPGR):c.2241+10A>G
NM_000328.3(RPGR):c.2241+17_2241+18del
NM_000328.3(RPGR):c.2246T>C (p.Phe749Ser)
NM_000328.3(RPGR):c.2259A>G (p.Arg753=)
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_000328.3(RPGR):c.2286C>G (p.Val762=)
NM_000328.3(RPGR):c.2297A>G (p.Asn766Ser)
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)
NM_000328.3(RPGR):c.2325A>C (p.Ile775=)
NM_000328.3(RPGR):c.2355T>C (p.Asn785=)
NM_000328.3(RPGR):c.2394G>A (p.Gln798=)
NM_000328.3(RPGR):c.2439A>G (p.Thr813=)
NM_001009894.3(RLIG1):c.*1006_*1008dup
NM_001009894.3(RLIG1):c.*1008_*1013del rs753383814
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001010892.3(RSPH4A):c.1078T>C (p.Leu360=)
NM_001010892.3(RSPH4A):c.1086G>C (p.Leu362=)
NM_001010892.3(RSPH4A):c.1113G>A (p.Val371=)
NM_001010892.3(RSPH4A):c.1131A>G (p.Glu377=)
NM_001010892.3(RSPH4A):c.1158T>C (p.Asp386=)
NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)
NM_001010892.3(RSPH4A):c.1221A>G (p.Pro407=)
NM_001010892.3(RSPH4A):c.1248T>A (p.Ala416=)
NM_001010892.3(RSPH4A):c.1287T>C (p.Tyr429=)
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) rs563352149
NM_001010892.3(RSPH4A):c.1395A>C (p.Arg465=)
NM_001010892.3(RSPH4A):c.1404T>C (p.Ala468=) rs2115362226
NM_001010892.3(RSPH4A):c.1410C>T (p.Ile470=)
NM_001010892.3(RSPH4A):c.1419C>T (p.Tyr473=)
NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)
NM_001010892.3(RSPH4A):c.1497T>G (p.Pro499=)
NM_001010892.3(RSPH4A):c.1498C>T (p.Leu500=)
NM_001010892.3(RSPH4A):c.1545G>A (p.Glu515=) rs1775734186
NM_001010892.3(RSPH4A):c.1548A>T (p.Ala516=)
NM_001010892.3(RSPH4A):c.15C>A (p.Thr5=) rs2115350772
NM_001010892.3(RSPH4A):c.15C>T (p.Thr5=)
NM_001010892.3(RSPH4A):c.1641T>C (p.His547=)
NM_001010892.3(RSPH4A):c.1662+8C>A
NM_001010892.3(RSPH4A):c.1663-16C>T
NM_001010892.3(RSPH4A):c.1752A>G (p.Glu584=) rs914594241
NM_001010892.3(RSPH4A):c.1798+11G>C
NM_001010892.3(RSPH4A):c.1803T>A (p.Ile601=)
NM_001010892.3(RSPH4A):c.18C>T (p.Ser6=)
NM_001010892.3(RSPH4A):c.1917-15T>G
NM_001010892.3(RSPH4A):c.2094C>T (p.Leu698=)
NM_001010892.3(RSPH4A):c.255C>T (p.Val85=) rs759417066
NM_001010892.3(RSPH4A):c.261G>A (p.Pro87=) rs1060504544
NM_001010892.3(RSPH4A):c.375T>C (p.Pro125=)
NM_001010892.3(RSPH4A):c.396T>C (p.Ser132=)
NM_001010892.3(RSPH4A):c.465A>G (p.Gln155=)
NM_001010892.3(RSPH4A):c.495C>T (p.Asp165=) rs767593671
NM_001010892.3(RSPH4A):c.570T>C (p.Tyr190=)
NM_001010892.3(RSPH4A):c.585G>T (p.Pro195=)
NM_001010892.3(RSPH4A):c.675G>A (p.Ser225=)
NM_001010892.3(RSPH4A):c.686+13G>A
NM_001010892.3(RSPH4A):c.687-20A>C rs773538494
NM_001010892.3(RSPH4A):c.829T>C (p.Leu277=)
NM_001010892.3(RSPH4A):c.882A>C (p.Gly294=)
NM_001010892.3(RSPH4A):c.921+11A>T
NM_001010892.3(RSPH4A):c.981T>C (p.Val327=) rs1554249218
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
NM_001034853.2(RPGR):c.1032T>C (p.Ser344=)
NM_001034853.2(RPGR):c.1059+13C>T
NM_001034853.2(RPGR):c.1059+17del
NM_001034853.2(RPGR):c.1065T>C (p.Ala355=)
NM_001034853.2(RPGR):c.1080C>T (p.His360=)
NM_001034853.2(RPGR):c.1089T>G (p.Val363=)
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
NM_001034853.2(RPGR):c.1105C>G (p.Arg369Gly)
NM_001034853.2(RPGR):c.1106G>A (p.Arg369His)
NM_001034853.2(RPGR):c.1117_1119dup (p.Lys373_Glu374insLys)
NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)
NM_001034853.2(RPGR):c.1149T>A (p.Thr383=)
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
NM_001034853.2(RPGR):c.1176G>A (p.Pro392=)
NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)
NM_001034853.2(RPGR):c.1197A>G (p.Gly399=)
NM_001034853.2(RPGR):c.1201G>A (p.Val401Ile)
NM_001034853.2(RPGR):c.1204C>T (p.Leu402=)
NM_001034853.2(RPGR):c.1233G>T (p.Arg411=)
NM_001034853.2(RPGR):c.1245+7T>C
NM_001034853.2(RPGR):c.1246-17A>G
NM_001034853.2(RPGR):c.1251G>A (p.Arg417=)
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
NM_001034853.2(RPGR):c.1273A>G (p.Arg425Gly)
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
NM_001034853.2(RPGR):c.1329C>G (p.Pro443=) rs2147227730
NM_001034853.2(RPGR):c.1346G>A (p.Arg449Gln)
NM_001034853.2(RPGR):c.1414+13A>G
NM_001034853.2(RPGR):c.1414+18G>C
NM_001034853.2(RPGR):c.1414+19_1414+22del
NM_001034853.2(RPGR):c.1414+9T>C
NM_001034853.2(RPGR):c.1415-7C>A
NM_001034853.2(RPGR):c.1415-9A>T
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
NM_001034853.2(RPGR):c.1497C>A (p.Ile499=)
NM_001034853.2(RPGR):c.1506+16_1506+19del
NM_001034853.2(RPGR):c.1507-17T>A
NM_001034853.2(RPGR):c.1507-9T>C
NM_001034853.2(RPGR):c.154+11C>A
NM_001034853.2(RPGR):c.154+13A>G
NM_001034853.2(RPGR):c.1572+18A>G
NM_001034853.2(RPGR):c.1573-17C>T
NM_001034853.2(RPGR):c.1585A>C (p.Ile529Leu)
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
NM_001034853.2(RPGR):c.1599G>A (p.Thr533=)
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
NM_001034853.2(RPGR):c.1653A>G (p.Ser551=)
NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val)
NM_001034853.2(RPGR):c.1728C>A (p.Ile576=)
NM_001034853.2(RPGR):c.1734A>G (p.Ala578=)
NM_001034853.2(RPGR):c.1746G>A (p.Glu582=)
NM_001034853.2(RPGR):c.1754-10C>T
NM_001034853.2(RPGR):c.1754-13G>C
NM_001034853.2(RPGR):c.1784A>T (p.Asp595Val)
NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)
NM_001034853.2(RPGR):c.1875C>A (p.Ile625=)
NM_001034853.2(RPGR):c.1918A>G (p.Lys640Glu)
NM_001034853.2(RPGR):c.1921G>C (p.Ala641Pro)
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
NM_001034853.2(RPGR):c.2016G>A (p.Glu672=)
NM_001034853.2(RPGR):c.2043G>A (p.Lys681=)
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
NM_001034853.2(RPGR):c.2184G>A (p.Glu728=)
NM_001034853.2(RPGR):c.2220A>G (p.Glu740=)
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
NM_001034853.2(RPGR):c.2343G>A (p.Ala781=)
NM_001034853.2(RPGR):c.2385G>C (p.Glu795Asp)
NM_001034853.2(RPGR):c.2415G>C (p.Gly805=)
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
NM_001034853.2(RPGR):c.248-20C>T
NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)
NM_001034853.2(RPGR):c.2511G>A (p.Glu837=)
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5]) rs751710678
NM_001034853.2(RPGR):c.2526G>A (p.Gly842=)
NM_001034853.2(RPGR):c.2532GGA[1] (p.Glu846del)
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del) rs760332126
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=) rs750364695
NM_001034853.2(RPGR):c.2547G>A (p.Gly849=)
NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)
NM_001034853.2(RPGR):c.2565A>G (p.Glu855=)
NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
NM_001034853.2(RPGR):c.2589_2615del (p.860EEGEEGEGE[1])
NM_001034853.2(RPGR):c.2597AAGGGGAGGAAG[1] (p.866EGEE[1])
NM_001034853.2(RPGR):c.2601G>A (p.Gly867=)
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3]) rs769216492
NM_001034853.2(RPGR):c.2613G>T (p.Gly871=)
NM_001034853.2(RPGR):c.2616G>A (p.Glu872=)
NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3]) rs756520886
NM_001034853.2(RPGR):c.264A>G (p.Lys88=)
NM_001034853.2(RPGR):c.267G>C (p.Val89=) rs2147285733
NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2712A>G (p.Gly904=)
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) rs751721873
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
NM_001034853.2(RPGR):c.28+10G>T
NM_001034853.2(RPGR):c.28+18C>T
NM_001034853.2(RPGR):c.28+19G>T
NM_001034853.2(RPGR):c.28+9C>A
NM_001034853.2(RPGR):c.2820A>G (p.Glu940=)
NM_001034853.2(RPGR):c.2841G>A (p.Glu947=)
NM_001034853.2(RPGR):c.2856A>G (p.Glu952=)
NM_001034853.2(RPGR):c.2871G>A (p.Gly957=)
NM_001034853.2(RPGR):c.29-17C>A
NM_001034853.2(RPGR):c.2904G>A (p.Glu968=)
NM_001034853.2(RPGR):c.2919A>G (p.Glu973=)
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) rs772859148
NM_001034853.2(RPGR):c.2937G>C (p.Gly979=)
NM_001034853.2(RPGR):c.2940G>A (p.Glu980=)
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
NM_001034853.2(RPGR):c.294C>T (p.His98=)
NM_001034853.2(RPGR):c.2976G>A (p.Glu992=)
NM_001034853.2(RPGR):c.2988A>G (p.Glu996=)
NM_001034853.2(RPGR):c.3018G>A (p.Glu1006=)
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del) rs200955614
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1]) rs774012136
NM_001034853.2(RPGR):c.311-10C>A
NM_001034853.2(RPGR):c.311-20G>A
NM_001034853.2(RPGR):c.311-6G>A
NM_001034853.2(RPGR):c.311-7T>C
NM_001034853.2(RPGR):c.3114_3122del (p.Gly1039_Glu1041del)
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3204G>A (p.Lys1068=)
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
NM_001034853.2(RPGR):c.3291T>C (p.Tyr1097=)
NM_001034853.2(RPGR):c.3317A>G (p.Lys1106Arg)
NM_001034853.2(RPGR):c.3384A>C (p.Arg1128=)
NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)
NM_001034853.2(RPGR):c.3451T>C (p.Leu1151=)
NM_001034853.2(RPGR):c.360G>A (p.Gly120=)
NM_001034853.2(RPGR):c.39T>C (p.Ala13=)
NM_001034853.2(RPGR):c.414C>G (p.Ser138=)
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
NM_001034853.2(RPGR):c.42G>C (p.Val14=)
NM_001034853.2(RPGR):c.453T>G (p.Thr151=)
NM_001034853.2(RPGR):c.469+13del
NM_001034853.2(RPGR):c.469+18T>C
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
NM_001034853.2(RPGR):c.528T>C (p.Asn176=)
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile)
NM_001034853.2(RPGR):c.619+11T>C
NM_001034853.2(RPGR):c.619+18G>A rs368570763
NM_001034853.2(RPGR):c.620-17T>C
NM_001034853.2(RPGR):c.620-5A>G
NM_001034853.2(RPGR):c.620-6C>T
NM_001034853.2(RPGR):c.633A>G (p.Leu211=)
NM_001034853.2(RPGR):c.690C>A (p.Gly230=)
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
NM_001034853.2(RPGR):c.750T>C (p.Cys250=)
NM_001034853.2(RPGR):c.774C>T (p.Leu258=)
NM_001034853.2(RPGR):c.778+11A>G
NM_001034853.2(RPGR):c.778+16A>G
NM_001034853.2(RPGR):c.778+7G>A
NM_001034853.2(RPGR):c.779-16G>T
NM_001034853.2(RPGR):c.779-7C>G
NM_001034853.2(RPGR):c.843T>C (p.Phe281=)
NM_001034853.2(RPGR):c.872A>G (p.Asn291Ser)
NM_001034853.2(RPGR):c.918C>T (p.His306=)
NM_001034853.2(RPGR):c.934+11G>A
NM_001034853.2(RPGR):c.934+7A>G
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
NM_001034853.2(RPGR):c.942C>T (p.Gly314=)
NM_001034853.2(RPGR):c.972C>T (p.His324=)
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001080463.2(DYNC2H1):c.9837A>G (p.Ser3279=)
NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
NM_001082538.3(TCTN1):c.1104+14A>G
NM_001082538.3(TCTN1):c.1105-14G>C
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=) rs2136135794
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=)
NM_001082538.3(TCTN1):c.1191-17C>G
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)
NM_001082538.3(TCTN1):c.1331+15T>C
NM_001082538.3(TCTN1):c.1332-17_1332-15del rs1346752512
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=)
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=) rs2136172368
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
NM_001082538.3(TCTN1):c.1494+10A>G
NM_001082538.3(TCTN1):c.1494+9G>A
NM_001082538.3(TCTN1):c.1495-15C>G
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=) rs2067384815
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=) rs2136196716
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=) rs2067393633
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=) rs2136196962
NM_001082538.3(TCTN1):c.1636-13C>G rs2136202456
NM_001082538.3(TCTN1):c.1636-16T>G
NM_001082538.3(TCTN1):c.1636-20C>G
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=) rs200067409
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=)
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=) rs745624307
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)
NM_001082538.3(TCTN1):c.220+10A>C
NM_001082538.3(TCTN1):c.220+11T>C
NM_001082538.3(TCTN1):c.220+12dup
NM_001082538.3(TCTN1):c.220+15C>A
NM_001082538.3(TCTN1):c.221-12T>C rs2065291069
NM_001082538.3(TCTN1):c.221-8_221-7del
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=) rs2135904897
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=) rs2135826966
NM_001082538.3(TCTN1):c.341+10C>T rs201488724
NM_001082538.3(TCTN1):c.341+20A>G
NM_001082538.3(TCTN1):c.341+20A>T
NM_001082538.3(TCTN1):c.342-10T>A
NM_001082538.3(TCTN1):c.342-17del
NM_001082538.3(TCTN1):c.342-19T>C
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
NM_001082538.3(TCTN1):c.472+14A>G
NM_001082538.3(TCTN1):c.472+14_472+15del
NM_001082538.3(TCTN1):c.472+15T>C
NM_001082538.3(TCTN1):c.472+18A>G
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=) rs774402021
NM_001082538.3(TCTN1):c.624+12C>A
NM_001082538.3(TCTN1):c.625-16G>A rs1193239700
NM_001082538.3(TCTN1):c.625-16G>C
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.712+19T>G rs1407011800
NM_001082538.3(TCTN1):c.712+8del
NM_001082538.3(TCTN1):c.823-13T>C
NM_001082538.3(TCTN1):c.823-17G>C
NM_001082538.3(TCTN1):c.843+8TATT[2] rs775925984
NM_001082538.3(TCTN1):c.844-10C>T rs1565998186
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=) rs777519512
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=)
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=)
NM_001082538.3(TCTN1):c.978+9C>T rs1193894596
NM_001082538.3(TCTN1):c.979-8G>A rs1182390950
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001134831.2(AHI1):c.10+10C>T
NM_001134831.2(AHI1):c.10+14G>A
NM_001134831.2(AHI1):c.1011T>C (p.Cys337=)
NM_001134831.2(AHI1):c.1012T>C (p.Leu338=)
NM_001134831.2(AHI1):c.1023T>C (p.Asp341=) rs993439588
NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)
NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)
NM_001134831.2(AHI1):c.1051C>A (p.Arg351=) rs121434348
NM_001134831.2(AHI1):c.1056T>C (p.Thr352=)
NM_001134831.2(AHI1):c.1065T>C (p.Leu355=)
NM_001134831.2(AHI1):c.11-12T>C rs2128134488
NM_001134831.2(AHI1):c.11-13G>A
NM_001134831.2(AHI1):c.11-5T>C
NM_001134831.2(AHI1):c.11-6T>C
NM_001134831.2(AHI1):c.11-9C>A rs779186190
NM_001134831.2(AHI1):c.11-9C>G rs779186190
NM_001134831.2(AHI1):c.11-9C>T
NM_001134831.2(AHI1):c.1125T>A (p.Thr375=)
NM_001134831.2(AHI1):c.1151+16T>C
NM_001134831.2(AHI1):c.1151+19A>G
NM_001134831.2(AHI1):c.1151+20_1151+21del
NM_001134831.2(AHI1):c.1152-18G>T
NM_001134831.2(AHI1):c.1152-19A>G
NM_001134831.2(AHI1):c.1152-5T>C
NM_001134831.2(AHI1):c.1156C>A (p.Arg386=)
NM_001134831.2(AHI1):c.1167A>G (p.Ser389=)
NM_001134831.2(AHI1):c.1179A>G (p.Glu393=)
NM_001134831.2(AHI1):c.1185G>A (p.Glu395=)
NM_001134831.2(AHI1):c.1215C>G (p.Thr405=)
NM_001134831.2(AHI1):c.1236G>A (p.Gln412=)
NM_001134831.2(AHI1):c.1254A>G (p.Pro418=)
NM_001134831.2(AHI1):c.1293C>G (p.Pro431=)
NM_001134831.2(AHI1):c.1317G>A (p.Glu439=)
NM_001134831.2(AHI1):c.1326A>G (p.Lys442=) rs2128077134
NM_001134831.2(AHI1):c.1329C>A (p.Val443=)
NM_001134831.2(AHI1):c.1338C>T (p.Phe446=)
NM_001134831.2(AHI1):c.1344+10G>A
NM_001134831.2(AHI1):c.1344+10G>C
NM_001134831.2(AHI1):c.1344+15G>C
NM_001134831.2(AHI1):c.1344+17_1344+54del
NM_001134831.2(AHI1):c.1344+8T>A
NM_001134831.2(AHI1):c.1345-11T>A
NM_001134831.2(AHI1):c.135+10T>C
NM_001134831.2(AHI1):c.135+12A>C
NM_001134831.2(AHI1):c.135+15A>G
NM_001134831.2(AHI1):c.135+16T>C
NM_001134831.2(AHI1):c.136-12C>G
NM_001134831.2(AHI1):c.136-16A>G
NM_001134831.2(AHI1):c.136-17_136-15del
NM_001134831.2(AHI1):c.136-19del
NM_001134831.2(AHI1):c.136-20_136-15del
NM_001134831.2(AHI1):c.136-4T>G
NM_001134831.2(AHI1):c.1365G>A (p.Val455=)
NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)
NM_001134831.2(AHI1):c.1414C>A (p.Arg472=)
NM_001134831.2(AHI1):c.1425C>T (p.Ala475=)
NM_001134831.2(AHI1):c.1440+16A>G
NM_001134831.2(AHI1):c.1440+17T>C
NM_001134831.2(AHI1):c.1441-15A>C
NM_001134831.2(AHI1):c.1441-18A>G
NM_001134831.2(AHI1):c.1441-7T>C rs1787586295
NM_001134831.2(AHI1):c.1443T>C (p.Leu481=)
NM_001134831.2(AHI1):c.1455T>C (p.Asn485=) rs765844068
NM_001134831.2(AHI1):c.1491G>A (p.Gln497=)
NM_001134831.2(AHI1):c.1500C>T (p.Tyr500=)
NM_001134831.2(AHI1):c.1503A>G (p.Pro501=)
NM_001134831.2(AHI1):c.1512G>A (p.Lys504=)
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1518A>G (p.Arg506=) rs1460484266
NM_001134831.2(AHI1):c.1524A>G (p.Pro508=) rs368162800
NM_001134831.2(AHI1):c.1524A>T (p.Pro508=)
NM_001134831.2(AHI1):c.1527A>G (p.Leu509=) rs2128058989
NM_001134831.2(AHI1):c.156T>C (p.Asn52=)
NM_001134831.2(AHI1):c.1581A>G (p.Pro527=)
NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)
NM_001134831.2(AHI1):c.1641C>T (p.Tyr547=)
NM_001134831.2(AHI1):c.1644C>G (p.Arg548=) rs2128056589
NM_001134831.2(AHI1):c.165T>C (p.Tyr55=)
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_001134831.2(AHI1):c.1686T>C (p.His562=)
NM_001134831.2(AHI1):c.1710C>T (p.Ser570=)
NM_001134831.2(AHI1):c.1755A>C (p.Ile585=)
NM_001134831.2(AHI1):c.1764A>G (p.Lys588=)
NM_001134831.2(AHI1):c.1779+10T>C
NM_001134831.2(AHI1):c.1779+11T>C
NM_001134831.2(AHI1):c.1779+12G>A rs2128056072
NM_001134831.2(AHI1):c.1779+16A>G
NM_001134831.2(AHI1):c.1779+20_1779+32del
NM_001134831.2(AHI1):c.177T>C (p.Thr59=)
NM_001134831.2(AHI1):c.1780-11A>G
NM_001134831.2(AHI1):c.1780-13G>A
NM_001134831.2(AHI1):c.1780-8T>C
NM_001134831.2(AHI1):c.1780-9G>A
NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)
NM_001134831.2(AHI1):c.1824A>C (p.Gly608=)
NM_001134831.2(AHI1):c.1860T>C (p.Asn620=)
NM_001134831.2(AHI1):c.1875A>G (p.Ala625=)
NM_001134831.2(AHI1):c.1878A>G (p.Ala626=)
NM_001134831.2(AHI1):c.189+11C>T
NM_001134831.2(AHI1):c.189+13A>G
NM_001134831.2(AHI1):c.189+15C>T
NM_001134831.2(AHI1):c.189+16A>G
NM_001134831.2(AHI1):c.189+17C>G
NM_001134831.2(AHI1):c.189+18T>C
NM_001134831.2(AHI1):c.189+20A>C
NM_001134831.2(AHI1):c.189+7A>G
NM_001134831.2(AHI1):c.189+8C>T
NM_001134831.2(AHI1):c.1893G>T (p.Arg631=)
NM_001134831.2(AHI1):c.1899A>T (p.Gly633=)
NM_001134831.2(AHI1):c.190-12T>G
NM_001134831.2(AHI1):c.190-18_190-16del
NM_001134831.2(AHI1):c.190-19T>A
NM_001134831.2(AHI1):c.190-5C>T
NM_001134831.2(AHI1):c.190-6T>G
NM_001134831.2(AHI1):c.1912+10A>C rs750402394
NM_001134831.2(AHI1):c.1912+17C>G
NM_001134831.2(AHI1):c.1912+18C>A
NM_001134831.2(AHI1):c.1912+19T>A
NM_001134831.2(AHI1):c.1912+19dup rs756965683
NM_001134831.2(AHI1):c.1912+20G>A
NM_001134831.2(AHI1):c.1912+7A>G
NM_001134831.2(AHI1):c.1912+8A>T rs2128046089
NM_001134831.2(AHI1):c.1913-14A>C
NM_001134831.2(AHI1):c.1913-18_1913-17insTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
NM_001134831.2(AHI1):c.1913-19_1913-18insTGATAGCAGTGATGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA rs2128038204
NM_001134831.2(AHI1):c.1913-20_1913-19insGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
NM_001134831.2(AHI1):c.1913-4T>A
NM_001134831.2(AHI1):c.1913-5A>G
NM_001134831.2(AHI1):c.1913-8T>C
NM_001134831.2(AHI1):c.1914A>G (p.Leu638=)
NM_001134831.2(AHI1):c.1950G>A (p.Leu650=)
NM_001134831.2(AHI1):c.1959C>T (p.His653=)
NM_001134831.2(AHI1):c.1968C>T (p.Ile656=)
NM_001134831.2(AHI1):c.1989A>G (p.Ser663=)
NM_001134831.2(AHI1):c.2001C>T (p.His667=)
NM_001134831.2(AHI1):c.2007C>T (p.Ile669=)
NM_001134831.2(AHI1):c.2010T>C (p.Leu670=)
NM_001134831.2(AHI1):c.2016A>G (p.Ser672=)
NM_001134831.2(AHI1):c.2036+13G>C
NM_001134831.2(AHI1):c.2036+15G>A
NM_001134831.2(AHI1):c.2036+20A>G rs757547033
NM_001134831.2(AHI1):c.2036+20A>T rs757547033
NM_001134831.2(AHI1):c.2036+9C>A
NM_001134831.2(AHI1):c.2037-10C>A rs1483842780
NM_001134831.2(AHI1):c.2037-10C>T
NM_001134831.2(AHI1):c.2037-15C>G
NM_001134831.2(AHI1):c.2067T>C (p.Asn689=)
NM_001134831.2(AHI1):c.2115C>T (p.Phe705=)
NM_001134831.2(AHI1):c.2121A>G (p.Pro707=)
NM_001134831.2(AHI1):c.2136A>G (p.Leu712=)
NM_001134831.2(AHI1):c.2142T>C (p.Val714=)
NM_001134831.2(AHI1):c.2145A>G (p.Thr715=)
NM_001134831.2(AHI1):c.2145A>T (p.Thr715=) rs767255013
NM_001134831.2(AHI1):c.2148A>G (p.Gly716=) rs2128022727
NM_001134831.2(AHI1):c.2169G>A (p.Arg723=)
NM_001134831.2(AHI1):c.2169G>T (p.Arg723=) rs2128022641
NM_001134831.2(AHI1):c.216C>T (p.Pro72=)
NM_001134831.2(AHI1):c.2178A>G (p.Lys726=)
NM_001134831.2(AHI1):c.2181T>A (p.Val727=)
NM_001134831.2(AHI1):c.2206T>C (p.Leu736=)
NM_001134831.2(AHI1):c.2226T>G (p.Val742=)
NM_001134831.2(AHI1):c.222T>C (p.Ile74=) rs375875794
NM_001134831.2(AHI1):c.2247A>C (p.Ser749=)
NM_001134831.2(AHI1):c.2253T>C (p.Cys751=)
NM_001134831.2(AHI1):c.225A>G (p.Lys75=)
NM_001134831.2(AHI1):c.2262T>C (p.Thr754=)
NM_001134831.2(AHI1):c.2266+10A>T
NM_001134831.2(AHI1):c.2266+14T>A
NM_001134831.2(AHI1):c.2266+15A>G
NM_001134831.2(AHI1):c.2266+7C>T
NM_001134831.2(AHI1):c.2266+9_2266+18del
NM_001134831.2(AHI1):c.2267-11T>G
NM_001134831.2(AHI1):c.2267-12T>G
NM_001134831.2(AHI1):c.2267-14A>C rs1342603314
NM_001134831.2(AHI1):c.2267-16T>G
NM_001134831.2(AHI1):c.2267-19dup
NM_001134831.2(AHI1):c.2283A>G (p.Ser761=)
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)
NM_001134831.2(AHI1):c.2298G>A (p.Gly766=)
NM_001134831.2(AHI1):c.2319C>T (p.Thr773=)
NM_001134831.2(AHI1):c.2322T>C (p.Tyr774=)
NM_001134831.2(AHI1):c.2340G>A (p.Leu780=)
NM_001134831.2(AHI1):c.234A>C (p.Thr78=)
NM_001134831.2(AHI1):c.2355C>T (p.His785=)
NM_001134831.2(AHI1):c.2373+10C>A rs2128016462
NM_001134831.2(AHI1):c.2373+11A>G
NM_001134831.2(AHI1):c.2373+12T>C
NM_001134831.2(AHI1):c.2373+13A>G
NM_001134831.2(AHI1):c.2373+14T>C
NM_001134831.2(AHI1):c.2373+19T>C
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2374-12dup
NM_001134831.2(AHI1):c.2374-20A>G
NM_001134831.2(AHI1):c.2374-20A>T
NM_001134831.2(AHI1):c.2374-28GTA[2]
NM_001134831.2(AHI1):c.2374-7del
NM_001134831.2(AHI1):c.2391G>A (p.Glu797=)
NM_001134831.2(AHI1):c.2397G>A (p.Lys799=) rs747639578
NM_001134831.2(AHI1):c.2421G>A (p.Glu807=) rs864622356
NM_001134831.2(AHI1):c.2430C>G (p.Pro810=) rs765954155
NM_001134831.2(AHI1):c.2466T>C (p.Ser822=)
NM_001134831.2(AHI1):c.2492+15G>C
NM_001134831.2(AHI1):c.2492+20G>A
NM_001134831.2(AHI1):c.2492+20G>C
NM_001134831.2(AHI1):c.2493-15C>A
NM_001134831.2(AHI1):c.2493-5T>C
NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)
NM_001134831.2(AHI1):c.2514A>G (p.Val838=)
NM_001134831.2(AHI1):c.2544T>C (p.His848=)
NM_001134831.2(AHI1):c.2547T>C (p.Ser849=)
NM_001134831.2(AHI1):c.2559A>G (p.Pro853=)
NM_001134831.2(AHI1):c.255T>C (p.Ala85=)
NM_001134831.2(AHI1):c.2565G>A (p.Gly855=)
NM_001134831.2(AHI1):c.2565G>T (p.Gly855=)
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.2572C>T (p.Leu858=)
NM_001134831.2(AHI1):c.2574G>A (p.Leu858=)
NM_001134831.2(AHI1):c.2580T>C (p.Ala860=)
NM_001134831.2(AHI1):c.2598A>C (p.Ile866=) rs1448795637
NM_001134831.2(AHI1):c.2604T>C (p.Tyr868=)
NM_001134831.2(AHI1):c.2616A>G (p.Pro872=)
NM_001134831.2(AHI1):c.261T>C (p.Thr87=)
NM_001134831.2(AHI1):c.2623+10dup rs760987188
NM_001134831.2(AHI1):c.2623+11A>G
NM_001134831.2(AHI1):c.2623+16A>G
NM_001134831.2(AHI1):c.2623+17C>T
NM_001134831.2(AHI1):c.2623+18T>A rs2128009104
NM_001134831.2(AHI1):c.2624-13T>C
NM_001134831.2(AHI1):c.2624-14C>A
NM_001134831.2(AHI1):c.2624-16C>T
NM_001134831.2(AHI1):c.2624-16CT[2]
NM_001134831.2(AHI1):c.2624-17T>A rs1784050213
NM_001134831.2(AHI1):c.2624-18A>G
NM_001134831.2(AHI1):c.2624-4T>C
NM_001134831.2(AHI1):c.2624-8_2624-7del
NM_001134831.2(AHI1):c.2637C>A (p.Ala879=) rs1308009765
NM_001134831.2(AHI1):c.2637C>T (p.Ala879=)
NM_001134831.2(AHI1):c.2649C>T (p.Asp883=)
NM_001134831.2(AHI1):c.2664A>G (p.Ser888=) rs1296818217
NM_001134831.2(AHI1):c.2671C>A (p.Arg891=)
NM_001134831.2(AHI1):c.2706T>G (p.Val902=)
NM_001134831.2(AHI1):c.2718A>C (p.Ala906=)
NM_001134831.2(AHI1):c.2745G>T (p.Leu915=)
NM_001134831.2(AHI1):c.2764+11del
NM_001134831.2(AHI1):c.2764+13_2764+24del
NM_001134831.2(AHI1):c.2764+16G>A
NM_001134831.2(AHI1):c.2764+16G>T
NM_001134831.2(AHI1):c.2764+17A>C
NM_001134831.2(AHI1):c.2764+18T>A rs2128005584
NM_001134831.2(AHI1):c.2764+20A>G
NM_001134831.2(AHI1):c.2764+8_2764+10del rs768295818
NM_001134831.2(AHI1):c.2765-10A>G
NM_001134831.2(AHI1):c.2765-13T>C
NM_001134831.2(AHI1):c.2765-17T>G
NM_001134831.2(AHI1):c.2765-18A>G
NM_001134831.2(AHI1):c.2765-19T>C
NM_001134831.2(AHI1):c.2765-20T>G
NM_001134831.2(AHI1):c.2765-7T>G rs558638679
NM_001134831.2(AHI1):c.2765-8T>G
NM_001134831.2(AHI1):c.2771A>G (p.Gln924Arg)
NM_001134831.2(AHI1):c.2775G>A (p.Gln925=)
NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)
NM_001134831.2(AHI1):c.2802T>C (p.Asn934=)
NM_001134831.2(AHI1):c.2805A>C (p.Gly935=)
NM_001134831.2(AHI1):c.2805A>G (p.Gly935=)
NM_001134831.2(AHI1):c.283A>C (p.Arg95=)
NM_001134831.2(AHI1):c.2844C>G (p.Ala948=)
NM_001134831.2(AHI1):c.2844C>T (p.Ala948=)
NM_001134831.2(AHI1):c.2847A>G (p.Leu949=)
NM_001134831.2(AHI1):c.2859A>G (p.Pro953=)
NM_001134831.2(AHI1):c.285A>G (p.Arg95=) rs2128098757
NM_001134831.2(AHI1):c.2862A>G (p.Lys954=) rs2127974180
NM_001134831.2(AHI1):c.2865A>G (p.Leu955=)
NM_001134831.2(AHI1):c.288C>A (p.Val96=) rs2128098750
NM_001134831.2(AHI1):c.2895A>G (p.Glu965=)
NM_001134831.2(AHI1):c.2901C>T (p.Val967=)
NM_001134831.2(AHI1):c.2921C>T (p.Thr974Met) rs373303895
NM_001134831.2(AHI1):c.2934A>G (p.Leu978=)
NM_001134831.2(AHI1):c.2961+14A>T rs200731111
NM_001134831.2(AHI1):c.2961+16G>A rs199671265
NM_001134831.2(AHI1):c.2961+17C>A rs201291897
NM_001134831.2(AHI1):c.2961+17C>T rs201291897
NM_001134831.2(AHI1):c.2961+19G>A
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_001134831.2(AHI1):c.2961+7T>G rs200658320
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2961+7_2961+9delinsGAC rs2127973697
NM_001134831.2(AHI1):c.2961+8T>A rs199887601
NM_001134831.2(AHI1):c.2961+9A>C rs201870233
NM_001134831.2(AHI1):c.2961+9A>T rs201870233
NM_001134831.2(AHI1):c.2962-11A>G
NM_001134831.2(AHI1):c.2962-15_2962-12del
NM_001134831.2(AHI1):c.2962-16A>T
NM_001134831.2(AHI1):c.2962-18T>G
NM_001134831.2(AHI1):c.2964G>A (p.Glu988=) rs1356996626
NM_001134831.2(AHI1):c.297C>T (p.Asn99=)
NM_001134831.2(AHI1):c.2988+14A>G rs1780540353
NM_001134831.2(AHI1):c.2988+20A>G
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.2989-15G>C
NM_001134831.2(AHI1):c.2989-8T>C
NM_001134831.2(AHI1):c.3024A>T (p.Ala1008=)
NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)
NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)
NM_001134831.2(AHI1):c.3075A>G (p.Gln1025=)
NM_001134831.2(AHI1):c.3081T>C (p.Ile1027=)
NM_001134831.2(AHI1):c.3084A>G (p.Leu1028=)
NM_001134831.2(AHI1):c.309C>T (p.Asn103=)
NM_001134831.2(AHI1):c.3105G>A (p.Gln1035=)
NM_001134831.2(AHI1):c.3109+17C>G
NM_001134831.2(AHI1):c.3109+19T>C
NM_001134831.2(AHI1):c.3109+19T>G
NM_001134831.2(AHI1):c.3109+7C>T
NM_001134831.2(AHI1):c.3109+8C>A
NM_001134831.2(AHI1):c.3110-10C>A
NM_001134831.2(AHI1):c.3110-10C>G
NM_001134831.2(AHI1):c.3110-20dup
NM_001134831.2(AHI1):c.3110-4A>G
NM_001134831.2(AHI1):c.3110-6C>T
NM_001134831.2(AHI1):c.3110-9T>C
NM_001134831.2(AHI1):c.3111G>C (p.Gly1037=)
NM_001134831.2(AHI1):c.3126A>G (p.Glu1042=)
NM_001134831.2(AHI1):c.312A>G (p.Thr104=)
NM_001134831.2(AHI1):c.3156A>G (p.Thr1052=)
NM_001134831.2(AHI1):c.3165+9G>A
NM_001134831.2(AHI1):c.3166-12T>A
NM_001134831.2(AHI1):c.3166-13A>C
NM_001134831.2(AHI1):c.3166-14T>G
NM_001134831.2(AHI1):c.3166-16C>G
NM_001134831.2(AHI1):c.3166-17T>A
NM_001134831.2(AHI1):c.3166-5C>G
NM_001134831.2(AHI1):c.3166-7C>T
NM_001134831.2(AHI1):c.3166-9C>T
NM_001134831.2(AHI1):c.3196C>A (p.Arg1066=) rs780163791
NM_001134831.2(AHI1):c.3201A>C (p.Ser1067=)
NM_001134831.2(AHI1):c.3208C>T (p.Leu1070=)
NM_001134831.2(AHI1):c.3222C>T (p.Arg1074=)
NM_001134831.2(AHI1):c.3237A>G (p.Arg1079=)
NM_001134831.2(AHI1):c.3252T>C (p.Asp1084=) rs2128384644
NM_001134831.2(AHI1):c.3315T>C (p.His1105=)
NM_001134831.2(AHI1):c.3328+11T>C rs2128384460
NM_001134831.2(AHI1):c.3328+13C>T
NM_001134831.2(AHI1):c.3328+15C>G
NM_001134831.2(AHI1):c.3328+15C>T
NM_001134831.2(AHI1):c.3328+8T>G
NM_001134831.2(AHI1):c.3329-12T>C rs2128376571
NM_001134831.2(AHI1):c.3329-17C>T
NM_001134831.2(AHI1):c.3329-7A>C
NM_001134831.2(AHI1):c.3329-8A>G
NM_001134831.2(AHI1):c.3329-9C>T
NM_001134831.2(AHI1):c.3330A>C (p.Thr1110=)
NM_001134831.2(AHI1):c.3345G>T (p.Leu1115=)
NM_001134831.2(AHI1):c.3351T>G (p.Pro1117=)
NM_001134831.2(AHI1):c.336T>C (p.Asn112=)
NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)
NM_001134831.2(AHI1):c.3426+11T>C
NM_001134831.2(AHI1):c.3426+12T>C rs1786313203
NM_001134831.2(AHI1):c.3426+18T>C
NM_001134831.2(AHI1):c.3426+20C>A
NM_001134831.2(AHI1):c.3426+20C>T
NM_001134831.2(AHI1):c.3427-14C>T
NM_001134831.2(AHI1):c.3427-6C>T
NM_001134831.2(AHI1):c.3427-8T>G
NM_001134831.2(AHI1):c.3427-8_3427-6del rs559510247
NM_001134831.2(AHI1):c.3432A>G (p.Ser1144=)
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)
NM_001134831.2(AHI1):c.3450C>T (p.Ser1150=)
NM_001134831.2(AHI1):c.3453G>A (p.Gln1151=)
NM_001134831.2(AHI1):c.3456C>T (p.Asp1152=)
NM_001134831.2(AHI1):c.3471A>C (p.Ser1157=)
NM_001134831.2(AHI1):c.3485+16A>G rs2128350907
NM_001134831.2(AHI1):c.3485+17A>G
NM_001134831.2(AHI1):c.3485+18A>G
NM_001134831.2(AHI1):c.3485+8A>G
NM_001134831.2(AHI1):c.3486-10C>T
NM_001134831.2(AHI1):c.3486-11C>T
NM_001134831.2(AHI1):c.3486-15C>A
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3504A>G (p.Glu1168=) rs973295818
NM_001134831.2(AHI1):c.3510C>T (p.Ser1170=)
NM_001134831.2(AHI1):c.3543G>A (p.Arg1181=) rs1782201495
NM_001134831.2(AHI1):c.3567C>G (p.Gly1189=)
NM_001134831.2(AHI1):c.3568A>C (p.Arg1190=)
NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=) rs1337536400
NM_001134831.2(AHI1):c.3588+11A>C
NM_001134831.2(AHI1):c.3588+16A>G
NM_001134831.2(AHI1):c.3588+17T>C
NM_001134831.2(AHI1):c.3588+18A>T
NM_001134831.2(AHI1):c.3588+9A>G
NM_001134831.2(AHI1):c.3589-11T>C
NM_001134831.2(AHI1):c.3589-14A>G
NM_001134831.2(AHI1):c.3589-14A>T
NM_001134831.2(AHI1):c.3589-5dup rs763223260
NM_001134831.2(AHI1):c.372G>A (p.Lys124=)
NM_001134831.2(AHI1):c.381A>G (p.Lys127=)
NM_001134831.2(AHI1):c.390A>C (p.Ile130=)
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001134831.2(AHI1):c.414A>G (p.Thr138=)
NM_001134831.2(AHI1):c.428C>G (p.Pro143Arg) rs192524061
NM_001134831.2(AHI1):c.429G>A (p.Pro143=)
NM_001134831.2(AHI1):c.441G>A (p.Glu147=)
NM_001134831.2(AHI1):c.456T>G (p.Ser152=) rs1488249011
NM_001134831.2(AHI1):c.45C>G (p.Arg15=)
NM_001134831.2(AHI1):c.462C>T (p.His154=)
NM_001134831.2(AHI1):c.471A>G (p.Thr157=)
NM_001134831.2(AHI1):c.486G>A (p.Gln162=) rs2128098201
NM_001134831.2(AHI1):c.492C>T (p.Gly164=)
NM_001134831.2(AHI1):c.51A>G (p.Glu17=)
NM_001134831.2(AHI1):c.54A>G (p.Glu18=)
NM_001134831.2(AHI1):c.55T>C (p.Leu19=)
NM_001134831.2(AHI1):c.573A>G (p.Ala191=)
NM_001134831.2(AHI1):c.573A>T (p.Ala191=) rs200993978
NM_001134831.2(AHI1):c.57G>A (p.Leu19=)
NM_001134831.2(AHI1):c.582C>T (p.Cys194=)
NM_001134831.2(AHI1):c.606G>A (p.Lys202=)
NM_001134831.2(AHI1):c.624A>T (p.Ile208=)
NM_001134831.2(AHI1):c.63G>A (p.Lys21=) rs2128134408
NM_001134831.2(AHI1):c.663A>G (p.Ser221=)
NM_001134831.2(AHI1):c.681T>C (p.Asp227=)
NM_001134831.2(AHI1):c.684C>T (p.Asp228=)
NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu) rs748182443
NM_001134831.2(AHI1):c.738A>G (p.Lys246=)
NM_001134831.2(AHI1):c.744A>G (p.Glu248=) rs543954264
NM_001134831.2(AHI1):c.749+11A>C rs779376033
NM_001134831.2(AHI1):c.749+12T>C rs1236154279
NM_001134831.2(AHI1):c.749+13T>A
NM_001134831.2(AHI1):c.749+15A>G
NM_001134831.2(AHI1):c.749+17A>T rs943581343
NM_001134831.2(AHI1):c.750-10A>G
NM_001134831.2(AHI1):c.750-16T>C
NM_001134831.2(AHI1):c.750-18C>T
NM_001134831.2(AHI1):c.750-19A>G
NM_001134831.2(AHI1):c.750-19dup
NM_001134831.2(AHI1):c.753A>G (p.Thr251=)
NM_001134831.2(AHI1):c.756G>A (p.Leu252=)
NM_001134831.2(AHI1):c.765T>G (p.Ser255=)
NM_001134831.2(AHI1):c.813A>G (p.Ser271=)
NM_001134831.2(AHI1):c.849C>T (p.Ser283=)
NM_001134831.2(AHI1):c.885T>C (p.Asp295=)
NM_001134831.2(AHI1):c.888T>C (p.Asp296=)
NM_001134831.2(AHI1):c.891A>G (p.Thr297=)
NM_001134831.2(AHI1):c.903A>T (p.Pro301=)
NM_001134831.2(AHI1):c.931+14A>G
NM_001134831.2(AHI1):c.931+8A>C
NM_001134831.2(AHI1):c.932-12C>A
NM_001134831.2(AHI1):c.932-15T>C
NM_001134831.2(AHI1):c.932-7C>T
NM_001134831.2(AHI1):c.93A>G (p.Lys31=)
NM_001134831.2(AHI1):c.951T>C (p.Asp317=)
NM_001134831.2(AHI1):c.957T>C (p.Asp319=)
NM_001134831.2(AHI1):c.966T>C (p.Gly322=)
NM_001134831.2(AHI1):c.966T>G (p.Gly322=)
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094
NM_001134831.2(AHI1):c.992G>A (p.Ser331Asn) rs567183382
NM_001134831.2(AHI1):c.993C>T (p.Ser331=)
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.108G>A (p.Leu36=)
NM_001173990.3(TMEM216):c.109C>T (p.Leu37=)
NM_001173990.3(TMEM216):c.111G>A (p.Leu37=)
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.132T>C (p.Tyr44=) rs2135190185
NM_001173990.3(TMEM216):c.136+10G>A
NM_001173990.3(TMEM216):c.136+10G>C rs997518388
NM_001173990.3(TMEM216):c.136+10G>T rs997518388
NM_001173990.3(TMEM216):c.136+11C>T
NM_001173990.3(TMEM216):c.136+16G>T
NM_001173990.3(TMEM216):c.136+17G>T
NM_001173990.3(TMEM216):c.136+19T>C
NM_001173990.3(TMEM216):c.136+7A>G rs2135190198
NM_001173990.3(TMEM216):c.136+7_136+10del rs1365805182
NM_001173990.3(TMEM216):c.136+9G>C
NM_001173990.3(TMEM216):c.137-10G>C rs1410739356
NM_001173990.3(TMEM216):c.137-17G>A
NM_001173990.3(TMEM216):c.137-18dup
NM_001173990.3(TMEM216):c.137-8A>G rs2135190973
NM_001173990.3(TMEM216):c.138T>C (p.Gly46=)
NM_001173990.3(TMEM216):c.142C>T (p.Leu48=)
NM_001173990.3(TMEM216):c.147A>G (p.Leu49=) rs2135191066
NM_001173990.3(TMEM216):c.166C>T (p.Leu56=) rs751270974
NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)
NM_001173990.3(TMEM216):c.189C>A (p.Leu63=)
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
NM_001173990.3(TMEM216):c.213A>G (p.Val71=) rs1590642429
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.219C>T (p.Arg73=)
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.229+15G>C
NM_001173990.3(TMEM216):c.229+17G>A
NM_001173990.3(TMEM216):c.229+19A>G
NM_001173990.3(TMEM216):c.230-12T>C
NM_001173990.3(TMEM216):c.230-16G>A
NM_001173990.3(TMEM216):c.230-20C>T
NM_001173990.3(TMEM216):c.240A>G (p.Gly80=)
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.264G>C (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.273T>C (p.Ile91=) rs1301636574
NM_001173990.3(TMEM216):c.279G>A (p.Val93=)
NM_001173990.3(TMEM216):c.27G>T (p.Ala9=) rs2135189216
NM_001173990.3(TMEM216):c.282C>A (p.Ala94=) rs2135196141
NM_001173990.3(TMEM216):c.282C>T (p.Ala94=)
NM_001173990.3(TMEM216):c.312C>T (p.Ser104=) rs748312089
NM_001173990.3(TMEM216):c.322C>T (p.Leu108=) rs1468325310
NM_001173990.3(TMEM216):c.34+10C>G
NM_001173990.3(TMEM216):c.34+10C>T
NM_001173990.3(TMEM216):c.34+11G>A
NM_001173990.3(TMEM216):c.34+11G>T
NM_001173990.3(TMEM216):c.34+12G>A
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.34+7T>A
NM_001173990.3(TMEM216):c.345C>T (p.Arg115=) rs2135196327
NM_001173990.3(TMEM216):c.35-10C>G rs1425807113
NM_001173990.3(TMEM216):c.35-10_35-8dup
NM_001173990.3(TMEM216):c.35-13G>C
NM_001173990.3(TMEM216):c.35-18T>A
NM_001173990.3(TMEM216):c.35-18T>G
NM_001173990.3(TMEM216):c.35-6T>C rs2135189967
NM_001173990.3(TMEM216):c.35-8T>G
NM_001173990.3(TMEM216):c.35-9C>G rs1590641748
NM_001173990.3(TMEM216):c.354C>T (p.Ala118=) rs2135196342
NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)
NM_001173990.3(TMEM216):c.378C>T (p.Phe126=)
NM_001173990.3(TMEM216):c.387C>G (p.Gly129=)
NM_001173990.3(TMEM216):c.411C>T (p.Leu137=)
NM_001173990.3(TMEM216):c.414C>A (p.Thr138=) rs551378370
NM_001173990.3(TMEM216):c.414C>G (p.Thr138=)
NM_001173990.3(TMEM216):c.414C>T (p.Thr138=) rs551378370
NM_001173990.3(TMEM216):c.423T>C (p.Ala141=) rs1363465105
NM_001173990.3(TMEM216):c.431+10C>T
NM_001173990.3(TMEM216):c.431+17A>C
NM_001173990.3(TMEM216):c.431+7C>T rs976039770
NM_001173990.3(TMEM216):c.431+9G>A
NM_001173990.3(TMEM216):c.432-10G>A
NM_001173990.3(TMEM216):c.432-12T>C
NM_001173990.3(TMEM216):c.432-13A>G
NM_001173990.3(TMEM216):c.432-15C>A
NM_001173990.3(TMEM216):c.432-16G>C
NM_001173990.3(TMEM216):c.432-19T>C
NM_001173990.3(TMEM216):c.435T>A (p.Ile145=) rs2135196990
NM_001173990.3(TMEM216):c.43T>C (p.Leu15=)
NM_001173990.3(TMEM216):c.4C>T (p.Leu2=) rs1554972407
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3(TMEM216):c.67C>T (p.Leu23=) rs1346125980
NM_001173990.3(TMEM216):c.69G>A (p.Leu23=)
NM_001173990.3(TMEM216):c.6G>A (p.Leu2=)
NM_001173990.3(TMEM216):c.75T>C (p.Phe25=) rs2135190080
NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)
NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)
NM_001173990.3(TMEM216):c.84G>A (p.Gly28=) rs1237830618
NM_001174150.2(ARL13B):c.1006C>A (p.Arg336=)
NM_001174150.2(ARL13B):c.1023A>G (p.Ser341=) rs908792896
NM_001174150.2(ARL13B):c.1024+10_1024+11del rs780446984
NM_001174150.2(ARL13B):c.1024+22_1024+26del rs1443308353
NM_001174150.2(ARL13B):c.1024+9T>A
NM_001174150.2(ARL13B):c.1025-20T>C
NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=) rs2107191221
NM_001174150.2(ARL13B):c.1089T>C (p.Asn363=) rs2107191521
NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)
NM_001174150.2(ARL13B):c.1125C>T (p.Pro375=)
NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=) rs1401884380
NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=) rs1325555759
NM_001174150.2(ARL13B):c.1141+7A>G rs2107192117
NM_001174150.2(ARL13B):c.1142-12C>G
NM_001174150.2(ARL13B):c.1142-8_1142-3del rs748669767
NM_001174150.2(ARL13B):c.1164C>T (p.Val388=) rs1474936663
NM_001174150.2(ARL13B):c.1182T>A (p.Leu394=)
NM_001174150.2(ARL13B):c.1210+14A>G
NM_001174150.2(ARL13B):c.1210+16del rs2107198501
NM_001174150.2(ARL13B):c.1210+7C>A rs1315475247
NM_001174150.2(ARL13B):c.1210+9A>T
NM_001174150.2(ARL13B):c.1211-10C>A rs202221552
NM_001174150.2(ARL13B):c.1211-10C>T rs202221552
NM_001174150.2(ARL13B):c.1211-11T>A
NM_001174150.2(ARL13B):c.1211-18T>C
NM_001174150.2(ARL13B):c.1211-5_1211-4del
NM_001174150.2(ARL13B):c.1239G>C (p.Leu413=) rs2107208220
NM_001174150.2(ARL13B):c.1248A>G (p.Pro416=) rs753337159
NM_001174150.2(ARL13B):c.1284A>C (p.Ser428=)
NM_001174150.2(ARL13B):c.12G>C (p.Leu4=) rs1575912966
NM_001174150.2(ARL13B):c.130+7T>G
NM_001174150.2(ARL13B):c.130+8G>A
NM_001174150.2(ARL13B):c.131-11A>G rs1320529150
NM_001174150.2(ARL13B):c.131-9T>C
NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)
NM_001174150.2(ARL13B):c.380+8A>T rs1367254699
NM_001174150.2(ARL13B):c.429C>T (p.Val143=) rs2107111571
NM_001174150.2(ARL13B):c.454T>C (p.Leu152=)
NM_001174150.2(ARL13B):c.477G>T (p.Leu159=)
NM_001174150.2(ARL13B):c.486+12T>G rs778884829
NM_001174150.2(ARL13B):c.486+13T>G
NM_001174150.2(ARL13B):c.486+15T>A
NM_001174150.2(ARL13B):c.487-11T>C rs2107118009
NM_001174150.2(ARL13B):c.487-15_487-12del rs2107117976
NM_001174150.2(ARL13B):c.487-16T>C
NM_001174150.2(ARL13B):c.487-5T>C rs2076770928
NM_001174150.2(ARL13B):c.556C>T (p.Leu186=)
NM_001174150.2(ARL13B):c.57C>A (p.Val19=) rs1326813345
NM_001174150.2(ARL13B):c.59+14del
NM_001174150.2(ARL13B):c.59+15G>A
NM_001174150.2(ARL13B):c.59+18G>C rs748002391
NM_001174150.2(ARL13B):c.59+20C>G
NM_001174150.2(ARL13B):c.60-18A>G
NM_001174150.2(ARL13B):c.60-19A>T
NM_001174150.2(ARL13B):c.60-20T>A rs2107383939
NM_001174150.2(ARL13B):c.648A>G (p.Lys216=)
NM_001174150.2(ARL13B):c.689+12_689+13delinsCC rs2107120000
NM_001174150.2(ARL13B):c.689+8_689+11del rs2107119977
NM_001174150.2(ARL13B):c.6C>T (p.Phe2=) rs2107299111
NM_001174150.2(ARL13B):c.783A>G (p.Ala261=) rs1239193677
NM_001174150.2(ARL13B):c.798+16A>G
NM_001174150.2(ARL13B):c.798+8T>A rs1044514627
NM_001174150.2(ARL13B):c.798+8T>C rs1044514627
NM_001174150.2(ARL13B):c.799-18T>C rs2107150772
NM_001174150.2(ARL13B):c.807A>G (p.Gly269=)
NM_001174150.2(ARL13B):c.819A>G (p.Arg273=) rs2107151106
NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)
NM_001174150.2(ARL13B):c.996T>C (p.Asp332=)
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=)
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=) rs1232343628
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=)
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)
NM_001190787.3(MCIDAS):c.120+8G>C
NM_001190787.3(MCIDAS):c.121-6G>T
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=)
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=)
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=)
NM_001190787.3(MCIDAS):c.218-13_218-6dup rs771063151
NM_001190787.3(MCIDAS):c.218-15G>C
NM_001190787.3(MCIDAS):c.218-18C>T
NM_001190787.3(MCIDAS):c.218-4G>A
NM_001190787.3(MCIDAS):c.218-7C>A
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=)
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=)
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=)
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=)
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=)
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=)
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=)
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=)
NM_001190787.3(MCIDAS):c.309+7C>G
NM_001190787.3(MCIDAS):c.309+8C>T
NM_001190787.3(MCIDAS):c.309+9C>G
NM_001190787.3(MCIDAS):c.310-11G>T
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=)
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=)
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=)
NM_001190787.3(MCIDAS):c.382+18G>T
NM_001190787.3(MCIDAS):c.382+7G>A
NM_001190787.3(MCIDAS):c.383-10TCT[3]
NM_001190787.3(MCIDAS):c.383-14C>T
NM_001190787.3(MCIDAS):c.42C>T (p.Phe14=)
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=) rs1745376296
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=) rs903733014
NM_001190787.3(MCIDAS):c.606+16T>G
NM_001190787.3(MCIDAS):c.607-12C>T
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=)
NM_001190787.3(MCIDAS):c.717+16G>A rs2111690430
NM_001190787.3(MCIDAS):c.717+20G>A
NM_001190787.3(MCIDAS):c.718-5C>T
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=)
NM_001190787.3(MCIDAS):c.72A>G (p.Ala24=)
NM_001190787.3(MCIDAS):c.72A>T (p.Ala24=) rs2111703673
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=) rs199825346
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=)
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=) rs761064821
NM_001199397.3(NEK1):c.1017A>G (p.Lys339=) rs563173673
NM_001199397.3(NEK1):c.1020+20C>T
NM_001199397.3(NEK1):c.1021-15T>G
NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)
NM_001199397.3(NEK1):c.1081-6_1081-3del rs751377061
NM_001199397.3(NEK1):c.1081-7dup
NM_001199397.3(NEK1):c.1107A>G (p.Glu369=)
NM_001199397.3(NEK1):c.1149T>C (p.Ser383=)
NM_001199397.3(NEK1):c.114A>G (p.Ser38=) rs778749876
NM_001199397.3(NEK1):c.1179A>G (p.Gln393=)
NM_001199397.3(NEK1):c.1191+13T>C
NM_001199397.3(NEK1):c.1191+20A>C
NM_001199397.3(NEK1):c.1191+8G>A
NM_001199397.3(NEK1):c.1192-13C>G
NM_001199397.3(NEK1):c.1192-6C>T
NM_001199397.3(NEK1):c.1238T>C (p.Leu413Pro) rs755724871
NM_001199397.3(NEK1):c.1242T>C (p.Ser414=)
NM_001199397.3(NEK1):c.1266+18A>G
NM_001199397.3(NEK1):c.1266+20A>G
NM_001199397.3(NEK1):c.1287A>T (p.Gly429=)
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1430+10T>C
NM_001199397.3(NEK1):c.1430+13_1430+14insA rs2149909733
NM_001199397.3(NEK1):c.1450C>G (p.Arg484Gly) rs183378326
NM_001199397.3(NEK1):c.1482T>C (p.His494=) rs1580735647
NM_001199397.3(NEK1):c.1767G>A (p.Leu589=)
NM_001199397.3(NEK1):c.1797G>A (p.Glu599=)
NM_001199397.3(NEK1):c.1800C>T (p.Arg600=)
NM_001199397.3(NEK1):c.1821T>C (p.Leu607=)
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
NM_001199397.3(NEK1):c.1833+19T>C
NM_001199397.3(NEK1):c.1834-17del
NM_001199397.3(NEK1):c.183A>G (p.Pro61=)
NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)
NM_001199397.3(NEK1):c.1905A>G (p.Ser635=)
NM_001199397.3(NEK1):c.1911+19dup
NM_001199397.3(NEK1):c.1911+20C>A
NM_001199397.3(NEK1):c.1911+20C>T
NM_001199397.3(NEK1):c.1912-5T>C
NM_001199397.3(NEK1):c.1944A>G (p.Lys648=)
NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)
NM_001199397.3(NEK1):c.1995G>A (p.Val665=)
NM_001199397.3(NEK1):c.2008-5T>A
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)
NM_001199397.3(NEK1):c.214+16C>T
NM_001199397.3(NEK1):c.2140-14A>G
NM_001199397.3(NEK1):c.215-4G>A
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)
NM_001199397.3(NEK1):c.2193C>T (p.Asn731=) rs2149550010
NM_001199397.3(NEK1):c.2206-12C>T
NM_001199397.3(NEK1):c.2206-12_2206-10del
NM_001199397.3(NEK1):c.2358G>A (p.Lys786=)
NM_001199397.3(NEK1):c.2415A>T (p.Thr805=)
NM_001199397.3(NEK1):c.2434+10G>T
NM_001199397.3(NEK1):c.2435-15A>G
NM_001199397.3(NEK1):c.2435-16T>C
NM_001199397.3(NEK1):c.2435-8T>C rs2149501678
NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)
NM_001199397.3(NEK1):c.2451A>G (p.Glu817=) rs914051271
NM_001199397.3(NEK1):c.2505G>A (p.Pro835=)
NM_001199397.3(NEK1):c.2532A>G (p.Gly844=)
NM_001199397.3(NEK1):c.2587+16T>C
NM_001199397.3(NEK1):c.2587+18G>T
NM_001199397.3(NEK1):c.2764+11A>G
NM_001199397.3(NEK1):c.2764+12T>C
NM_001199397.3(NEK1):c.2765-15G>A
NM_001199397.3(NEK1):c.2765-16C>T rs746322641
NM_001199397.3(NEK1):c.2765-17dup rs1737847989
NM_001199397.3(NEK1):c.2796A>G (p.Gln932=)
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.2975-14C>T
NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala)
NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)
NM_001199397.3(NEK1):c.3081C>T (p.Val1027=)
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=)
NM_001199397.3(NEK1):c.3222+16A>C
NM_001199397.3(NEK1):c.3222+17A>C
NM_001199397.3(NEK1):c.3234A>G (p.Thr1078=)
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu) rs374890006
NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=)
NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=)
NM_001199397.3(NEK1):c.3375-10T>A
NM_001199397.3(NEK1):c.3438G>A (p.Arg1146=)
NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)
NM_001199397.3(NEK1):c.3474G>A (p.Glu1158=) rs758717476
NM_001199397.3(NEK1):c.3579C>T (p.His1193=)
NM_001199397.3(NEK1):c.3584-11T>C
NM_001199397.3(NEK1):c.3584-19_3584-15del
NM_001199397.3(NEK1):c.3584-20A>C
NM_001199397.3(NEK1):c.3715-12A>G
NM_001199397.3(NEK1):c.375T>C (p.Leu125=)
NM_001199397.3(NEK1):c.3843A>G (p.Gln1281=)
NM_001199397.3(NEK1):c.3847+13C>T
NM_001199397.3(NEK1):c.3847+16_3847+17del
NM_001199397.3(NEK1):c.396+20A>G
NM_001199397.3(NEK1):c.397-10T>C
NM_001199397.3(NEK1):c.397-20T>G
NM_001199397.3(NEK1):c.397-5T>C
NM_001199397.3(NEK1):c.464+19T>G rs2150086593
NM_001199397.3(NEK1):c.464+8G>A
NM_001199397.3(NEK1):c.607-16A>T
NM_001199397.3(NEK1):c.681T>C (p.Tyr227=)
NM_001199397.3(NEK1):c.693C>G (p.Leu231=)
NM_001199397.3(NEK1):c.705G>T (p.Val235=)
NM_001199397.3(NEK1):c.808-20T>G
NM_001199397.3(NEK1):c.843G>A (p.Ser281=)
NM_001199397.3(NEK1):c.869-13T>C
NM_001199397.3(NEK1):c.869-14A>G
NM_001199397.3(NEK1):c.869-7C>T
NM_001199397.3(NEK1):c.891A>G (p.Gln297=) rs2150034399
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001199397.3(NEK1):c.936C>T (p.Ala312=)
NM_001199397.3(NEK1):c.990C>T (p.His330=)
NM_001206927.2(DNAH8):c.10098G>A (p.Glu3366=)
NM_001206927.2(DNAH8):c.10101A>G (p.Ala3367=)
NM_001206927.2(DNAH8):c.10140+12A>G rs2150540668
NM_001206927.2(DNAH8):c.10140+15G>T
NM_001206927.2(DNAH8):c.10140+7A>G
NM_001206927.2(DNAH8):c.10141-11C>T
NM_001206927.2(DNAH8):c.10141-19T>C
NM_001206927.2(DNAH8):c.10176A>G (p.Lys3392=)
NM_001206927.2(DNAH8):c.10194T>C (p.His3398=)
NM_001206927.2(DNAH8):c.10269A>G (p.Glu3423=)
NM_001206927.2(DNAH8):c.10299G>A (p.Glu3433=)
NM_001206927.2(DNAH8):c.10308+14A>G
NM_001206927.2(DNAH8):c.10330C>T (p.Leu3444=)
NM_001206927.2(DNAH8):c.10341T>C (p.Leu3447=)
NM_001206927.2(DNAH8):c.10374G>A (p.Glu3458=)
NM_001206927.2(DNAH8):c.10395A>G (p.Pro3465=)
NM_001206927.2(DNAH8):c.10497C>A (p.Gly3499=)
NM_001206927.2(DNAH8):c.10524+15C>T
NM_001206927.2(DNAH8):c.10525-15TCT[2] rs748043587
NM_001206927.2(DNAH8):c.10525-19C>T
NM_001206927.2(DNAH8):c.10525-20C>A
NM_001206927.2(DNAH8):c.10662+8T>C rs1177385307
NM_001206927.2(DNAH8):c.10662+9A>G
NM_001206927.2(DNAH8):c.10663-12T>C
NM_001206927.2(DNAH8):c.10663-13A>G
NM_001206927.2(DNAH8):c.10790+13G>C
NM_001206927.2(DNAH8):c.10790+16T>G
NM_001206927.2(DNAH8):c.10790+8T>C
NM_001206927.2(DNAH8):c.10791-5C>T rs1781917959
NM_001206927.2(DNAH8):c.10887A>G (p.Glu3629=) rs1781925331
NM_001206927.2(DNAH8):c.10962+11C>G
NM_001206927.2(DNAH8):c.10962+19A>G
NM_001206927.2(DNAH8):c.10963-17C>T
NM_001206927.2(DNAH8):c.10992A>T (p.Pro3664=)
NM_001206927.2(DNAH8):c.10998T>C (p.Asp3666=) rs201841900
NM_001206927.2(DNAH8):c.11064A>G (p.Pro3688=)
NM_001206927.2(DNAH8):c.11118+20G>A rs754545702
NM_001206927.2(DNAH8):c.1116+14A>G
NM_001206927.2(DNAH8):c.1116+9A>C
NM_001206927.2(DNAH8):c.11169T>C (p.Leu3723=)
NM_001206927.2(DNAH8):c.11182C>T (p.Pro3728Ser) rs138016358
NM_001206927.2(DNAH8):c.11184C>G (p.Pro3728=) rs114401631
NM_001206927.2(DNAH8):c.11196G>A (p.Glu3732=)
NM_001206927.2(DNAH8):c.11265C>A (p.Thr3755=)
NM_001206927.2(DNAH8):c.11274+11_11274+13dup
NM_001206927.2(DNAH8):c.11274+11dup
NM_001206927.2(DNAH8):c.11274+12A>G
NM_001206927.2(DNAH8):c.11275-4G>A
NM_001206927.2(DNAH8):c.11334G>A (p.Thr3778=)
NM_001206927.2(DNAH8):c.11358C>T (p.Thr3786=) rs751697426
NM_001206927.2(DNAH8):c.11439C>G (p.Val3813=)
NM_001206927.2(DNAH8):c.11457+5TC[6] rs745611444
NM_001206927.2(DNAH8):c.11458-16T>G
NM_001206927.2(DNAH8):c.11526T>A (p.Leu3842=)
NM_001206927.2(DNAH8):c.11529A>G (p.Glu3843=) rs2150586198
NM_001206927.2(DNAH8):c.11556T>C (p.Ala3852=)
NM_001206927.2(DNAH8):c.11700C>A (p.Pro3900=) rs142515873
NM_001206927.2(DNAH8):c.11814C>A (p.Ala3938=)
NM_001206927.2(DNAH8):c.11819C>A (p.Ser3940Tyr)
NM_001206927.2(DNAH8):c.11949A>G (p.Leu3983=)
NM_001206927.2(DNAH8):c.11979G>A (p.Lys3993=) rs2150595534
NM_001206927.2(DNAH8):c.12000C>T (p.Leu4000=)
NM_001206927.2(DNAH8):c.12007+14G>C
NM_001206927.2(DNAH8):c.12008-19G>C
NM_001206927.2(DNAH8):c.12008-4C>T
NM_001206927.2(DNAH8):c.12018T>C (p.Ala4006=)
NM_001206927.2(DNAH8):c.12019C>T (p.Leu4007=)
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001206927.2(DNAH8):c.12114A>T (p.Ala4038=)
NM_001206927.2(DNAH8):c.12129+13A>G rs932186319
NM_001206927.2(DNAH8):c.12129+20G>C
NM_001206927.2(DNAH8):c.12130-13T>G
NM_001206927.2(DNAH8):c.12147G>A (p.Lys4049=)
NM_001206927.2(DNAH8):c.12248+13A>T
NM_001206927.2(DNAH8):c.12345G>A (p.Glu4115=)
NM_001206927.2(DNAH8):c.12393G>C (p.Leu4131=) rs2150635620
NM_001206927.2(DNAH8):c.123C>G (p.Ala41=)
NM_001206927.2(DNAH8):c.12452-12C>T
NM_001206927.2(DNAH8):c.12452-9A>G
NM_001206927.2(DNAH8):c.12526-20G>A
NM_001206927.2(DNAH8):c.12537A>T (p.Val4179=) rs2150694635
NM_001206927.2(DNAH8):c.12558T>C (p.Leu4186=)
NM_001206927.2(DNAH8):c.12561C>T (p.Gly4187=)
NM_001206927.2(DNAH8):c.12618T>C (p.Asp4206=)
NM_001206927.2(DNAH8):c.12625C>A (p.Arg4209=)
NM_001206927.2(DNAH8):c.12669A>G (p.Thr4223=)
NM_001206927.2(DNAH8):c.12678+14C>T
NM_001206927.2(DNAH8):c.12679-4A>G
NM_001206927.2(DNAH8):c.12681C>T (p.Thr4227=)
NM_001206927.2(DNAH8):c.126G>A (p.Pro42=)
NM_001206927.2(DNAH8):c.12714T>G (p.Gly4238=)
NM_001206927.2(DNAH8):c.12795G>C (p.Pro4265=) rs188101498
NM_001206927.2(DNAH8):c.12834+15C>T
NM_001206927.2(DNAH8):c.12834+20T>C
NM_001206927.2(DNAH8):c.12835-11G>C
NM_001206927.2(DNAH8):c.12835-4T>C
NM_001206927.2(DNAH8):c.12835-7T>C
NM_001206927.2(DNAH8):c.12852C>T (p.Gly4284=)
NM_001206927.2(DNAH8):c.12876C>T (p.Tyr4292=)
NM_001206927.2(DNAH8):c.12897T>C (p.Phe4299=) rs2150713871
NM_001206927.2(DNAH8):c.1293+8G>C
NM_001206927.2(DNAH8):c.12951+13A>G
NM_001206927.2(DNAH8):c.12954T>G (p.Gly4318=)
NM_001206927.2(DNAH8):c.12984C>T (p.Ile4328=)
NM_001206927.2(DNAH8):c.13035A>G (p.Leu4345=)
NM_001206927.2(DNAH8):c.13053+20T>C
NM_001206927.2(DNAH8):c.13054-11C>G
NM_001206927.2(DNAH8):c.13215-4C>T rs373756546
NM_001206927.2(DNAH8):c.13287T>C (p.Gly4429=)
NM_001206927.2(DNAH8):c.13302G>A (p.Arg4434=)
NM_001206927.2(DNAH8):c.13371+10G>C rs766324900
NM_001206927.2(DNAH8):c.13372-5T>C
NM_001206927.2(DNAH8):c.13398C>A (p.Gly4466=)
NM_001206927.2(DNAH8):c.1350T>C (p.Asn450=) rs1234479484
NM_001206927.2(DNAH8):c.13524+13T>C
NM_001206927.2(DNAH8):c.13524+19A>G rs113624987
NM_001206927.2(DNAH8):c.13587G>A (p.Val4529=)
NM_001206927.2(DNAH8):c.13683G>T (p.Val4561=) rs201274048
NM_001206927.2(DNAH8):c.1368T>C (p.Thr456=)
NM_001206927.2(DNAH8):c.13722C>T (p.Leu4574=)
NM_001206927.2(DNAH8):c.13748G>T (p.Arg4583Leu) rs139227429
NM_001206927.2(DNAH8):c.13767A>G (p.Ala4589=)
NM_001206927.2(DNAH8):c.13773C>T (p.Asp4591=)
NM_001206927.2(DNAH8):c.1380G>A (p.Val460=)
NM_001206927.2(DNAH8):c.13824G>A (p.Thr4608=) rs776969419
NM_001206927.2(DNAH8):c.13827A>C (p.Ser4609=)
NM_001206927.2(DNAH8):c.13836+15G>A
NM_001206927.2(DNAH8):c.13836+7G>A
NM_001206927.2(DNAH8):c.13837-12T>G
NM_001206927.2(DNAH8):c.13837-4C>T
NM_001206927.2(DNAH8):c.13896G>C (p.Gly4632=) rs143487714
NM_001206927.2(DNAH8):c.1392C>T (p.Leu464=) rs2127595134
NM_001206927.2(DNAH8):c.13932G>A (p.Thr4644=)
NM_001206927.2(DNAH8):c.13941C>T (p.Pro4647=)
NM_001206927.2(DNAH8):c.13983C>T (p.Asp4661=)
NM_001206927.2(DNAH8):c.1428A>T (p.Ile476=)
NM_001206927.2(DNAH8):c.150C>T (p.Ser50=)
NM_001206927.2(DNAH8):c.1516-15C>A
NM_001206927.2(DNAH8):c.1516-15C>G
NM_001206927.2(DNAH8):c.1516-15C>T
NM_001206927.2(DNAH8):c.1516-20T>A
NM_001206927.2(DNAH8):c.156A>G (p.Glu52=)
NM_001206927.2(DNAH8):c.1617+19A>T
NM_001206927.2(DNAH8):c.1618-13_1618-8del
NM_001206927.2(DNAH8):c.1677T>A (p.Ile559=)
NM_001206927.2(DNAH8):c.1677T>C (p.Ile559=) rs201711281
NM_001206927.2(DNAH8):c.1692G>A (p.Gly564=)
NM_001206927.2(DNAH8):c.1743T>C (p.Ala581=)
NM_001206927.2(DNAH8):c.1743T>G (p.Ala581=)
NM_001206927.2(DNAH8):c.1764+12G>A
NM_001206927.2(DNAH8):c.1764+20C>T
NM_001206927.2(DNAH8):c.1765-11C>G
NM_001206927.2(DNAH8):c.1765-9C>G rs1767999643
NM_001206927.2(DNAH8):c.1794A>G (p.Thr598=)
NM_001206927.2(DNAH8):c.1827A>G (p.Gly609=)
NM_001206927.2(DNAH8):c.1950C>T (p.Ile650=)
NM_001206927.2(DNAH8):c.1963-13T>C
NM_001206927.2(DNAH8):c.1963-17T>A
NM_001206927.2(DNAH8):c.1992T>C (p.Ser664=)
NM_001206927.2(DNAH8):c.2040-18A>G
NM_001206927.2(DNAH8):c.2058T>C (p.Ile686=)
NM_001206927.2(DNAH8):c.2085C>T (p.His695=)
NM_001206927.2(DNAH8):c.2127T>C (p.Asp709=)
NM_001206927.2(DNAH8):c.2139+16A>G
NM_001206927.2(DNAH8):c.2181C>T (p.Asn727=)
NM_001206927.2(DNAH8):c.2259+14T>C
NM_001206927.2(DNAH8):c.2260-8A>C
NM_001206927.2(DNAH8):c.2289C>T (p.Asp763=)
NM_001206927.2(DNAH8):c.2328T>C (p.Tyr776=)
NM_001206927.2(DNAH8):c.2364C>T (p.Ala788=)
NM_001206927.2(DNAH8):c.2388G>A (p.Leu796=)
NM_001206927.2(DNAH8):c.2396-18A>G
NM_001206927.2(DNAH8):c.2487T>C (p.Thr829=) rs2127649096
NM_001206927.2(DNAH8):c.24C>A (p.Gly8=)
NM_001206927.2(DNAH8):c.2565A>G (p.Ala855=) rs2127649289
NM_001206927.2(DNAH8):c.2583+18T>A
NM_001206927.2(DNAH8):c.2584-20G>A
NM_001206927.2(DNAH8):c.2649C>T (p.Thr883=) rs377274564
NM_001206927.2(DNAH8):c.2665-9C>T
NM_001206927.2(DNAH8):c.2680A>C (p.Arg894=)
NM_001206927.2(DNAH8):c.2685A>G (p.Gln895=) rs878854273
NM_001206927.2(DNAH8):c.270G>A (p.Pro90=) rs180723141
NM_001206927.2(DNAH8):c.2763C>T (p.Phe921=)
NM_001206927.2(DNAH8):c.276G>T (p.Pro92=) rs185117089
NM_001206927.2(DNAH8):c.2781+7T>G
NM_001206927.2(DNAH8):c.2781+8C>G
NM_001206927.2(DNAH8):c.2781+9T>C
NM_001206927.2(DNAH8):c.2851C>T (p.Leu951=) rs1554211685
NM_001206927.2(DNAH8):c.285A>G (p.Ser95=)
NM_001206927.2(DNAH8):c.2892C>A (p.Thr964=)
NM_001206927.2(DNAH8):c.301C>T (p.Leu101=)
NM_001206927.2(DNAH8):c.3034+16A>C rs2150297015
NM_001206927.2(DNAH8):c.3117T>C (p.Phe1039=)
NM_001206927.2(DNAH8):c.3150+13G>A
NM_001206927.2(DNAH8):c.3150+15A>C
NM_001206927.2(DNAH8):c.3150+15A>G
NM_001206927.2(DNAH8):c.3189A>G (p.Leu1063=)
NM_001206927.2(DNAH8):c.318C>T (p.Ser106=)
NM_001206927.2(DNAH8):c.3257+12A>G
NM_001206927.2(DNAH8):c.3257+16G>A
NM_001206927.2(DNAH8):c.3327T>G (p.Pro1109=)
NM_001206927.2(DNAH8):c.3333+10A>G rs1772039551
NM_001206927.2(DNAH8):c.3333+17A>G
NM_001206927.2(DNAH8):c.3333+18C>A rs768718204
NM_001206927.2(DNAH8):c.3375C>T (p.Asn1125=) rs1281084129
NM_001206927.2(DNAH8):c.339C>G (p.Arg113=)
NM_001206927.2(DNAH8):c.339C>T (p.Arg113=)
NM_001206927.2(DNAH8):c.33T>G (p.Ser11=)
NM_001206927.2(DNAH8):c.3523+15T>C
NM_001206927.2(DNAH8):c.3573G>A (p.Pro1191=)
NM_001206927.2(DNAH8):c.3585G>A (p.Glu1195=)
NM_001206927.2(DNAH8):c.3660C>T (p.Ala1220=)
NM_001206927.2(DNAH8):c.366A>G (p.Leu122=)
NM_001206927.2(DNAH8):c.3720+13T>C
NM_001206927.2(DNAH8):c.3721-19G>T
NM_001206927.2(DNAH8):c.3721-20T>G
NM_001206927.2(DNAH8):c.3847+17T>C rs1773074751
NM_001206927.2(DNAH8):c.3847+19_3847+20insGA
NM_001206927.2(DNAH8):c.3847+8A>C rs559665858
NM_001206927.2(DNAH8):c.3849G>A (p.Glu1283=) rs878854274
NM_001206927.2(DNAH8):c.3852G>A (p.Pro1284=) rs1201989372
NM_001206927.2(DNAH8):c.3906A>G (p.Arg1302=)
NM_001206927.2(DNAH8):c.3960T>C (p.Asn1320=)
NM_001206927.2(DNAH8):c.4008C>A (p.Val1336=)
NM_001206927.2(DNAH8):c.4083+14G>C
NM_001206927.2(DNAH8):c.4084-11T>C
NM_001206927.2(DNAH8):c.4189-12T>C
NM_001206927.2(DNAH8):c.4189-4G>A
NM_001206927.2(DNAH8):c.42A>C (p.Ala14=) rs933123302
NM_001206927.2(DNAH8):c.4302+17C>G
NM_001206927.2(DNAH8):c.4353A>C (p.Leu1451=)
NM_001206927.2(DNAH8):c.4365+15T>C
NM_001206927.2(DNAH8):c.4365+18T>A
NM_001206927.2(DNAH8):c.4366-9T>C
NM_001206927.2(DNAH8):c.4466+10G>C
NM_001206927.2(DNAH8):c.4467-15T>C
NM_001206927.2(DNAH8):c.4530T>C (p.Ser1510=) rs1422849459
NM_001206927.2(DNAH8):c.4604+11A>G
NM_001206927.2(DNAH8):c.4695A>C (p.Leu1565=)
NM_001206927.2(DNAH8):c.4776G>A (p.Val1592=)
NM_001206927.2(DNAH8):c.4782T>C (p.Ser1594=) rs1341087912
NM_001206927.2(DNAH8):c.4845+16C>T
NM_001206927.2(DNAH8):c.4983G>A (p.Ser1661=)
NM_001206927.2(DNAH8):c.5045+12dup
NM_001206927.2(DNAH8):c.5046-16C>T
NM_001206927.2(DNAH8):c.5055T>C (p.Ala1685=)
NM_001206927.2(DNAH8):c.5088T>C (p.Tyr1696=)
NM_001206927.2(DNAH8):c.5160C>T (p.Ala1720=)
NM_001206927.2(DNAH8):c.5199+12T>C
NM_001206927.2(DNAH8):c.525+12T>G
NM_001206927.2(DNAH8):c.5268C>T (p.Pro1756=)
NM_001206927.2(DNAH8):c.5271T>C (p.Asn1757=)
NM_001206927.2(DNAH8):c.5286T>C (p.Cys1762=)
NM_001206927.2(DNAH8):c.5298A>G (p.Glu1766=)
NM_001206927.2(DNAH8):c.5301C>G (p.Thr1767=)
NM_001206927.2(DNAH8):c.5364-14G>A
NM_001206927.2(DNAH8):c.5364-15C>T
NM_001206927.2(DNAH8):c.5409A>G (p.Val1803=) rs1775752647
NM_001206927.2(DNAH8):c.5457C>T (p.His1819=)
NM_001206927.2(DNAH8):c.5466+11A>T
NM_001206927.2(DNAH8):c.5466+15T>C
NM_001206927.2(DNAH8):c.5467-13C>A
NM_001206927.2(DNAH8):c.5467-18T>C
NM_001206927.2(DNAH8):c.5469G>A (p.Pro1823=)
NM_001206927.2(DNAH8):c.5499T>C (p.Asn1833=)
NM_001206927.2(DNAH8):c.5544C>T (p.Val1848=)
NM_001206927.2(DNAH8):c.5550A>G (p.Ser1850=) rs1554229084
NM_001206927.2(DNAH8):c.5571+15T>G rs2150391602
NM_001206927.2(DNAH8):c.5617C>T (p.Leu1873=)
NM_001206927.2(DNAH8):c.5637G>A (p.Gln1879=)
NM_001206927.2(DNAH8):c.5643A>G (p.Ser1881=) rs548987637
NM_001206927.2(DNAH8):c.5760G>A (p.Leu1920=)
NM_001206927.2(DNAH8):c.5766A>C (p.Thr1922=)
NM_001206927.2(DNAH8):c.5781G>A (p.Glu1927=)
NM_001206927.2(DNAH8):c.5802T>C (p.Asp1934=)
NM_001206927.2(DNAH8):c.5808G>A (p.Arg1936=) rs867862598
NM_001206927.2(DNAH8):c.5823G>C (p.Val1941=)
NM_001206927.2(DNAH8):c.5907C>T (p.Phe1969=)
NM_001206927.2(DNAH8):c.5937G>A (p.Gln1979=)
NM_001206927.2(DNAH8):c.5958+10del
NM_001206927.2(DNAH8):c.5958+15T>C rs2150401586
NM_001206927.2(DNAH8):c.6084A>G (p.Glu2028=) rs2150406911
NM_001206927.2(DNAH8):c.611-13C>A
NM_001206927.2(DNAH8):c.6131+11C>T
NM_001206927.2(DNAH8):c.6131+18C>T
NM_001206927.2(DNAH8):c.6131+19G>T rs527849962
NM_001206927.2(DNAH8):c.6131+24_6131+25dup
NM_001206927.2(DNAH8):c.6157T>C (p.Leu2053=)
NM_001206927.2(DNAH8):c.6311-14G>A
NM_001206927.2(DNAH8):c.6311-6T>C
NM_001206927.2(DNAH8):c.6324G>A (p.Ser2108=)
NM_001206927.2(DNAH8):c.6342T>C (p.Phe2114=)
NM_001206927.2(DNAH8):c.6373T>C (p.Leu2125=)
NM_001206927.2(DNAH8):c.6495G>T (p.Thr2165=) rs1338999745
NM_001206927.2(DNAH8):c.6498+12G>A
NM_001206927.2(DNAH8):c.6507A>G (p.Gly2169=)
NM_001206927.2(DNAH8):c.6516G>A (p.Gly2172=)
NM_001206927.2(DNAH8):c.6528A>G (p.Leu2176=)
NM_001206927.2(DNAH8):c.6586-19T>C rs372082500
NM_001206927.2(DNAH8):c.661T>C (p.Leu221=)
NM_001206927.2(DNAH8):c.6642T>C (p.Ala2214=)
NM_001206927.2(DNAH8):c.6693+12G>C
NM_001206927.2(DNAH8):c.6694-19C>T rs1178485847
NM_001206927.2(DNAH8):c.6733T>C (p.Leu2245=)
NM_001206927.2(DNAH8):c.6738G>A (p.Arg2246=)
NM_001206927.2(DNAH8):c.6741T>A (p.Thr2247=)
NM_001206927.2(DNAH8):c.6753A>G (p.Gln2251=)
NM_001206927.2(DNAH8):c.6804A>G (p.Leu2268=)
NM_001206927.2(DNAH8):c.6828+10C>T rs1341887992
NM_001206927.2(DNAH8):c.6828+17C>A
NM_001206927.2(DNAH8):c.6828+7_6828+8insGGAATA
NM_001206927.2(DNAH8):c.6855C>T (p.Leu2285=)
NM_001206927.2(DNAH8):c.6867T>C (p.Asn2289=)
NM_001206927.2(DNAH8):c.6906T>C (p.Tyr2302=)
NM_001206927.2(DNAH8):c.6957T>A (p.Ile2319=)
NM_001206927.2(DNAH8):c.6984C>T (p.Leu2328=)
NM_001206927.2(DNAH8):c.6990+17C>T
NM_001206927.2(DNAH8):c.6990+19A>G rs2150428725
NM_001206927.2(DNAH8):c.6991-13G>C
NM_001206927.2(DNAH8):c.7023G>A (p.Leu2341=) rs932781204
NM_001206927.2(DNAH8):c.7029T>A (p.Thr2343=)
NM_001206927.2(DNAH8):c.7104T>C (p.Pro2368=)
NM_001206927.2(DNAH8):c.7128A>G (p.Pro2376=)
NM_001206927.2(DNAH8):c.7245C>T (p.Asn2415=)
NM_001206927.2(DNAH8):c.72C>T (p.Ala24=)
NM_001206927.2(DNAH8):c.7302C>T (p.Ser2434=)
NM_001206927.2(DNAH8):c.7359C>T (p.Ala2453=)
NM_001206927.2(DNAH8):c.7386C>T (p.Val2462=)
NM_001206927.2(DNAH8):c.7470A>C (p.Pro2490=)
NM_001206927.2(DNAH8):c.7479+18GAA[4]
NM_001206927.2(DNAH8):c.7479+19A>G
NM_001206927.2(DNAH8):c.7524G>C (p.Leu2508=)
NM_001206927.2(DNAH8):c.7560A>G (p.Thr2520=)
NM_001206927.2(DNAH8):c.762+8del rs752866956
NM_001206927.2(DNAH8):c.763-7C>A rs1554196154
NM_001206927.2(DNAH8):c.7642T>C (p.Leu2548=)
NM_001206927.2(DNAH8):c.7677T>C (p.Cys2559=)
NM_001206927.2(DNAH8):c.768G>A (p.Ala256=)
NM_001206927.2(DNAH8):c.7731C>G (p.Ala2577=)
NM_001206927.2(DNAH8):c.7859-8T>C
NM_001206927.2(DNAH8):c.7863T>C (p.Asp2621=) rs1554126747
NM_001206927.2(DNAH8):c.788C>A (p.Ala263Glu) rs145115573
NM_001206927.2(DNAH8):c.8001+17G>A
NM_001206927.2(DNAH8):c.8001+19T>A
NM_001206927.2(DNAH8):c.8002-20C>T
NM_001206927.2(DNAH8):c.8043C>T (p.Val2681=)
NM_001206927.2(DNAH8):c.8059T>C (p.Leu2687=)
NM_001206927.2(DNAH8):c.8124A>G (p.Pro2708=) rs1583269175
NM_001206927.2(DNAH8):c.8137-16G>A
NM_001206927.2(DNAH8):c.8137-17C>T
NM_001206927.2(DNAH8):c.8137-9_8137-7del rs1554127096
NM_001206927.2(DNAH8):c.8142A>T (p.Thr2714=)
NM_001206927.2(DNAH8):c.8178A>G (p.Thr2726=)
NM_001206927.2(DNAH8):c.8259+11A>G
NM_001206927.2(DNAH8):c.8259+15T>C rs1337591682
NM_001206927.2(DNAH8):c.8259+16C>T
NM_001206927.2(DNAH8):c.8259+7C>T
NM_001206927.2(DNAH8):c.8311T>C (p.Leu2771=) rs1344469295
NM_001206927.2(DNAH8):c.8346T>C (p.Asp2782=)
NM_001206927.2(DNAH8):c.8358A>C (p.Ile2786=)
NM_001206927.2(DNAH8):c.8418A>G (p.Gln2806=)
NM_001206927.2(DNAH8):c.8454T>G (p.Ala2818=) rs1403815470
NM_001206927.2(DNAH8):c.8460A>T (p.Ile2820=)
NM_001206927.2(DNAH8):c.84A>G (p.Ser28=)
NM_001206927.2(DNAH8):c.8514C>T (p.Phe2838=)
NM_001206927.2(DNAH8):c.8574A>G (p.Gln2858=)
NM_001206927.2(DNAH8):c.8583+11G>A
NM_001206927.2(DNAH8):c.8583+16T>C
NM_001206927.2(DNAH8):c.8584-12T>G
NM_001206927.2(DNAH8):c.8619C>T (p.Tyr2873=)
NM_001206927.2(DNAH8):c.8679G>A (p.Glu2893=)
NM_001206927.2(DNAH8):c.8721C>T (p.His2907=)
NM_001206927.2(DNAH8):c.8727C>T (p.Cys2909=)
NM_001206927.2(DNAH8):c.8747+4C>T rs201261721
NM_001206927.2(DNAH8):c.8748-20C>G
NM_001206927.2(DNAH8):c.8748-4T>A rs945592343
NM_001206927.2(DNAH8):c.8748-8C>T
NM_001206927.2(DNAH8):c.8769G>A (p.Glu2923=) rs142674094
NM_001206927.2(DNAH8):c.8832G>A (p.Ser2944=)
NM_001206927.2(DNAH8):c.8832G>C (p.Ser2944=)
NM_001206927.2(DNAH8):c.8916T>C (p.Phe2972=)
NM_001206927.2(DNAH8):c.8940+13A>G
NM_001206927.2(DNAH8):c.8941-13_8941-10del
NM_001206927.2(DNAH8):c.8941-4A>G rs1779833059
NM_001206927.2(DNAH8):c.8941-5C>T
NM_001206927.2(DNAH8):c.9015A>T (p.Thr3005=)
NM_001206927.2(DNAH8):c.9063+10A>G
NM_001206927.2(DNAH8):c.9063+14C>G
NM_001206927.2(DNAH8):c.9064-19G>A
NM_001206927.2(DNAH8):c.9111T>A (p.Gly3037=)
NM_001206927.2(DNAH8):c.9126A>G (p.Gly3042=) rs1304105245
NM_001206927.2(DNAH8):c.9194+19C>T
NM_001206927.2(DNAH8):c.9195-14A>G
NM_001206927.2(DNAH8):c.9222T>C (p.Asp3074=)
NM_001206927.2(DNAH8):c.9237G>A (p.Leu3079=)
NM_001206927.2(DNAH8):c.9252T>A (p.Gly3084=) rs2150520392
NM_001206927.2(DNAH8):c.9255T>C (p.Ala3085=)
NM_001206927.2(DNAH8):c.9348+7C>T
NM_001206927.2(DNAH8):c.9349-11A>G
NM_001206927.2(DNAH8):c.9349-7C>A
NM_001206927.2(DNAH8):c.9459A>G (p.Glu3153=)
NM_001206927.2(DNAH8):c.9486C>T (p.Asn3162=)
NM_001206927.2(DNAH8):c.9501C>T (p.Leu3167=)
NM_001206927.2(DNAH8):c.9513+7_9513+10del
NM_001206927.2(DNAH8):c.9514-20G>C
NM_001206927.2(DNAH8):c.953-6T>C
NM_001206927.2(DNAH8):c.9579C>T (p.Asp3193=)
NM_001206927.2(DNAH8):c.9600G>A (p.Arg3200=)
NM_001206927.2(DNAH8):c.9717G>A (p.Glu3239=)
NM_001206927.2(DNAH8):c.9740+13A>G
NM_001206927.2(DNAH8):c.9740+8A>G
NM_001206927.2(DNAH8):c.9741-13G>A
NM_001206927.2(DNAH8):c.9741-13G>T
NM_001206927.2(DNAH8):c.9741-14T>C rs989642321
NM_001206927.2(DNAH8):c.9771A>G (p.Lys3257=)
NM_001206927.2(DNAH8):c.9792T>C (p.Asn3264=)
NM_001206927.2(DNAH8):c.9819G>A (p.Lys3273=) rs267601018
NM_001206927.2(DNAH8):c.9840G>A (p.Gln3280=)
NM_001206927.2(DNAH8):c.9859+5_9859+9dup
NM_001206927.2(DNAH8):c.9860-11T>C rs757770092
NM_001206927.2(DNAH8):c.9860-20A>G
NM_001206927.2(DNAH8):c.9960C>T (p.Asp3320=)
NM_001206927.2(DNAH8):c.9964-11C>G
NM_001206927.2(DNAH8):c.9964-20G>A
NM_001206927.2(DNAH8):c.999C>T (p.Asp333=)
NM_001206927.2(DNAH8):c.9G>A (p.Lys3=) rs565853864
NM_001244189.2(KIAA0586):c.9+12G>C rs2140365548
NM_001244189.2(KIAA0586):c.9+16C>T
NM_001256715.1(DNAAF3):c.-98G>C rs1188556854
NM_001256715.2(DNAAF3):c.-38G>A
NM_001256715.2(DNAAF3):c.-47G>A
NM_001256715.2(DNAAF3):c.-68G>C
NM_001256715.2(DNAAF3):c.1032G>A (p.Pro344=)
NM_001256715.2(DNAAF3):c.1048+12ACA[2] rs764506535
NM_001256715.2(DNAAF3):c.1048+14_1048+15delinsTC rs2147293871
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=)
NM_001256715.2(DNAAF3):c.1163+10G>T rs200324983
NM_001256715.2(DNAAF3):c.1163+8G>A
NM_001256715.2(DNAAF3):c.1164-10C>G rs2085781996
NM_001256715.2(DNAAF3):c.1164-5T>C
NM_001256715.2(DNAAF3):c.1164-8C>T
NM_001256715.2(DNAAF3):c.117T>C (p.Asp39=) rs886054642
NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)
NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)
NM_001256715.2(DNAAF3):c.1238+14G>A
NM_001256715.2(DNAAF3):c.1238+20G>A
NM_001256715.2(DNAAF3):c.1239-9_1239-8inv
NM_001256715.2(DNAAF3):c.123G>A (p.Val41=) rs369454066
NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)
NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)
NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=) rs1555865729
NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)
NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)
NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=) rs1371987115
NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)
NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=) rs1060504731
NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=)
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=)
NM_001256715.2(DNAAF3):c.216C>A (p.Arg72=)
NM_001256715.2(DNAAF3):c.228+10G>A rs528707553
NM_001256715.2(DNAAF3):c.243G>A (p.Glu81=) rs1272525932
NM_001256715.2(DNAAF3):c.246T>C (p.Asn82=)
NM_001256715.2(DNAAF3):c.303G>A (p.Pro101=)
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=)
NM_001256715.2(DNAAF3):c.322+13_322+16del rs2085920706
NM_001256715.2(DNAAF3):c.323-11TC[2]
NM_001256715.2(DNAAF3):c.323-5dup
NM_001256715.2(DNAAF3):c.323-6C>T
NM_001256715.2(DNAAF3):c.333G>A (p.Glu111=)
NM_001256715.2(DNAAF3):c.340C>T (p.Leu114=)
NM_001256715.2(DNAAF3):c.357C>T (p.Asn119=)
NM_001256715.2(DNAAF3):c.363G>C (p.Leu121=) rs551100219
NM_001256715.2(DNAAF3):c.381C>T (p.Ala127=)
NM_001256715.2(DNAAF3):c.384C>T (p.Ala128=)
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=) rs1056296743
NM_001256715.2(DNAAF3):c.432C>T (p.Pro144=) rs1346019516
NM_001256715.2(DNAAF3):c.435C>T (p.Asp145=)
NM_001256715.2(DNAAF3):c.462C>T (p.Leu154=) rs1599923335
NM_001256715.2(DNAAF3):c.481-8C>A
NM_001256715.2(DNAAF3):c.498C>T (p.Ala166=)
NM_001256715.2(DNAAF3):c.54C>A (p.Gly18=)
NM_001256715.2(DNAAF3):c.576G>A (p.Ser192=) rs755044326
NM_001256715.2(DNAAF3):c.576G>C (p.Ser192=)
NM_001256715.2(DNAAF3):c.580C>T (p.Leu194=)
NM_001256715.2(DNAAF3):c.594G>C (p.Leu198=)
NM_001256715.2(DNAAF3):c.618C>T (p.Arg206=)
NM_001256715.2(DNAAF3):c.649C>T (p.Leu217=)
NM_001256715.2(DNAAF3):c.660C>T (p.Arg220=)
NM_001256715.2(DNAAF3):c.663+11C>G
NM_001256715.2(DNAAF3):c.663+20G>A
NM_001256715.2(DNAAF3):c.664-13C>T
NM_001256715.2(DNAAF3):c.664-8C>A
NM_001256715.2(DNAAF3):c.702G>A (p.Arg234=)
NM_001256715.2(DNAAF3):c.708A>G (p.Thr236=) rs1253487279
NM_001256715.2(DNAAF3):c.72C>T (p.Asp24=)
NM_001256715.2(DNAAF3):c.771C>T (p.Ser257=) rs1319853706
NM_001256715.2(DNAAF3):c.781C>T (p.Leu261=) rs2147296328
NM_001256715.2(DNAAF3):c.783G>T (p.Leu261=)
NM_001256715.2(DNAAF3):c.790-12C>A
NM_001256715.2(DNAAF3):c.819C>T (p.Tyr273=) rs755713483
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
NM_001256715.2(DNAAF3):c.85+10A>C
NM_001256715.2(DNAAF3):c.85+17A>G
NM_001256715.2(DNAAF3):c.855C>T (p.Phe285=)
NM_001256715.2(DNAAF3):c.86-62G>A rs777155853
NM_001256715.2(DNAAF3):c.86-68T>C
NM_001256715.2(DNAAF3):c.86-68dup rs775192993
NM_001256715.2(DNAAF3):c.86-70T>G rs369434675
NM_001256715.2(DNAAF3):c.891G>C (p.Thr297=)
NM_001256715.2(DNAAF3):c.912+10G>A
NM_001256715.2(DNAAF3):c.912+13G>C
NM_001256715.2(DNAAF3):c.912+13del
NM_001256715.2(DNAAF3):c.912+7G>A
NM_001256715.2(DNAAF3):c.913-9T>C
NM_001256715.2(DNAAF3):c.915G>T (p.Thr305=) rs886054640
NM_001256715.2(DNAAF3):c.918C>G (p.Ala306=)
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
NM_001256715.2(DNAAF3):c.936C>T (p.His312=) rs1257841129
NM_001256715.2(DNAAF3):c.945G>A (p.Thr315=)
NM_001256715.2(DNAAF3):c.951G>C (p.Leu317=)
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) rs371092262
NM_001256715.2(DNAAF3):c.999C>T (p.Asp333=)
NM_001256715.2(DNAAF3):c.9A>G (p.Thr3=)
NM_001270974.2(HYDIN):c.9249-13T>A rs1798454
NM_001277115.2(DNAH11):c.10002A>G (p.Leu3334=)
NM_001277115.2(DNAH11):c.10005G>A (p.Glu3335=)
NM_001277115.2(DNAH11):c.10012A>T (p.Arg3338Trp)
NM_001277115.2(DNAH11):c.10026+12C>G
NM_001277115.2(DNAH11):c.10026+12C>T
NM_001277115.2(DNAH11):c.10026+14A>C
NM_001277115.2(DNAH11):c.10026+14A>G rs768160240
NM_001277115.2(DNAH11):c.10026+17A>G
NM_001277115.2(DNAH11):c.10026+18C>G
NM_001277115.2(DNAH11):c.10026+19A>G
NM_001277115.2(DNAH11):c.10026+20T>C
NM_001277115.2(DNAH11):c.10026+7G>A
NM_001277115.2(DNAH11):c.10026+7G>C
NM_001277115.2(DNAH11):c.10026+8C>A
NM_001277115.2(DNAH11):c.10027-12A>C
NM_001277115.2(DNAH11):c.10027-12A>T
NM_001277115.2(DNAH11):c.10027-14C>G
NM_001277115.2(DNAH11):c.10027-18A>C
NM_001277115.2(DNAH11):c.10027-4T>G
NM_001277115.2(DNAH11):c.10027-6A>C
NM_001277115.2(DNAH11):c.10027-6A>G
NM_001277115.2(DNAH11):c.10027-7G>T
NM_001277115.2(DNAH11):c.10035T>G (p.Asp3345Glu)
NM_001277115.2(DNAH11):c.10051C>T (p.Leu3351Phe)
NM_001277115.2(DNAH11):c.10056G>T (p.Thr3352=)
NM_001277115.2(DNAH11):c.10062A>T (p.Ser3354=)
NM_001277115.2(DNAH11):c.10067A>G (p.Glu3356Gly)
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu) rs369682703
NM_001277115.2(DNAH11):c.10094G>A (p.Cys3365Tyr)
NM_001277115.2(DNAH11):c.10125C>T (p.Thr3375=)
NM_001277115.2(DNAH11):c.10128C>G (p.Ile3376Met)
NM_001277115.2(DNAH11):c.10133T>C (p.Leu3378Ser)
NM_001277115.2(DNAH11):c.10136C>T (p.Ala3379Val)
NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp)
NM_001277115.2(DNAH11):c.10144C>T (p.Leu3382Phe)
NM_001277115.2(DNAH11):c.10165+18A>T
NM_001277115.2(DNAH11):c.10165+19A>C
NM_001277115.2(DNAH11):c.10165+19A>G
NM_001277115.2(DNAH11):c.10165+20A>G
NM_001277115.2(DNAH11):c.10165+8C>A
NM_001277115.2(DNAH11):c.10166-11C>T
NM_001277115.2(DNAH11):c.10166-13A>G
NM_001277115.2(DNAH11):c.10166-17T>C
NM_001277115.2(DNAH11):c.10166-7C>T
NM_001277115.2(DNAH11):c.10175G>A (p.Arg3392His)
NM_001277115.2(DNAH11):c.10180G>T (p.Gly3394Cys)
NM_001277115.2(DNAH11):c.10183C>A (p.Gln3395Lys)
NM_001277115.2(DNAH11):c.10197C>A (p.Ser3399=)
NM_001277115.2(DNAH11):c.10209A>G (p.Gln3403=) rs763819043
NM_001277115.2(DNAH11):c.10219C>G (p.Leu3407Val)
NM_001277115.2(DNAH11):c.10233T>A (p.Val3411=)
NM_001277115.2(DNAH11):c.10236T>A (p.Leu3412=)
NM_001277115.2(DNAH11):c.10239C>T (p.Leu3413=)
NM_001277115.2(DNAH11):c.1023T>C (p.Pro341=)
NM_001277115.2(DNAH11):c.10242G>A (p.Thr3414=)
NM_001277115.2(DNAH11):c.10242G>C (p.Thr3414=) rs559218045
NM_001277115.2(DNAH11):c.10242G>T (p.Thr3414=)
NM_001277115.2(DNAH11):c.10244C>T (p.Ala3415Val)
NM_001277115.2(DNAH11):c.10245G>T (p.Ala3415=)
NM_001277115.2(DNAH11):c.10260C>T (p.Tyr3420=)
NM_001277115.2(DNAH11):c.10263C>G (p.Val3421=)
NM_001277115.2(DNAH11):c.10263C>T (p.Val3421=)
NM_001277115.2(DNAH11):c.10269C>G (p.Pro3423=)
NM_001277115.2(DNAH11):c.10275A>G (p.Thr3425=)
NM_001277115.2(DNAH11):c.10287C>T (p.Arg3429=) rs2127996493
NM_001277115.2(DNAH11):c.10289A>G (p.Gln3430Arg)
NM_001277115.2(DNAH11):c.10293G>A (p.Glu3431=)
NM_001277115.2(DNAH11):c.10294C>T (p.Leu3432=)
NM_001277115.2(DNAH11):c.10296G>A (p.Leu3432=)
NM_001277115.2(DNAH11):c.10312G>T (p.Val3438Phe)
NM_001277115.2(DNAH11):c.10332+10G>C
NM_001277115.2(DNAH11):c.10332+13C>G
NM_001277115.2(DNAH11):c.10332+18C>A
NM_001277115.2(DNAH11):c.10332+19C>G
NM_001277115.2(DNAH11):c.10332+20T>C
NM_001277115.2(DNAH11):c.10333-10G>A
NM_001277115.2(DNAH11):c.10333-13T>A
NM_001277115.2(DNAH11):c.10333-17C>T
NM_001277115.2(DNAH11):c.10333-19T>C
NM_001277115.2(DNAH11):c.10333-20A>G
NM_001277115.2(DNAH11):c.10333-5T>G
NM_001277115.2(DNAH11):c.10333-6T>G
NM_001277115.2(DNAH11):c.10344A>G (p.Pro3448=)
NM_001277115.2(DNAH11):c.10350C>T (p.Thr3450=)
NM_001277115.2(DNAH11):c.10356C>A (p.Gly3452=)
NM_001277115.2(DNAH11):c.10357C>T (p.Leu3453=)
NM_001277115.2(DNAH11):c.1035C>A (p.His345Gln) rs139391790
NM_001277115.2(DNAH11):c.10371C>G (p.Ser3457=)
NM_001277115.2(DNAH11):c.10371C>T (p.Ser3457=)
NM_001277115.2(DNAH11):c.10374G>A (p.Met3458Ile)
NM_001277115.2(DNAH11):c.10377G>A (p.Leu3459=)
NM_001277115.2(DNAH11):c.10379C>A (p.Thr3460Lys) rs573384750
NM_001277115.2(DNAH11):c.10383T>C (p.Asp3461=)
NM_001277115.2(DNAH11):c.10401C>A (p.Ala3467=)
NM_001277115.2(DNAH11):c.10410C>T (p.Asn3470=)
NM_001277115.2(DNAH11):c.10437C>T (p.Ser3479=)
NM_001277115.2(DNAH11):c.10440C>A (p.Thr3480=)
NM_001277115.2(DNAH11):c.10440C>G (p.Thr3480=)
NM_001277115.2(DNAH11):c.10453A>G (p.Ile3485Val)
NM_001277115.2(DNAH11):c.10454T>C (p.Ile3485Thr)
NM_001277115.2(DNAH11):c.10456C>T (p.Leu3486=)
NM_001277115.2(DNAH11):c.10458A>G (p.Leu3486=)
NM_001277115.2(DNAH11):c.10464C>G (p.His3488Gln)
NM_001277115.2(DNAH11):c.10464C>T (p.His3488=)
NM_001277115.2(DNAH11):c.10473C>T (p.Arg3491=)
NM_001277115.2(DNAH11):c.10479T>G (p.Pro3493=)
NM_001277115.2(DNAH11):c.10482G>T (p.Leu3494=)
NM_001277115.2(DNAH11):c.10497G>A (p.Gln3499=)
NM_001277115.2(DNAH11):c.10500A>G (p.Gln3500=)
NM_001277115.2(DNAH11):c.10502A>T (p.Gln3501Leu)
NM_001277115.2(DNAH11):c.1050G>A (p.Gln350=)
NM_001277115.2(DNAH11):c.10511A>C (p.Lys3504Thr)
NM_001277115.2(DNAH11):c.10515G>T (p.Trp3505Cys)
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
NM_001277115.2(DNAH11):c.10535T>G (p.Met3512Arg)
NM_001277115.2(DNAH11):c.10568+11T>C
NM_001277115.2(DNAH11):c.10568+7G>A
NM_001277115.2(DNAH11):c.10569-12C>A
NM_001277115.2(DNAH11):c.10569-22_10569-16del
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=) rs886062182
NM_001277115.2(DNAH11):c.10574T>C (p.Leu3525Ser)
NM_001277115.2(DNAH11):c.10579G>A (p.Ala3527Thr)
NM_001277115.2(DNAH11):c.10599C>G (p.Ala3533=)
NM_001277115.2(DNAH11):c.105C>A (p.Leu35=)
NM_001277115.2(DNAH11):c.105C>T (p.Leu35=)
NM_001277115.2(DNAH11):c.10611C>A (p.Val3537=)
NM_001277115.2(DNAH11):c.10611C>T (p.Val3537=) rs2128000792
NM_001277115.2(DNAH11):c.10620T>A (p.Ile3540=) rs1554284618
NM_001277115.2(DNAH11):c.10641A>T (p.Ile3547=)
NM_001277115.2(DNAH11):c.10648G>C (p.Val3550Leu)
NM_001277115.2(DNAH11):c.10653G>T (p.Leu3551=)
NM_001277115.2(DNAH11):c.10659A>T (p.Pro3553=)
NM_001277115.2(DNAH11):c.10662A>G (p.Leu3554=)
NM_001277115.2(DNAH11):c.10674C>T (p.Asn3558=)
NM_001277115.2(DNAH11):c.10691+11T>C
NM_001277115.2(DNAH11):c.10691+12T>A
NM_001277115.2(DNAH11):c.10691+12del
NM_001277115.2(DNAH11):c.10691+15A>G
NM_001277115.2(DNAH11):c.10691+19T>C
NM_001277115.2(DNAH11):c.10691+20T>C rs2128000860
NM_001277115.2(DNAH11):c.10691+8T>G
NM_001277115.2(DNAH11):c.10692-16G>T rs886038456
NM_001277115.2(DNAH11):c.10692-18G>A
NM_001277115.2(DNAH11):c.10692-6G>A
NM_001277115.2(DNAH11):c.10692-6G>C
NM_001277115.2(DNAH11):c.10692-8C>T
NM_001277115.2(DNAH11):c.10696A>G (p.Ile3566Val)
NM_001277115.2(DNAH11):c.10703T>G (p.Ile3568Ser)
NM_001277115.2(DNAH11):c.10710T>C (p.Asp3570=)
NM_001277115.2(DNAH11):c.1071A>C (p.Thr357=)
NM_001277115.2(DNAH11):c.1071A>G (p.Thr357=) rs1026108125
NM_001277115.2(DNAH11):c.10734C>T (p.Asn3578=)
NM_001277115.2(DNAH11):c.10738C>T (p.Arg3580Cys)
NM_001277115.2(DNAH11):c.1073G>A (p.Arg358His)
NM_001277115.2(DNAH11):c.1073G>T (p.Arg358Leu)
NM_001277115.2(DNAH11):c.10746C>G (p.Ile3582Met)
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
NM_001277115.2(DNAH11):c.10749T>C (p.Leu3583=)
NM_001277115.2(DNAH11):c.10752C>T (p.His3584=)
NM_001277115.2(DNAH11):c.10755A>G (p.Thr3585=)
NM_001277115.2(DNAH11):c.10759T>C (p.Leu3587=)
NM_001277115.2(DNAH11):c.10764A>G (p.Ala3588=)
NM_001277115.2(DNAH11):c.10765A>T (p.Asn3589Tyr)
NM_001277115.2(DNAH11):c.10768C>G (p.Pro3590Ala)
NM_001277115.2(DNAH11):c.10779G>A (p.Lys3593=)
NM_001277115.2(DNAH11):c.1077A>G (p.Ile359Met)
NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu)
NM_001277115.2(DNAH11):c.10788A>G (p.Leu3596=)
NM_001277115.2(DNAH11):c.10797G>A (p.Gln3599=)
NM_001277115.2(DNAH11):c.10797G>T (p.Gln3599His)
NM_001277115.2(DNAH11):c.10800A>T (p.Thr3600=)
NM_001277115.2(DNAH11):c.10804C>G (p.Leu3602Val)
NM_001277115.2(DNAH11):c.10804C>T (p.Leu3602Phe)
NM_001277115.2(DNAH11):c.10817C>T (p.Thr3606Ile)
NM_001277115.2(DNAH11):c.10821C>T (p.Val3607=)
NM_001277115.2(DNAH11):c.10829A>G (p.Asp3610Gly)
NM_001277115.2(DNAH11):c.1083C>A (p.Ile361=)
NM_001277115.2(DNAH11):c.10845G>A (p.Gln3615=)
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro) rs771256529
NM_001277115.2(DNAH11):c.10851G>A (p.Leu3617=)
NM_001277115.2(DNAH11):c.10857G>A (p.Glu3619=)
NM_001277115.2(DNAH11):c.10896+12T>A
NM_001277115.2(DNAH11):c.10896+12del
NM_001277115.2(DNAH11):c.10896+14C>T
NM_001277115.2(DNAH11):c.10896+15G>A
NM_001277115.2(DNAH11):c.10896+16T>A
NM_001277115.2(DNAH11):c.10896+17C>T
NM_001277115.2(DNAH11):c.10896+18A>C
NM_001277115.2(DNAH11):c.10897-14T>C
NM_001277115.2(DNAH11):c.10897-15C>G
NM_001277115.2(DNAH11):c.10897-17T>G rs777407598
NM_001277115.2(DNAH11):c.10897-5A>G rs746604716
NM_001277115.2(DNAH11):c.1089A>G (p.Pro363=)
NM_001277115.2(DNAH11):c.10903T>C (p.Leu3635=)
NM_001277115.2(DNAH11):c.10917A>G (p.Gln3639=)
NM_001277115.2(DNAH11):c.10947G>A (p.Leu3649=)
NM_001277115.2(DNAH11):c.10963T>C (p.Leu3655=) rs1348999489
NM_001277115.2(DNAH11):c.10966C>T (p.Arg3656Cys)
NM_001277115.2(DNAH11):c.10976C>A (p.Ala3659Glu)
NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu) rs1220335751
NM_001277115.2(DNAH11):c.10995G>A (p.Leu3665=) rs1237672981
NM_001277115.2(DNAH11):c.10995G>C (p.Leu3665=)
NM_001277115.2(DNAH11):c.11003C>T (p.Thr3668Ile)
NM_001277115.2(DNAH11):c.11007A>G (p.Lys3669=)
NM_001277115.2(DNAH11):c.11010G>C (p.Leu3670=)
NM_001277115.2(DNAH11):c.11022G>A (p.Leu3674=)
NM_001277115.2(DNAH11):c.11026G>A (p.Ala3676Thr)
NM_001277115.2(DNAH11):c.11040C>G (p.Thr3680=)
NM_001277115.2(DNAH11):c.11040C>T (p.Thr3680=)
NM_001277115.2(DNAH11):c.11043G>A (p.Val3681=)
NM_001277115.2(DNAH11):c.1104C>T (p.Ile368=)
NM_001277115.2(DNAH11):c.11061+20C>T
NM_001277115.2(DNAH11):c.11062-10C>T
NM_001277115.2(DNAH11):c.11062-13G>C
NM_001277115.2(DNAH11):c.11062-4A>G
NM_001277115.2(DNAH11):c.11085A>G (p.Glu3695=)
NM_001277115.2(DNAH11):c.1108C>T (p.Leu370=)
NM_001277115.2(DNAH11):c.11094C>A (p.Ile3698=)
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
NM_001277115.2(DNAH11):c.11097C>T (p.Asn3699=)
NM_001277115.2(DNAH11):c.11098G>A (p.Glu3700Lys)
NM_001277115.2(DNAH11):c.11104C>A (p.Arg3702=)
NM_001277115.2(DNAH11):c.11136A>T (p.Ala3712=)
NM_001277115.2(DNAH11):c.1113C>T (p.Ile371=) rs764398699
NM_001277115.2(DNAH11):c.11157T>A (p.Ile3719=)
NM_001277115.2(DNAH11):c.11172A>G (p.Lys3724=)
NM_001277115.2(DNAH11):c.11179C>T (p.Pro3727Ser)
NM_001277115.2(DNAH11):c.11181C>T (p.Pro3727=)
NM_001277115.2(DNAH11):c.11196T>C (p.Ser3732=)
NM_001277115.2(DNAH11):c.1119T>C (p.Ser373=) rs1157040937
NM_001277115.2(DNAH11):c.11202+20G>C
NM_001277115.2(DNAH11):c.11202+7C>A rs73279826
NM_001277115.2(DNAH11):c.11202+7C>G
NM_001277115.2(DNAH11):c.11202+7_11202+9del
NM_001277115.2(DNAH11):c.11203-12T>C
NM_001277115.2(DNAH11):c.11203-14A>G
NM_001277115.2(DNAH11):c.11203-20G>A
NM_001277115.2(DNAH11):c.11203-6T>C
NM_001277115.2(DNAH11):c.11212G>A (p.Val3738Met)
NM_001277115.2(DNAH11):c.11229G>T (p.Ala3743=)
NM_001277115.2(DNAH11):c.11232C>T (p.Ile3744=)
NM_001277115.2(DNAH11):c.11241T>C (p.Ala3747=)
NM_001277115.2(DNAH11):c.11270T>A (p.Ile3757Asn)
NM_001277115.2(DNAH11):c.11280G>A (p.Leu3760=)
NM_001277115.2(DNAH11):c.11289C>T (p.Ser3763=)
NM_001277115.2(DNAH11):c.11295C>G (p.Thr3765=)
NM_001277115.2(DNAH11):c.11304C>G (p.Val3768=)
NM_001277115.2(DNAH11):c.11307C>T (p.Phe3769=)
NM_001277115.2(DNAH11):c.11313C>T (p.Tyr3771=) rs760594586
NM_001277115.2(DNAH11):c.11316C>T (p.Thr3772=) rs2128030845
NM_001277115.2(DNAH11):c.11324C>T (p.Ala3775Val)
NM_001277115.2(DNAH11):c.11337G>A (p.Lys3779=)
NM_001277115.2(DNAH11):c.11352C>T (p.Phe3784=)
NM_001277115.2(DNAH11):c.11358C>T (p.Ser3786=)
NM_001277115.2(DNAH11):c.11367T>C (p.Ala3789=)
NM_001277115.2(DNAH11):c.11373+11C>T
NM_001277115.2(DNAH11):c.11373+16A>G
NM_001277115.2(DNAH11):c.11373+6_11373+8del
NM_001277115.2(DNAH11):c.11373+7A>T
NM_001277115.2(DNAH11):c.11374-10T>C
NM_001277115.2(DNAH11):c.11374-11C>G
NM_001277115.2(DNAH11):c.11374-4C>G
NM_001277115.2(DNAH11):c.11376T>C (p.Ile3792=)
NM_001277115.2(DNAH11):c.11379G>A (p.Leu3793=)
NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)
NM_001277115.2(DNAH11):c.11385A>G (p.Arg3795=)
NM_001277115.2(DNAH11):c.11389A>G (p.Lys3797Glu)
NM_001277115.2(DNAH11):c.11391A>G (p.Lys3797=)
NM_001277115.2(DNAH11):c.11399A>G (p.Asp3800Gly)
NM_001277115.2(DNAH11):c.11404C>G (p.Leu3802Val)
NM_001277115.2(DNAH11):c.11410T>C (p.Leu3804=) rs760818521
NM_001277115.2(DNAH11):c.11437G>C (p.Glu3813Gln)
NM_001277115.2(DNAH11):c.11448T>C (p.His3816=)
NM_001277115.2(DNAH11):c.11449C>T (p.Leu3817=) rs902179397
NM_001277115.2(DNAH11):c.11454T>C (p.Ser3818=)
NM_001277115.2(DNAH11):c.11469A>C (p.Leu3823=)
NM_001277115.2(DNAH11):c.11496+13T>A
NM_001277115.2(DNAH11):c.11496+15C>T
NM_001277115.2(DNAH11):c.11496+15_11496+16del
NM_001277115.2(DNAH11):c.11496+16A>G
NM_001277115.2(DNAH11):c.11496+20T>C
NM_001277115.2(DNAH11):c.11496+7T>G
NM_001277115.2(DNAH11):c.11496+9G>A
NM_001277115.2(DNAH11):c.11497-12A>G
NM_001277115.2(DNAH11):c.11497-16C>A
NM_001277115.2(DNAH11):c.11497-17T>G
NM_001277115.2(DNAH11):c.11497-20G>T
NM_001277115.2(DNAH11):c.11497-5T>C
NM_001277115.2(DNAH11):c.11497-7A>G
NM_001277115.2(DNAH11):c.11497-9A>G
NM_001277115.2(DNAH11):c.11499A>G (p.Ala3833=)
NM_001277115.2(DNAH11):c.1149G>A (p.Arg383=)
NM_001277115.2(DNAH11):c.11504C>T (p.Ala3835Val)
NM_001277115.2(DNAH11):c.11505C>T (p.Ala3835=)
NM_001277115.2(DNAH11):c.11508C>A (p.Val3836=)
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.11508C>T (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.11510T>A (p.Met3837Lys)
NM_001277115.2(DNAH11):c.11523A>G (p.Arg3841=)
NM_001277115.2(DNAH11):c.11529A>T (p.Ile3843=)
NM_001277115.2(DNAH11):c.1152T>A (p.Val384=) rs1162033530
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu) rs371438607
NM_001277115.2(DNAH11):c.1155A>T (p.Ile385=)
NM_001277115.2(DNAH11):c.11572G>A (p.Val3858Ile) rs769064243
NM_001277115.2(DNAH11):c.11580C>A (p.Ser3860=)
NM_001277115.2(DNAH11):c.11600A>C (p.Lys3867Thr)
NM_001277115.2(DNAH11):c.11602T>A (p.Leu3868Ile)
NM_001277115.2(DNAH11):c.11610A>G (p.Gln3870=)
NM_001277115.2(DNAH11):c.11619G>A (p.Lys3873=)
NM_001277115.2(DNAH11):c.11628T>C (p.Ser3876=)
NM_001277115.2(DNAH11):c.11631A>G (p.Leu3877=)
NM_001277115.2(DNAH11):c.11636A>C (p.Gln3879Pro)
NM_001277115.2(DNAH11):c.11643G>C (p.Leu3881=)
NM_001277115.2(DNAH11):c.11658A>C (p.Ala3886=)
NM_001277115.2(DNAH11):c.1165C>G (p.Gln389Glu)
NM_001277115.2(DNAH11):c.11674A>G (p.Met3892Val)
NM_001277115.2(DNAH11):c.11678C>A (p.Thr3893Lys)
NM_001277115.2(DNAH11):c.1167A>G (p.Gln389=)
NM_001277115.2(DNAH11):c.11685T>C (p.Ala3895=)
NM_001277115.2(DNAH11):c.1168G>A (p.Glu390Lys)
NM_001277115.2(DNAH11):c.11690+13G>T
NM_001277115.2(DNAH11):c.11690+14C>G
NM_001277115.2(DNAH11):c.11690+15A>G
NM_001277115.2(DNAH11):c.11690+9G>T
NM_001277115.2(DNAH11):c.11691-19A>T
NM_001277115.2(DNAH11):c.11691-6T>C rs2128034916
NM_001277115.2(DNAH11):c.11691-8T>C
NM_001277115.2(DNAH11):c.11706A>G (p.Glu3902=)
NM_001277115.2(DNAH11):c.11709A>G (p.Lys3903=)
NM_001277115.2(DNAH11):c.11710C>T (p.Leu3904=)
NM_001277115.2(DNAH11):c.11715T>C (p.Gly3905=)
NM_001277115.2(DNAH11):c.11718G>A (p.Ala3906=) rs755196801
NM_001277115.2(DNAH11):c.11718G>T (p.Ala3906=)
NM_001277115.2(DNAH11):c.11727G>A (p.Val3909=)
NM_001277115.2(DNAH11):c.11736C>A (p.Thr3912=)
NM_001277115.2(DNAH11):c.11748A>G (p.Leu3916=)
NM_001277115.2(DNAH11):c.11760C>T (p.Phe3920=)
NM_001277115.2(DNAH11):c.11767A>G (p.Ser3923Gly)
NM_001277115.2(DNAH11):c.11782C>A (p.Pro3928Thr)
NM_001277115.2(DNAH11):c.11811A>C (p.Val3937=) rs1288573843
NM_001277115.2(DNAH11):c.11826C>T (p.Asp3942=)
NM_001277115.2(DNAH11):c.11839+15G>A
NM_001277115.2(DNAH11):c.11839+16G>T
NM_001277115.2(DNAH11):c.11839+17C>T
NM_001277115.2(DNAH11):c.11839+19C>G
NM_001277115.2(DNAH11):c.11839+19C>T
NM_001277115.2(DNAH11):c.11839+20G>A
NM_001277115.2(DNAH11):c.11839+20G>C
NM_001277115.2(DNAH11):c.11839+8G>C
NM_001277115.2(DNAH11):c.11839+9del
NM_001277115.2(DNAH11):c.11840-19G>A
NM_001277115.2(DNAH11):c.11840-19G>T
NM_001277115.2(DNAH11):c.11840-7C>T
NM_001277115.2(DNAH11):c.11840-9C>G
NM_001277115.2(DNAH11):c.11844A>T (p.Lys3948Asn)
NM_001277115.2(DNAH11):c.11850T>G (p.Leu3950=)
NM_001277115.2(DNAH11):c.11870G>C (p.Gly3957Ala)
NM_001277115.2(DNAH11):c.11889T>C (p.Ser3963=) rs2128035701
NM_001277115.2(DNAH11):c.11898A>G (p.Gln3966=)
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
NM_001277115.2(DNAH11):c.11906A>G (p.Glu3969Gly) rs1273080022
NM_001277115.2(DNAH11):c.11910G>A (p.Thr3970=)
NM_001277115.2(DNAH11):c.11910G>C (p.Thr3970=)
NM_001277115.2(DNAH11):c.11911G>A (p.Val3971Met)
NM_001277115.2(DNAH11):c.11924C>T (p.Ala3975Val) rs374560534
NM_001277115.2(DNAH11):c.11928G>A (p.Leu3976=)
NM_001277115.2(DNAH11):c.11931G>A (p.Glu3977=)
NM_001277115.2(DNAH11):c.11934A>G (p.Lys3978=)
NM_001277115.2(DNAH11):c.1194+11T>C
NM_001277115.2(DNAH11):c.1194+8G>A
NM_001277115.2(DNAH11):c.1194+9C>T
NM_001277115.2(DNAH11):c.1195-12A>G
NM_001277115.2(DNAH11):c.1195-12A>T
NM_001277115.2(DNAH11):c.1195-17C>A
NM_001277115.2(DNAH11):c.1195-17C>G
NM_001277115.2(DNAH11):c.1195-18C>T
NM_001277115.2(DNAH11):c.1195-19C>A
NM_001277115.2(DNAH11):c.1195-19C>G
NM_001277115.2(DNAH11):c.1195-5C>T
NM_001277115.2(DNAH11):c.1195-6T>C
NM_001277115.2(DNAH11):c.11952C>T (p.His3984=)
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
NM_001277115.2(DNAH11):c.11967+16C>T
NM_001277115.2(DNAH11):c.11967+19G>C
NM_001277115.2(DNAH11):c.11967+20G>T
NM_001277115.2(DNAH11):c.11967+8T>A
NM_001277115.2(DNAH11):c.11968-17A>T
NM_001277115.2(DNAH11):c.11968-18C>A rs182921787
NM_001277115.2(DNAH11):c.11968-9A>G
NM_001277115.2(DNAH11):c.1197A>C (p.Ala399=)
NM_001277115.2(DNAH11):c.1197A>G (p.Ala399=)
NM_001277115.2(DNAH11):c.11985C>G (p.Ala3995=)
NM_001277115.2(DNAH11):c.11988G>A (p.Lys3996=)
NM_001277115.2(DNAH11):c.11996G>C (p.Gly3999Ala)
NM_001277115.2(DNAH11):c.12018A>G (p.Glu4006=)
NM_001277115.2(DNAH11):c.12020G>C (p.Arg4007Thr)
NM_001277115.2(DNAH11):c.12026G>C (p.Ser4009Thr)
NM_001277115.2(DNAH11):c.12027C>T (p.Ser4009=)
NM_001277115.2(DNAH11):c.12046T>C (p.Tyr4016His)
NM_001277115.2(DNAH11):c.12048C>T (p.Tyr4016=)
NM_001277115.2(DNAH11):c.12066T>G (p.Ala4022=)
NM_001277115.2(DNAH11):c.12069G>A (p.Glu4023=)
NM_001277115.2(DNAH11):c.12075A>G (p.Ala4025=)
NM_001277115.2(DNAH11):c.1207C>G (p.Leu403Val)
NM_001277115.2(DNAH11):c.12080C>T (p.Thr4027Ile)
NM_001277115.2(DNAH11):c.12092A>G (p.His4031Arg)
NM_001277115.2(DNAH11):c.12096C>A (p.Ile4032=)
NM_001277115.2(DNAH11):c.12116A>C (p.Glu4039Ala)
NM_001277115.2(DNAH11):c.1211C>T (p.Ser404Leu)
NM_001277115.2(DNAH11):c.12123C>T (p.Ser4041=)
NM_001277115.2(DNAH11):c.12132C>A (p.Ile4044=)
NM_001277115.2(DNAH11):c.12135T>C (p.Thr4045=)
NM_001277115.2(DNAH11):c.12141A>T (p.Glu4047Asp)
NM_001277115.2(DNAH11):c.12153G>C (p.Gly4051=)
NM_001277115.2(DNAH11):c.12157C>T (p.Leu4053=)
NM_001277115.2(DNAH11):c.12158T>C (p.Leu4053Pro)
NM_001277115.2(DNAH11):c.12159G>A (p.Leu4053=)
NM_001277115.2(DNAH11):c.12159G>T (p.Leu4053=)
NM_001277115.2(DNAH11):c.1215T>C (p.Pro405=)
NM_001277115.2(DNAH11):c.12168G>A (p.Leu4056=)
NM_001277115.2(DNAH11):c.12171T>C (p.His4057=)
NM_001277115.2(DNAH11):c.12173C>T (p.Ala4058Val)
NM_001277115.2(DNAH11):c.12177C>G (p.Ala4059=)
NM_001277115.2(DNAH11):c.12180G>A (p.Leu4060=)
NM_001277115.2(DNAH11):c.12195+10C>A
NM_001277115.2(DNAH11):c.12195+10C>G
NM_001277115.2(DNAH11):c.12195+18G>C
NM_001277115.2(DNAH11):c.12196-12C>T
NM_001277115.2(DNAH11):c.12196-14C>T
NM_001277115.2(DNAH11):c.12196-17C>G
NM_001277115.2(DNAH11):c.12196-6T>C
NM_001277115.2(DNAH11):c.12208A>G (p.Ile4070Val)
NM_001277115.2(DNAH11):c.12216C>T (p.Ser4072=)
NM_001277115.2(DNAH11):c.1221C>T (p.Asp407=)
NM_001277115.2(DNAH11):c.12222G>A (p.Glu4074=)
NM_001277115.2(DNAH11):c.12234A>G (p.Lys4078=)
NM_001277115.2(DNAH11):c.12240C>T (p.Ile4080=)
NM_001277115.2(DNAH11):c.12249T>C (p.Ser4083=)
NM_001277115.2(DNAH11):c.12252C>G (p.Leu4084=)
NM_001277115.2(DNAH11):c.12255C>G (p.Cys4085Trp)
NM_001277115.2(DNAH11):c.12267C>G (p.Ala4089=)
NM_001277115.2(DNAH11):c.12267C>T (p.Ala4089=) rs779248595
NM_001277115.2(DNAH11):c.12269G>T (p.Cys4090Phe) rs1258273877
NM_001277115.2(DNAH11):c.12273T>A (p.Val4091=)
NM_001277115.2(DNAH11):c.1227G>A (p.Leu409=)
NM_001277115.2(DNAH11):c.12294C>T (p.Gly4098=)
NM_001277115.2(DNAH11):c.1230G>A (p.Arg410=)
NM_001277115.2(DNAH11):c.12319C>G (p.Pro4107Ala)
NM_001277115.2(DNAH11):c.12333A>G (p.Gly4111=) rs2128042289
NM_001277115.2(DNAH11):c.12334G>C (p.Asp4112His)
NM_001277115.2(DNAH11):c.12339C>T (p.Leu4113=)
NM_001277115.2(DNAH11):c.1233A>C (p.Gly411=)
NM_001277115.2(DNAH11):c.12361T>C (p.Tyr4121His)
NM_001277115.2(DNAH11):c.1236A>G (p.Glu412=)
NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)
NM_001277115.2(DNAH11):c.12375G>A (p.Glu4125=)
NM_001277115.2(DNAH11):c.12387+18A>C
NM_001277115.2(DNAH11):c.12387+18A>G
NM_001277115.2(DNAH11):c.12387+7G>A
NM_001277115.2(DNAH11):c.12387+8C>G
NM_001277115.2(DNAH11):c.12388-12T>C
NM_001277115.2(DNAH11):c.12388-15T>C
NM_001277115.2(DNAH11):c.12388-20T>G
NM_001277115.2(DNAH11):c.12388-4A>G rs758561213
NM_001277115.2(DNAH11):c.12388-5C>T
NM_001277115.2(DNAH11):c.12393A>G (p.Pro4131=)
NM_001277115.2(DNAH11):c.1240G>C (p.Glu414Gln)
NM_001277115.2(DNAH11):c.12432T>C (p.Tyr4144=)
NM_001277115.2(DNAH11):c.12441C>T (p.His4147=)
NM_001277115.2(DNAH11):c.12447A>C (p.Thr4149=)
NM_001277115.2(DNAH11):c.12465A>G (p.Lys4155=)
NM_001277115.2(DNAH11):c.12474G>A (p.Arg4158=)
NM_001277115.2(DNAH11):c.12477G>A (p.Val4159=)
NM_001277115.2(DNAH11):c.12492C>T (p.Phe4164=)
NM_001277115.2(DNAH11):c.12492_12493inv (p.Met4165Val)
NM_001277115.2(DNAH11):c.1249C>T (p.Leu417=)
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=) rs764262245
NM_001277115.2(DNAH11):c.12507+12G>T
NM_001277115.2(DNAH11):c.12507+14A>C
NM_001277115.2(DNAH11):c.12507+16A>T
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser) rs12537531
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.12572A>T (p.Tyr4191Phe)
NM_001277115.2(DNAH11):c.12600T>A (p.Pro4200=)
NM_001277115.2(DNAH11):c.12609C>T (p.Ser4203=)
NM_001277115.2(DNAH11):c.1260G>T (p.Val420=)
NM_001277115.2(DNAH11):c.12612G>A (p.Pro4204=) rs73683005
NM_001277115.2(DNAH11):c.12647A>T (p.Glu4216Val)
NM_001277115.2(DNAH11):c.12654G>C (p.Leu4218=)
NM_001277115.2(DNAH11):c.12659T>G (p.Val4220Gly)
NM_001277115.2(DNAH11):c.12666C>A (p.Ser4222=)
NM_001277115.2(DNAH11):c.12669C>T (p.Asn4223=) rs1554293255
NM_001277115.2(DNAH11):c.12681A>G (p.Arg4227=)
NM_001277115.2(DNAH11):c.12685T>C (p.Leu4229=)
NM_001277115.2(DNAH11):c.12692A>C (p.Glu4231Ala)
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=) rs775042712
NM_001277115.2(DNAH11):c.12710C>T (p.Ala4237Val)
NM_001277115.2(DNAH11):c.12711A>C (p.Ala4237=) rs763598195
NM_001277115.2(DNAH11):c.12714C>T (p.Leu4238=) rs1784366071
NM_001277115.2(DNAH11):c.12735G>T (p.Gln4245His)
NM_001277115.2(DNAH11):c.12737C>G (p.Ser4246Cys)
NM_001277115.2(DNAH11):c.12750+13T>C
NM_001277115.2(DNAH11):c.12750+16T>C
NM_001277115.2(DNAH11):c.12750+8G>A
NM_001277115.2(DNAH11):c.12751-11A>G
NM_001277115.2(DNAH11):c.12751-14G>C
NM_001277115.2(DNAH11):c.12751-14_12751-13del
NM_001277115.2(DNAH11):c.12751-19T>G
NM_001277115.2(DNAH11):c.12757A>G (p.Asn4253Asp)
NM_001277115.2(DNAH11):c.12775T>C (p.Leu4259=)
NM_001277115.2(DNAH11):c.12778G>A (p.Glu4260Lys)
NM_001277115.2(DNAH11):c.12785T>C (p.Leu4262Pro)
NM_001277115.2(DNAH11):c.1278C>T (p.Ile426=)
NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile)
NM_001277115.2(DNAH11):c.12810G>A (p.Glu4270=)
NM_001277115.2(DNAH11):c.12811A>C (p.Ile4271Leu)
NM_001277115.2(DNAH11):c.12830A>G (p.Asn4277Ser)
NM_001277115.2(DNAH11):c.12837C>T (p.Ser4279=)
NM_001277115.2(DNAH11):c.12840A>C (p.Pro4280=)
NM_001277115.2(DNAH11):c.12840A>G (p.Pro4280=)
NM_001277115.2(DNAH11):c.12840A>T (p.Pro4280=) rs765016952
NM_001277115.2(DNAH11):c.1286C>T (p.Thr429Ile)
NM_001277115.2(DNAH11):c.12885C>T (p.Leu4295=)
NM_001277115.2(DNAH11):c.12892G>A (p.Glu4298Lys)
NM_001277115.2(DNAH11):c.12903A>T (p.Ile4301=)
NM_001277115.2(DNAH11):c.1290C>G (p.Phe430Leu)
NM_001277115.2(DNAH11):c.1290C>T (p.Phe430=) rs765276431
NM_001277115.2(DNAH11):c.12921C>T (p.Asp4307=)
NM_001277115.2(DNAH11):c.12933+10A>C
NM_001277115.2(DNAH11):c.12933+11_12933+12del
NM_001277115.2(DNAH11):c.12933+12G>A
NM_001277115.2(DNAH11):c.12933+14G>A
NM_001277115.2(DNAH11):c.12933+14G>T
NM_001277115.2(DNAH11):c.12933+16G>T
NM_001277115.2(DNAH11):c.12933+17G>T
NM_001277115.2(DNAH11):c.12933+18C>G
NM_001277115.2(DNAH11):c.12933+20A>G
NM_001277115.2(DNAH11):c.12934-5G>C
NM_001277115.2(DNAH11):c.12934-5G>T
NM_001277115.2(DNAH11):c.12934-7A>G
NM_001277115.2(DNAH11):c.1293A>C (p.Lys431Asn)
NM_001277115.2(DNAH11):c.12940T>C (p.Leu4314=)
NM_001277115.2(DNAH11):c.12942G>A (p.Leu4314=)
NM_001277115.2(DNAH11):c.12945A>G (p.Ala4315=)
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
NM_001277115.2(DNAH11):c.13005T>C (p.Thr4335=)
NM_001277115.2(DNAH11):c.13016T>C (p.Leu4339Pro)
NM_001277115.2(DNAH11):c.13017G>C (p.Leu4339=)
NM_001277115.2(DNAH11):c.13041A>G (p.Leu4347=)
NM_001277115.2(DNAH11):c.13049+13A>C
NM_001277115.2(DNAH11):c.13049+15C>G
NM_001277115.2(DNAH11):c.13049+18C>G
NM_001277115.2(DNAH11):c.13049+19A>C
NM_001277115.2(DNAH11):c.13049+20C>T
NM_001277115.2(DNAH11):c.13050-13T>G
NM_001277115.2(DNAH11):c.13050-14C>T
NM_001277115.2(DNAH11):c.13050-18C>A
NM_001277115.2(DNAH11):c.13050-18C>T
NM_001277115.2(DNAH11):c.13050-19C>T rs2128051752
NM_001277115.2(DNAH11):c.13050-4C>T
NM_001277115.2(DNAH11):c.13050-9A>G
NM_001277115.2(DNAH11):c.13050-9A>T
NM_001277115.2(DNAH11):c.13053C>T (p.Phe4351=)
NM_001277115.2(DNAH11):c.13055A>G (p.Asn4352Ser)
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=)
NM_001277115.2(DNAH11):c.13098A>G (p.Gln4366=)
NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile)
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13113G>C (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13113G>T (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.13115C>T (p.Ala4372Val)
NM_001277115.2(DNAH11):c.13119C>A (p.Val4373=)
NM_001277115.2(DNAH11):c.13119C>T (p.Val4373=)
NM_001277115.2(DNAH11):c.1311T>C (p.Tyr437=)
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
NM_001277115.2(DNAH11):c.13122G>A (p.Val4374=)
NM_001277115.2(DNAH11):c.13122G>T (p.Val4374=)
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.13128C>G (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.13128C>T (p.Leu4376=)
NM_001277115.2(DNAH11):c.13131C>T (p.Ser4377=)
NM_001277115.2(DNAH11):c.13134C>T (p.Gly4378=)
NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr)
NM_001277115.2(DNAH11):c.13155C>T (p.Phe4385=)
NM_001277115.2(DNAH11):c.13162+12C>G
NM_001277115.2(DNAH11):c.13162+13G>A
NM_001277115.2(DNAH11):c.13162+14C>T
NM_001277115.2(DNAH11):c.13162+18G>A
NM_001277115.2(DNAH11):c.13162+18_13162+22dup
NM_001277115.2(DNAH11):c.13162+19C>T
NM_001277115.2(DNAH11):c.13162+8C>G
NM_001277115.2(DNAH11):c.13162+8C>T
NM_001277115.2(DNAH11):c.13163-11T>A
NM_001277115.2(DNAH11):c.13163-11T>C
NM_001277115.2(DNAH11):c.13163-12A>G
NM_001277115.2(DNAH11):c.13163-12A>T
NM_001277115.2(DNAH11):c.13163-13TA[3]
NM_001277115.2(DNAH11):c.13163-15dup
NM_001277115.2(DNAH11):c.13163-17_13163-7del
NM_001277115.2(DNAH11):c.13163-21_13163-10del
NM_001277115.2(DNAH11):c.13163-5C>T
NM_001277115.2(DNAH11):c.13163-6C>T
NM_001277115.2(DNAH11):c.13175C>G (p.Thr4392Arg)
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.13176G>T (p.Thr4392=)
NM_001277115.2(DNAH11):c.13183C>A (p.Arg4395=) rs757784023
NM_001277115.2(DNAH11):c.13184G>T (p.Arg4395Leu) rs368249392
NM_001277115.2(DNAH11):c.13206T>A (p.Asp4402Glu)
NM_001277115.2(DNAH11):c.13212G>C (p.Thr4404=)
NM_001277115.2(DNAH11):c.13216T>G (p.Leu4406Val)
NM_001277115.2(DNAH11):c.13227T>C (p.Asp4409=)
NM_001277115.2(DNAH11):c.13229T>C (p.Val4410Ala)
NM_001277115.2(DNAH11):c.13233C>G (p.Thr4411=)
NM_001277115.2(DNAH11):c.13239A>G (p.Lys4413=)
NM_001277115.2(DNAH11):c.13246G>A (p.Glu4416Lys)
NM_001277115.2(DNAH11):c.13263G>A (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr)
NM_001277115.2(DNAH11):c.13296C>T (p.Phe4432=)
NM_001277115.2(DNAH11):c.13303+11_13303+12dup
NM_001277115.2(DNAH11):c.13303+12C>T
NM_001277115.2(DNAH11):c.13303+16G>T
NM_001277115.2(DNAH11):c.13303+20_13303+23dup
NM_001277115.2(DNAH11):c.13303+7C>T
NM_001277115.2(DNAH11):c.13303+9C>T
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
NM_001277115.2(DNAH11):c.1335T>C (p.Phe445=)
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=) rs759644499
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
NM_001277115.2(DNAH11):c.1339G>A (p.Gly447Arg)
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=) rs1489261617
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
NM_001277115.2(DNAH11):c.1354C>T (p.Pro452Ser)
NM_001277115.2(DNAH11):c.1366C>G (p.Gln456Glu)
NM_001277115.2(DNAH11):c.1371T>G (p.Ser457=)
NM_001277115.2(DNAH11):c.1377G>C (p.Leu459=)
NM_001277115.2(DNAH11):c.1378G>A (p.Val460Met)
NM_001277115.2(DNAH11):c.1383T>C (p.Phe461=)
NM_001277115.2(DNAH11):c.1384T>C (p.Cys462Arg)
NM_001277115.2(DNAH11):c.1401T>C (p.Phe467=)
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
NM_001277115.2(DNAH11):c.1415T>C (p.Ile472Thr)
NM_001277115.2(DNAH11):c.1425+12T>C
NM_001277115.2(DNAH11):c.1425+14G>A
NM_001277115.2(DNAH11):c.1425+14G>T
NM_001277115.2(DNAH11):c.1425+19T>G
NM_001277115.2(DNAH11):c.1425+23_1425+26del
NM_001277115.2(DNAH11):c.1425+7_1425+8del
NM_001277115.2(DNAH11):c.1426-15G>A
NM_001277115.2(DNAH11):c.1426-16T>C
NM_001277115.2(DNAH11):c.1426-19T>C
NM_001277115.2(DNAH11):c.1429A>G (p.Ile477Val)
NM_001277115.2(DNAH11):c.1434T>C (p.Phe478=)
NM_001277115.2(DNAH11):c.1438A>G (p.Thr480Ala) rs763939941
NM_001277115.2(DNAH11):c.1451T>C (p.Phe484Ser)
NM_001277115.2(DNAH11):c.1456A>G (p.Lys486Glu)
NM_001277115.2(DNAH11):c.1469T>A (p.Leu490Gln)
NM_001277115.2(DNAH11):c.1479T>C (p.Gly493=)
NM_001277115.2(DNAH11):c.1498T>C (p.Leu500=)
NM_001277115.2(DNAH11):c.1512C>A (p.Val504=)
NM_001277115.2(DNAH11):c.1516G>A (p.Glu506Lys) rs760400011
NM_001277115.2(DNAH11):c.1533T>G (p.Leu511=)
NM_001277115.2(DNAH11):c.1550T>A (p.Leu517His)
NM_001277115.2(DNAH11):c.1569T>C (p.Tyr523=)
NM_001277115.2(DNAH11):c.1572C>G (p.Asp524Glu)
NM_001277115.2(DNAH11):c.1581T>C (p.Asp527=)
NM_001277115.2(DNAH11):c.1584C>T (p.Cys528=)
NM_001277115.2(DNAH11):c.1593+11_1593+16dup
NM_001277115.2(DNAH11):c.1593+12C>T
NM_001277115.2(DNAH11):c.1593+17G>A
NM_001277115.2(DNAH11):c.1593+9G>T
NM_001277115.2(DNAH11):c.1594-16A>T
NM_001277115.2(DNAH11):c.1594-20T>C
NM_001277115.2(DNAH11):c.1618T>C (p.Phe540Leu)
NM_001277115.2(DNAH11):c.1623G>A (p.Lys541=)
NM_001277115.2(DNAH11):c.1631C>T (p.Thr544Ile)
NM_001277115.2(DNAH11):c.1643A>G (p.Asp548Gly)
NM_001277115.2(DNAH11):c.1650G>C (p.Arg550Ser)
NM_001277115.2(DNAH11):c.1653T>C (p.Leu551=)
NM_001277115.2(DNAH11):c.1664T>C (p.Ile555Thr)
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
NM_001277115.2(DNAH11):c.1674T>A (p.Ala558=)
NM_001277115.2(DNAH11):c.1689T>C (p.Asn563=)
NM_001277115.2(DNAH11):c.1692C>G (p.Gly564=)
NM_001277115.2(DNAH11):c.1710+16G>C
NM_001277115.2(DNAH11):c.1710+19A>G
NM_001277115.2(DNAH11):c.1710+20T>C
NM_001277115.2(DNAH11):c.1711-16A>G
NM_001277115.2(DNAH11):c.1711-20C>G
NM_001277115.2(DNAH11):c.1711-5T>C
NM_001277115.2(DNAH11):c.1737A>G (p.Leu579=)
NM_001277115.2(DNAH11):c.174G>A (p.Arg58=)
NM_001277115.2(DNAH11):c.175G>A (p.Val59Met)
NM_001277115.2(DNAH11):c.1764C>T (p.Phe588=)
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
NM_001277115.2(DNAH11):c.1800T>C (p.Asn600=)
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=) rs781089233
NM_001277115.2(DNAH11):c.1817G>A (p.Cys606Tyr)
NM_001277115.2(DNAH11):c.1848+11G>A
NM_001277115.2(DNAH11):c.1848+16G>A
NM_001277115.2(DNAH11):c.1848+17G>T
NM_001277115.2(DNAH11):c.1848+20G>A
NM_001277115.2(DNAH11):c.1849-11T>C
NM_001277115.2(DNAH11):c.1849-12A>T
NM_001277115.2(DNAH11):c.1849-7C>T
NM_001277115.2(DNAH11):c.1860T>G (p.Gly620=)
NM_001277115.2(DNAH11):c.186C>T (p.Leu62=)
NM_001277115.2(DNAH11):c.1903A>G (p.Met635Val)
NM_001277115.2(DNAH11):c.1908A>G (p.Lys636=)
NM_001277115.2(DNAH11):c.1913C>A (p.Ala638Asp)
NM_001277115.2(DNAH11):c.1915_1916inv (p.Gln639Trp)
NM_001277115.2(DNAH11):c.1916_1917delinsGT (p.Gln639Arg)
NM_001277115.2(DNAH11):c.1917G>T (p.Gln639His)
NM_001277115.2(DNAH11):c.1930C>A (p.Arg644=)
NM_001277115.2(DNAH11):c.1935T>C (p.Leu645=)
NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu)
NM_001277115.2(DNAH11):c.1973+18G>A
NM_001277115.2(DNAH11):c.1973+19G>C
NM_001277115.2(DNAH11):c.1973+7A>G
NM_001277115.2(DNAH11):c.1974-24_1974-13del
NM_001277115.2(DNAH11):c.1974-5T>C
NM_001277115.2(DNAH11):c.1974-7C>T
NM_001277115.2(DNAH11):c.1986T>C (p.Asn662=)
NM_001277115.2(DNAH11):c.1988C>T (p.Pro663Leu)
NM_001277115.2(DNAH11):c.1993C>G (p.His665Asp)
NM_001277115.2(DNAH11):c.1996G>T (p.Ala666Ser)
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)
NM_001277115.2(DNAH11):c.201G>A (p.Ala67=)
NM_001277115.2(DNAH11):c.2028C>T (p.Thr676=)
NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys)
NM_001277115.2(DNAH11):c.2055T>C (p.Arg685=)
NM_001277115.2(DNAH11):c.2064T>C (p.Asn688=)
NM_001277115.2(DNAH11):c.2067A>G (p.Glu689=)
NM_001277115.2(DNAH11):c.2099T>C (p.Phe700Ser)
NM_001277115.2(DNAH11):c.2112A>C (p.Gln704His)
NM_001277115.2(DNAH11):c.2127C>T (p.Phe709=)
NM_001277115.2(DNAH11):c.2139T>C (p.Asn713=)
NM_001277115.2(DNAH11):c.2142T>C (p.Gly714=)
NM_001277115.2(DNAH11):c.2148C>G (p.Leu716=)
NM_001277115.2(DNAH11):c.2169+12A>T
NM_001277115.2(DNAH11):c.2169+18T>A
NM_001277115.2(DNAH11):c.2169+18T>C
NM_001277115.2(DNAH11):c.216C>T (p.Phe72=)
NM_001277115.2(DNAH11):c.2170-13T>G
NM_001277115.2(DNAH11):c.2170-16A>G
NM_001277115.2(DNAH11):c.2170-6T>C
NM_001277115.2(DNAH11):c.2199T>C (p.Tyr733=) rs2128443515
NM_001277115.2(DNAH11):c.219G>A (p.Thr73=)
NM_001277115.2(DNAH11):c.2202T>C (p.Leu734=)
NM_001277115.2(DNAH11):c.2209T>C (p.Leu737=)
NM_001277115.2(DNAH11):c.2229A>G (p.Pro743=)
NM_001277115.2(DNAH11):c.2244C>G (p.Ala748=)
NM_001277115.2(DNAH11):c.2244C>T (p.Ala748=)
NM_001277115.2(DNAH11):c.2247C>T (p.Ile749=)
NM_001277115.2(DNAH11):c.2252A>G (p.Lys751Arg)
NM_001277115.2(DNAH11):c.2274+10T>G
NM_001277115.2(DNAH11):c.2274+17A>T
NM_001277115.2(DNAH11):c.2274+20A>T
NM_001277115.2(DNAH11):c.2274+20_2274+24del
NM_001277115.2(DNAH11):c.2274+7G>A rs1784656226
NM_001277115.2(DNAH11):c.2274+8A>G
NM_001277115.2(DNAH11):c.2275-10_2275-8del
NM_001277115.2(DNAH11):c.2275-20T>G
NM_001277115.2(DNAH11):c.2275-5C>G
NM_001277115.2(DNAH11):c.2277C>T (p.Tyr759=)
NM_001277115.2(DNAH11):c.2280T>C (p.Ile760=)
NM_001277115.2(DNAH11):c.2298T>C (p.Leu766=)
NM_001277115.2(DNAH11):c.2308T>C (p.Tyr770His)
NM_001277115.2(DNAH11):c.2313T>C (p.Asn771=)
NM_001277115.2(DNAH11):c.2313T>G (p.Asn771Lys)
NM_001277115.2(DNAH11):c.2317C>T (p.Leu773Phe)
NM_001277115.2(DNAH11):c.2328G>T (p.Thr776=)
NM_001277115.2(DNAH11):c.2331C>T (p.Leu777=)
NM_001277115.2(DNAH11):c.233G>A (p.Ser78Asn)
NM_001277115.2(DNAH11):c.2352G>A (p.Leu784=)
NM_001277115.2(DNAH11):c.2355T>C (p.Ile785=)
NM_001277115.2(DNAH11):c.2364G>A (p.Glu788=)
NM_001277115.2(DNAH11):c.2364G>T (p.Glu788Asp)
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu) rs762314534
NM_001277115.2(DNAH11):c.2374A>G (p.Ile792Val) rs762314534
NM_001277115.2(DNAH11):c.237G>A (p.Gln79=)
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=) rs771017427
NM_001277115.2(DNAH11):c.2388G>C (p.Leu796=)
NM_001277115.2(DNAH11):c.2390C>G (p.Thr797Arg)
NM_001277115.2(DNAH11):c.240T>C (p.Tyr80=)
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=) rs564401238
NM_001277115.2(DNAH11):c.2435A>T (p.Tyr812Phe)
NM_001277115.2(DNAH11):c.2439C>A (p.Ile813=)
NM_001277115.2(DNAH11):c.2440G>C (p.Glu814Gln)
NM_001277115.2(DNAH11):c.2451G>A (p.Arg817=)
NM_001277115.2(DNAH11):c.2454A>C (p.Ala818=)
NM_001277115.2(DNAH11):c.2460G>A (p.Thr820=)
NM_001277115.2(DNAH11):c.2498A>C (p.Asn833Thr)
NM_001277115.2(DNAH11):c.249C>T (p.Ser83=)
NM_001277115.2(DNAH11):c.24G>C (p.Arg8=)
NM_001277115.2(DNAH11):c.2502G>A (p.Val834=)
NM_001277115.2(DNAH11):c.2511C>T (p.Ile837=)
NM_001277115.2(DNAH11):c.2533G>A (p.Ala845Thr)
NM_001277115.2(DNAH11):c.2540G>A (p.Cys847Tyr)
NM_001277115.2(DNAH11):c.2540G>T (p.Cys847Phe)
NM_001277115.2(DNAH11):c.2552C>T (p.Pro851Leu)
NM_001277115.2(DNAH11):c.2564A>G (p.His855Arg) rs1467334392
NM_001277115.2(DNAH11):c.2593G>C (p.Asp865His)
NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu)
NM_001277115.2(DNAH11):c.2607G>A (p.Leu869=)
NM_001277115.2(DNAH11):c.2613A>C (p.Thr871=)
NM_001277115.2(DNAH11):c.2613A>T (p.Thr871=)
NM_001277115.2(DNAH11):c.2624A>C (p.Lys875Thr)
NM_001277115.2(DNAH11):c.2631C>A (p.Ile877=) rs1003575600
NM_001277115.2(DNAH11):c.2631C>G (p.Ile877Met)
NM_001277115.2(DNAH11):c.264G>A (p.Gln88=)
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
NM_001277115.2(DNAH11):c.2661G>A (p.Leu887=)
NM_001277115.2(DNAH11):c.2664C>G (p.Val888=)
NM_001277115.2(DNAH11):c.2667+8C>G
NM_001277115.2(DNAH11):c.2668-15C>T
NM_001277115.2(DNAH11):c.2685C>G (p.Phe895Leu)
NM_001277115.2(DNAH11):c.2694T>C (p.Asn898=) rs2128446539
NM_001277115.2(DNAH11):c.2703G>C (p.Leu901=)
NM_001277115.2(DNAH11):c.2706T>C (p.Asp902=)
NM_001277115.2(DNAH11):c.2714A>C (p.Lys905Thr)
NM_001277115.2(DNAH11):c.2721T>C (p.Tyr907=)
NM_001277115.2(DNAH11):c.2730C>T (p.Phe910=)
NM_001277115.2(DNAH11):c.2731A>G (p.Ile911Val)
NM_001277115.2(DNAH11):c.2739C>T (p.Asp913=)
NM_001277115.2(DNAH11):c.273G>T (p.Gly91=)
NM_001277115.2(DNAH11):c.2774A>T (p.His925Leu)
NM_001277115.2(DNAH11):c.2776G>A (p.Asp926Asn)
NM_001277115.2(DNAH11):c.2784C>T (p.Asp928=)
NM_001277115.2(DNAH11):c.2791C>T (p.Leu931=)
NM_001277115.2(DNAH11):c.2803G>A (p.Glu935Lys)
NM_001277115.2(DNAH11):c.280C>T (p.Leu94=)
NM_001277115.2(DNAH11):c.2813T>C (p.Leu938Ser)
NM_001277115.2(DNAH11):c.2820G>A (p.Pro940=)
NM_001277115.2(DNAH11):c.2820G>T (p.Pro940=) rs377575914
NM_001277115.2(DNAH11):c.2841A>G (p.Gln947=) rs1162778746
NM_001277115.2(DNAH11):c.2847C>T (p.Ile949=)
NM_001277115.2(DNAH11):c.2848T>C (p.Leu950=)
NM_001277115.2(DNAH11):c.2855C>T (p.Pro952Leu)
NM_001277115.2(DNAH11):c.2880C>T (p.Ser960=)
NM_001277115.2(DNAH11):c.288C>T (p.Ser96=) rs576486289
NM_001277115.2(DNAH11):c.2907C>T (p.Phe969=) rs777691425
NM_001277115.2(DNAH11):c.2919A>G (p.Val973=)
NM_001277115.2(DNAH11):c.2921A>G (p.Glu974Gly)
NM_001277115.2(DNAH11):c.2926A>G (p.Met976Val)
NM_001277115.2(DNAH11):c.2943T>C (p.Phe981=) rs2128446686
NM_001277115.2(DNAH11):c.295C>G (p.Pro99Ala)
NM_001277115.2(DNAH11):c.2964C>T (p.Asn988=)
NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)
NM_001277115.2(DNAH11):c.2974A>G (p.Thr992Ala)
NM_001277115.2(DNAH11):c.297G>A (p.Pro99=)
NM_001277115.2(DNAH11):c.297G>T (p.Pro99=) rs886038461
NM_001277115.2(DNAH11):c.2982G>A (p.Leu994=)
NM_001277115.2(DNAH11):c.3000+16_3000+18del
NM_001277115.2(DNAH11):c.3000+19G>A
NM_001277115.2(DNAH11):c.3000+20G>A rs749028597
NM_001277115.2(DNAH11):c.3000+20_3000+24dup
NM_001277115.2(DNAH11):c.3001-11C>T rs1785044072
NM_001277115.2(DNAH11):c.3001-12C>T
NM_001277115.2(DNAH11):c.3001-17G>A
NM_001277115.2(DNAH11):c.3007A>G (p.Met1003Val)
NM_001277115.2(DNAH11):c.3023G>C (p.Gly1008Ala)
NM_001277115.2(DNAH11):c.3025C>T (p.Leu1009=)
NM_001277115.2(DNAH11):c.3027G>A (p.Leu1009=)
NM_001277115.2(DNAH11):c.302G>C (p.Cys101Ser)
NM_001277115.2(DNAH11):c.3036C>A (p.Val1012=)
NM_001277115.2(DNAH11):c.3037A>G (p.Arg1013Gly)
NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr)
NM_001277115.2(DNAH11):c.3048C>T (p.Ile1016=) rs2128446907
NM_001277115.2(DNAH11):c.3054C>T (p.Asn1018=)
NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=)
NM_001277115.2(DNAH11):c.3092G>C (p.Arg1031Thr) rs1385242394
NM_001277115.2(DNAH11):c.3096C>T (p.Asn1032=)
NM_001277115.2(DNAH11):c.3097A>G (p.Thr1033Ala)
NM_001277115.2(DNAH11):c.3114T>C (p.Thr1038=)
NM_001277115.2(DNAH11):c.3126G>C (p.Val1042=)
NM_001277115.2(DNAH11):c.3128A>G (p.Asp1043Gly)
NM_001277115.2(DNAH11):c.3134G>T (p.Arg1045Leu)
NM_001277115.2(DNAH11):c.3150G>A (p.Lys1050=)
NM_001277115.2(DNAH11):c.3151C>T (p.His1051Tyr)
NM_001277115.2(DNAH11):c.3157C>T (p.Leu1053Phe)
NM_001277115.2(DNAH11):c.3162G>T (p.Leu1054Phe)
NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)
NM_001277115.2(DNAH11):c.3177G>A (p.Val1059=)
NM_001277115.2(DNAH11):c.3179C>T (p.Ser1060Phe) rs1161706526
NM_001277115.2(DNAH11):c.3187G>A (p.Glu1063Lys)
NM_001277115.2(DNAH11):c.3192G>C (p.Met1064Ile)
NM_001277115.2(DNAH11):c.31C>G (p.Arg11Gly)
NM_001277115.2(DNAH11):c.320C>T (p.Ala107Val)
NM_001277115.2(DNAH11):c.3231A>G (p.Pro1077=)
NM_001277115.2(DNAH11):c.324C>A (p.Ala108=)
NM_001277115.2(DNAH11):c.3255+11C>T
NM_001277115.2(DNAH11):c.3255+13C>G
NM_001277115.2(DNAH11):c.3255+16_3255+17insTGG
NM_001277115.2(DNAH11):c.3255+17G>C
NM_001277115.2(DNAH11):c.3256-12_3256-11del
NM_001277115.2(DNAH11):c.3256-19A>C
NM_001277115.2(DNAH11):c.3260A>G (p.Asp1087Gly)
NM_001277115.2(DNAH11):c.3264T>C (p.Ile1088=)
NM_001277115.2(DNAH11):c.3267T>C (p.Tyr1089=)
NM_001277115.2(DNAH11):c.327G>C (p.Ser109=)
NM_001277115.2(DNAH11):c.3282T>C (p.Val1094=)
NM_001277115.2(DNAH11):c.3285A>G (p.Gln1095=)
NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln) rs1471867391
NM_001277115.2(DNAH11):c.330G>T (p.Gly110=)
NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)
NM_001277115.2(DNAH11):c.3345T>C (p.Pro1115=)
NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala)
NM_001277115.2(DNAH11):c.3366C>G (p.Thr1122=)
NM_001277115.2(DNAH11):c.3378A>G (p.Lys1126=)
NM_001277115.2(DNAH11):c.3396G>A (p.Gln1132=)
NM_001277115.2(DNAH11):c.339G>A (p.Ala113=)
NM_001277115.2(DNAH11):c.3417C>T (p.Val1139=)
NM_001277115.2(DNAH11):c.3425+11A>G
NM_001277115.2(DNAH11):c.3425+12C>A
NM_001277115.2(DNAH11):c.3425+18T>C
NM_001277115.2(DNAH11):c.3425+19T>G
NM_001277115.2(DNAH11):c.3426-11A>G
NM_001277115.2(DNAH11):c.3426-15A>G
NM_001277115.2(DNAH11):c.3426-16C>T
NM_001277115.2(DNAH11):c.3426-18T>C
NM_001277115.2(DNAH11):c.3426-18T>G rs886038462
NM_001277115.2(DNAH11):c.3431A>T (p.Asn1144Ile) rs762955756
NM_001277115.2(DNAH11):c.3435G>A (p.Glu1145=)
NM_001277115.2(DNAH11):c.3442G>A (p.Glu1148Lys)
NM_001277115.2(DNAH11):c.3457A>T (p.Thr1153Ser)
NM_001277115.2(DNAH11):c.3461A>G (p.Asp1154Gly)
NM_001277115.2(DNAH11):c.3465C>T (p.Ser1155=)
NM_001277115.2(DNAH11):c.3472C>G (p.Gln1158Glu)
NM_001277115.2(DNAH11):c.3476G>A (p.Arg1159Lys) rs1192624503
NM_001277115.2(DNAH11):c.3488A>G (p.Glu1163Gly)
NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp)
NM_001277115.2(DNAH11):c.3492T>C (p.Gly1164=)
NM_001277115.2(DNAH11):c.3500A>G (p.Asp1167Gly)
NM_001277115.2(DNAH11):c.3509T>C (p.Val1170Ala)
NM_001277115.2(DNAH11):c.351+10G>T
NM_001277115.2(DNAH11):c.351+12C>T
NM_001277115.2(DNAH11):c.351+15G>A
NM_001277115.2(DNAH11):c.351+7G>A
NM_001277115.2(DNAH11):c.351+9C>G
NM_001277115.2(DNAH11):c.352-13G>A
NM_001277115.2(DNAH11):c.352-13G>C
NM_001277115.2(DNAH11):c.352-20T>C
NM_001277115.2(DNAH11):c.352-7G>A
NM_001277115.2(DNAH11):c.352-7G>C
NM_001277115.2(DNAH11):c.352-9_352-8del
NM_001277115.2(DNAH11):c.3528T>C (p.Leu1176=)
NM_001277115.2(DNAH11):c.3529C>T (p.Leu1177=)
NM_001277115.2(DNAH11):c.3531G>C (p.Leu1177=)
NM_001277115.2(DNAH11):c.3532G>T (p.Ala1178Ser)
NM_001277115.2(DNAH11):c.3543C>T (p.Ser1181=)
NM_001277115.2(DNAH11):c.3556A>G (p.Thr1186Ala)
NM_001277115.2(DNAH11):c.3567C>G (p.Leu1189=)
NM_001277115.2(DNAH11):c.3570T>C (p.Phe1190=)
NM_001277115.2(DNAH11):c.3577C>T (p.Leu1193=)
NM_001277115.2(DNAH11):c.3579A>G (p.Leu1193=)
NM_001277115.2(DNAH11):c.3585A>G (p.Glu1195=)
NM_001277115.2(DNAH11):c.3588G>A (p.Thr1196=) rs375767160
NM_001277115.2(DNAH11):c.3588G>T (p.Thr1196=)
NM_001277115.2(DNAH11):c.3589A>G (p.Ile1197Val)
NM_001277115.2(DNAH11):c.3592A>G (p.Thr1198Ala)
NM_001277115.2(DNAH11):c.3597C>T (p.Leu1199=)
NM_001277115.2(DNAH11):c.3622C>G (p.Pro1208Ala)
NM_001277115.2(DNAH11):c.3645A>G (p.Leu1215=)
NM_001277115.2(DNAH11):c.3648+10G>C
NM_001277115.2(DNAH11):c.3648+14T>C
NM_001277115.2(DNAH11):c.3648+15G>A
NM_001277115.2(DNAH11):c.3648+19_3648+26dup
NM_001277115.2(DNAH11):c.3648+20A>G
NM_001277115.2(DNAH11):c.3648+23_3648+28del
NM_001277115.2(DNAH11):c.3648+7G>T
NM_001277115.2(DNAH11):c.3649-11T>C
NM_001277115.2(DNAH11):c.3649-12T>C
NM_001277115.2(DNAH11):c.3649-16G>A
NM_001277115.2(DNAH11):c.3649-5T>C
NM_001277115.2(DNAH11):c.3655C>T (p.Pro1219Ser)
NM_001277115.2(DNAH11):c.3657T>A (p.Pro1219=) rs761230822
NM_001277115.2(DNAH11):c.3672T>A (p.Thr1224=)
NM_001277115.2(DNAH11):c.3676A>G (p.Lys1226Glu)
NM_001277115.2(DNAH11):c.3684C>A (p.Ile1228=)
NM_001277115.2(DNAH11):c.3684C>G (p.Ile1228Met)
NM_001277115.2(DNAH11):c.3685G>T (p.Ala1229Ser)
NM_001277115.2(DNAH11):c.3693T>C (p.Thr1231=)
NM_001277115.2(DNAH11):c.3696C>T (p.Val1232=)
NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu)
NM_001277115.2(DNAH11):c.3711A>G (p.Ser1237=)
NM_001277115.2(DNAH11):c.3717C>G (p.Leu1239=)
NM_001277115.2(DNAH11):c.3723T>C (p.Asn1241=)
NM_001277115.2(DNAH11):c.3740T>C (p.Ile1247Thr)
NM_001277115.2(DNAH11):c.3743G>C (p.Arg1248Thr)
NM_001277115.2(DNAH11):c.3754A>G (p.Ile1252Val) rs752456028
NM_001277115.2(DNAH11):c.3765+11T>C
NM_001277115.2(DNAH11):c.3765+13C>A
NM_001277115.2(DNAH11):c.3765+14C>G
NM_001277115.2(DNAH11):c.3765+16A>G
NM_001277115.2(DNAH11):c.3765+17G>C
NM_001277115.2(DNAH11):c.3766-11G>T
NM_001277115.2(DNAH11):c.3766-11dup
NM_001277115.2(DNAH11):c.3766-15T>C
NM_001277115.2(DNAH11):c.3766-20_3766-19insC
NM_001277115.2(DNAH11):c.3766-9A>T
NM_001277115.2(DNAH11):c.3783C>T (p.Phe1261=)
NM_001277115.2(DNAH11):c.3785G>T (p.Arg1262Ile)
NM_001277115.2(DNAH11):c.3805G>A (p.Ala1269Thr)
NM_001277115.2(DNAH11):c.3807C>A (p.Ala1269=)
NM_001277115.2(DNAH11):c.3807C>T (p.Ala1269=)
NM_001277115.2(DNAH11):c.3810T>A (p.Pro1270=)
NM_001277115.2(DNAH11):c.3813T>G (p.Leu1271=)
NM_001277115.2(DNAH11):c.3833C>T (p.Pro1278Leu) rs370684371
NM_001277115.2(DNAH11):c.3834A>G (p.Pro1278=)
NM_001277115.2(DNAH11):c.3835T>C (p.Tyr1279His)
NM_001277115.2(DNAH11):c.3840A>C (p.Thr1280=)
NM_001277115.2(DNAH11):c.3852+19A>C
NM_001277115.2(DNAH11):c.3852+7C>A
NM_001277115.2(DNAH11):c.3853-8C>T
NM_001277115.2(DNAH11):c.3855A>C (p.Ala1285=)
NM_001277115.2(DNAH11):c.3864G>A (p.Glu1288=)
NM_001277115.2(DNAH11):c.3870G>A (p.Glu1290=)
NM_001277115.2(DNAH11):c.3882A>G (p.Glu1294=)
NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys) rs375160708
NM_001277115.2(DNAH11):c.3912T>A (p.Arg1304=)
NM_001277115.2(DNAH11):c.3919G>C (p.Glu1307Gln)
NM_001277115.2(DNAH11):c.3924G>A (p.Val1308=)
NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly)
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
NM_001277115.2(DNAH11):c.3970A>C (p.Lys1324Gln)
NM_001277115.2(DNAH11):c.3973T>C (p.Leu1325=)
NM_001277115.2(DNAH11):c.3980A>G (p.Lys1327Arg)
NM_001277115.2(DNAH11):c.3996C>T (p.Val1332=)
NM_001277115.2(DNAH11):c.39C>T (p.Phe13=)
NM_001277115.2(DNAH11):c.4003T>A (p.Tyr1335Asn)
NM_001277115.2(DNAH11):c.4005T>C (p.Tyr1335=)
NM_001277115.2(DNAH11):c.4011+11C>T
NM_001277115.2(DNAH11):c.4011+16T>A
NM_001277115.2(DNAH11):c.4012-10G>A
NM_001277115.2(DNAH11):c.4012-16G>C
NM_001277115.2(DNAH11):c.4012-18C>T
NM_001277115.2(DNAH11):c.4012-20A>G
NM_001277115.2(DNAH11):c.4012-9C>T
NM_001277115.2(DNAH11):c.4014A>G (p.Arg1338=)
NM_001277115.2(DNAH11):c.4017C>T (p.Ser1339=)
NM_001277115.2(DNAH11):c.4018A>G (p.Ile1340Val)
NM_001277115.2(DNAH11):c.4026T>C (p.Asn1342=)
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
NM_001277115.2(DNAH11):c.4046G>C (p.Arg1349Thr)
NM_001277115.2(DNAH11):c.4047A>G (p.Arg1349=)
NM_001277115.2(DNAH11):c.4052T>A (p.Ile1351Asn)
NM_001277115.2(DNAH11):c.4056T>C (p.His1352=)
NM_001277115.2(DNAH11):c.4062A>G (p.Glu1354=) rs1785778629
NM_001277115.2(DNAH11):c.4071T>C (p.Asp1357=)
NM_001277115.2(DNAH11):c.4092C>T (p.Ala1364=)
NM_001277115.2(DNAH11):c.4095+10A>G
NM_001277115.2(DNAH11):c.4095+15T>G rs2128452657
NM_001277115.2(DNAH11):c.4095+19T>C
NM_001277115.2(DNAH11):c.4095+20A>G
NM_001277115.2(DNAH11):c.4096-12A>G
NM_001277115.2(DNAH11):c.4096-13C>T
NM_001277115.2(DNAH11):c.4096-20T>C
NM_001277115.2(DNAH11):c.4096-3del
NM_001277115.2(DNAH11):c.4096-8T>G
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
NM_001277115.2(DNAH11):c.4108C>T (p.Leu1370Phe)
NM_001277115.2(DNAH11):c.4118A>C (p.Glu1373Ala)
NM_001277115.2(DNAH11):c.4123C>G (p.Arg1375Gly)
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=) rs570983771
NM_001277115.2(DNAH11):c.4125C>T (p.Arg1375=) rs570983771
NM_001277115.2(DNAH11):c.4133A>G (p.Asp1378Gly)
NM_001277115.2(DNAH11):c.4142C>G (p.Thr1381Arg)
NM_001277115.2(DNAH11):c.4147C>T (p.Leu1383=)
NM_001277115.2(DNAH11):c.414A>G (p.Gly138=)
NM_001277115.2(DNAH11):c.4158A>G (p.Thr1386=)
NM_001277115.2(DNAH11):c.4162A>G (p.Lys1388Glu)
NM_001277115.2(DNAH11):c.4164G>A (p.Lys1388=)
NM_001277115.2(DNAH11):c.4164G>T (p.Lys1388Asn)
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
NM_001277115.2(DNAH11):c.4179C>T (p.Ser1393=)
NM_001277115.2(DNAH11):c.417A>C (p.Val139=) rs1583469182
NM_001277115.2(DNAH11):c.4180C>T (p.Leu1394=)
NM_001277115.2(DNAH11):c.4181T>A (p.Leu1394Gln)
NM_001277115.2(DNAH11):c.4196A>G (p.Glu1399Gly)
NM_001277115.2(DNAH11):c.4209T>A (p.Pro1403=)
NM_001277115.2(DNAH11):c.4216A>C (p.Arg1406=)
NM_001277115.2(DNAH11):c.4233C>T (p.His1411=)
NM_001277115.2(DNAH11):c.4239G>C (p.Leu1413=)
NM_001277115.2(DNAH11):c.4254+10C>T
NM_001277115.2(DNAH11):c.4254+11T>A
NM_001277115.2(DNAH11):c.4254+12T>C
NM_001277115.2(DNAH11):c.4254+15T>C
NM_001277115.2(DNAH11):c.4254+16C>G
NM_001277115.2(DNAH11):c.4254+16C>T
NM_001277115.2(DNAH11):c.4254+7A>G rs2128453164
NM_001277115.2(DNAH11):c.4254+9C>G
NM_001277115.2(DNAH11):c.4255-10C>G
NM_001277115.2(DNAH11):c.4255-11C>A
NM_001277115.2(DNAH11):c.4255-12T>C
NM_001277115.2(DNAH11):c.4255-14T>G
NM_001277115.2(DNAH11):c.4255-15T>G
NM_001277115.2(DNAH11):c.4255-17T>C
NM_001277115.2(DNAH11):c.4255-18T>G
NM_001277115.2(DNAH11):c.4255-19C>G
NM_001277115.2(DNAH11):c.4255-5A>T
NM_001277115.2(DNAH11):c.4255-8C>T rs2128453713
NM_001277115.2(DNAH11):c.426T>C (p.Phe142=)
NM_001277115.2(DNAH11):c.4289C>T (p.Ala1430Val)
NM_001277115.2(DNAH11):c.4296G>C (p.Leu1432Phe)
NM_001277115.2(DNAH11):c.429T>A (p.Ser143=)
NM_001277115.2(DNAH11):c.429T>C (p.Ser143=)
NM_001277115.2(DNAH11):c.4306C>G (p.Arg1436Gly)
NM_001277115.2(DNAH11):c.4308G>A (p.Arg1436=)
NM_001277115.2(DNAH11):c.4312C>T (p.His1438Tyr)
NM_001277115.2(DNAH11):c.4314C>T (p.His1438=)
NM_001277115.2(DNAH11):c.4329T>C (p.Asp1443=)
NM_001277115.2(DNAH11):c.4331T>C (p.Val1444Ala)
NM_001277115.2(DNAH11):c.4332C>G (p.Val1444=)
NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr)
NM_001277115.2(DNAH11):c.4365G>A (p.Leu1455=)
NM_001277115.2(DNAH11):c.4368G>A (p.Gly1456=)
NM_001277115.2(DNAH11):c.4370C>G (p.Thr1457Ser)
NM_001277115.2(DNAH11):c.4377+12G>A
NM_001277115.2(DNAH11):c.4377+12G>C
NM_001277115.2(DNAH11):c.4377+14G>T
NM_001277115.2(DNAH11):c.4377+16C>T
NM_001277115.2(DNAH11):c.4377+7T>G
NM_001277115.2(DNAH11):c.4377+9C>T
NM_001277115.2(DNAH11):c.4378-15A>G
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTG
NM_001277115.2(DNAH11):c.4378-18dup
NM_001277115.2(DNAH11):c.4378-19_4378-18insCAATT
NM_001277115.2(DNAH11):c.4378-5A>C rs980220652
NM_001277115.2(DNAH11):c.4381A>G (p.Ile1461Val)
NM_001277115.2(DNAH11):c.4394G>T (p.Ser1465Ile)
NM_001277115.2(DNAH11):c.4401C>T (p.Thr1467=)
NM_001277115.2(DNAH11):c.4411A>G (p.Met1471Val)
NM_001277115.2(DNAH11):c.4421C>T (p.Ser1474Phe)
NM_001277115.2(DNAH11):c.4426G>A (p.Glu1476Lys)
NM_001277115.2(DNAH11):c.4450C>A (p.Pro1484Thr)
NM_001277115.2(DNAH11):c.4452A>C (p.Pro1484=)
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
NM_001277115.2(DNAH11):c.4467T>C (p.Asp1489=)
NM_001277115.2(DNAH11):c.4473A>G (p.Gln1491=)
NM_001277115.2(DNAH11):c.4477T>C (p.Phe1493Leu)
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=) rs886062170
NM_001277115.2(DNAH11):c.4488A>G (p.Leu1496=)
NM_001277115.2(DNAH11):c.44A>T (p.Glu15Val)
NM_001277115.2(DNAH11):c.4500+14T>A
NM_001277115.2(DNAH11):c.4500+18A>G
NM_001277115.2(DNAH11):c.4500+19T>C
NM_001277115.2(DNAH11):c.4500+20T>A
NM_001277115.2(DNAH11):c.4500+9G>A
NM_001277115.2(DNAH11):c.4500+9G>C
NM_001277115.2(DNAH11):c.4501-11C>T
NM_001277115.2(DNAH11):c.4501-12C>G
NM_001277115.2(DNAH11):c.4501-13G>C
NM_001277115.2(DNAH11):c.4501-19T>C
NM_001277115.2(DNAH11):c.4501-20A>G
NM_001277115.2(DNAH11):c.4501-20A>T
NM_001277115.2(DNAH11):c.4501-8dup
NM_001277115.2(DNAH11):c.4503T>C (p.Val1501=)
NM_001277115.2(DNAH11):c.4515T>C (p.Thr1505=)
NM_001277115.2(DNAH11):c.4522C>A (p.Gln1508Lys)
NM_001277115.2(DNAH11):c.4525A>G (p.Ser1509Gly)
NM_001277115.2(DNAH11):c.4530G>A (p.Lys1510=)
NM_001277115.2(DNAH11):c.4532A>G (p.Tyr1511Cys)
NM_001277115.2(DNAH11):c.4536A>G (p.Val1512=)
NM_001277115.2(DNAH11):c.4544T>G (p.Phe1515Cys)
NM_001277115.2(DNAH11):c.4545C>T (p.Phe1515=)
NM_001277115.2(DNAH11):c.4547T>C (p.Ile1516Thr)
NM_001277115.2(DNAH11):c.454C>A (p.Pro152Thr)
NM_001277115.2(DNAH11):c.4575A>G (p.Lys1525=)
NM_001277115.2(DNAH11):c.4576T>A (p.Leu1526Ile)
NM_001277115.2(DNAH11):c.4580A>G (p.Asn1527Ser)
NM_001277115.2(DNAH11):c.4581C>T (p.Asn1527=)
NM_001277115.2(DNAH11):c.4582A>G (p.Ile1528Val)
NM_001277115.2(DNAH11):c.4590C>T (p.Asp1530=)
NM_001277115.2(DNAH11):c.4599C>T (p.Ile1533=)
NM_001277115.2(DNAH11):c.4611G>A (p.Met1537Ile)
NM_001277115.2(DNAH11):c.4621C>A (p.Arg1541=) rs757013900
NM_001277115.2(DNAH11):c.4625C>T (p.Thr1542Ile)
NM_001277115.2(DNAH11):c.4644C>T (p.Ser1548=)
NM_001277115.2(DNAH11):c.4664A>G (p.Asp1555Gly)
NM_001277115.2(DNAH11):c.4668T>G (p.Ile1556Met)
NM_001277115.2(DNAH11):c.4671A>G (p.Arg1557=)
NM_001277115.2(DNAH11):c.4683G>A (p.Val1561=)
NM_001277115.2(DNAH11):c.4688A>G (p.Asp1563Gly)
NM_001277115.2(DNAH11):c.4689T>C (p.Asp1563=)
NM_001277115.2(DNAH11):c.4707G>C (p.Gly1569=) rs780784315
NM_001277115.2(DNAH11):c.4725+13C>G
NM_001277115.2(DNAH11):c.4725+16G>T
NM_001277115.2(DNAH11):c.4725+9A>G
NM_001277115.2(DNAH11):c.4726-16T>C
NM_001277115.2(DNAH11):c.4726-18T>A
NM_001277115.2(DNAH11):c.4726-19G>A
NM_001277115.2(DNAH11):c.4726-20C>T
NM_001277115.2(DNAH11):c.4726-5T>C
NM_001277115.2(DNAH11):c.4728G>A (p.Glu1576=)
NM_001277115.2(DNAH11):c.473A>G (p.His158Arg)
NM_001277115.2(DNAH11):c.4748A>G (p.Lys1583Arg)
NM_001277115.2(DNAH11):c.4761G>A (p.Val1587=)
NM_001277115.2(DNAH11):c.476T>C (p.Val159Ala)
NM_001277115.2(DNAH11):c.4773G>T (p.Thr1591=)
NM_001277115.2(DNAH11):c.477A>G (p.Val159=)
NM_001277115.2(DNAH11):c.4785T>C (p.Asn1595=)
NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe)
NM_001277115.2(DNAH11):c.4802A>G (p.Lys1601Arg)
NM_001277115.2(DNAH11):c.4809A>G (p.Leu1603=) rs2128459924
NM_001277115.2(DNAH11):c.4815C>T (p.Ser1605=)
NM_001277115.2(DNAH11):c.4817+12G>A
NM_001277115.2(DNAH11):c.4817+12G>T
NM_001277115.2(DNAH11):c.4817+13C>A
NM_001277115.2(DNAH11):c.4817+14T>A
NM_001277115.2(DNAH11):c.4817+15A>G rs1411925317
NM_001277115.2(DNAH11):c.4817+17A>G
NM_001277115.2(DNAH11):c.4817+7A>T rs563875721
NM_001277115.2(DNAH11):c.4818-10A>T
NM_001277115.2(DNAH11):c.4818-13T>G
NM_001277115.2(DNAH11):c.4818-17A>G
NM_001277115.2(DNAH11):c.4818-20A>C
NM_001277115.2(DNAH11):c.4818-5T>C
NM_001277115.2(DNAH11):c.4818-6A>G
NM_001277115.2(DNAH11):c.4818-6A>T rs764444413
NM_001277115.2(DNAH11):c.4818-8T>G
NM_001277115.2(DNAH11):c.4824T>C (p.Ser1608=)
NM_001277115.2(DNAH11):c.4843G>A (p.Ala1615Thr)
NM_001277115.2(DNAH11):c.4845T>C (p.Ala1615=)
NM_001277115.2(DNAH11):c.4860C>G (p.Thr1620=)
NM_001277115.2(DNAH11):c.4860C>T (p.Thr1620=)
NM_001277115.2(DNAH11):c.4867A>G (p.Ile1623Val)
NM_001277115.2(DNAH11):c.486C>T (p.Phe162=)
NM_001277115.2(DNAH11):c.4876C>G (p.Pro1626Ala)
NM_001277115.2(DNAH11):c.4899T>A (p.Ser1633=)
NM_001277115.2(DNAH11):c.4908A>G (p.Leu1636=)
NM_001277115.2(DNAH11):c.4910T>G (p.Leu1637Arg)
NM_001277115.2(DNAH11):c.4915A>C (p.Ile1639Leu)
NM_001277115.2(DNAH11):c.491A>G (p.Asp164Gly)
NM_001277115.2(DNAH11):c.491A>T (p.Asp164Val) rs1342908676
NM_001277115.2(DNAH11):c.4920C>G (p.Leu1640=)
NM_001277115.2(DNAH11):c.4932T>C (p.Ala1644=)
NM_001277115.2(DNAH11):c.4944+14T>C
NM_001277115.2(DNAH11):c.4944+16A>G
NM_001277115.2(DNAH11):c.4944+7T>C rs1787002901
NM_001277115.2(DNAH11):c.4945-10C>T
NM_001277115.2(DNAH11):c.4945-13A>G
NM_001277115.2(DNAH11):c.4945-15A>T rs373118205
NM_001277115.2(DNAH11):c.4945-16A>G
NM_001277115.2(DNAH11):c.4945-6T>C
NM_001277115.2(DNAH11):c.4945-8C>T
NM_001277115.2(DNAH11):c.4945-8del
NM_001277115.2(DNAH11):c.4949C>T (p.Thr1650Ile) rs1374375239
NM_001277115.2(DNAH11):c.495+11G>A
NM_001277115.2(DNAH11):c.495+11G>T
NM_001277115.2(DNAH11):c.495+16T>G
NM_001277115.2(DNAH11):c.495+17A>C
NM_001277115.2(DNAH11):c.495+18A>T
NM_001277115.2(DNAH11):c.495+19T>G
NM_001277115.2(DNAH11):c.495+20A>G
NM_001277115.2(DNAH11):c.4956C>T (p.His1652=)
NM_001277115.2(DNAH11):c.496-12C>G
NM_001277115.2(DNAH11):c.496-18A>G
NM_001277115.2(DNAH11):c.4962C>T (p.Ala1654=)
NM_001277115.2(DNAH11):c.4977C>T (p.Ser1659=)
NM_001277115.2(DNAH11):c.4978A>G (p.Ile1660Val)
NM_001277115.2(DNAH11):c.4992G>A (p.Gln1664=)
NM_001277115.2(DNAH11):c.4995T>G (p.Phe1665Leu) rs1421038751
NM_001277115.2(DNAH11):c.4998A>G (p.Glu1666=)
NM_001277115.2(DNAH11):c.5009A>G (p.Asp1670Gly)
NM_001277115.2(DNAH11):c.5019A>C (p.Ala1673=)
NM_001277115.2(DNAH11):c.5043C>T (p.Ser1681=)
NM_001277115.2(DNAH11):c.5067C>A (p.Phe1689Leu)
NM_001277115.2(DNAH11):c.5067C>T (p.Phe1689=)
NM_001277115.2(DNAH11):c.5073C>T (p.Ala1691=)
NM_001277115.2(DNAH11):c.5076G>A (p.Glu1692=)
NM_001277115.2(DNAH11):c.5078G>C (p.Cys1693Ser)
NM_001277115.2(DNAH11):c.507A>C (p.Pro169=)
NM_001277115.2(DNAH11):c.5094+20T>C
NM_001277115.2(DNAH11):c.5094+20T>G
NM_001277115.2(DNAH11):c.5094+8T>C
NM_001277115.2(DNAH11):c.5095-6C>T
NM_001277115.2(DNAH11):c.5115A>G (p.Gln1705=)
NM_001277115.2(DNAH11):c.5121A>G (p.Glu1707=)
NM_001277115.2(DNAH11):c.5136A>G (p.Glu1712=)
NM_001277115.2(DNAH11):c.5139G>A (p.Thr1713=)
NM_001277115.2(DNAH11):c.5139G>C (p.Thr1713=)
NM_001277115.2(DNAH11):c.5144G>C (p.Arg1715Pro)
NM_001277115.2(DNAH11):c.5157A>C (p.Thr1719=)
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=) rs149538783
NM_001277115.2(DNAH11):c.5163C>T (p.Ala1721=)
NM_001277115.2(DNAH11):c.5165T>C (p.Ile1722Thr)
NM_001277115.2(DNAH11):c.5172C>T (p.Ala1724=)
NM_001277115.2(DNAH11):c.5187T>C (p.Pro1729=)
NM_001277115.2(DNAH11):c.5192A>T (p.Glu1731Val)
NM_001277115.2(DNAH11):c.51G>A (p.Pro17=) rs1402035790
NM_001277115.2(DNAH11):c.5206G>T (p.Asp1736Tyr)
NM_001277115.2(DNAH11):c.5226A>C (p.Ala1742=)
NM_001277115.2(DNAH11):c.5226A>G (p.Ala1742=)
NM_001277115.2(DNAH11):c.522G>T (p.Lys174Asn)
NM_001277115.2(DNAH11):c.5232C>T (p.Thr1744=)
NM_001277115.2(DNAH11):c.5235C>T (p.Ser1745=)
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
NM_001277115.2(DNAH11):c.5253C>A (p.Thr1751=)
NM_001277115.2(DNAH11):c.5262A>C (p.Val1754=)
NM_001277115.2(DNAH11):c.5262A>G (p.Val1754=)
NM_001277115.2(DNAH11):c.5279G>A (p.Arg1760Lys)
NM_001277115.2(DNAH11):c.5281C>A (p.Leu1761Met)
NM_001277115.2(DNAH11):c.5292C>A (p.Gly1764=)
NM_001277115.2(DNAH11):c.529C>G (p.His177Asp)
NM_001277115.2(DNAH11):c.529C>T (p.His177Tyr)
NM_001277115.2(DNAH11):c.5307G>A (p.Leu1769=)
NM_001277115.2(DNAH11):c.530A>G (p.His177Arg)
NM_001277115.2(DNAH11):c.5310G>A (p.Lys1770=)
NM_001277115.2(DNAH11):c.5313T>C (p.Asp1771=)
NM_001277115.2(DNAH11):c.5328+10A>G
NM_001277115.2(DNAH11):c.5328+12A>G
NM_001277115.2(DNAH11):c.5328+15T>G
NM_001277115.2(DNAH11):c.5328+15TG[3]
NM_001277115.2(DNAH11):c.5328+16G>A
NM_001277115.2(DNAH11):c.5328+17T>C
NM_001277115.2(DNAH11):c.5328+20T>C
NM_001277115.2(DNAH11):c.5329-11A>G
NM_001277115.2(DNAH11):c.5329-12G>T
NM_001277115.2(DNAH11):c.5329-16A>C
NM_001277115.2(DNAH11):c.5329-19A>G
NM_001277115.2(DNAH11):c.5329-4C>A
NM_001277115.2(DNAH11):c.5329-6T>G
NM_001277115.2(DNAH11):c.5338C>T (p.Leu1780=)
NM_001277115.2(DNAH11):c.5355A>C (p.Thr1785=)
NM_001277115.2(DNAH11):c.5367A>G (p.Gly1789=)
NM_001277115.2(DNAH11):c.5370A>G (p.Glu1790=)
NM_001277115.2(DNAH11):c.5376A>G (p.Pro1792=)
NM_001277115.2(DNAH11):c.5381G>C (p.Gly1794Ala)
NM_001277115.2(DNAH11):c.5385C>G (p.Asp1795Glu) rs2128472348
NM_001277115.2(DNAH11):c.5394G>A (p.Lys1798=) rs1214029970
NM_001277115.2(DNAH11):c.5418T>C (p.Asp1806=)
NM_001277115.2(DNAH11):c.5421C>A (p.Val1807=)
NM_001277115.2(DNAH11):c.5427C>T (p.Ala1809=) rs372177670
NM_001277115.2(DNAH11):c.5429G>A (p.Arg1810Lys)
NM_001277115.2(DNAH11):c.5444A>G (p.Lys1815Arg)
NM_001277115.2(DNAH11):c.5448T>A (p.Leu1816=)
NM_001277115.2(DNAH11):c.5460+11T>C
NM_001277115.2(DNAH11):c.5460+15G>C
NM_001277115.2(DNAH11):c.5461-12C>T
NM_001277115.2(DNAH11):c.5461-13G>A
NM_001277115.2(DNAH11):c.5461-16T>G
NM_001277115.2(DNAH11):c.5461-18A>G
NM_001277115.2(DNAH11):c.5461-19G>T
NM_001277115.2(DNAH11):c.5461-8G>T
NM_001277115.2(DNAH11):c.5466C>A (p.Val1822=)
NM_001277115.2(DNAH11):c.5496A>G (p.Gln1832=)
NM_001277115.2(DNAH11):c.5506C>A (p.Arg1836=)
NM_001277115.2(DNAH11):c.5511G>T (p.Trp1837Cys)
NM_001277115.2(DNAH11):c.5513A>G (p.Glu1838Gly)
NM_001277115.2(DNAH11):c.5520C>A (p.Thr1840=)
NM_001277115.2(DNAH11):c.5526A>G (p.Lys1842=) rs2128473055
NM_001277115.2(DNAH11):c.5568C>A (p.Phe1856Leu)
NM_001277115.2(DNAH11):c.5583A>C (p.Gly1861=)
NM_001277115.2(DNAH11):c.5584A>G (p.Asn1862Asp)
NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln)
NM_001277115.2(DNAH11):c.5595A>G (p.Arg1865=)
NM_001277115.2(DNAH11):c.5601G>C (p.Val1867=)
NM_001277115.2(DNAH11):c.560A>G (p.Asp187Gly)
NM_001277115.2(DNAH11):c.5613A>G (p.Leu1871=) rs546155868
NM_001277115.2(DNAH11):c.5621+17T>G
NM_001277115.2(DNAH11):c.5621+18C>A
NM_001277115.2(DNAH11):c.5621+20G>A rs372643687
NM_001277115.2(DNAH11):c.5621+20G>C
NM_001277115.2(DNAH11):c.5621+20G>T
NM_001277115.2(DNAH11):c.5622-11A>C
NM_001277115.2(DNAH11):c.5622-11A>G
NM_001277115.2(DNAH11):c.5622-13C>G
NM_001277115.2(DNAH11):c.5622-4A>G
NM_001277115.2(DNAH11):c.562A>G (p.Met188Val)
NM_001277115.2(DNAH11):c.5631T>C (p.Ile1877=)
NM_001277115.2(DNAH11):c.5634C>A (p.Thr1878=)
NM_001277115.2(DNAH11):c.5643A>G (p.Gln1881=)
NM_001277115.2(DNAH11):c.5649T>G (p.Leu1883=)
NM_001277115.2(DNAH11):c.5670T>C (p.Ala1890=)
NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr)
NM_001277115.2(DNAH11):c.5675C>A (p.Ala1892Asp) rs534484091
NM_001277115.2(DNAH11):c.5679C>T (p.Gly1893=)
NM_001277115.2(DNAH11):c.5688T>C (p.Gly1896=)
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
NM_001277115.2(DNAH11):c.5691C>G (p.Thr1897=)
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
NM_001277115.2(DNAH11):c.5694G>A (p.Gly1898=)
NM_001277115.2(DNAH11):c.5706C>T (p.Thr1902=)
NM_001277115.2(DNAH11):c.570T>C (p.Tyr190=)
NM_001277115.2(DNAH11):c.5715C>T (p.Asp1905=)
NM_001277115.2(DNAH11):c.5726C>T (p.Ala1909Val)
NM_001277115.2(DNAH11):c.5728C>G (p.Leu1910Val)
NM_001277115.2(DNAH11):c.5737A>G (p.Met1913Val)
NM_001277115.2(DNAH11):c.5739G>A (p.Met1913Ile)
NM_001277115.2(DNAH11):c.5740G>A (p.Val1914Ile)
NM_001277115.2(DNAH11):c.5742C>T (p.Val1914=)
NM_001277115.2(DNAH11):c.5744A>G (p.Tyr1915Cys)
NM_001277115.2(DNAH11):c.5748A>G (p.Val1916=) rs2128473955
NM_001277115.2(DNAH11):c.5778+10_5778+13del
NM_001277115.2(DNAH11):c.5778+12A>G
NM_001277115.2(DNAH11):c.5778+13G>A
NM_001277115.2(DNAH11):c.5778+7_5778+10del
NM_001277115.2(DNAH11):c.5779-14A>G
NM_001277115.2(DNAH11):c.5779-15C>T
NM_001277115.2(DNAH11):c.5779-16T>A
NM_001277115.2(DNAH11):c.5779-6A>G
NM_001277115.2(DNAH11):c.5779-9A>C
NM_001277115.2(DNAH11):c.5787C>A (p.Gly1929=)
NM_001277115.2(DNAH11):c.5790T>C (p.Asn1930=)
NM_001277115.2(DNAH11):c.5791A>G (p.Ile1931Val)
NM_001277115.2(DNAH11):c.5796T>C (p.Tyr1932=) rs1783424152
NM_001277115.2(DNAH11):c.5802A>G (p.Gly1934=)
NM_001277115.2(DNAH11):c.5806G>T (p.Val1936Leu)
NM_001277115.2(DNAH11):c.5826C>T (p.Gly1942=)
NM_001277115.2(DNAH11):c.5843A>C (p.Asn1948Thr) rs754385182
NM_001277115.2(DNAH11):c.5843A>G (p.Asn1948Ser)
NM_001277115.2(DNAH11):c.5845C>A (p.Arg1949=) rs372143147
NM_001277115.2(DNAH11):c.5859A>G (p.Glu1953=)
NM_001277115.2(DNAH11):c.5865G>A (p.Leu1955=)
NM_001277115.2(DNAH11):c.5865G>T (p.Leu1955=)
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=)
NM_001277115.2(DNAH11):c.5886G>C (p.Val1962=)
NM_001277115.2(DNAH11):c.5886G>T (p.Val1962=)
NM_001277115.2(DNAH11):c.5907C>T (p.Ile1969=)
NM_001277115.2(DNAH11):c.5924+10A>G
NM_001277115.2(DNAH11):c.5924+10A>T
NM_001277115.2(DNAH11):c.5924+11T>G
NM_001277115.2(DNAH11):c.5924+12G>T
NM_001277115.2(DNAH11):c.5924+16G>A
NM_001277115.2(DNAH11):c.5924+20T>C
NM_001277115.2(DNAH11):c.5924+7G>A
NM_001277115.2(DNAH11):c.5925-10T>C
NM_001277115.2(DNAH11):c.5925-13_5925-12del
NM_001277115.2(DNAH11):c.5925-18del
NM_001277115.2(DNAH11):c.5925-19A>G
NM_001277115.2(DNAH11):c.5925-7A>G
NM_001277115.2(DNAH11):c.5934T>C (p.Phe1978=)
NM_001277115.2(DNAH11):c.5940G>A (p.Gly1980=)
NM_001277115.2(DNAH11):c.5946T>C (p.Ala1982=)
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
NM_001277115.2(DNAH11):c.594G>A (p.Lys198=)
NM_001277115.2(DNAH11):c.5961A>G (p.Pro1987=)
NM_001277115.2(DNAH11):c.5974T>C (p.Phe1992Leu)
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr) rs1465555535
NM_001277115.2(DNAH11):c.5990C>A (p.Pro1997Gln)
NM_001277115.2(DNAH11):c.6003T>C (p.Gly2001=)
NM_001277115.2(DNAH11):c.6004C>A (p.Arg2002=)
NM_001277115.2(DNAH11):c.6009C>G (p.Thr2003=)
NM_001277115.2(DNAH11):c.6009C>T (p.Thr2003=)
NM_001277115.2(DNAH11):c.6031G>A (p.Ala2011Thr)
NM_001277115.2(DNAH11):c.6041+10A>C
NM_001277115.2(DNAH11):c.6041+10A>G
NM_001277115.2(DNAH11):c.6041+11T>C
NM_001277115.2(DNAH11):c.6041+11T>G
NM_001277115.2(DNAH11):c.6041+11del
NM_001277115.2(DNAH11):c.6041+13C>T
NM_001277115.2(DNAH11):c.6041+15T>C
NM_001277115.2(DNAH11):c.6041+16T>C
NM_001277115.2(DNAH11):c.6041+20G>A
NM_001277115.2(DNAH11):c.6041+7G>A
NM_001277115.2(DNAH11):c.6041+9_6041+10insGTGGC
NM_001277115.2(DNAH11):c.6042-14T>C
NM_001277115.2(DNAH11):c.6042-15T>C
NM_001277115.2(DNAH11):c.6042-18T>C
NM_001277115.2(DNAH11):c.6042-4T>A
NM_001277115.2(DNAH11):c.6042-7T>A
NM_001277115.2(DNAH11):c.6042-8C>A
NM_001277115.2(DNAH11):c.6060C>A (p.Ala2020=)
NM_001277115.2(DNAH11):c.6060C>G (p.Ala2020=)
NM_001277115.2(DNAH11):c.6060C>T (p.Ala2020=)
NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val)
NM_001277115.2(DNAH11):c.6073C>T (p.Leu2025=) rs368561050
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
NM_001277115.2(DNAH11):c.6078C>T (p.Ile2026=)
NM_001277115.2(DNAH11):c.6088T>C (p.Leu2030=)
NM_001277115.2(DNAH11):c.6090G>A (p.Leu2030=)
NM_001277115.2(DNAH11):c.6099T>C (p.Ala2033=)
NM_001277115.2(DNAH11):c.609G>A (p.Arg203=) rs764725981
NM_001277115.2(DNAH11):c.610G>A (p.Gly204Ser)
NM_001277115.2(DNAH11):c.6120T>C (p.Arg2040=)
NM_001277115.2(DNAH11):c.6121G>T (p.Ala2041Ser)
NM_001277115.2(DNAH11):c.6123A>G (p.Ala2041=)
NM_001277115.2(DNAH11):c.612C>A (p.Gly204=) rs762175035
NM_001277115.2(DNAH11):c.6139A>C (p.Ile2047Leu)
NM_001277115.2(DNAH11):c.6144G>A (p.Thr2048=)
NM_001277115.2(DNAH11):c.614A>C (p.Lys205Thr)
NM_001277115.2(DNAH11):c.6150C>T (p.Tyr2050=)
NM_001277115.2(DNAH11):c.6153G>A (p.Thr2051=)
NM_001277115.2(DNAH11):c.6161A>T (p.Lys2054Met)
NM_001277115.2(DNAH11):c.6162G>A (p.Lys2054=)
NM_001277115.2(DNAH11):c.617T>A (p.Met206Lys)
NM_001277115.2(DNAH11):c.6180+10C>T
NM_001277115.2(DNAH11):c.6180+14T>C
NM_001277115.2(DNAH11):c.6180+14T>G
NM_001277115.2(DNAH11):c.6180+18dup
NM_001277115.2(DNAH11):c.6180+19C>G
NM_001277115.2(DNAH11):c.6180+19C>T
NM_001277115.2(DNAH11):c.6180+20G>A
NM_001277115.2(DNAH11):c.6180+20G>T
NM_001277115.2(DNAH11):c.6180+8A>G
NM_001277115.2(DNAH11):c.6180+9T>C
NM_001277115.2(DNAH11):c.6181-13G>C
NM_001277115.2(DNAH11):c.6181-16C>A
NM_001277115.2(DNAH11):c.6181-16C>T
NM_001277115.2(DNAH11):c.6181-19A>C
NM_001277115.2(DNAH11):c.6181-21_6181-17del
NM_001277115.2(DNAH11):c.6181-8G>A
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
NM_001277115.2(DNAH11):c.6231T>C (p.Ala2077=)
NM_001277115.2(DNAH11):c.6240G>C (p.Leu2080=)
NM_001277115.2(DNAH11):c.6247G>A (p.Gly2083Arg)
NM_001277115.2(DNAH11):c.6250G>C (p.Asp2084His)
NM_001277115.2(DNAH11):c.6261A>G (p.Arg2087=)
NM_001277115.2(DNAH11):c.6273+12C>A
NM_001277115.2(DNAH11):c.6273+14A>G
NM_001277115.2(DNAH11):c.6273+15A>G
NM_001277115.2(DNAH11):c.6273+18T>A
NM_001277115.2(DNAH11):c.6273+8A>G
NM_001277115.2(DNAH11):c.6273+9A>C rs192777767
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.6274-11T>G
NM_001277115.2(DNAH11):c.6274-12T>G
NM_001277115.2(DNAH11):c.6274-14del
NM_001277115.2(DNAH11):c.6274-17A>G
NM_001277115.2(DNAH11):c.6274-5dup
NM_001277115.2(DNAH11):c.6279C>A (p.Leu2093=)
NM_001277115.2(DNAH11):c.6279C>T (p.Leu2093=)
NM_001277115.2(DNAH11):c.6283A>G (p.Arg2095Gly)
NM_001277115.2(DNAH11):c.6288A>C (p.Ala2096=)
NM_001277115.2(DNAH11):c.6294G>A (p.Arg2098=)
NM_001277115.2(DNAH11):c.6297T>C (p.Asp2099=)
NM_001277115.2(DNAH11):c.6303T>A (p.Asn2101Lys)
NM_001277115.2(DNAH11):c.6303T>C (p.Asn2101=) rs367634158
NM_001277115.2(DNAH11):c.6321T>C (p.Thr2107=)
NM_001277115.2(DNAH11):c.6324C>T (p.Asp2108=)
NM_001277115.2(DNAH11):c.632T>C (p.Leu211Pro)
NM_001277115.2(DNAH11):c.6334G>A (p.Val2112Met)
NM_001277115.2(DNAH11):c.6345C>A (p.Gly2115=)
NM_001277115.2(DNAH11):c.6345C>G (p.Gly2115=)
NM_001277115.2(DNAH11):c.634C>T (p.Leu212=)
NM_001277115.2(DNAH11):c.6354T>C (p.Gly2118=)
NM_001277115.2(DNAH11):c.6358C>T (p.Leu2120=)
NM_001277115.2(DNAH11):c.6360G>A (p.Leu2120=)
NM_001277115.2(DNAH11):c.6363T>C (p.Phe2121=) rs1465584153
NM_001277115.2(DNAH11):c.6368C>G (p.Ala2123Gly)
NM_001277115.2(DNAH11):c.6369C>A (p.Ala2123=)
NM_001277115.2(DNAH11):c.6388A>C (p.Arg2130=)
NM_001277115.2(DNAH11):c.6394C>G (p.Leu2132Val)
NM_001277115.2(DNAH11):c.639A>G (p.Pro213=) rs549859107
NM_001277115.2(DNAH11):c.63A>C (p.Leu21=)
NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val)
NM_001277115.2(DNAH11):c.6410T>C (p.Met2137Thr)
NM_001277115.2(DNAH11):c.6414C>T (p.Val2138=)
NM_001277115.2(DNAH11):c.6425C>T (p.Thr2142Ile)
NM_001277115.2(DNAH11):c.6430G>C (p.Glu2144Gln)
NM_001277115.2(DNAH11):c.6435C>T (p.Leu2145=)
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) rs727505321
NM_001277115.2(DNAH11):c.6446C>T (p.Pro2149Leu)
NM_001277115.2(DNAH11):c.6465C>A (p.Leu2155=)
NM_001277115.2(DNAH11):c.6468+10G>A
NM_001277115.2(DNAH11):c.6468+12A>G
NM_001277115.2(DNAH11):c.6468+16G>T
NM_001277115.2(DNAH11):c.6468+8G>A
NM_001277115.2(DNAH11):c.6468+8G>C
NM_001277115.2(DNAH11):c.6468+8_6468+10del
NM_001277115.2(DNAH11):c.6468+9A>G
NM_001277115.2(DNAH11):c.6469-16G>A
NM_001277115.2(DNAH11):c.6469-4G>A
NM_001277115.2(DNAH11):c.6486A>G (p.Glu2162=) rs2128479534
NM_001277115.2(DNAH11):c.6489G>A (p.Leu2163=)
NM_001277115.2(DNAH11):c.6490T>C (p.Leu2164=)
NM_001277115.2(DNAH11):c.6499C>T (p.Arg2167Trp)
NM_001277115.2(DNAH11):c.649G>A (p.Val217Ile)
NM_001277115.2(DNAH11):c.6507G>A (p.Ser2169=)
NM_001277115.2(DNAH11):c.6534A>C (p.Thr2178=)
NM_001277115.2(DNAH11):c.6534A>G (p.Thr2178=)
NM_001277115.2(DNAH11):c.6546+12T>C
NM_001277115.2(DNAH11):c.6546+13G>C
NM_001277115.2(DNAH11):c.6546+13G>T
NM_001277115.2(DNAH11):c.6546+18A>C rs752908677
NM_001277115.2(DNAH11):c.6546+20A>G
NM_001277115.2(DNAH11):c.6547-12C>A
NM_001277115.2(DNAH11):c.6547-15C>A
NM_001277115.2(DNAH11):c.6547-16T>C
NM_001277115.2(DNAH11):c.6547-17T>G
NM_001277115.2(DNAH11):c.6547-6C>G
NM_001277115.2(DNAH11):c.6547-6C>T rs866020416
NM_001277115.2(DNAH11):c.6547-8C>G
NM_001277115.2(DNAH11):c.6547-8C>T
NM_001277115.2(DNAH11):c.654A>G (p.Ala218=)
NM_001277115.2(DNAH11):c.6570A>G (p.Thr2190=)
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
NM_001277115.2(DNAH11):c.6577A>C (p.Asn2193His)
NM_001277115.2(DNAH11):c.6581T>G (p.Met2194Arg)
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=) rs200894470
NM_001277115.2(DNAH11):c.6594G>C (p.Pro2198=)
NM_001277115.2(DNAH11):c.6594G>T (p.Pro2198=)
NM_001277115.2(DNAH11):c.6603T>C (p.Asn2201=)
NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn)
NM_001277115.2(DNAH11):c.6611A>G (p.Asn2204Ser)
NM_001277115.2(DNAH11):c.6626C>A (p.Thr2209Lys)
NM_001277115.2(DNAH11):c.6630A>G (p.Thr2210=)
NM_001277115.2(DNAH11):c.6642T>C (p.Phe2214=)
NM_001277115.2(DNAH11):c.6652C>A (p.His2218Asn)
NM_001277115.2(DNAH11):c.6657T>G (p.His2219Gln)
NM_001277115.2(DNAH11):c.6669A>G (p.Glu2223=)
NM_001277115.2(DNAH11):c.6681C>T (p.Gly2227=)
NM_001277115.2(DNAH11):c.6683+10C>A
NM_001277115.2(DNAH11):c.6683+11C>A
NM_001277115.2(DNAH11):c.6683+17A>C
NM_001277115.2(DNAH11):c.6683+18G>C
NM_001277115.2(DNAH11):c.6683+8T>A
NM_001277115.2(DNAH11):c.6684-12A>T
NM_001277115.2(DNAH11):c.6684-13C>T
NM_001277115.2(DNAH11):c.6684-19C>G
NM_001277115.2(DNAH11):c.6684-5A>G
NM_001277115.2(DNAH11):c.6684-9A>G
NM_001277115.2(DNAH11):c.6687T>C (p.Ile2229=)
NM_001277115.2(DNAH11):c.6687T>G (p.Ile2229Met)
NM_001277115.2(DNAH11):c.6702T>C (p.Phe2234=)
NM_001277115.2(DNAH11):c.6719C>A (p.Ser2240Tyr)
NM_001277115.2(DNAH11):c.6728G>A (p.Arg2243Gln)
NM_001277115.2(DNAH11):c.6768A>T (p.Ile2256=)
NM_001277115.2(DNAH11):c.6771C>G (p.Val2257=)
NM_001277115.2(DNAH11):c.6774G>A (p.Leu2258=)
NM_001277115.2(DNAH11):c.6780C>G (p.Gly2260=)
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=)
NM_001277115.2(DNAH11):c.6781G>A (p.Asp2261Asn)
NM_001277115.2(DNAH11):c.6781G>C (p.Asp2261His)
NM_001277115.2(DNAH11):c.6789C>T (p.Asp2263=)
NM_001277115.2(DNAH11):c.678T>C (p.Asn226=)
NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu)
NM_001277115.2(DNAH11):c.6795G>A (p.Met2265Ile)
NM_001277115.2(DNAH11):c.6801T>A (p.Ile2267=)
NM_001277115.2(DNAH11):c.6801T>C (p.Ile2267=)
NM_001277115.2(DNAH11):c.6804A>G (p.Glu2268=)
NM_001277115.2(DNAH11):c.680G>C (p.Cys227Ser) rs140085329
NM_001277115.2(DNAH11):c.6813T>C (p.Asn2271=)
NM_001277115.2(DNAH11):c.6834+10A>C
NM_001277115.2(DNAH11):c.6834+11C>T
NM_001277115.2(DNAH11):c.6834+12C>G
NM_001277115.2(DNAH11):c.6834+15del
NM_001277115.2(DNAH11):c.6834+16G>C
NM_001277115.2(DNAH11):c.6834+16G>T
NM_001277115.2(DNAH11):c.6834+19C>T
NM_001277115.2(DNAH11):c.6834+20T>C
NM_001277115.2(DNAH11):c.6834+7A>G
NM_001277115.2(DNAH11):c.6835-12T>G
NM_001277115.2(DNAH11):c.6835-13_6835-12insACCTGGA
NM_001277115.2(DNAH11):c.6835-15T>G
NM_001277115.2(DNAH11):c.6835-15del
NM_001277115.2(DNAH11):c.6835-17T>C
NM_001277115.2(DNAH11):c.6835-5T>A
NM_001277115.2(DNAH11):c.6835-7A>G
NM_001277115.2(DNAH11):c.6835-8C>T
NM_001277115.2(DNAH11):c.6843C>T (p.Thr2281=)
NM_001277115.2(DNAH11):c.6846C>T (p.Leu2282=)
NM_001277115.2(DNAH11):c.6849C>T (p.Ala2283=)
NM_001277115.2(DNAH11):c.6860G>A (p.Arg2287His)
NM_001277115.2(DNAH11):c.6868C>T (p.Leu2290Phe)
NM_001277115.2(DNAH11):c.6870C>T (p.Leu2290=)
NM_001277115.2(DNAH11):c.6872C>T (p.Thr2291Ile)
NM_001277115.2(DNAH11):c.6877T>G (p.Phe2293Val)
NM_001277115.2(DNAH11):c.6889C>T (p.Leu2297=) rs886038471
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val) rs767273694
NM_001277115.2(DNAH11):c.6903T>C (p.His2301=)
NM_001277115.2(DNAH11):c.6906C>T (p.His2302=)
NM_001277115.2(DNAH11):c.690C>T (p.Asn230=)
NM_001277115.2(DNAH11):c.6911G>A (p.Arg2304Lys)
NM_001277115.2(DNAH11):c.6912G>A (p.Arg2304=)
NM_001277115.2(DNAH11):c.692+13A>G
NM_001277115.2(DNAH11):c.692+14C>G
NM_001277115.2(DNAH11):c.692+15A>C rs2128430914
NM_001277115.2(DNAH11):c.692+15A>G
NM_001277115.2(DNAH11):c.692+16A>G
NM_001277115.2(DNAH11):c.692+16A>T
NM_001277115.2(DNAH11):c.692+19T>C
NM_001277115.2(DNAH11):c.692+8A>T
NM_001277115.2(DNAH11):c.692+9C>G
NM_001277115.2(DNAH11):c.6924G>A (p.Pro2308=)
NM_001277115.2(DNAH11):c.693-14C>T
NM_001277115.2(DNAH11):c.693-15T>C
NM_001277115.2(DNAH11):c.693-15_693-11del
NM_001277115.2(DNAH11):c.693-16A>G
NM_001277115.2(DNAH11):c.693-17T>C
NM_001277115.2(DNAH11):c.693-20T>C
NM_001277115.2(DNAH11):c.693-5T>C
NM_001277115.2(DNAH11):c.6931G>C (p.Val2311Leu)
NM_001277115.2(DNAH11):c.6939A>G (p.Arg2313=)
NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly)
NM_001277115.2(DNAH11):c.6951G>C (p.Leu2317=)
NM_001277115.2(DNAH11):c.6957G>C (p.Val2319=)
NM_001277115.2(DNAH11):c.6960C>T (p.Asn2320=)
NM_001277115.2(DNAH11):c.6963A>G (p.Pro2321=)
NM_001277115.2(DNAH11):c.6975C>A (p.Gly2325=)
NM_001277115.2(DNAH11):c.6983+13_6983+16del
NM_001277115.2(DNAH11):c.6983+16T>G
NM_001277115.2(DNAH11):c.6983+17G>C
NM_001277115.2(DNAH11):c.6983+18T>G
NM_001277115.2(DNAH11):c.6983+8T>C
NM_001277115.2(DNAH11):c.6984-14G>A
NM_001277115.2(DNAH11):c.6984-18T>C
NM_001277115.2(DNAH11):c.6984-8C>G rs774585659
NM_001277115.2(DNAH11):c.6984-8C>T
NM_001277115.2(DNAH11):c.6992C>G (p.Ala2331Gly)
NM_001277115.2(DNAH11):c.6993C>T (p.Ala2331=)
NM_001277115.2(DNAH11):c.7013G>A (p.Arg2338Gln)
NM_001277115.2(DNAH11):c.7014G>A (p.Arg2338=)
NM_001277115.2(DNAH11):c.7015C>T (p.His2339Tyr)
NM_001277115.2(DNAH11):c.7020A>G (p.Gln2340=)
NM_001277115.2(DNAH11):c.7036T>C (p.Leu2346=)
NM_001277115.2(DNAH11):c.7041T>G (p.Thr2347=)
NM_001277115.2(DNAH11):c.7053T>C (p.Asp2351=)
NM_001277115.2(DNAH11):c.7055A>T (p.Lys2352Ile)
NM_001277115.2(DNAH11):c.7056A>G (p.Lys2352=)
NM_001277115.2(DNAH11):c.7059T>C (p.Tyr2353=)
NM_001277115.2(DNAH11):c.7062C>T (p.Val2354=)
NM_001277115.2(DNAH11):c.7068A>G (p.Ala2356=)
NM_001277115.2(DNAH11):c.7104C>A (p.Ile2368=)
NM_001277115.2(DNAH11):c.7104C>T (p.Ile2368=)
NM_001277115.2(DNAH11):c.7112T>C (p.Ile2371Thr)
NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg)
NM_001277115.2(DNAH11):c.7116T>C (p.Pro2372=)
NM_001277115.2(DNAH11):c.7122T>C (p.Ser2374=)
NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val)
NM_001277115.2(DNAH11):c.712A>G (p.Ile238Val)
NM_001277115.2(DNAH11):c.7131G>T (p.Val2377=)
NM_001277115.2(DNAH11):c.7134+11G>A
NM_001277115.2(DNAH11):c.7134+12G>A
NM_001277115.2(DNAH11):c.7134+15A>G
NM_001277115.2(DNAH11):c.7134+20A>G
NM_001277115.2(DNAH11):c.7135-11T>C
NM_001277115.2(DNAH11):c.7135-11T>G
NM_001277115.2(DNAH11):c.7135-13del
NM_001277115.2(DNAH11):c.7135-14T>G rs1784841830
NM_001277115.2(DNAH11):c.7135-16A>G
NM_001277115.2(DNAH11):c.7135-17T>G
NM_001277115.2(DNAH11):c.7135-6C>A
NM_001277115.2(DNAH11):c.7135-7T>C
NM_001277115.2(DNAH11):c.7137T>G (p.Thr2379=)
NM_001277115.2(DNAH11):c.7143T>C (p.Cys2381=)
NM_001277115.2(DNAH11):c.7146T>C (p.Val2382=)
NM_001277115.2(DNAH11):c.7149T>G (p.Leu2383=)
NM_001277115.2(DNAH11):c.715A>G (p.Ile239Val)
NM_001277115.2(DNAH11):c.7164G>A (p.Leu2388=)
NM_001277115.2(DNAH11):c.7169C>T (p.Pro2390Leu) rs1395315449
NM_001277115.2(DNAH11):c.7179A>C (p.Val2393=)
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
NM_001277115.2(DNAH11):c.7191C>T (p.Ser2397=)
NM_001277115.2(DNAH11):c.7200A>G (p.Glu2400=)
NM_001277115.2(DNAH11):c.7206T>C (p.Tyr2402=)
NM_001277115.2(DNAH11):c.7212C>T (p.Val2404=) rs777174573
NM_001277115.2(DNAH11):c.7221A>T (p.Val2407=)
NM_001277115.2(DNAH11):c.7232T>G (p.Ile2411Ser)
NM_001277115.2(DNAH11):c.7240T>C (p.Phe2414Leu)
NM_001277115.2(DNAH11):c.7245A>G (p.Gly2415=)
NM_001277115.2(DNAH11):c.7254G>A (p.Leu2418=)
NM_001277115.2(DNAH11):c.7257A>G (p.Leu2419=) rs1311166038
NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)
NM_001277115.2(DNAH11):c.7266+14T>C
NM_001277115.2(DNAH11):c.7266+18_7266+19del
NM_001277115.2(DNAH11):c.7266+19T>A
NM_001277115.2(DNAH11):c.7266+19T>C
NM_001277115.2(DNAH11):c.7267-16C>A
NM_001277115.2(DNAH11):c.7267-16del
NM_001277115.2(DNAH11):c.7267-20A>G
NM_001277115.2(DNAH11):c.7267-5C>T
NM_001277115.2(DNAH11):c.7267-6C>T
NM_001277115.2(DNAH11):c.7269T>A (p.Ile2423=)
NM_001277115.2(DNAH11):c.7275T>C (p.Asp2425=)
NM_001277115.2(DNAH11):c.727A>T (p.Ile243Phe) rs189000268
NM_001277115.2(DNAH11):c.7290C>G (p.Phe2430Leu) rs12536928
NM_001277115.2(DNAH11):c.729T>A (p.Ile243=)
NM_001277115.2(DNAH11):c.7308A>G (p.Lys2436=) rs1459663021
NM_001277115.2(DNAH11):c.7309G>C (p.Glu2437Gln)
NM_001277115.2(DNAH11):c.7319C>T (p.Ala2440Val)
NM_001277115.2(DNAH11):c.7320A>G (p.Ala2440=)
NM_001277115.2(DNAH11):c.7323G>A (p.Val2441=)
NM_001277115.2(DNAH11):c.732A>G (p.Glu244=)
NM_001277115.2(DNAH11):c.7335G>T (p.Ser2445=) rs11768670
NM_001277115.2(DNAH11):c.7340G>C (p.Gly2447Ala)
NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn)
NM_001277115.2(DNAH11):c.73G>C (p.Ala25Pro)
NM_001277115.2(DNAH11):c.7400A>G (p.Lys2467Arg)
NM_001277115.2(DNAH11):c.7408C>G (p.Gln2470Glu)
NM_001277115.2(DNAH11):c.7410G>A (p.Gln2470=)
NM_001277115.2(DNAH11):c.7435C>T (p.Leu2479=)
NM_001277115.2(DNAH11):c.7437G>T (p.Leu2479=)
NM_001277115.2(DNAH11):c.7440+14A>C
NM_001277115.2(DNAH11):c.7440+17T>C
NM_001277115.2(DNAH11):c.7440+7G>T rs573260062
NM_001277115.2(DNAH11):c.7440+8dup
NM_001277115.2(DNAH11):c.7440+9G>A
NM_001277115.2(DNAH11):c.7441-19A>T
NM_001277115.2(DNAH11):c.7441-20C>T
NM_001277115.2(DNAH11):c.7441-6T>A
NM_001277115.2(DNAH11):c.7443A>G (p.Thr2481=)
NM_001277115.2(DNAH11):c.7447C>T (p.Leu2483Phe)
NM_001277115.2(DNAH11):c.7449C>G (p.Leu2483=)
NM_001277115.2(DNAH11):c.7458A>T (p.Thr2486=)
NM_001277115.2(DNAH11):c.7469C>T (p.Ala2490Val)
NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro) rs369438218
NM_001277115.2(DNAH11):c.7474C>A (p.Leu2492Ile)
NM_001277115.2(DNAH11):c.7485C>T (p.Phe2495=) rs771739801
NM_001277115.2(DNAH11):c.7492T>C (p.Leu2498=)
NM_001277115.2(DNAH11):c.7515T>C (p.Pro2505=)
NM_001277115.2(DNAH11):c.7518A>G (p.Leu2506=)
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile) rs1259559217
NM_001277115.2(DNAH11):c.7526T>C (p.Val2509Ala)
NM_001277115.2(DNAH11):c.7536A>T (p.Ala2512=)
NM_001277115.2(DNAH11):c.7560A>C (p.Val2520=)
NM_001277115.2(DNAH11):c.7560A>T (p.Val2520=)
NM_001277115.2(DNAH11):c.7562G>C (p.Gly2521Ala)
NM_001277115.2(DNAH11):c.7563T>G (p.Gly2521=)
NM_001277115.2(DNAH11):c.7569A>G (p.Thr2523=)
NM_001277115.2(DNAH11):c.7581C>G (p.Leu2527=)
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
NM_001277115.2(DNAH11):c.7585G>C (p.Glu2529Gln)
NM_001277115.2(DNAH11):c.7589A>G (p.Asp2530Gly)
NM_001277115.2(DNAH11):c.7620C>T (p.Tyr2540=)
NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr)
NM_001277115.2(DNAH11):c.7645+10C>T
NM_001277115.2(DNAH11):c.7645+12del
NM_001277115.2(DNAH11):c.7645+8C>A
NM_001277115.2(DNAH11):c.7645+9A>C
NM_001277115.2(DNAH11):c.7646-11G>A
NM_001277115.2(DNAH11):c.7646-11G>T
NM_001277115.2(DNAH11):c.7646-14T>C
NM_001277115.2(DNAH11):c.7646-15A>G
NM_001277115.2(DNAH11):c.7646-17AT[2]
NM_001277115.2(DNAH11):c.7646-20G>A
NM_001277115.2(DNAH11):c.7646-20G>C
NM_001277115.2(DNAH11):c.7646-7A>C
NM_001277115.2(DNAH11):c.7646-7A>T
NM_001277115.2(DNAH11):c.7653T>A (p.Leu2551=) rs541595891
NM_001277115.2(DNAH11):c.7653T>C (p.Leu2551=)
NM_001277115.2(DNAH11):c.7659A>G (p.Lys2553=)
NM_001277115.2(DNAH11):c.765A>G (p.Gln255=)
NM_001277115.2(DNAH11):c.7660C>A (p.Pro2554Thr)
NM_001277115.2(DNAH11):c.7665A>G (p.Leu2555=)
NM_001277115.2(DNAH11):c.7679G>C (p.Gly2560Ala)
NM_001277115.2(DNAH11):c.7680T>C (p.Gly2560=)
NM_001277115.2(DNAH11):c.7688A>G (p.Tyr2563Cys)
NM_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg)
NM_001277115.2(DNAH11):c.7697G>A (p.Gly2566Glu)
NM_001277115.2(DNAH11):c.7699G>C (p.Gly2567Arg)
NM_001277115.2(DNAH11):c.769A>G (p.Ile257Val)
NM_001277115.2(DNAH11):c.7704T>C (p.Asn2568=)
NM_001277115.2(DNAH11):c.7731C>T (p.Asp2577=)
NM_001277115.2(DNAH11):c.7748T>G (p.Val2583Gly)
NM_001277115.2(DNAH11):c.7749G>C (p.Val2583=)
NM_001277115.2(DNAH11):c.774A>G (p.Ile258Met)
NM_001277115.2(DNAH11):c.7758T>C (p.Tyr2586=)
NM_001277115.2(DNAH11):c.7761C>A (p.Gly2587=)
NM_001277115.2(DNAH11):c.7764C>T (p.Thr2588=)
NM_001277115.2(DNAH11):c.7788G>A (p.Arg2596=)
NM_001277115.2(DNAH11):c.7797T>A (p.Ile2599=)
NM_001277115.2(DNAH11):c.7811+11C>T
NM_001277115.2(DNAH11):c.7811+12T>A
NM_001277115.2(DNAH11):c.7811+13C>G
NM_001277115.2(DNAH11):c.7811+15G>T
NM_001277115.2(DNAH11):c.7811+17A>G
NM_001277115.2(DNAH11):c.7811+18del
NM_001277115.2(DNAH11):c.7811+7A>T rs1785740654
NM_001277115.2(DNAH11):c.7811+9G>A
NM_001277115.2(DNAH11):c.7811+9G>C
NM_001277115.2(DNAH11):c.7812-11_7812-10del
NM_001277115.2(DNAH11):c.7812-12T>C
NM_001277115.2(DNAH11):c.7812-19T>C
NM_001277115.2(DNAH11):c.7812-6T>C
NM_001277115.2(DNAH11):c.7812-7C>G
NM_001277115.2(DNAH11):c.7812-9G>T
NM_001277115.2(DNAH11):c.7818T>C (p.Asp2606=) rs1049247750
NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys)
NM_001277115.2(DNAH11):c.7836T>G (p.Leu2612=)
NM_001277115.2(DNAH11):c.7840G>C (p.Glu2614Gln)
NM_001277115.2(DNAH11):c.7845C>A (p.Ile2615=)
NM_001277115.2(DNAH11):c.784T>C (p.Ser262Pro)
NM_001277115.2(DNAH11):c.7850A>G (p.Asn2617Ser)
NM_001277115.2(DNAH11):c.7854C>T (p.Cys2618=)
NM_001277115.2(DNAH11):c.7866C>T (p.Ala2622=)
NM_001277115.2(DNAH11):c.7877C>T (p.Pro2626Leu)
NM_001277115.2(DNAH11):c.7878G>A (p.Pro2626=)
NM_001277115.2(DNAH11):c.7887C>T (p.Gly2629=)
NM_001277115.2(DNAH11):c.789G>T (p.Val263=)
NM_001277115.2(DNAH11):c.78C>G (p.Gly26=)
NM_001277115.2(DNAH11):c.7906A>C (p.Arg2636=)
NM_001277115.2(DNAH11):c.790C>A (p.Gln264Lys)
NM_001277115.2(DNAH11):c.7914+11G>C
NM_001277115.2(DNAH11):c.7914+13A>C
NM_001277115.2(DNAH11):c.7914+18G>C
NM_001277115.2(DNAH11):c.7914+18_7914+20del rs751334482
NM_001277115.2(DNAH11):c.7914+19C>T
NM_001277115.2(DNAH11):c.7914+8G>A
NM_001277115.2(DNAH11):c.7915-13C>A
NM_001277115.2(DNAH11):c.7915-16T>G
NM_001277115.2(DNAH11):c.7915-17T>C
NM_001277115.2(DNAH11):c.7915-19T>A
NM_001277115.2(DNAH11):c.7915-19T>C
NM_001277115.2(DNAH11):c.7915-8C>A
NM_001277115.2(DNAH11):c.7920T>G (p.His2640Gln)
NM_001277115.2(DNAH11):c.7922T>C (p.Phe2641Ser)
NM_001277115.2(DNAH11):c.7928T>C (p.Val2643Ala)
NM_001277115.2(DNAH11):c.7954G>A (p.Asp2652Asn)
NM_001277115.2(DNAH11):c.7962A>G (p.Leu2654=) rs747907976
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
NM_001277115.2(DNAH11):c.799T>C (p.Leu267=)
NM_001277115.2(DNAH11):c.8008G>T (p.Ala2670Ser) rs1393179441
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.2(DNAH11):c.8023A>T (p.Ile2675Phe) rs72657364
NM_001277115.2(DNAH11):c.8028C>T (p.Leu2676=)
NM_001277115.2(DNAH11):c.8036G>C (p.Gly2679Ala)
NM_001277115.2(DNAH11):c.8045T>G (p.Leu2682Trp)
NM_001277115.2(DNAH11):c.8050C>G (p.Gln2684Glu)
NM_001277115.2(DNAH11):c.8055A>C (p.Ala2685=)
NM_001277115.2(DNAH11):c.8076A>G (p.Thr2692=)
NM_001277115.2(DNAH11):c.8077A>G (p.Met2693Val)
NM_001277115.2(DNAH11):c.8082G>A (p.Met2694Ile)
NM_001277115.2(DNAH11):c.808C>T (p.Leu270Phe)
NM_001277115.2(DNAH11):c.8100G>T (p.Thr2700=) rs72657365
NM_001277115.2(DNAH11):c.8115C>T (p.His2705=)
NM_001277115.2(DNAH11):c.8118C>T (p.Tyr2706=)
NM_001277115.2(DNAH11):c.812A>G (p.His271Arg)
NM_001277115.2(DNAH11):c.8143A>T (p.Asn2715Tyr)
NM_001277115.2(DNAH11):c.8147T>C (p.Val2716Ala)
NM_001277115.2(DNAH11):c.8154+10C>G
NM_001277115.2(DNAH11):c.8154+12G>C
NM_001277115.2(DNAH11):c.8154+13C>T
NM_001277115.2(DNAH11):c.8154+15C>T
NM_001277115.2(DNAH11):c.8154+17A>G
NM_001277115.2(DNAH11):c.8154+18T>C
NM_001277115.2(DNAH11):c.8154+19G>T
NM_001277115.2(DNAH11):c.8154+8G>C
NM_001277115.2(DNAH11):c.8154+9A>G
NM_001277115.2(DNAH11):c.8155-15A>G
NM_001277115.2(DNAH11):c.8155-16C>T
NM_001277115.2(DNAH11):c.8155-18C>T
NM_001277115.2(DNAH11):c.8155-4G>A
NM_001277115.2(DNAH11):c.8155-5T>C
NM_001277115.2(DNAH11):c.8155-9G>A rs539005820
NM_001277115.2(DNAH11):c.8174C>A (p.Pro2725His)
NM_001277115.2(DNAH11):c.8178G>A (p.Glu2726=)
NM_001277115.2(DNAH11):c.8184A>G (p.Leu2728=)
NM_001277115.2(DNAH11):c.8193A>C (p.Pro2731=)
NM_001277115.2(DNAH11):c.8207A>G (p.His2736Arg) rs956981336
NM_001277115.2(DNAH11):c.820C>T (p.Pro274Ser)
NM_001277115.2(DNAH11):c.8211G>C (p.Leu2737=)
NM_001277115.2(DNAH11):c.8227G>A (p.Ala2743Thr)
NM_001277115.2(DNAH11):c.8229C>T (p.Ala2743=)
NM_001277115.2(DNAH11):c.8231G>A (p.Arg2744His)
NM_001277115.2(DNAH11):c.8248C>T (p.Leu2750=)
NM_001277115.2(DNAH11):c.8286A>G (p.Arg2762=)
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
NM_001277115.2(DNAH11):c.8316+10T>C
NM_001277115.2(DNAH11):c.8316+16T>C
NM_001277115.2(DNAH11):c.8316+17C>T
NM_001277115.2(DNAH11):c.8316+17del
NM_001277115.2(DNAH11):c.8316+6_8316+21del
NM_001277115.2(DNAH11):c.8317-10C>T
NM_001277115.2(DNAH11):c.8317-12C>T
NM_001277115.2(DNAH11):c.8317-14_8317-13del
NM_001277115.2(DNAH11):c.8317-16_8317-15del
NM_001277115.2(DNAH11):c.8317-18C>G
NM_001277115.2(DNAH11):c.8317-6C>T
NM_001277115.2(DNAH11):c.8317-8T>C
NM_001277115.2(DNAH11):c.8317-9A>G
NM_001277115.2(DNAH11):c.8319T>C (p.Gly2773=)
NM_001277115.2(DNAH11):c.8321T>C (p.Ile2774Thr)
NM_001277115.2(DNAH11):c.8343A>C (p.Gln2781His)
NM_001277115.2(DNAH11):c.8346G>A (p.Gln2782=)
NM_001277115.2(DNAH11):c.8349C>T (p.Pro2783=) rs1330210517
NM_001277115.2(DNAH11):c.8367T>A (p.Phe2789Leu)
NM_001277115.2(DNAH11):c.8374A>G (p.Arg2792Gly)
NM_001277115.2(DNAH11):c.8394C>T (p.Tyr2798=)
NM_001277115.2(DNAH11):c.8395A>G (p.Met2799Val)
NM_001277115.2(DNAH11):c.8399C>T (p.Pro2800Leu)
NM_001277115.2(DNAH11):c.8409C>T (p.Asp2803=) rs868804543
NM_001277115.2(DNAH11):c.8421G>C (p.Leu2807=)
NM_001277115.2(DNAH11):c.8424G>A (p.Lys2808=)
NM_001277115.2(DNAH11):c.8427G>C (p.Thr2809=)
NM_001277115.2(DNAH11):c.8427G>T (p.Thr2809=)
NM_001277115.2(DNAH11):c.8448C>T (p.Asp2816=)
NM_001277115.2(DNAH11):c.8450A>C (p.Asn2817Thr)
NM_001277115.2(DNAH11):c.8459A>G (p.Glu2820Gly)
NM_001277115.2(DNAH11):c.8469T>A (p.Ala2823=)
NM_001277115.2(DNAH11):c.846G>A (p.Met282Ile)
NM_001277115.2(DNAH11):c.8473A>G (p.Met2825Val)
NM_001277115.2(DNAH11):c.8486T>G (p.Leu2829Trp)
NM_001277115.2(DNAH11):c.849G>A (p.Met283Ile)
NM_001277115.2(DNAH11):c.84G>A (p.Glu28=)
NM_001277115.2(DNAH11):c.850A>C (p.Arg284=)
NM_001277115.2(DNAH11):c.8510+10C>T
NM_001277115.2(DNAH11):c.8510+13G>A
NM_001277115.2(DNAH11):c.8510+14T>A
NM_001277115.2(DNAH11):c.8510+17C>G rs374586159
NM_001277115.2(DNAH11):c.8510+17C>T
NM_001277115.2(DNAH11):c.8510+18G>A rs756000648
NM_001277115.2(DNAH11):c.8510+18G>T
NM_001277115.2(DNAH11):c.8511-14del
NM_001277115.2(DNAH11):c.8511-15G>A rs111471486
NM_001277115.2(DNAH11):c.8511-15G>T
NM_001277115.2(DNAH11):c.8511-17G>T
NM_001277115.2(DNAH11):c.8511-18G>T
NM_001277115.2(DNAH11):c.8511-5C>T
NM_001277115.2(DNAH11):c.8511-8T>C
NM_001277115.2(DNAH11):c.8517C>T (p.Arg2839=)
NM_001277115.2(DNAH11):c.851G>T (p.Arg284Met)
NM_001277115.2(DNAH11):c.852G>A (p.Arg284=)
NM_001277115.2(DNAH11):c.852G>T (p.Arg284Ser)
NM_001277115.2(DNAH11):c.8533C>A (p.Arg2845=) rs121908854
NM_001277115.2(DNAH11):c.8539C>T (p.Pro2847Ser)
NM_001277115.2(DNAH11):c.8553T>G (p.Ala2851=) rs2128492596
NM_001277115.2(DNAH11):c.8559G>A (p.Leu2853=)
NM_001277115.2(DNAH11):c.8598G>A (p.Arg2866=)
NM_001277115.2(DNAH11):c.8610C>T (p.Tyr2870=)
NM_001277115.2(DNAH11):c.8614C>T (p.Arg2872Cys)
NM_001277115.2(DNAH11):c.8619C>T (p.Gly2873=)
NM_001277115.2(DNAH11):c.8640T>C (p.Thr2880=)
NM_001277115.2(DNAH11):c.8643G>C (p.Leu2881=)
NM_001277115.2(DNAH11):c.8646C>A (p.Thr2882=)
NM_001277115.2(DNAH11):c.8646C>T (p.Thr2882=)
NM_001277115.2(DNAH11):c.864G>A (p.Leu288=) rs878854447
NM_001277115.2(DNAH11):c.8652C>T (p.Gly2884=)
NM_001277115.2(DNAH11):c.8654A>T (p.Tyr2885Phe)
NM_001277115.2(DNAH11):c.8658A>C (p.Gly2886=)
NM_001277115.2(DNAH11):c.8673+16A>G
NM_001277115.2(DNAH11):c.8673+18G>A
NM_001277115.2(DNAH11):c.8673+7C>G
NM_001277115.2(DNAH11):c.8673+9A>G
NM_001277115.2(DNAH11):c.8674-10T>C
NM_001277115.2(DNAH11):c.8674-12C>G
NM_001277115.2(DNAH11):c.8674-12C>T
NM_001277115.2(DNAH11):c.8674-13C>A
NM_001277115.2(DNAH11):c.8674-17A>G
NM_001277115.2(DNAH11):c.8674-20G>A
NM_001277115.2(DNAH11):c.8674-20G>C
NM_001277115.2(DNAH11):c.8674-6T>C
NM_001277115.2(DNAH11):c.8674-8C>A
NM_001277115.2(DNAH11):c.8680C>A (p.Leu2894Ile)
NM_001277115.2(DNAH11):c.8684C>T (p.Ala2895Val) rs530087550
NM_001277115.2(DNAH11):c.8687A>G (p.Asn2896Ser)
NM_001277115.2(DNAH11):c.8689T>C (p.Leu2897=) rs1583656714
NM_001277115.2(DNAH11):c.8706A>G (p.Gly2902=)
NM_001277115.2(DNAH11):c.870C>T (p.Cys290=)
NM_001277115.2(DNAH11):c.8715C>T (p.Asn2905=)
NM_001277115.2(DNAH11):c.8716A>G (p.Met2906Val)
NM_001277115.2(DNAH11):c.8730C>T (p.Phe2910=)
NM_001277115.2(DNAH11):c.8736G>C (p.Leu2912=)
NM_001277115.2(DNAH11):c.8739A>T (p.Thr2913=)
NM_001277115.2(DNAH11):c.8751T>A (p.Val2917=) rs1786323159
NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val)
NM_001277115.2(DNAH11):c.876T>C (p.Tyr292=) rs2128431283
NM_001277115.2(DNAH11):c.8778T>C (p.Ile2926=)
NM_001277115.2(DNAH11):c.8797+12A>C rs372924996
NM_001277115.2(DNAH11):c.8797+12A>G rs372924996
NM_001277115.2(DNAH11):c.8797+14C>T
NM_001277115.2(DNAH11):c.8797+16C>T
NM_001277115.2(DNAH11):c.8797+17A>G
NM_001277115.2(DNAH11):c.8797+19T>G
NM_001277115.2(DNAH11):c.8798-11C>A
NM_001277115.2(DNAH11):c.8798-13T>C
NM_001277115.2(DNAH11):c.8798-14A>G
NM_001277115.2(DNAH11):c.8798-15C>T
NM_001277115.2(DNAH11):c.8798-17C>T
NM_001277115.2(DNAH11):c.8798-18A>G
NM_001277115.2(DNAH11):c.8805C>A (p.Ile2935=)
NM_001277115.2(DNAH11):c.8808A>C (p.Pro2936=)
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn) rs538735006
NM_001277115.2(DNAH11):c.8814G>C (p.Leu2938=)
NM_001277115.2(DNAH11):c.882+14C>T
NM_001277115.2(DNAH11):c.882+9A>C
NM_001277115.2(DNAH11):c.8820C>T (p.Ser2940=)
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn) rs776368544
NM_001277115.2(DNAH11):c.8827G>C (p.Asp2943His)
NM_001277115.2(DNAH11):c.883-11C>A
NM_001277115.2(DNAH11):c.883-11C>T
NM_001277115.2(DNAH11):c.883-13T>A
NM_001277115.2(DNAH11):c.883-19T>C
NM_001277115.2(DNAH11):c.883-4T>C
NM_001277115.2(DNAH11):c.883-4T>G
NM_001277115.2(DNAH11):c.8840T>C (p.Ile2947Thr)
NM_001277115.2(DNAH11):c.8842A>G (p.Ile2948Val)
NM_001277115.2(DNAH11):c.8886C>T (p.Asp2962=)
NM_001277115.2(DNAH11):c.8889C>T (p.Ser2963=)
NM_001277115.2(DNAH11):c.8895A>G (p.Glu2965=)
NM_001277115.2(DNAH11):c.8898C>T (p.Asn2966=)
NM_001277115.2(DNAH11):c.891A>T (p.Ala297=)
NM_001277115.2(DNAH11):c.8920A>C (p.Arg2974=)
NM_001277115.2(DNAH11):c.8925G>T (p.Val2975=)
NM_001277115.2(DNAH11):c.8928A>T (p.Arg2976=)
NM_001277115.2(DNAH11):c.8931A>G (p.Leu2977=)
NM_001277115.2(DNAH11):c.8940+15C>T
NM_001277115.2(DNAH11):c.8940+20T>C
NM_001277115.2(DNAH11):c.8940+9T>G
NM_001277115.2(DNAH11):c.8941-13C>T
NM_001277115.2(DNAH11):c.8941-14C>T
NM_001277115.2(DNAH11):c.8941-8C>T
NM_001277115.2(DNAH11):c.8958T>G (p.Ser2986=)
NM_001277115.2(DNAH11):c.8C>A (p.Ala3Asp)
NM_001277115.2(DNAH11):c.8C>T (p.Ala3Val)
NM_001277115.2(DNAH11):c.9003C>T (p.Ala3001=)
NM_001277115.2(DNAH11):c.9013T>A (p.Cys3005Ser) rs369196786
NM_001277115.2(DNAH11):c.9019G>A (p.Ala3007Thr)
NM_001277115.2(DNAH11):c.9021T>C (p.Ala3007=)
NM_001277115.2(DNAH11):c.9023T>C (p.Ile3008Thr)
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu) rs749849152
NM_001277115.2(DNAH11):c.9045G>A (p.Pro3015=)
NM_001277115.2(DNAH11):c.9053C>T (p.Ala3018Val)
NM_001277115.2(DNAH11):c.9054T>C (p.Ala3018=)
NM_001277115.2(DNAH11):c.9055C>G (p.Leu3019Val)
NM_001277115.2(DNAH11):c.905A>C (p.Lys302Thr)
NM_001277115.2(DNAH11):c.9060C>G (p.Val3020=)
NM_001277115.2(DNAH11):c.9078C>T (p.Phe3026=)
NM_001277115.2(DNAH11):c.9088A>G (p.Thr3030Ala)
NM_001277115.2(DNAH11):c.9102+13A>T
NM_001277115.2(DNAH11):c.9102+14G>T
NM_001277115.2(DNAH11):c.9102+15C>T
NM_001277115.2(DNAH11):c.9102+19C>A
NM_001277115.2(DNAH11):c.9102+19C>T
NM_001277115.2(DNAH11):c.9102+20G>T
NM_001277115.2(DNAH11):c.9102+8G>T
NM_001277115.2(DNAH11):c.9103-10G>A
NM_001277115.2(DNAH11):c.9103-13T>C
NM_001277115.2(DNAH11):c.9103-6T>C
NM_001277115.2(DNAH11):c.9103-8_9103-7del
NM_001277115.2(DNAH11):c.9121A>T (p.Ile3041Phe)
NM_001277115.2(DNAH11):c.9133A>G (p.Met3045Val)
NM_001277115.2(DNAH11):c.9141T>C (p.His3047=)
NM_001277115.2(DNAH11):c.9145C>T (p.His3049Tyr)
NM_001277115.2(DNAH11):c.9147C>T (p.His3049=)
NM_001277115.2(DNAH11):c.9151A>G (p.Thr3051Ala)
NM_001277115.2(DNAH11):c.9168T>C (p.Ser3056=)
NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr)
NM_001277115.2(DNAH11):c.9177T>C (p.Tyr3059=)
NM_001277115.2(DNAH11):c.918C>T (p.Ile306=)
NM_001277115.2(DNAH11):c.9219T>C (p.Ser3073=)
NM_001277115.2(DNAH11):c.921G>A (p.Leu307=)
NM_001277115.2(DNAH11):c.9228A>G (p.Glu3076=)
NM_001277115.2(DNAH11):c.9241T>G (p.Phe3081Val)
NM_001277115.2(DNAH11):c.9261G>A (p.Lys3087=)
NM_001277115.2(DNAH11):c.9269A>G (p.Asn3090Ser)
NM_001277115.2(DNAH11):c.9273G>A (p.Glu3091=)
NM_001277115.2(DNAH11):c.9276A>G (p.Val3092=)
NM_001277115.2(DNAH11):c.9294C>T (p.Arg3098=) rs562256432
NM_001277115.2(DNAH11):c.9297G>A (p.Leu3099=)
NM_001277115.2(DNAH11):c.9300G>A (p.Val3100=)
NM_001277115.2(DNAH11):c.9300G>C (p.Val3100=)
NM_001277115.2(DNAH11):c.9301A>G (p.Asn3101Asp)
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=) rs886062181
NM_001277115.2(DNAH11):c.9315G>A (p.Lys3105=)
NM_001277115.2(DNAH11):c.9318A>G (p.Leu3106=)
NM_001277115.2(DNAH11):c.9324C>T (p.Thr3108=)
NM_001277115.2(DNAH11):c.9333T>G (p.Ser3111=)
NM_001277115.2(DNAH11):c.9336+12A>C
NM_001277115.2(DNAH11):c.9336+15T>C
NM_001277115.2(DNAH11):c.9336+17T>G
NM_001277115.2(DNAH11):c.9336+20T>C
NM_001277115.2(DNAH11):c.9337-13A>G rs2127982479
NM_001277115.2(DNAH11):c.9337-5T>A
NM_001277115.2(DNAH11):c.9337-7G>T
NM_001277115.2(DNAH11):c.9342A>G (p.Gly3114=)
NM_001277115.2(DNAH11):c.9345T>C (p.Asp3115=)
NM_001277115.2(DNAH11):c.9363C>G (p.Ala3121=) rs763055953
NM_001277115.2(DNAH11):c.9366T>C (p.Ser3122=) rs886038476
NM_001277115.2(DNAH11):c.9375C>T (p.Ala3125=)
NM_001277115.2(DNAH11):c.9378G>C (p.Glu3126Asp)
NM_001277115.2(DNAH11):c.9393T>C (p.Asn3131=)
NM_001277115.2(DNAH11):c.9396T>C (p.His3132=)
NM_001277115.2(DNAH11):c.93C>T (p.Gly31=) rs1219460682
NM_001277115.2(DNAH11):c.9402C>T (p.Ala3134=) rs148800414
NM_001277115.2(DNAH11):c.9403G>A (p.Glu3135Lys)
NM_001277115.2(DNAH11):c.9409C>T (p.Leu3137=)
NM_001277115.2(DNAH11):c.9411G>T (p.Leu3137=)
NM_001277115.2(DNAH11):c.9423C>T (p.Ile3141=)
NM_001277115.2(DNAH11):c.9424G>A (p.Gly3142Ser)
NM_001277115.2(DNAH11):c.9426C>T (p.Gly3142=)
NM_001277115.2(DNAH11):c.9429T>C (p.Leu3143=)
NM_001277115.2(DNAH11):c.9447C>G (p.Ser3149Arg)
NM_001277115.2(DNAH11):c.9448C>A (p.Arg3150=)
NM_001277115.2(DNAH11):c.9453A>G (p.Glu3151=)
NM_001277115.2(DNAH11):c.9474G>A (p.Glu3158=)
NM_001277115.2(DNAH11):c.9480A>T (p.Arg3160=)
NM_001277115.2(DNAH11):c.9483+14C>G rs776804231
NM_001277115.2(DNAH11):c.9483+18A>G
NM_001277115.2(DNAH11):c.9483+7C>T
NM_001277115.2(DNAH11):c.9484-12C>T
NM_001277115.2(DNAH11):c.9484-7T>C
NM_001277115.2(DNAH11):c.9484-7del
NM_001277115.2(DNAH11):c.9493A>G (p.Ile3165Val)
NM_001277115.2(DNAH11):c.9498G>A (p.Gln3166=)
NM_001277115.2(DNAH11):c.950C>G (p.Thr317Ser)
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
NM_001277115.2(DNAH11):c.9512A>G (p.Gln3171Arg)
NM_001277115.2(DNAH11):c.9525A>T (p.Glu3175Asp)
NM_001277115.2(DNAH11):c.9528T>C (p.Cys3176=)
NM_001277115.2(DNAH11):c.9540A>G (p.Leu3180=)
NM_001277115.2(DNAH11):c.9541C>A (p.Leu3181Ile)
NM_001277115.2(DNAH11):c.9543C>T (p.Leu3181=) rs757824695
NM_001277115.2(DNAH11):c.9545A>T (p.Lys3182Met)
NM_001277115.2(DNAH11):c.9558A>G (p.Ala3186=)
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
NM_001277115.2(DNAH11):c.9597+15T>C
NM_001277115.2(DNAH11):c.9598-10T>C
NM_001277115.2(DNAH11):c.9598-16G>C
NM_001277115.2(DNAH11):c.9598-18C>T
NM_001277115.2(DNAH11):c.9598-19T>C
NM_001277115.2(DNAH11):c.9598-24_9598-11del
NM_001277115.2(DNAH11):c.9598-7T>C
NM_001277115.2(DNAH11):c.9600C>T (p.Val3200=)
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser) rs762025592
NM_001277115.2(DNAH11):c.960C>T (p.Asp320=)
NM_001277115.2(DNAH11):c.9627C>A (p.Pro3209=)
NM_001277115.2(DNAH11):c.9627C>G (p.Pro3209=) rs200256329
NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=) rs200256329
NM_001277115.2(DNAH11):c.9629A>C (p.Asn3210Thr)
NM_001277115.2(DNAH11):c.9629A>G (p.Asn3210Ser)
NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr) rs141979671
NM_001277115.2(DNAH11):c.9646A>G (p.Thr3216Ala)
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
NM_001277115.2(DNAH11):c.9670G>C (p.Val3224Leu)
NM_001277115.2(DNAH11):c.9672C>T (p.Val3224=) rs1583693892
NM_001277115.2(DNAH11):c.9686G>C (p.Arg3229Pro)
NM_001277115.2(DNAH11):c.9691A>C (p.Arg3231=)
NM_001277115.2(DNAH11):c.9699C>T (p.Pro3233=)
NM_001277115.2(DNAH11):c.9708A>G (p.Arg3236=)
NM_001277115.2(DNAH11):c.9717A>G (p.Lys3239=)
NM_001277115.2(DNAH11):c.9723T>C (p.Ala3241=)
NM_001277115.2(DNAH11):c.9729C>T (p.Val3243=)
NM_001277115.2(DNAH11):c.9735G>T (p.Met3245Ile)
NM_001277115.2(DNAH11):c.9741+10C>T
NM_001277115.2(DNAH11):c.9741+12G>A
NM_001277115.2(DNAH11):c.9741+12G>C
NM_001277115.2(DNAH11):c.9741+13C>A
NM_001277115.2(DNAH11):c.9741+14C>G
NM_001277115.2(DNAH11):c.9741+19A>T
NM_001277115.2(DNAH11):c.9742-14T>A
NM_001277115.2(DNAH11):c.9742-20T>C
NM_001277115.2(DNAH11):c.9742-4G>A
NM_001277115.2(DNAH11):c.9742-4G>C
NM_001277115.2(DNAH11):c.9742-4G>T rs370896008
NM_001277115.2(DNAH11):c.9756G>A (p.Leu3252=)
NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val)
NM_001277115.2(DNAH11):c.9768T>C (p.Ile3256=) rs567962120
NM_001277115.2(DNAH11):c.9790C>G (p.Pro3264Ala)
NM_001277115.2(DNAH11):c.9792A>G (p.Pro3264=)
NM_001277115.2(DNAH11):c.9816T>C (p.Asn3272=)
NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys)
NM_001277115.2(DNAH11):c.9819A>T (p.Glu3273Asp) rs778746926
NM_001277115.2(DNAH11):c.982+11T>C
NM_001277115.2(DNAH11):c.982+11T>G
NM_001277115.2(DNAH11):c.982+15C>G
NM_001277115.2(DNAH11):c.982+16C>T
NM_001277115.2(DNAH11):c.982+17T>G
NM_001277115.2(DNAH11):c.982+18C>T
NM_001277115.2(DNAH11):c.982+20G>C
NM_001277115.2(DNAH11):c.982+7del
NM_001277115.2(DNAH11):c.982+9C>T
NM_001277115.2(DNAH11):c.982+9_982+10del
NM_001277115.2(DNAH11):c.9824A>G (p.Tyr3275Cys)
NM_001277115.2(DNAH11):c.983-12C>A
NM_001277115.2(DNAH11):c.983-12C>G
NM_001277115.2(DNAH11):c.983-15G>A
NM_001277115.2(DNAH11):c.983-17T>G
NM_001277115.2(DNAH11):c.983-8G>C
NM_001277115.2(DNAH11):c.983-9T>C
NM_001277115.2(DNAH11):c.9831A>G (p.Lys3277=)
NM_001277115.2(DNAH11):c.9862A>T (p.Thr3288Ser)
NM_001277115.2(DNAH11):c.9880G>C (p.Ala3294Pro)
NM_001277115.2(DNAH11):c.9892G>T (p.Ala3298Ser)
NM_001277115.2(DNAH11):c.9894C>G (p.Ala3298=)
NM_001277115.2(DNAH11):c.9894C>T (p.Ala3298=)
NM_001277115.2(DNAH11):c.9898G>A (p.Val3300Ile)
NM_001277115.2(DNAH11):c.9900C>A (p.Val3300=)
NM_001277115.2(DNAH11):c.990C>G (p.Leu330=)
NM_001277115.2(DNAH11):c.9910A>G (p.Ile3304Val)
NM_001277115.2(DNAH11):c.9917T>G (p.Phe3306Cys)
NM_001277115.2(DNAH11):c.9921T>C (p.Tyr3307=) rs369440793
NM_001277115.2(DNAH11):c.9924+10C>T
NM_001277115.2(DNAH11):c.9924+14A>G
NM_001277115.2(DNAH11):c.9924+20T>G
NM_001277115.2(DNAH11):c.9924+7A>G rs762368078
NM_001277115.2(DNAH11):c.9924+7A>T
NM_001277115.2(DNAH11):c.9924+9C>A
NM_001277115.2(DNAH11):c.9924+9C>T
NM_001277115.2(DNAH11):c.9925-10G>T
NM_001277115.2(DNAH11):c.9925-12A>G
NM_001277115.2(DNAH11):c.9925-17A>G
NM_001277115.2(DNAH11):c.9925-17_9925-14del
NM_001277115.2(DNAH11):c.9951C>T (p.Arg3317=)
NM_001277115.2(DNAH11):c.9963C>T (p.Ala3321=)
NM_001277115.2(DNAH11):c.9972C>T (p.Asn3324=)
NM_001277115.2(DNAH11):c.997C>A (p.Gln333Lys)
NM_001277115.2(DNAH11):c.9981G>A (p.Leu3327=)
NM_001277115.2(DNAH11):c.9981G>C (p.Leu3327=)
NM_001277115.2(DNAH11):c.9988G>A (p.Ala3330Thr)
NM_001277115.2(DNAH11):c.9996A>G (p.Glu3332=) rs2127988241
NM_001277115.2(DNAH11):c.999A>C (p.Gln333His)
NM_001277115.2(DNAH11):c.999A>G (p.Gln333=)
NM_001277115.2(DNAH11):c.99G>A (p.Val33=)
NM_001277115.2(DNAH11):c.9C>G (p.Ala3=)
NM_001278293.3(ARL6):c.-27-1461A>T rs143739859
NM_001278293.3(ARL6):c.123+12T>C
NM_001278293.3(ARL6):c.123+19T>C
NM_001278293.3(ARL6):c.123+19T>G
NM_001278293.3(ARL6):c.124-13T>G
NM_001278293.3(ARL6):c.124-16G>A
NM_001278293.3(ARL6):c.124-16G>T
NM_001278293.3(ARL6):c.124-17T>C
NM_001278293.3(ARL6):c.124-20C>G
NM_001278293.3(ARL6):c.126T>G (p.Ala42=)
NM_001278293.3(ARL6):c.129A>G (p.Gln43=)
NM_001278293.3(ARL6):c.141C>T (p.Ile47=)
NM_001278293.3(ARL6):c.150A>C (p.Thr50=)
NM_001278293.3(ARL6):c.153A>C (p.Ile51=)
NM_001278293.3(ARL6):c.185+15C>G
NM_001278293.3(ARL6):c.185+15C>T
NM_001278293.3(ARL6):c.185+16C>T
NM_001278293.3(ARL6):c.185+7C>A
NM_001278293.3(ARL6):c.186-5T>G
NM_001278293.3(ARL6):c.201G>C (p.Val67=) rs2108034087
NM_001278293.3(ARL6):c.207C>T (p.Asp69=)
NM_001278293.3(ARL6):c.213A>T (p.Ser71=)
NM_001278293.3(ARL6):c.249T>C (p.Tyr83=) rs888140182
NM_001278293.3(ARL6):c.24A>C (p.Ser8=)
NM_001278293.3(ARL6):c.254+12T>A
NM_001278293.3(ARL6):c.254+13G>A
NM_001278293.3(ARL6):c.254+7A>G
NM_001278293.3(ARL6):c.254+9A>C
NM_001278293.3(ARL6):c.255-10C>T
NM_001278293.3(ARL6):c.255-15C>A
NM_001278293.3(ARL6):c.255-16T>C
NM_001278293.3(ARL6):c.255-17T>G
NM_001278293.3(ARL6):c.255-5C>T
NM_001278293.3(ARL6):c.255-6A>T
NM_001278293.3(ARL6):c.255-7del
NM_001278293.3(ARL6):c.261C>G (p.Gly87=)
NM_001278293.3(ARL6):c.267T>A (p.Ala89=)
NM_001278293.3(ARL6):c.28T>C (p.Leu10=)
NM_001278293.3(ARL6):c.298T>C (p.Leu100=)
NM_001278293.3(ARL6):c.300A>G (p.Leu100=)
NM_001278293.3(ARL6):c.327C>T (p.Leu109=)
NM_001278293.3(ARL6):c.330T>C (p.Asp110=)
NM_001278293.3(ARL6):c.336T>G (p.Leu112=)
NM_001278293.3(ARL6):c.348A>G (p.Pro116=) rs2108053948
NM_001278293.3(ARL6):c.349+19G>A
NM_001278293.3(ARL6):c.349+7G>A
NM_001278293.3(ARL6):c.350-14A>G
NM_001278293.3(ARL6):c.350-14_350-12del
NM_001278293.3(ARL6):c.350-18T>C
NM_001278293.3(ARL6):c.350-20A>G
NM_001278293.3(ARL6):c.350-6T>G
NM_001278293.3(ARL6):c.350-7_350-6del
NM_001278293.3(ARL6):c.350-8T>C rs2108067599
NM_001278293.3(ARL6):c.350-9C>T
NM_001278293.3(ARL6):c.360C>T (p.His120=)
NM_001278293.3(ARL6):c.384T>C (p.Phe128=)
NM_001278293.3(ARL6):c.414G>C (p.Val138=)
NM_001278293.3(ARL6):c.432T>C (p.Ser144=)
NM_001278293.3(ARL6):c.438G>A (p.Leu146=)
NM_001278293.3(ARL6):c.468C>A (p.Pro156=)
NM_001278293.3(ARL6):c.474T>C (p.His158=)
NM_001278293.3(ARL6):c.479+13A>G
NM_001278293.3(ARL6):c.479+14T>C
NM_001278293.3(ARL6):c.479+17_479+20del rs759965769
NM_001278293.3(ARL6):c.480-10T>A
NM_001278293.3(ARL6):c.480-12A>T
NM_001278293.3(ARL6):c.480-13G>A
NM_001278293.3(ARL6):c.480-15T>C
NM_001278293.3(ARL6):c.480-16A>G
NM_001278293.3(ARL6):c.480-20T>C
NM_001278293.3(ARL6):c.483T>C (p.Ala161=)
NM_001278293.3(ARL6):c.510G>A (p.Leu170=)
NM_001278293.3(ARL6):c.535+11A>G rs1186132444
NM_001278293.3(ARL6):c.535+16C>A
NM_001278293.3(ARL6):c.535+8A>G rs2037753193
NM_001278293.3(ARL6):c.536-15_536-12del
NM_001278293.3(ARL6):c.536-8G>A rs748740752
NM_001278293.3(ARL6):c.558A>G (p.Thr186=)
NM_001278293.3(ARL6):c.61T>C (p.Leu21=)
NM_001278293.3(ARL6):c.75A>G (p.Leu25=)
NM_001278293.3(ARL6):c.81T>C (p.Asn27=)
NM_001329943.3(KIAA0586):c.*20A>G
NM_001329943.3(KIAA0586):c.-1T>C
NM_001329943.3(KIAA0586):c.-31T>G
NM_001329943.3(KIAA0586):c.-36G>A rs781284563
NM_001329943.3(KIAA0586):c.-37C>G
NM_001329943.3(KIAA0586):c.-47A>G
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
NM_001329943.3(KIAA0586):c.1129+16A>C rs1263079347
NM_001329943.3(KIAA0586):c.1129+20G>C
NM_001329943.3(KIAA0586):c.1130-12C>T
NM_001329943.3(KIAA0586):c.1130-16A>G
NM_001329943.3(KIAA0586):c.1130-18A>G
NM_001329943.3(KIAA0586):c.1130-20C>G
NM_001329943.3(KIAA0586):c.1130-7A>G rs1656520928
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) rs2039565444
NM_001329943.3(KIAA0586):c.1253+12A>T
NM_001329943.3(KIAA0586):c.1253+17G>A
NM_001329943.3(KIAA0586):c.1253+19A>C
NM_001329943.3(KIAA0586):c.1254-12A>G
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
NM_001329943.3(KIAA0586):c.1362+10G>T
NM_001329943.3(KIAA0586):c.1362+17C>T
NM_001329943.3(KIAA0586):c.1363-11T>C rs2140842996
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) rs2140843741
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
NM_001329943.3(KIAA0586):c.1583+17A>G
NM_001329943.3(KIAA0586):c.1583+7G>A rs1333490071
NM_001329943.3(KIAA0586):c.1584-14T>C rs2140853060
NM_001329943.3(KIAA0586):c.1584-18C>A
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) rs776054856
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
NM_001329943.3(KIAA0586):c.1656+12A>G
NM_001329943.3(KIAA0586):c.1656+17A>T
NM_001329943.3(KIAA0586):c.1656+19C>A
NM_001329943.3(KIAA0586):c.1657-13T>C
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
NM_001329943.3(KIAA0586):c.1884+15T>C rs1313237040
NM_001329943.3(KIAA0586):c.1885-12T>G
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
NM_001329943.3(KIAA0586):c.1885-15A>T
NM_001329943.3(KIAA0586):c.1885-5C>T rs752142962
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) rs376649351
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) rs1477846398
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
NM_001329943.3(KIAA0586):c.199+13A>C rs769176872
NM_001329943.3(KIAA0586):c.199+13A>G
NM_001329943.3(KIAA0586):c.199+15G>A
NM_001329943.3(KIAA0586):c.200-5G>A
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) rs2140887489
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) rs190081177
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
NM_001329943.3(KIAA0586):c.2059+20A>G
NM_001329943.3(KIAA0586):c.2060-16T>C
NM_001329943.3(KIAA0586):c.2060-19C>T
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
NM_001329943.3(KIAA0586):c.2254+17T>C rs2140941167
NM_001329943.3(KIAA0586):c.2254+20G>T
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
NM_001329943.3(KIAA0586):c.2442+11del rs753806115
NM_001329943.3(KIAA0586):c.2442+15A>C
NM_001329943.3(KIAA0586):c.2442+16T>C
NM_001329943.3(KIAA0586):c.2442+9G>A rs1490718693
NM_001329943.3(KIAA0586):c.2443-14G>A
NM_001329943.3(KIAA0586):c.2443-18T>C
NM_001329943.3(KIAA0586):c.2443-19A>G
NM_001329943.3(KIAA0586):c.2443-4T>C rs911579183
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) rs761492303
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) rs751246498
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
NM_001329943.3(KIAA0586):c.2553+20C>A
NM_001329943.3(KIAA0586):c.2554-4T>G
NM_001329943.3(KIAA0586):c.2554-9C>A
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
NM_001329943.3(KIAA0586):c.2634+12T>C rs766964981
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) rs2037178345
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
NM_001329943.3(KIAA0586):c.2825+15T>G
NM_001329943.3(KIAA0586):c.2826-10A>G
NM_001329943.3(KIAA0586):c.2826-11C>T
NM_001329943.3(KIAA0586):c.2826-12C>T
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) rs1187492772
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
NM_001329943.3(KIAA0586):c.2944+13G>A
NM_001329943.3(KIAA0586):c.2944+16T>A
NM_001329943.3(KIAA0586):c.2944+17T>G
NM_001329943.3(KIAA0586):c.2944+19T>A
NM_001329943.3(KIAA0586):c.2945-4T>C
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) rs1284387922
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
NM_001329943.3(KIAA0586):c.3144+20C>G
NM_001329943.3(KIAA0586):c.3144+20C>T
NM_001329943.3(KIAA0586):c.3144+7G>A
NM_001329943.3(KIAA0586):c.3145-12T>C
NM_001329943.3(KIAA0586):c.3145-16G>A
NM_001329943.3(KIAA0586):c.3145-8T>C
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) rs528416301
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG rs2141183723
NM_001329943.3(KIAA0586):c.3305-17T>A
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) rs2141193804
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) rs2140373069
NM_001329943.3(KIAA0586):c.340+13T>G
NM_001329943.3(KIAA0586):c.340+14A>G
NM_001329943.3(KIAA0586):c.341-17G>C
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) rs759687892
NM_001329943.3(KIAA0586):c.3527+17T>C
NM_001329943.3(KIAA0586):c.3528-15T>G rs752835695
NM_001329943.3(KIAA0586):c.3528-16G>A
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) rs367676896
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) rs2141202944
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) rs368352741
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) rs1489789614
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) rs372215354
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
NM_001329943.3(KIAA0586):c.3781+18A>G
NM_001329943.3(KIAA0586):c.3782-18T>A
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
NM_001329943.3(KIAA0586):c.3858+16C>T
NM_001329943.3(KIAA0586):c.3858+7A>G rs771949597
NM_001329943.3(KIAA0586):c.3858+9C>T
NM_001329943.3(KIAA0586):c.3859-13A>G
NM_001329943.3(KIAA0586):c.3859-16T>A
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) rs757393939
NM_001329943.3(KIAA0586):c.3990+19G>A
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
NM_001329943.3(KIAA0586):c.411-12T>G
NM_001329943.3(KIAA0586):c.411-1347C>T
NM_001329943.3(KIAA0586):c.411-1348dup
NM_001329943.3(KIAA0586):c.411-1349C>T
NM_001329943.3(KIAA0586):c.411-1355C>T
NM_001329943.3(KIAA0586):c.411-1380G>A
NM_001329943.3(KIAA0586):c.411-1491G>T rs2140520688
NM_001329943.3(KIAA0586):c.411-15dup
NM_001329943.3(KIAA0586):c.411-4A>G
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
NM_001329943.3(KIAA0586):c.4168+13A>G rs375052904
NM_001329943.3(KIAA0586):c.4168+8C>A rs1331278032
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) rs369935221
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4323+12A>G
NM_001329943.3(KIAA0586):c.4324-11A>T
NM_001329943.3(KIAA0586):c.4324-16A>G rs376320678
NM_001329943.3(KIAA0586):c.4324-6A>G
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) rs2141479527
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) rs2141479570
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
NM_001329943.3(KIAA0586):c.4429+11T>A
NM_001329943.3(KIAA0586):c.4429+16A>G
NM_001329943.3(KIAA0586):c.4429+17T>C
NM_001329943.3(KIAA0586):c.4430-15T>A rs1212572767
NM_001329943.3(KIAA0586):c.4430-15T>C
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) rs780867053
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
NM_001329943.3(KIAA0586):c.4495+12A>G rs2140098467
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
NM_001329943.3(KIAA0586):c.4495+3729T>C
NM_001329943.3(KIAA0586):c.4495+3730T>G
NM_001329943.3(KIAA0586):c.4495+3732T>A
NM_001329943.3(KIAA0586):c.4495+3737T>G
NM_001329943.3(KIAA0586):c.4495+3796G>T
NM_001329943.3(KIAA0586):c.4495+7T>C
NM_001329943.3(KIAA0586):c.4496-17G>A
NM_001329943.3(KIAA0586):c.4496-3794A>G
NM_001329943.3(KIAA0586):c.4496-3799A>G
NM_001329943.3(KIAA0586):c.4496-3803T>G
NM_001329943.3(KIAA0586):c.4496-3816C>T
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) rs2140156164
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) rs2047081237
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
NM_001329943.3(KIAA0586):c.585+17_585+29del
NM_001329943.3(KIAA0586):c.586-16G>T
NM_001329943.3(KIAA0586):c.586-17T>C
NM_001329943.3(KIAA0586):c.586-4T>G
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) rs774888789
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) rs577258273
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) rs1487078229
NM_001329943.3(KIAA0586):c.807+10A>C rs368833496
NM_001329943.3(KIAA0586):c.807+12A>G
NM_001329943.3(KIAA0586):c.807+19G>C
NM_001329943.3(KIAA0586):c.807+8del rs2140568510
NM_001329943.3(KIAA0586):c.807+9A>G rs2140568561
NM_001329943.3(KIAA0586):c.808-13T>G rs1364907790
NM_001329943.3(KIAA0586):c.808-20A>C
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) rs2140662420
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
NM_001329943.3(KIAA0586):c.961+11G>T
NM_001329943.3(KIAA0586):c.962-14A>C rs200528557
NM_001329943.3(KIAA0586):c.962-19A>T
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
NM_001352754.2(ARMC9):c.2261+1G>A
NM_001364171.2(ODAD1):c.1065C>T (p.Ile355=)
NM_001364171.2(ODAD1):c.1071+10G>C
NM_001364171.2(ODAD1):c.1072-20A>G
NM_001364171.2(ODAD1):c.1092C>T (p.Ser364=)
NM_001364171.2(ODAD1):c.120G>A (p.Gly40=)
NM_001364171.2(ODAD1):c.1240+17G>A
NM_001364171.2(ODAD1):c.1240+9C>A
NM_001364171.2(ODAD1):c.1241-14C>T
NM_001364171.2(ODAD1):c.1241-15C>G
NM_001364171.2(ODAD1):c.1241-17G>A
NM_001364171.2(ODAD1):c.1241-18C>T
NM_001364171.2(ODAD1):c.1241-6A>T
NM_001364171.2(ODAD1):c.1260C>G (p.Thr420=)
NM_001364171.2(ODAD1):c.1273G>A (p.Asp425Asn)
NM_001364171.2(ODAD1):c.1287C>T (p.Ile429=)
NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=)
NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=)
NM_001364171.2(ODAD1):c.1380A>G (p.Thr460=)
NM_001364171.2(ODAD1):c.138C>T (p.Ser46=)
NM_001364171.2(ODAD1):c.1404+10G>A
NM_001364171.2(ODAD1):c.1405-5_1405-4del
NM_001364171.2(ODAD1):c.1416C>G (p.Ser472=) rs1161698973
NM_001364171.2(ODAD1):c.1422C>T (p.Ala474=) rs141720286
NM_001364171.2(ODAD1):c.1467G>A (p.Pro489=)
NM_001364171.2(ODAD1):c.1479C>G (p.Ala493=)
NM_001364171.2(ODAD1):c.1503-16_1503-12dup
NM_001364171.2(ODAD1):c.150C>T (p.His50=)
NM_001364171.2(ODAD1):c.1513_1514delinsTT (p.Pro505Leu) rs2147308486
NM_001364171.2(ODAD1):c.1515G>C (p.Pro505=)
NM_001364171.2(ODAD1):c.1581+20G>C rs1418690778
NM_001364171.2(ODAD1):c.1602G>A (p.Ala534=) rs747363334
NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His)
NM_001364171.2(ODAD1):c.1624C>T (p.Leu542=)
NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup) rs761748771
NM_001364171.2(ODAD1):c.1638C>T (p.Ala546=)
NM_001364171.2(ODAD1):c.1662C>T (p.Ser554=)
NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=)
NM_001364171.2(ODAD1):c.170+12G>A
NM_001364171.2(ODAD1):c.1734C>T (p.Ile578=) rs1394478466
NM_001364171.2(ODAD1):c.1842G>T (p.Thr614=)
NM_001364171.2(ODAD1):c.1875C>T (p.Phe625=)
NM_001364171.2(ODAD1):c.1926C>T (p.Ser642=)
NM_001364171.2(ODAD1):c.2004C>T (p.Ser668=)
NM_001364171.2(ODAD1):c.2016G>A (p.Ala672=)
NM_001364171.2(ODAD1):c.2025G>C (p.Ser675=)
NM_001364171.2(ODAD1):c.2028C>T (p.Ser676=)
NM_001364171.2(ODAD1):c.2040G>A (p.Gly680=)
NM_001364171.2(ODAD1):c.204C>A (p.Gly68=)
NM_001364171.2(ODAD1):c.2070C>T (p.Gly690=) rs878855210
NM_001364171.2(ODAD1):c.2121C>T (p.Gly707=)
NM_001364171.2(ODAD1):c.270G>A (p.Leu90=) rs2147336558
NM_001364171.2(ODAD1):c.284G>A (p.Arg95His)
NM_001364171.2(ODAD1):c.285C>T (p.Arg95=)
NM_001364171.2(ODAD1):c.300G>A (p.Arg100=)
NM_001364171.2(ODAD1):c.330G>T (p.Leu110=) rs1600875570
NM_001364171.2(ODAD1):c.361-14C>A
NM_001364171.2(ODAD1):c.361-7C>T
NM_001364171.2(ODAD1):c.475T>C (p.Leu159=) rs968591762
NM_001364171.2(ODAD1):c.483+15C>A
NM_001364171.2(ODAD1):c.484-13T>C
NM_001364171.2(ODAD1):c.484-15C>A
NM_001364171.2(ODAD1):c.540G>C (p.Leu180=)
NM_001364171.2(ODAD1):c.556G>T (p.Asp186Tyr) rs372015636
NM_001364171.2(ODAD1):c.598-5C>G
NM_001364171.2(ODAD1):c.612G>A (p.Leu204=)
NM_001364171.2(ODAD1):c.665+16A>G rs2147320831
NM_001364171.2(ODAD1):c.666-15G>A
NM_001364171.2(ODAD1):c.666-16C>T
NM_001364171.2(ODAD1):c.675G>A (p.Ala225=)
NM_001364171.2(ODAD1):c.696_697delinsTT (p.Arg233Trp) rs1968544779
NM_001364171.2(ODAD1):c.785A>G (p.His262Arg)
NM_001364171.2(ODAD1):c.798C>T (p.Leu266=)
NM_001364171.2(ODAD1):c.807C>T (p.Asn269=) rs200808081
NM_001364171.2(ODAD1):c.853+15G>A
NM_001364171.2(ODAD1):c.853+18G>A
NM_001364171.2(ODAD1):c.854-5C>T
NM_001364171.2(ODAD1):c.874G>A (p.Val292Ile) rs571330368
NM_001364171.2(ODAD1):c.912C>T (p.Tyr304=)
NM_001364171.2(ODAD1):c.915G>A (p.Glu305=)
NM_001364171.2(ODAD1):c.936C>T (p.Ser312=)
NM_001364171.2(ODAD1):c.988+14T>C
NM_001364171.2(ODAD1):c.988+18T>G
NM_001364171.2(ODAD1):c.988+7G>T
NM_001364171.2(ODAD1):c.989-20G>A
NM_001364171.2(ODAD1):c.989-4C>G
NM_001364171.2(ODAD1):c.989-5C>A
NM_001364171.2(ODAD1):c.989-8T>C
NM_001364171.2(ODAD1):c.990C>T (p.Ile330=)
NM_001364171.2(ODAD1):c.996G>A (p.Glu332=)
NM_001369.3(DNAH5):c.10002C>T (p.Val3334=) rs2126762263
NM_001369.3(DNAH5):c.1002C>T (p.Ile334=) rs1243397537
NM_001369.3(DNAH5):c.10038C>G (p.Thr3346=) rs1415381787
NM_001369.3(DNAH5):c.10044C>G (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.10047C>T (p.Ser3349=)
NM_001369.3(DNAH5):c.10051C>A (p.Gln3351Lys)
NM_001369.3(DNAH5):c.10077A>G (p.Ala3359=)
NM_001369.3(DNAH5):c.10077A>T (p.Ala3359=)
NM_001369.3(DNAH5):c.10083C>T (p.Asn3361=) rs768437432
NM_001369.3(DNAH5):c.10087T>C (p.Leu3363=)
NM_001369.3(DNAH5):c.10096T>C (p.Leu3366=) rs1032546466
NM_001369.3(DNAH5):c.10101+11C>T
NM_001369.3(DNAH5):c.10101+12A>G
NM_001369.3(DNAH5):c.10101+7A>C
NM_001369.3(DNAH5):c.10101+7A>G
NM_001369.3(DNAH5):c.10101+8G>A
NM_001369.3(DNAH5):c.10102-10T>C
NM_001369.3(DNAH5):c.10102-10T>G rs1307992178
NM_001369.3(DNAH5):c.10102-15T>C
NM_001369.3(DNAH5):c.10102-18T>C
NM_001369.3(DNAH5):c.10102-22_10102-19del
NM_001369.3(DNAH5):c.10102-4A>G rs2126746618
NM_001369.3(DNAH5):c.10102-4del rs1751979908
NM_001369.3(DNAH5):c.10102-5C>T rs1318738786
NM_001369.3(DNAH5):c.10102-9C>G rs762531071
NM_001369.3(DNAH5):c.1011A>G (p.Ala337=)
NM_001369.3(DNAH5):c.10122C>T (p.Ile3374=)
NM_001369.3(DNAH5):c.10131G>A (p.Glu3377=)
NM_001369.3(DNAH5):c.10134G>A (p.Val3378=) rs761451180
NM_001369.3(DNAH5):c.1014T>A (p.Thr338=)
NM_001369.3(DNAH5):c.10152T>G (p.Pro3384=)
NM_001369.3(DNAH5):c.10170C>T (p.Asp3390=) rs2126746270
NM_001369.3(DNAH5):c.10179C>A (p.Ile3393=)
NM_001369.3(DNAH5):c.10182A>G (p.Glu3394=)
NM_001369.3(DNAH5):c.10191A>G (p.Lys3397=) rs1250972452
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
NM_001369.3(DNAH5):c.10197A>C (p.Val3399=) rs756720477
NM_001369.3(DNAH5):c.10203A>G (p.Gly3401=)
NM_001369.3(DNAH5):c.10206T>C (p.Asn3402=) rs2126745918
NM_001369.3(DNAH5):c.10209A>G (p.Val3403=) rs767967816
NM_001369.3(DNAH5):c.10218T>A (p.Leu3406=) rs1368972106
NM_001369.3(DNAH5):c.10224C>T (p.Ser3408=) rs1751963683
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser)
NM_001369.3(DNAH5):c.10254T>C (p.Ser3418=) rs1282684944
NM_001369.3(DNAH5):c.10257A>C (p.Ile3419=)
NM_001369.3(DNAH5):c.10269A>G (p.Val3423=) rs1751956438
NM_001369.3(DNAH5):c.1026G>A (p.Lys342=) rs2151986801
NM_001369.3(DNAH5):c.10270C>T (p.Leu3424=)
NM_001369.3(DNAH5):c.10281+10C>G
NM_001369.3(DNAH5):c.10281+12A>G
NM_001369.3(DNAH5):c.10282-13G>A
NM_001369.3(DNAH5):c.10282-14T>C
NM_001369.3(DNAH5):c.10282-15G>A
NM_001369.3(DNAH5):c.10282-17G>A
NM_001369.3(DNAH5):c.10282-17GT[3] rs2126728447
NM_001369.3(DNAH5):c.10282-18T>G
NM_001369.3(DNAH5):c.10282-19C>G
NM_001369.3(DNAH5):c.10282-7T>C
NM_001369.3(DNAH5):c.10282-7T>G
NM_001369.3(DNAH5):c.10282-8C>T rs1315633907
NM_001369.3(DNAH5):c.10284C>T (p.Ala3428=)
NM_001369.3(DNAH5):c.10288T>C (p.Leu3430=) rs1356696172
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly)
NM_001369.3(DNAH5):c.10292T>C (p.Val3431Ala)
NM_001369.3(DNAH5):c.10296G>A (p.Val3432=) rs1353093059
NM_001369.3(DNAH5):c.1029C>T (p.Asp343=)
NM_001369.3(DNAH5):c.10302G>T (p.Glu3434Asp)
NM_001369.3(DNAH5):c.1030A>C (p.Asn344His)
NM_001369.3(DNAH5):c.10341C>T (p.Ala3447=) rs2126728035
NM_001369.3(DNAH5):c.10344G>A (p.Gln3448=) rs2126727987
NM_001369.3(DNAH5):c.10348G>A (p.Glu3450Lys)
NM_001369.3(DNAH5):c.1035G>A (p.Val345=) rs150335023
NM_001369.3(DNAH5):c.1035G>T (p.Val345=) rs150335023
NM_001369.3(DNAH5):c.10363C>G (p.Gln3455Glu)
NM_001369.3(DNAH5):c.10374T>C (p.Leu3458=) rs768186812
NM_001369.3(DNAH5):c.10383G>A (p.Val3461=) rs1751389672
NM_001369.3(DNAH5):c.1038A>G (p.Lys346=)
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
NM_001369.3(DNAH5):c.10419+14G>C rs1751377263
NM_001369.3(DNAH5):c.10419+14G>T
NM_001369.3(DNAH5):c.10419+20G>A
NM_001369.3(DNAH5):c.10419+7G>T rs2126727429
NM_001369.3(DNAH5):c.1041C>T (p.Tyr347=) rs2151986754
NM_001369.3(DNAH5):c.10420-10C>A
NM_001369.3(DNAH5):c.10420-12G>A
NM_001369.3(DNAH5):c.10420-13T>C
NM_001369.3(DNAH5):c.10420-18G>A
NM_001369.3(DNAH5):c.10420-18G>T
NM_001369.3(DNAH5):c.10420-5G>A rs754497052
NM_001369.3(DNAH5):c.10420-6del
NM_001369.3(DNAH5):c.10420-9C>G rs2126706818
NM_001369.3(DNAH5):c.10422C>T (p.Thr3474=)
NM_001369.3(DNAH5):c.10428T>C (p.Leu3476=) rs2126706709
NM_001369.3(DNAH5):c.1042T>C (p.Leu348=)
NM_001369.3(DNAH5):c.10432G>A (p.Asp3478Asn)
NM_001369.3(DNAH5):c.10437A>T (p.Ala3479=) rs139881808
NM_001369.3(DNAH5):c.10440G>A (p.Glu3480=) rs1485742988
NM_001369.3(DNAH5):c.10443A>T (p.Arg3481=) rs1554035381
NM_001369.3(DNAH5):c.1044G>A (p.Leu348=) rs2151986750
NM_001369.3(DNAH5):c.10452C>T (p.His3484=)
NM_001369.3(DNAH5):c.10464A>G (p.Thr3488=) rs2126706410
NM_001369.3(DNAH5):c.10467T>C (p.Ala3489=)
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=) rs1750680564
NM_001369.3(DNAH5):c.10473G>T (p.Thr3491=)
NM_001369.3(DNAH5):c.10476C>T (p.Leu3492=)
NM_001369.3(DNAH5):c.10482T>C (p.Ser3494=) rs2126706314
NM_001369.3(DNAH5):c.10485C>T (p.Gly3495=) rs2126706302
NM_001369.3(DNAH5):c.1050A>G (p.Thr350=)
NM_001369.3(DNAH5):c.1050A>T (p.Thr350=) rs2151986716
NM_001369.3(DNAH5):c.10515G>A (p.Glu3505=)
NM_001369.3(DNAH5):c.10533T>A (p.Ala3511=) rs2126705939
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=) rs727502972
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
NM_001369.3(DNAH5):c.10555+14T>A
NM_001369.3(DNAH5):c.10555+15T>C
NM_001369.3(DNAH5):c.10555+16T>A
NM_001369.3(DNAH5):c.10555+7A>T rs2126705752
NM_001369.3(DNAH5):c.10555+9A>G rs2126705731
NM_001369.3(DNAH5):c.10556-14G>A rs2126702410
NM_001369.3(DNAH5):c.10556-15T>C rs754992743
NM_001369.3(DNAH5):c.10556-17T>A
NM_001369.3(DNAH5):c.10556-18G>C
NM_001369.3(DNAH5):c.10556-7A>G rs1020511618
NM_001369.3(DNAH5):c.10556-8T>A rs2126702377
NM_001369.3(DNAH5):c.10556-9C>G
NM_001369.3(DNAH5):c.10557G>A (p.Gly3519=) rs2126702324
NM_001369.3(DNAH5):c.10560T>C (p.Asp3520=)
NM_001369.3(DNAH5):c.10563A>G (p.Val3521=)
NM_001369.3(DNAH5):c.10564C>T (p.Leu3522=)
NM_001369.3(DNAH5):c.10572T>C (p.Ala3524=)
NM_001369.3(DNAH5):c.10578T>C (p.Ala3526=)
NM_001369.3(DNAH5):c.10581T>C (p.Phe3527=) rs539286465
NM_001369.3(DNAH5):c.10582C>T (p.Leu3528=)
NM_001369.3(DNAH5):c.10590T>C (p.Tyr3530=) rs774032957
NM_001369.3(DNAH5):c.105G>A (p.Ala35=) rs753457503
NM_001369.3(DNAH5):c.10626G>A (p.Leu3542=) rs1376078058
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.10644G>A (p.Lys3548=) rs2126701753
NM_001369.3(DNAH5):c.10656C>A (p.Ala3552=) rs757642030
NM_001369.3(DNAH5):c.10656C>T (p.Ala3552=)
NM_001369.3(DNAH5):c.10659G>C (p.Arg3553=)
NM_001369.3(DNAH5):c.10668A>C (p.Pro3556=)
NM_001369.3(DNAH5):c.10707T>C (p.Asp3569=) rs2126701355
NM_001369.3(DNAH5):c.10710T>A (p.Ala3570=)
NM_001369.3(DNAH5):c.10713T>C (p.Pro3571=)
NM_001369.3(DNAH5):c.1071T>A (p.Pro357=)
NM_001369.3(DNAH5):c.10740T>A (p.Gly3580=) rs2126701155
NM_001369.3(DNAH5):c.10743G>T (p.Leu3581=) rs2126701138
NM_001369.3(DNAH5):c.1074G>A (p.Leu358=) rs1176863097
NM_001369.3(DNAH5):c.10752T>C (p.Asp3584=)
NM_001369.3(DNAH5):c.10755C>T (p.Asp3585=)
NM_001369.3(DNAH5):c.10761C>A (p.Ser3587=) rs1156933558
NM_001369.3(DNAH5):c.10761C>T (p.Ser3587=) rs1156933558
NM_001369.3(DNAH5):c.10764T>C (p.Ile3588=)
NM_001369.3(DNAH5):c.10770T>C (p.Asn3590=) rs371679974
NM_001369.3(DNAH5):c.10773A>G (p.Gly3591=) rs1255675070
NM_001369.3(DNAH5):c.10779T>C (p.Ile3593=) rs2126700875
NM_001369.3(DNAH5):c.1077C>T (p.Tyr359=)
NM_001369.3(DNAH5):c.10782C>T (p.Val3594=) rs2126700829
NM_001369.3(DNAH5):c.10785G>C (p.Thr3595=) rs144055129
NM_001369.3(DNAH5):c.10800C>T (p.Tyr3600=) rs756610363
NM_001369.3(DNAH5):c.10806G>A (p.Leu3602=) rs751153837
NM_001369.3(DNAH5):c.10807T>C (p.Leu3603=)
NM_001369.3(DNAH5):c.10818A>G (p.Pro3606=)
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg)
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=) rs371211976
NM_001369.3(DNAH5):c.10852G>A (p.Glu3618Lys)
NM_001369.3(DNAH5):c.10858C>A (p.Arg3620=) rs1283070426
NM_001369.3(DNAH5):c.10859G>A (p.Arg3620Gln)
NM_001369.3(DNAH5):c.10872+14T>C
NM_001369.3(DNAH5):c.10872+15A>G
NM_001369.3(DNAH5):c.10872+15A>T
NM_001369.3(DNAH5):c.10872+16G>C
NM_001369.3(DNAH5):c.10872+17T>C
NM_001369.3(DNAH5):c.10872+19T>C rs1390184580
NM_001369.3(DNAH5):c.10872+7T>A
NM_001369.3(DNAH5):c.10872+8_10872+13del
NM_001369.3(DNAH5):c.10872+9T>G rs1580066952
NM_001369.3(DNAH5):c.10873-15T>C
NM_001369.3(DNAH5):c.10873-16G>A
NM_001369.3(DNAH5):c.10873-8G>T
NM_001369.3(DNAH5):c.10873-9T>C rs2126695522
NM_001369.3(DNAH5):c.10875C>T (p.Ile3625=)
NM_001369.3(DNAH5):c.1089+10G>A rs2151986613
NM_001369.3(DNAH5):c.1089+13T>C
NM_001369.3(DNAH5):c.1089+18A>C
NM_001369.3(DNAH5):c.1089+18A>G
NM_001369.3(DNAH5):c.1089+19C>T
NM_001369.3(DNAH5):c.1089+20T>C
NM_001369.3(DNAH5):c.10890C>G (p.His3630Gln)
NM_001369.3(DNAH5):c.108G>A (p.Arg36=) rs1227915144
NM_001369.3(DNAH5):c.1090-16T>G
NM_001369.3(DNAH5):c.1090-17T>C
NM_001369.3(DNAH5):c.1090-6T>C rs886060015
NM_001369.3(DNAH5):c.1090-7C>A
NM_001369.3(DNAH5):c.1090-8T>A rs16902950
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.1090-9A>G
NM_001369.3(DNAH5):c.1090-9_1090-8del
NM_001369.3(DNAH5):c.10926T>C (p.Ser3642=)
NM_001369.3(DNAH5):c.1092A>C (p.Leu364=)
NM_001369.3(DNAH5):c.10938T>G (p.Pro3646=)
NM_001369.3(DNAH5):c.10950A>G (p.Glu3650=) rs1750335994
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile)
NM_001369.3(DNAH5):c.10977A>G (p.Ala3659=) rs2126694781
NM_001369.3(DNAH5):c.10978C>T (p.Leu3660=)
NM_001369.3(DNAH5):c.10983T>C (p.Asp3661=) rs886059971
NM_001369.3(DNAH5):c.10986T>C (p.Asn3662=) rs1238800897
NM_001369.3(DNAH5):c.10998A>G (p.Arg3666=)
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=) rs1580060938
NM_001369.3(DNAH5):c.11028+11C>A
NM_001369.3(DNAH5):c.11028+12C>G
NM_001369.3(DNAH5):c.11028+12C>T
NM_001369.3(DNAH5):c.11028+13T>G
NM_001369.3(DNAH5):c.11028+14A>G
NM_001369.3(DNAH5):c.11028+8A>T
NM_001369.3(DNAH5):c.11029-10T>C
NM_001369.3(DNAH5):c.11029-14T>C
NM_001369.3(DNAH5):c.11029-20A>C
NM_001369.3(DNAH5):c.11029-8T>C rs2126690241
NM_001369.3(DNAH5):c.11029-9A>G
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)
NM_001369.3(DNAH5):c.11056G>A (p.Val3686Met)
NM_001369.3(DNAH5):c.11058G>C (p.Val3686=)
NM_001369.3(DNAH5):c.11058G>T (p.Val3686=) rs1372654063
NM_001369.3(DNAH5):c.1105G>A (p.Ala369Thr)
NM_001369.3(DNAH5):c.11064T>C (p.Asp3688=)
NM_001369.3(DNAH5):c.11070T>C (p.Phe3690=) rs2126689884
NM_001369.3(DNAH5):c.11071A>C (p.Arg3691=)
NM_001369.3(DNAH5):c.11073A>G (p.Arg3691=) rs2126689848
NM_001369.3(DNAH5):c.11079C>T (p.Tyr3693=) rs2126689772
NM_001369.3(DNAH5):c.11088C>G (p.Thr3696=) rs754892386
NM_001369.3(DNAH5):c.11092T>C (p.Leu3698=)
NM_001369.3(DNAH5):c.11094G>A (p.Leu3698=) rs2126689664
NM_001369.3(DNAH5):c.11109C>T (p.Tyr3703=) rs2126689531
NM_001369.3(DNAH5):c.11127C>T (p.Ala3709=)
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
NM_001369.3(DNAH5):c.11133C>G (p.Thr3711=)
NM_001369.3(DNAH5):c.1113T>C (p.Pro371=)
NM_001369.3(DNAH5):c.11149A>G (p.Thr3717Ala)
NM_001369.3(DNAH5):c.11169A>G (p.Leu3723=)
NM_001369.3(DNAH5):c.11211+10G>A rs1561171849
NM_001369.3(DNAH5):c.11211+15G>A
NM_001369.3(DNAH5):c.11211+15G>C
NM_001369.3(DNAH5):c.11211+17T>A
NM_001369.3(DNAH5):c.11211+19C>A
NM_001369.3(DNAH5):c.11212-12G>T
NM_001369.3(DNAH5):c.11212-6T>C rs1391603456
NM_001369.3(DNAH5):c.11212-6T>G
NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=)
NM_001369.3(DNAH5):c.11229A>G (p.Arg3743=)
NM_001369.3(DNAH5):c.1122A>T (p.Ile374=)
NM_001369.3(DNAH5):c.11239A>T (p.Met3747Leu)
NM_001369.3(DNAH5):c.11245G>T (p.Asp3749Tyr)
NM_001369.3(DNAH5):c.11246A>T (p.Asp3749Val) rs34447134
NM_001369.3(DNAH5):c.11247T>C (p.Asp3749=)
NM_001369.3(DNAH5):c.11256A>G (p.Ala3752=) rs1747688046
NM_001369.3(DNAH5):c.11259C>T (p.Asn3753=)
NM_001369.3(DNAH5):c.11268G>A (p.Arg3756=)
NM_001369.3(DNAH5):c.11271G>A (p.Met3757Ile)
NM_001369.3(DNAH5):c.11277A>G (p.Glu3759=) rs2126621365
NM_001369.3(DNAH5):c.11292G>A (p.Leu3764=) rs1435603022
NM_001369.3(DNAH5):c.11295T>C (p.Leu3765=)
NM_001369.3(DNAH5):c.11300G>T (p.Arg3767Leu)
NM_001369.3(DNAH5):c.11304G>A (p.Leu3768=)
NM_001369.3(DNAH5):c.11319G>T (p.Gly3773=) rs1002731861
NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly)
NM_001369.3(DNAH5):c.11334T>C (p.Asp3778=)
NM_001369.3(DNAH5):c.11349C>A (p.Val3783=) rs774415631
NM_001369.3(DNAH5):c.11350G>A (p.Val3784Met)
NM_001369.3(DNAH5):c.11358T>C (p.Ser3786=) rs2126620518
NM_001369.3(DNAH5):c.11379G>A (p.Glu3793=)
NM_001369.3(DNAH5):c.11386A>T (p.Thr3796Ser)
NM_001369.3(DNAH5):c.11394G>A (p.Lys3798=)
NM_001369.3(DNAH5):c.11397A>G (p.Leu3799=)
NM_001369.3(DNAH5):c.11415A>G (p.Thr3805=) rs1332328322
NM_001369.3(DNAH5):c.11418A>C (p.Glu3806Asp)
NM_001369.3(DNAH5):c.11419G>C (p.Val3807Leu)
NM_001369.3(DNAH5):c.11433A>C (p.Ser3811=)
NM_001369.3(DNAH5):c.11433A>G (p.Ser3811=) rs2126619793
NM_001369.3(DNAH5):c.11436C>T (p.Ala3812=) rs750689328
NM_001369.3(DNAH5):c.11436_11437delinsAA (p.Ala3812_Arg3813=) rs2126619709
NM_001369.3(DNAH5):c.11448C>T (p.Tyr3816=)
NM_001369.3(DNAH5):c.11455+10del
NM_001369.3(DNAH5):c.11455+11T>C
NM_001369.3(DNAH5):c.11455+14T>C
NM_001369.3(DNAH5):c.11455+15G>T
NM_001369.3(DNAH5):c.11456-20C>A
NM_001369.3(DNAH5):c.11456-20C>T
NM_001369.3(DNAH5):c.11456-7C>T
NM_001369.3(DNAH5):c.11456-9G>A rs2126611325
NM_001369.3(DNAH5):c.11462C>T (p.Thr3821Met)
NM_001369.3(DNAH5):c.11478C>G (p.Leu3826=)
NM_001369.3(DNAH5):c.11481C>T (p.Tyr3827=) rs2126611126
NM_001369.3(DNAH5):c.11487C>G (p.Leu3829=)
NM_001369.3(DNAH5):c.1148T>G (p.Ile383Ser)
NM_001369.3(DNAH5):c.11501G>A (p.Arg3834His)
NM_001369.3(DNAH5):c.11526T>A (p.Thr3842=)
NM_001369.3(DNAH5):c.11534G>T (p.Arg3845Leu)
NM_001369.3(DNAH5):c.11547C>A (p.Gly3849=)
NM_001369.3(DNAH5):c.11547C>T (p.Gly3849=)
NM_001369.3(DNAH5):c.11550A>G (p.Leu3850=)
NM_001369.3(DNAH5):c.11570+12C>T rs536584175
NM_001369.3(DNAH5):c.11570+14C>A
NM_001369.3(DNAH5):c.11570+14C>T
NM_001369.3(DNAH5):c.11570+15G>A
NM_001369.3(DNAH5):c.11570+6_11570+8dup rs2126610451
NM_001369.3(DNAH5):c.11570+7C>T
NM_001369.3(DNAH5):c.11570+7_11570+10dup
NM_001369.3(DNAH5):c.11570+9G>T rs1206430080
NM_001369.3(DNAH5):c.11571-20T>G
NM_001369.3(DNAH5):c.11574T>C (p.Ser3858=) rs188088000
NM_001369.3(DNAH5):c.11585C>T (p.Pro3862Leu)
NM_001369.3(DNAH5):c.11586G>C (p.Pro3862=) rs755874851
NM_001369.3(DNAH5):c.11586G>T (p.Pro3862=) rs755874851
NM_001369.3(DNAH5):c.11598G>A (p.Lys3866=)
NM_001369.3(DNAH5):c.11601G>A (p.Arg3867=) rs535536722
NM_001369.3(DNAH5):c.11610T>C (p.Asn3870=) rs2126607616
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) rs572139897
NM_001369.3(DNAH5):c.11615T>C (p.Ile3872Thr)
NM_001369.3(DNAH5):c.11616C>A (p.Ile3872=)
NM_001369.3(DNAH5):c.11616C>T (p.Ile3872=) rs773699669
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)
NM_001369.3(DNAH5):c.11622C>T (p.His3874=)
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val) rs1044439678
NM_001369.3(DNAH5):c.11634G>A (p.Glu3878=) rs2126607339
NM_001369.3(DNAH5):c.11658G>T (p.Gly3886=)
NM_001369.3(DNAH5):c.11661G>A (p.Leu3887=)
NM_001369.3(DNAH5):c.11670G>A (p.Glu3890=)
NM_001369.3(DNAH5):c.11685C>T (p.Phe3895=) rs149892711
NM_001369.3(DNAH5):c.11686A>G (p.Thr3896Ala)
NM_001369.3(DNAH5):c.11687C>T (p.Thr3896Ile)
NM_001369.3(DNAH5):c.11692T>C (p.Leu3898=)
NM_001369.3(DNAH5):c.11715C>T (p.Ile3905=) rs2126606748
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln) rs761043906
NM_001369.3(DNAH5):c.11739A>G (p.Glu3913=) rs748787177
NM_001369.3(DNAH5):c.11762-17A>C
NM_001369.3(DNAH5):c.11762-18T>C
NM_001369.3(DNAH5):c.11762-20T>C
NM_001369.3(DNAH5):c.11765G>A (p.Gly3922Asp)
NM_001369.3(DNAH5):c.1176G>A (p.Lys392=) rs992976251
NM_001369.3(DNAH5):c.1176G>C (p.Lys392Asn)
NM_001369.3(DNAH5):c.11772A>C (p.Ser3924=) rs764541822
NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr)
NM_001369.3(DNAH5):c.11801C>G (p.Pro3934Arg)
NM_001369.3(DNAH5):c.11802A>G (p.Pro3934=)
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.11805A>G (p.Ser3935=) rs1746208138
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=) rs764968328
NM_001369.3(DNAH5):c.11820C>T (p.Asp3940=)
NM_001369.3(DNAH5):c.1182A>T (p.Thr394=) rs1580874077
NM_001369.3(DNAH5):c.11831T>C (p.Leu3944Pro)
NM_001369.3(DNAH5):c.11847T>C (p.Leu3949=)
NM_001369.3(DNAH5):c.11850C>T (p.Ser3950=) rs778951473
NM_001369.3(DNAH5):c.11859A>G (p.Arg3953=)
NM_001369.3(DNAH5):c.11871T>C (p.Asp3957=)
NM_001369.3(DNAH5):c.11874C>T (p.Val3958=)
NM_001369.3(DNAH5):c.11877T>G (p.Leu3959=) rs756257947
NM_001369.3(DNAH5):c.11883+14G>C
NM_001369.3(DNAH5):c.11883+16A>G
NM_001369.3(DNAH5):c.11883+7G>C
NM_001369.3(DNAH5):c.11884-10G>T
NM_001369.3(DNAH5):c.11884-12T>C
NM_001369.3(DNAH5):c.11884-15C>T
NM_001369.3(DNAH5):c.11884-16C>A
NM_001369.3(DNAH5):c.11884-17T>A
NM_001369.3(DNAH5):c.11884-18dup
NM_001369.3(DNAH5):c.11884-6T>C rs769811671
NM_001369.3(DNAH5):c.11888C>T (p.Ser3963Leu)
NM_001369.3(DNAH5):c.11895T>C (p.Asn3965=)
NM_001369.3(DNAH5):c.11898G>A (p.Glu3966=) rs2126564900
NM_001369.3(DNAH5):c.11913T>C (p.Ile3971=)
NM_001369.3(DNAH5):c.11922T>C (p.Asp3974=)
NM_001369.3(DNAH5):c.11925G>A (p.Lys3975=) rs2126564748
NM_001369.3(DNAH5):c.11931C>T (p.Asn3977=)
NM_001369.3(DNAH5):c.11946T>G (p.Pro3982=)
NM_001369.3(DNAH5):c.1194A>C (p.Val398=)
NM_001369.3(DNAH5):c.11952A>G (p.Pro3984=)
NM_001369.3(DNAH5):c.11957C>T (p.Ala3986Val)
NM_001369.3(DNAH5):c.11958C>T (p.Ala3986=) rs2126564466
NM_001369.3(DNAH5):c.11961T>C (p.Tyr3987=)
NM_001369.3(DNAH5):c.1197+13T>A
NM_001369.3(DNAH5):c.1197+13del
NM_001369.3(DNAH5):c.1197+18A>C
NM_001369.3(DNAH5):c.1197+20T>A
NM_001369.3(DNAH5):c.1197+20T>C
NM_001369.3(DNAH5):c.1197+8C>A rs2151985253
NM_001369.3(DNAH5):c.11970T>C (p.Ser3990=)
NM_001369.3(DNAH5):c.1198-13T>G
NM_001369.3(DNAH5):c.1198-16T>C
NM_001369.3(DNAH5):c.1198-4C>T rs750382999
NM_001369.3(DNAH5):c.1198-5C>T rs2151982382
NM_001369.3(DNAH5):c.1198-8A>T rs1580867586
NM_001369.3(DNAH5):c.11987G>A (p.Arg3996His)
NM_001369.3(DNAH5):c.11994C>T (p.Leu3998=) rs1241523462
NM_001369.3(DNAH5):c.11997T>A (p.Leu3999=) rs939150721
NM_001369.3(DNAH5):c.11997T>C (p.Leu3999=)
NM_001369.3(DNAH5):c.11T>C (p.Ile4Thr)
NM_001369.3(DNAH5):c.12024C>A (p.Thr4008=)
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr)
NM_001369.3(DNAH5):c.12030C>T (p.Ala4010=) rs2126563946
NM_001369.3(DNAH5):c.12033+12A>G
NM_001369.3(DNAH5):c.12033+14A>G
NM_001369.3(DNAH5):c.12033+20G>A
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12034-10T>A
NM_001369.3(DNAH5):c.12034-14A>G
NM_001369.3(DNAH5):c.12034-16A>G
NM_001369.3(DNAH5):c.12034-19T>C
NM_001369.3(DNAH5):c.12034-19del
NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)
NM_001369.3(DNAH5):c.1203A>C (p.Thr401=) rs2151982352
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu)
NM_001369.3(DNAH5):c.12050T>G (p.Val4017Gly)
NM_001369.3(DNAH5):c.12057C>T (p.Ser4019=) rs2126531557
NM_001369.3(DNAH5):c.12059T>C (p.Met4020Thr)
NM_001369.3(DNAH5):c.12072T>C (p.Tyr4024=) rs1375859408
NM_001369.3(DNAH5):c.1207C>A (p.Gln403Lys)
NM_001369.3(DNAH5):c.12081T>A (p.Gly4027=)
NM_001369.3(DNAH5):c.12105G>T (p.Thr4035=) rs199735129
NM_001369.3(DNAH5):c.12114A>G (p.Glu4038=)
NM_001369.3(DNAH5):c.12123A>G (p.Pro4041=)
NM_001369.3(DNAH5):c.12135C>T (p.Leu4045=)
NM_001369.3(DNAH5):c.12136A>G (p.Ile4046Val)
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.3(DNAH5):c.12172T>C (p.Ser4058Pro)
NM_001369.3(DNAH5):c.1217C>A (p.Ser406Tyr)
NM_001369.3(DNAH5):c.121T>C (p.Phe41Leu)
NM_001369.3(DNAH5):c.12201A>G (p.Lys4067=)
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)
NM_001369.3(DNAH5):c.12216T>C (p.Tyr4072=)
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
NM_001369.3(DNAH5):c.12225G>C (p.Met4075Ile)
NM_001369.3(DNAH5):c.12249T>C (p.Ala4083=) rs1744982412
NM_001369.3(DNAH5):c.12255G>A (p.Lys4085=)
NM_001369.3(DNAH5):c.12262C>A (p.Gln4088Lys)
NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His)
NM_001369.3(DNAH5):c.12267G>A (p.Gln4089=)
NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=)
NM_001369.3(DNAH5):c.12276G>C (p.Ala4092=) rs763359823
NM_001369.3(DNAH5):c.12279+13A>G
NM_001369.3(DNAH5):c.12279+16C>T
NM_001369.3(DNAH5):c.12279+19C>G
NM_001369.3(DNAH5):c.12279+9G>A
NM_001369.3(DNAH5):c.12279+9G>T
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
NM_001369.3(DNAH5):c.12280-18G>A
NM_001369.3(DNAH5):c.12280-19C>T
NM_001369.3(DNAH5):c.12280-4A>G rs1561106680
NM_001369.3(DNAH5):c.12280-4A>T rs1561106680
NM_001369.3(DNAH5):c.12280-8A>G
NM_001369.3(DNAH5):c.12285A>G (p.Gly4095=)
NM_001369.3(DNAH5):c.1230C>A (p.Ala410=) rs1449339755
NM_001369.3(DNAH5):c.12323T>C (p.Phe4108Ser)
NM_001369.3(DNAH5):c.12325A>G (p.Met4109Val)
NM_001369.3(DNAH5):c.12334C>T (p.Leu4112=) rs2126519033
NM_001369.3(DNAH5):c.12336G>C (p.Leu4112=) rs2126519017
NM_001369.3(DNAH5):c.1233T>C (p.Tyr411=)
NM_001369.3(DNAH5):c.12342C>T (p.Asp4114=) rs980881291
NM_001369.3(DNAH5):c.12345A>C (p.Ile4115=)
NM_001369.3(DNAH5):c.12375G>C (p.Ala4125=) rs140284455
NM_001369.3(DNAH5):c.12378C>T (p.Phe4126=) rs760658244
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12381C>T (p.Arg4127=)
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=) rs772828833
NM_001369.3(DNAH5):c.12396C>G (p.Thr4132=)
NM_001369.3(DNAH5):c.12397G>A (p.Glu4133Lys)
NM_001369.3(DNAH5):c.12401_12402delinsTC (p.Ala4134Val)
NM_001369.3(DNAH5):c.12402T>G (p.Ala4134=) rs1327666188
NM_001369.3(DNAH5):c.1241A>G (p.Asn414Ser)
NM_001369.3(DNAH5):c.1241A>T (p.Asn414Ile)
NM_001369.3(DNAH5):c.12420T>C (p.Ile4140=)
NM_001369.3(DNAH5):c.12454G>A (p.Asp4152Asn)
NM_001369.3(DNAH5):c.12462A>T (p.Pro4154=)
NM_001369.3(DNAH5):c.12468A>T (p.Gly4156=)
NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=)
NM_001369.3(DNAH5):c.12492A>G (p.Thr4164=) rs141935657
NM_001369.3(DNAH5):c.12495T>C (p.Tyr4165=)
NM_001369.3(DNAH5):c.12499+11_12499+23del
NM_001369.3(DNAH5):c.12499+12A>C
NM_001369.3(DNAH5):c.12499+16C>T
NM_001369.3(DNAH5):c.12499+20C>T
NM_001369.3(DNAH5):c.12499+7C>A rs2126517434
NM_001369.3(DNAH5):c.12499+8C>T
NM_001369.3(DNAH5):c.12500-19A>G
NM_001369.3(DNAH5):c.12500-20C>T
NM_001369.3(DNAH5):c.12500-8C>T rs2126510108
NM_001369.3(DNAH5):c.12500-9C>T rs1744470683
NM_001369.3(DNAH5):c.12501T>C (p.Gly4167=)
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12513C>T (p.Asp4171=) rs547445590
NM_001369.3(DNAH5):c.12516G>T (p.Leu4172=)
NM_001369.3(DNAH5):c.12519G>A (p.Leu4173=) rs2126509949
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
NM_001369.3(DNAH5):c.12549C>A (p.Pro4183=) rs2126509690
NM_001369.3(DNAH5):c.12555G>A (p.Leu4185=)
NM_001369.3(DNAH5):c.12559G>A (p.Ala4187Thr)
NM_001369.3(DNAH5):c.12561A>C (p.Ala4187=)
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=)
NM_001369.3(DNAH5):c.12573G>T (p.Leu4191=)
NM_001369.3(DNAH5):c.12576C>T (p.His4192=)
NM_001369.3(DNAH5):c.12579C>G (p.Ser4193=) rs2126509340
NM_001369.3(DNAH5):c.1257C>T (p.Ser419=) rs2151982228
NM_001369.3(DNAH5):c.12591G>A (p.Glu4197=) rs2126509239
NM_001369.3(DNAH5):c.12600G>A (p.Lys4200=) rs1744451695
NM_001369.3(DNAH5):c.12608C>T (p.Ala4203Val)
NM_001369.3(DNAH5):c.12609C>T (p.Ala4203=)
NM_001369.3(DNAH5):c.12615G>T (p.Gly4205=) rs755597752
NM_001369.3(DNAH5):c.12627C>T (p.Pro4209=) rs370958379
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)
NM_001369.3(DNAH5):c.12654T>C (p.Asn4218=)
NM_001369.3(DNAH5):c.12660T>C (p.Thr4220=) rs2126508689
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
NM_001369.3(DNAH5):c.12690C>T (p.Asp4230=) rs531483632
NM_001369.3(DNAH5):c.12705+11G>A
NM_001369.3(DNAH5):c.12705+11G>T
NM_001369.3(DNAH5):c.12705+13A>C
NM_001369.3(DNAH5):c.12705+13A>G
NM_001369.3(DNAH5):c.12705+15G>C
NM_001369.3(DNAH5):c.12705+16C>T
NM_001369.3(DNAH5):c.12705+20C>T
NM_001369.3(DNAH5):c.12705+7C>T rs2126508365
NM_001369.3(DNAH5):c.12705+9G>A rs990507266
NM_001369.3(DNAH5):c.12706-11A>C
NM_001369.3(DNAH5):c.12706-16C>T
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile)
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.12720C>T (p.Thr4240=) rs756222017
NM_001369.3(DNAH5):c.12728G>A (p.Arg4243His)
NM_001369.3(DNAH5):c.1275G>A (p.Gln425=)
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=) rs561983296
NM_001369.3(DNAH5):c.12774C>T (p.Asp4258=) rs199639743
NM_001369.3(DNAH5):c.12777T>C (p.Tyr4259=) rs1358314506
NM_001369.3(DNAH5):c.12783G>A (p.Lys4261=)
NM_001369.3(DNAH5):c.1278T>C (p.Asp426=) rs2151982189
NM_001369.3(DNAH5):c.12816C>T (p.Phe4272=) rs2126503800
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr)
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=) rs1472495875
NM_001369.3(DNAH5):c.12876C>T (p.Cys4292=) rs2126503530
NM_001369.3(DNAH5):c.12883G>A (p.Val4295Met)
NM_001369.3(DNAH5):c.12906C>T (p.Ile4302=)
NM_001369.3(DNAH5):c.12909+15G>A
NM_001369.3(DNAH5):c.12909+15G>T
NM_001369.3(DNAH5):c.12909+7C>T rs1476942856
NM_001369.3(DNAH5):c.12909+9A>C rs1554019790
NM_001369.3(DNAH5):c.12909+9A>G rs1554019790
NM_001369.3(DNAH5):c.12910-15G>A
NM_001369.3(DNAH5):c.12910-17G>A
NM_001369.3(DNAH5):c.12910-20C>G
NM_001369.3(DNAH5):c.12910-9G>C rs930377551
NM_001369.3(DNAH5):c.12913T>C (p.Leu4305=) rs1744045079
NM_001369.3(DNAH5):c.12921C>T (p.Ala4307=)
NM_001369.3(DNAH5):c.12924T>C (p.Tyr4308=) rs762978621
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.12939G>A (p.Val4313=) rs2126493778
NM_001369.3(DNAH5):c.12948G>A (p.Leu4316=)
NM_001369.3(DNAH5):c.12972C>T (p.Tyr4324=) rs1395775112
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
NM_001369.3(DNAH5):c.12987C>T (p.Ala4329=)
NM_001369.3(DNAH5):c.12990G>A (p.Lys4330=) rs2126493433
NM_001369.3(DNAH5):c.12994G>A (p.Val4332Met)
NM_001369.3(DNAH5):c.12997C>T (p.Leu4333=)
NM_001369.3(DNAH5):c.1299A>G (p.Leu433=)
NM_001369.3(DNAH5):c.129T>C (p.Ile43=) rs2152008893
NM_001369.3(DNAH5):c.13002C>T (p.Asp4334=)
NM_001369.3(DNAH5):c.13005C>A (p.Thr4335=)
NM_001369.3(DNAH5):c.13005C>G (p.Thr4335=) rs755271975
NM_001369.3(DNAH5):c.13023C>G (p.Pro4341=) rs762564245
NM_001369.3(DNAH5):c.13023C>T (p.Pro4341=) rs762564245
NM_001369.3(DNAH5):c.13026G>A (p.Lys4342=)
NM_001369.3(DNAH5):c.13032C>A (p.Thr4344=)
NM_001369.3(DNAH5):c.13039G>A (p.Gly4347Arg)
NM_001369.3(DNAH5):c.13044G>A (p.Gly4348=)
NM_001369.3(DNAH5):c.13059G>A (p.Glu4353=) rs2126492862
NM_001369.3(DNAH5):c.13060G>T (p.Ala4354Ser)
NM_001369.3(DNAH5):c.13061C>T (p.Ala4354Val)
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.13068G>C (p.Val4356=) rs141961399
NM_001369.3(DNAH5):c.13075C>T (p.Leu4359=)
NM_001369.3(DNAH5):c.13083T>C (p.Asp4361=)
NM_001369.3(DNAH5):c.13089G>T (p.Met4363Ile)
NM_001369.3(DNAH5):c.13090C>T (p.Leu4364=)
NM_001369.3(DNAH5):c.13095G>A (p.Glu4365=) rs372604448
NM_001369.3(DNAH5):c.13113T>C (p.Tyr4371=) rs539810401
NM_001369.3(DNAH5):c.13116C>T (p.Val4372=) rs2126492309
NM_001369.3(DNAH5):c.13119C>G (p.Pro4373=)
NM_001369.3(DNAH5):c.13125+10T>C
NM_001369.3(DNAH5):c.13125+11G>A
NM_001369.3(DNAH5):c.13125+17C>T
NM_001369.3(DNAH5):c.13125+18T>C
NM_001369.3(DNAH5):c.13125+8G>A rs1579871092
NM_001369.3(DNAH5):c.13125+8G>C rs1579871092
NM_001369.3(DNAH5):c.13126-13G>A
NM_001369.3(DNAH5):c.13126-7A>G
NM_001369.3(DNAH5):c.1312C>T (p.Leu438=)
NM_001369.3(DNAH5):c.13134G>A (p.Glu4378=) rs2126456591
NM_001369.3(DNAH5):c.13152G>A (p.Gly4384=) rs2126456474
NM_001369.3(DNAH5):c.13152G>T (p.Gly4384=)
NM_001369.3(DNAH5):c.13164T>A (p.Pro4388=) rs2126456298
NM_001369.3(DNAH5):c.13179C>T (p.Leu4393=)
NM_001369.3(DNAH5):c.13188A>G (p.Glu4396=)
NM_001369.3(DNAH5):c.1320+10A>G rs369671081
NM_001369.3(DNAH5):c.1320+14T>C
NM_001369.3(DNAH5):c.1320+16G>A
NM_001369.3(DNAH5):c.1320+18A>G
NM_001369.3(DNAH5):c.1320+9C>T
NM_001369.3(DNAH5):c.1321-10T>C
NM_001369.3(DNAH5):c.1321-19T>C
NM_001369.3(DNAH5):c.1321-27_1321-11del
NM_001369.3(DNAH5):c.1321-8A>C
NM_001369.3(DNAH5):c.13221C>T (p.Val4407=)
NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly)
NM_001369.3(DNAH5):c.13222C>T (p.Arg4408Cys) rs150046963
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)
NM_001369.3(DNAH5):c.13230C>A (p.Thr4410=) rs1743047461
NM_001369.3(DNAH5):c.13233C>T (p.Leu4411=) rs2126455723
NM_001369.3(DNAH5):c.13254T>C (p.Ile4418=) rs2126455593
NM_001369.3(DNAH5):c.13260C>T (p.Gly4420=)
NM_001369.3(DNAH5):c.13266C>T (p.Ile4422=)
NM_001369.3(DNAH5):c.1326C>T (p.Tyr442=) rs1291311803
NM_001369.3(DNAH5):c.13293A>G (p.Ala4431=) rs2126455297
NM_001369.3(DNAH5):c.13294T>C (p.Leu4432=) rs1743039989
NM_001369.3(DNAH5):c.13320C>T (p.Ile4440=) rs2126455088
NM_001369.3(DNAH5):c.1332C>G (p.Leu444=) rs375771650
NM_001369.3(DNAH5):c.1332C>T (p.Leu444=) rs375771650
NM_001369.3(DNAH5):c.13338+13C>A
NM_001369.3(DNAH5):c.13338+18G>A
NM_001369.3(DNAH5):c.13338+18G>T
NM_001369.3(DNAH5):c.13339-16A>G
NM_001369.3(DNAH5):c.13339-16A>T
NM_001369.3(DNAH5):c.13339-18T>C
NM_001369.3(DNAH5):c.13339-5T>C
NM_001369.3(DNAH5):c.13344T>A (p.Ser4448=) rs2126410484
NM_001369.3(DNAH5):c.13362G>T (p.Leu4454=) rs2126410290
NM_001369.3(DNAH5):c.13364G>T (p.Gly4455Val)
NM_001369.3(DNAH5):c.13377T>C (p.Thr4459=) rs2126410152
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
NM_001369.3(DNAH5):c.13388A>G (p.Glu4463Gly)
NM_001369.3(DNAH5):c.13398C>T (p.Ser4466=)
NM_001369.3(DNAH5):c.13407C>A (p.Thr4469=)
NM_001369.3(DNAH5):c.13410G>C (p.Ser4470=) rs368920785
NM_001369.3(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.3(DNAH5):c.13444A>T (p.Met4482Leu)
NM_001369.3(DNAH5):c.13449G>C (p.Thr4483=)
NM_001369.3(DNAH5):c.13452T>A (p.Gly4484=) rs758092290
NM_001369.3(DNAH5):c.13452T>C (p.Gly4484=)
NM_001369.3(DNAH5):c.13452T>G (p.Gly4484=)
NM_001369.3(DNAH5):c.13461C>T (p.Asn4487=) rs572989128
NM_001369.3(DNAH5):c.13462C>T (p.Pro4488Ser)
NM_001369.3(DNAH5):c.13470A>T (p.Gly4490=)
NM_001369.3(DNAH5):c.13482A>C (p.Ala4494=)
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
NM_001369.3(DNAH5):c.13486C>A (p.Arg4496=) rs200901816
NM_001369.3(DNAH5):c.13487G>A (p.Arg4496Gln)
NM_001369.3(DNAH5):c.13491+15T>C
NM_001369.3(DNAH5):c.13491+7G>A rs1579809056
NM_001369.3(DNAH5):c.13491+8C>A
NM_001369.3(DNAH5):c.13491+9T>A
NM_001369.3(DNAH5):c.13492-10C>T rs2126405922
NM_001369.3(DNAH5):c.13492-6G>C rs1742012164
NM_001369.3(DNAH5):c.13492-9C>G
NM_001369.3(DNAH5):c.13492-9C>T
NM_001369.3(DNAH5):c.13497A>G (p.Ile4499Met)
NM_001369.3(DNAH5):c.13506C>G (p.Ala4502=)
NM_001369.3(DNAH5):c.13506C>T (p.Ala4502=) rs2126405614
NM_001369.3(DNAH5):c.13508A>G (p.Asn4503Ser)
NM_001369.3(DNAH5):c.1351C>A (p.Gln451Lys)
NM_001369.3(DNAH5):c.13527C>T (p.Asp4509=)
NM_001369.3(DNAH5):c.13548A>G (p.Glu4516=) rs1742000009
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13569C>T (p.Asp4523=) rs151080414
NM_001369.3(DNAH5):c.13586C>G (p.Pro4529Arg)
NM_001369.3(DNAH5):c.13605C>T (p.Val4535=) rs1211208126
NM_001369.3(DNAH5):c.13608T>C (p.Tyr4536=)
NM_001369.3(DNAH5):c.13611C>G (p.Gly4537=) rs1306261256
NM_001369.3(DNAH5):c.13611C>T (p.Gly4537=)
NM_001369.3(DNAH5):c.13625G>C (p.Gly4542Ala)
NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=)
NM_001369.3(DNAH5):c.13656C>A (p.Leu4552=) rs1561071962
NM_001369.3(DNAH5):c.13675G>T (p.Val4559Leu)
NM_001369.3(DNAH5):c.13680C>G (p.Leu4560=) rs2126403865
NM_001369.3(DNAH5):c.13686G>A (p.Glu4562=) rs766044681
NM_001369.3(DNAH5):c.13696G>C (p.Val4566Leu) rs200891691
NM_001369.3(DNAH5):c.13697T>C (p.Val4566Ala)
NM_001369.3(DNAH5):c.13701A>C (p.Ile4567=)
NM_001369.3(DNAH5):c.13704G>A (p.Arg4568=)
NM_001369.3(DNAH5):c.13704G>C (p.Arg4568Ser)
NM_001369.3(DNAH5):c.13713A>G (p.Ala4571=)
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)
NM_001369.3(DNAH5):c.13723+11T>C
NM_001369.3(DNAH5):c.13723+15A>G
NM_001369.3(DNAH5):c.13724-10T>C
NM_001369.3(DNAH5):c.13724-11G>T
NM_001369.3(DNAH5):c.13724-12T>C
NM_001369.3(DNAH5):c.13724-13A>G
NM_001369.3(DNAH5):c.13724-13A>T
NM_001369.3(DNAH5):c.13724-18_13724-14del
NM_001369.3(DNAH5):c.13724-19T>C
NM_001369.3(DNAH5):c.13724-4G>A
NM_001369.3(DNAH5):c.13738C>T (p.Arg4580Trp)
NM_001369.3(DNAH5):c.13740G>A (p.Arg4580=)
NM_001369.3(DNAH5):c.13749C>G (p.Ser4583=) rs1452713574
NM_001369.3(DNAH5):c.13749C>T (p.Ser4583=)
NM_001369.3(DNAH5):c.13773T>G (p.Val4591=) rs1479332924
NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)
NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=) rs200555581
NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)
NM_001369.3(DNAH5):c.13797C>T (p.Ala4599=) rs375643128
NM_001369.3(DNAH5):c.13798G>T (p.Ala4600Ser)
NM_001369.3(DNAH5):c.13804G>T (p.Asp4602Tyr)
NM_001369.3(DNAH5):c.13807C>T (p.Leu4603Phe)
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)
NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=)
NM_001369.3(DNAH5):c.13869C>G (p.Val4623=)
NM_001369.3(DNAH5):c.138C>T (p.Ser46=) rs561555495
NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu)
NM_001369.3(DNAH5):c.1437C>A (p.Arg479=) rs750516422
NM_001369.3(DNAH5):c.1437C>T (p.Arg479=) rs750516422
NM_001369.3(DNAH5):c.1458C>T (p.Ile486=) rs2151980986
NM_001369.3(DNAH5):c.1464A>G (p.Thr488=) rs2151980971
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.147C>T (p.Asp49=)
NM_001369.3(DNAH5):c.1482A>C (p.Ser494=)
NM_001369.3(DNAH5):c.1485C>G (p.Val495=) rs2151980913
NM_001369.3(DNAH5):c.1486C>T (p.Leu496=)
NM_001369.3(DNAH5):c.1497C>T (p.Ser499=)
NM_001369.3(DNAH5):c.1509G>A (p.Gly503=) rs745901461
NM_001369.3(DNAH5):c.1515A>G (p.Glu505=)
NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu)
NM_001369.3(DNAH5):c.1524C>A (p.Ala508=)
NM_001369.3(DNAH5):c.1524C>G (p.Ala508=) rs2151980816
NM_001369.3(DNAH5):c.1536+11_1536+18del
NM_001369.3(DNAH5):c.1536+14A>C
NM_001369.3(DNAH5):c.1536+17C>T
NM_001369.3(DNAH5):c.1536+18T>A
NM_001369.3(DNAH5):c.1536+19A>G
NM_001369.3(DNAH5):c.1536+7T>C
NM_001369.3(DNAH5):c.1537-12A>G
NM_001369.3(DNAH5):c.1537-12dup
NM_001369.3(DNAH5):c.1537-14T>C
NM_001369.3(DNAH5):c.1537-20T>C
NM_001369.3(DNAH5):c.1539C>A (p.Gly513=) rs778297786
NM_001369.3(DNAH5):c.1539C>T (p.Gly513=)
NM_001369.3(DNAH5):c.1547C>T (p.Ala516Val)
NM_001369.3(DNAH5):c.1551C>T (p.Thr517=) rs1775987355
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=) rs1775984639
NM_001369.3(DNAH5):c.1581C>T (p.Asp527=)
NM_001369.3(DNAH5):c.1585C>G (p.Arg529Gly)
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile)
NM_001369.3(DNAH5):c.159C>A (p.Thr53=)
NM_001369.3(DNAH5):c.159C>T (p.Thr53=) rs773322142
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) rs753367747
NM_001369.3(DNAH5):c.1602C>T (p.Asp534=) rs753367747
NM_001369.3(DNAH5):c.1616A>C (p.Glu539Ala)
NM_001369.3(DNAH5):c.1626G>A (p.Lys542=) rs2151977672
NM_001369.3(DNAH5):c.1638C>T (p.Asp546=) rs375037194
NM_001369.3(DNAH5):c.1641T>C (p.Leu547=) rs751970542
NM_001369.3(DNAH5):c.1644+17A>G rs141672120
NM_001369.3(DNAH5):c.1644+17A>T rs141672120
NM_001369.3(DNAH5):c.1644+7T>G
NM_001369.3(DNAH5):c.1644+8G>A rs2151977626
NM_001369.3(DNAH5):c.1644+9T>G
NM_001369.3(DNAH5):c.1645-20C>G
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=) rs139160176
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)
NM_001369.3(DNAH5):c.1656G>A (p.Arg552=)
NM_001369.3(DNAH5):c.165G>A (p.Val55=)
NM_001369.3(DNAH5):c.1662C>T (p.Phe554=) rs2151964133
NM_001369.3(DNAH5):c.1664T>C (p.Met555Thr)
NM_001369.3(DNAH5):c.1668T>C (p.Asp556=) rs2151964114
NM_001369.3(DNAH5):c.1674A>G (p.Thr558=) rs1351457972
NM_001369.3(DNAH5):c.1680A>G (p.Ala560=) rs1774705591
NM_001369.3(DNAH5):c.1692C>T (p.Asn564=)
NM_001369.3(DNAH5):c.1693A>G (p.Thr565Ala)
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln)
NM_001369.3(DNAH5):c.172G>A (p.Ala58Thr)
NM_001369.3(DNAH5):c.1730+11C>T
NM_001369.3(DNAH5):c.1730+18T>A
NM_001369.3(DNAH5):c.1730+19T>G
NM_001369.3(DNAH5):c.1730+20G>T
NM_001369.3(DNAH5):c.1731-11A>G
NM_001369.3(DNAH5):c.1731-11A>T rs544581376
NM_001369.3(DNAH5):c.1731-15T>C
NM_001369.3(DNAH5):c.1731-17C>T
NM_001369.3(DNAH5):c.173C>A (p.Ala58Asp)
NM_001369.3(DNAH5):c.1746T>C (p.Asn582=) rs371704598
NM_001369.3(DNAH5):c.174C>A (p.Ala58=) rs2152008781
NM_001369.3(DNAH5):c.174C>T (p.Ala58=)
NM_001369.3(DNAH5):c.1788T>C (p.Tyr596=)
NM_001369.3(DNAH5):c.1798A>G (p.Ile600Val)
NM_001369.3(DNAH5):c.1818G>C (p.Leu606=)
NM_001369.3(DNAH5):c.1842T>G (p.Pro614=) rs2151963173
NM_001369.3(DNAH5):c.1855A>G (p.Asn619Asp)
NM_001369.3(DNAH5):c.1860G>A (p.Gln620=)
NM_001369.3(DNAH5):c.1872T>G (p.Ala624=)
NM_001369.3(DNAH5):c.1875A>C (p.Gly625=) rs760104411
NM_001369.3(DNAH5):c.1875A>G (p.Gly625=)
NM_001369.3(DNAH5):c.1882T>C (p.Leu628=) rs143745645
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.1890C>T (p.Ala630=)
NM_001369.3(DNAH5):c.1896G>A (p.Gln632=) rs746476934
NM_001369.3(DNAH5):c.1899C>T (p.Leu633=)
NM_001369.3(DNAH5):c.1902C>T (p.Phe634=)
NM_001369.3(DNAH5):c.1914G>A (p.Gln638=) rs2151962998
NM_001369.3(DNAH5):c.192+11T>C
NM_001369.3(DNAH5):c.192+7T>C
NM_001369.3(DNAH5):c.192+7del rs2152008748
NM_001369.3(DNAH5):c.192+9C>A rs200327229
NM_001369.3(DNAH5):c.193-10T>C rs2152004353
NM_001369.3(DNAH5):c.193-13T>C
NM_001369.3(DNAH5):c.193-15T>A
NM_001369.3(DNAH5):c.193-16T>C
NM_001369.3(DNAH5):c.193-6T>A
NM_001369.3(DNAH5):c.1944A>G (p.Pro648=)
NM_001369.3(DNAH5):c.1947T>C (p.Ala649=)
NM_001369.3(DNAH5):c.1948G>A (p.Val650Met)
NM_001369.3(DNAH5):c.1950G>C (p.Val650=) rs2151962940
NM_001369.3(DNAH5):c.1951C>T (p.Leu651=)
NM_001369.3(DNAH5):c.195T>C (p.Ile65=) rs1051883352
NM_001369.3(DNAH5):c.1974T>C (p.Pro658=)
NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val)
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
NM_001369.3(DNAH5):c.1992C>T (p.Asn664=)
NM_001369.3(DNAH5):c.2001C>T (p.Ala667=) rs1774581519
NM_001369.3(DNAH5):c.2007C>T (p.Val669=)
NM_001369.3(DNAH5):c.200G>T (p.Arg67Ile)
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp)
NM_001369.3(DNAH5):c.2025C>G (p.Val675=)
NM_001369.3(DNAH5):c.2034C>T (p.His678=) rs1425718994
NM_001369.3(DNAH5):c.2035A>G (p.Arg679Gly)
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=) rs182512638
NM_001369.3(DNAH5):c.204T>C (p.Ile68=)
NM_001369.3(DNAH5):c.2052+15T>C
NM_001369.3(DNAH5):c.2052+19A>C
NM_001369.3(DNAH5):c.2052+8C>A
NM_001369.3(DNAH5):c.2052+9C>T rs2151962696
NM_001369.3(DNAH5):c.2053-16del rs2151961502
NM_001369.3(DNAH5):c.2053-20A>T
NM_001369.3(DNAH5):c.2053-9T>C
NM_001369.3(DNAH5):c.2070A>T (p.Val690=) rs2151961452
NM_001369.3(DNAH5):c.2076T>C (p.Leu692=)
NM_001369.3(DNAH5):c.2077G>C (p.Glu693Gln)
NM_001369.3(DNAH5):c.207T>C (p.Asp69=) rs777266031
NM_001369.3(DNAH5):c.2082T>C (p.Ala694=)
NM_001369.3(DNAH5):c.2085A>G (p.Ser695=) rs762493873
NM_001369.3(DNAH5):c.2094G>A (p.Val698=) rs769746319
NM_001369.3(DNAH5):c.2101C>T (p.Pro701Ser)
NM_001369.3(DNAH5):c.2103A>G (p.Pro701=) rs1287386869
NM_001369.3(DNAH5):c.2112G>A (p.Gly704=)
NM_001369.3(DNAH5):c.2115A>G (p.Glu705=)
NM_001369.3(DNAH5):c.2118G>A (p.Leu706=) rs766984347
NM_001369.3(DNAH5):c.2143T>C (p.Leu715=) rs2151961273
NM_001369.3(DNAH5):c.2149T>C (p.Leu717=) rs2151961264
NM_001369.3(DNAH5):c.2152T>C (p.Phe718Leu)
NM_001369.3(DNAH5):c.2175C>A (p.Ala725=)
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.2196T>C (p.Ser732=)
NM_001369.3(DNAH5):c.2199A>G (p.Pro733=)
NM_001369.3(DNAH5):c.2205A>T (p.Ala735=) rs1184076427
NM_001369.3(DNAH5):c.2211C>G (p.Ser737=)
NM_001369.3(DNAH5):c.2211C>T (p.Ser737=) rs878854455
NM_001369.3(DNAH5):c.2223A>G (p.Lys741=)
NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln)
NM_001369.3(DNAH5):c.2232A>G (p.Arg744=)
NM_001369.3(DNAH5):c.2259+12T>C
NM_001369.3(DNAH5):c.2259+14A>G
NM_001369.3(DNAH5):c.2259+14A>T
NM_001369.3(DNAH5):c.2259+16T>G
NM_001369.3(DNAH5):c.2259+20T>C
NM_001369.3(DNAH5):c.2259+9C>G rs2151960990
NM_001369.3(DNAH5):c.2260-19A>C
NM_001369.3(DNAH5):c.2260-7A>T rs530639771
NM_001369.3(DNAH5):c.2268A>G (p.Leu756=)
NM_001369.3(DNAH5):c.2277T>C (p.Tyr759=)
NM_001369.3(DNAH5):c.2286G>A (p.Val762=) rs759849155
NM_001369.3(DNAH5):c.2292A>G (p.Ser764=) rs2151953631
NM_001369.3(DNAH5):c.2313G>A (p.Glu771=) rs1773696261
NM_001369.3(DNAH5):c.2317T>C (p.Leu773=) rs2151953583
NM_001369.3(DNAH5):c.2325C>T (p.Val775=)
NM_001369.3(DNAH5):c.2337C>T (p.Ala779=)
NM_001369.3(DNAH5):c.233G>A (p.Arg78Gln)
NM_001369.3(DNAH5):c.2345A>G (p.Asp782Gly)
NM_001369.3(DNAH5):c.234A>G (p.Arg78=)
NM_001369.3(DNAH5):c.2355C>A (p.Leu785=) rs112238091
NM_001369.3(DNAH5):c.2358A>G (p.Gln786=) rs1773691099
NM_001369.3(DNAH5):c.2360C>T (p.Pro787Leu)
NM_001369.3(DNAH5):c.2373A>T (p.Ala791=)
NM_001369.3(DNAH5):c.2379C>T (p.Thr793=)
NM_001369.3(DNAH5):c.2385A>T (p.Thr795=)
NM_001369.3(DNAH5):c.2389C>T (p.Leu797=)
NM_001369.3(DNAH5):c.2391G>C (p.Leu797=) rs753409819
NM_001369.3(DNAH5):c.2391G>T (p.Leu797=) rs753409819
NM_001369.3(DNAH5):c.2409A>G (p.Leu803=)
NM_001369.3(DNAH5):c.2415C>T (p.Asn805=)
NM_001369.3(DNAH5):c.2416A>G (p.Thr806Ala)
NM_001369.3(DNAH5):c.2425A>G (p.Lys809Glu)
NM_001369.3(DNAH5):c.2431+9G>C rs1773679921
NM_001369.3(DNAH5):c.2432-15T>C
NM_001369.3(DNAH5):c.2432-16T>C
NM_001369.3(DNAH5):c.2432-18T>C
NM_001369.3(DNAH5):c.2432-4A>G
NM_001369.3(DNAH5):c.2432-5C>T
NM_001369.3(DNAH5):c.2432-8T>C rs2151949069
NM_001369.3(DNAH5):c.2448G>A (p.Leu816=)
NM_001369.3(DNAH5):c.2453A>G (p.Asp818Gly)
NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr)
NM_001369.3(DNAH5):c.2457G>A (p.Arg819=)
NM_001369.3(DNAH5):c.2463T>C (p.Asn821=) rs765299019
NM_001369.3(DNAH5):c.2467T>C (p.Leu823=) rs2151948998
NM_001369.3(DNAH5):c.2469G>A (p.Leu823=)
NM_001369.3(DNAH5):c.2490C>T (p.Ala830=)
NM_001369.3(DNAH5):c.2493T>C (p.Ile831=)
NM_001369.3(DNAH5):c.249C>T (p.Tyr83=) rs747750664
NM_001369.3(DNAH5):c.2502A>C (p.Glu834Asp)
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)
NM_001369.3(DNAH5):c.2514G>T (p.Thr838=)
NM_001369.3(DNAH5):c.2520T>C (p.Leu840=) rs1416452557
NM_001369.3(DNAH5):c.2529T>A (p.Leu843=) rs1580766255
NM_001369.3(DNAH5):c.2532C>G (p.Pro844=) rs2151948872
NM_001369.3(DNAH5):c.2541G>A (p.Glu847=) rs1488661269
NM_001369.3(DNAH5):c.2545C>T (p.Leu849=) rs1773146294
NM_001369.3(DNAH5):c.2559G>A (p.Glu853=) rs2151948786
NM_001369.3(DNAH5):c.255A>G (p.Gln85=) rs377179099
NM_001369.3(DNAH5):c.2577+11C>A
NM_001369.3(DNAH5):c.2577+12C>A
NM_001369.3(DNAH5):c.2577+16A>G
NM_001369.3(DNAH5):c.2577+17T>A
NM_001369.3(DNAH5):c.2577+17T>C
NM_001369.3(DNAH5):c.2578-11T>G
NM_001369.3(DNAH5):c.2578-18T>C
NM_001369.3(DNAH5):c.2578-20_2578-19insG
NM_001369.3(DNAH5):c.2578-5G>C rs76559205
NM_001369.3(DNAH5):c.2578-6G>T rs1303708125
NM_001369.3(DNAH5):c.2578-6_2578-4del rs1453545341
NM_001369.3(DNAH5):c.2598A>G (p.Ala866=)
NM_001369.3(DNAH5):c.2609A>G (p.His870Arg)
NM_001369.3(DNAH5):c.2623T>C (p.Leu875=) rs2151943082
NM_001369.3(DNAH5):c.2640C>G (p.Val880=)
NM_001369.3(DNAH5):c.2640C>T (p.Val880=)
NM_001369.3(DNAH5):c.264G>A (p.Glu88=)
NM_001369.3(DNAH5):c.2659T>C (p.Leu887=)
NM_001369.3(DNAH5):c.2673A>G (p.Glu891=) rs1772380664
NM_001369.3(DNAH5):c.2677T>C (p.Leu893=)
NM_001369.3(DNAH5):c.2694T>C (p.Ser898=)
NM_001369.3(DNAH5):c.2703A>T (p.Ile901=) rs1580744784
NM_001369.3(DNAH5):c.2706C>A (p.Ser902=) rs778689338
NM_001369.3(DNAH5):c.2715T>C (p.Asn905=) rs2151942937
NM_001369.3(DNAH5):c.2718T>C (p.Ser906=) rs2151942929
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
NM_001369.3(DNAH5):c.2735A>T (p.Glu912Val)
NM_001369.3(DNAH5):c.2739T>C (p.Ser913=) rs2151942892
NM_001369.3(DNAH5):c.2743+10G>A
NM_001369.3(DNAH5):c.2743+12G>A rs1380292180
NM_001369.3(DNAH5):c.2743+12G>T
NM_001369.3(DNAH5):c.2743+13G>A
NM_001369.3(DNAH5):c.2743+14T>C
NM_001369.3(DNAH5):c.2743+5GA[3]
NM_001369.3(DNAH5):c.2743+7G>T rs2151942878
NM_001369.3(DNAH5):c.2743+8A>T
NM_001369.3(DNAH5):c.2743+9T>C
NM_001369.3(DNAH5):c.2744-10C>A rs1772234629
NM_001369.3(DNAH5):c.2744-20T>C
NM_001369.3(DNAH5):c.2744-33ATCTCT[2]
NM_001369.3(DNAH5):c.2744-5A>T
NM_001369.3(DNAH5):c.2744-6T>C rs1580740899
NM_001369.3(DNAH5):c.2745A>G (p.Ala915=) rs750846850
NM_001369.3(DNAH5):c.277+12T>C
NM_001369.3(DNAH5):c.277+20C>T
NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro)
NM_001369.3(DNAH5):c.278-14T>C
NM_001369.3(DNAH5):c.278-15A>G
NM_001369.3(DNAH5):c.278-4G>A
NM_001369.3(DNAH5):c.278-9C>G rs2151997384
NM_001369.3(DNAH5):c.2781A>G (p.Ser927=)
NM_001369.3(DNAH5):c.2793C>T (p.Ala931=)
NM_001369.3(DNAH5):c.2806C>T (p.Leu936=) rs2151941762
NM_001369.3(DNAH5):c.2808G>A (p.Leu936=)
NM_001369.3(DNAH5):c.2814G>A (p.Leu938=)
NM_001369.3(DNAH5):c.2817G>A (p.Thr939=)
NM_001369.3(DNAH5):c.2820A>G (p.Thr940=) rs2151941737
NM_001369.3(DNAH5):c.2821G>A (p.Val941Ile) rs370080157
NM_001369.3(DNAH5):c.2823C>A (p.Val941=)
NM_001369.3(DNAH5):c.2823C>G (p.Val941=) rs757208843
NM_001369.3(DNAH5):c.2825C>T (p.Thr942Met)
NM_001369.3(DNAH5):c.2826G>A (p.Thr942=)
NM_001369.3(DNAH5):c.2826G>T (p.Thr942=) rs768837837
NM_001369.3(DNAH5):c.2844T>C (p.Thr948=) rs2151941677
NM_001369.3(DNAH5):c.2856G>A (p.Gly952=)
NM_001369.3(DNAH5):c.2863G>A (p.Ala955Thr)
NM_001369.3(DNAH5):c.2866C>T (p.Arg956Cys)
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His) rs752260329
NM_001369.3(DNAH5):c.2868C>T (p.Arg956=)
NM_001369.3(DNAH5):c.2877C>T (p.Leu959=)
NM_001369.3(DNAH5):c.2880T>A (p.Ser960=)
NM_001369.3(DNAH5):c.2880T>G (p.Ser960=) rs2151941591
NM_001369.3(DNAH5):c.2886C>T (p.Phe962=) rs2151941584
NM_001369.3(DNAH5):c.288C>G (p.Gly96=)
NM_001369.3(DNAH5):c.288C>T (p.Gly96=) rs2151997349
NM_001369.3(DNAH5):c.2892T>C (p.His964=) rs2151941566
NM_001369.3(DNAH5):c.2901G>A (p.Met967Ile)
NM_001369.3(DNAH5):c.2907T>G (p.Ala969=)
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln)
NM_001369.3(DNAH5):c.2924G>A (p.Arg975Lys)
NM_001369.3(DNAH5):c.2925G>A (p.Arg975=) rs2151941486
NM_001369.3(DNAH5):c.2931A>G (p.Thr977=)
NM_001369.3(DNAH5):c.2931A>T (p.Thr977=)
NM_001369.3(DNAH5):c.2932C>G (p.Leu978Val)
NM_001369.3(DNAH5):c.2941A>G (p.Ile981Val)
NM_001369.3(DNAH5):c.2945G>A (p.Arg982His)
NM_001369.3(DNAH5):c.294A>T (p.Leu98=) rs1458038548
NM_001369.3(DNAH5):c.2950C>T (p.Arg984Cys)
NM_001369.3(DNAH5):c.2961C>T (p.Ser987=)
NM_001369.3(DNAH5):c.2970A>G (p.Thr990=) rs2151941432
NM_001369.3(DNAH5):c.2980C>T (p.Arg994Trp)
NM_001369.3(DNAH5):c.2983+12G>T
NM_001369.3(DNAH5):c.2983+14G>A
NM_001369.3(DNAH5):c.2984-12G>C
NM_001369.3(DNAH5):c.2984-20C>T
NM_001369.3(DNAH5):c.2984-20del
NM_001369.3(DNAH5):c.2984-5C>T rs1350219806
NM_001369.3(DNAH5):c.2984-6A>C rs2151938834
NM_001369.3(DNAH5):c.298G>A (p.Gly100Arg)
NM_001369.3(DNAH5):c.2991C>T (p.Asn997=)
NM_001369.3(DNAH5):c.2994T>C (p.Ser998=)
NM_001369.3(DNAH5):c.2997C>T (p.Ala999=) rs760587023
NM_001369.3(DNAH5):c.3009G>A (p.Lys1003=)
NM_001369.3(DNAH5):c.300G>T (p.Gly100=)
NM_001369.3(DNAH5):c.3016A>C (p.Ser1006Arg)
NM_001369.3(DNAH5):c.3036A>C (p.Ala1012=)
NM_001369.3(DNAH5):c.303A>G (p.Val101=)
NM_001369.3(DNAH5):c.3051C>T (p.Ala1017=)
NM_001369.3(DNAH5):c.3057C>G (p.Pro1019=) rs2151938636
NM_001369.3(DNAH5):c.3060C>T (p.Asn1020=)
NM_001369.3(DNAH5):c.3090A>G (p.Val1030=) rs1771887319
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
NM_001369.3(DNAH5):c.3120C>T (p.Cys1040=) rs2151938511
NM_001369.3(DNAH5):c.3126C>T (p.Ile1042=)
NM_001369.3(DNAH5):c.3129T>C (p.Ser1043=) rs2151938486
NM_001369.3(DNAH5):c.3141G>A (p.Gly1047=)
NM_001369.3(DNAH5):c.3142G>A (p.Val1048Ile)
NM_001369.3(DNAH5):c.3147A>G (p.Arg1049=) rs1210584346
NM_001369.3(DNAH5):c.3162A>G (p.Glu1054=)
NM_001369.3(DNAH5):c.3174+10G>C rs749250823
NM_001369.3(DNAH5):c.3174+14G>A
NM_001369.3(DNAH5):c.3174+16A>G
NM_001369.3(DNAH5):c.3174+7A>G rs1457339631
NM_001369.3(DNAH5):c.3175-14C>T
NM_001369.3(DNAH5):c.3175-9A>G rs2151938218
NM_001369.3(DNAH5):c.3189A>C (p.Glu1063Asp)
NM_001369.3(DNAH5):c.3200C>T (p.Ala1067Val)
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
NM_001369.3(DNAH5):c.3219A>G (p.Glu1073=) rs2151938127
NM_001369.3(DNAH5):c.3222C>T (p.Asp1074=) rs1771849259
NM_001369.3(DNAH5):c.3234T>C (p.Asp1078=) rs2151938106
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
NM_001369.3(DNAH5):c.3262+10C>A rs1303999221
NM_001369.3(DNAH5):c.3262+10C>G
NM_001369.3(DNAH5):c.3262+13T>A
NM_001369.3(DNAH5):c.3262+20T>G
NM_001369.3(DNAH5):c.3263-13T>G
NM_001369.3(DNAH5):c.3263-19_3263-15del
NM_001369.3(DNAH5):c.3263-4T>C
NM_001369.3(DNAH5):c.3263-7T>C
NM_001369.3(DNAH5):c.3263-7T>G rs1442983174
NM_001369.3(DNAH5):c.3267C>G (p.Thr1089=) rs2151929227
NM_001369.3(DNAH5):c.3276A>C (p.Ile1092=)
NM_001369.3(DNAH5):c.3277G>A (p.Ala1093Thr)
NM_001369.3(DNAH5):c.3279A>C (p.Ala1093=)
NM_001369.3(DNAH5):c.3279A>G (p.Ala1093=) rs764928831
NM_001369.3(DNAH5):c.3285A>C (p.Val1095=)
NM_001369.3(DNAH5):c.3291A>G (p.Leu1097=)
NM_001369.3(DNAH5):c.3306A>G (p.Gln1102=)
NM_001369.3(DNAH5):c.3309C>T (p.Thr1103=)
NM_001369.3(DNAH5):c.3315C>T (p.Asn1105=)
NM_001369.3(DNAH5):c.3336A>G (p.Glu1112=) rs2151929058
NM_001369.3(DNAH5):c.3339C>T (p.Asn1113=) rs2151929049
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)
NM_001369.3(DNAH5):c.3387C>T (p.Ser1129=)
NM_001369.3(DNAH5):c.3390C>T (p.Thr1130=) rs1189840629
NM_001369.3(DNAH5):c.3393A>G (p.Lys1131=) rs2151928916
NM_001369.3(DNAH5):c.3396+10G>A rs1401209111
NM_001369.3(DNAH5):c.3396+9A>C
NM_001369.3(DNAH5):c.3396+9A>G rs1770935026
NM_001369.3(DNAH5):c.3397-15G>C
NM_001369.3(DNAH5):c.3397-16T>C
NM_001369.3(DNAH5):c.3397-17C>T
NM_001369.3(DNAH5):c.3397-20A>G
NM_001369.3(DNAH5):c.3397-8G>A rs200694593
NM_001369.3(DNAH5):c.3408A>T (p.Thr1136=) rs762124795
NM_001369.3(DNAH5):c.3438C>T (p.His1146=)
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
NM_001369.3(DNAH5):c.3462A>G (p.Glu1154=)
NM_001369.3(DNAH5):c.3471G>A (p.Lys1157=) rs865979045
NM_001369.3(DNAH5):c.3473C>T (p.Thr1158Ile)
NM_001369.3(DNAH5):c.3483A>C (p.Thr1161=)
NM_001369.3(DNAH5):c.3483A>G (p.Thr1161=) rs2151920490
NM_001369.3(DNAH5):c.3486G>A (p.Gln1162=) rs2151920483
NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg)
NM_001369.3(DNAH5):c.3513C>A (p.Ser1171=) rs1770119547
NM_001369.3(DNAH5):c.3516G>A (p.Gln1172=) rs2151920417
NM_001369.3(DNAH5):c.3535C>G (p.Leu1179Val)
NM_001369.3(DNAH5):c.3554C>G (p.Ala1185Gly)
NM_001369.3(DNAH5):c.3555T>C (p.Ala1185=)
NM_001369.3(DNAH5):c.3558G>A (p.Glu1186=)
NM_001369.3(DNAH5):c.3564A>G (p.Glu1188=)
NM_001369.3(DNAH5):c.3567T>C (p.Tyr1189=) rs1436338480
NM_001369.3(DNAH5):c.3573T>C (p.Cys1191=) rs756343037
NM_001369.3(DNAH5):c.3573T>G (p.Cys1191Trp)
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
NM_001369.3(DNAH5):c.3598+11_3598+17dup
NM_001369.3(DNAH5):c.3598+16T>C
NM_001369.3(DNAH5):c.3598+19A>G
NM_001369.3(DNAH5):c.3599-7T>C
NM_001369.3(DNAH5):c.3599-8T>A
NM_001369.3(DNAH5):c.3607A>C (p.Lys1203Gln)
NM_001369.3(DNAH5):c.3613G>A (p.Ala1205Thr)
NM_001369.3(DNAH5):c.3615C>T (p.Ala1205=)
NM_001369.3(DNAH5):c.3616C>T (p.Leu1206=)
NM_001369.3(DNAH5):c.3618G>A (p.Leu1206=)
NM_001369.3(DNAH5):c.3624T>C (p.Ala1208=) rs2151919068
NM_001369.3(DNAH5):c.3627G>A (p.Glu1209=) rs1263509043
NM_001369.3(DNAH5):c.3633G>A (p.Lys1211=)
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val) rs766505155
NM_001369.3(DNAH5):c.3643G>T (p.Val1215Phe)
NM_001369.3(DNAH5):c.3648C>T (p.Val1216=) rs1175994969
NM_001369.3(DNAH5):c.3651T>C (p.Ile1217=)
NM_001369.3(DNAH5):c.3657C>T (p.Arg1219=)
NM_001369.3(DNAH5):c.3665A>T (p.Asn1222Ile)
NM_001369.3(DNAH5):c.3681T>C (p.Ser1227=) rs755142785
NM_001369.3(DNAH5):c.3683A>T (p.Glu1228Val)
NM_001369.3(DNAH5):c.3684G>A (p.Glu1228=)
NM_001369.3(DNAH5):c.3693C>T (p.Asn1231=) rs969699608
NM_001369.3(DNAH5):c.3707T>C (p.Ile1236Thr)
NM_001369.3(DNAH5):c.3711A>G (p.Glu1237=) rs2151918811
NM_001369.3(DNAH5):c.3717C>T (p.Phe1239=)
NM_001369.3(DNAH5):c.3729A>C (p.Leu1243=)
NM_001369.3(DNAH5):c.3750A>T (p.Leu1250=) rs577862328
NM_001369.3(DNAH5):c.3753T>C (p.Asp1251=) rs1060504237
NM_001369.3(DNAH5):c.3758T>C (p.Ile1253Thr)
NM_001369.3(DNAH5):c.3761G>A (p.Arg1254Gln)
NM_001369.3(DNAH5):c.3777G>C (p.Ala1259=) rs144893234
NM_001369.3(DNAH5):c.3780G>A (p.Leu1260=) rs2151918565
NM_001369.3(DNAH5):c.3792G>A (p.Arg1264=)
NM_001369.3(DNAH5):c.3804C>T (p.Ile1268=)
NM_001369.3(DNAH5):c.3828T>G (p.Pro1276=) rs1266421281
NM_001369.3(DNAH5):c.3829A>T (p.Ile1277Phe)
NM_001369.3(DNAH5):c.3834+10G>A rs772584808
NM_001369.3(DNAH5):c.3834+12T>A
NM_001369.3(DNAH5):c.3834+7A>G rs2151918452
NM_001369.3(DNAH5):c.3834+8A>C
NM_001369.3(DNAH5):c.3835-11_3835-10insA
NM_001369.3(DNAH5):c.3835-12A>G
NM_001369.3(DNAH5):c.3835-12A>T
NM_001369.3(DNAH5):c.3835-12del
NM_001369.3(DNAH5):c.3835-13T>A
NM_001369.3(DNAH5):c.3835-14C>T
NM_001369.3(DNAH5):c.3835-15C>G
NM_001369.3(DNAH5):c.3835-18T>A
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.3835-3dup rs35398031
NM_001369.3(DNAH5):c.3835-4T>A rs2151914292
NM_001369.3(DNAH5):c.3835-8T>C rs2151914303
NM_001369.3(DNAH5):c.3835-8T>G
NM_001369.3(DNAH5):c.383T>A (p.Val128Glu)
NM_001369.3(DNAH5):c.3846C>G (p.Ala1282=)
NM_001369.3(DNAH5):c.3847C>T (p.Leu1283=)
NM_001369.3(DNAH5):c.3849G>A (p.Leu1283=) rs1769529574
NM_001369.3(DNAH5):c.3849G>T (p.Leu1283=) rs1769529574
NM_001369.3(DNAH5):c.384G>A (p.Val128=)
NM_001369.3(DNAH5):c.384G>C (p.Val128=)
NM_001369.3(DNAH5):c.3855C>T (p.Asn1285=)
NM_001369.3(DNAH5):c.3864A>G (p.Gly1288=) rs756462132
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=) rs970611077
NM_001369.3(DNAH5):c.3887T>C (p.Ile1296Thr)
NM_001369.3(DNAH5):c.3903A>G (p.Thr1301=) rs1769518336
NM_001369.3(DNAH5):c.3908A>G (p.His1303Arg)
NM_001369.3(DNAH5):c.390C>T (p.Phe130=) rs1580909350
NM_001369.3(DNAH5):c.3930G>C (p.Leu1310=)
NM_001369.3(DNAH5):c.3943G>A (p.Glu1315Lys)
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=) rs369432984
NM_001369.3(DNAH5):c.3959T>C (p.Leu1320Ser)
NM_001369.3(DNAH5):c.3966A>C (p.Ser1322=) rs775449337
NM_001369.3(DNAH5):c.3966A>G (p.Ser1322=) rs775449337
NM_001369.3(DNAH5):c.3966_3967inv (p.Ser1322_Leu1323=)
NM_001369.3(DNAH5):c.3972G>A (p.Gln1324=) rs2151913944
NM_001369.3(DNAH5):c.3984G>A (p.Lys1328=) rs1274489051
NM_001369.3(DNAH5):c.3996T>C (p.Ile1332=) rs1580668969
NM_001369.3(DNAH5):c.4003G>A (p.Val1335Met)
NM_001369.3(DNAH5):c.402C>T (p.Asp134=)
NM_001369.3(DNAH5):c.4044C>T (p.Asp1348=) rs2151913836
NM_001369.3(DNAH5):c.4053+150_4053+151dup rs3058927
NM_001369.3(DNAH5):c.4053+7C>G
NM_001369.3(DNAH5):c.4053+7C>T
NM_001369.3(DNAH5):c.4053+9C>T
NM_001369.3(DNAH5):c.4054-10T>G
NM_001369.3(DNAH5):c.4054-16T>C
NM_001369.3(DNAH5):c.4054-17T>C
NM_001369.3(DNAH5):c.4054-18T>C
NM_001369.3(DNAH5):c.4054-19T>A
NM_001369.3(DNAH5):c.4054-5T>C rs2151911701
NM_001369.3(DNAH5):c.4054-6G>C rs574371136
NM_001369.3(DNAH5):c.4056T>C (p.Asn1352=)
NM_001369.3(DNAH5):c.4060C>G (p.Pro1354Ala)
NM_001369.3(DNAH5):c.4075T>C (p.Leu1359=)
NM_001369.3(DNAH5):c.408C>T (p.Ser136=)
NM_001369.3(DNAH5):c.4098C>T (p.Asp1366=) rs1263441445
NM_001369.3(DNAH5):c.4101G>A (p.Arg1367=)
NM_001369.3(DNAH5):c.4104T>C (p.Leu1368=)
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr)
NM_001369.3(DNAH5):c.4116+16T>C rs2151911511
NM_001369.3(DNAH5):c.4116+17C>T
NM_001369.3(DNAH5):c.4116+19A>G
NM_001369.3(DNAH5):c.4116+7T>G
NM_001369.3(DNAH5):c.4117-10T>C
NM_001369.3(DNAH5):c.4117-13G>A
NM_001369.3(DNAH5):c.4117-17A>G
NM_001369.3(DNAH5):c.4117-9T>C
NM_001369.3(DNAH5):c.4138C>T (p.Arg1380Trp)
NM_001369.3(DNAH5):c.4140G>T (p.Arg1380=)
NM_001369.3(DNAH5):c.4146C>T (p.Tyr1382=)
NM_001369.3(DNAH5):c.4152A>C (p.Thr1384=) rs7703349
NM_001369.3(DNAH5):c.4152A>T (p.Thr1384=) rs7703349
NM_001369.3(DNAH5):c.4182G>C (p.Leu1394=)
NM_001369.3(DNAH5):c.4185A>G (p.Pro1395=)
NM_001369.3(DNAH5):c.4209T>C (p.Leu1403=) rs1397223291
NM_001369.3(DNAH5):c.420C>G (p.Thr140=)
NM_001369.3(DNAH5):c.420C>T (p.Thr140=)
NM_001369.3(DNAH5):c.4221G>A (p.Lys1407=)
NM_001369.3(DNAH5):c.4224A>G (p.Gln1408=)
NM_001369.3(DNAH5):c.4225C>T (p.Leu1409=)
NM_001369.3(DNAH5):c.4251T>C (p.Thr1417=) rs2151910839
NM_001369.3(DNAH5):c.4252C>T (p.Leu1418=) rs191439927
NM_001369.3(DNAH5):c.4254G>C (p.Leu1418=)
NM_001369.3(DNAH5):c.4254G>T (p.Leu1418=)
NM_001369.3(DNAH5):c.4255T>C (p.Tyr1419His)
NM_001369.3(DNAH5):c.4276G>A (p.Val1426Ile)
NM_001369.3(DNAH5):c.4278A>C (p.Val1426=)
NM_001369.3(DNAH5):c.4278A>G (p.Val1426=)
NM_001369.3(DNAH5):c.4281T>C (p.Asn1427=)
NM_001369.3(DNAH5):c.4308G>A (p.Glu1436=) rs2151910740
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met)
NM_001369.3(DNAH5):c.4324A>C (p.Ile1442Leu)
NM_001369.3(DNAH5):c.4339T>C (p.Leu1447=)
NM_001369.3(DNAH5):c.4353C>T (p.Asn1451=) rs2151910642
NM_001369.3(DNAH5):c.4355+14T>A
NM_001369.3(DNAH5):c.4355+18T>C
NM_001369.3(DNAH5):c.4355+8A>T
NM_001369.3(DNAH5):c.4356-3_4356-2del rs886038479
NM_001369.3(DNAH5):c.4356-4A>C
NM_001369.3(DNAH5):c.4356-4A>G rs369128105
NM_001369.3(DNAH5):c.4365G>A (p.Lys1455=) rs2151908906
NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp)
NM_001369.3(DNAH5):c.4378T>C (p.Leu1460=)
NM_001369.3(DNAH5):c.438+10A>T rs1232350879
NM_001369.3(DNAH5):c.438+11A>G
NM_001369.3(DNAH5):c.438+18T>C
NM_001369.3(DNAH5):c.438+20G>A
NM_001369.3(DNAH5):c.439-10T>C rs2151995771
NM_001369.3(DNAH5):c.439-12C>T
NM_001369.3(DNAH5):c.439-17T>C
NM_001369.3(DNAH5):c.439-20A>G
NM_001369.3(DNAH5):c.439-8T>C
NM_001369.3(DNAH5):c.4392G>A (p.Gln1464=) rs2151908827
NM_001369.3(DNAH5):c.4398T>C (p.Phe1466=)
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg)
NM_001369.3(DNAH5):c.4410G>A (p.Lys1470=) rs960795516
NM_001369.3(DNAH5):c.4461C>T (p.Ala1487=) rs2151908691
NM_001369.3(DNAH5):c.4464T>C (p.Ser1488=) rs2151908684
NM_001369.3(DNAH5):c.4479G>A (p.Glu1493=)
NM_001369.3(DNAH5):c.4491A>G (p.Glu1497=)
NM_001369.3(DNAH5):c.4509C>G (p.Thr1503=)
NM_001369.3(DNAH5):c.4521G>A (p.Leu1507=) rs2151908548
NM_001369.3(DNAH5):c.4530G>C (p.Gly1510=)
NM_001369.3(DNAH5):c.4533T>C (p.Asn1511=) rs2151908506
NM_001369.3(DNAH5):c.4545G>A (p.Lys1515=)
NM_001369.3(DNAH5):c.4553A>G (p.Asn1518Ser)
NM_001369.3(DNAH5):c.4566A>C (p.Ala1522=) rs775511692
NM_001369.3(DNAH5):c.4573C>T (p.Leu1525=)
NM_001369.3(DNAH5):c.4577A>T (p.Lys1526Ile)
NM_001369.3(DNAH5):c.457T>C (p.Leu153=) rs2151995722
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
NM_001369.3(DNAH5):c.4596+14T>C
NM_001369.3(DNAH5):c.4596+8A>G
NM_001369.3(DNAH5):c.4596+9T>C
NM_001369.3(DNAH5):c.4597-12C>T
NM_001369.3(DNAH5):c.4597-19G>A
NM_001369.3(DNAH5):c.4597-19G>C
NM_001369.3(DNAH5):c.4597-19G>T
NM_001369.3(DNAH5):c.4597-4A>G
NM_001369.3(DNAH5):c.459A>G (p.Leu153=) rs1382955783
NM_001369.3(DNAH5):c.4623G>A (p.Glu1541=)
NM_001369.3(DNAH5):c.4629C>T (p.Asp1543=) rs149049465
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
NM_001369.3(DNAH5):c.4650A>G (p.Gln1550=)
NM_001369.3(DNAH5):c.4659T>C (p.Asn1553=)
NM_001369.3(DNAH5):c.4662A>G (p.Glu1554=)
NM_001369.3(DNAH5):c.4668C>T (p.Asp1556=) rs2151905825
NM_001369.3(DNAH5):c.4677A>G (p.Thr1559=)
NM_001369.3(DNAH5):c.468A>T (p.Ala156=)
NM_001369.3(DNAH5):c.4701C>G (p.Thr1567=)
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=) rs886059985
NM_001369.3(DNAH5):c.4717T>C (p.Leu1573=)
NM_001369.3(DNAH5):c.471T>C (p.Asp157=)
NM_001369.3(DNAH5):c.4730G>A (p.Ser1577Asn)
NM_001369.3(DNAH5):c.4736C>T (p.Ser1579Leu)
NM_001369.3(DNAH5):c.4743C>A (p.Ile1581=) rs1334724006
NM_001369.3(DNAH5):c.4743C>T (p.Ile1581=) rs1334724006
NM_001369.3(DNAH5):c.4752C>T (p.Asn1584=)
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val)
NM_001369.3(DNAH5):c.4773G>A (p.Leu1591=)
NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe)
NM_001369.3(DNAH5):c.4782C>G (p.Ser1594=)
NM_001369.3(DNAH5):c.4785A>G (p.Leu1595=)
NM_001369.3(DNAH5):c.4786C>T (p.Leu1596=) rs2151905567
NM_001369.3(DNAH5):c.4788G>A (p.Leu1596=) rs2151905559
NM_001369.3(DNAH5):c.478C>T (p.Leu160=)
NM_001369.3(DNAH5):c.4796+12A>G
NM_001369.3(DNAH5):c.4796+16A>G
NM_001369.3(DNAH5):c.4796+18C>T
NM_001369.3(DNAH5):c.4796+19T>C
NM_001369.3(DNAH5):c.4796+7A>G rs2151905538
NM_001369.3(DNAH5):c.4797-12T>A
NM_001369.3(DNAH5):c.4797-12T>G
NM_001369.3(DNAH5):c.4797-13T>C
NM_001369.3(DNAH5):c.4797-16C>A
NM_001369.3(DNAH5):c.4797-17C>T
NM_001369.3(DNAH5):c.4797-18A>G
NM_001369.3(DNAH5):c.4797-9T>C rs1237033985
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln)
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr) rs369137751
NM_001369.3(DNAH5):c.480G>A (p.Leu160=) rs2151995671
NM_001369.3(DNAH5):c.4812C>T (p.Phe1604=)
NM_001369.3(DNAH5):c.4818C>T (p.Ala1606=)
NM_001369.3(DNAH5):c.4824T>A (p.Ile1608=)
NM_001369.3(DNAH5):c.4824T>C (p.Ile1608=) rs1016408037
NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=)
NM_001369.3(DNAH5):c.4830A>G (p.Lys1610=)
NM_001369.3(DNAH5):c.483C>T (p.Leu161=)
NM_001369.3(DNAH5):c.4850A>G (p.Asn1617Ser)
NM_001369.3(DNAH5):c.4866C>A (p.Ile1622=)
NM_001369.3(DNAH5):c.486C>T (p.Asn162=)
NM_001369.3(DNAH5):c.4893G>A (p.Leu1631=) rs2151899831
NM_001369.3(DNAH5):c.489T>C (p.Ser163=) rs1580903831
NM_001369.3(DNAH5):c.4911T>C (p.Ala1637=) rs1183245932
NM_001369.3(DNAH5):c.4914C>A (p.Val1638=) rs2151899789
NM_001369.3(DNAH5):c.4932T>C (p.Ile1644=)
NM_001369.3(DNAH5):c.4942C>T (p.Leu1648=)
NM_001369.3(DNAH5):c.4947C>A (p.Pro1649=)
NM_001369.3(DNAH5):c.4950+13T>A
NM_001369.3(DNAH5):c.4950+14_4950+16del
NM_001369.3(DNAH5):c.4950+15_4950+17del
NM_001369.3(DNAH5):c.4950+16T>G
NM_001369.3(DNAH5):c.4950+17del
NM_001369.3(DNAH5):c.4950+18A>G
NM_001369.3(DNAH5):c.4951-17T>C
NM_001369.3(DNAH5):c.4951-4A>C rs1181975457
NM_001369.3(DNAH5):c.4951-4A>T
NM_001369.3(DNAH5):c.4951-5C>T
NM_001369.3(DNAH5):c.4951-6T>C
NM_001369.3(DNAH5):c.4956C>T (p.Ala1652=)
NM_001369.3(DNAH5):c.4960C>A (p.Arg1654=)
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
NM_001369.3(DNAH5):c.4971C>T (p.Asn1657=)
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.4989G>A (p.Val1663=) rs2151883916
NM_001369.3(DNAH5):c.498T>C (p.Arg166=)
NM_001369.3(DNAH5):c.5004G>A (p.Arg1668=)
NM_001369.3(DNAH5):c.5007A>G (p.Ala1669=)
NM_001369.3(DNAH5):c.5010T>C (p.His1670=) rs2151883846
NM_001369.3(DNAH5):c.501G>A (p.Leu167=) rs2151995644
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.3(DNAH5):c.5031G>A (p.Gln1677=) rs1766718203
NM_001369.3(DNAH5):c.5034C>T (p.Cys1678=)
NM_001369.3(DNAH5):c.5045A>G (p.Asp1682Gly)
NM_001369.3(DNAH5):c.504G>C (p.Leu168=) rs770818155
NM_001369.3(DNAH5):c.5051C>A (p.Thr1684Asn)
NM_001369.3(DNAH5):c.5052C>G (p.Thr1684=)
NM_001369.3(DNAH5):c.5055G>A (p.Leu1685=) rs1300753835
NM_001369.3(DNAH5):c.5058G>A (p.Gly1686=)
NM_001369.3(DNAH5):c.5064G>A (p.Leu1688=)
NM_001369.3(DNAH5):c.5067A>G (p.Leu1689=)
NM_001369.3(DNAH5):c.5070A>G (p.Pro1690=)
NM_001369.3(DNAH5):c.5076G>A (p.Leu1692=)
NM_001369.3(DNAH5):c.5082C>T (p.Asp1694=) rs2151883638
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
NM_001369.3(DNAH5):c.5112T>C (p.Thr1704=)
NM_001369.3(DNAH5):c.5114+13G>A
NM_001369.3(DNAH5):c.5114+15T>C
NM_001369.3(DNAH5):c.5114+16C>G
NM_001369.3(DNAH5):c.5114+18T>G
NM_001369.3(DNAH5):c.5114+19T>C
NM_001369.3(DNAH5):c.5115-12C>T
NM_001369.3(DNAH5):c.5115-21_5115-20del
NM_001369.3(DNAH5):c.5115-5_5115-4delinsCC rs2151870553
NM_001369.3(DNAH5):c.5115-5_5115-4inv
NM_001369.3(DNAH5):c.5115-6T>C
NM_001369.3(DNAH5):c.5115-7C>G
NM_001369.3(DNAH5):c.5115-8C>T
NM_001369.3(DNAH5):c.511A>G (p.Ile171Val)
NM_001369.3(DNAH5):c.5131C>A (p.Arg1711=)
NM_001369.3(DNAH5):c.5142T>C (p.Phe1714=) rs2151870424
NM_001369.3(DNAH5):c.5160C>G (p.Val1720=)
NM_001369.3(DNAH5):c.516C>T (p.Phe172=)
NM_001369.3(DNAH5):c.5184T>C (p.Ile1728=) rs757238778
NM_001369.3(DNAH5):c.5187G>A (p.Leu1729=) rs2151870268
NM_001369.3(DNAH5):c.5190G>T (p.Gly1730=)
NM_001369.3(DNAH5):c.5193G>A (p.Gln1731=)
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=)
NM_001369.3(DNAH5):c.5196G>C (p.Ala1732=) rs201484389
NM_001369.3(DNAH5):c.5209A>G (p.Thr1737Ala)
NM_001369.3(DNAH5):c.5218G>T (p.Ala1740Ser)
NM_001369.3(DNAH5):c.5223T>C (p.His1741=)
NM_001369.3(DNAH5):c.522T>G (p.Pro174=)
NM_001369.3(DNAH5):c.5235G>C (p.Val1745=)
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr)
NM_001369.3(DNAH5):c.525T>C (p.Ala175=) rs1326160674
NM_001369.3(DNAH5):c.5268A>G (p.Glu1756=)
NM_001369.3(DNAH5):c.5271+11T>G
NM_001369.3(DNAH5):c.5271+16A>G
NM_001369.3(DNAH5):c.5271+8T>C
NM_001369.3(DNAH5):c.5271+9A>G
NM_001369.3(DNAH5):c.5272-10T>C
NM_001369.3(DNAH5):c.5272-12T>A
NM_001369.3(DNAH5):c.5272-14G>C
NM_001369.3(DNAH5):c.5272-14G>T
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001369.3(DNAH5):c.5272-18T>C
NM_001369.3(DNAH5):c.5272-4A>G rs569920273
NM_001369.3(DNAH5):c.5272-4A>T rs569920273
NM_001369.3(DNAH5):c.5272-5C>T
NM_001369.3(DNAH5):c.5272-7A>G
NM_001369.3(DNAH5):c.5272-9C>T rs555481241
NM_001369.3(DNAH5):c.5274C>A (p.Ile1758=)
NM_001369.3(DNAH5):c.5274C>T (p.Ile1758=) rs2151862148
NM_001369.3(DNAH5):c.5275T>A (p.Tyr1759Asn)
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
NM_001369.3(DNAH5):c.5294T>C (p.Ile1765Thr)
NM_001369.3(DNAH5):c.5310T>C (p.Gly1770=) rs2151861984
NM_001369.3(DNAH5):c.5315C>T (p.Thr1772Met)
NM_001369.3(DNAH5):c.5319T>A (p.Ile1773=)
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
NM_001369.3(DNAH5):c.5346G>A (p.Glu1782=)
NM_001369.3(DNAH5):c.5361T>C (p.Val1787=)
NM_001369.3(DNAH5):c.5367T>G (p.Leu1789=)
NM_001369.3(DNAH5):c.5373T>C (p.Ser1791=)
NM_001369.3(DNAH5):c.5382A>G (p.Glu1794=)
NM_001369.3(DNAH5):c.5391G>A (p.Gln1797=)
NM_001369.3(DNAH5):c.5409G>A (p.Val1803=) rs2151861778
NM_001369.3(DNAH5):c.540C>T (p.Ser180=) rs2151995559
NM_001369.3(DNAH5):c.5442A>G (p.Thr1814=)
NM_001369.3(DNAH5):c.5442A>T (p.Thr1814=)
NM_001369.3(DNAH5):c.5454A>G (p.Leu1818=) rs2151861677
NM_001369.3(DNAH5):c.5460A>G (p.Glu1820=) rs2151861668
NM_001369.3(DNAH5):c.5469A>G (p.Ser1823=)
NM_001369.3(DNAH5):c.5481T>G (p.Ala1827=)
NM_001369.3(DNAH5):c.5484+10T>A
NM_001369.3(DNAH5):c.5484+14A>C
NM_001369.3(DNAH5):c.5484+20A>G
NM_001369.3(DNAH5):c.5484+9A>G
NM_001369.3(DNAH5):c.5485-12T>C
NM_001369.3(DNAH5):c.5485-15T>C
NM_001369.3(DNAH5):c.5485-18C>T
NM_001369.3(DNAH5):c.5485-19C>A
NM_001369.3(DNAH5):c.5485-19C>G
NM_001369.3(DNAH5):c.5485-5A>G
NM_001369.3(DNAH5):c.5485-6C>T
NM_001369.3(DNAH5):c.5485-8T>C
NM_001369.3(DNAH5):c.5490A>T (p.Gly1830=)
NM_001369.3(DNAH5):c.5496A>G (p.Leu1832=) rs2151860590
NM_001369.3(DNAH5):c.5517A>G (p.Thr1839=)
NM_001369.3(DNAH5):c.552C>G (p.Gly184=)
NM_001369.3(DNAH5):c.552C>T (p.Gly184=)
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)
NM_001369.3(DNAH5):c.5566A>G (p.Met1856Val)
NM_001369.3(DNAH5):c.5577T>G (p.Thr1859=) rs2151860373
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
NM_001369.3(DNAH5):c.558C>A (p.Leu186=) rs145895917
NM_001369.3(DNAH5):c.5598A>G (p.Leu1866=)
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys)
NM_001369.3(DNAH5):c.5601C>T (p.Leu1867=) rs2151860302
NM_001369.3(DNAH5):c.5604T>C (p.Asn1868=)
NM_001369.3(DNAH5):c.5607A>G (p.Thr1869=) rs2151860270
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) rs763656985
NM_001369.3(DNAH5):c.5617G>A (p.Val1873Ile)
NM_001369.3(DNAH5):c.5622C>T (p.Thr1874=) rs759459740
NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met)
NM_001369.3(DNAH5):c.5643G>C (p.Thr1881=)
NM_001369.3(DNAH5):c.5649A>G (p.Arg1883=) rs1765074628
NM_001369.3(DNAH5):c.5652G>A (p.Val1884=)
NM_001369.3(DNAH5):c.5676T>C (p.Ile1892=)
NM_001369.3(DNAH5):c.567T>C (p.Leu189=) rs2151995493
NM_001369.3(DNAH5):c.5680G>A (p.Val1894Met)
NM_001369.3(DNAH5):c.57+14G>A
NM_001369.3(DNAH5):c.57+16C>G
NM_001369.3(DNAH5):c.57+16C>T
NM_001369.3(DNAH5):c.57+17T>C
NM_001369.3(DNAH5):c.57+18G>A
NM_001369.3(DNAH5):c.5700T>C (p.Phe1900=)
NM_001369.3(DNAH5):c.5706C>A (p.Asp1902Glu)
NM_001369.3(DNAH5):c.5706C>T (p.Asp1902=)
NM_001369.3(DNAH5):c.5709+12A>G
NM_001369.3(DNAH5):c.5710-10T>C
NM_001369.3(DNAH5):c.5710-14C>T
NM_001369.3(DNAH5):c.5710-17T>C
NM_001369.3(DNAH5):c.5710-19T>G rs2151857572
NM_001369.3(DNAH5):c.5710-7A>T
NM_001369.3(DNAH5):c.5712T>C (p.Cys1904=) rs2151857507
NM_001369.3(DNAH5):c.5715T>C (p.His1905=) rs1236115871
NM_001369.3(DNAH5):c.5716A>G (p.Met1906Val)
NM_001369.3(DNAH5):c.5735T>C (p.Met1912Thr)
NM_001369.3(DNAH5):c.5754A>G (p.Lys1918=) rs1213228715
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=) rs112389411
NM_001369.3(DNAH5):c.5778A>G (p.Glu1926=)
NM_001369.3(DNAH5):c.5787C>T (p.Asp1929=) rs2151857268
NM_001369.3(DNAH5):c.57G>T (p.Thr19=) rs142969794
NM_001369.3(DNAH5):c.58-12C>G
NM_001369.3(DNAH5):c.58-5T>A
NM_001369.3(DNAH5):c.58-6T>C
NM_001369.3(DNAH5):c.58-7C>T rs976389334
NM_001369.3(DNAH5):c.58-7_58-3del
NM_001369.3(DNAH5):c.5821A>T (p.Ile1941Leu)
NM_001369.3(DNAH5):c.5829G>A (p.Gln1943=) rs2151857128
NM_001369.3(DNAH5):c.582C>T (p.Asn194=) rs2151995460
NM_001369.3(DNAH5):c.5838T>C (p.Phe1946=) rs2151857094
NM_001369.3(DNAH5):c.5844C>T (p.Gly1948=) rs2151857081
NM_001369.3(DNAH5):c.5853C>T (p.Asp1951=) rs1475309331
NM_001369.3(DNAH5):c.585T>A (p.Ile195=)
NM_001369.3(DNAH5):c.586C>T (p.Arg196Cys)
NM_001369.3(DNAH5):c.5871A>G (p.Pro1957=) rs1764851174
NM_001369.3(DNAH5):c.5874T>G (p.Leu1958=)
NM_001369.3(DNAH5):c.587G>A (p.Arg196His)
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) rs1764848840
NM_001369.3(DNAH5):c.5882+10C>T
NM_001369.3(DNAH5):c.5882+11C>G
NM_001369.3(DNAH5):c.5882+11C>T
NM_001369.3(DNAH5):c.5882+13T>C
NM_001369.3(DNAH5):c.5882+16T>C
NM_001369.3(DNAH5):c.5882+9A>G
NM_001369.3(DNAH5):c.5883-11T>C
NM_001369.3(DNAH5):c.5883-18A>G
NM_001369.3(DNAH5):c.5883-6del rs2151838387
NM_001369.3(DNAH5):c.5883-9C>A rs1404707187
NM_001369.3(DNAH5):c.5889C>T (p.Tyr1963=) rs2151838342
NM_001369.3(DNAH5):c.5895G>T (p.Thr1965=)
NM_001369.3(DNAH5):c.5898G>A (p.Leu1966=)
NM_001369.3(DNAH5):c.5901T>A (p.Ala1967=) rs2151838295
NM_001369.3(DNAH5):c.591G>A (p.Gln197=)
NM_001369.3(DNAH5):c.5924G>C (p.Gly1975Ala)
NM_001369.3(DNAH5):c.5925G>A (p.Gly1975=)
NM_001369.3(DNAH5):c.5928A>T (p.Gly1976=) rs1172789153
NM_001369.3(DNAH5):c.5937T>G (p.Ala1979=)
NM_001369.3(DNAH5):c.5961A>G (p.Thr1987=)
NM_001369.3(DNAH5):c.5967C>T (p.Thr1989=) rs1179920146
NM_001369.3(DNAH5):c.5970T>C (p.Thr1990=)
NM_001369.3(DNAH5):c.5970T>G (p.Thr1990=) rs767150989
NM_001369.3(DNAH5):c.597C>T (p.Phe199=) rs2151995433
NM_001369.3(DNAH5):c.5994G>C (p.Gly1998=) rs1171499406
NM_001369.3(DNAH5):c.5997A>G (p.Lys1999=)
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
NM_001369.3(DNAH5):c.6003C>G (p.Val2001=) rs372754085
NM_001369.3(DNAH5):c.6012C>T (p.Phe2004=)
NM_001369.3(DNAH5):c.6021A>G (p.Ser2007=) rs758505863
NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg)
NM_001369.3(DNAH5):c.6033T>C (p.Asp2011=)
NM_001369.3(DNAH5):c.6036C>T (p.Phe2012=) rs2151837832
NM_001369.3(DNAH5):c.6039A>G (p.Arg2013=)
NM_001369.3(DNAH5):c.603C>T (p.Ser201=) rs935006138
NM_001369.3(DNAH5):c.6042A>C (p.Gly2014=)
NM_001369.3(DNAH5):c.6048A>G (p.Gly2016=)
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.6061+14T>G
NM_001369.3(DNAH5):c.6061+7G>A rs1334799290
NM_001369.3(DNAH5):c.6061+7G>C rs1334799290
NM_001369.3(DNAH5):c.6061+9T>A rs1400186119
NM_001369.3(DNAH5):c.6062-15A>C
NM_001369.3(DNAH5):c.6062-15A>G
NM_001369.3(DNAH5):c.6062-19A>T
NM_001369.3(DNAH5):c.6062-6T>C rs1471313971
NM_001369.3(DNAH5):c.6062-9C>T rs2151836791
NM_001369.3(DNAH5):c.606C>T (p.Ser202=)
NM_001369.3(DNAH5):c.6072G>A (p.Gln2024=)
NM_001369.3(DNAH5):c.609G>A (p.Leu203=) rs2151995419
NM_001369.3(DNAH5):c.609G>T (p.Leu203=)
NM_001369.3(DNAH5):c.6114T>C (p.Asp2038=) rs772306307
NM_001369.3(DNAH5):c.6117A>G (p.Leu2039=) rs1561373685
NM_001369.3(DNAH5):c.6120A>G (p.Pro2040=) rs1763443730
NM_001369.3(DNAH5):c.6126C>T (p.Leu2042=) rs1763441290
NM_001369.3(DNAH5):c.6129G>A (p.Ser2043=) rs141459197
NM_001369.3(DNAH5):c.6129G>C (p.Ser2043=) rs141459197
NM_001369.3(DNAH5):c.6135A>G (p.Ala2045=)
NM_001369.3(DNAH5):c.6180A>G (p.Lys2060=)
NM_001369.3(DNAH5):c.6189T>C (p.Phe2063=) rs1763432683
NM_001369.3(DNAH5):c.618T>C (p.Phe206=) rs2151995408
NM_001369.3(DNAH5):c.6191T>C (p.Ile2064Thr)
NM_001369.3(DNAH5):c.6197C>T (p.Thr2066Ile)
NM_001369.3(DNAH5):c.6198T>C (p.Thr2066=)
NM_001369.3(DNAH5):c.6201T>C (p.Asp2067=) rs2151836398
NM_001369.3(DNAH5):c.621G>A (p.Val207=)
NM_001369.3(DNAH5):c.6228A>G (p.Glu2076=)
NM_001369.3(DNAH5):c.6235C>T (p.Leu2079Phe)
NM_001369.3(DNAH5):c.6249+12C>A
NM_001369.3(DNAH5):c.6249+14A>G
NM_001369.3(DNAH5):c.6250-11T>G
NM_001369.3(DNAH5):c.6250-12T>C
NM_001369.3(DNAH5):c.6250-18G>A
NM_001369.3(DNAH5):c.6250-19G>A
NM_001369.3(DNAH5):c.6250-9T>C rs1763383856
NM_001369.3(DNAH5):c.6255T>C (p.Pro2085=) rs2151835512
NM_001369.3(DNAH5):c.6264C>G (p.Ala2088=) rs1348689
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
NM_001369.3(DNAH5):c.6267A>C (p.Gly2089=) rs1457752082
NM_001369.3(DNAH5):c.6273G>A (p.Gln2091=)
NM_001369.3(DNAH5):c.6276A>G (p.Glu2092=) rs2151835410
NM_001369.3(DNAH5):c.6282T>C (p.Pro2094=) rs375699422
NM_001369.3(DNAH5):c.6291G>A (p.Leu2097=)
NM_001369.3(DNAH5):c.6297T>A (p.Ile2099=) rs1763374034
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)
NM_001369.3(DNAH5):c.6309A>C (p.Ser2103=)
NM_001369.3(DNAH5):c.630G>A (p.Leu210=) rs1428658834
NM_001369.3(DNAH5):c.630G>C (p.Leu210=)
NM_001369.3(DNAH5):c.6315C>G (p.Ala2105=) rs1275214512
NM_001369.3(DNAH5):c.6347G>A (p.Arg2116Lys)
NM_001369.3(DNAH5):c.6348G>A (p.Arg2116=)
NM_001369.3(DNAH5):c.6351G>C (p.Val2117=)
NM_001369.3(DNAH5):c.6355T>A (p.Leu2119Met)
NM_001369.3(DNAH5):c.6357G>A (p.Leu2119=)
NM_001369.3(DNAH5):c.6363T>C (p.Ser2121=)
NM_001369.3(DNAH5):c.636T>C (p.Gly212=)
NM_001369.3(DNAH5):c.6382G>A (p.Val2128Ile)
NM_001369.3(DNAH5):c.639A>G (p.Ala213=) rs1428773142
NM_001369.3(DNAH5):c.6402T>C (p.Phe2134=)
NM_001369.3(DNAH5):c.6411C>G (p.Leu2137=)
NM_001369.3(DNAH5):c.6414C>T (p.Tyr2138=) rs2151834981
NM_001369.3(DNAH5):c.6420G>T (p.Leu2140=) rs2151834955
NM_001369.3(DNAH5):c.6428A>T (p.Glu2143Val)
NM_001369.3(DNAH5):c.642G>A (p.Gln214=) rs746390393
NM_001369.3(DNAH5):c.6438T>C (p.Ser2146=)
NM_001369.3(DNAH5):c.6444+15A>T
NM_001369.3(DNAH5):c.6444+19C>G
NM_001369.3(DNAH5):c.6444+9del rs2151834848
NM_001369.3(DNAH5):c.6445-10C>T
NM_001369.3(DNAH5):c.6445-14C>G
NM_001369.3(DNAH5):c.6445-19T>C
NM_001369.3(DNAH5):c.6445-4C>G
NM_001369.3(DNAH5):c.6445-5T>C rs2151824083
NM_001369.3(DNAH5):c.6462C>A (p.Gly2154=)
NM_001369.3(DNAH5):c.6465G>A (p.Leu2155=) rs1436835343
NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly)
NM_001369.3(DNAH5):c.6471C>T (p.Asn2157=)
NM_001369.3(DNAH5):c.6474T>A (p.Ile2158=) rs2151823969
NM_001369.3(DNAH5):c.6477G>A (p.Leu2159=)
NM_001369.3(DNAH5):c.6477G>T (p.Leu2159=) rs778815016
NM_001369.3(DNAH5):c.6480A>C (p.Ser2160=) rs1382535223
NM_001369.3(DNAH5):c.6487C>T (p.Arg2163Trp)
NM_001369.3(DNAH5):c.6490A>G (p.Thr2164Ala)
NM_001369.3(DNAH5):c.6493T>C (p.Leu2165=)
NM_001369.3(DNAH5):c.64C>T (p.Leu22=) rs2152009037
NM_001369.3(DNAH5):c.6501A>G (p.Ala2167=)
NM_001369.3(DNAH5):c.6510A>G (p.Arg2170=) rs768106523
NM_001369.3(DNAH5):c.6517C>G (p.Pro2173Ala)
NM_001369.3(DNAH5):c.6527C>T (p.Thr2176Met)
NM_001369.3(DNAH5):c.6528G>A (p.Thr2176=) rs768101989
NM_001369.3(DNAH5):c.6528G>T (p.Thr2176=) rs768101989
NM_001369.3(DNAH5):c.6534C>T (p.Ser2178=)
NM_001369.3(DNAH5):c.6537G>A (p.Thr2179=)
NM_001369.3(DNAH5):c.6540T>C (p.Ile2180=)
NM_001369.3(DNAH5):c.6543C>T (p.Val2181=)
NM_001369.3(DNAH5):c.6547C>T (p.Arg2183Cys)
NM_001369.3(DNAH5):c.6548G>A (p.Arg2183His)
NM_001369.3(DNAH5):c.6552A>G (p.Val2184=)
NM_001369.3(DNAH5):c.6555A>G (p.Leu2185=) rs2151823590
NM_001369.3(DNAH5):c.6557G>A (p.Arg2186Gln)
NM_001369.3(DNAH5):c.6558G>A (p.Arg2186=)
NM_001369.3(DNAH5):c.6570T>G (p.Leu2190=)
NM_001369.3(DNAH5):c.6573T>C (p.Ser2191=)
NM_001369.3(DNAH5):c.6577C>T (p.Leu2193=)
NM_001369.3(DNAH5):c.6579+15T>A
NM_001369.3(DNAH5):c.6579+18A>C rs2151823432
NM_001369.3(DNAH5):c.6580-10del
NM_001369.3(DNAH5):c.6580-15A>C
NM_001369.3(DNAH5):c.6580-20T>G
NM_001369.3(DNAH5):c.6580-9T>G rs2151821541
NM_001369.3(DNAH5):c.6582T>C (p.Ile2194=)
NM_001369.3(DNAH5):c.6591T>C (p.Asp2197=)
NM_001369.3(DNAH5):c.660+20T>C
NM_001369.3(DNAH5):c.660+7A>G
NM_001369.3(DNAH5):c.661-20T>C
NM_001369.3(DNAH5):c.661-5A>C rs779368448
NM_001369.3(DNAH5):c.661-5A>T
NM_001369.3(DNAH5):c.661-8C>T rs1227311322
NM_001369.3(DNAH5):c.661-9T>C
NM_001369.3(DNAH5):c.6612G>A (p.Leu2204=)
NM_001369.3(DNAH5):c.6618A>G (p.Glu2206=)
NM_001369.3(DNAH5):c.6632A>G (p.Asn2211Ser)
NM_001369.3(DNAH5):c.6639T>C (p.Leu2213=) rs2151821349
NM_001369.3(DNAH5):c.6651A>G (p.Ala2217=)
NM_001369.3(DNAH5):c.6664C>A (p.Leu2222Met)
NM_001369.3(DNAH5):c.6666G>T (p.Leu2222=) rs1762463272
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
NM_001369.3(DNAH5):c.6682A>C (p.Arg2228=) rs1762460445
NM_001369.3(DNAH5):c.6687+13A>G
NM_001369.3(DNAH5):c.6687+18G>T
NM_001369.3(DNAH5):c.6688-12T>C
NM_001369.3(DNAH5):c.6688-12T>G
NM_001369.3(DNAH5):c.6688-18A>G
NM_001369.3(DNAH5):c.6688-19G>T
NM_001369.3(DNAH5):c.6696A>G (p.Glu2232=) rs910412533
NM_001369.3(DNAH5):c.6697G>A (p.Ala2233Thr)
NM_001369.3(DNAH5):c.66G>A (p.Leu22=) rs1778385888
NM_001369.3(DNAH5):c.6714T>C (p.His2238=) rs2151814481
NM_001369.3(DNAH5):c.6738C>T (p.Ile2246=) rs1334947617
NM_001369.3(DNAH5):c.6756G>A (p.Gln2252=)
NM_001369.3(DNAH5):c.6757A>C (p.Arg2253=)
NM_001369.3(DNAH5):c.6762G>A (p.Val2254=)
NM_001369.3(DNAH5):c.6763C>A (p.Arg2255=) rs745918507
NM_001369.3(DNAH5):c.6768T>C (p.His2256=)
NM_001369.3(DNAH5):c.6789_6790inv (p.Ser2264Gly)
NM_001369.3(DNAH5):c.6790A>G (p.Ser2264Gly)
NM_001369.3(DNAH5):c.6801G>C (p.Gly2267=)
NM_001369.3(DNAH5):c.6807C>T (p.Thr2269=) rs2151814199
NM_001369.3(DNAH5):c.681C>T (p.Asp227=) rs1580893733
NM_001369.3(DNAH5):c.682A>G (p.Ile228Val)
NM_001369.3(DNAH5):c.6831A>G (p.Arg2277=) rs2151814113
NM_001369.3(DNAH5):c.6841+16G>A
NM_001369.3(DNAH5):c.6841+8G>A rs775306219
NM_001369.3(DNAH5):c.6841+9C>A
NM_001369.3(DNAH5):c.6842-16G>T
NM_001369.3(DNAH5):c.6843T>C (p.Asp2281=) rs767314487
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=) rs774606797
NM_001369.3(DNAH5):c.6860G>A (p.Arg2287Gln)
NM_001369.3(DNAH5):c.6864A>G (p.Glu2288=)
NM_001369.3(DNAH5):c.6879C>T (p.Pro2293=) rs1313742038
NM_001369.3(DNAH5):c.6885G>C (p.Ala2295=) rs762437869
NM_001369.3(DNAH5):c.68A>G (p.Lys23Arg)
NM_001369.3(DNAH5):c.6900G>A (p.Gln2300=) rs745471071
NM_001369.3(DNAH5):c.6906T>C (p.Phe2302=)
NM_001369.3(DNAH5):c.6910C>A (p.Arg2304=) rs537125100
NM_001369.3(DNAH5):c.6910C>T (p.Arg2304Trp)
NM_001369.3(DNAH5):c.6942T>C (p.Asp2314=)
NM_001369.3(DNAH5):c.6964A>C (p.Arg2322=)
NM_001369.3(DNAH5):c.6972A>G (p.Thr2324=) rs563452863
NM_001369.3(DNAH5):c.6980C>A (p.Ala2327Glu)
NM_001369.3(DNAH5):c.6988+13T>C
NM_001369.3(DNAH5):c.6988+18A>T
NM_001369.3(DNAH5):c.6988+19G>T
NM_001369.3(DNAH5):c.6988+9T>C rs2151806939
NM_001369.3(DNAH5):c.6989-10G>T
NM_001369.3(DNAH5):c.6989-18T>C rs2151800885
NM_001369.3(DNAH5):c.6989-4C>T
NM_001369.3(DNAH5):c.6989-6T>C
NM_001369.3(DNAH5):c.6989-7_6989-5dup rs1460888052
NM_001369.3(DNAH5):c.6989-9G>T rs1761233197
NM_001369.3(DNAH5):c.6990G>C (p.Gly2330=)
NM_001369.3(DNAH5):c.6996T>C (p.His2332=)
NM_001369.3(DNAH5):c.6T>C (p.Phe2=) rs1779749420
NM_001369.3(DNAH5):c.7011T>C (p.Leu2337=) rs2151800755
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr)
NM_001369.3(DNAH5):c.7023A>G (p.Val2341=) rs2151800727
NM_001369.3(DNAH5):c.7044T>C (p.Asn2348=) rs2151800646
NM_001369.3(DNAH5):c.705G>A (p.Lys235=)
NM_001369.3(DNAH5):c.7075C>T (p.Leu2359=) rs2151800596
NM_001369.3(DNAH5):c.7080C>T (p.Thr2360=) rs2151800576
NM_001369.3(DNAH5):c.7089T>C (p.Asn2363=) rs547828965
NM_001369.3(DNAH5):c.7104C>T (p.Pro2368=) rs1561333047
NM_001369.3(DNAH5):c.7110T>A (p.Ala2370=)
NM_001369.3(DNAH5):c.7125C>T (p.Ile2375=)
NM_001369.3(DNAH5):c.7143C>T (p.Asn2381=) rs148062042
NM_001369.3(DNAH5):c.7146T>C (p.Ile2382=)
NM_001369.3(DNAH5):c.7149C>T (p.Asp2383=) rs2151800283
NM_001369.3(DNAH5):c.714G>A (p.Thr238=)
NM_001369.3(DNAH5):c.7167C>G (p.Thr2389=) rs377435331
NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile)
NM_001369.3(DNAH5):c.7173A>G (p.Ser2391=)
NM_001369.3(DNAH5):c.7179T>C (p.Asn2393=)
NM_001369.3(DNAH5):c.7200T>G (p.Ser2400=) rs2151800106
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.3(DNAH5):c.7230+10A>T rs2151800023
NM_001369.3(DNAH5):c.7230+17C>G
NM_001369.3(DNAH5):c.7230+20T>C
NM_001369.3(DNAH5):c.7230+8T>C
NM_001369.3(DNAH5):c.7231-5G>T rs2127027842
NM_001369.3(DNAH5):c.7231-9A>C rs945527843
NM_001369.3(DNAH5):c.7231-9_7231-8inv
NM_001369.3(DNAH5):c.7233T>C (p.Gly2411=) rs2127027813
NM_001369.3(DNAH5):c.7251A>G (p.Ser2417=)
NM_001369.3(DNAH5):c.7263A>C (p.Ala2421=) rs2127027512
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
NM_001369.3(DNAH5):c.7278G>A (p.Gln2426=)
NM_001369.3(DNAH5):c.7284C>T (p.Tyr2428=)
NM_001369.3(DNAH5):c.7287C>A (p.Thr2429=) rs762808221
NM_001369.3(DNAH5):c.7287C>G (p.Thr2429=) rs762808221
NM_001369.3(DNAH5):c.7287C>T (p.Thr2429=)
NM_001369.3(DNAH5):c.7288G>A (p.Glu2430Lys)
NM_001369.3(DNAH5):c.7290G>A (p.Glu2430=) rs1760752055
NM_001369.3(DNAH5):c.7293T>A (p.Ser2431=) rs2127027219
NM_001369.3(DNAH5):c.7303T>C (p.Leu2435=)
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7310G>A (p.Arg2437His)
NM_001369.3(DNAH5):c.7320C>T (p.Ile2440=)
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=) rs2127026828
NM_001369.3(DNAH5):c.7355C>T (p.Ala2452Val)
NM_001369.3(DNAH5):c.7356C>T (p.Ala2452=) rs1648859064
NM_001369.3(DNAH5):c.735T>C (p.Asn245=) rs2151992681
NM_001369.3(DNAH5):c.7380C>T (p.Asn2460=)
NM_001369.3(DNAH5):c.7391G>A (p.Gly2464Asp)
NM_001369.3(DNAH5):c.7392C>G (p.Gly2464=) rs2127026199
NM_001369.3(DNAH5):c.7407+11C>T
NM_001369.3(DNAH5):c.7407+13A>C
NM_001369.3(DNAH5):c.7407+13A>G
NM_001369.3(DNAH5):c.7407+15T>C
NM_001369.3(DNAH5):c.7407+18C>G
NM_001369.3(DNAH5):c.7407+4A>C
NM_001369.3(DNAH5):c.7407+7T>G rs371481233
NM_001369.3(DNAH5):c.7407+9C>T
NM_001369.3(DNAH5):c.7408-13C>A
NM_001369.3(DNAH5):c.7408-13C>G
NM_001369.3(DNAH5):c.7408-16T>C
NM_001369.3(DNAH5):c.7408-16T>G
NM_001369.3(DNAH5):c.7408-17G>C
NM_001369.3(DNAH5):c.7408-20A>G
NM_001369.3(DNAH5):c.7408-8C>T rs2127015660
NM_001369.3(DNAH5):c.7408-9C>T
NM_001369.3(DNAH5):c.7410G>A (p.Glu2470=)
NM_001369.3(DNAH5):c.7416C>G (p.Gly2472=)
NM_001369.3(DNAH5):c.7417G>A (p.Gly2473Arg)
NM_001369.3(DNAH5):c.7419G>T (p.Gly2473=)
NM_001369.3(DNAH5):c.7422G>A (p.Glu2474=) rs1471304675
NM_001369.3(DNAH5):c.7446G>A (p.Arg2482=) rs760905001
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=) rs561666802
NM_001369.3(DNAH5):c.7455G>T (p.Val2485=)
NM_001369.3(DNAH5):c.7458C>T (p.Phe2486=) rs1554058794
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
NM_001369.3(DNAH5):c.7461G>T (p.Ala2487=)
NM_001369.3(DNAH5):c.7473C>T (p.Ser2491=)
NM_001369.3(DNAH5):c.7476G>A (p.Ala2492=)
NM_001369.3(DNAH5):c.7482G>A (p.Ala2494=)
NM_001369.3(DNAH5):c.7482G>C (p.Ala2494=)
NM_001369.3(DNAH5):c.7485G>A (p.Ala2495=) rs1760418844
NM_001369.3(DNAH5):c.7485G>C (p.Ala2495=) rs1760418844
NM_001369.3(DNAH5):c.7498G>A (p.Gly2500Arg)
NM_001369.3(DNAH5):c.7500A>G (p.Gly2500=)
NM_001369.3(DNAH5):c.7500A>T (p.Gly2500=)
NM_001369.3(DNAH5):c.7506C>T (p.Arg2502=) rs2127014450
NM_001369.3(DNAH5):c.7509C>G (p.Arg2503=) rs2127014365
NM_001369.3(DNAH5):c.7518C>G (p.Leu2506=) rs1363845512
NM_001369.3(DNAH5):c.7518C>T (p.Leu2506=)
NM_001369.3(DNAH5):c.7524G>C (p.Leu2508=)
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7527C>T (p.Arg2509=) rs2127014131
NM_001369.3(DNAH5):c.7535C>G (p.Pro2512Arg)
NM_001369.3(DNAH5):c.7541G>T (p.Gly2514Val)
NM_001369.3(DNAH5):c.7545G>T (p.Thr2515=) rs1344759999
NM_001369.3(DNAH5):c.7546C>T (p.Leu2516=) rs2127013799
NM_001369.3(DNAH5):c.7552C>T (p.Leu2518=)
NM_001369.3(DNAH5):c.7554G>A (p.Leu2518=) rs767778348
NM_001369.3(DNAH5):c.7559C>T (p.Pro2520Leu)
NM_001369.3(DNAH5):c.7560G>A (p.Pro2520=)
NM_001369.3(DNAH5):c.7563A>G (p.Pro2521=) rs1760382725
NM_001369.3(DNAH5):c.7566G>A (p.Ala2522=)
NM_001369.3(DNAH5):c.7566G>C (p.Ala2522=) rs774555838
NM_001369.3(DNAH5):c.7568G>A (p.Gly2523Glu)
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
NM_001369.3(DNAH5):c.7572C>T (p.Pro2524=)
NM_001369.3(DNAH5):c.7581C>G (p.Thr2527=) rs1047174806
NM_001369.3(DNAH5):c.7581C>T (p.Thr2527=) rs1047174806
NM_001369.3(DNAH5):c.7587C>T (p.Phe2529=)
NM_001369.3(DNAH5):c.7593C>T (p.Tyr2531=)
NM_001369.3(DNAH5):c.7596T>C (p.Tyr2532=) rs920106420
NM_001369.3(DNAH5):c.7599G>T (p.Val2533=) rs2127012872
NM_001369.3(DNAH5):c.7602G>A (p.Ala2534=) rs770309996
NM_001369.3(DNAH5):c.7609+10C>T rs2127012668
NM_001369.3(DNAH5):c.7609+13G>T
NM_001369.3(DNAH5):c.7609+15C>G
NM_001369.3(DNAH5):c.7609+16C>T
NM_001369.3(DNAH5):c.7609+17G>A
NM_001369.3(DNAH5):c.7609+18T>A
NM_001369.3(DNAH5):c.7609+8C>T
NM_001369.3(DNAH5):c.7610-11G>C
NM_001369.3(DNAH5):c.7610-13C>T
NM_001369.3(DNAH5):c.7610-19T>C
NM_001369.3(DNAH5):c.7610-20A>T
NM_001369.3(DNAH5):c.7610-5C>T rs1580357237
NM_001369.3(DNAH5):c.7614A>C (p.Thr2538=) rs756112960
NM_001369.3(DNAH5):c.7614A>G (p.Thr2538=)
NM_001369.3(DNAH5):c.7614A>T (p.Thr2538=) rs756112960
NM_001369.3(DNAH5):c.7619C>T (p.Thr2540Met)
NM_001369.3(DNAH5):c.762G>A (p.Glu254=)
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
NM_001369.3(DNAH5):c.7633C>T (p.Arg2545Cys)
NM_001369.3(DNAH5):c.7638C>G (p.Thr2546=) rs2127007001
NM_001369.3(DNAH5):c.7644A>G (p.Glu2548=)
NM_001369.3(DNAH5):c.7647C>T (p.Tyr2549=)
NM_001369.3(DNAH5):c.7650G>C (p.Leu2550=)
NM_001369.3(DNAH5):c.7653T>C (p.Tyr2551=)
NM_001369.3(DNAH5):c.7656G>T (p.Pro2552=) rs764554950
NM_001369.3(DNAH5):c.765T>C (p.Asp255=) rs767772613
NM_001369.3(DNAH5):c.7665C>T (p.Thr2555=)
NM_001369.3(DNAH5):c.7668C>T (p.Thr2556=)
NM_001369.3(DNAH5):c.7674G>A (p.Glu2558=) rs1760165089
NM_001369.3(DNAH5):c.7677T>C (p.Tyr2559=)
NM_001369.3(DNAH5):c.7683T>C (p.Ser2561=)
NM_001369.3(DNAH5):c.7687C>T (p.Leu2563=)
NM_001369.3(DNAH5):c.7692G>A (p.Val2564=)
NM_001369.3(DNAH5):c.7695A>G (p.Pro2565=)
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
NM_001369.3(DNAH5):c.7707T>C (p.Asn2569=) rs1760158475
NM_001369.3(DNAH5):c.7725A>G (p.Leu2575=)
NM_001369.3(DNAH5):c.7735A>G (p.Ile2579Val)
NM_001369.3(DNAH5):c.7737T>C (p.Ile2579=)
NM_001369.3(DNAH5):c.7738G>A (p.Ala2580Thr)
NM_001369.3(DNAH5):c.7746G>A (p.Gln2582=) rs1396143112
NM_001369.3(DNAH5):c.7752+11T>C
NM_001369.3(DNAH5):c.7752+14T>C
NM_001369.3(DNAH5):c.7753-11C>A
NM_001369.3(DNAH5):c.7753-16A>T
NM_001369.3(DNAH5):c.7753-18C>G
NM_001369.3(DNAH5):c.7753-9del rs2126997386
NM_001369.3(DNAH5):c.7773A>G (p.Glu2591=)
NM_001369.3(DNAH5):c.777A>G (p.Val259=) rs1580893242
NM_001369.3(DNAH5):c.7797A>C (p.Ile2599=)
NM_001369.3(DNAH5):c.7800T>G (p.Ile2600Met)
NM_001369.3(DNAH5):c.7806A>T (p.Gly2602=)
NM_001369.3(DNAH5):c.7830A>G (p.Glu2610=) rs1446485303
NM_001369.3(DNAH5):c.7863T>C (p.Ser2621=) rs2126996520
NM_001369.3(DNAH5):c.7866A>G (p.Ala2622=)
NM_001369.3(DNAH5):c.7870A>G (p.Thr2624Ala)
NM_001369.3(DNAH5):c.7875A>G (p.Pro2625=) rs1759827098
NM_001369.3(DNAH5):c.7878G>A (p.Leu2626=)
NM_001369.3(DNAH5):c.7884C>T (p.Phe2628=)
NM_001369.3(DNAH5):c.7887+10C>G
NM_001369.3(DNAH5):c.7887+16T>A
NM_001369.3(DNAH5):c.7887+7G>A
NM_001369.3(DNAH5):c.7887+8C>A rs1759820258
NM_001369.3(DNAH5):c.7888-11T>C
NM_001369.3(DNAH5):c.7888-14T>C
NM_001369.3(DNAH5):c.7888-15A>G
NM_001369.3(DNAH5):c.7888-18T>C
NM_001369.3(DNAH5):c.7888-6dup rs745582136
NM_001369.3(DNAH5):c.7888-7T>C rs2126914507
NM_001369.3(DNAH5):c.7888-8T>G
NM_001369.3(DNAH5):c.7890G>A (p.Arg2630=) rs2126914337
NM_001369.3(DNAH5):c.7893G>T (p.Thr2631=)
NM_001369.3(DNAH5):c.7902C>T (p.Ser2634=)
NM_001369.3(DNAH5):c.7911T>C (p.Asp2637=) rs2126914186
NM_001369.3(DNAH5):c.7914A>G (p.Lys2638=) rs2126914141
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=) rs748304927
NM_001369.3(DNAH5):c.7926A>G (p.Thr2642=) rs771128631
NM_001369.3(DNAH5):c.7929A>G (p.Thr2643=)
NM_001369.3(DNAH5):c.7929A>T (p.Thr2643=)
NM_001369.3(DNAH5):c.792A>C (p.Thr264=) rs1358293206
NM_001369.3(DNAH5):c.7932T>C (p.Tyr2644=) rs747360419
NM_001369.3(DNAH5):c.7935C>A (p.Gly2645=) rs780409299
NM_001369.3(DNAH5):c.7944G>A (p.Ala2648=)
NM_001369.3(DNAH5):c.7950G>A (p.Lys2650=) rs1229236281
NM_001369.3(DNAH5):c.795A>G (p.Glu265=)
NM_001369.3(DNAH5):c.7965T>C (p.Phe2655=) rs2126913602
NM_001369.3(DNAH5):c.7971T>C (p.Asp2657=) rs1757438475
NM_001369.3(DNAH5):c.798+14del
NM_001369.3(DNAH5):c.798+16C>G
NM_001369.3(DNAH5):c.798+18A>C
NM_001369.3(DNAH5):c.799-10G>A
NM_001369.3(DNAH5):c.799-10G>C rs750556389
NM_001369.3(DNAH5):c.799-12G>A
NM_001369.3(DNAH5):c.799-13C>T
NM_001369.3(DNAH5):c.799-15C>T
NM_001369.3(DNAH5):c.799-16C>T
NM_001369.3(DNAH5):c.799-18T>C
NM_001369.3(DNAH5):c.799-4G>A
NM_001369.3(DNAH5):c.7992C>T (p.Ile2664=)
NM_001369.3(DNAH5):c.7998G>A (p.Glu2666=)
NM_001369.3(DNAH5):c.7A>C (p.Arg3=)
NM_001369.3(DNAH5):c.8010+12C>A
NM_001369.3(DNAH5):c.8010+14A>G
NM_001369.3(DNAH5):c.8010+14A>T
NM_001369.3(DNAH5):c.8010+15T>C
NM_001369.3(DNAH5):c.8010+15T>G
NM_001369.3(DNAH5):c.8010+19G>A
NM_001369.3(DNAH5):c.8010+8_8010+10del
NM_001369.3(DNAH5):c.8011-10T>C
NM_001369.3(DNAH5):c.8011-18G>A
NM_001369.3(DNAH5):c.8011-4G>A rs1331845041
NM_001369.3(DNAH5):c.8011-6T>C
NM_001369.3(DNAH5):c.8011-9C>G
NM_001369.3(DNAH5):c.8011-9C>T
NM_001369.3(DNAH5):c.8016G>T (p.Thr2672=)
NM_001369.3(DNAH5):c.8046A>G (p.Gln2682=)
NM_001369.3(DNAH5):c.8052A>G (p.Gly2684=) rs1757373857
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)
NM_001369.3(DNAH5):c.8086A>G (p.Ser2696Gly)
NM_001369.3(DNAH5):c.8092G>A (p.Val2698Met)
NM_001369.3(DNAH5):c.8094G>C (p.Val2698=)
NM_001369.3(DNAH5):c.8097C>T (p.Asp2699=)
NM_001369.3(DNAH5):c.8109G>A (p.Leu2703=)
NM_001369.3(DNAH5):c.8112A>G (p.Ala2704=) rs1757361572
NM_001369.3(DNAH5):c.8121C>T (p.Ile2707=)
NM_001369.3(DNAH5):c.8127T>C (p.Pro2709=) rs1181593041
NM_001369.3(DNAH5):c.8133T>G (p.Gly2711=) rs2126910344
NM_001369.3(DNAH5):c.8145C>T (p.Asp2715=)
NM_001369.3(DNAH5):c.8149C>T (p.Pro2717Ser)
NM_001369.3(DNAH5):c.8166G>A (p.Arg2722=) rs2126910081
NM_001369.3(DNAH5):c.8170T>C (p.Phe2724Leu)
NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)
NM_001369.3(DNAH5):c.8181T>C (p.Phe2727=)
NM_001369.3(DNAH5):c.8190G>C (p.Thr2730=) rs752656841
NM_001369.3(DNAH5):c.8196C>T (p.Pro2732=) rs1462731565
NM_001369.3(DNAH5):c.819G>C (p.Gln273His)
NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=)
NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=) rs375287005
NM_001369.3(DNAH5):c.8224+13A>G
NM_001369.3(DNAH5):c.8224+14G>C
NM_001369.3(DNAH5):c.8224+17T>G
NM_001369.3(DNAH5):c.8224+20G>C
NM_001369.3(DNAH5):c.8225-10C>A rs1266452931
NM_001369.3(DNAH5):c.8225-10C>G rs1266452931
NM_001369.3(DNAH5):c.8225-10C>T rs1266452931
NM_001369.3(DNAH5):c.8225-14T>C
NM_001369.3(DNAH5):c.8225-18T>C
NM_001369.3(DNAH5):c.8225-6T>C rs935438135
NM_001369.3(DNAH5):c.8225-6T>G
NM_001369.3(DNAH5):c.8238A>G (p.Val2746=)
NM_001369.3(DNAH5):c.8256G>C (p.Gln2752His)
NM_001369.3(DNAH5):c.825G>A (p.Leu275=)
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)
NM_001369.3(DNAH5):c.8277G>A (p.Val2759=)
NM_001369.3(DNAH5):c.8277G>C (p.Val2759=) rs2126900953
NM_001369.3(DNAH5):c.8286T>C (p.Ser2762=) rs1757102574
NM_001369.3(DNAH5):c.828G>A (p.Lys276=)
NM_001369.3(DNAH5):c.8301G>A (p.Val2767=)
NM_001369.3(DNAH5):c.8301G>T (p.Val2767=)
NM_001369.3(DNAH5):c.8307G>T (p.Leu2769=)
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=) rs751595453
NM_001369.3(DNAH5):c.8319A>G (p.Leu2773=)
NM_001369.3(DNAH5):c.8331C>T (p.Thr2777=)
NM_001369.3(DNAH5):c.8333A>G (p.Lys2778Arg)
NM_001369.3(DNAH5):c.8334G>A (p.Lys2778=)
NM_001369.3(DNAH5):c.833C>T (p.Ala278Val)
NM_001369.3(DNAH5):c.834G>T (p.Ala278=)
NM_001369.3(DNAH5):c.8370T>C (p.Tyr2790=)
NM_001369.3(DNAH5):c.8373G>T (p.Val2791=)
NM_001369.3(DNAH5):c.837T>C (p.Asp279=)
NM_001369.3(DNAH5):c.8388T>C (p.Asp2796=) rs1580265726
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp)
NM_001369.3(DNAH5):c.8397G>A (p.Arg2799=) rs773814447
NM_001369.3(DNAH5):c.8397G>T (p.Arg2799=) rs773814447
NM_001369.3(DNAH5):c.8400C>G (p.Val2800=) rs2126899814
NM_001369.3(DNAH5):c.8400C>T (p.Val2800=)
NM_001369.3(DNAH5):c.8409A>G (p.Gly2803=) rs2126899765
NM_001369.3(DNAH5):c.8434A>G (p.Ile2812Val)
NM_001369.3(DNAH5):c.843T>C (p.Val281=)
NM_001369.3(DNAH5):c.8442A>G (p.Glu2814=)
NM_001369.3(DNAH5):c.8448+10A>G rs2126899431
NM_001369.3(DNAH5):c.8448+11C>T
NM_001369.3(DNAH5):c.8448+12T>C
NM_001369.3(DNAH5):c.8448+15A>G
NM_001369.3(DNAH5):c.8448+8A>G rs1390893492
NM_001369.3(DNAH5):c.8449-13A>G
NM_001369.3(DNAH5):c.8449-14T>C
NM_001369.3(DNAH5):c.8449-6C>T rs2126883185
NM_001369.3(DNAH5):c.8449-7T>C rs2126883195
NM_001369.3(DNAH5):c.8460G>A (p.Lys2820=) rs779140703
NM_001369.3(DNAH5):c.8461C>T (p.Leu2821=)
NM_001369.3(DNAH5):c.8469G>A (p.Lys2823=)
NM_001369.3(DNAH5):c.846G>T (p.Gly282=) rs748702437
NM_001369.3(DNAH5):c.8483G>A (p.Arg2828His)
NM_001369.3(DNAH5):c.8496C>T (p.Asp2832=) rs2126882852
NM_001369.3(DNAH5):c.849A>T (p.Pro283=) rs1776999589
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
NM_001369.3(DNAH5):c.8544A>C (p.Val2848=)
NM_001369.3(DNAH5):c.854C>T (p.Ala285Val)
NM_001369.3(DNAH5):c.8553A>G (p.Val2851=) rs1460579595
NM_001369.3(DNAH5):c.8556G>A (p.Glu2852=) rs1186570443
NM_001369.3(DNAH5):c.8562G>A (p.Glu2854=) rs2126882462
NM_001369.3(DNAH5):c.8566G>A (p.Gly2856Ser)
NM_001369.3(DNAH5):c.8568T>C (p.Gly2856=)
NM_001369.3(DNAH5):c.8568T>G (p.Gly2856=) rs1239991919
NM_001369.3(DNAH5):c.8574G>A (p.Glu2858=) rs2126882359
NM_001369.3(DNAH5):c.8580A>G (p.Lys2860=) rs2126882315
NM_001369.3(DNAH5):c.8583C>G (p.Leu2861=) rs951265451
NM_001369.3(DNAH5):c.8584T>C (p.Leu2862=)
NM_001369.3(DNAH5):c.8589G>A (p.Val2863=) rs760542094
NM_001369.3(DNAH5):c.859C>T (p.Leu287=)
NM_001369.3(DNAH5):c.8607A>G (p.Thr2869=)
NM_001369.3(DNAH5):c.8610T>C (p.Tyr2870=) rs1277735188
NM_001369.3(DNAH5):c.8631T>C (p.Asp2877=)
NM_001369.3(DNAH5):c.8637T>C (p.Pro2879=)
NM_001369.3(DNAH5):c.8643T>C (p.Ala2881=) rs1756474070
NM_001369.3(DNAH5):c.8647+8A>C
NM_001369.3(DNAH5):c.8648-13T>C
NM_001369.3(DNAH5):c.8648-8del rs1756011074
NM_001369.3(DNAH5):c.864G>A (p.Glu288=) rs2151990470
NM_001369.3(DNAH5):c.8679A>G (p.Thr2893=)
NM_001369.3(DNAH5):c.8706T>C (p.Ser2902=)
NM_001369.3(DNAH5):c.8715C>T (p.His2905=)
NM_001369.3(DNAH5):c.8721A>G (p.Lys2907=) rs2126869301
NM_001369.3(DNAH5):c.8724G>A (p.Glu2908=)
NM_001369.3(DNAH5):c.8730G>A (p.Leu2910=)
NM_001369.3(DNAH5):c.8732A>G (p.Asn2911Ser)
NM_001369.3(DNAH5):c.8739C>T (p.Phe2913=) rs376250319
NM_001369.3(DNAH5):c.8742G>A (p.Leu2914=) rs2126869139
NM_001369.3(DNAH5):c.8744A>G (p.Gln2915Arg)
NM_001369.3(DNAH5):c.8745G>A (p.Gln2915=)
NM_001369.3(DNAH5):c.8748C>G (p.Leu2916=) rs556119081
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
NM_001369.3(DNAH5):c.8757G>A (p.Glu2919=) rs115776799
NM_001369.3(DNAH5):c.8760C>T (p.Ser2920=) rs769218397
NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys)
NM_001369.3(DNAH5):c.876A>C (p.Lys292Asn)
NM_001369.3(DNAH5):c.8770G>A (p.Ala2924Thr)
NM_001369.3(DNAH5):c.8772C>G (p.Ala2924=)
NM_001369.3(DNAH5):c.8773G>A (p.Gly2925Ser)
NM_001369.3(DNAH5):c.8775C>G (p.Gly2925=) rs2126868777
NM_001369.3(DNAH5):c.8781C>T (p.Asp2927=) rs2126868696
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
NM_001369.3(DNAH5):c.8787G>A (p.Val2929=) rs2126868656
NM_001369.3(DNAH5):c.8799T>A (p.Asp2933Glu)
NM_001369.3(DNAH5):c.8799T>C (p.Asp2933=)
NM_001369.3(DNAH5):c.87G>A (p.Lys29=)
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
NM_001369.3(DNAH5):c.8808T>G (p.Val2936=) rs2126868492
NM_001369.3(DNAH5):c.8811C>T (p.His2937=)
NM_001369.3(DNAH5):c.8814A>G (p.Leu2938=)
NM_001369.3(DNAH5):c.8820+11C>A
NM_001369.3(DNAH5):c.8820+12A>G
NM_001369.3(DNAH5):c.8820+13C>G
NM_001369.3(DNAH5):c.8820+13C>T
NM_001369.3(DNAH5):c.8820+15C>G
NM_001369.3(DNAH5):c.8820+8A>G
NM_001369.3(DNAH5):c.8821-14G>A rs769508388
NM_001369.3(DNAH5):c.8821-16C>T
NM_001369.3(DNAH5):c.8821-5T>C rs368465529
NM_001369.3(DNAH5):c.8821-8T>A
NM_001369.3(DNAH5):c.8821-9A>G
NM_001369.3(DNAH5):c.8823C>A (p.Ile2941=)
NM_001369.3(DNAH5):c.8832C>T (p.Val2944=) rs1457090586
NM_001369.3(DNAH5):c.8835T>G (p.Ile2945Met)
NM_001369.3(DNAH5):c.8841T>C (p.Thr2947=)
NM_001369.3(DNAH5):c.8843C>T (p.Pro2948Leu) rs922452029
NM_001369.3(DNAH5):c.8847G>A (p.Gln2949=)
NM_001369.3(DNAH5):c.884C>A (p.Ser295Tyr) rs375537280
NM_001369.3(DNAH5):c.8850A>G (p.Gly2950=)
NM_001369.3(DNAH5):c.8863G>A (p.Val2955Ile)
NM_001369.3(DNAH5):c.8863G>C (p.Val2955Leu)
NM_001369.3(DNAH5):c.886A>G (p.Lys296Glu)
NM_001369.3(DNAH5):c.8880A>C (p.Ser2960=)
NM_001369.3(DNAH5):c.8898G>T (p.Thr2966=) rs111995400
NM_001369.3(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.3(DNAH5):c.8901G>A (p.Arg2967=) rs778046366
NM_001369.3(DNAH5):c.8902T>C (p.Leu2968=)
NM_001369.3(DNAH5):c.892A>G (p.Asn298Asp)
NM_001369.3(DNAH5):c.894C>T (p.Asn298=)
NM_001369.3(DNAH5):c.8951+11T>A
NM_001369.3(DNAH5):c.8951+14A>G
NM_001369.3(DNAH5):c.8951+15C>T
NM_001369.3(DNAH5):c.8951+16T>A
NM_001369.3(DNAH5):c.8951+18T>C
NM_001369.3(DNAH5):c.8951+7A>G
NM_001369.3(DNAH5):c.8951+8C>G
NM_001369.3(DNAH5):c.8951+9del rs2126836632
NM_001369.3(DNAH5):c.8952-11T>C
NM_001369.3(DNAH5):c.8952-6C>T rs2126814564
NM_001369.3(DNAH5):c.8961C>T (p.Asn2987=) rs973106947
NM_001369.3(DNAH5):c.8964A>G (p.Thr2988=) rs773867466
NM_001369.3(DNAH5):c.8971C>T (p.Leu2991=) rs1754249932
NM_001369.3(DNAH5):c.8973G>A (p.Leu2991=)
NM_001369.3(DNAH5):c.8977G>C (p.Glu2993Gln)
NM_001369.3(DNAH5):c.8988G>A (p.Lys2996=)
NM_001369.3(DNAH5):c.898C>A (p.Leu300Ile)
NM_001369.3(DNAH5):c.8994G>A (p.Leu2998=) rs555690882
NM_001369.3(DNAH5):c.9003A>G (p.Thr3001=) rs2126814142
NM_001369.3(DNAH5):c.9009T>C (p.Gly3003=)
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)
NM_001369.3(DNAH5):c.9027C>G (p.Ile3009Met)
NM_001369.3(DNAH5):c.9048T>C (p.Asn3016=) rs1580180346
NM_001369.3(DNAH5):c.9066A>G (p.Ser3022=) rs2126813671
NM_001369.3(DNAH5):c.9070T>C (p.Leu3024=)
NM_001369.3(DNAH5):c.9078T>C (p.Tyr3026=) rs2126813598
NM_001369.3(DNAH5):c.90G>A (p.Arg30=)
NM_001369.3(DNAH5):c.9102T>C (p.Gly3034=)
NM_001369.3(DNAH5):c.9105+10C>T
NM_001369.3(DNAH5):c.9105+19T>C
NM_001369.3(DNAH5):c.9105+7G>A
NM_001369.3(DNAH5):c.9105+8C>T rs2126813474
NM_001369.3(DNAH5):c.9106-15G>A
NM_001369.3(DNAH5):c.9106-17C>T
NM_001369.3(DNAH5):c.9106-20T>C
NM_001369.3(DNAH5):c.9106-4T>A rs2126811393
NM_001369.3(DNAH5):c.9106-6T>C
NM_001369.3(DNAH5):c.9117A>G (p.Leu3039=) rs753648161
NM_001369.3(DNAH5):c.9123T>C (p.Ala3041=) rs1038405124
NM_001369.3(DNAH5):c.9123T>G (p.Ala3041=) rs1038405124
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
NM_001369.3(DNAH5):c.9147T>C (p.Asn3049=) rs886038481
NM_001369.3(DNAH5):c.9156G>A (p.Leu3052=)
NM_001369.3(DNAH5):c.9159A>C (p.Ala3053=)
NM_001369.3(DNAH5):c.9159A>G (p.Ala3053=)
NM_001369.3(DNAH5):c.9160T>A (p.Ser3054Thr)
NM_001369.3(DNAH5):c.9165C>T (p.Val3055=) rs1580177053
NM_001369.3(DNAH5):c.9183C>T (p.Pro3061=) rs371984312
NM_001369.3(DNAH5):c.9186G>A (p.Arg3062=)
NM_001369.3(DNAH5):c.918C>T (p.Ser306=) rs1776988774
NM_001369.3(DNAH5):c.9192T>C (p.Leu3064=)
NM_001369.3(DNAH5):c.9196A>G (p.Thr3066Ala)
NM_001369.3(DNAH5):c.9201T>C (p.Asn3067=)
NM_001369.3(DNAH5):c.9204G>A (p.Glu3068=) rs2126810830
NM_001369.3(DNAH5):c.9210G>C (p.Leu3070=) rs1580176858
NM_001369.3(DNAH5):c.9210G>T (p.Leu3070=) rs1580176858
NM_001369.3(DNAH5):c.9216C>T (p.Asp3072=) rs778518716
NM_001369.3(DNAH5):c.921G>A (p.Pro307=) rs1247275415
NM_001369.3(DNAH5):c.921G>T (p.Pro307=) rs1247275415
NM_001369.3(DNAH5):c.9222C>T (p.Phe3074=) rs1214502696
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.9231G>C (p.Arg3077=) rs2126810663
NM_001369.3(DNAH5):c.9234C>T (p.Val3078=)
NM_001369.3(DNAH5):c.9252T>A (p.Ile3084=) rs1318129305
NM_001369.3(DNAH5):c.9258C>T (p.Leu3086=)
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
NM_001369.3(DNAH5):c.925G>T (p.Val309Leu)
NM_001369.3(DNAH5):c.926T>C (p.Val309Ala)
NM_001369.3(DNAH5):c.9270A>G (p.Pro3090=) rs1412492545
NM_001369.3(DNAH5):c.9273G>A (p.Val3091=)
NM_001369.3(DNAH5):c.9273G>C (p.Val3091=) rs771017031
NM_001369.3(DNAH5):c.9273G>T (p.Val3091=) rs771017031
NM_001369.3(DNAH5):c.9276G>A (p.Gly3092=) rs2126810381
NM_001369.3(DNAH5):c.9279G>A (p.Glu3093=) rs2126810329
NM_001369.3(DNAH5):c.9286C>A (p.Arg3096=)
NM_001369.3(DNAH5):c.9291C>T (p.Asn3097=) rs2126810276
NM_001369.3(DNAH5):c.9298T>C (p.Leu3100=) rs2126810249
NM_001369.3(DNAH5):c.9312C>G (p.Ala3104=)
NM_001369.3(DNAH5):c.9312C>T (p.Ala3104=)
NM_001369.3(DNAH5):c.9315A>C (p.Leu3105=)
NM_001369.3(DNAH5):c.9321A>G (p.Ser3107=)
NM_001369.3(DNAH5):c.9330A>T (p.Thr3110=)
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340
NM_001369.3(DNAH5):c.936G>A (p.Val312=)
NM_001369.3(DNAH5):c.936G>C (p.Val312=)
NM_001369.3(DNAH5):c.936G>T (p.Val312=) rs2151990289
NM_001369.3(DNAH5):c.9373+13A>G
NM_001369.3(DNAH5):c.9373+8T>A rs573584736
NM_001369.3(DNAH5):c.9373+9G>A rs2126809893
NM_001369.3(DNAH5):c.9374-17A>G
NM_001369.3(DNAH5):c.9374-8C>T
NM_001369.3(DNAH5):c.9387C>T (p.Phe3129=)
NM_001369.3(DNAH5):c.9393T>G (p.Thr3131=)
NM_001369.3(DNAH5):c.93T>A (p.Ala31=) rs2152008979
NM_001369.3(DNAH5):c.93T>C (p.Ala31=)
NM_001369.3(DNAH5):c.9402T>C (p.Asp3134=)
NM_001369.3(DNAH5):c.9411C>T (p.Cys3137=)
NM_001369.3(DNAH5):c.9418G>C (p.Glu3140Gln)
NM_001369.3(DNAH5):c.9420A>G (p.Glu3140=)
NM_001369.3(DNAH5):c.9423C>A (p.Ile3141=) rs2126786434
NM_001369.3(DNAH5):c.9432G>A (p.Glu3144=)
NM_001369.3(DNAH5):c.9450C>T (p.Gly3150=)
NM_001369.3(DNAH5):c.9465G>A (p.Gly3155=)
NM_001369.3(DNAH5):c.9489T>C (p.Tyr3163=) rs185605880
NM_001369.3(DNAH5):c.948T>A (p.Leu316=) rs2151990260
NM_001369.3(DNAH5):c.9503G>A (p.Arg3168Gln)
NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser)
NM_001369.3(DNAH5):c.9514C>G (p.His3172Asp)
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
NM_001369.3(DNAH5):c.951G>C (p.Ala317=) rs768621532
NM_001369.3(DNAH5):c.9522G>T (p.Thr3174=) rs35233147
NM_001369.3(DNAH5):c.9543T>C (p.Phe3181=) rs2126785777
NM_001369.3(DNAH5):c.9546T>C (p.Ile3182=)
NM_001369.3(DNAH5):c.9546T>G (p.Ile3182Met)
NM_001369.3(DNAH5):c.954G>A (p.Ala318=) rs1776983489
NM_001369.3(DNAH5):c.9564A>T (p.Ile3188=)
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)
NM_001369.3(DNAH5):c.9576G>A (p.Lys3192=)
NM_001369.3(DNAH5):c.9586G>A (p.Val3196Met)
NM_001369.3(DNAH5):c.9588G>A (p.Val3196=)
NM_001369.3(DNAH5):c.9594C>A (p.Thr3198=) rs1316399548
NM_001369.3(DNAH5):c.9594C>T (p.Thr3198=) rs1316399548
NM_001369.3(DNAH5):c.9605+14T>A
NM_001369.3(DNAH5):c.9605+14T>C
NM_001369.3(DNAH5):c.9605+15C>G
NM_001369.3(DNAH5):c.9605+20A>G
NM_001369.3(DNAH5):c.9606-18T>G
NM_001369.3(DNAH5):c.960G>A (p.Lys320=)
NM_001369.3(DNAH5):c.9611A>G (p.Asn3204Ser)
NM_001369.3(DNAH5):c.9612T>C (p.Asn3204=) rs751937045
NM_001369.3(DNAH5):c.9618A>C (p.Gly3206=)
NM_001369.3(DNAH5):c.9624A>G (p.Glu3208=) rs2126779894
NM_001369.3(DNAH5):c.9627G>A (p.Lys3209=) rs760165157
NM_001369.3(DNAH5):c.9642A>C (p.Ser3214=)
NM_001369.3(DNAH5):c.9654A>G (p.Ala3218=)
NM_001369.3(DNAH5):c.9670C>T (p.Leu3224=)
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
NM_001369.3(DNAH5):c.9702C>T (p.Ala3234=)
NM_001369.3(DNAH5):c.9704A>G (p.Asn3235Ser) rs142633108
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
NM_001369.3(DNAH5):c.9711A>G (p.Lys3237=) rs2126779434
NM_001369.3(DNAH5):c.971T>C (p.Leu324Pro)
NM_001369.3(DNAH5):c.9720+11A>G
NM_001369.3(DNAH5):c.9720+16C>A
NM_001369.3(DNAH5):c.9720+20T>G
NM_001369.3(DNAH5):c.9721-13T>A
NM_001369.3(DNAH5):c.9721-14T>C
NM_001369.3(DNAH5):c.9721-17G>C
NM_001369.3(DNAH5):c.9721-18T>C
NM_001369.3(DNAH5):c.9721-5_9721-4del rs2126776978
NM_001369.3(DNAH5):c.9721-6A>C rs2126776997
NM_001369.3(DNAH5):c.9721-8del rs560450857
NM_001369.3(DNAH5):c.972G>A (p.Leu324=) rs757404057
NM_001369.3(DNAH5):c.975+10C>T
NM_001369.3(DNAH5):c.975+11A>G rs374516847
NM_001369.3(DNAH5):c.975+16A>C
NM_001369.3(DNAH5):c.975+16A>G
NM_001369.3(DNAH5):c.975+7A>C rs1291374135
NM_001369.3(DNAH5):c.975+8G>A rs1229365810
NM_001369.3(DNAH5):c.975+8G>C rs1229365810
NM_001369.3(DNAH5):c.9750G>A (p.Gln3250=) rs766159473
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9759A>G (p.Glu3253=)
NM_001369.3(DNAH5):c.976-11A>C
NM_001369.3(DNAH5):c.976-11A>G
NM_001369.3(DNAH5):c.976-13C>G
NM_001369.3(DNAH5):c.976-13C>T
NM_001369.3(DNAH5):c.976-4T>C rs375382496
NM_001369.3(DNAH5):c.976-7T>C
NM_001369.3(DNAH5):c.9761A>G (p.Lys3254Arg)
NM_001369.3(DNAH5):c.9765C>A (p.Val3255=)
NM_001369.3(DNAH5):c.9765C>G (p.Val3255=)
NM_001369.3(DNAH5):c.9774G>A (p.Glu3258=) rs2126776667
NM_001369.3(DNAH5):c.9786G>A (p.Val3262=) rs2126776574
NM_001369.3(DNAH5):c.9792C>T (p.Asp3264=) rs1447889163
NM_001369.3(DNAH5):c.9810G>A (p.Val3270=) rs779435246
NM_001369.3(DNAH5):c.982C>T (p.Arg328Trp)
NM_001369.3(DNAH5):c.9831A>G (p.Lys3277=)
NM_001369.3(DNAH5):c.9840T>C (p.Ala3280=) rs1256566430
NM_001369.3(DNAH5):c.9840T>G (p.Ala3280=)
NM_001369.3(DNAH5):c.9849A>G (p.Lys3283=)
NM_001369.3(DNAH5):c.9856G>A (p.Ala3286Thr)
NM_001369.3(DNAH5):c.9864A>G (p.Lys3288=)
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)
NM_001369.3(DNAH5):c.9879G>A (p.Glu3293=) rs764348016
NM_001369.3(DNAH5):c.9882A>C (p.Ala3294=) rs1310264829
NM_001369.3(DNAH5):c.9892T>C (p.Leu3298=)
NM_001369.3(DNAH5):c.9897+13G>A
NM_001369.3(DNAH5):c.9897+13G>C
NM_001369.3(DNAH5):c.9897+7C>A rs2126775713
NM_001369.3(DNAH5):c.9897+8T>G
NM_001369.3(DNAH5):c.9897+9A>C rs774932799
NM_001369.3(DNAH5):c.9897+9_9897+10del
NM_001369.3(DNAH5):c.9898-12T>C
NM_001369.3(DNAH5):c.9898-19C>T
NM_001369.3(DNAH5):c.9898-4C>T rs763470877
NM_001369.3(DNAH5):c.9898-6C>T rs1554039568
NM_001369.3(DNAH5):c.9898-7C>T rs751201560
NM_001369.3(DNAH5):c.9900C>T (p.Thr3300=) rs2126763018
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001369.3(DNAH5):c.9909T>G (p.Pro3303=) rs2126762969
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.9912G>C (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.9912G>T (p.Ser3304=)
NM_001369.3(DNAH5):c.9915C>T (p.Asp3305=) rs2126762928
NM_001369.3(DNAH5):c.9933G>A (p.Thr3311=) rs376212341
NM_001369.3(DNAH5):c.9933G>T (p.Thr3311=) rs376212341
NM_001369.3(DNAH5):c.9942C>T (p.Arg3314=) rs781404108
NM_001369.3(DNAH5):c.9945C>G (p.Pro3315=)
NM_001369.3(DNAH5):c.9948T>A (p.Pro3316=)
NM_001369.3(DNAH5):c.9951C>T (p.His3317=) rs2126762640
NM_001369.3(DNAH5):c.9957C>A (p.Ile3319=)
NM_001369.3(DNAH5):c.9961C>T (p.Arg3321Trp)
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln)
NM_001369.3(DNAH5):c.9963G>C (p.Arg3321=)
NM_001369.3(DNAH5):c.9963G>T (p.Arg3321=)
NM_001369.3(DNAH5):c.9964A>C (p.Ile3322Leu)
NM_001369.3(DNAH5):c.9966C>T (p.Ile3322=) rs1752480559
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile) rs149452082
NM_001369.3(DNAH5):c.9978A>G (p.Val3326=)
NM_001369.3(DNAH5):c.997C>A (p.Arg333=) rs771956532
NM_001369.3(DNAH5):c.9985C>T (p.Leu3329=)
NM_001369.3(DNAH5):c.9987G>C (p.Leu3329=)
NM_001369.3(DNAH5):c.998G>A (p.Arg333Gln)
NM_001369.3(DNAH5):c.9G>A (p.Arg3=)
NM_001372.4(DNAH9):c.10971+10_10971+12del rs112708007
NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)
NM_001375405.1(CEP120):c.1038+13C>T
NM_001375405.1(CEP120):c.1038+18T>A
NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)
NM_001375405.1(CEP120):c.1122A>G (p.Thr374=) rs372737011
NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)
NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)
NM_001375405.1(CEP120):c.1167C>T (p.His389=) rs2127068247
NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)
NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)
NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)
NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)
NM_001375405.1(CEP120):c.1430+7T>C
NM_001375405.1(CEP120):c.1431-11T>A
NM_001375405.1(CEP120):c.1431-15_1431-9del
NM_001375405.1(CEP120):c.1431-21_1431-10del
NM_001375405.1(CEP120):c.1431-4C>T
NM_001375405.1(CEP120):c.1431-9_1431-6del rs1403821471
NM_001375405.1(CEP120):c.1431-9_1431-7del
NM_001375405.1(CEP120):c.1431-9_1431-8insT
NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)
NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)
NM_001375405.1(CEP120):c.1580+11_1580+12dup
NM_001375405.1(CEP120):c.1581-6C>T
NM_001375405.1(CEP120):c.1584T>C (p.Ile528=) rs1223191516
NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)
NM_001375405.1(CEP120):c.162T>C (p.Thr54=)
NM_001375405.1(CEP120):c.1683A>G (p.Lys561=)
NM_001375405.1(CEP120):c.171T>C (p.Ala57=)
NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)
NM_001375405.1(CEP120):c.1763+13A>C rs2127055694
NM_001375405.1(CEP120):c.1763+15A>C
NM_001375405.1(CEP120):c.1764-9T>C
NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)
NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)
NM_001375405.1(CEP120):c.1821A>G (p.Leu607=)
NM_001375405.1(CEP120):c.1860+13G>A
NM_001375405.1(CEP120):c.1861-12T>C
NM_001375405.1(CEP120):c.1861-17T>A rs2127049914
NM_001375405.1(CEP120):c.1861-17T>C rs2127049914
NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)
NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)
NM_001375405.1(CEP120):c.192G>T (p.Ala64=)
NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)
NM_001375405.1(CEP120):c.2014-13C>G rs1228982030
NM_001375405.1(CEP120):c.2022G>A (p.Gln674=)
NM_001375405.1(CEP120):c.207-12G>C
NM_001375405.1(CEP120):c.207-14_207-13del
NM_001375405.1(CEP120):c.207-19A>C
NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)
NM_001375405.1(CEP120):c.2088A>T (p.Ser696=) rs761862745
NM_001375405.1(CEP120):c.2103+13G>A
NM_001375405.1(CEP120):c.2103+20T>G
NM_001375405.1(CEP120):c.2103+20_2103+23del rs2127047195
NM_001375405.1(CEP120):c.2104-12A>G rs1235912647
NM_001375405.1(CEP120):c.2104-15T>G
NM_001375405.1(CEP120):c.2104-15_2104-14insG
NM_001375405.1(CEP120):c.2104-9A>G
NM_001375405.1(CEP120):c.213G>A (p.Gln71=)
NM_001375405.1(CEP120):c.2160G>A (p.Glu720=) rs891338561
NM_001375405.1(CEP120):c.2196+11C>T
NM_001375405.1(CEP120):c.2196+8A>G
NM_001375405.1(CEP120):c.2197-10T>G
NM_001375405.1(CEP120):c.2197-8G>T
NM_001375405.1(CEP120):c.2302C>T (p.Leu768=)
NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)
NM_001375405.1(CEP120):c.234A>G (p.Gln78=)
NM_001375405.1(CEP120):c.2358+10C>T
NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)
NM_001375405.1(CEP120):c.2444G>A (p.Arg815His) rs142792779
NM_001375405.1(CEP120):c.2481+20G>T
NM_001375405.1(CEP120):c.2482-20A>G rs1226218781
NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)
NM_001375405.1(CEP120):c.2581-16C>A
NM_001375405.1(CEP120):c.2581-16_2581-13del rs1386199029
NM_001375405.1(CEP120):c.2726+13A>G
NM_001375405.1(CEP120):c.2726+16G>T
NM_001375405.1(CEP120):c.2726+19T>C
NM_001375405.1(CEP120):c.2726+20T>C
NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)
NM_001375405.1(CEP120):c.285C>T (p.Ile95=)
NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)
NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)
NM_001375405.1(CEP120):c.303C>T (p.Thr101=)
NM_001375405.1(CEP120):c.464-18G>A
NM_001375405.1(CEP120):c.464-19C>A rs776387918
NM_001375405.1(CEP120):c.464-9T>C
NM_001375405.1(CEP120):c.49+9C>T rs774559516
NM_001375405.1(CEP120):c.50-10G>C
NM_001375405.1(CEP120):c.50-17A>G
NM_001375405.1(CEP120):c.528C>T (p.Gly176=)
NM_001375405.1(CEP120):c.60C>T (p.Phe20=)
NM_001375405.1(CEP120):c.613-7T>C
NM_001375405.1(CEP120):c.621A>G (p.Pro207=) rs754583755
NM_001375405.1(CEP120):c.621A>T (p.Pro207=)
NM_001375405.1(CEP120):c.672T>C (p.Ser224=)
NM_001375405.1(CEP120):c.811-14C>G
NM_001375405.1(CEP120):c.882C>T (p.Gly294=)
NM_001377.3(DYNC2H1):c.1000-13T>C
NM_001377.3(DYNC2H1):c.1000-16T>C
NM_001377.3(DYNC2H1):c.1000-20G>C rs2134713164
NM_001377.3(DYNC2H1):c.1000-8C>T
NM_001377.3(DYNC2H1):c.10011T>C (p.Tyr3337=)
NM_001377.3(DYNC2H1):c.10014A>G (p.Pro3338=)
NM_001377.3(DYNC2H1):c.10017A>G (p.Leu3339=)
NM_001377.3(DYNC2H1):c.10018T>C (p.Leu3340=)
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) rs886047573
NM_001377.3(DYNC2H1):c.10026A>C (p.Arg3342=)
NM_001377.3(DYNC2H1):c.10042+10T>A
NM_001377.3(DYNC2H1):c.10042+11G>A
NM_001377.3(DYNC2H1):c.10042+18T>G
NM_001377.3(DYNC2H1):c.10042+7_10042+10del rs1483149779
NM_001377.3(DYNC2H1):c.10043-13T>C
NM_001377.3(DYNC2H1):c.10043-14_10043-13insG
NM_001377.3(DYNC2H1):c.10043-16_10043-15insTT rs763760061
NM_001377.3(DYNC2H1):c.10043-16dup rs763760061
NM_001377.3(DYNC2H1):c.10043-19G>T
NM_001377.3(DYNC2H1):c.10047A>G (p.Pro3349=)
NM_001377.3(DYNC2H1):c.10059A>C (p.Val3353=)
NM_001377.3(DYNC2H1):c.10065A>T (p.Ile3355=)
NM_001377.3(DYNC2H1):c.10068T>G (p.Gly3356=)
NM_001377.3(DYNC2H1):c.10080T>A (p.Ile3360=)
NM_001377.3(DYNC2H1):c.10101C>A (p.Arg3367=)
NM_001377.3(DYNC2H1):c.10104C>G (p.Leu3368=)
NM_001377.3(DYNC2H1):c.10108T>C (p.Leu3370=)
NM_001377.3(DYNC2H1):c.10116A>C (p.Thr3372=)
NM_001377.3(DYNC2H1):c.10122C>T (p.Asn3374=)
NM_001377.3(DYNC2H1):c.10131T>A (p.Pro3377=)
NM_001377.3(DYNC2H1):c.10134T>C (p.Phe3378=)
NM_001377.3(DYNC2H1):c.10143G>T (p.Pro3381=)
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10167G>A (p.Glu3389=)
NM_001377.3(DYNC2H1):c.10176T>C (p.Phe3392=)
NM_001377.3(DYNC2H1):c.10179T>C (p.Thr3393=)
NM_001377.3(DYNC2H1):c.10186A>C (p.Arg3396=)
NM_001377.3(DYNC2H1):c.10206+10G>A
NM_001377.3(DYNC2H1):c.10206+10G>C
NM_001377.3(DYNC2H1):c.10206+11A>T
NM_001377.3(DYNC2H1):c.10206+11ATA[2]
NM_001377.3(DYNC2H1):c.10206+14A>G
NM_001377.3(DYNC2H1):c.10206+6_10206+9dup
NM_001377.3(DYNC2H1):c.10206+7A>G
NM_001377.3(DYNC2H1):c.10207-10T>C
NM_001377.3(DYNC2H1):c.10207-16T>G
NM_001377.3(DYNC2H1):c.10207-20T>A
NM_001377.3(DYNC2H1):c.10207-7T>C
NM_001377.3(DYNC2H1):c.10209T>G (p.Leu3403=)
NM_001377.3(DYNC2H1):c.10210T>C (p.Leu3404=)
NM_001377.3(DYNC2H1):c.10221C>T (p.Thr3407=)
NM_001377.3(DYNC2H1):c.10227G>A (p.Gln3409=)
NM_001377.3(DYNC2H1):c.10242T>C (p.Asp3414=)
NM_001377.3(DYNC2H1):c.10252C>G (p.Gln3418Glu) rs543525711
NM_001377.3(DYNC2H1):c.10267T>C (p.Leu3423=)
NM_001377.3(DYNC2H1):c.10272A>G (p.Gln3424=)
NM_001377.3(DYNC2H1):c.10275G>A (p.Gln3425=)
NM_001377.3(DYNC2H1):c.10305G>A (p.Lys3435=)
NM_001377.3(DYNC2H1):c.10308C>T (p.Leu3436=) rs991452927
NM_001377.3(DYNC2H1):c.10326+13C>T
NM_001377.3(DYNC2H1):c.10326+7G>A
NM_001377.3(DYNC2H1):c.10326+7G>C
NM_001377.3(DYNC2H1):c.10326+9C>T
NM_001377.3(DYNC2H1):c.10327-10T>C
NM_001377.3(DYNC2H1):c.10327-18T>G
NM_001377.3(DYNC2H1):c.10327-18del
NM_001377.3(DYNC2H1):c.10327-6C>T
NM_001377.3(DYNC2H1):c.10327-7C>T
NM_001377.3(DYNC2H1):c.10329A>G (p.Thr3443=)
NM_001377.3(DYNC2H1):c.10335C>G (p.Ala3445=)
NM_001377.3(DYNC2H1):c.10338A>T (p.Thr3446=)
NM_001377.3(DYNC2H1):c.10350T>C (p.Asn3450=)
NM_001377.3(DYNC2H1):c.10365G>A (p.Lys3455=)
NM_001377.3(DYNC2H1):c.10407A>C (p.Ala3469=)
NM_001377.3(DYNC2H1):c.10419G>A (p.Glu3473=)
NM_001377.3(DYNC2H1):c.1044A>G (p.Leu348=)
NM_001377.3(DYNC2H1):c.10455T>C (p.Leu3485=)
NM_001377.3(DYNC2H1):c.10461+14T>C
NM_001377.3(DYNC2H1):c.10462-10del
NM_001377.3(DYNC2H1):c.10462-13T>C
NM_001377.3(DYNC2H1):c.10462-4A>C
NM_001377.3(DYNC2H1):c.10462-4A>G
NM_001377.3(DYNC2H1):c.10473C>A (p.Ala3491=)
NM_001377.3(DYNC2H1):c.10482C>G (p.Pro3494=)
NM_001377.3(DYNC2H1):c.10497C>T (p.Ala3499=)
NM_001377.3(DYNC2H1):c.10524T>C (p.Asp3508=)
NM_001377.3(DYNC2H1):c.10554T>C (p.Phe3518=)
NM_001377.3(DYNC2H1):c.10591C>T (p.Leu3531=)
NM_001377.3(DYNC2H1):c.10593A>G (p.Leu3531=)
NM_001377.3(DYNC2H1):c.10605+13A>G
NM_001377.3(DYNC2H1):c.10605+16C>A
NM_001377.3(DYNC2H1):c.10605+17C>T
NM_001377.3(DYNC2H1):c.10605+18C>G
NM_001377.3(DYNC2H1):c.10605+18del
NM_001377.3(DYNC2H1):c.10605+8G>A
NM_001377.3(DYNC2H1):c.10605+8del
NM_001377.3(DYNC2H1):c.10606-11A>G
NM_001377.3(DYNC2H1):c.10606-16C>T
NM_001377.3(DYNC2H1):c.10606-17C>T
NM_001377.3(DYNC2H1):c.10606-4A>G
NM_001377.3(DYNC2H1):c.10606-6C>T rs1020258384
NM_001377.3(DYNC2H1):c.10632C>T (p.Ile3544=)
NM_001377.3(DYNC2H1):c.10638A>C (p.Ser3546=)
NM_001377.3(DYNC2H1):c.10647C>T (p.Ser3549=)
NM_001377.3(DYNC2H1):c.10668T>C (p.Tyr3556=)
NM_001377.3(DYNC2H1):c.10687C>T (p.Leu3563=)
NM_001377.3(DYNC2H1):c.10689A>G (p.Leu3563=)
NM_001377.3(DYNC2H1):c.10695+10A>T
NM_001377.3(DYNC2H1):c.10695+11T>C
NM_001377.3(DYNC2H1):c.10695+19T>C
NM_001377.3(DYNC2H1):c.10695+8G>A
NM_001377.3(DYNC2H1):c.10695+9C>A
NM_001377.3(DYNC2H1):c.10696-11A>G
NM_001377.3(DYNC2H1):c.10696-16_10696-15del
NM_001377.3(DYNC2H1):c.10707G>A (p.Leu3569=)
NM_001377.3(DYNC2H1):c.10716T>C (p.Ala3572=)
NM_001377.3(DYNC2H1):c.10740T>C (p.His3580=)
NM_001377.3(DYNC2H1):c.10761+10A>G
NM_001377.3(DYNC2H1):c.10761+15A>G
NM_001377.3(DYNC2H1):c.10761+20A>G
NM_001377.3(DYNC2H1):c.10761+7C>A
NM_001377.3(DYNC2H1):c.10761+7C>T
NM_001377.3(DYNC2H1):c.10762-17A>G
NM_001377.3(DYNC2H1):c.10762-20C>T
NM_001377.3(DYNC2H1):c.10762-7T>A
NM_001377.3(DYNC2H1):c.10762-9A>G
NM_001377.3(DYNC2H1):c.10812+17A>C
NM_001377.3(DYNC2H1):c.10812+18_10812+19del
NM_001377.3(DYNC2H1):c.10812+19A>G
NM_001377.3(DYNC2H1):c.10813-12C>T
NM_001377.3(DYNC2H1):c.10813-13G>C
NM_001377.3(DYNC2H1):c.10813-16A>C
NM_001377.3(DYNC2H1):c.10818T>C (p.Ser3606=)
NM_001377.3(DYNC2H1):c.10821A>G (p.Gln3607=)
NM_001377.3(DYNC2H1):c.10830A>T (p.Ile3610=)
NM_001377.3(DYNC2H1):c.10863A>G (p.Glu3621=)
NM_001377.3(DYNC2H1):c.10875C>T (p.Ala3625=)
NM_001377.3(DYNC2H1):c.10881A>G (p.Ala3627=)
NM_001377.3(DYNC2H1):c.10884A>C (p.Thr3628=) rs371844948
NM_001377.3(DYNC2H1):c.10884A>G (p.Thr3628=)
NM_001377.3(DYNC2H1):c.10887A>G (p.Leu3629=)
NM_001377.3(DYNC2H1):c.10890+10_10890+11insA
NM_001377.3(DYNC2H1):c.10890+11T>G
NM_001377.3(DYNC2H1):c.10890+17A>G
NM_001377.3(DYNC2H1):c.10890+17A>T
NM_001377.3(DYNC2H1):c.10890+18T>G
NM_001377.3(DYNC2H1):c.10891-17C>T
NM_001377.3(DYNC2H1):c.10891-18G>C
NM_001377.3(DYNC2H1):c.10891-6T>G
NM_001377.3(DYNC2H1):c.10891-7T>A
NM_001377.3(DYNC2H1):c.10891-7T>G
NM_001377.3(DYNC2H1):c.10891-9A>G rs2135352679
NM_001377.3(DYNC2H1):c.10893T>C (p.Ile3631=)
NM_001377.3(DYNC2H1):c.108T>C (p.Cys36=)
NM_001377.3(DYNC2H1):c.10902C>T (p.Pro3634=)
NM_001377.3(DYNC2H1):c.10908T>G (p.Leu3636=)
NM_001377.3(DYNC2H1):c.10920C>A (p.Leu3640=) rs530445230
NM_001377.3(DYNC2H1):c.10920C>T (p.Leu3640=)
NM_001377.3(DYNC2H1):c.10941G>A (p.Leu3647=)
NM_001377.3(DYNC2H1):c.10953T>C (p.Tyr3651=)
NM_001377.3(DYNC2H1):c.10974G>A (p.Glu3658=)
NM_001377.3(DYNC2H1):c.11004A>G (p.Lys3668=)
NM_001377.3(DYNC2H1):c.11022+15_11022+63dup
NM_001377.3(DYNC2H1):c.11022+17T>A
NM_001377.3(DYNC2H1):c.11022+9T>C
NM_001377.3(DYNC2H1):c.11023-17C>T
NM_001377.3(DYNC2H1):c.11028T>C (p.Leu3676=)
NM_001377.3(DYNC2H1):c.11039_11040delinsTA (p.Ala3680Val)
NM_001377.3(DYNC2H1):c.11061A>G (p.Gln3687=)
NM_001377.3(DYNC2H1):c.11082A>G (p.Ala3694=)
NM_001377.3(DYNC2H1):c.11092C>T (p.Leu3698=)
NM_001377.3(DYNC2H1):c.11095+13C>G
NM_001377.3(DYNC2H1):c.11095+13C>T
NM_001377.3(DYNC2H1):c.11095+7G>C
NM_001377.3(DYNC2H1):c.11096-10T>C
NM_001377.3(DYNC2H1):c.11096-16A>C
NM_001377.3(DYNC2H1):c.11096-16A>T
NM_001377.3(DYNC2H1):c.11096-8T>C
NM_001377.3(DYNC2H1):c.11100G>A (p.Leu3700=)
NM_001377.3(DYNC2H1):c.11106G>A (p.Glu3702=)
NM_001377.3(DYNC2H1):c.11122C>T (p.Leu3708=)
NM_001377.3(DYNC2H1):c.11145A>G (p.Lys3715=)
NM_001377.3(DYNC2H1):c.11151A>G (p.Thr3717=)
NM_001377.3(DYNC2H1):c.11160T>C (p.Ile3720=)
NM_001377.3(DYNC2H1):c.11169C>T (p.Ile3723=)
NM_001377.3(DYNC2H1):c.11184T>A (p.Ser3728=) rs863224375
NM_001377.3(DYNC2H1):c.11239G>A (p.Gly3747Arg)
NM_001377.3(DYNC2H1):c.11244G>A (p.Glu3748=)
NM_001377.3(DYNC2H1):c.11256+11A>G
NM_001377.3(DYNC2H1):c.11256+14G>A
NM_001377.3(DYNC2H1):c.11256+19G>A
NM_001377.3(DYNC2H1):c.11256+8C>T rs1405925153
NM_001377.3(DYNC2H1):c.11257-11T>C
NM_001377.3(DYNC2H1):c.11257-17T>C
NM_001377.3(DYNC2H1):c.11257-18G>A
NM_001377.3(DYNC2H1):c.11257-20T>C
NM_001377.3(DYNC2H1):c.11257-4G>A
NM_001377.3(DYNC2H1):c.1125A>G (p.Pro375=)
NM_001377.3(DYNC2H1):c.11262C>A (p.Ala3754=)
NM_001377.3(DYNC2H1):c.11292T>A (p.Ile3764=)
NM_001377.3(DYNC2H1):c.11295A>G (p.Gln3765=)
NM_001377.3(DYNC2H1):c.11301A>G (p.Leu3767=)
NM_001377.3(DYNC2H1):c.11301A>T (p.Leu3767=) rs778574130
NM_001377.3(DYNC2H1):c.11319T>C (p.Asn3773=)
NM_001377.3(DYNC2H1):c.11325C>T (p.Asp3775=)
NM_001377.3(DYNC2H1):c.11334T>C (p.Cys3778=)
NM_001377.3(DYNC2H1):c.11335T>C (p.Leu3779=)
NM_001377.3(DYNC2H1):c.1134+20A>G
NM_001377.3(DYNC2H1):c.1134+9T>C
NM_001377.3(DYNC2H1):c.11340G>A (p.Lys3780=)
NM_001377.3(DYNC2H1):c.11343C>T (p.Asn3781=)
NM_001377.3(DYNC2H1):c.1135-12T>A
NM_001377.3(DYNC2H1):c.1135-17G>A rs2134714400
NM_001377.3(DYNC2H1):c.1135-18T>C
NM_001377.3(DYNC2H1):c.1135-5T>C
NM_001377.3(DYNC2H1):c.1135-6A>G
NM_001377.3(DYNC2H1):c.1135-7T>A
NM_001377.3(DYNC2H1):c.1135-8G>A
NM_001377.3(DYNC2H1):c.1135-9T>C
NM_001377.3(DYNC2H1):c.11358A>G (p.Val3786=) rs573193401
NM_001377.3(DYNC2H1):c.11358A>T (p.Val3786=)
NM_001377.3(DYNC2H1):c.11367G>A (p.Leu3789=)
NM_001377.3(DYNC2H1):c.11370A>G (p.Pro3790=)
NM_001377.3(DYNC2H1):c.11370A>T (p.Pro3790=)
NM_001377.3(DYNC2H1):c.1137C>T (p.Pro379=)
NM_001377.3(DYNC2H1):c.11382+17_11382+18insCGG rs10690307
NM_001377.3(DYNC2H1):c.11382+7_11382+16del rs769400590
NM_001377.3(DYNC2H1):c.11382+8C>G
NM_001377.3(DYNC2H1):c.11382+9A>C
NM_001377.3(DYNC2H1):c.11383-17T>C
NM_001377.3(DYNC2H1):c.11383-18A>G
NM_001377.3(DYNC2H1):c.11383-7A>G
NM_001377.3(DYNC2H1):c.11383-9G>A
NM_001377.3(DYNC2H1):c.11394T>A (p.Thr3798=)
NM_001377.3(DYNC2H1):c.11394T>C (p.Thr3798=)
NM_001377.3(DYNC2H1):c.11400A>G (p.Gln3800=)
NM_001377.3(DYNC2H1):c.1140G>A (p.Leu380=)
NM_001377.3(DYNC2H1):c.11427C>T (p.Leu3809=)
NM_001377.3(DYNC2H1):c.11445C>A (p.Pro3815=)
NM_001377.3(DYNC2H1):c.11448C>T (p.Asn3816=)
NM_001377.3(DYNC2H1):c.11457T>C (p.Pro3819=)
NM_001377.3(DYNC2H1):c.11490T>C (p.Tyr3830=)
NM_001377.3(DYNC2H1):c.11493+11T>A
NM_001377.3(DYNC2H1):c.11493+14A>C
NM_001377.3(DYNC2H1):c.11493+17C>T
NM_001377.3(DYNC2H1):c.11493+19T>C
NM_001377.3(DYNC2H1):c.11493+20G>A
NM_001377.3(DYNC2H1):c.11493+7_11493+9del
NM_001377.3(DYNC2H1):c.11493+8G>T
NM_001377.3(DYNC2H1):c.11494-16T>C
NM_001377.3(DYNC2H1):c.11494-17G>A
NM_001377.3(DYNC2H1):c.11494-18T>C
NM_001377.3(DYNC2H1):c.11494-20T>C
NM_001377.3(DYNC2H1):c.11494-4C>G
NM_001377.3(DYNC2H1):c.11517T>C (p.Asn3839=)
NM_001377.3(DYNC2H1):c.11526T>C (p.Arg3842=)
NM_001377.3(DYNC2H1):c.11532T>C (p.Tyr3844=)
NM_001377.3(DYNC2H1):c.11544T>A (p.Thr3848=)
NM_001377.3(DYNC2H1):c.11562A>G (p.Lys3854=)
NM_001377.3(DYNC2H1):c.11589T>C (p.Ala3863=)
NM_001377.3(DYNC2H1):c.1158T>G (p.Ser386=)
NM_001377.3(DYNC2H1):c.11598T>C (p.Ser3866=)
NM_001377.3(DYNC2H1):c.11649+11A>G
NM_001377.3(DYNC2H1):c.11649+20G>T
NM_001377.3(DYNC2H1):c.11649+7A>G
NM_001377.3(DYNC2H1):c.11649+8A>G
NM_001377.3(DYNC2H1):c.1164T>C (p.Tyr388=)
NM_001377.3(DYNC2H1):c.11650-10T>G
NM_001377.3(DYNC2H1):c.11650-12G>A
NM_001377.3(DYNC2H1):c.11650-14T>A
NM_001377.3(DYNC2H1):c.11650-14T>C
NM_001377.3(DYNC2H1):c.11650-17_11650-15del
NM_001377.3(DYNC2H1):c.11650-6T>C
NM_001377.3(DYNC2H1):c.11661G>A (p.Lys3887=)
NM_001377.3(DYNC2H1):c.11725+13A>G
NM_001377.3(DYNC2H1):c.11725+16_11725+17del rs751817148
NM_001377.3(DYNC2H1):c.11725+8C>A
NM_001377.3(DYNC2H1):c.11726-17T>G
NM_001377.3(DYNC2H1):c.11726-19T>C
NM_001377.3(DYNC2H1):c.11726-20G>T
NM_001377.3(DYNC2H1):c.11730C>T (p.Ala3910=)
NM_001377.3(DYNC2H1):c.1173T>C (p.Ile391=)
NM_001377.3(DYNC2H1):c.11751T>C (p.Phe3917=)
NM_001377.3(DYNC2H1):c.11772T>C (p.Asn3924=)
NM_001377.3(DYNC2H1):c.11775T>C (p.Ala3925=)
NM_001377.3(DYNC2H1):c.11784A>T (p.Gly3928=)
NM_001377.3(DYNC2H1):c.11790T>C (p.Arg3930=)
NM_001377.3(DYNC2H1):c.11796C>T (p.Asp3932=)
NM_001377.3(DYNC2H1):c.1179A>G (p.Ala393=)
NM_001377.3(DYNC2H1):c.11808C>T (p.Asp3936=)
NM_001377.3(DYNC2H1):c.11826A>G (p.Ser3942=)
NM_001377.3(DYNC2H1):c.11835G>A (p.Lys3945=)
NM_001377.3(DYNC2H1):c.11853A>C (p.Ser3951=)
NM_001377.3(DYNC2H1):c.1185G>A (p.Ala395=)
NM_001377.3(DYNC2H1):c.11865A>G (p.Val3955=)
NM_001377.3(DYNC2H1):c.11907A>C (p.Val3969=) rs761013012
NM_001377.3(DYNC2H1):c.11907A>T (p.Val3969=)
NM_001377.3(DYNC2H1):c.11913A>G (p.Leu3971=)
NM_001377.3(DYNC2H1):c.11934+18T>A
NM_001377.3(DYNC2H1):c.11935-12C>G
NM_001377.3(DYNC2H1):c.11935-12_11935-10del rs572104795
NM_001377.3(DYNC2H1):c.11935-17dup
NM_001377.3(DYNC2H1):c.11943T>C (p.Arg3981=)
NM_001377.3(DYNC2H1):c.11955G>A (p.Glu3985=) rs2135444475
NM_001377.3(DYNC2H1):c.11964A>G (p.Pro3988=) rs1591578553
NM_001377.3(DYNC2H1):c.11982T>C (p.Ser3994=)
NM_001377.3(DYNC2H1):c.12012C>T (p.Arg4004=)
NM_001377.3(DYNC2H1):c.12018T>G (p.Ser4006=)
NM_001377.3(DYNC2H1):c.12030C>A (p.Ile4010=)
NM_001377.3(DYNC2H1):c.12030C>T (p.Ile4010=)
NM_001377.3(DYNC2H1):c.12039+13A>G
NM_001377.3(DYNC2H1):c.12039+14A>C
NM_001377.3(DYNC2H1):c.12039+16G>T
NM_001377.3(DYNC2H1):c.12039+19C>A
NM_001377.3(DYNC2H1):c.12039+19C>G
NM_001377.3(DYNC2H1):c.12039+8A>G
NM_001377.3(DYNC2H1):c.12039+8A>T
NM_001377.3(DYNC2H1):c.12040-14_12040-12del
NM_001377.3(DYNC2H1):c.12040-14del
NM_001377.3(DYNC2H1):c.12040-15T>C
NM_001377.3(DYNC2H1):c.12040-16T>C
NM_001377.3(DYNC2H1):c.12040-20C>T
NM_001377.3(DYNC2H1):c.12040-4T>G
NM_001377.3(DYNC2H1):c.12040-7T>C
NM_001377.3(DYNC2H1):c.12051G>A (p.Gln4017=)
NM_001377.3(DYNC2H1):c.12063G>A (p.Leu4021=) rs2135525774
NM_001377.3(DYNC2H1):c.12066C>T (p.Gly4022=)
NM_001377.3(DYNC2H1):c.12072C>G (p.Ser4024=)
NM_001377.3(DYNC2H1):c.1207T>C (p.Leu403=)
NM_001377.3(DYNC2H1):c.12129C>A (p.Val4043=)
NM_001377.3(DYNC2H1):c.12153C>T (p.Asn4051=)
NM_001377.3(DYNC2H1):c.12156+14T>A
NM_001377.3(DYNC2H1):c.12156+16T>C
NM_001377.3(DYNC2H1):c.12156+7A>G
NM_001377.3(DYNC2H1):c.12157-16G>A
NM_001377.3(DYNC2H1):c.12157-17T>C
NM_001377.3(DYNC2H1):c.12157-18A>G
NM_001377.3(DYNC2H1):c.12157-20T>C
NM_001377.3(DYNC2H1):c.12157-7_12157-6del
NM_001377.3(DYNC2H1):c.12207A>T (p.Gly4069=)
NM_001377.3(DYNC2H1):c.12213A>G (p.Pro4071=)
NM_001377.3(DYNC2H1):c.12218T>C (p.Leu4073Pro)
NM_001377.3(DYNC2H1):c.1224A>G (p.Ser408=)
NM_001377.3(DYNC2H1):c.12282T>G (p.Leu4094=)
NM_001377.3(DYNC2H1):c.12300C>G (p.Val4100=)
NM_001377.3(DYNC2H1):c.12321G>C (p.Leu4107=)
NM_001377.3(DYNC2H1):c.12327A>G (p.Ser4109=)
NM_001377.3(DYNC2H1):c.12330A>G (p.Glu4110=) rs1361992864
NM_001377.3(DYNC2H1):c.12339A>G (p.Lys4113=)
NM_001377.3(DYNC2H1):c.12340T>C (p.Leu4114=)
NM_001377.3(DYNC2H1):c.12348T>C (p.Ser4116=)
NM_001377.3(DYNC2H1):c.12351T>A (p.Ala4117=)
NM_001377.3(DYNC2H1):c.12360C>T (p.Asn4120=)
NM_001377.3(DYNC2H1):c.12366+15dup rs772094595
NM_001377.3(DYNC2H1):c.12366+16C>T
NM_001377.3(DYNC2H1):c.12366+17T>A
NM_001377.3(DYNC2H1):c.12366+19T>C
NM_001377.3(DYNC2H1):c.12366+20A>G
NM_001377.3(DYNC2H1):c.12366+7_12366+8delinsAG rs1555119964
NM_001377.3(DYNC2H1):c.12366+9G>A
NM_001377.3(DYNC2H1):c.12367-15C>G
NM_001377.3(DYNC2H1):c.12367-6T>C
NM_001377.3(DYNC2H1):c.12369T>C (p.Cys4123=)
NM_001377.3(DYNC2H1):c.12387C>T (p.Ser4129=)
NM_001377.3(DYNC2H1):c.12417A>G (p.Gln4139=)
NM_001377.3(DYNC2H1):c.12423G>A (p.Leu4141=)
NM_001377.3(DYNC2H1):c.12429T>C (p.Gly4143=)
NM_001377.3(DYNC2H1):c.1242A>C (p.Pro414=)
NM_001377.3(DYNC2H1):c.1242A>G (p.Pro414=)
NM_001377.3(DYNC2H1):c.12444C>A (p.Ala4148=)
NM_001377.3(DYNC2H1):c.12456+10A>C
NM_001377.3(DYNC2H1):c.12457-11C>T
NM_001377.3(DYNC2H1):c.12457-12C>T
NM_001377.3(DYNC2H1):c.12457-14T>C
NM_001377.3(DYNC2H1):c.12457-14T>G
NM_001377.3(DYNC2H1):c.12457-16A>G
NM_001377.3(DYNC2H1):c.12457-18A>C
NM_001377.3(DYNC2H1):c.12457-18A>T
NM_001377.3(DYNC2H1):c.12457-4C>G
NM_001377.3(DYNC2H1):c.12457-5del
NM_001377.3(DYNC2H1):c.12457-6C>G
NM_001377.3(DYNC2H1):c.12457-7C>T
NM_001377.3(DYNC2H1):c.1245G>A (p.Gln415=)
NM_001377.3(DYNC2H1):c.12465A>G (p.Val4155=)
NM_001377.3(DYNC2H1):c.12474T>C (p.Ala4158=)
NM_001377.3(DYNC2H1):c.1248+10T>C
NM_001377.3(DYNC2H1):c.1248+10T>G
NM_001377.3(DYNC2H1):c.1248+16A>G
NM_001377.3(DYNC2H1):c.1248+7C>G
NM_001377.3(DYNC2H1):c.1249-17A>G
NM_001377.3(DYNC2H1):c.1249-4T>C
NM_001377.3(DYNC2H1):c.1249-5A>G
NM_001377.3(DYNC2H1):c.12510A>G (p.Leu4170=)
NM_001377.3(DYNC2H1):c.12525T>C (p.His4175=)
NM_001377.3(DYNC2H1):c.12528A>C (p.Pro4176=)
NM_001377.3(DYNC2H1):c.12528A>G (p.Pro4176=)
NM_001377.3(DYNC2H1):c.12534A>C (p.Thr4178=)
NM_001377.3(DYNC2H1):c.12543T>C (p.Asn4181=)
NM_001377.3(DYNC2H1):c.12566+10A>C
NM_001377.3(DYNC2H1):c.12566+14A>C
NM_001377.3(DYNC2H1):c.12566+15A>T
NM_001377.3(DYNC2H1):c.12566+16T>C rs2135805720
NM_001377.3(DYNC2H1):c.12567-10_12567-9dup
NM_001377.3(DYNC2H1):c.12567-13T>C
NM_001377.3(DYNC2H1):c.12567-14C>G
NM_001377.3(DYNC2H1):c.12567-15G>A
NM_001377.3(DYNC2H1):c.12567-18G>A
NM_001377.3(DYNC2H1):c.12567-19T>G
NM_001377.3(DYNC2H1):c.12567-8_12567-3del
NM_001377.3(DYNC2H1):c.12570A>C (p.Ala4190=) rs138434836
NM_001377.3(DYNC2H1):c.12582T>C (p.Ser4194=)
NM_001377.3(DYNC2H1):c.12588T>C (p.Asp4196=)
NM_001377.3(DYNC2H1):c.12591C>T (p.Ser4197=)
NM_001377.3(DYNC2H1):c.12606C>G (p.Ala4202=)
NM_001377.3(DYNC2H1):c.12606C>T (p.Ala4202=)
NM_001377.3(DYNC2H1):c.12615A>G (p.Lys4205=)
NM_001377.3(DYNC2H1):c.12633A>G (p.Ala4211=)
NM_001377.3(DYNC2H1):c.12645T>C (p.Ile4215=)
NM_001377.3(DYNC2H1):c.12648+16T>C
NM_001377.3(DYNC2H1):c.12648+17A>C
NM_001377.3(DYNC2H1):c.12648+7G>C
NM_001377.3(DYNC2H1):c.12649-16T>C
NM_001377.3(DYNC2H1):c.12649-17A>G
NM_001377.3(DYNC2H1):c.12649-19A>G
NM_001377.3(DYNC2H1):c.12649-19A>T
NM_001377.3(DYNC2H1):c.12649-4G>C
NM_001377.3(DYNC2H1):c.12649-7A>G
NM_001377.3(DYNC2H1):c.12664C>T (p.Leu4222=)
NM_001377.3(DYNC2H1):c.1266G>A (p.Leu422=)
NM_001377.3(DYNC2H1):c.12684T>C (p.Asp4228=)
NM_001377.3(DYNC2H1):c.12708G>A (p.Gln4236=)
NM_001377.3(DYNC2H1):c.12723C>T (p.Ser4241=)
NM_001377.3(DYNC2H1):c.1272T>C (p.Tyr424=)
NM_001377.3(DYNC2H1):c.12741T>C (p.Pro4247=)
NM_001377.3(DYNC2H1):c.12765+14A>G
NM_001377.3(DYNC2H1):c.12765+18A>G
NM_001377.3(DYNC2H1):c.12765+18del
NM_001377.3(DYNC2H1):c.12765+8A>G
NM_001377.3(DYNC2H1):c.12766-10T>C
NM_001377.3(DYNC2H1):c.12766-12T>C
NM_001377.3(DYNC2H1):c.12766-13A>G
NM_001377.3(DYNC2H1):c.12766-16G>C
NM_001377.3(DYNC2H1):c.12766-20A>T
NM_001377.3(DYNC2H1):c.12771A>G (p.Ala4257=)
NM_001377.3(DYNC2H1):c.12789G>A (p.Pro4263=)
NM_001377.3(DYNC2H1):c.1278G>A (p.Glu426=)
NM_001377.3(DYNC2H1):c.12795G>A (p.Glu4265=)
NM_001377.3(DYNC2H1):c.12798C>T (p.Cys4266=)
NM_001377.3(DYNC2H1):c.12810T>C (p.Pro4270=)
NM_001377.3(DYNC2H1):c.12831G>A (p.Arg4277=)
NM_001377.3(DYNC2H1):c.1284A>G (p.Val428=)
NM_001377.3(DYNC2H1):c.12858T>C (p.Val4286=)
NM_001377.3(DYNC2H1):c.12861A>G (p.Pro4287=)
NM_001377.3(DYNC2H1):c.12879C>T (p.Asp4293=)
NM_001377.3(DYNC2H1):c.12882G>A (p.Gln4294=)
NM_001377.3(DYNC2H1):c.12888T>C (p.Ile4296=)
NM_001377.3(DYNC2H1):c.12900A>G (p.Ala4300=)
NM_001377.3(DYNC2H1):c.12912A>C (p.Leu4304=)
NM_001377.3(DYNC2H1):c.12912A>G (p.Leu4304=)
NM_001377.3(DYNC2H1):c.12916A>G (p.Asn4306Asp) rs200264343
NM_001377.3(DYNC2H1):c.12918T>C (p.Asn4306=)
NM_001377.3(DYNC2H1):c.1296T>G (p.Thr432=)
NM_001377.3(DYNC2H1):c.132T>C (p.Asp44=)
NM_001377.3(DYNC2H1):c.1338A>C (p.Ala446=)
NM_001377.3(DYNC2H1):c.1338A>G (p.Ala446=)
NM_001377.3(DYNC2H1):c.1353A>G (p.Ser451=)
NM_001377.3(DYNC2H1):c.1353A>T (p.Ser451=)
NM_001377.3(DYNC2H1):c.1360+17T>C
NM_001377.3(DYNC2H1):c.1360+9T>G
NM_001377.3(DYNC2H1):c.1361-11A>C
NM_001377.3(DYNC2H1):c.1361-14T>C
NM_001377.3(DYNC2H1):c.1361-15A>G
NM_001377.3(DYNC2H1):c.1361-16G>A
NM_001377.3(DYNC2H1):c.1361-20A>G
NM_001377.3(DYNC2H1):c.1361-20A>T
NM_001377.3(DYNC2H1):c.1361-4A>G
NM_001377.3(DYNC2H1):c.1362T>C (p.Asp454=)
NM_001377.3(DYNC2H1):c.1371A>G (p.Leu457=)
NM_001377.3(DYNC2H1):c.1389C>T (p.Cys463=)
NM_001377.3(DYNC2H1):c.138C>T (p.Gly46=)
NM_001377.3(DYNC2H1):c.1398T>A (p.Ile466=)
NM_001377.3(DYNC2H1):c.1419A>T (p.Pro473=)
NM_001377.3(DYNC2H1):c.1425T>C (p.Ser475=)
NM_001377.3(DYNC2H1):c.1434T>C (p.Asn478=)
NM_001377.3(DYNC2H1):c.1440A>G (p.Ser480=)
NM_001377.3(DYNC2H1):c.1455T>C (p.Ser485=)
NM_001377.3(DYNC2H1):c.1459G>A (p.Val487Ile)
NM_001377.3(DYNC2H1):c.1461T>C (p.Val487=)
NM_001377.3(DYNC2H1):c.1485+20A>T
NM_001377.3(DYNC2H1):c.1485+7A>G
NM_001377.3(DYNC2H1):c.1486-16A>G
NM_001377.3(DYNC2H1):c.1486-17del rs2134723666
NM_001377.3(DYNC2H1):c.1486-18G>A
NM_001377.3(DYNC2H1):c.1486-20C>G rs191631635
NM_001377.3(DYNC2H1):c.1486-20C>T
NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)
NM_001377.3(DYNC2H1):c.1533A>G (p.Pro511=)
NM_001377.3(DYNC2H1):c.1536A>G (p.Gly512=) rs1591273398
NM_001377.3(DYNC2H1):c.1545T>C (p.Cys515=)
NM_001377.3(DYNC2H1):c.1569C>T (p.Leu523=)
NM_001377.3(DYNC2H1):c.15T>C (p.Thr5=)
NM_001377.3(DYNC2H1):c.1611T>C (p.Asp537=)
NM_001377.3(DYNC2H1):c.1647C>T (p.Ser549=)
NM_001377.3(DYNC2H1):c.1649G>C (p.Arg550Thr)
NM_001377.3(DYNC2H1):c.1661+11A>G
NM_001377.3(DYNC2H1):c.1662-18A>G
NM_001377.3(DYNC2H1):c.1662-4A>G
NM_001377.3(DYNC2H1):c.1679G>A (p.Arg560Gln) rs561232842
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu) rs561232842
NM_001377.3(DYNC2H1):c.1704T>C (p.Asp568=) rs1456043930
NM_001377.3(DYNC2H1):c.1707A>G (p.Gly569=)
NM_001377.3(DYNC2H1):c.1716A>G (p.Lys572=)
NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)
NM_001377.3(DYNC2H1):c.1734T>C (p.Arg578=)
NM_001377.3(DYNC2H1):c.1747C>T (p.Leu583=)
NM_001377.3(DYNC2H1):c.1767C>G (p.Leu589=)
NM_001377.3(DYNC2H1):c.1770T>C (p.Ser590=)
NM_001377.3(DYNC2H1):c.1815C>T (p.Asn605=)
NM_001377.3(DYNC2H1):c.1827A>G (p.Lys609=)
NM_001377.3(DYNC2H1):c.183C>G (p.Ser61=) rs1591248391
NM_001377.3(DYNC2H1):c.1857+13A>C
NM_001377.3(DYNC2H1):c.1857+13A>G
NM_001377.3(DYNC2H1):c.1857+14T>C
NM_001377.3(DYNC2H1):c.1857+14T>G
NM_001377.3(DYNC2H1):c.1857+20G>T
NM_001377.3(DYNC2H1):c.1858-14C>G
NM_001377.3(DYNC2H1):c.1858-4G>A
NM_001377.3(DYNC2H1):c.1918T>C (p.Leu640=)
NM_001377.3(DYNC2H1):c.1920A>G (p.Leu640=)
NM_001377.3(DYNC2H1):c.1935A>G (p.Ala645=)
NM_001377.3(DYNC2H1):c.195+12T>A
NM_001377.3(DYNC2H1):c.195+14C>T
NM_001377.3(DYNC2H1):c.195+16C>T
NM_001377.3(DYNC2H1):c.195+19C>T
NM_001377.3(DYNC2H1):c.195+7T>G
NM_001377.3(DYNC2H1):c.1953+16A>G
NM_001377.3(DYNC2H1):c.1953+7G>T
NM_001377.3(DYNC2H1):c.1953+8G>A
NM_001377.3(DYNC2H1):c.1953+9G>A
NM_001377.3(DYNC2H1):c.1953+9G>T
NM_001377.3(DYNC2H1):c.1954-17T>C
NM_001377.3(DYNC2H1):c.1954-19G>T
NM_001377.3(DYNC2H1):c.1954-20G>A
NM_001377.3(DYNC2H1):c.196-17A>G
NM_001377.3(DYNC2H1):c.196-5T>C
NM_001377.3(DYNC2H1):c.196-7A>C
NM_001377.3(DYNC2H1):c.196-9T>C
NM_001377.3(DYNC2H1):c.2010A>G (p.Glu670=)
NM_001377.3(DYNC2H1):c.2022T>C (p.Tyr674=)
NM_001377.3(DYNC2H1):c.2040T>C (p.Asn680=)
NM_001377.3(DYNC2H1):c.2043T>C (p.Ala681=)
NM_001377.3(DYNC2H1):c.2064A>G (p.Glu688=)
NM_001377.3(DYNC2H1):c.2074C>T (p.Leu692=)
NM_001377.3(DYNC2H1):c.2088C>T (p.His696=)
NM_001377.3(DYNC2H1):c.2094A>C (p.Thr698=)
NM_001377.3(DYNC2H1):c.2106+14A>T
NM_001377.3(DYNC2H1):c.2107-14C>T
NM_001377.3(DYNC2H1):c.2107-16C>T
NM_001377.3(DYNC2H1):c.2107-17G>A
NM_001377.3(DYNC2H1):c.2107-19A>G
NM_001377.3(DYNC2H1):c.2107-4A>T
NM_001377.3(DYNC2H1):c.2136T>C (p.Leu712=)
NM_001377.3(DYNC2H1):c.2163A>G (p.Gly721=)
NM_001377.3(DYNC2H1):c.2173T>C (p.Leu725=)
NM_001377.3(DYNC2H1):c.2178A>G (p.Arg726=)
NM_001377.3(DYNC2H1):c.2187A>G (p.Leu729=)
NM_001377.3(DYNC2H1):c.2196A>G (p.Val732=)
NM_001377.3(DYNC2H1):c.219T>C (p.Asp73=)
NM_001377.3(DYNC2H1):c.2205+10G>A
NM_001377.3(DYNC2H1):c.2205+11T>C
NM_001377.3(DYNC2H1):c.2205+7T>C
NM_001377.3(DYNC2H1):c.2206-16G>C
NM_001377.3(DYNC2H1):c.2206-18G>A
NM_001377.3(DYNC2H1):c.2206-19T>C
NM_001377.3(DYNC2H1):c.2217A>G (p.Ala739=)
NM_001377.3(DYNC2H1):c.2232A>G (p.Ala744=)
NM_001377.3(DYNC2H1):c.2232A>T (p.Ala744=)
NM_001377.3(DYNC2H1):c.2259G>A (p.Leu753=)
NM_001377.3(DYNC2H1):c.2269C>T (p.Leu757=)
NM_001377.3(DYNC2H1):c.2274G>A (p.Glu758=) rs1373793996
NM_001377.3(DYNC2H1):c.2345+12T>A rs2134780034
NM_001377.3(DYNC2H1):c.2345+17A>G
NM_001377.3(DYNC2H1):c.2345+18C>T
NM_001377.3(DYNC2H1):c.2345+9T>A
NM_001377.3(DYNC2H1):c.2346-19G>A
NM_001377.3(DYNC2H1):c.2355A>G (p.Arg785=)
NM_001377.3(DYNC2H1):c.2361A>G (p.Gln787=)
NM_001377.3(DYNC2H1):c.2367G>A (p.Arg789=)
NM_001377.3(DYNC2H1):c.2370C>T (p.Pro790=)
NM_001377.3(DYNC2H1):c.2385C>A (p.Ile795=)
NM_001377.3(DYNC2H1):c.2403A>G (p.Arg801=)
NM_001377.3(DYNC2H1):c.2436G>A (p.Gln812=)
NM_001377.3(DYNC2H1):c.2442G>A (p.Lys814=)
NM_001377.3(DYNC2H1):c.2466A>G (p.Glu822=)
NM_001377.3(DYNC2H1):c.2502T>C (p.Ser834=)
NM_001377.3(DYNC2H1):c.2509T>C (p.Leu837=)
NM_001377.3(DYNC2H1):c.2520C>T (p.Phe840=)
NM_001377.3(DYNC2H1):c.2527G>A (p.Ala843Thr) rs548461924
NM_001377.3(DYNC2H1):c.2548T>C (p.Leu850=)
NM_001377.3(DYNC2H1):c.255A>G (p.Val85=)
NM_001377.3(DYNC2H1):c.2568A>G (p.Gln856=)
NM_001377.3(DYNC2H1):c.2574+17G>A
NM_001377.3(DYNC2H1):c.2574+7A>G
NM_001377.3(DYNC2H1):c.2575-11T>C
NM_001377.3(DYNC2H1):c.2575-14C>A
NM_001377.3(DYNC2H1):c.2575-18T>G
NM_001377.3(DYNC2H1):c.2575-6A>T rs1357755464
NM_001377.3(DYNC2H1):c.2577A>G (p.Glu859=)
NM_001377.3(DYNC2H1):c.2583T>C (p.Ile861=)
NM_001377.3(DYNC2H1):c.2589T>C (p.Ile863=)
NM_001377.3(DYNC2H1):c.2592G>A (p.Gly864=)
NM_001377.3(DYNC2H1):c.2616G>A (p.Val872=)
NM_001377.3(DYNC2H1):c.2622G>A (p.Lys874=)
NM_001377.3(DYNC2H1):c.2652A>G (p.Lys884=)
NM_001377.3(DYNC2H1):c.2664A>C (p.Ala888=)
NM_001377.3(DYNC2H1):c.2664A>G (p.Ala888=)
NM_001377.3(DYNC2H1):c.2693G>A (p.Arg898Gln)
NM_001377.3(DYNC2H1):c.2702+12T>C
NM_001377.3(DYNC2H1):c.2702+15T>C
NM_001377.3(DYNC2H1):c.2702+16_2702+23del
NM_001377.3(DYNC2H1):c.2702+17T>A
NM_001377.3(DYNC2H1):c.2702+8A>C
NM_001377.3(DYNC2H1):c.2703-15A>G
NM_001377.3(DYNC2H1):c.2703-18T>C
NM_001377.3(DYNC2H1):c.2703-20T>C
NM_001377.3(DYNC2H1):c.2703-9A>G
NM_001377.3(DYNC2H1):c.270T>C (p.Asn90=)
NM_001377.3(DYNC2H1):c.2712G>A (p.Lys904=) rs2134851598
NM_001377.3(DYNC2H1):c.2718T>C (p.Asp906=)
NM_001377.3(DYNC2H1):c.2721T>C (p.Cys907=)
NM_001377.3(DYNC2H1):c.2730T>C (p.Ile910=)
NM_001377.3(DYNC2H1):c.2739C>T (p.Asn913=)
NM_001377.3(DYNC2H1):c.2745G>C (p.Val915=)
NM_001377.3(DYNC2H1):c.2748G>A (p.Lys916=)
NM_001377.3(DYNC2H1):c.2778A>G (p.Leu926=)
NM_001377.3(DYNC2H1):c.2811C>A (p.Ser937=)
NM_001377.3(DYNC2H1):c.2818+10C>A
NM_001377.3(DYNC2H1):c.2818+10C>T
NM_001377.3(DYNC2H1):c.2818+11A>G
NM_001377.3(DYNC2H1):c.2818+17A>G
NM_001377.3(DYNC2H1):c.2818+7A>C
NM_001377.3(DYNC2H1):c.2818+8C>G
NM_001377.3(DYNC2H1):c.2819-10T>C
NM_001377.3(DYNC2H1):c.2819-14A>T
NM_001377.3(DYNC2H1):c.2819-20A>G
NM_001377.3(DYNC2H1):c.2819-8C>T
NM_001377.3(DYNC2H1):c.2820T>A (p.Ala940=)
NM_001377.3(DYNC2H1):c.2820T>C (p.Ala940=)
NM_001377.3(DYNC2H1):c.2841A>G (p.Thr947=)
NM_001377.3(DYNC2H1):c.2886T>C (p.Ser962=)
NM_001377.3(DYNC2H1):c.2913A>G (p.Leu971=)
NM_001377.3(DYNC2H1):c.2919T>C (p.Tyr973=)
NM_001377.3(DYNC2H1):c.2940G>A (p.Lys980=)
NM_001377.3(DYNC2H1):c.2946+10A>G
NM_001377.3(DYNC2H1):c.2946+15G>C rs2134855865
NM_001377.3(DYNC2H1):c.2946+7A>C
NM_001377.3(DYNC2H1):c.2947-11T>C
NM_001377.3(DYNC2H1):c.2947-12_2947-11insC
NM_001377.3(DYNC2H1):c.2947-15T>C
NM_001377.3(DYNC2H1):c.2947-15_2947-14insGT
NM_001377.3(DYNC2H1):c.2947-16_2947-15insCT
NM_001377.3(DYNC2H1):c.2947-18_2947-17insG
NM_001377.3(DYNC2H1):c.2947-18_2947-17insGT rs750641672
NM_001377.3(DYNC2H1):c.2947-19_2947-18insGT
NM_001377.3(DYNC2H1):c.2947-6C>T
NM_001377.3(DYNC2H1):c.2947-9A>T
NM_001377.3(DYNC2H1):c.2955C>T (p.Pro985=)
NM_001377.3(DYNC2H1):c.2985A>G (p.Arg995=)
NM_001377.3(DYNC2H1):c.3024T>A (p.Ile1008=)
NM_001377.3(DYNC2H1):c.3024T>C (p.Ile1008=)
NM_001377.3(DYNC2H1):c.3036A>G (p.Lys1012=)
NM_001377.3(DYNC2H1):c.3042G>A (p.Lys1014=)
NM_001377.3(DYNC2H1):c.3051A>G (p.Lys1017=) rs1249528182
NM_001377.3(DYNC2H1):c.3075C>T (p.His1025=)
NM_001377.3(DYNC2H1):c.3093C>T (p.Asp1031=)
NM_001377.3(DYNC2H1):c.3096+11T>C
NM_001377.3(DYNC2H1):c.3096+16T>C
NM_001377.3(DYNC2H1):c.3096+7A>G
NM_001377.3(DYNC2H1):c.3096+8T>A
NM_001377.3(DYNC2H1):c.3097-13T>C
NM_001377.3(DYNC2H1):c.3097-14T>C
NM_001377.3(DYNC2H1):c.3097-18A>T
NM_001377.3(DYNC2H1):c.3097-7C>A
NM_001377.3(DYNC2H1):c.3097-9G>C
NM_001377.3(DYNC2H1):c.3114A>G (p.Gly1038=)
NM_001377.3(DYNC2H1):c.3117T>C (p.Asn1039=)
NM_001377.3(DYNC2H1):c.3123A>G (p.Lys1041=)
NM_001377.3(DYNC2H1):c.3126A>G (p.Ser1042=)
NM_001377.3(DYNC2H1):c.3144T>C (p.Tyr1048=)
NM_001377.3(DYNC2H1):c.315T>A (p.Ile105=)
NM_001377.3(DYNC2H1):c.3165A>G (p.Lys1055=)
NM_001377.3(DYNC2H1):c.3169C>T (p.Arg1057Cys)
NM_001377.3(DYNC2H1):c.3180A>G (p.Gln1060=)
NM_001377.3(DYNC2H1):c.3192T>G (p.Gly1064=)
NM_001377.3(DYNC2H1):c.3195T>C (p.Asp1065=)
NM_001377.3(DYNC2H1):c.3213C>T (p.Gly1071=)
NM_001377.3(DYNC2H1):c.3225T>C (p.Thr1075=)
NM_001377.3(DYNC2H1):c.3240A>G (p.Ala1080=)
NM_001377.3(DYNC2H1):c.324T>G (p.Leu108=)
NM_001377.3(DYNC2H1):c.3258A>G (p.Lys1086=)
NM_001377.3(DYNC2H1):c.3276T>C (p.Asp1092=)
NM_001377.3(DYNC2H1):c.3300G>T (p.Leu1100=)
NM_001377.3(DYNC2H1):c.3302+20T>C
NM_001377.3(DYNC2H1):c.3302+7T>G
NM_001377.3(DYNC2H1):c.3302+8T>C
NM_001377.3(DYNC2H1):c.3303-12T>G
NM_001377.3(DYNC2H1):c.3303-17A>C
NM_001377.3(DYNC2H1):c.3303-244_3303-16del
NM_001377.3(DYNC2H1):c.3303-4A>C
NM_001377.3(DYNC2H1):c.3303-4A>G
NM_001377.3(DYNC2H1):c.3303-5T>C
NM_001377.3(DYNC2H1):c.3315T>C (p.His1105=)
NM_001377.3(DYNC2H1):c.3321T>C (p.Phe1107=) rs1182325179
NM_001377.3(DYNC2H1):c.3360C>T (p.Ile1120=)
NM_001377.3(DYNC2H1):c.336A>G (p.Val112=)
NM_001377.3(DYNC2H1):c.3384C>T (p.Ala1128=)
NM_001377.3(DYNC2H1):c.3387A>G (p.Gln1129=)
NM_001377.3(DYNC2H1):c.3396C>A (p.Ala1132=)
NM_001377.3(DYNC2H1):c.3402T>C (p.Tyr1134=) rs539131390
NM_001377.3(DYNC2H1):c.3408G>A (p.Glu1136=)
NM_001377.3(DYNC2H1):c.3414A>G (p.Gln1138=)
NM_001377.3(DYNC2H1):c.342A>G (p.Gln114=)
NM_001377.3(DYNC2H1):c.3450C>T (p.Ile1150=)
NM_001377.3(DYNC2H1):c.3458+11A>C
NM_001377.3(DYNC2H1):c.3458+11A>G
NM_001377.3(DYNC2H1):c.3458+17A>G
NM_001377.3(DYNC2H1):c.3459-11G>A
NM_001377.3(DYNC2H1):c.3459-12G>T
NM_001377.3(DYNC2H1):c.3459-13T>C
NM_001377.3(DYNC2H1):c.3459-17T>A
NM_001377.3(DYNC2H1):c.3459-18G>A
NM_001377.3(DYNC2H1):c.3459-19T>G
NM_001377.3(DYNC2H1):c.3474G>C (p.Leu1158=)
NM_001377.3(DYNC2H1):c.3486T>C (p.Phe1162=)
NM_001377.3(DYNC2H1):c.3487T>C (p.Leu1163=)
NM_001377.3(DYNC2H1):c.3516G>A (p.Lys1172=)
NM_001377.3(DYNC2H1):c.3525A>G (p.Glu1175=)
NM_001377.3(DYNC2H1):c.3546A>G (p.Lys1182=)
NM_001377.3(DYNC2H1):c.3549A>G (p.Leu1183=)
NM_001377.3(DYNC2H1):c.354A>G (p.Pro118=)
NM_001377.3(DYNC2H1):c.3558G>A (p.Glu1186=)
NM_001377.3(DYNC2H1):c.3564C>T (p.Asp1188=)
NM_001377.3(DYNC2H1):c.3573+19T>C
NM_001377.3(DYNC2H1):c.3573+8T>A
NM_001377.3(DYNC2H1):c.3573+9G>T
NM_001377.3(DYNC2H1):c.3574-14T>C rs1591328952
NM_001377.3(DYNC2H1):c.3574-17T>C
NM_001377.3(DYNC2H1):c.3574-19T>A
NM_001377.3(DYNC2H1):c.3574-19T>C
NM_001377.3(DYNC2H1):c.3574-19T>G
NM_001377.3(DYNC2H1):c.3574-20C>A
NM_001377.3(DYNC2H1):c.3574-20del
NM_001377.3(DYNC2H1):c.3576C>A (p.Ile1192=)
NM_001377.3(DYNC2H1):c.3576C>T (p.Ile1192=)
NM_001377.3(DYNC2H1):c.3600G>C (p.Val1200=)
NM_001377.3(DYNC2H1):c.3601A>C (p.Arg1201=)
NM_001377.3(DYNC2H1):c.3609G>A (p.Glu1203=)
NM_001377.3(DYNC2H1):c.360G>A (p.Leu120=)
NM_001377.3(DYNC2H1):c.3624T>C (p.Asp1208=)
NM_001377.3(DYNC2H1):c.366+16G>A
NM_001377.3(DYNC2H1):c.366+18C>T
NM_001377.3(DYNC2H1):c.366+19A>G rs1169526058
NM_001377.3(DYNC2H1):c.366+8A>C
NM_001377.3(DYNC2H1):c.3666G>A (p.Gly1222=)
NM_001377.3(DYNC2H1):c.3666G>T (p.Gly1222=)
NM_001377.3(DYNC2H1):c.367-11T>C
NM_001377.3(DYNC2H1):c.367-14C>T
NM_001377.3(DYNC2H1):c.367-5T>C
NM_001377.3(DYNC2H1):c.3684A>G (p.Leu1228=)
NM_001377.3(DYNC2H1):c.3690T>C (p.Phe1230=)
NM_001377.3(DYNC2H1):c.3693T>G (p.Gly1231=)
NM_001377.3(DYNC2H1):c.3702C>G (p.Leu1234=)
NM_001377.3(DYNC2H1):c.3705A>G (p.Arg1235=)
NM_001377.3(DYNC2H1):c.3717A>T (p.Thr1239=)
NM_001377.3(DYNC2H1):c.372G>A (p.Gln124=)
NM_001377.3(DYNC2H1):c.3738C>T (p.Asp1246=)
NM_001377.3(DYNC2H1):c.3744+10A>C
NM_001377.3(DYNC2H1):c.3744+10A>G
NM_001377.3(DYNC2H1):c.3744+9C>A
NM_001377.3(DYNC2H1):c.3744+9C>G
NM_001377.3(DYNC2H1):c.3745-10T>C
NM_001377.3(DYNC2H1):c.3745-18A>T
NM_001377.3(DYNC2H1):c.3745-19G>A
NM_001377.3(DYNC2H1):c.3745-19G>T
NM_001377.3(DYNC2H1):c.3745-7T>A
NM_001377.3(DYNC2H1):c.3750A>G (p.Leu1250=)
NM_001377.3(DYNC2H1):c.3759G>C (p.Arg1253=)
NM_001377.3(DYNC2H1):c.375A>G (p.Glu125=)
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu) rs200635842
NM_001377.3(DYNC2H1):c.3801T>C (p.Leu1267=)
NM_001377.3(DYNC2H1):c.3807T>G (p.Leu1269=)
NM_001377.3(DYNC2H1):c.3834A>G (p.Leu1278=)
NM_001377.3(DYNC2H1):c.3843T>C (p.Tyr1281=)
NM_001377.3(DYNC2H1):c.3849C>T (p.Asp1283=)
NM_001377.3(DYNC2H1):c.384A>G (p.Arg128=)
NM_001377.3(DYNC2H1):c.3852C>T (p.Ser1284=)
NM_001377.3(DYNC2H1):c.3861A>G (p.Arg1287=)
NM_001377.3(DYNC2H1):c.3879A>G (p.Lys1293=)
NM_001377.3(DYNC2H1):c.3912T>C (p.Asp1304=)
NM_001377.3(DYNC2H1):c.3916A>C (p.Arg1306=)
NM_001377.3(DYNC2H1):c.3927C>T (p.Leu1309=) rs1471816789
NM_001377.3(DYNC2H1):c.3930A>G (p.Gln1310=)
NM_001377.3(DYNC2H1):c.3939G>A (p.Lys1313=)
NM_001377.3(DYNC2H1):c.3951T>C (p.Tyr1317=)
NM_001377.3(DYNC2H1):c.4008T>C (p.Asp1336=)
NM_001377.3(DYNC2H1):c.4017G>A (p.Leu1339=)
NM_001377.3(DYNC2H1):c.4044G>A (p.Lys1348=)
NM_001377.3(DYNC2H1):c.4050G>A (p.Val1350=)
NM_001377.3(DYNC2H1):c.4081T>C (p.Leu1361=)
NM_001377.3(DYNC2H1):c.4086A>G (p.Pro1362=)
NM_001377.3(DYNC2H1):c.408T>C (p.Asn136=)
NM_001377.3(DYNC2H1):c.4098A>C (p.Thr1366=)
NM_001377.3(DYNC2H1):c.4101C>T (p.Arg1367=)
NM_001377.3(DYNC2H1):c.4119A>G (p.Glu1373=)
NM_001377.3(DYNC2H1):c.4125T>C (p.Phe1375=)
NM_001377.3(DYNC2H1):c.4127+15G>A
NM_001377.3(DYNC2H1):c.4127+17A>G
NM_001377.3(DYNC2H1):c.4127+17A>T
NM_001377.3(DYNC2H1):c.4127+9A>G
NM_001377.3(DYNC2H1):c.4128-14T>A
NM_001377.3(DYNC2H1):c.4128-14T>C
NM_001377.3(DYNC2H1):c.4128-18C>T
NM_001377.3(DYNC2H1):c.4128-19A>C
NM_001377.3(DYNC2H1):c.4128-19A>G
NM_001377.3(DYNC2H1):c.4131A>G (p.Ser1377=)
NM_001377.3(DYNC2H1):c.4146C>A (p.Ile1382=)
NM_001377.3(DYNC2H1):c.4155C>T (p.Asp1385=)
NM_001377.3(DYNC2H1):c.4164C>T (p.Val1388=)
NM_001377.3(DYNC2H1):c.4179T>A (p.Thr1393=)
NM_001377.3(DYNC2H1):c.4215T>G (p.Leu1405=)
NM_001377.3(DYNC2H1):c.4238_4239delinsGG (p.Lys1413Arg)
NM_001377.3(DYNC2H1):c.423A>G (p.Leu141=)
NM_001377.3(DYNC2H1):c.4248T>C (p.Asn1416=)
NM_001377.3(DYNC2H1):c.4257G>A (p.Leu1419=)
NM_001377.3(DYNC2H1):c.4260+11T>C
NM_001377.3(DYNC2H1):c.4260+15A>G
NM_001377.3(DYNC2H1):c.4261-11A>C
NM_001377.3(DYNC2H1):c.4261-18T>C
NM_001377.3(DYNC2H1):c.4261-6T>G
NM_001377.3(DYNC2H1):c.4266A>G (p.Lys1422=)
NM_001377.3(DYNC2H1):c.4281A>T (p.Pro1427=)
NM_001377.3(DYNC2H1):c.4302T>C (p.Asp1434=)
NM_001377.3(DYNC2H1):c.4314A>G (p.Leu1438=)
NM_001377.3(DYNC2H1):c.4326C>G (p.Gly1442=)
NM_001377.3(DYNC2H1):c.4329G>A (p.Gln1443=) rs1860964045
NM_001377.3(DYNC2H1):c.433T>C (p.Leu145=)
NM_001377.3(DYNC2H1):c.435G>A (p.Leu145=)
NM_001377.3(DYNC2H1):c.4378+14T>C
NM_001377.3(DYNC2H1):c.4378+15T>A
NM_001377.3(DYNC2H1):c.4378+7T>A
NM_001377.3(DYNC2H1):c.4378+9C>G
NM_001377.3(DYNC2H1):c.4379-13T>C
NM_001377.3(DYNC2H1):c.4379-16T>C
NM_001377.3(DYNC2H1):c.4379-18A>T
NM_001377.3(DYNC2H1):c.4379-5T>A
NM_001377.3(DYNC2H1):c.438T>G (p.Gly146=)
NM_001377.3(DYNC2H1):c.4395C>T (p.Cys1465=)
NM_001377.3(DYNC2H1):c.4413A>G (p.Lys1471=)
NM_001377.3(DYNC2H1):c.4419A>T (p.Ile1473=)
NM_001377.3(DYNC2H1):c.4431A>G (p.Lys1477=)
NM_001377.3(DYNC2H1):c.4449T>G (p.Val1483=)
NM_001377.3(DYNC2H1):c.4452A>G (p.Val1484=)
NM_001377.3(DYNC2H1):c.4452A>T (p.Val1484=)
NM_001377.3(DYNC2H1):c.4485T>C (p.Asn1495=)
NM_001377.3(DYNC2H1):c.4491+14T>A
NM_001377.3(DYNC2H1):c.4491+16T>C
NM_001377.3(DYNC2H1):c.4491+8A>C
NM_001377.3(DYNC2H1):c.4500G>A (p.Leu1500=)
NM_001377.3(DYNC2H1):c.4512C>T (p.Ala1504=)
NM_001377.3(DYNC2H1):c.4542G>A (p.Leu1514=)
NM_001377.3(DYNC2H1):c.4545G>A (p.Leu1515=)
NM_001377.3(DYNC2H1):c.4557T>C (p.Val1519=)
NM_001377.3(DYNC2H1):c.4563T>C (p.Thr1521=)
NM_001377.3(DYNC2H1):c.456A>G (p.Ser152=)
NM_001377.3(DYNC2H1):c.4596T>C (p.Ser1532=)
NM_001377.3(DYNC2H1):c.459C>T (p.Asp153=)
NM_001377.3(DYNC2H1):c.45T>C (p.Thr15=)
NM_001377.3(DYNC2H1):c.4605T>C (p.Pro1535=)
NM_001377.3(DYNC2H1):c.4611+14C>A
NM_001377.3(DYNC2H1):c.4611+15G>T
NM_001377.3(DYNC2H1):c.4612-10T>C
NM_001377.3(DYNC2H1):c.4612-10del
NM_001377.3(DYNC2H1):c.4612-12T>C
NM_001377.3(DYNC2H1):c.4612-16T>C
NM_001377.3(DYNC2H1):c.4612-5A>G rs2134944031
NM_001377.3(DYNC2H1):c.4626G>A (p.Ala1542=)
NM_001377.3(DYNC2H1):c.4629G>A (p.Glu1543=)
NM_001377.3(DYNC2H1):c.4638A>G (p.Lys1546=)
NM_001377.3(DYNC2H1):c.4641C>T (p.Phe1547=)
NM_001377.3(DYNC2H1):c.4695A>T (p.Thr1565=)
NM_001377.3(DYNC2H1):c.4701G>A (p.Leu1567=)
NM_001377.3(DYNC2H1):c.4702G>T (p.Val1568Leu)
NM_001377.3(DYNC2H1):c.4716G>A (p.Glu1572=)
NM_001377.3(DYNC2H1):c.4728C>T (p.Asn1576=) rs72989738
NM_001377.3(DYNC2H1):c.4743T>G (p.Ser1581=)
NM_001377.3(DYNC2H1):c.4755G>A (p.Gly1585=)
NM_001377.3(DYNC2H1):c.4762+17C>A
NM_001377.3(DYNC2H1):c.4762+9A>G
NM_001377.3(DYNC2H1):c.4763-16T>C
NM_001377.3(DYNC2H1):c.4794C>T (p.Ala1598=)
NM_001377.3(DYNC2H1):c.4806C>T (p.Asp1602=)
NM_001377.3(DYNC2H1):c.4818T>C (p.Asn1606=)
NM_001377.3(DYNC2H1):c.4833G>A (p.Lys1611=)
NM_001377.3(DYNC2H1):c.4836G>A (p.Gln1612=) rs1353156483
NM_001377.3(DYNC2H1):c.4845A>G (p.Gln1615=)
NM_001377.3(DYNC2H1):c.4857T>C (p.His1619=)
NM_001377.3(DYNC2H1):c.4893A>G (p.Arg1631=)
NM_001377.3(DYNC2H1):c.489A>G (p.Glu163=)
NM_001377.3(DYNC2H1):c.4917A>G (p.Thr1639=)
NM_001377.3(DYNC2H1):c.4941T>G (p.Ser1647=) rs981069530
NM_001377.3(DYNC2H1):c.495C>T (p.Asp165=)
NM_001377.3(DYNC2H1):c.4968+12G>A
NM_001377.3(DYNC2H1):c.4968+8T>G
NM_001377.3(DYNC2H1):c.4969-6G>A
NM_001377.3(DYNC2H1):c.4971T>A (p.Gly1657=)
NM_001377.3(DYNC2H1):c.4977T>G (p.Ala1659=)
NM_001377.3(DYNC2H1):c.4992T>C (p.Tyr1664=)
NM_001377.3(DYNC2H1):c.499C>A (p.Arg167=)
NM_001377.3(DYNC2H1):c.502+11A>G
NM_001377.3(DYNC2H1):c.502+13A>T
NM_001377.3(DYNC2H1):c.502+20T>A
NM_001377.3(DYNC2H1):c.502+9C>T
NM_001377.3(DYNC2H1):c.503-14C>G
NM_001377.3(DYNC2H1):c.503-17C>T
NM_001377.3(DYNC2H1):c.503-18C>T
NM_001377.3(DYNC2H1):c.503-19C>T
NM_001377.3(DYNC2H1):c.503-20T>C
NM_001377.3(DYNC2H1):c.5058T>C (p.Asn1686=)
NM_001377.3(DYNC2H1):c.5064T>C (p.Tyr1688=)
NM_001377.3(DYNC2H1):c.5122A>C (p.Arg1708=)
NM_001377.3(DYNC2H1):c.5151+12A>C
NM_001377.3(DYNC2H1):c.5151+13A>T
NM_001377.3(DYNC2H1):c.5151+18C>G
NM_001377.3(DYNC2H1):c.5151+7T>C
NM_001377.3(DYNC2H1):c.5152-15_5152-13del
NM_001377.3(DYNC2H1):c.5152-16T>C
NM_001377.3(DYNC2H1):c.5152-9G>T
NM_001377.3(DYNC2H1):c.5157C>T (p.Ile1719=)
NM_001377.3(DYNC2H1):c.5166G>A (p.Lys1722=)
NM_001377.3(DYNC2H1):c.5178A>C (p.Arg1726=) rs376307935
NM_001377.3(DYNC2H1):c.5178A>G (p.Arg1726=)
NM_001377.3(DYNC2H1):c.5199G>A (p.Lys1733=)
NM_001377.3(DYNC2H1):c.51C>A (p.Thr17=)
NM_001377.3(DYNC2H1):c.5226A>G (p.Glu1742=)
NM_001377.3(DYNC2H1):c.5241A>G (p.Glu1747=)
NM_001377.3(DYNC2H1):c.5250A>G (p.Val1750=)
NM_001377.3(DYNC2H1):c.5250A>T (p.Val1750=)
NM_001377.3(DYNC2H1):c.5253G>T (p.Leu1751=)
NM_001377.3(DYNC2H1):c.5256A>G (p.Ser1752=)
NM_001377.3(DYNC2H1):c.525G>A (p.Glu175=)
NM_001377.3(DYNC2H1):c.5262T>C (p.Val1754=)
NM_001377.3(DYNC2H1):c.5271A>G (p.Gln1757=)
NM_001377.3(DYNC2H1):c.5280A>T (p.Thr1760=)
NM_001377.3(DYNC2H1):c.5310T>C (p.Thr1770=)
NM_001377.3(DYNC2H1):c.5331G>A (p.Lys1777=)
NM_001377.3(DYNC2H1):c.5334+15G>T
NM_001377.3(DYNC2H1):c.5334+16G>A
NM_001377.3(DYNC2H1):c.5334+17G>C
NM_001377.3(DYNC2H1):c.5334+17del
NM_001377.3(DYNC2H1):c.5334+7A>G
NM_001377.3(DYNC2H1):c.5335-11_5335-8del
NM_001377.3(DYNC2H1):c.5379T>C (p.Pro1793=)
NM_001377.3(DYNC2H1):c.5382T>C (p.Ala1794=)
NM_001377.3(DYNC2H1):c.5391T>A (p.Gly1797=)
NM_001377.3(DYNC2H1):c.5415T>C (p.Pro1805=)
NM_001377.3(DYNC2H1):c.5469G>A (p.Glu1823=)
NM_001377.3(DYNC2H1):c.5493T>C (p.Tyr1831=)
NM_001377.3(DYNC2H1):c.5520A>G (p.Val1840=)
NM_001377.3(DYNC2H1):c.5521T>C (p.Leu1841=)
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His) rs199960819
NM_001377.3(DYNC2H1):c.5553A>G (p.Leu1851=)
NM_001377.3(DYNC2H1):c.5558+10C>T
NM_001377.3(DYNC2H1):c.5558+13G>C
NM_001377.3(DYNC2H1):c.5558+16C>G
NM_001377.3(DYNC2H1):c.5558+16C>T
NM_001377.3(DYNC2H1):c.5559-13G>A
NM_001377.3(DYNC2H1):c.5559-19T>C
NM_001377.3(DYNC2H1):c.5559-7A>G
NM_001377.3(DYNC2H1):c.5559-9C>G
NM_001377.3(DYNC2H1):c.5571A>C (p.Thr1857=)
NM_001377.3(DYNC2H1):c.5586T>C (p.Tyr1862=)
NM_001377.3(DYNC2H1):c.558A>G (p.Gly186=)
NM_001377.3(DYNC2H1):c.5610G>A (p.Lys1870=)
NM_001377.3(DYNC2H1):c.5613A>G (p.Thr1871=)
NM_001377.3(DYNC2H1):c.5628T>C (p.Ser1876=) rs1329413988
NM_001377.3(DYNC2H1):c.5631A>G (p.Gly1877=)
NM_001377.3(DYNC2H1):c.564A>G (p.Lys188=) rs2134689429
NM_001377.3(DYNC2H1):c.5674+11T>C
NM_001377.3(DYNC2H1):c.5674+7T>C
NM_001377.3(DYNC2H1):c.5675-10T>G
NM_001377.3(DYNC2H1):c.5675-14A>C
NM_001377.3(DYNC2H1):c.5675-18A>C
NM_001377.3(DYNC2H1):c.5675-20A>G
NM_001377.3(DYNC2H1):c.5675-20A>T
NM_001377.3(DYNC2H1):c.5675-5del
NM_001377.3(DYNC2H1):c.5675-6_5675-5del
NM_001377.3(DYNC2H1):c.5675-7T>G
NM_001377.3(DYNC2H1):c.5679T>C (p.Asn1893=)
NM_001377.3(DYNC2H1):c.5685T>C (p.Ser1895=)
NM_001377.3(DYNC2H1):c.5688T>C (p.His1896=)
NM_001377.3(DYNC2H1):c.5718C>G (p.Thr1906=)
NM_001377.3(DYNC2H1):c.5724A>G (p.Ser1908=)
NM_001377.3(DYNC2H1):c.5733G>A (p.Thr1911=)
NM_001377.3(DYNC2H1):c.5733G>C (p.Thr1911=)
NM_001377.3(DYNC2H1):c.5739T>C (p.Thr1913=)
NM_001377.3(DYNC2H1):c.5757T>C (p.Asp1919=)
NM_001377.3(DYNC2H1):c.5791T>C (p.Leu1931=)
NM_001377.3(DYNC2H1):c.5793G>A (p.Leu1931=)
NM_001377.3(DYNC2H1):c.5820T>C (p.Ser1940=)
NM_001377.3(DYNC2H1):c.5826A>G (p.Ala1942=)
NM_001377.3(DYNC2H1):c.5838C>T (p.Val1946=)
NM_001377.3(DYNC2H1):c.5847G>A (p.Glu1949=)
NM_001377.3(DYNC2H1):c.5850C>T (p.Ala1950=)
NM_001377.3(DYNC2H1):c.585C>T (p.Ala195=) rs1858326731
NM_001377.3(DYNC2H1):c.5874+7G>T rs1405066753
NM_001377.3(DYNC2H1):c.5874+9C>A
NM_001377.3(DYNC2H1):c.5875-16A>T
NM_001377.3(DYNC2H1):c.5875-20A>G
NM_001377.3(DYNC2H1):c.5875-20A>T rs532424006
NM_001377.3(DYNC2H1):c.5875-5A>T
NM_001377.3(DYNC2H1):c.5875-6T>C
NM_001377.3(DYNC2H1):c.5913G>A (p.Gln1971=)
NM_001377.3(DYNC2H1):c.591T>C (p.Tyr197=)
NM_001377.3(DYNC2H1):c.5922A>T (p.Gly1974=)
NM_001377.3(DYNC2H1):c.5934T>C (p.Val1978=)
NM_001377.3(DYNC2H1):c.5943T>C (p.Ser1981=)
NM_001377.3(DYNC2H1):c.5961G>A (p.Thr1987=)
NM_001377.3(DYNC2H1):c.5985G>A (p.Ala1995=)
NM_001377.3(DYNC2H1):c.6012A>G (p.Lys2004=)
NM_001377.3(DYNC2H1):c.603A>G (p.Leu201=)
NM_001377.3(DYNC2H1):c.6042T>C (p.Pro2014=)
NM_001377.3(DYNC2H1):c.6069C>T (p.Asp2023=)
NM_001377.3(DYNC2H1):c.6084A>G (p.Glu2028=)
NM_001377.3(DYNC2H1):c.6093T>C (p.Asp2031=)
NM_001377.3(DYNC2H1):c.60C>T (p.Tyr20=)
NM_001377.3(DYNC2H1):c.6105A>T (p.Thr2035=)
NM_001377.3(DYNC2H1):c.6111T>C (p.Ser2037=)
NM_001377.3(DYNC2H1):c.6120A>G (p.Gln2040=)
NM_001377.3(DYNC2H1):c.6139+12T>G
NM_001377.3(DYNC2H1):c.6139+19T>C
NM_001377.3(DYNC2H1):c.6144C>T (p.Val2048=)
NM_001377.3(DYNC2H1):c.6147C>T (p.Ser2049=)
NM_001377.3(DYNC2H1):c.6150A>C (p.Ser2050=)
NM_001377.3(DYNC2H1):c.6183A>G (p.Glu2061=)
NM_001377.3(DYNC2H1):c.6207T>C (p.Val2069=)
NM_001377.3(DYNC2H1):c.6208C>T (p.Leu2070=)
NM_001377.3(DYNC2H1):c.622-19T>G
NM_001377.3(DYNC2H1):c.622-4C>A
NM_001377.3(DYNC2H1):c.622-8T>G
NM_001377.3(DYNC2H1):c.6228G>A (p.Leu2076=)
NM_001377.3(DYNC2H1):c.624G>A (p.Glu208=)
NM_001377.3(DYNC2H1):c.6255G>A (p.Gln2085=)
NM_001377.3(DYNC2H1):c.6264A>G (p.Pro2088=)
NM_001377.3(DYNC2H1):c.6267T>C (p.Asn2089=) rs757263822
NM_001377.3(DYNC2H1):c.6273C>T (p.Asn2091=)
NM_001377.3(DYNC2H1):c.6276T>C (p.Phe2092=)
NM_001377.3(DYNC2H1):c.6306A>G (p.Ala2102=)
NM_001377.3(DYNC2H1):c.6347+14T>C
NM_001377.3(DYNC2H1):c.6347+7C>T
NM_001377.3(DYNC2H1):c.6347+8A>G
NM_001377.3(DYNC2H1):c.6347+8A>T
NM_001377.3(DYNC2H1):c.6348-17T>C
NM_001377.3(DYNC2H1):c.6348-4T>G
NM_001377.3(DYNC2H1):c.6351T>C (p.Asp2117=)
NM_001377.3(DYNC2H1):c.639C>T (p.Asp213=)
NM_001377.3(DYNC2H1):c.6477+10C>T
NM_001377.3(DYNC2H1):c.6477+12A>G
NM_001377.3(DYNC2H1):c.6477+15A>G
NM_001377.3(DYNC2H1):c.6477+15_6477+17del
NM_001377.3(DYNC2H1):c.6477+17A>G
NM_001377.3(DYNC2H1):c.6477+19T>A
NM_001377.3(DYNC2H1):c.6478-12T>A
NM_001377.3(DYNC2H1):c.6478-19C>T
NM_001377.3(DYNC2H1):c.648C>T (p.Ser216=)
NM_001377.3(DYNC2H1):c.6510G>A (p.Gly2170=)
NM_001377.3(DYNC2H1):c.651A>G (p.Leu217=)
NM_001377.3(DYNC2H1):c.6522T>C (p.Asn2174=)
NM_001377.3(DYNC2H1):c.6537A>G (p.Leu2179=)
NM_001377.3(DYNC2H1):c.6543T>C (p.Gly2181=)
NM_001377.3(DYNC2H1):c.6555T>C (p.His2185=)
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.6579A>C (p.Ile2193=)
NM_001377.3(DYNC2H1):c.6582G>A (p.Arg2194=)
NM_001377.3(DYNC2H1):c.6585A>T (p.Gly2195=)
NM_001377.3(DYNC2H1):c.6612A>C (p.Ser2204=)
NM_001377.3(DYNC2H1):c.6633+13T>C
NM_001377.3(DYNC2H1):c.6633+14A>G
NM_001377.3(DYNC2H1):c.6633+15T>C
NM_001377.3(DYNC2H1):c.6633+16dup
NM_001377.3(DYNC2H1):c.6634-13T>C
NM_001377.3(DYNC2H1):c.6634-13T>G
NM_001377.3(DYNC2H1):c.6634-18C>G
NM_001377.3(DYNC2H1):c.6634-8C>T
NM_001377.3(DYNC2H1):c.6636T>C (p.Val2212=)
NM_001377.3(DYNC2H1):c.6663A>G (p.Pro2221=)
NM_001377.3(DYNC2H1):c.66G>T (p.Gly22=)
NM_001377.3(DYNC2H1):c.6711A>C (p.Arg2237=)
NM_001377.3(DYNC2H1):c.6720A>G (p.Thr2240=)
NM_001377.3(DYNC2H1):c.6738A>G (p.Pro2246=)
NM_001377.3(DYNC2H1):c.6753T>G (p.Ala2251=)
NM_001377.3(DYNC2H1):c.6768C>T (p.Asn2256=)
NM_001377.3(DYNC2H1):c.6783A>G (p.Pro2261=)
NM_001377.3(DYNC2H1):c.6786C>G (p.Val2262=)
NM_001377.3(DYNC2H1):c.678T>C (p.Thr226=)
NM_001377.3(DYNC2H1):c.6801C>T (p.Asp2267=)
NM_001377.3(DYNC2H1):c.6814C>T (p.Leu2272=)
NM_001377.3(DYNC2H1):c.6858C>G (p.Pro2286=)
NM_001377.3(DYNC2H1):c.6873A>G (p.Gly2291=)
NM_001377.3(DYNC2H1):c.6888C>T (p.Gly2296=)
NM_001377.3(DYNC2H1):c.6891A>G (p.Lys2297=)
NM_001377.3(DYNC2H1):c.6893+13T>C
NM_001377.3(DYNC2H1):c.6893+17C>T
NM_001377.3(DYNC2H1):c.6894-13G>A
NM_001377.3(DYNC2H1):c.6894-14T>C
NM_001377.3(DYNC2H1):c.6894-15A>G
NM_001377.3(DYNC2H1):c.6894-16C>A
NM_001377.3(DYNC2H1):c.6894-18G>A
NM_001377.3(DYNC2H1):c.6894-19T>A
NM_001377.3(DYNC2H1):c.6900G>A (p.Leu2300=)
NM_001377.3(DYNC2H1):c.6912A>G (p.Ala2304=)
NM_001377.3(DYNC2H1):c.6918A>C (p.Ser2306=)
NM_001377.3(DYNC2H1):c.6924C>A (p.Leu2308=)
NM_001377.3(DYNC2H1):c.6927G>A (p.Arg2309=)
NM_001377.3(DYNC2H1):c.6933T>G (p.Thr2311=)
NM_001377.3(DYNC2H1):c.6936A>G (p.Gln2312=)
NM_001377.3(DYNC2H1):c.6954T>C (p.Cys2318=)
NM_001377.3(DYNC2H1):c.6957T>C (p.Ser2319=)
NM_001377.3(DYNC2H1):c.6963A>G (p.Gln2321=)
NM_001377.3(DYNC2H1):c.6975A>G (p.Arg2325=)
NM_001377.3(DYNC2H1):c.6981C>T (p.Leu2327=)
NM_001377.3(DYNC2H1):c.699T>C (p.Asp233=)
NM_001377.3(DYNC2H1):c.7001C>T (p.Thr2334Ile)
NM_001377.3(DYNC2H1):c.7005C>T (p.Cys2335=)
NM_001377.3(DYNC2H1):c.7020T>A (p.Thr2340=)
NM_001377.3(DYNC2H1):c.7020T>G (p.Thr2340=)
NM_001377.3(DYNC2H1):c.7032T>C (p.Arg2344=)
NM_001377.3(DYNC2H1):c.7035A>C (p.Val2345=)
NM_001377.3(DYNC2H1):c.7035A>G (p.Val2345=)
NM_001377.3(DYNC2H1):c.7065T>A (p.Val2355=)
NM_001377.3(DYNC2H1):c.7074A>G (p.Leu2358=)
NM_001377.3(DYNC2H1):c.7098T>G (p.Leu2366=)
NM_001377.3(DYNC2H1):c.7101T>C (p.Asp2367=)
NM_001377.3(DYNC2H1):c.7110G>C (p.Gly2370=)
NM_001377.3(DYNC2H1):c.7113C>G (p.Thr2371=)
NM_001377.3(DYNC2H1):c.7113C>T (p.Thr2371=)
NM_001377.3(DYNC2H1):c.7119T>A (p.Thr2373=)
NM_001377.3(DYNC2H1):c.7140+11T>C
NM_001377.3(DYNC2H1):c.7140+13del
NM_001377.3(DYNC2H1):c.7140+17G>A
NM_001377.3(DYNC2H1):c.7140+19A>C
NM_001377.3(DYNC2H1):c.7141-18A>G
NM_001377.3(DYNC2H1):c.7141-19T>C
NM_001377.3(DYNC2H1):c.7174T>C (p.Leu2392=)
NM_001377.3(DYNC2H1):c.7231A>C (p.Arg2411=)
NM_001377.3(DYNC2H1):c.7236G>A (p.Leu2412=)
NM_001377.3(DYNC2H1):c.7248A>G (p.Lys2416=)
NM_001377.3(DYNC2H1):c.7254T>C (p.Thr2418=)
NM_001377.3(DYNC2H1):c.7272C>T (p.Ile2424=)
NM_001377.3(DYNC2H1):c.7292+10T>C
NM_001377.3(DYNC2H1):c.7292+14T>A
NM_001377.3(DYNC2H1):c.7292+19C>G
NM_001377.3(DYNC2H1):c.7293-11A>G
NM_001377.3(DYNC2H1):c.7293-11A>T
NM_001377.3(DYNC2H1):c.7293-13C>A
NM_001377.3(DYNC2H1):c.7293-17T>C
NM_001377.3(DYNC2H1):c.729T>C (p.Tyr243=)
NM_001377.3(DYNC2H1):c.7314A>G (p.Leu2438=)
NM_001377.3(DYNC2H1):c.7317A>G (p.Gln2439=)
NM_001377.3(DYNC2H1):c.7323T>A (p.Ile2441=)
NM_001377.3(DYNC2H1):c.7326T>C (p.Tyr2442=)
NM_001377.3(DYNC2H1):c.732T>A (p.Pro244=)
NM_001377.3(DYNC2H1):c.7332A>G (p.Ala2444=)
NM_001377.3(DYNC2H1):c.7368T>C (p.Asn2456=)
NM_001377.3(DYNC2H1):c.7425A>G (p.Gln2475=)
NM_001377.3(DYNC2H1):c.7428G>T (p.Val2476=)
NM_001377.3(DYNC2H1):c.7437+18T>C
NM_001377.3(DYNC2H1):c.7437+8T>C
NM_001377.3(DYNC2H1):c.7438-14A>G
NM_001377.3(DYNC2H1):c.7438-16G>A
NM_001377.3(DYNC2H1):c.7438-16G>C
NM_001377.3(DYNC2H1):c.7438-9C>G
NM_001377.3(DYNC2H1):c.7440G>C (p.Val2480=)
NM_001377.3(DYNC2H1):c.7467T>C (p.Tyr2489=)
NM_001377.3(DYNC2H1):c.7470T>C (p.Ser2490=)
NM_001377.3(DYNC2H1):c.7476T>C (p.Tyr2492=)
NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)
NM_001377.3(DYNC2H1):c.7485T>C (p.Thr2495=)
NM_001377.3(DYNC2H1):c.7488T>C (p.Pro2496=)
NM_001377.3(DYNC2H1):c.7527T>C (p.Tyr2509=)
NM_001377.3(DYNC2H1):c.753C>G (p.Leu251=)
NM_001377.3(DYNC2H1):c.7540+10G>A
NM_001377.3(DYNC2H1):c.7540+13del
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>C
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001377.3(DYNC2H1):c.7540+17T>G
NM_001377.3(DYNC2H1):c.7540+18G>C
NM_001377.3(DYNC2H1):c.7540+19del
NM_001377.3(DYNC2H1):c.7540+20A>T rs535988847
NM_001377.3(DYNC2H1):c.7541-20T>C
NM_001377.3(DYNC2H1):c.7541-8T>C
NM_001377.3(DYNC2H1):c.7541-8T>G
NM_001377.3(DYNC2H1):c.7542A>G (p.Gly2514=)
NM_001377.3(DYNC2H1):c.7542A>T (p.Gly2514=)
NM_001377.3(DYNC2H1):c.7552C>T (p.His2518Tyr)
NM_001377.3(DYNC2H1):c.7554T>C (p.His2518=) rs2135052860
NM_001377.3(DYNC2H1):c.7569G>T (p.Val2523=)
NM_001377.3(DYNC2H1):c.7602A>G (p.Leu2534=)
NM_001377.3(DYNC2H1):c.7626A>G (p.Ala2542=)
NM_001377.3(DYNC2H1):c.766+10A>G
NM_001377.3(DYNC2H1):c.766+13A>C
NM_001377.3(DYNC2H1):c.767-10G>A
NM_001377.3(DYNC2H1):c.767-12A>C
NM_001377.3(DYNC2H1):c.767-12A>G
NM_001377.3(DYNC2H1):c.767-12_767-11del
NM_001377.3(DYNC2H1):c.767-5A>G
NM_001377.3(DYNC2H1):c.7683C>A (p.Gly2561=)
NM_001377.3(DYNC2H1):c.7686A>G (p.Ser2562=)
NM_001377.3(DYNC2H1):c.7689C>T (p.Asp2563=)
NM_001377.3(DYNC2H1):c.7708+14G>A
NM_001377.3(DYNC2H1):c.7708+19T>C
NM_001377.3(DYNC2H1):c.7708+20G>A
NM_001377.3(DYNC2H1):c.7708+20G>T
NM_001377.3(DYNC2H1):c.7709-14A>G
NM_001377.3(DYNC2H1):c.7709-15C>A
NM_001377.3(DYNC2H1):c.7709-9T>C
NM_001377.3(DYNC2H1):c.7709A>G (p.Asp2570Gly)
NM_001377.3(DYNC2H1):c.7725A>G (p.Thr2575=)
NM_001377.3(DYNC2H1):c.7737G>A (p.Arg2579=)
NM_001377.3(DYNC2H1):c.7740T>C (p.His2580=)
NM_001377.3(DYNC2H1):c.7764A>C (p.Pro2588=)
NM_001377.3(DYNC2H1):c.7764A>G (p.Pro2588=)
NM_001377.3(DYNC2H1):c.7773A>C (p.Pro2591=)
NM_001377.3(DYNC2H1):c.7773A>G (p.Pro2591=)
NM_001377.3(DYNC2H1):c.7774T>C (p.Leu2592=)
NM_001377.3(DYNC2H1):c.7794A>T (p.Pro2598=) rs781691287
NM_001377.3(DYNC2H1):c.7797T>C (p.Leu2599=)
NM_001377.3(DYNC2H1):c.7806A>G (p.Leu2602=)
NM_001377.3(DYNC2H1):c.7839+19A>G
NM_001377.3(DYNC2H1):c.7839+8A>G
NM_001377.3(DYNC2H1):c.7839+9T>C
NM_001377.3(DYNC2H1):c.7839+9T>G
NM_001377.3(DYNC2H1):c.7840-17T>C
NM_001377.3(DYNC2H1):c.7840-19A>G
NM_001377.3(DYNC2H1):c.7840-20T>C
NM_001377.3(DYNC2H1):c.7840-5A>T
NM_001377.3(DYNC2H1):c.7840-6T>A
NM_001377.3(DYNC2H1):c.7857A>G (p.Gly2619=)
NM_001377.3(DYNC2H1):c.7860A>G (p.Arg2620=)
NM_001377.3(DYNC2H1):c.7866C>T (p.Asn2622=)
NM_001377.3(DYNC2H1):c.7900T>C (p.Leu2634=)
NM_001377.3(DYNC2H1):c.7905G>A (p.Glu2635=)
NM_001377.3(DYNC2H1):c.7923T>C (p.Asp2641=)
NM_001377.3(DYNC2H1):c.7932G>C (p.Leu2644=)
NM_001377.3(DYNC2H1):c.7950A>G (p.Ser2650=)
NM_001377.3(DYNC2H1):c.7956A>C (p.Leu2652=)
NM_001377.3(DYNC2H1):c.7983T>A (p.Arg2661=)
NM_001377.3(DYNC2H1):c.8010C>T (p.His2670=)
NM_001377.3(DYNC2H1):c.8022G>A (p.Ala2674=)
NM_001377.3(DYNC2H1):c.8031T>C (p.Phe2677=)
NM_001377.3(DYNC2H1):c.8052A>T (p.Gly2684=)
NM_001377.3(DYNC2H1):c.8055T>C (p.Tyr2685=)
NM_001377.3(DYNC2H1):c.8061G>A (p.Leu2687=)
NM_001377.3(DYNC2H1):c.8076T>C (p.Asn2692=)
NM_001377.3(DYNC2H1):c.807T>G (p.Thr269=)
NM_001377.3(DYNC2H1):c.8088+10C>A
NM_001377.3(DYNC2H1):c.8088+11C>A
NM_001377.3(DYNC2H1):c.8089-17A>T
NM_001377.3(DYNC2H1):c.8089-18_8089-17insG
NM_001377.3(DYNC2H1):c.8089-19A>G
NM_001377.3(DYNC2H1):c.8089-20A>G
NM_001377.3(DYNC2H1):c.8089-4G>A
NM_001377.3(DYNC2H1):c.8091G>C (p.Val2697=)
NM_001377.3(DYNC2H1):c.8106A>T (p.Gly2702=)
NM_001377.3(DYNC2H1):c.8128T>C (p.Leu2710=)
NM_001377.3(DYNC2H1):c.813C>T (p.Asn271=)
NM_001377.3(DYNC2H1):c.8163A>G (p.Thr2721=)
NM_001377.3(DYNC2H1):c.8167T>C (p.Leu2723=)
NM_001377.3(DYNC2H1):c.816G>T (p.Leu272=)
NM_001377.3(DYNC2H1):c.8178C>T (p.Ile2726=)
NM_001377.3(DYNC2H1):c.8187T>G (p.Leu2729=)
NM_001377.3(DYNC2H1):c.8190G>A (p.Leu2730=)
NM_001377.3(DYNC2H1):c.8197+10C>G
NM_001377.3(DYNC2H1):c.8197+15T>G
NM_001377.3(DYNC2H1):c.8198-10T>C rs778867019
NM_001377.3(DYNC2H1):c.8198-13T>C
NM_001377.3(DYNC2H1):c.8198-16T>C
NM_001377.3(DYNC2H1):c.8198-4G>A
NM_001377.3(DYNC2H1):c.8217T>C (p.Tyr2739=)
NM_001377.3(DYNC2H1):c.8229A>G (p.Glu2743=)
NM_001377.3(DYNC2H1):c.8250A>T (p.Pro2750=)
NM_001377.3(DYNC2H1):c.8268A>G (p.Ser2756=)
NM_001377.3(DYNC2H1):c.8280T>C (p.Phe2760=)
NM_001377.3(DYNC2H1):c.8311+13G>C
NM_001377.3(DYNC2H1):c.8311+15A>G
NM_001377.3(DYNC2H1):c.8311+20T>C
NM_001377.3(DYNC2H1):c.8311+7G>A
NM_001377.3(DYNC2H1):c.8311+7G>C
NM_001377.3(DYNC2H1):c.8311+8A>G
NM_001377.3(DYNC2H1):c.8311+9C>T
NM_001377.3(DYNC2H1):c.8312-16C>A
NM_001377.3(DYNC2H1):c.8312-18T>C
NM_001377.3(DYNC2H1):c.8312-19A>C
NM_001377.3(DYNC2H1):c.8312-19A>G
NM_001377.3(DYNC2H1):c.8312-9A>G
NM_001377.3(DYNC2H1):c.8352T>A (p.Ser2784=)
NM_001377.3(DYNC2H1):c.8352T>C (p.Ser2784=)
NM_001377.3(DYNC2H1):c.8364C>T (p.Asn2788=)
NM_001377.3(DYNC2H1):c.8373A>T (p.Ile2791=)
NM_001377.3(DYNC2H1):c.8400T>C (p.His2800=)
NM_001377.3(DYNC2H1):c.8454+11C>T
NM_001377.3(DYNC2H1):c.8455-18A>G
NM_001377.3(DYNC2H1):c.8455-19T>C
NM_001377.3(DYNC2H1):c.8481A>T (p.Thr2827=)
NM_001377.3(DYNC2H1):c.8490A>C (p.Gly2830=)
NM_001377.3(DYNC2H1):c.8499C>T (p.Tyr2833=)
NM_001377.3(DYNC2H1):c.8505T>C (p.Asp2835=)
NM_001377.3(DYNC2H1):c.8539+20A>T
NM_001377.3(DYNC2H1):c.8539+8T>C
NM_001377.3(DYNC2H1):c.8539+9T>C
NM_001377.3(DYNC2H1):c.8540-12A>G
NM_001377.3(DYNC2H1):c.8540-14C>T
NM_001377.3(DYNC2H1):c.8540-4C>G
NM_001377.3(DYNC2H1):c.8540-4C>T
NM_001377.3(DYNC2H1):c.8540-4del rs1229021642
NM_001377.3(DYNC2H1):c.8559A>G (p.Lys2853=)
NM_001377.3(DYNC2H1):c.8562A>G (p.Ser2854=)
NM_001377.3(DYNC2H1):c.8580A>T (p.Glu2860Asp)
NM_001377.3(DYNC2H1):c.8616C>T (p.Tyr2872=)
NM_001377.3(DYNC2H1):c.8622C>A (p.Thr2874=)
NM_001377.3(DYNC2H1):c.8668T>C (p.Leu2890=)
NM_001377.3(DYNC2H1):c.8673A>G (p.Leu2891=)
NM_001377.3(DYNC2H1):c.8688T>C (p.His2896=)
NM_001377.3(DYNC2H1):c.8694+12G>T
NM_001377.3(DYNC2H1):c.8694+15del
NM_001377.3(DYNC2H1):c.8694+19T>C
NM_001377.3(DYNC2H1):c.8694+20G>T
NM_001377.3(DYNC2H1):c.8695-10A>G
NM_001377.3(DYNC2H1):c.8695-15A>G
NM_001377.3(DYNC2H1):c.8695-15del
NM_001377.3(DYNC2H1):c.8695-5T>C
NM_001377.3(DYNC2H1):c.8695-6A>G
NM_001377.3(DYNC2H1):c.8697T>G (p.Ala2899=)
NM_001377.3(DYNC2H1):c.870T>C (p.Ile290=)
NM_001377.3(DYNC2H1):c.8710C>T (p.Leu2904=)
NM_001377.3(DYNC2H1):c.8745C>T (p.Asn2915=)
NM_001377.3(DYNC2H1):c.8748A>G (p.Arg2916=)
NM_001377.3(DYNC2H1):c.8772A>G (p.Leu2924=)
NM_001377.3(DYNC2H1):c.8781G>A (p.Thr2927=)
NM_001377.3(DYNC2H1):c.8787A>G (p.Gln2929=)
NM_001377.3(DYNC2H1):c.8796A>C (p.Ala2932=)
NM_001377.3(DYNC2H1):c.879G>A (p.Gln293=)
NM_001377.3(DYNC2H1):c.8805C>A (p.Ala2935=)
NM_001377.3(DYNC2H1):c.8811A>G (p.Gln2937=)
NM_001377.3(DYNC2H1):c.8820A>G (p.Thr2940=)
NM_001377.3(DYNC2H1):c.8826A>G (p.Ser2942=)
NM_001377.3(DYNC2H1):c.8832+10A>G
NM_001377.3(DYNC2H1):c.8832+17C>T
NM_001377.3(DYNC2H1):c.8832+18C>G
NM_001377.3(DYNC2H1):c.8833-10A>G
NM_001377.3(DYNC2H1):c.8833-13A>C
NM_001377.3(DYNC2H1):c.8833-18A>G
NM_001377.3(DYNC2H1):c.8833-20C>G rs2135147432
NM_001377.3(DYNC2H1):c.8844G>A (p.Glu2948=)
NM_001377.3(DYNC2H1):c.8874C>T (p.His2958=)
NM_001377.3(DYNC2H1):c.8886A>G (p.Glu2962=)
NM_001377.3(DYNC2H1):c.8946+17T>C
NM_001377.3(DYNC2H1):c.8946+17T>G
NM_001377.3(DYNC2H1):c.8947-15C>T
NM_001377.3(DYNC2H1):c.8947-17G>A
NM_001377.3(DYNC2H1):c.8947-17G>T
NM_001377.3(DYNC2H1):c.8947-4T>C
NM_001377.3(DYNC2H1):c.8947-9C>A
NM_001377.3(DYNC2H1):c.8968C>T (p.Leu2990=)
NM_001377.3(DYNC2H1):c.8991C>G (p.Pro2997=)
NM_001377.3(DYNC2H1):c.8997A>G (p.Ser2999=)
NM_001377.3(DYNC2H1):c.9016C>T (p.Leu3006=)
NM_001377.3(DYNC2H1):c.9033T>C (p.Asp3011=)
NM_001377.3(DYNC2H1):c.9045T>C (p.Asp3015=)
NM_001377.3(DYNC2H1):c.9051T>C (p.Leu3017=)
NM_001377.3(DYNC2H1):c.9066G>A (p.Arg3022=)
NM_001377.3(DYNC2H1):c.9078C>T (p.Ile3026=)
NM_001377.3(DYNC2H1):c.9107+15T>C
NM_001377.3(DYNC2H1):c.9107+19G>A
NM_001377.3(DYNC2H1):c.9147C>T (p.Thr3049=)
NM_001377.3(DYNC2H1):c.9168A>C (p.Ser3056=)
NM_001377.3(DYNC2H1):c.9171G>A (p.Lys3057=)
NM_001377.3(DYNC2H1):c.9186T>C (p.Ser3062=)
NM_001377.3(DYNC2H1):c.9192A>G (p.Glu3064=)
NM_001377.3(DYNC2H1):c.9213A>G (p.Lys3071=)
NM_001377.3(DYNC2H1):c.9231+11A>G
NM_001377.3(DYNC2H1):c.9231+15A>G
NM_001377.3(DYNC2H1):c.9231+16T>C
NM_001377.3(DYNC2H1):c.9231+17A>G
NM_001377.3(DYNC2H1):c.9231+20A>G
NM_001377.3(DYNC2H1):c.9232-13A>G
NM_001377.3(DYNC2H1):c.9232-16C>T
NM_001377.3(DYNC2H1):c.9240G>A (p.Lys3080=)
NM_001377.3(DYNC2H1):c.9264T>G (p.Pro3088=)
NM_001377.3(DYNC2H1):c.9273C>T (p.Ala3091=)
NM_001377.3(DYNC2H1):c.9279G>A (p.Val3093=)
NM_001377.3(DYNC2H1):c.9303T>C (p.His3101=)
NM_001377.3(DYNC2H1):c.9307T>C (p.Leu3103=)
NM_001377.3(DYNC2H1):c.930T>C (p.Val310=)
NM_001377.3(DYNC2H1):c.9324T>G (p.Pro3108=)
NM_001377.3(DYNC2H1):c.9339G>A (p.Gln3113=)
NM_001377.3(DYNC2H1):c.933T>G (p.Pro311=)
NM_001377.3(DYNC2H1):c.9345A>T (p.Gly3115=)
NM_001377.3(DYNC2H1):c.9353+12A>G
NM_001377.3(DYNC2H1):c.9354-4T>G
NM_001377.3(DYNC2H1):c.9354-7A>G
NM_001377.3(DYNC2H1):c.936T>C (p.His312=)
NM_001377.3(DYNC2H1):c.9378A>G (p.Arg3126=)
NM_001377.3(DYNC2H1):c.9387A>G (p.Lys3129=)
NM_001377.3(DYNC2H1):c.9393G>A (p.Glu3131=)
NM_001377.3(DYNC2H1):c.9440+10A>G
NM_001377.3(DYNC2H1):c.9440+13T>A
NM_001377.3(DYNC2H1):c.9440+9T>A
NM_001377.3(DYNC2H1):c.9441-17T>C
NM_001377.3(DYNC2H1):c.9441-5C>T
NM_001377.3(DYNC2H1):c.9465T>G (p.Ala3155=)
NM_001377.3(DYNC2H1):c.9468C>A (p.Ala3156=)
NM_001377.3(DYNC2H1):c.9495A>G (p.Ala3165=)
NM_001377.3(DYNC2H1):c.951A>G (p.Glu317=)
NM_001377.3(DYNC2H1):c.9534G>A (p.Gln3178=)
NM_001377.3(DYNC2H1):c.9552G>A (p.Lys3184=)
NM_001377.3(DYNC2H1):c.9564A>G (p.Ala3188=)
NM_001377.3(DYNC2H1):c.9564A>T (p.Ala3188=)
NM_001377.3(DYNC2H1):c.9567+13G>C
NM_001377.3(DYNC2H1):c.9567+18G>A
NM_001377.3(DYNC2H1):c.9567+20C>T
NM_001377.3(DYNC2H1):c.9568-11C>T
NM_001377.3(DYNC2H1):c.9568-14T>C
NM_001377.3(DYNC2H1):c.9568-15C>T
NM_001377.3(DYNC2H1):c.9568-16T>C
NM_001377.3(DYNC2H1):c.9568-17C>T
NM_001377.3(DYNC2H1):c.9568-18TC[2]
NM_001377.3(DYNC2H1):c.9568-4C>G
NM_001377.3(DYNC2H1):c.9568-6T>G
NM_001377.3(DYNC2H1):c.9600T>C (p.Leu3200=)
NM_001377.3(DYNC2H1):c.9624T>C (p.Ala3208=)
NM_001377.3(DYNC2H1):c.9636A>G (p.Thr3212=)
NM_001377.3(DYNC2H1):c.963A>T (p.Pro321=) rs771975812
NM_001377.3(DYNC2H1):c.9681A>G (p.Glu3227=)
NM_001377.3(DYNC2H1):c.9690C>G (p.Thr3230=)
NM_001377.3(DYNC2H1):c.9702T>C (p.Gly3234=)
NM_001377.3(DYNC2H1):c.9709+9T>C
NM_001377.3(DYNC2H1):c.9710-12T>C
NM_001377.3(DYNC2H1):c.9710-19A>G
NM_001377.3(DYNC2H1):c.9738T>C (p.Thr3246=)
NM_001377.3(DYNC2H1):c.9747G>A (p.Glu3249=)
NM_001377.3(DYNC2H1):c.9753A>G (p.Leu3251=)
NM_001377.3(DYNC2H1):c.9762A>G (p.Lys3254=)
NM_001377.3(DYNC2H1):c.9777A>G (p.Pro3259=)
NM_001377.3(DYNC2H1):c.9801T>C (p.Asn3267=)
NM_001377.3(DYNC2H1):c.9819+13_9819+17del
NM_001377.3(DYNC2H1):c.9819+18A>G
NM_001377.3(DYNC2H1):c.9819+18A>T
NM_001377.3(DYNC2H1):c.9819+19T>A
NM_001377.3(DYNC2H1):c.9819+20T>C
NM_001377.3(DYNC2H1):c.9820-2129A>T
NM_001377.3(DYNC2H1):c.9820-2134T>G
NM_001377.3(DYNC2H1):c.9820-2138C>G
NM_001377.3(DYNC2H1):c.9820-2170T>C
NM_001377.3(DYNC2H1):c.9820-2174T>G
NM_001377.3(DYNC2H1):c.9820-2175C>T
NM_001377.3(DYNC2H1):c.9820-2179T>G
NM_001377.3(DYNC2H1):c.9820-5A>T
NM_001377.3(DYNC2H1):c.9820-7A>G
NM_001377.3(DYNC2H1):c.9820-7dup
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9864A>G (p.Thr3288=)
NM_001377.3(DYNC2H1):c.9867G>A (p.Glu3289=)
NM_001377.3(DYNC2H1):c.987A>G (p.Lys329=)
NM_001377.3(DYNC2H1):c.9888A>G (p.Lys3296=)
NM_001377.3(DYNC2H1):c.9912T>C (p.Asn3304=)
NM_001377.3(DYNC2H1):c.9915G>A (p.Gln3305=)
NM_001377.3(DYNC2H1):c.9918+10_9918+12del
NM_001377.3(DYNC2H1):c.9918+7A>G
NM_001377.3(DYNC2H1):c.9919-10A>G
NM_001377.3(DYNC2H1):c.9919-12T>C
NM_001377.3(DYNC2H1):c.9919-17del
NM_001377.3(DYNC2H1):c.9919-18T>C
NM_001377.3(DYNC2H1):c.9919-5A>T
NM_001377.3(DYNC2H1):c.9919-7C>T
NM_001377.3(DYNC2H1):c.9933C>T (p.Ile3311=)
NM_001377.3(DYNC2H1):c.993T>A (p.Leu331=)
NM_001377.3(DYNC2H1):c.993T>G (p.Leu331=)
NM_001377.3(DYNC2H1):c.9942T>C (p.Leu3314=)
NM_001377.3(DYNC2H1):c.9957T>A (p.Arg3319=)
NM_001377.3(DYNC2H1):c.9963G>A (p.Gly3321=)
NM_001377.3(DYNC2H1):c.9978A>C (p.Ile3326=)
NM_001377.3(DYNC2H1):c.9978A>T (p.Ile3326=)
NM_001377.3(DYNC2H1):c.999+12A>T
NM_001377.3(DYNC2H1):c.999+19A>C
NM_001377.3(DYNC2H1):c.999+8T>C
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001378454.1(ALMS1):c.10029T>C (p.Thr3343=) rs780076628
NM_001378454.1(ALMS1):c.10029T>G (p.Thr3343=)
NM_001378454.1(ALMS1):c.10038C>G (p.Ser3346=)
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=) rs1674405055
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=) rs1374824703
NM_001378454.1(ALMS1):c.10056A>G (p.Lys3352=)
NM_001378454.1(ALMS1):c.10078+18G>C rs1485299415
NM_001378454.1(ALMS1):c.10078+18del
NM_001378454.1(ALMS1):c.10078+20A>G
NM_001378454.1(ALMS1):c.10078+7G>A rs2104035384
NM_001378454.1(ALMS1):c.10078+9A>C
NM_001378454.1(ALMS1):c.10079-10_10079-9dup
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-12T>C
NM_001378454.1(ALMS1):c.10079-14T>C
NM_001378454.1(ALMS1):c.10079-15A>T
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10079-5del rs2104057739
NM_001378454.1(ALMS1):c.10079-7A>T
NM_001378454.1(ALMS1):c.10083C>T (p.Ala3361=)
NM_001378454.1(ALMS1):c.10089T>C (p.Val3363=) rs2104057828
NM_001378454.1(ALMS1):c.10131A>G (p.Lys3377=)
NM_001378454.1(ALMS1):c.10152A>G (p.Thr3384=)
NM_001378454.1(ALMS1):c.10155G>A (p.Arg3385=)
NM_001378454.1(ALMS1):c.10158A>G (p.Ala3386=)
NM_001378454.1(ALMS1):c.10176G>A (p.Gln3392=) rs1674567633
NM_001378454.1(ALMS1):c.1017T>C (p.Tyr339=) rs915566618
NM_001378454.1(ALMS1):c.10185A>G (p.Glu3395=)
NM_001378454.1(ALMS1):c.10188A>G (p.Lys3396=)
NM_001378454.1(ALMS1):c.10191A>G (p.Glu3397=)
NM_001378454.1(ALMS1):c.10194T>G (p.Ser3398=) rs2104058358
NM_001378454.1(ALMS1):c.10195T>C (p.Leu3399=)
NM_001378454.1(ALMS1):c.10197G>A (p.Leu3399=) rs2104058378
NM_001378454.1(ALMS1):c.10200G>A (p.Gln3400=) rs2104058403
NM_001378454.1(ALMS1):c.1020T>C (p.Asp340=)
NM_001378454.1(ALMS1):c.10213+15T>C
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.10213+17G>T
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10214-14T>C
NM_001378454.1(ALMS1):c.10214-16A>G
NM_001378454.1(ALMS1):c.10214-20T>G
NM_001378454.1(ALMS1):c.10214-4G>C
NM_001378454.1(ALMS1):c.10214-5C>G
NM_001378454.1(ALMS1):c.10214-6_10214-5delinsGT rs2104063507
NM_001378454.1(ALMS1):c.10236A>C (p.Ala3412=) rs1173455677
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala) rs750493624
NM_001378454.1(ALMS1):c.102G>A (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.10305A>G (p.Lys3435=)
NM_001378454.1(ALMS1):c.10311G>A (p.Glu3437=)
NM_001378454.1(ALMS1):c.10314C>A (p.Ile3438=)
NM_001378454.1(ALMS1):c.10314C>T (p.Ile3438=)
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=) rs948843150
NM_001378454.1(ALMS1):c.10329A>G (p.Thr3443=)
NM_001378454.1(ALMS1):c.1032A>T (p.Ser344=) rs376519124
NM_001378454.1(ALMS1):c.10332T>C (p.Val3444=)
NM_001378454.1(ALMS1):c.10335C>G (p.Pro3445=)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=) rs762161593
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10384+10T>C
NM_001378454.1(ALMS1):c.10384+13G>C
NM_001378454.1(ALMS1):c.10384+14G>A
NM_001378454.1(ALMS1):c.10384+19G>A
NM_001378454.1(ALMS1):c.10384+9A>G
NM_001378454.1(ALMS1):c.10384+9A>T
NM_001378454.1(ALMS1):c.10385-16T>C rs1396255385
NM_001378454.1(ALMS1):c.10385-17T>C
NM_001378454.1(ALMS1):c.10385-7T>A rs1298945759
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10386G>A (p.Glu3462=) rs773637244
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=) rs1451268706
NM_001378454.1(ALMS1):c.10413T>C (p.Asn3471=)
NM_001378454.1(ALMS1):c.10416T>C (p.Thr3472=)
NM_001378454.1(ALMS1):c.1041A>C (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>T (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10425T>G (p.Ser3475=)
NM_001378454.1(ALMS1):c.10461C>A (p.Pro3487=)
NM_001378454.1(ALMS1):c.10464A>C (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10468C>T (p.Leu3490=)
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=) rs2104103821
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=) rs574271805
NM_001378454.1(ALMS1):c.10482A>G (p.Gln3494=) rs2104103900
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=) rs776784912
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=) rs1438143250
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=) rs2103715526
NM_001378454.1(ALMS1):c.10539T>C (p.Asp3513=)
NM_001378454.1(ALMS1):c.10554T>C (p.His3518=) rs1005737478
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=) rs778554206
NM_001378454.1(ALMS1):c.10569A>G (p.Arg3523=)
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
NM_001378454.1(ALMS1):c.10608C>T (p.Asp3536=) rs765108975
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=) rs2104104435
NM_001378454.1(ALMS1):c.10629C>G (p.Thr3543=)
NM_001378454.1(ALMS1):c.10632A>G (p.Arg3544=)
NM_001378454.1(ALMS1):c.10641C>T (p.Ser3547=) rs893243465
NM_001378454.1(ALMS1):c.10644C>G (p.Leu3548=) rs1180701508
NM_001378454.1(ALMS1):c.10656G>A (p.Val3552=) rs2104104616
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=) rs2103715566
NM_001378454.1(ALMS1):c.10660T>C (p.Leu3554=)
NM_001378454.1(ALMS1):c.10665A>C (p.Gly3555=) rs1674958752
NM_001378454.1(ALMS1):c.10677G>A (p.Val3559=)
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=) rs1357578376
NM_001378454.1(ALMS1):c.10701T>C (p.Val3567=) rs2104104788
NM_001378454.1(ALMS1):c.10716A>G (p.Lys3572=) rs2104104864
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=) rs771156823
NM_001378454.1(ALMS1):c.10728A>G (p.Gln3576=)
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10743A>G (p.Gln3581=)
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10776T>G (p.Thr3592=) rs2104105106
NM_001378454.1(ALMS1):c.10788G>A (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=) rs2104105156
NM_001378454.1(ALMS1):c.10797T>C (p.Asn3599=) rs2104105164
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=) rs878948308
NM_001378454.1(ALMS1):c.10815T>C (p.Tyr3605=)
NM_001378454.1(ALMS1):c.10824A>C (p.Arg3608=) rs2104105247
NM_001378454.1(ALMS1):c.10824A>T (p.Arg3608=)
NM_001378454.1(ALMS1):c.10827G>A (p.Gln3609=) rs2104105279
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=) rs1273406580
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=) rs780187704
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10863A>G (p.Lys3621=)
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.10872C>T (p.Ser3624=) rs963421553
NM_001378454.1(ALMS1):c.10873T>C (p.Leu3625=) rs762668289
NM_001378454.1(ALMS1):c.10875G>A (p.Leu3625=)
NM_001378454.1(ALMS1):c.108C>T (p.Asn36=)
NM_001378454.1(ALMS1):c.10914T>C (p.Asn3638=) rs2104105713
NM_001378454.1(ALMS1):c.10923A>C (p.Thr3641=)
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=) rs879223990
NM_001378454.1(ALMS1):c.10929T>C (p.Ser3643=) rs1674966983
NM_001378454.1(ALMS1):c.1092A>G (p.Lys364=)
NM_001378454.1(ALMS1):c.10932C>A (p.Leu3644=)
NM_001378454.1(ALMS1):c.10938C>T (p.Val3646=)
NM_001378454.1(ALMS1):c.10950A>G (p.Thr3650=)
NM_001378454.1(ALMS1):c.10953T>C (p.His3651=) rs1482258922
NM_001378454.1(ALMS1):c.10971A>G (p.Glu3657=) rs868321585
NM_001378454.1(ALMS1):c.10986A>G (p.Glu3662=) rs779961618
NM_001378454.1(ALMS1):c.10995T>C (p.Gly3665=)
NM_001378454.1(ALMS1):c.11001A>G (p.Gln3667=)
NM_001378454.1(ALMS1):c.1101T>G (p.Val367=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=) rs2104106238
NM_001378454.1(ALMS1):c.11031G>A (p.Lys3677=)
NM_001378454.1(ALMS1):c.11034G>A (p.Arg3678=)
NM_001378454.1(ALMS1):c.11070C>A (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11076T>G (p.Leu3692=) rs2104106428
NM_001378454.1(ALMS1):c.1107T>G (p.Val369=) rs2103715721
NM_001378454.1(ALMS1):c.11091G>T (p.Val3697=)
NM_001378454.1(ALMS1):c.11106A>G (p.Arg3702=)
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=) rs2104106588
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=) rs1430075527
NM_001378454.1(ALMS1):c.1113T>C (p.Thr371=)
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=) rs1573030809
NM_001378454.1(ALMS1):c.11151T>C (p.Asp3717=)
NM_001378454.1(ALMS1):c.11154A>G (p.Lys3718=) rs2104106732
NM_001378454.1(ALMS1):c.11169A>G (p.Lys3723=) rs2104106786
NM_001378454.1(ALMS1):c.11172G>A (p.Gln3724=)
NM_001378454.1(ALMS1):c.11175A>C (p.Pro3725=) rs1289897917
NM_001378454.1(ALMS1):c.11187T>C (p.Tyr3729=) rs2104106849
NM_001378454.1(ALMS1):c.11193C>T (p.Ser3731=) rs374895214
NM_001378454.1(ALMS1):c.111G>T (p.Val37=) rs1394882288
NM_001378454.1(ALMS1):c.11214G>A (p.Arg3738=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=) rs2104107028
NM_001378454.1(ALMS1):c.11217C>G (p.Pro3739=)
NM_001378454.1(ALMS1):c.11233C>T (p.Leu3745=)
NM_001378454.1(ALMS1):c.11253C>A (p.Thr3751=)
NM_001378454.1(ALMS1):c.11253C>G (p.Thr3751=)
NM_001378454.1(ALMS1):c.11271C>G (p.Thr3757=) rs2104107258
NM_001378454.1(ALMS1):c.11271C>T (p.Thr3757=)
NM_001378454.1(ALMS1):c.11280T>C (p.Thr3760=) rs2104107302
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=) rs887851505
NM_001378454.1(ALMS1):c.11296T>C (p.Leu3766=)
NM_001378454.1(ALMS1):c.11301C>A (p.Thr3767=) rs2104107409
NM_001378454.1(ALMS1):c.11304A>G (p.Gln3768=)
NM_001378454.1(ALMS1):c.11307A>G (p.Thr3769=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=) rs2104107524
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11325G>C (p.Leu3775=) rs1573031104
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=) rs1674981904
NM_001378454.1(ALMS1):c.11343T>C (p.Ser3781=)
NM_001378454.1(ALMS1):c.11349C>A (p.Ser3783=) rs2104107710
NM_001378454.1(ALMS1):c.1134A>G (p.Glu378=)
NM_001378454.1(ALMS1):c.11358C>T (p.Asp3786=) rs1429287634
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=) rs1389971461
NM_001378454.1(ALMS1):c.11376A>G (p.Gln3792=)
NM_001378454.1(ALMS1):c.11394A>G (p.Arg3798=)
NM_001378454.1(ALMS1):c.11413C>A (p.Arg3805=) rs376091780
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=) rs2104108089
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=) rs1352073449
NM_001378454.1(ALMS1):c.114C>T (p.Asp38=)
NM_001378454.1(ALMS1):c.11508C>G (p.Pro3836=) rs2104108491
NM_001378454.1(ALMS1):c.11511A>C (p.Leu3837=)
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=) rs2104108533
NM_001378454.1(ALMS1):c.11517T>C (p.Thr3839=)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=) rs1490288131
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+15A>G
NM_001378454.1(ALMS1):c.11547+15A>T
NM_001378454.1(ALMS1):c.11547+17_11547+21del rs2104108719
NM_001378454.1(ALMS1):c.11547+18C>A
NM_001378454.1(ALMS1):c.11547+18C>G rs778165277
NM_001378454.1(ALMS1):c.11547+7G>A rs1553418641
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-15C>A
NM_001378454.1(ALMS1):c.11548-19A>G
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11548-20G>C
NM_001378454.1(ALMS1):c.11556C>T (p.Asn3852=)
NM_001378454.1(ALMS1):c.11559T>C (p.His3853=)
NM_001378454.1(ALMS1):c.1155T>C (p.Ser385=)
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=) rs2104188842
NM_001378454.1(ALMS1):c.11589T>C (p.Ser3863=) rs2104188850
NM_001378454.1(ALMS1):c.11595T>C (p.Ser3865=) rs2104188901
NM_001378454.1(ALMS1):c.11610A>C (p.Ser3870=)
NM_001378454.1(ALMS1):c.11628C>T (p.Asn3876=)
NM_001378454.1(ALMS1):c.11634G>A (p.Gln3878=)
NM_001378454.1(ALMS1):c.11668+12A>C
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11668+13A>G
NM_001378454.1(ALMS1):c.11668+18A>T
NM_001378454.1(ALMS1):c.11669-11C>T
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-7C>T rs548573570
NM_001378454.1(ALMS1):c.11673C>T (p.Asn3891=)
NM_001378454.1(ALMS1):c.11676G>A (p.Leu3892=) rs2104193095
NM_001378454.1(ALMS1):c.11679G>A (p.Glu3893=)
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=) rs773812568
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=) rs2104193292
NM_001378454.1(ALMS1):c.1170T>C (p.Ala390=) rs2103715989
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11724T>C (p.Thr3908=) rs1675661068
NM_001378454.1(ALMS1):c.11730A>G (p.Pro3910=)
NM_001378454.1(ALMS1):c.11733T>A (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11760A>G (p.Glu3920=)
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.11778T>G (p.Thr3926=)
NM_001378454.1(ALMS1):c.11787A>T (p.Ser3929=) rs1675665477
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=) rs2104193744
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=) rs2104058310
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11823T>C (p.Gly3941=)
NM_001378454.1(ALMS1):c.11835C>T (p.Asp3945=)
NM_001378454.1(ALMS1):c.11850G>A (p.Lys3950=)
NM_001378454.1(ALMS1):c.11853C>T (p.Asn3951=)
NM_001378454.1(ALMS1):c.11865C>T (p.Ser3955=)
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+17A>G
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.11873-10T>A rs1022167078
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-12_11873-11inv
NM_001378454.1(ALMS1):c.11873-18A>G
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.11877T>C (p.Val3959=) rs538785825
NM_001378454.1(ALMS1):c.11889T>G (p.Val3963=)
NM_001378454.1(ALMS1):c.11901T>C (p.Asn3967=)
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=) rs2104195553
NM_001378454.1(ALMS1):c.1191T>C (p.Tyr397=)
NM_001378454.1(ALMS1):c.11934T>C (p.Pro3978=) rs748382663
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11940T>G (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11952C>A (p.Gly3984=)
NM_001378454.1(ALMS1):c.11955C>T (p.Ile3985=) rs2104195791
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=) rs1292184685
NM_001378454.1(ALMS1):c.11970A>G (p.Pro3990=)
NM_001378454.1(ALMS1):c.11976C>G (p.Thr3992=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=) rs28730862
NM_001378454.1(ALMS1):c.12000A>G (p.Pro4000=) rs2104196057
NM_001378454.1(ALMS1):c.12006G>A (p.Arg4002=) rs1573054242
NM_001378454.1(ALMS1):c.1200G>A (p.Gln400=)
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=) rs1675682314
NM_001378454.1(ALMS1):c.12042G>A (p.Arg4014=) rs1320090019
NM_001378454.1(ALMS1):c.12045C>A (p.Gly4015=) rs1675682957
NM_001378454.1(ALMS1):c.12045C>T (p.Gly4015=)
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=) rs2104196274
NM_001378454.1(ALMS1):c.12051G>T (p.Leu4017=)
NM_001378454.1(ALMS1):c.12057C>T (p.Gly4019=)
NM_001378454.1(ALMS1):c.12063C>A (p.Gly4021=) rs772994859
NM_001378454.1(ALMS1):c.12084A>G (p.Leu4028=) rs1429155585
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=) rs2104196487
NM_001378454.1(ALMS1):c.12089_12090delinsAA (p.Arg4030Lys)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=) rs2103716197
NM_001378454.1(ALMS1):c.120A>T (p.Val40=)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=) rs2104196632
NM_001378454.1(ALMS1):c.12108C>T (p.Thr4036=)
NM_001378454.1(ALMS1):c.12111T>G (p.Leu4037=)
NM_001378454.1(ALMS1):c.12114+10C>G
NM_001378454.1(ALMS1):c.12114+10C>T
NM_001378454.1(ALMS1):c.12114+14G>C
NM_001378454.1(ALMS1):c.12114+14G>T rs1057524070
NM_001378454.1(ALMS1):c.12114+17T>C rs1675686732
NM_001378454.1(ALMS1):c.12114+19A>G rs760374917
NM_001378454.1(ALMS1):c.12114+19A>T rs760374917
NM_001378454.1(ALMS1):c.12114+19_12114+23dup
NM_001378454.1(ALMS1):c.12114+20A>G rs1178865207
NM_001378454.1(ALMS1):c.12114+20del
NM_001378454.1(ALMS1):c.12114+5_12114+66dup rs1558711954
NM_001378454.1(ALMS1):c.12115-13T>A
NM_001378454.1(ALMS1):c.12115-15T>C
NM_001378454.1(ALMS1):c.12115-17T>A
NM_001378454.1(ALMS1):c.12115-17_12115-16insCTCTCTCTCTTTT
NM_001378454.1(ALMS1):c.12115-18C>T
NM_001378454.1(ALMS1):c.12115-18_12115-17del rs781270096
NM_001378454.1(ALMS1):c.12115-4T>A rs2104199349
NM_001378454.1(ALMS1):c.12115-4T>G
NM_001378454.1(ALMS1):c.12115-5T>C
NM_001378454.1(ALMS1):c.12115-7C>T rs759139781
NM_001378454.1(ALMS1):c.12115-8dup rs748193431
NM_001378454.1(ALMS1):c.12115-9T>C
NM_001378454.1(ALMS1):c.12120G>C (p.Ser4040=)
NM_001378454.1(ALMS1):c.12144C>T (p.Phe4048=) rs2104199469
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=) rs1573055527
NM_001378454.1(ALMS1):c.12183A>G (p.Leu4061=) rs2104199708
NM_001378454.1(ALMS1):c.12204G>A (p.Leu4068=)
NM_001378454.1(ALMS1):c.12222C>A (p.Thr4074=) rs199638718
NM_001378454.1(ALMS1):c.12225G>A (p.Glu4075=)
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12264C>A (p.Gly4088=)
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.1227A>G (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12288G>A (p.Leu4096=) rs1266824471
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=) rs1465822932
NM_001378454.1(ALMS1):c.12298+10G>A rs767356429
NM_001378454.1(ALMS1):c.12298+10G>T rs767356429
NM_001378454.1(ALMS1):c.12298+11C>T rs2104200410
NM_001378454.1(ALMS1):c.12298+13del
NM_001378454.1(ALMS1):c.12298+19C>T rs1553421935
NM_001378454.1(ALMS1):c.12298+22del
NM_001378454.1(ALMS1):c.12298+8C>G rs2104200394
NM_001378454.1(ALMS1):c.12298+8C>T
NM_001378454.1(ALMS1):c.12299-11C>G
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-18C>T
NM_001378454.1(ALMS1):c.12299-4C>T
NM_001378454.1(ALMS1):c.12300C>G (p.Val4100=)
NM_001378454.1(ALMS1):c.12303C>T (p.Phe4101=)
NM_001378454.1(ALMS1):c.12306G>C (p.Leu4102=) rs2104202740
NM_001378454.1(ALMS1):c.1230T>C (p.Tyr410=)
NM_001378454.1(ALMS1):c.12318G>A (p.Lys4106=)
NM_001378454.1(ALMS1):c.12324G>A (p.Lys4108=)
NM_001378454.1(ALMS1):c.12339G>A (p.Lys4113=) rs2104202897
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12362+20A>T
NM_001378454.1(ALMS1):c.12363-11C>G
NM_001378454.1(ALMS1):c.12363-20T>C
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+10C>T
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+16C>G
NM_001378454.1(ALMS1):c.1237+18T>G
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.1238-12C>G
NM_001378454.1(ALMS1):c.1238-16G>A
NM_001378454.1(ALMS1):c.1238-17T>C
NM_001378454.1(ALMS1):c.1238-4G>A
NM_001378454.1(ALMS1):c.1238-5T>C rs1671380405
NM_001378454.1(ALMS1):c.12387A>G (p.Val4129=)
NM_001378454.1(ALMS1):c.12396G>A (p.Lys4132=)
NM_001378454.1(ALMS1):c.123G>C (p.Val41=)
NM_001378454.1(ALMS1):c.123G>T (p.Val41=)
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=) rs1675868945
NM_001378454.1(ALMS1):c.12417A>G (p.Lys4139=) rs377361240
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=) rs2104216319
NM_001378454.1(ALMS1):c.1243C>T (p.Leu415=) rs1388334173
NM_001378454.1(ALMS1):c.12441G>A (p.Leu4147=)
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=) rs1553400953
NM_001378454.1(ALMS1):c.12462+12C>T rs1553422680
NM_001378454.1(ALMS1):c.12462+12_12462+18del rs1374364094
NM_001378454.1(ALMS1):c.12462+13T>G
NM_001378454.1(ALMS1):c.12462+14C>T rs2104216544
NM_001378454.1(ALMS1):c.12462+18C>T
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12462+20A>G
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11T>A
NM_001378454.1(ALMS1):c.12463-11T>G
NM_001378454.1(ALMS1):c.12463-16T>G
NM_001378454.1(ALMS1):c.12463-20G>A
NM_001378454.1(ALMS1):c.12463-20G>C
NM_001378454.1(ALMS1):c.12463-5T>C rs2104219383
NM_001378454.1(ALMS1):c.12463-7T>C
NM_001378454.1(ALMS1):c.12463-9C>A
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.12465A>G (p.Arg4155=)
NM_001378454.1(ALMS1):c.12498C>T (p.Pro4166=)
NM_001378454.1(ALMS1):c.1251G>A (p.Gly417=)
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=) rs1396189205
NM_001378454.1(ALMS1):c.126C>A (p.Val42=) rs766762252
NM_001378454.1(ALMS1):c.126C>G (p.Val42=)
NM_001378454.1(ALMS1):c.1275T>C (p.Thr425=) rs2103720411
NM_001378454.1(ALMS1):c.1276C>T (p.Leu426=) rs2103720416
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=) rs1671382711
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>A rs1466354765
NM_001378454.1(ALMS1):c.1338+20T>C
NM_001378454.1(ALMS1):c.1338+7C>G
NM_001378454.1(ALMS1):c.1338+8A>G rs2103720635
NM_001378454.1(ALMS1):c.1339-12G>C rs1260375872
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1350G>A (p.Glu450=)
NM_001378454.1(ALMS1):c.135G>A (p.Glu45=) rs765418565
NM_001378454.1(ALMS1):c.1365T>C (p.Ser455=)
NM_001378454.1(ALMS1):c.1371T>C (p.Asp457=)
NM_001378454.1(ALMS1):c.1384A>C (p.Arg462=)
NM_001378454.1(ALMS1):c.138G>A (p.Val46=)
NM_001378454.1(ALMS1):c.1392T>C (p.Ser464=)
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=) rs2103734489
NM_001378454.1(ALMS1):c.1398C>T (p.Asp466=)
NM_001378454.1(ALMS1):c.1401T>C (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1401T>G (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1404G>A (p.Val468=)
NM_001378454.1(ALMS1):c.1432+11A>G rs947794687
NM_001378454.1(ALMS1):c.1432+12A>G rs1553401640
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+14G>C
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+18A>G
NM_001378454.1(ALMS1):c.1432+19T>C
NM_001378454.1(ALMS1):c.1433-10T>C
NM_001378454.1(ALMS1):c.1433-8_1433-7del rs2103770966
NM_001378454.1(ALMS1):c.1440T>C (p.Thr480=) rs2103771035
NM_001378454.1(ALMS1):c.1455A>T (p.Ile485=)
NM_001378454.1(ALMS1):c.1464T>G (p.Val488=) rs2103771151
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=) rs2103771196
NM_001378454.1(ALMS1):c.1485A>G (p.Ser495=)
NM_001378454.1(ALMS1):c.1494T>C (p.Thr498=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=) rs2103771265
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=) rs757262099
NM_001378454.1(ALMS1):c.1518T>C (p.Ile506=)
NM_001378454.1(ALMS1):c.1545G>A (p.Glu515=)
NM_001378454.1(ALMS1):c.1548C>T (p.Asp516=) rs202002052
NM_001378454.1(ALMS1):c.1576C>T (p.Leu526=) rs2103170396
NM_001378454.1(ALMS1):c.1584T>C (p.Thr528=) rs2103771543
NM_001378454.1(ALMS1):c.1599C>T (p.His533=) rs2103771566
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=) rs757654976
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=) rs893593330
NM_001378454.1(ALMS1):c.1632T>C (p.Asp544=) rs2103771689
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=) rs1200801072
NM_001378454.1(ALMS1):c.1659A>G (p.Lys553=) rs2103771780
NM_001378454.1(ALMS1):c.165C>T (p.Asp55=)
NM_001378454.1(ALMS1):c.1671T>C (p.Ile557=) rs2103771826
NM_001378454.1(ALMS1):c.1674T>C (p.Pro558=)
NM_001378454.1(ALMS1):c.16C>T (p.Leu6=) rs2104056226
NM_001378454.1(ALMS1):c.1704A>G (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.1713C>T (p.Leu571=)
NM_001378454.1(ALMS1):c.1722C>A (p.Ser574=)
NM_001378454.1(ALMS1):c.1725C>T (p.His575=)
NM_001378454.1(ALMS1):c.1737G>A (p.Gly579=) rs1294566237
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=) rs2103772066
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=) rs1671847592
NM_001378454.1(ALMS1):c.174T>C (p.Ser58=) rs2104058977
NM_001378454.1(ALMS1):c.1782A>G (p.Leu594=) rs2103772183
NM_001378454.1(ALMS1):c.1785T>C (p.Thr595=)
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=) rs1671848772
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=) rs1558647545
NM_001378454.1(ALMS1):c.1812T>C (p.Ala604=) rs2103772267
NM_001378454.1(ALMS1):c.1818A>G (p.Gly606=) rs769637375
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=) rs1246038121
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=) rs2103772388
NM_001378454.1(ALMS1):c.1839C>A (p.Gly613=) rs1671849935
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.183G>T (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.1848T>G (p.Thr616=)
NM_001378454.1(ALMS1):c.186C>T (p.Pro62=) rs1190980857
NM_001378454.1(ALMS1):c.1881G>A (p.Lys627=)
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=) rs2103772646
NM_001378454.1(ALMS1):c.1902A>G (p.Gln634=)
NM_001378454.1(ALMS1):c.1911A>G (p.Pro637=)
NM_001378454.1(ALMS1):c.1914G>A (p.Glu638=)
NM_001378454.1(ALMS1):c.1917T>C (p.Ser639=)
NM_001378454.1(ALMS1):c.1926C>G (p.Thr642=)
NM_001378454.1(ALMS1):c.1929A>G (p.Glu643=)
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=) rs1670518826
NM_001378454.1(ALMS1):c.1941A>G (p.Glu647=)
NM_001378454.1(ALMS1):c.1944T>G (p.Val648=)
NM_001378454.1(ALMS1):c.1953T>C (p.Ala651=)
NM_001378454.1(ALMS1):c.1956T>C (p.Pro652=)
NM_001378454.1(ALMS1):c.1986T>G (p.Pro662=)
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=) rs1671853387
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=) rs894774935
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=) rs1671853720
NM_001378454.1(ALMS1):c.2010A>T (p.Ser670=)
NM_001378454.1(ALMS1):c.201T>C (p.Ser67=)
NM_001378454.1(ALMS1):c.2028C>T (p.Leu676=)
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=) rs2103773253
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2040A>C (p.Arg680=) rs1671855079
NM_001378454.1(ALMS1):c.2046C>G (p.Thr682=) rs549883815
NM_001378454.1(ALMS1):c.2046C>T (p.Thr682=)
NM_001378454.1(ALMS1):c.2058T>G (p.Gly686=)
NM_001378454.1(ALMS1):c.2064A>G (p.Leu688=) rs2103773421
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=) rs2103773444
NM_001378454.1(ALMS1):c.2076T>C (p.Ala692=) rs2103773481
NM_001378454.1(ALMS1):c.2079G>A (p.Leu693=)
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.2094G>A (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.2094G>T (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=) rs2103773586
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=) rs1558647749
NM_001378454.1(ALMS1):c.2106T>C (p.Ala702=)
NM_001378454.1(ALMS1):c.210C>T (p.Asp70=)
NM_001378454.1(ALMS1):c.213G>A (p.Glu71=)
NM_001378454.1(ALMS1):c.2142T>C (p.Thr714=)
NM_001378454.1(ALMS1):c.2145C>T (p.Pro715=) rs2103773848
NM_001378454.1(ALMS1):c.2148C>T (p.His716=)
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=) rs2103773885
NM_001378454.1(ALMS1):c.2154T>C (p.His718=)
NM_001378454.1(ALMS1):c.2157A>G (p.Arg719=) rs2103773939
NM_001378454.1(ALMS1):c.2163G>A (p.Lys721=) rs751753739
NM_001378454.1(ALMS1):c.2169T>C (p.Gly723=)
NM_001378454.1(ALMS1):c.216G>A (p.Glu72=)
NM_001378454.1(ALMS1):c.2181A>G (p.Gln727=)
NM_001378454.1(ALMS1):c.2193A>G (p.Ala731=)
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.2205A>G (p.Gln735=)
NM_001378454.1(ALMS1):c.2217T>C (p.Thr739=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=) rs2103774244
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=) rs2103774306
NM_001378454.1(ALMS1):c.2253C>T (p.Asp751=)
NM_001378454.1(ALMS1):c.2277A>G (p.Val759=)
NM_001378454.1(ALMS1):c.2289T>G (p.Ser763=) rs2103774625
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=) rs755847221
NM_001378454.1(ALMS1):c.2292C>T (p.Tyr764=) rs774724720
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=) rs2104059606
NM_001378454.1(ALMS1):c.2325A>G (p.Pro775=)
NM_001378454.1(ALMS1):c.2328G>A (p.Gln776=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=) rs1355065934
NM_001378454.1(ALMS1):c.2349A>G (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.2349A>T (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2352T>G (p.Pro784=)
NM_001378454.1(ALMS1):c.2364G>T (p.Leu788=)
NM_001378454.1(ALMS1):c.2382T>C (p.Ala794=) rs1671866816
NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=)
NM_001378454.1(ALMS1):c.2412A>G (p.Pro804=) rs2103775022
NM_001378454.1(ALMS1):c.2415A>T (p.Thr805=)
NM_001378454.1(ALMS1):c.2421C>G (p.Pro807=)
NM_001378454.1(ALMS1):c.2430A>G (p.Ala810=) rs2103775086
NM_001378454.1(ALMS1):c.2433C>T (p.Tyr811=) rs2103775106
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=) rs925267503
NM_001378454.1(ALMS1):c.2493C>G (p.Pro831=)
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=) rs2103775668
NM_001378454.1(ALMS1):c.255C>G (p.Gly85=)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=) rs1224727067
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=) rs547563359
NM_001378454.1(ALMS1):c.2580C>T (p.Ser860=) rs933460222
NM_001378454.1(ALMS1):c.2586A>G (p.Ser862=) rs761544791
NM_001378454.1(ALMS1):c.2592A>G (p.Gly864=) rs1553403535
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=) rs2103775854
NM_001378454.1(ALMS1):c.2616G>A (p.Gln872=)
NM_001378454.1(ALMS1):c.2622C>T (p.Thr874=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=) rs1671873372
NM_001378454.1(ALMS1):c.2646A>G (p.Glu882=)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=) rs2103776078
NM_001378454.1(ALMS1):c.2676A>C (p.Gly892=) rs745887923
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=) rs17848881
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=) rs2103776152
NM_001378454.1(ALMS1):c.2697G>T (p.Gly899=) rs2103776182
NM_001378454.1(ALMS1):c.2718T>C (p.Ser906=) rs2103776260
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=) rs2103776271
NM_001378454.1(ALMS1):c.2736G>A (p.Glu912=) rs2103776351
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=) rs373378385
NM_001378454.1(ALMS1):c.273G>C (p.Leu91=)
NM_001378454.1(ALMS1):c.2751T>C (p.Phe917=) rs2103776411
NM_001378454.1(ALMS1):c.2754C>T (p.Ser918=)
NM_001378454.1(ALMS1):c.2772C>T (p.Asp924=)
NM_001378454.1(ALMS1):c.279C>A (p.Pro93=)
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.27G>A (p.Pro9=)
NM_001378454.1(ALMS1):c.282G>A (p.Pro94=) rs764095354
NM_001378454.1(ALMS1):c.2844A>G (p.Pro948=) rs2103776713
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=) rs773581447
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=) rs551541932
NM_001378454.1(ALMS1):c.2853C>T (p.Ser951=)
NM_001378454.1(ALMS1):c.2871T>C (p.His957=)
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.288C>T (p.His96=)
NM_001378454.1(ALMS1):c.2898G>A (p.Gln966=) rs2103776938
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=) rs199769789
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.2934T>C (p.Ser978=)
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=) rs2103777030
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=) rs1229095266
NM_001378454.1(ALMS1):c.2952T>C (p.Ile984=)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=) rs2103777079
NM_001378454.1(ALMS1):c.2958A>T (p.Gly986=)
NM_001378454.1(ALMS1):c.2973G>A (p.Lys991=) rs1444578140
NM_001378454.1(ALMS1):c.2976T>C (p.Thr992=)
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=) rs1242113819
NM_001378454.1(ALMS1):c.2985A>C (p.Thr995=) rs2103777181
NM_001378454.1(ALMS1):c.3042A>G (p.Gln1014=)
NM_001378454.1(ALMS1):c.3045G>A (p.Gln1015=) rs2103777429
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=) rs1671883693
NM_001378454.1(ALMS1):c.3063T>C (p.Tyr1021=)
NM_001378454.1(ALMS1):c.3079C>T (p.Leu1027=)
NM_001378454.1(ALMS1):c.3096C>T (p.Gly1032=)
NM_001378454.1(ALMS1):c.30C>A (p.Gly10=)
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=) rs2103777616
NM_001378454.1(ALMS1):c.3108T>A (p.Ala1036=) rs2103777636
NM_001378454.1(ALMS1):c.3111C>T (p.Asp1037=) rs1671884843
NM_001378454.1(ALMS1):c.3129A>G (p.Pro1043=)
NM_001378454.1(ALMS1):c.312C>T (p.Thr104=)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=) rs2103777774
NM_001378454.1(ALMS1):c.3141T>C (p.Ser1047=) rs2103777780
NM_001378454.1(ALMS1):c.3150C>T (p.Tyr1050=)
NM_001378454.1(ALMS1):c.3162G>A (p.Glu1054=)
NM_001378454.1(ALMS1):c.3168T>A (p.Pro1056=) rs1180428746
NM_001378454.1(ALMS1):c.3175T>C (p.Leu1059=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=) rs766133181
NM_001378454.1(ALMS1):c.3207A>G (p.Leu1069=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=) rs2103778010
NM_001378454.1(ALMS1):c.3210T>C (p.Pro1070=) rs2103778016
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=) rs771305195
NM_001378454.1(ALMS1):c.3237C>T (p.Phe1079=)
NM_001378454.1(ALMS1):c.324+11C>A
NM_001378454.1(ALMS1):c.324+11_324+33dup
NM_001378454.1(ALMS1):c.324+12C>G
NM_001378454.1(ALMS1):c.324+12C>T rs1553396311
NM_001378454.1(ALMS1):c.324+14G>A rs1553396313
NM_001378454.1(ALMS1):c.324+16G>A
NM_001378454.1(ALMS1):c.324+16G>C rs1276086207
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+20G>A
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.324+7C>T
NM_001378454.1(ALMS1):c.324+8G>C
NM_001378454.1(ALMS1):c.3240T>C (p.Pro1080=) rs1459135087
NM_001378454.1(ALMS1):c.325-14C>G
NM_001378454.1(ALMS1):c.325-17C>T
NM_001378454.1(ALMS1):c.325-18C>T
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3270A>G (p.Pro1090=) rs2103778240
NM_001378454.1(ALMS1):c.3281C>T (p.Ser1094Phe)
NM_001378454.1(ALMS1):c.3282T>C (p.Ser1094=)
NM_001378454.1(ALMS1):c.3297A>G (p.Gln1099=)
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=) rs2103778429
NM_001378454.1(ALMS1):c.3312T>C (p.Gly1104=)
NM_001378454.1(ALMS1):c.3318C>T (p.Phe1106=) rs1044966122
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=) rs749570443
NM_001378454.1(ALMS1):c.3346C>T (p.Leu1116=)
NM_001378454.1(ALMS1):c.3360T>C (p.Ala1120=)
NM_001378454.1(ALMS1):c.3361C>T (p.Leu1121=)
NM_001378454.1(ALMS1):c.336G>A (p.Leu112=) rs2103675446
NM_001378454.1(ALMS1):c.3372A>G (p.Ser1124=) rs2103778635
NM_001378454.1(ALMS1):c.3390A>G (p.Ala1130=)
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=) rs2103675459
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=) rs1217067369
NM_001378454.1(ALMS1):c.3405C>G (p.Gly1135=) rs1671892631
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=) rs2103778870
NM_001378454.1(ALMS1):c.3429C>T (p.Ser1143=)
NM_001378454.1(ALMS1):c.342T>C (p.Cys114=)
NM_001378454.1(ALMS1):c.3441T>C (p.His1147=)
NM_001378454.1(ALMS1):c.3444A>G (p.Arg1148=)
NM_001378454.1(ALMS1):c.3453C>A (p.Pro1151=)
NM_001378454.1(ALMS1):c.3456C>T (p.Ser1152=) rs2103779021
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.3474C>T (p.Ala1158=)
NM_001378454.1(ALMS1):c.348A>G (p.Val116=) rs1433156767
NM_001378454.1(ALMS1):c.3498A>G (p.Glu1166=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=) rs1671897364
NM_001378454.1(ALMS1):c.3507G>A (p.Gln1169=) rs1671897487
NM_001378454.1(ALMS1):c.3510A>G (p.Lys1170=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=) rs2103779222
NM_001378454.1(ALMS1):c.3525T>C (p.Thr1175=) rs2103779262
NM_001378454.1(ALMS1):c.3528A>G (p.Gly1176=) rs754195469
NM_001378454.1(ALMS1):c.3531A>G (p.Pro1177=) rs2103779290
NM_001378454.1(ALMS1):c.3534T>A (p.Gly1178=)
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=) rs2103779398
NM_001378454.1(ALMS1):c.3573C>T (p.Phe1191=)
NM_001378454.1(ALMS1):c.357G>A (p.Gln119=) rs2103675566
NM_001378454.1(ALMS1):c.3600T>C (p.Ile1200=)
NM_001378454.1(ALMS1):c.3615C>T (p.Thr1205=)
NM_001378454.1(ALMS1):c.3618G>A (p.Leu1206=) rs755365899
NM_001378454.1(ALMS1):c.3621A>C (p.Pro1207=)
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=) rs1400230315
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=) rs1671901472
NM_001378454.1(ALMS1):c.3699T>A (p.Thr1233=) rs1425724214
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3705C>G (p.Thr1235=) rs2103779892
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=) rs2103779956
NM_001378454.1(ALMS1):c.3726A>G (p.Thr1242=)
NM_001378454.1(ALMS1):c.3738T>C (p.Gly1246=)
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=) rs1671904168
NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=)
NM_001378454.1(ALMS1):c.375T>C (p.Asn125=)
NM_001378454.1(ALMS1):c.3774A>G (p.Pro1258=)
NM_001378454.1(ALMS1):c.3780A>G (p.Glu1260=)
NM_001378454.1(ALMS1):c.3786T>A (p.Ala1262=)
NM_001378454.1(ALMS1):c.378T>C (p.Ser126=) rs1381438379
NM_001378454.1(ALMS1):c.3810A>G (p.Glu1270=)
NM_001378454.1(ALMS1):c.3822G>A (p.Gln1274=) rs2103780287
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=) rs1553403755
NM_001378454.1(ALMS1):c.3840T>G (p.Ala1280=)
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=) rs1671906603
NM_001378454.1(ALMS1):c.3855C>T (p.Ser1285=) rs1419621960
NM_001378454.1(ALMS1):c.3858C>T (p.Tyr1286=)
NM_001378454.1(ALMS1):c.3864A>G (p.Gln1288=)
NM_001378454.1(ALMS1):c.3888C>T (p.Phe1296=)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=) rs745335322
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=) rs1480882041
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=) rs1572934606
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=) rs2103780690
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=) rs1338636347
NM_001378454.1(ALMS1):c.3951T>G (p.Pro1317=)
NM_001378454.1(ALMS1):c.3957A>C (p.Pro1319=) rs2103780813
NM_001378454.1(ALMS1):c.3960T>C (p.Ala1320=) rs1279158289
NM_001378454.1(ALMS1):c.3978A>T (p.Ile1326=)
NM_001378454.1(ALMS1):c.399T>C (p.Thr133=)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=) rs1572934743
NM_001378454.1(ALMS1):c.4017G>A (p.Lys1339=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=) rs1175672394
NM_001378454.1(ALMS1):c.4035A>G (p.Gln1345=)
NM_001378454.1(ALMS1):c.4044G>A (p.Leu1348=) rs2103781109
NM_001378454.1(ALMS1):c.4053T>C (p.Ser1351=) rs1671912203
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=) rs2103781195
NM_001378454.1(ALMS1):c.405G>C (p.Val135=) rs1485864480
NM_001378454.1(ALMS1):c.4071T>C (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4077A>G (p.Lys1359=) rs2103781279
NM_001378454.1(ALMS1):c.4083A>G (p.Ser1361=)
NM_001378454.1(ALMS1):c.408C>T (p.Val136=)
NM_001378454.1(ALMS1):c.4107G>A (p.Gln1369=)
NM_001378454.1(ALMS1):c.4110A>G (p.Thr1370=) rs1379058502
NM_001378454.1(ALMS1):c.4128A>T (p.Val1376=)
NM_001378454.1(ALMS1):c.4131C>G (p.Thr1377=) rs759705921
NM_001378454.1(ALMS1):c.4146A>C (p.Ser1382=)
NM_001378454.1(ALMS1):c.4155A>G (p.Thr1385=)
NM_001378454.1(ALMS1):c.4164G>A (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=) rs2103781665
NM_001378454.1(ALMS1):c.4182G>A (p.Gln1394=) rs2103781742
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4185G>T (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4188G>A (p.Leu1396=)
NM_001378454.1(ALMS1):c.4200T>C (p.His1400=)
NM_001378454.1(ALMS1):c.4203A>G (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4203A>T (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4212G>A (p.Glu1404=) rs2103781869
NM_001378454.1(ALMS1):c.4224T>C (p.Val1408=)
NM_001378454.1(ALMS1):c.4227A>G (p.Ser1409=)
NM_001378454.1(ALMS1):c.4242A>G (p.Pro1414=)
NM_001378454.1(ALMS1):c.4257T>C (p.Thr1419=)
NM_001378454.1(ALMS1):c.4260G>A (p.Gly1420=) rs1302057894
NM_001378454.1(ALMS1):c.4275C>T (p.Pro1425=) rs775642753
NM_001378454.1(ALMS1):c.4281T>G (p.Thr1427=)
NM_001378454.1(ALMS1):c.4287C>T (p.Tyr1429=) rs2103782170
NM_001378454.1(ALMS1):c.4293C>T (p.His1431=)
NM_001378454.1(ALMS1):c.429G>A (p.Gln143=)
NM_001378454.1(ALMS1):c.42G>A (p.Glu14=)
NM_001378454.1(ALMS1):c.4305T>C (p.Pro1435=)
NM_001378454.1(ALMS1):c.4305T>G (p.Pro1435=)
NM_001378454.1(ALMS1):c.4320A>G (p.Gln1440=)
NM_001378454.1(ALMS1):c.4326C>G (p.Val1442=) rs2103782316
NM_001378454.1(ALMS1):c.4329G>A (p.Leu1443=)
NM_001378454.1(ALMS1):c.432G>C (p.Arg144=)
NM_001378454.1(ALMS1):c.4335T>C (p.His1445=) rs1671921734
NM_001378454.1(ALMS1):c.4342C>T (p.Leu1448=) rs2103782408
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=) rs2103782437
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=) rs879109152
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=) rs2103782553
NM_001378454.1(ALMS1):c.4395G>A (p.Thr1465=) rs530399810
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=) rs2103782683
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=) rs2103782733
NM_001378454.1(ALMS1):c.4419C>T (p.Ser1473=) rs1237859208
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=) rs2103675916
NM_001378454.1(ALMS1):c.4425C>T (p.Ser1475=)
NM_001378454.1(ALMS1):c.4428C>T (p.Ser1476=) rs2103782815
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=) rs2103782849
NM_001378454.1(ALMS1):c.444T>C (p.Asp148=) rs2103675943
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=) rs2103782920
NM_001378454.1(ALMS1):c.4482T>C (p.His1494=)
NM_001378454.1(ALMS1):c.4488T>C (p.Pro1496=)
NM_001378454.1(ALMS1):c.450+10C>T
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+19G>A rs1553398858
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+24_450+40del rs1553398860
NM_001378454.1(ALMS1):c.450+7C>G
NM_001378454.1(ALMS1):c.450+7C>T
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=) rs2103783053
NM_001378454.1(ALMS1):c.451-10A>C
NM_001378454.1(ALMS1):c.451-12A>T
NM_001378454.1(ALMS1):c.451-14dup
NM_001378454.1(ALMS1):c.451-16T>C rs1553399953
NM_001378454.1(ALMS1):c.451-17C>T
NM_001378454.1(ALMS1):c.451-5T>C rs774098604
NM_001378454.1(ALMS1):c.4515T>C (p.Ala1505=) rs941586130
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=) rs2103783089
NM_001378454.1(ALMS1):c.4542C>G (p.Gly1514=)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=) rs1248066457
NM_001378454.1(ALMS1):c.4551T>C (p.Thr1517=)
NM_001378454.1(ALMS1):c.4557C>T (p.Thr1519=)
NM_001378454.1(ALMS1):c.4566C>T (p.Ser1522=) rs2103783250
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=) rs768094497
NM_001378454.1(ALMS1):c.4593C>G (p.Gly1531=)
NM_001378454.1(ALMS1):c.4602C>T (p.Tyr1534=) rs1671928123
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=) rs201603580
NM_001378454.1(ALMS1):c.462T>C (p.Ser154=) rs1671236853
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=) rs2103783427
NM_001378454.1(ALMS1):c.4641T>A (p.Ala1547=)
NM_001378454.1(ALMS1):c.4644C>T (p.Leu1548=)
NM_001378454.1(ALMS1):c.4647A>G (p.Arg1549=) rs564445910
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=) rs1191872718
NM_001378454.1(ALMS1):c.4668A>G (p.Pro1556=)
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=) rs2103783628
NM_001378454.1(ALMS1):c.468T>C (p.His156=)
NM_001378454.1(ALMS1):c.4695C>G (p.Thr1565=) rs2103783674
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=) rs1301217256
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=) rs2103783750
NM_001378454.1(ALMS1):c.4731G>T (p.Pro1577=) rs747216050
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=) rs749067384
NM_001378454.1(ALMS1):c.4755T>C (p.Phe1585=)
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=) rs772781647
NM_001378454.1(ALMS1):c.4779G>A (p.Glu1593=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=) rs2103701270
NM_001378454.1(ALMS1):c.4809T>C (p.Pro1603=) rs2103784041
NM_001378454.1(ALMS1):c.4812T>G (p.Thr1604=)
NM_001378454.1(ALMS1):c.4815A>G (p.Glu1605=) rs1671934084
NM_001378454.1(ALMS1):c.4833A>C (p.Pro1611=)
NM_001378454.1(ALMS1):c.4836A>G (p.Ala1612=)
NM_001378454.1(ALMS1):c.4848T>C (p.Gly1616=)
NM_001378454.1(ALMS1):c.4860T>C (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4860T>G (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4869G>A (p.Lys1623=) rs2103784240
NM_001378454.1(ALMS1):c.4878T>A (p.Thr1626=) rs2103784269
NM_001378454.1(ALMS1):c.4881C>T (p.Phe1627=) rs983255370
NM_001378454.1(ALMS1):c.4884C>T (p.Tyr1628=)
NM_001378454.1(ALMS1):c.4887G>T (p.Arg1629=)
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=) rs2103784349
NM_001378454.1(ALMS1):c.4899A>G (p.Leu1633=) rs1060503816
NM_001378454.1(ALMS1):c.4902C>T (p.Asp1634=) rs1553403951
NM_001378454.1(ALMS1):c.4905T>C (p.Ser1635=) rs2103784392
NM_001378454.1(ALMS1):c.4909C>T (p.Leu1637=)
NM_001378454.1(ALMS1):c.4920G>A (p.Glu1640=) rs1572935943
NM_001378454.1(ALMS1):c.4929A>G (p.Lys1643=) rs1671937732
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=) rs1671237785
NM_001378454.1(ALMS1):c.4941T>C (p.Ala1647=)
NM_001378454.1(ALMS1):c.4944T>C (p.Pro1648=)
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=) rs2103701334
NM_001378454.1(ALMS1):c.4971A>G (p.Thr1657=) rs780637359
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=) rs2103784707
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=) rs774538998
NM_001378454.1(ALMS1):c.5004G>A (p.Arg1668=) rs1432669722
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=) rs2103784845
NM_001378454.1(ALMS1):c.5016C>A (p.Val1672=) rs2103784862
NM_001378454.1(ALMS1):c.501C>T (p.Thr167=)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=) rs2103784887
NM_001378454.1(ALMS1):c.5034C>A (p.Thr1678=)
NM_001378454.1(ALMS1):c.5034C>T (p.Thr1678=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=) rs760829019
NM_001378454.1(ALMS1):c.5058A>G (p.Glu1686=) rs2103784966
NM_001378454.1(ALMS1):c.507T>C (p.Asp169=)
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=) rs2103785042
NM_001378454.1(ALMS1):c.5097C>G (p.Ala1699=) rs1671942002
NM_001378454.1(ALMS1):c.510A>C (p.Thr170=) rs2103701377
NM_001378454.1(ALMS1):c.5115A>G (p.Pro1705=) rs2103785134
NM_001378454.1(ALMS1):c.5127T>C (p.Ser1709=)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=) rs2103785199
NM_001378454.1(ALMS1):c.5136C>T (p.Tyr1712=)
NM_001378454.1(ALMS1):c.5139A>G (p.Ser1713=)
NM_001378454.1(ALMS1):c.513C>T (p.Ser171=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=) rs772136379
NM_001378454.1(ALMS1):c.5151G>A (p.Lys1717=)
NM_001378454.1(ALMS1):c.5160C>T (p.Val1720=)
NM_001378454.1(ALMS1):c.5166C>T (p.Tyr1722=)
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=) rs2103785406
NM_001378454.1(ALMS1):c.5193A>G (p.Leu1731=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.519T>G (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.5206C>T (p.Leu1736=)
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=) rs755418143
NM_001378454.1(ALMS1):c.5226T>C (p.Pro1742=)
NM_001378454.1(ALMS1):c.5229A>G (p.Gln1743=)
NM_001378454.1(ALMS1):c.5232A>G (p.Pro1744=)
NM_001378454.1(ALMS1):c.5235T>C (p.Ala1745=)
NM_001378454.1(ALMS1):c.5247T>G (p.Thr1749=) rs1271339315
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=) rs2103785711
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=) rs1671947018
NM_001378454.1(ALMS1):c.528T>C (p.Asn176=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=) rs1393538628
NM_001378454.1(ALMS1):c.5295T>C (p.Pro1765=) rs1671947534
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=) rs1320062396
NM_001378454.1(ALMS1):c.5304T>C (p.Ser1768=) rs753295349
NM_001378454.1(ALMS1):c.5307C>T (p.Tyr1769=)
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5313A>G (p.Gln1771=)
NM_001378454.1(ALMS1):c.5317T>C (p.Leu1773=)
NM_001378454.1(ALMS1):c.531G>A (p.Val177=)
NM_001378454.1(ALMS1):c.5322A>G (p.Pro1774=)
NM_001378454.1(ALMS1):c.5331T>C (p.His1777=) rs770037382
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=) rs559383661
NM_001378454.1(ALMS1):c.5340A>G (p.Glu1780=) rs2103786116
NM_001378454.1(ALMS1):c.5364T>C (p.Val1788=) rs2103786225
NM_001378454.1(ALMS1):c.5379C>T (p.Asp1793=)
NM_001378454.1(ALMS1):c.5388T>G (p.Thr1796=)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=) rs1269563462
NM_001378454.1(ALMS1):c.5415C>G (p.Ser1805=)
NM_001378454.1(ALMS1):c.5436C>T (p.Pro1812=) rs2103786498
NM_001378454.1(ALMS1):c.543T>C (p.Asp181=)
NM_001378454.1(ALMS1):c.5451G>A (p.Gln1817=)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=) rs886038613
NM_001378454.1(ALMS1):c.5478A>T (p.Ala1826=)
NM_001378454.1(ALMS1):c.5482T>C (p.Leu1828=) rs2103786711
NM_001378454.1(ALMS1):c.5484G>A (p.Leu1828=) rs376996058
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5499T>A (p.Val1833=)
NM_001378454.1(ALMS1):c.5502T>C (p.Pro1834=)
NM_001378454.1(ALMS1):c.5514C>T (p.Asp1838=)
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=) rs1389209265
NM_001378454.1(ALMS1):c.5541C>T (p.Pro1847=)
NM_001378454.1(ALMS1):c.5556A>C (p.Pro1852=)
NM_001378454.1(ALMS1):c.5571T>G (p.Ser1857=) rs1268193702
NM_001378454.1(ALMS1):c.5574C>G (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5574C>T (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5583T>C (p.Tyr1861=)
NM_001378454.1(ALMS1):c.5593T>C (p.Leu1865=) rs775039046
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=) rs2103787065
NM_001378454.1(ALMS1):c.5640G>A (p.Gly1880=)
NM_001378454.1(ALMS1):c.564C>G (p.Pro188=)
NM_001378454.1(ALMS1):c.5655G>A (p.Lys1885=) rs2103787253
NM_001378454.1(ALMS1):c.5658T>C (p.Thr1886=) rs1019893311
NM_001378454.1(ALMS1):c.5661G>A (p.Gly1887=)
NM_001378454.1(ALMS1):c.5673A>C (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5676C>A (p.Ser1892=)
NM_001378454.1(ALMS1):c.5694T>C (p.Asn1898=) rs1317035563
NM_001378454.1(ALMS1):c.5706C>G (p.Ala1902=)
NM_001378454.1(ALMS1):c.5712T>A (p.Ile1904=)
NM_001378454.1(ALMS1):c.5715T>C (p.Phe1905=) rs1386434113
NM_001378454.1(ALMS1):c.5733A>G (p.Pro1911=)
NM_001378454.1(ALMS1):c.5742T>A (p.Thr1914=) rs2103787524
NM_001378454.1(ALMS1):c.5742T>C (p.Thr1914=)
NM_001378454.1(ALMS1):c.5757T>C (p.Asn1919=)
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp) rs886056304
NM_001378454.1(ALMS1):c.5787G>A (p.Arg1929=) rs2103787695
NM_001378454.1(ALMS1):c.5790G>A (p.Lys1930=)
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5808A>G (p.Val1936=) rs2103787767
NM_001378454.1(ALMS1):c.5811T>C (p.Pro1937=)
NM_001378454.1(ALMS1):c.5812T>C (p.Leu1938=)
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=) rs2103787800
NM_001378454.1(ALMS1):c.5823C>T (p.Tyr1941=) rs1174994694
NM_001378454.1(ALMS1):c.5826A>T (p.Ser1942=)
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.5838G>A (p.Lys1946=)
NM_001378454.1(ALMS1):c.583T>C (p.Leu195=) rs777906149
NM_001378454.1(ALMS1):c.5841C>G (p.Pro1947=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=) rs1558650547
NM_001378454.1(ALMS1):c.5868A>G (p.Pro1956=)
NM_001378454.1(ALMS1):c.5871C>T (p.Asp1957=) rs747535416
NM_001378454.1(ALMS1):c.5889G>A (p.Glu1963=) rs2103788040
NM_001378454.1(ALMS1):c.5904A>C (p.Ser1968=) rs1050193710
NM_001378454.1(ALMS1):c.5904A>G (p.Ser1968=)
NM_001378454.1(ALMS1):c.5913T>C (p.Ser1971=)
NM_001378454.1(ALMS1):c.5919A>G (p.Pro1973=) rs755966607
NM_001378454.1(ALMS1):c.5922A>G (p.Ala1974=)
NM_001378454.1(ALMS1):c.5925G>A (p.Glu1975=) rs2103788193
NM_001378454.1(ALMS1):c.5952G>A (p.Leu1984=)
NM_001378454.1(ALMS1):c.5952G>T (p.Leu1984=) rs2103788277
NM_001378454.1(ALMS1):c.5955T>C (p.Ser1985=) rs2103788292
NM_001378454.1(ALMS1):c.5964C>T (p.Tyr1988=) rs2103788334
NM_001378454.1(ALMS1):c.5967A>G (p.Ser1989=)
NM_001378454.1(ALMS1):c.5973A>G (p.Ser1991=)
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=) rs2103788409
NM_001378454.1(ALMS1):c.5988C>G (p.Leu1996=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=) rs774242715
NM_001378454.1(ALMS1):c.6000T>C (p.Thr2000=) rs2103788462
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=) rs765190182
NM_001378454.1(ALMS1):c.6042T>C (p.Ala2014=)
NM_001378454.1(ALMS1):c.6045C>A (p.Thr2015=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=) rs2103788731
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=) rs2103788790
NM_001378454.1(ALMS1):c.6090G>A (p.Val2030=)
NM_001378454.1(ALMS1):c.6099A>G (p.Pro2033=)
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=) rs2103788937
NM_001378454.1(ALMS1):c.6120C>G (p.Ser2040=)
NM_001378454.1(ALMS1):c.6147T>C (p.Ser2049=)
NM_001378454.1(ALMS1):c.6153A>G (p.Thr2051=) rs1671972805
NM_001378454.1(ALMS1):c.6156A>C (p.Val2052=)
NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=)
NM_001378454.1(ALMS1):c.615C>G (p.Pro205=) rs2103701886
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=) rs2103789211
NM_001378454.1(ALMS1):c.6183G>A (p.Gln2061=) rs200041852
NM_001378454.1(ALMS1):c.6189A>G (p.Pro2063=)
NM_001378454.1(ALMS1):c.6192T>C (p.Asp2064=) rs1357962379
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=) rs1671974435
NM_001378454.1(ALMS1):c.6216A>C (p.Leu2072=)
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.6231C>T (p.Val2077=) rs748449043
NM_001378454.1(ALMS1):c.6237A>G (p.Glu2079=)
NM_001378454.1(ALMS1):c.6261A>G (p.Lys2087=) rs2103789480
NM_001378454.1(ALMS1):c.6264A>T (p.Pro2088=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=) rs1357847945
NM_001378454.1(ALMS1):c.6279T>C (p.Ser2093=) rs1572937640
NM_001378454.1(ALMS1):c.627C>T (p.Leu209=)
NM_001378454.1(ALMS1):c.6291C>T (p.His2097=)
NM_001378454.1(ALMS1):c.6300A>G (p.Lys2100=)
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6303G>T (p.Ser2101=)
NM_001378454.1(ALMS1):c.6327G>A (p.Leu2109=)
NM_001378454.1(ALMS1):c.6336T>C (p.Ser2112=)
NM_001378454.1(ALMS1):c.633T>C (p.Cys211=) rs2103701981
NM_001378454.1(ALMS1):c.6354G>C (p.Val2118=)
NM_001378454.1(ALMS1):c.6355C>T (p.Leu2119=)
NM_001378454.1(ALMS1):c.6360G>A (p.Lys2120=) rs1671978064
NM_001378454.1(ALMS1):c.636T>C (p.Ser212=)
NM_001378454.1(ALMS1):c.6378A>G (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6378A>T (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6381A>G (p.Pro2127=) rs1671978462
NM_001378454.1(ALMS1):c.6396A>G (p.Thr2132=)
NM_001378454.1(ALMS1):c.6399A>T (p.Val2133=)
NM_001378454.1(ALMS1):c.639A>G (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.639A>T (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=) rs1004961829
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=) rs2103789974
NM_001378454.1(ALMS1):c.640C>T (p.Leu214=)
NM_001378454.1(ALMS1):c.6423C>G (p.Ser2141=)
NM_001378454.1(ALMS1):c.6429A>G (p.Ser2143=) rs1165256588
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6447T>C (p.Asp2149=) rs765803796
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+11T>C
NM_001378454.1(ALMS1):c.646+13T>C
NM_001378454.1(ALMS1):c.646+20A>G
NM_001378454.1(ALMS1):c.646+7C>G
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.6462G>A (p.Lys2154=)
NM_001378454.1(ALMS1):c.647-11A>C
NM_001378454.1(ALMS1):c.647-14T>G
NM_001378454.1(ALMS1):c.647-19_647-18insT rs1553400422
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.647-8C>T
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=) rs2103790221
NM_001378454.1(ALMS1):c.6477A>G (p.Arg2159=)
NM_001378454.1(ALMS1):c.6481C>T (p.Leu2161=) rs2103790282
NM_001378454.1(ALMS1):c.6498A>G (p.Leu2166=)
NM_001378454.1(ALMS1):c.6504C>A (p.Ile2168=)
NM_001378454.1(ALMS1):c.6513T>C (p.Ala2171=) rs1671982281
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=) rs2103790429
NM_001378454.1(ALMS1):c.6525T>G (p.Ala2175=)
NM_001378454.1(ALMS1):c.6534T>C (p.Ile2178=)
NM_001378454.1(ALMS1):c.6541T>C (p.Leu2181=)
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.654A>G (p.Gln218=) rs546669517
NM_001378454.1(ALMS1):c.6561T>A (p.Gly2187=)
NM_001378454.1(ALMS1):c.6591T>A (p.Leu2197=)
NM_001378454.1(ALMS1):c.6597A>G (p.Ser2199=)
NM_001378454.1(ALMS1):c.6603T>C (p.His2201=)
NM_001378454.1(ALMS1):c.6606C>A (p.Val2202=) rs2103790804
NM_001378454.1(ALMS1):c.663T>C (p.Phe221=)
NM_001378454.1(ALMS1):c.6642C>T (p.Ser2214=)
NM_001378454.1(ALMS1):c.6645T>C (p.Ser2215=)
NM_001378454.1(ALMS1):c.6663G>C (p.Val2221=)
NM_001378454.1(ALMS1):c.6681T>A (p.Ala2227=)
NM_001378454.1(ALMS1):c.6681T>C (p.Ala2227=) rs2103791063
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
NM_001378454.1(ALMS1):c.6696A>C (p.Val2232=)
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=) rs1574423753
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=) rs2103791280
NM_001378454.1(ALMS1):c.6777T>C (p.Leu2259=)
NM_001378454.1(ALMS1):c.6796T>C (p.Leu2266=)
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=) rs2103791525
NM_001378454.1(ALMS1):c.681T>C (p.Pro227=) rs2103710453
NM_001378454.1(ALMS1):c.6828A>G (p.Arg2276=)
NM_001378454.1(ALMS1):c.6843T>C (p.Ala2281=)
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=) rs2103791656
NM_001378454.1(ALMS1):c.6888A>G (p.Gln2296=)
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
NM_001378454.1(ALMS1):c.6909C>T (p.Phe2303=) rs1229228880
NM_001378454.1(ALMS1):c.6918C>G (p.Pro2306=)
NM_001378454.1(ALMS1):c.6918C>T (p.Pro2306=)
NM_001378454.1(ALMS1):c.6921T>C (p.Ser2307=)
NM_001378454.1(ALMS1):c.6927G>A (p.Thr2309=)
NM_001378454.1(ALMS1):c.6930T>C (p.Gly2310=)
NM_001378454.1(ALMS1):c.6933A>C (p.Val2311=)
NM_001378454.1(ALMS1):c.6936T>C (p.Ser2312=)
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=) rs754729193
NM_001378454.1(ALMS1):c.6957A>G (p.Arg2319=)
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=) rs2103792111
NM_001378454.1(ALMS1):c.696G>A (p.Leu232=) rs1394347088
NM_001378454.1(ALMS1):c.6972G>A (p.Glu2324=) rs2103792130
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=) rs2103792157
NM_001378454.1(ALMS1):c.6990G>A (p.Arg2330=) rs2103792165
NM_001378454.1(ALMS1):c.699A>G (p.Thr233=)
NM_001378454.1(ALMS1):c.69G>A (p.Glu23=)
NM_001378454.1(ALMS1):c.7008T>C (p.Ile2336=)
NM_001378454.1(ALMS1):c.7029A>G (p.Lys2343=) rs2103792354
NM_001378454.1(ALMS1):c.7033C>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7035G>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7041C>T (p.Gly2347=) rs2103792423
NM_001378454.1(ALMS1):c.7050T>C (p.Asn2350=)
NM_001378454.1(ALMS1):c.7059T>C (p.Phe2353=) rs1671996344
NM_001378454.1(ALMS1):c.705C>T (p.Asp235=)
NM_001378454.1(ALMS1):c.7086T>G (p.Pro2362=) rs1170522128
NM_001378454.1(ALMS1):c.7087C>T (p.Leu2363=)
NM_001378454.1(ALMS1):c.711A>G (p.Glu237=) rs2103710597
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=) rs2103792743
NM_001378454.1(ALMS1):c.7155A>G (p.Lys2385=)
NM_001378454.1(ALMS1):c.7170T>C (p.Ser2390=)
NM_001378454.1(ALMS1):c.717G>T (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7194C>T (p.Thr2398=)
NM_001378454.1(ALMS1):c.7209T>C (p.Ile2403=)
NM_001378454.1(ALMS1):c.7215C>T (p.Ile2405=) rs2103793068
NM_001378454.1(ALMS1):c.7230C>T (p.Val2410=) rs2103793146
NM_001378454.1(ALMS1):c.7242T>C (p.Asp2414=)
NM_001378454.1(ALMS1):c.7251T>C (p.Ser2417=)
NM_001378454.1(ALMS1):c.7275C>G (p.Ser2425=) rs748261604
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=) rs748261604
NM_001378454.1(ALMS1):c.7296A>G (p.Leu2432=)
NM_001378454.1(ALMS1):c.729A>G (p.Leu243=)
NM_001378454.1(ALMS1):c.7311A>G (p.Glu2437=)
NM_001378454.1(ALMS1):c.7320T>C (p.Ser2440=) rs1672002722
NM_001378454.1(ALMS1):c.7330C>T (p.Leu2444=)
NM_001378454.1(ALMS1):c.7341T>C (p.Phe2447=) rs1430973672
NM_001378454.1(ALMS1):c.7344A>C (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7344A>G (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7347T>C (p.Tyr2449=) rs755252895
NM_001378454.1(ALMS1):c.7353A>G (p.Ser2451=)
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=) rs1290880090
NM_001378454.1(ALMS1):c.7389G>A (p.Glu2463=)
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=) rs1558651751
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=) rs2103793843
NM_001378454.1(ALMS1):c.7435C>T (p.Leu2479=)
NM_001378454.1(ALMS1):c.7443A>G (p.Ala2481=)
NM_001378454.1(ALMS1):c.744A>G (p.Glu248=)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=) rs1286157205
NM_001378454.1(ALMS1):c.7455C>T (p.Asn2485=)
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7482T>C (p.Asn2494=)
NM_001378454.1(ALMS1):c.7485T>C (p.His2495=)
NM_001378454.1(ALMS1):c.7491A>G (p.Lys2497=)
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGA (p.Glu28_Ala29insGluGluGlu)
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=) rs2103794339
NM_001378454.1(ALMS1):c.7530A>G (p.Val2510=) rs2103794345
NM_001378454.1(ALMS1):c.7536A>G (p.Ala2512=)
NM_001378454.1(ALMS1):c.7540+10A>G rs2103794412
NM_001378454.1(ALMS1):c.7540+11A>G rs1553404509
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+18G>A
NM_001378454.1(ALMS1):c.7540+19G>A
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7540+9A>G
NM_001378454.1(ALMS1):c.7541-17G>A
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>T rs1553404629
NM_001378454.1(ALMS1):c.7557C>T (p.Phe2519=) rs2103797357
NM_001378454.1(ALMS1):c.756A>C (p.Ala252=) rs2103710786
NM_001378454.1(ALMS1):c.7575T>C (p.Cys2525=) rs1211562053
NM_001378454.1(ALMS1):c.7578A>G (p.Gly2526=) rs1204731958
NM_001378454.1(ALMS1):c.7581C>T (p.Tyr2527=) rs761997400
NM_001378454.1(ALMS1):c.7584C>G (p.Ser2528=) rs1672034621
NM_001378454.1(ALMS1):c.7596A>G (p.Leu2532=)
NM_001378454.1(ALMS1):c.7599T>C (p.Asn2533=)
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.75_83del (p.Glu26_Glu28del)
NM_001378454.1(ALMS1):c.7608C>T (p.Asp2536=)
NM_001378454.1(ALMS1):c.7609A>C (p.Arg2537=)
NM_001378454.1(ALMS1):c.760C>T (p.Leu254=) rs774576999
NM_001378454.1(ALMS1):c.7611G>A (p.Arg2537=)
NM_001378454.1(ALMS1):c.7620A>G (p.Val2540=)
NM_001378454.1(ALMS1):c.7623A>G (p.Glu2541=)
NM_001378454.1(ALMS1):c.7632G>A (p.Lys2544=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=) rs752568120
NM_001378454.1(ALMS1):c.7638G>A (p.Glu2546=) rs1672035793
NM_001378454.1(ALMS1):c.764+12T>A
NM_001378454.1(ALMS1):c.764+12dup rs2103710895
NM_001378454.1(ALMS1):c.764+13A>C
NM_001378454.1(ALMS1):c.764+17G>A
NM_001378454.1(ALMS1):c.764+17G>T rs1057524596
NM_001378454.1(ALMS1):c.764+20T>G
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.7647T>C (p.Gly2549=)
NM_001378454.1(ALMS1):c.765-11T>C
NM_001378454.1(ALMS1):c.765-15_765-12del rs1432858141
NM_001378454.1(ALMS1):c.765-17T>C
NM_001378454.1(ALMS1):c.765-20_765-17del
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.765-6T>C rs755762723
NM_001378454.1(ALMS1):c.765-8A>G rs2103714342
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=) rs756901095
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=) rs1553404658
NM_001378454.1(ALMS1):c.7666T>C (p.Leu2556=) rs2103797706
NM_001378454.1(ALMS1):c.7671C>T (p.Ser2557=) rs749872283
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+13T>C
NM_001378454.1(ALMS1):c.7674+14C>T
NM_001378454.1(ALMS1):c.7675-12T>C
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.7675-15G>T
NM_001378454.1(ALMS1):c.7675-4C>T
NM_001378454.1(ALMS1):c.7675-8T>C
NM_001378454.1(ALMS1):c.7675-9A>G rs2103889006
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=) rs944178146
NM_001378454.1(ALMS1):c.7701A>G (p.Gly2567=)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=) rs750225944
NM_001378454.1(ALMS1):c.7713A>G (p.Glu2571=)
NM_001378454.1(ALMS1):c.7740G>A (p.Glu2580=)
NM_001378454.1(ALMS1):c.774T>C (p.Pro258=)
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=) rs745947655
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=) rs753477646
NM_001378454.1(ALMS1):c.7788A>G (p.Gln2596=)
NM_001378454.1(ALMS1):c.7797A>G (p.Arg2599=)
NM_001378454.1(ALMS1):c.7800C>T (p.His2600=)
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7821T>G (p.Ala2607=)
NM_001378454.1(ALMS1):c.7830A>G (p.Ser2610=)
NM_001378454.1(ALMS1):c.7839C>A (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.7839C>G (p.Thr2613=)
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=) rs1572914265
NM_001378454.1(ALMS1):c.7854C>T (p.Asn2618=)
NM_001378454.1(ALMS1):c.7863A>G (p.Ser2621=)
NM_001378454.1(ALMS1):c.7866C>T (p.Cys2622=)
NM_001378454.1(ALMS1):c.7887T>C (p.Leu2629=)
NM_001378454.1(ALMS1):c.7887T>G (p.Leu2629=) rs1277528063
NM_001378454.1(ALMS1):c.7890T>C (p.Ser2630=)
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=) rs2103889947
NM_001378454.1(ALMS1):c.7908C>T (p.Asn2636=)
NM_001378454.1(ALMS1):c.7911C>T (p.Asn2637=) rs751995271
NM_001378454.1(ALMS1):c.7926T>A (p.Val2642=) rs749406009
NM_001378454.1(ALMS1):c.792T>C (p.Thr264=)
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=) rs2103890063
NM_001378454.1(ALMS1):c.7956C>T (p.Ser2652=) rs2103890112
NM_001378454.1(ALMS1):c.7986C>T (p.Phe2662=)
NM_001378454.1(ALMS1):c.7998A>G (p.Lys2666=)
NM_001378454.1(ALMS1):c.8013A>C (p.Pro2671=) rs1672940803
NM_001378454.1(ALMS1):c.801T>G (p.Ser267=) rs2103714530
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=) rs754078506
NM_001378454.1(ALMS1):c.8043A>G (p.Ser2681=)
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=) rs2103890442
NM_001378454.1(ALMS1):c.8061T>A (p.Ala2687=)
NM_001378454.1(ALMS1):c.8070A>G (p.Pro2690=)
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=) rs2103714566
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=) rs2103714585
NM_001378454.1(ALMS1):c.8127A>G (p.Lys2709=) rs766713925
NM_001378454.1(ALMS1):c.8130G>A (p.Lys2710=)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=) rs2103890785
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) rs1572969339
NM_001378454.1(ALMS1):c.8154A>G (p.Ser2718=)
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=) rs756062297
NM_001378454.1(ALMS1):c.8178T>C (p.Ile2726=) rs773943182
NM_001378454.1(ALMS1):c.8205T>G (p.Gly2735=) rs2103891015
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=) rs920410396
NM_001378454.1(ALMS1):c.8223G>A (p.Gln2741=)
NM_001378454.1(ALMS1):c.8229T>A (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8229T>C (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8235A>G (p.Ala2745=)
NM_001378454.1(ALMS1):c.8241G>A (p.Val2747=)
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8250T>C (p.Phe2750=)
NM_001378454.1(ALMS1):c.8256T>G (p.Ser2752=) rs2103891214
NM_001378454.1(ALMS1):c.8259T>C (p.His2753=)
NM_001378454.1(ALMS1):c.8286A>G (p.Arg2762=) rs2103891320
NM_001378454.1(ALMS1):c.8298G>A (p.Gln2766=)
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=) rs2103891364
NM_001378454.1(ALMS1):c.8304C>G (p.Thr2768=)
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=) rs2103891385
NM_001378454.1(ALMS1):c.8316A>G (p.Ser2772=)
NM_001378454.1(ALMS1):c.8316A>T (p.Ser2772=) rs777224319
NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=) rs2103891552
NM_001378454.1(ALMS1):c.8376A>G (p.Arg2792=)
NM_001378454.1(ALMS1):c.8388A>G (p.Gln2796=)
NM_001378454.1(ALMS1):c.8391A>G (p.Lys2797=) rs2103891688
NM_001378454.1(ALMS1):c.8392T>C (p.Leu2798=)
NM_001378454.1(ALMS1):c.8394A>G (p.Leu2798=)
NM_001378454.1(ALMS1):c.840T>C (p.Ala280=) rs2103714655
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=) rs1041301597
NM_001378454.1(ALMS1):c.8466T>G (p.Ser2822=)
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=) rs2103891896
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.8490T>C (p.Cys2830=)
NM_001378454.1(ALMS1):c.849A>G (p.Glu283=)
NM_001378454.1(ALMS1):c.8505A>G (p.Glu2835=)
NM_001378454.1(ALMS1):c.8538C>T (p.Ser2846=) rs2103892193
NM_001378454.1(ALMS1):c.8550A>G (p.Pro2850=) rs1672956807
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=) rs201560634
NM_001378454.1(ALMS1):c.8560C>T (p.Leu2854=) rs765176591
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=) rs2103892303
NM_001378454.1(ALMS1):c.8565A>T (p.Gly2855=)
NM_001378454.1(ALMS1):c.8568A>G (p.Val2856=)
NM_001378454.1(ALMS1):c.8574A>G (p.Arg2858=) rs1489673662
NM_001378454.1(ALMS1):c.8592A>C (p.Gly2864=)
NM_001378454.1(ALMS1):c.8604G>A (p.Lys2868=)
NM_001378454.1(ALMS1):c.8613T>C (p.Thr2871=) rs1672958479
NM_001378454.1(ALMS1):c.8622A>C (p.Pro2874=) rs748474795
NM_001378454.1(ALMS1):c.8643T>C (p.Phe2881=)
NM_001378454.1(ALMS1):c.8658G>A (p.Glu2886=) rs555256551
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=) rs2103892697
NM_001378454.1(ALMS1):c.8667A>G (p.Glu2889=) rs2103892726
NM_001378454.1(ALMS1):c.8670A>G (p.Gln2890=)
NM_001378454.1(ALMS1):c.8694C>T (p.Asp2898=) rs2103892855
NM_001378454.1(ALMS1):c.8697T>C (p.His2899=) rs1280810980
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=) rs2103892882
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=) rs2103893096
NM_001378454.1(ALMS1):c.8754T>A (p.Leu2918=)
NM_001378454.1(ALMS1):c.8757T>C (p.Pro2919=) rs760452285
NM_001378454.1(ALMS1):c.8757T>G (p.Pro2919=)
NM_001378454.1(ALMS1):c.8763C>T (p.Cys2921=)
NM_001378454.1(ALMS1):c.876C>G (p.Arg292=)
NM_001378454.1(ALMS1):c.8796G>A (p.Gln2932=)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=) rs2103893317
NM_001378454.1(ALMS1):c.87T>A (p.Ala29=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=) rs781220396
NM_001378454.1(ALMS1):c.8808A>G (p.Pro2936=)
NM_001378454.1(ALMS1):c.8820T>C (p.His2940=)
NM_001378454.1(ALMS1):c.8823A>G (p.Gln2941=)
NM_001378454.1(ALMS1):c.8829A>G (p.Arg2943=)
NM_001378454.1(ALMS1):c.8835C>T (p.Asn2945=)
NM_001378454.1(ALMS1):c.8847T>C (p.Leu2949=)
NM_001378454.1(ALMS1):c.8850T>A (p.Pro2950=)
NM_001378454.1(ALMS1):c.8853A>G (p.Gln2951=)
NM_001378454.1(ALMS1):c.8859G>A (p.Gln2953=) rs2103893646
NM_001378454.1(ALMS1):c.885A>G (p.Val295=)
NM_001378454.1(ALMS1):c.8874A>G (p.Ser2958=)
NM_001378454.1(ALMS1):c.8883G>C (p.Pro2961=)
NM_001378454.1(ALMS1):c.8889C>T (p.Pro2963=) rs145029950
NM_001378454.1(ALMS1):c.888T>C (p.Ser296=)
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8919G>C (p.Ala2973=)
NM_001378454.1(ALMS1):c.8919G>T (p.Ala2973=)
NM_001378454.1(ALMS1):c.891G>A (p.Gln297=)
NM_001378454.1(ALMS1):c.8922A>G (p.Pro2974=)
NM_001378454.1(ALMS1):c.8934C>T (p.Asp2978=)
NM_001378454.1(ALMS1):c.8946A>G (p.Lys2982=) rs762397764
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=) rs1478666857
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile) rs45566838
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=) rs753980616
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=) rs2103714886
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9045G>A (p.Lys3015=)
NM_001378454.1(ALMS1):c.9057G>A (p.Val3019=)
NM_001378454.1(ALMS1):c.9063C>G (p.Ser3021=)
NM_001378454.1(ALMS1):c.9066G>A (p.Gln3022=)
NM_001378454.1(ALMS1):c.9069A>C (p.Ser3023=) rs1672973190
NM_001378454.1(ALMS1):c.906C>T (p.Gly302=)
NM_001378454.1(ALMS1):c.9099T>C (p.Ser3033=)
NM_001378454.1(ALMS1):c.90A>C (p.Ala30=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=) rs1420916551
NM_001378454.1(ALMS1):c.9108T>C (p.Thr3036=)
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=) rs1672974409
NM_001378454.1(ALMS1):c.9135T>C (p.Ser3045=)
NM_001378454.1(ALMS1):c.9144T>C (p.His3048=) rs2103894899
NM_001378454.1(ALMS1):c.9156T>C (p.Cys3052=) rs2103894955
NM_001378454.1(ALMS1):c.9159C>A (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>G (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>T (p.Pro3053=)
NM_001378454.1(ALMS1):c.915T>C (p.Ala305=)
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=) rs1268306031
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=) rs1572970568
NM_001378454.1(ALMS1):c.918T>A (p.Val306=)
NM_001378454.1(ALMS1):c.9192A>G (p.Leu3064=)
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9211T>C (p.Leu3071=) rs2103895155
NM_001378454.1(ALMS1):c.9232A>C (p.Arg3078=) rs2103895260
NM_001378454.1(ALMS1):c.9240T>C (p.Asn3080=)
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=) rs1237573573
NM_001378454.1(ALMS1):c.9267T>C (p.Thr3089=) rs2103895383
NM_001378454.1(ALMS1):c.9270A>G (p.Val3090=)
NM_001378454.1(ALMS1):c.9270A>T (p.Val3090=) rs779871507
NM_001378454.1(ALMS1):c.9303A>G (p.Leu3101=)
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=) rs537370242
NM_001378454.1(ALMS1):c.9306G>A (p.Leu3102=) rs747617053
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=) rs1319009177
NM_001378454.1(ALMS1):c.930C>T (p.Cys310=)
NM_001378454.1(ALMS1):c.9318T>A (p.Pro3106=) rs771679163
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=) rs773082101
NM_001378454.1(ALMS1):c.9342A>G (p.Leu3114=) rs759935236
NM_001378454.1(ALMS1):c.9351A>G (p.Leu3117=) rs1672980633
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=) rs2103895759
NM_001378454.1(ALMS1):c.9367C>T (p.Leu3123=)
NM_001378454.1(ALMS1):c.9381C>G (p.Val3127=)
NM_001378454.1(ALMS1):c.9393T>C (p.Ser3131=)
NM_001378454.1(ALMS1):c.9399A>G (p.Pro3133=)
NM_001378454.1(ALMS1):c.9402C>T (p.Asp3134=) rs2103895948
NM_001378454.1(ALMS1):c.9411T>C (p.Thr3137=) rs985056937
NM_001378454.1(ALMS1):c.9414T>C (p.Ile3138=)
NM_001378454.1(ALMS1):c.9423C>T (p.Asp3141=)
NM_001378454.1(ALMS1):c.9426G>A (p.Leu3142=)
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=) rs1398748602
NM_001378454.1(ALMS1):c.9468G>A (p.Arg3156=)
NM_001378454.1(ALMS1):c.9471A>G (p.Gln3157=) rs1273315356
NM_001378454.1(ALMS1):c.9489A>G (p.Ser3163=)
NM_001378454.1(ALMS1):c.9507C>A (p.Ser3169=) rs2103896514
NM_001378454.1(ALMS1):c.9507C>T (p.Ser3169=)
NM_001378454.1(ALMS1):c.9510T>C (p.Asn3170=) rs1418366803
NM_001378454.1(ALMS1):c.9522C>A (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9539+10A>C
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+10_9539+12del rs1572970962
NM_001378454.1(ALMS1):c.9539+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+13G>T
NM_001378454.1(ALMS1):c.9539+16A>C
NM_001378454.1(ALMS1):c.9539+18A>G
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9539+7C>T
NM_001378454.1(ALMS1):c.9540-13_9540-12del rs2103961762
NM_001378454.1(ALMS1):c.9540-15C>G
NM_001378454.1(ALMS1):c.9540-15C>T
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-18T>G
NM_001378454.1(ALMS1):c.9546A>G (p.Pro3182=) rs2103961813
NM_001378454.1(ALMS1):c.9549G>A (p.Glu3183=)
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=) rs1398767200
NM_001378454.1(ALMS1):c.9573T>C (p.Ala3191=) rs2103961933
NM_001378454.1(ALMS1):c.9576C>T (p.Phe3192=)
NM_001378454.1(ALMS1):c.9594T>C (p.Ser3198=)
NM_001378454.1(ALMS1):c.9603C>T (p.Val3201=)
NM_001378454.1(ALMS1):c.960T>C (p.Asn320=)
NM_001378454.1(ALMS1):c.9615A>G (p.Thr3205=) rs2103962093
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9645A>T (p.Ser3215=)
NM_001378454.1(ALMS1):c.9666T>C (p.Ala3222=)
NM_001378454.1(ALMS1):c.9666T>G (p.Ala3222=) rs1264120847
NM_001378454.1(ALMS1):c.9675T>C (p.Arg3225=)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=) rs1175450599
NM_001378454.1(ALMS1):c.9696T>C (p.Pro3232=)
NM_001378454.1(ALMS1):c.9699T>C (p.Gly3233=)
NM_001378454.1(ALMS1):c.96G>A (p.Ala32=)
NM_001378454.1(ALMS1):c.9702C>T (p.Asn3234=)
NM_001378454.1(ALMS1):c.9720T>A (p.Ala3240=) rs2103962507
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=) rs2103962527
NM_001378454.1(ALMS1):c.972T>C (p.Ile324=)
NM_001378454.1(ALMS1):c.9735C>T (p.Ala3245=)
NM_001378454.1(ALMS1):c.9738A>C (p.Ser3246=)
NM_001378454.1(ALMS1):c.9738A>G (p.Ser3246=)
NM_001378454.1(ALMS1):c.9744T>G (p.Ser3248=)
NM_001378454.1(ALMS1):c.9747A>C (p.Ser3249=)
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=) rs2103962624
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9765T>C (p.Phe3255=)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=) rs758325542
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+17G>A rs1673645390
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9781+7G>A
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-18T>G rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9782-8del
NM_001378454.1(ALMS1):c.9783C>A (p.Gly3261=) rs2103991992
NM_001378454.1(ALMS1):c.9796T>C (p.Leu3266=) rs2103992030
NM_001378454.1(ALMS1):c.9801A>C (p.Pro3267=)
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=) rs1673992639
NM_001378454.1(ALMS1):c.9804T>C (p.Tyr3268=) rs368412850
NM_001378454.1(ALMS1):c.9810T>C (p.Pro3270=)
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=) rs201446579
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=) rs1392755260
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9847A>C (p.Arg3283=) rs1224859058
NM_001378454.1(ALMS1):c.9858T>A (p.Pro3286=) rs2103992260
NM_001378454.1(ALMS1):c.9861A>C (p.Pro3287=)
NM_001378454.1(ALMS1):c.9867G>C (p.Pro3289=)
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=) rs1673994711
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=) rs1673995110
NM_001378454.1(ALMS1):c.9879A>G (p.Ser3293=) rs2103992339
NM_001378454.1(ALMS1):c.9888C>G (p.Thr3296=)
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9907+11G>A
NM_001378454.1(ALMS1):c.9907+16T>C
NM_001378454.1(ALMS1):c.9907+17A>G rs772675597
NM_001378454.1(ALMS1):c.9907+17A>T rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+7T>C rs375870610
NM_001378454.1(ALMS1):c.9908-10T>A
NM_001378454.1(ALMS1):c.9908-10T>G
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-16C>A
NM_001378454.1(ALMS1):c.9908-4G>A
NM_001378454.1(ALMS1):c.9908-5T>G
NM_001378454.1(ALMS1):c.9908-6C>T rs1553416191
NM_001378454.1(ALMS1):c.9939A>G (p.Pro3313=)
NM_001378454.1(ALMS1):c.993A>G (p.Lys331=)
NM_001378454.1(ALMS1):c.9945G>A (p.Gln3315=)
NM_001378454.1(ALMS1):c.9948G>A (p.Val3316=)
NM_001378454.1(ALMS1):c.9951A>G (p.Leu3317=) rs1573013141
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001378454.1(ALMS1):c.9972C>T (p.Leu3324=)
NM_001378454.1(ALMS1):c.9978C>T (p.Ala3326=)
NM_001378454.1(ALMS1):c.9981T>C (p.Thr3327=)
NM_001378454.1(ALMS1):c.9999A>G (p.Lys3333=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=) rs570180164
NM_001378615.1(CC2D2A):c.1002G>A (p.Leu334=)
NM_001378615.1(CC2D2A):c.1005G>A (p.Leu335=)
NM_001378615.1(CC2D2A):c.1014C>T (p.Asp338=)
NM_001378615.1(CC2D2A):c.1017+11A>G
NM_001378615.1(CC2D2A):c.1017+12C>T
NM_001378615.1(CC2D2A):c.1017+13C>T
NM_001378615.1(CC2D2A):c.1017+14C>T
NM_001378615.1(CC2D2A):c.1017+19C>T
NM_001378615.1(CC2D2A):c.1017+7G>T rs137919504
NM_001378615.1(CC2D2A):c.1018-14T>C
NM_001378615.1(CC2D2A):c.1018-18C>T
NM_001378615.1(CC2D2A):c.1018-20T>A
NM_001378615.1(CC2D2A):c.1018-5T>G rs2109013647
NM_001378615.1(CC2D2A):c.1018-6C>G
NM_001378615.1(CC2D2A):c.1018-6del rs2109013642
NM_001378615.1(CC2D2A):c.1018-9C>T
NM_001378615.1(CC2D2A):c.1026A>G (p.Arg342=)
NM_001378615.1(CC2D2A):c.1035A>C (p.Gly345=)
NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=)
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=) rs2109013744
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=) rs774216288
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=) rs1289826078
NM_001378615.1(CC2D2A):c.1117A>G (p.Ile373Val)
NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)
NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)
NM_001378615.1(CC2D2A):c.1126G>C (p.Glu376Gln)
NM_001378615.1(CC2D2A):c.1127_1128delinsCA (p.Glu376Ala)
NM_001378615.1(CC2D2A):c.1149+10C>T rs752000548
NM_001378615.1(CC2D2A):c.1149+15C>A
NM_001378615.1(CC2D2A):c.1149+19C>A
NM_001378615.1(CC2D2A):c.1149+19C>T
NM_001378615.1(CC2D2A):c.1150-13C>G
NM_001378615.1(CC2D2A):c.1150-13C>T
NM_001378615.1(CC2D2A):c.1150-15dup
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)
NM_001378615.1(CC2D2A):c.1182G>A (p.Val394=)
NM_001378615.1(CC2D2A):c.1182G>C (p.Val394=)
NM_001378615.1(CC2D2A):c.1188A>G (p.Arg396=) rs2109023994
NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=) rs940435544
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
NM_001378615.1(CC2D2A):c.123+16A>G
NM_001378615.1(CC2D2A):c.123+23_123+24del rs960925783
NM_001378615.1(CC2D2A):c.123+9T>A
NM_001378615.1(CC2D2A):c.1236G>C (p.Gly412=)
NM_001378615.1(CC2D2A):c.124-13C>T
NM_001378615.1(CC2D2A):c.124-14C>A
NM_001378615.1(CC2D2A):c.124-18C>T rs1162714204
NM_001378615.1(CC2D2A):c.124-9T>C
NM_001378615.1(CC2D2A):c.124-9_124-7del
NM_001378615.1(CC2D2A):c.1275T>C (p.His425=)
NM_001378615.1(CC2D2A):c.1281G>A (p.Leu427=)
NM_001378615.1(CC2D2A):c.1287C>A (p.Ala429=)
NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
NM_001378615.1(CC2D2A):c.1359+14C>A
NM_001378615.1(CC2D2A):c.1359+14C>T
NM_001378615.1(CC2D2A):c.1359+19A>T
NM_001378615.1(CC2D2A):c.1359+7G>T
NM_001378615.1(CC2D2A):c.1359+9G>T rs369964702
NM_001378615.1(CC2D2A):c.1360-12T>A rs1717637000
NM_001378615.1(CC2D2A):c.1360-13A>G
NM_001378615.1(CC2D2A):c.1360-15C>G
NM_001378615.1(CC2D2A):c.1360-8G>A
NM_001378615.1(CC2D2A):c.1360-9C>T
NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=)
NM_001378615.1(CC2D2A):c.1377T>C (p.Asn459=)
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=) rs755258233
NM_001378615.1(CC2D2A):c.1392C>G (p.Gly464=)
NM_001378615.1(CC2D2A):c.1392C>T (p.Gly464=)
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=) rs377448964
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=) rs2109025199
NM_001378615.1(CC2D2A):c.1466+13T>C
NM_001378615.1(CC2D2A):c.1466+14_1466+16del rs751142207
NM_001378615.1(CC2D2A):c.1467-11A>G
NM_001378615.1(CC2D2A):c.1467-13T>C
NM_001378615.1(CC2D2A):c.1467-14A>G
NM_001378615.1(CC2D2A):c.1467-17G>A
NM_001378615.1(CC2D2A):c.1467-17G>T
NM_001378615.1(CC2D2A):c.1467-20T>C
NM_001378615.1(CC2D2A):c.1467-21_1467-20del
NM_001378615.1(CC2D2A):c.1467-4G>A
NM_001378615.1(CC2D2A):c.1467-7C>T rs2109029775
NM_001378615.1(CC2D2A):c.1485T>C (p.Arg495=)
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys) rs765810643
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
NM_001378615.1(CC2D2A):c.1551A>G (p.Lys517=)
NM_001378615.1(CC2D2A):c.1554C>G (p.Ser518=)
NM_001378615.1(CC2D2A):c.1557T>G (p.Leu519=)
NM_001378615.1(CC2D2A):c.1607+19T>G
NM_001378615.1(CC2D2A):c.1607+24_1607+28del rs2109029956
NM_001378615.1(CC2D2A):c.1608-18C>A rs1303472925
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) rs794727713
NM_001378615.1(CC2D2A):c.1677G>A (p.Leu559=) rs1560170993
NM_001378615.1(CC2D2A):c.1680A>G (p.Leu560=) rs1410261022
NM_001378615.1(CC2D2A):c.1692G>A (p.Thr564=)
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
NM_001378615.1(CC2D2A):c.1764+10C>T
NM_001378615.1(CC2D2A):c.1764+13A>C
NM_001378615.1(CC2D2A):c.1764+17T>A
NM_001378615.1(CC2D2A):c.1764+18C>T rs1718172963
NM_001378615.1(CC2D2A):c.1765-10A>T
NM_001378615.1(CC2D2A):c.1765-12C>G
NM_001378615.1(CC2D2A):c.1765-13_1765-9del
NM_001378615.1(CC2D2A):c.1765-17T>G
NM_001378615.1(CC2D2A):c.1765-20T>C rs1718218659
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
NM_001378615.1(CC2D2A):c.1812T>A (p.Gly604=)
NM_001378615.1(CC2D2A):c.1812T>C (p.Gly604=)
NM_001378615.1(CC2D2A):c.1824A>T (p.Ala608=)
NM_001378615.1(CC2D2A):c.1863T>A (p.Pro621=)
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=) rs1293349023
NM_001378615.1(CC2D2A):c.1929G>A (p.Arg643=)
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1950G>A (p.Leu650=)
NM_001378615.1(CC2D2A):c.1953C>G (p.Val651=)
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=) rs2109035405
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=)
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
NM_001378615.1(CC2D2A):c.2003+12C>T
NM_001378615.1(CC2D2A):c.2003+14C>T
NM_001378615.1(CC2D2A):c.2003+15C>A
NM_001378615.1(CC2D2A):c.2003+16G>C
NM_001378615.1(CC2D2A):c.2003+19C>A
NM_001378615.1(CC2D2A):c.2003+20G>A
NM_001378615.1(CC2D2A):c.2004-6T>C
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
NM_001378615.1(CC2D2A):c.2076G>A (p.Glu692=)
NM_001378615.1(CC2D2A):c.2079G>A (p.Val693=) rs1348040937
NM_001378615.1(CC2D2A):c.2085G>A (p.Arg695=)
NM_001378615.1(CC2D2A):c.2106A>G (p.Gly702=)
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
NM_001378615.1(CC2D2A):c.2127T>C (p.Phe709=)
NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=)
NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=) rs2108973641
NM_001378615.1(CC2D2A):c.2154C>T (p.Val718=)
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
NM_001378615.1(CC2D2A):c.2181+15T>C
NM_001378615.1(CC2D2A):c.2181+17T>G rs1016233369
NM_001378615.1(CC2D2A):c.2181+19G>A
NM_001378615.1(CC2D2A):c.2181+19G>T
NM_001378615.1(CC2D2A):c.2181+20T>C
NM_001378615.1(CC2D2A):c.2182-11C>T
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
NM_001378615.1(CC2D2A):c.2182-4T>C
NM_001378615.1(CC2D2A):c.2182-8G>C
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.2187T>C (p.Tyr729=)
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=) rs764246302
NM_001378615.1(CC2D2A):c.2253T>C (p.Thr751=)
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
NM_001378615.1(CC2D2A):c.2338+14A>G
NM_001378615.1(CC2D2A):c.2338+14del rs1560178133
NM_001378615.1(CC2D2A):c.2339-10G>A
NM_001378615.1(CC2D2A):c.2339-12G>A
NM_001378615.1(CC2D2A):c.2339-12G>C
NM_001378615.1(CC2D2A):c.2339-4C>A rs2109052944
NM_001378615.1(CC2D2A):c.2339-4_2339-3dup
NM_001378615.1(CC2D2A):c.2339-5C>T
NM_001378615.1(CC2D2A):c.2339-7del
NM_001378615.1(CC2D2A):c.2339-9T>C
NM_001378615.1(CC2D2A):c.2367C>A (p.Gly789=)
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=) rs1577370765
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
NM_001378615.1(CC2D2A):c.247+12T>G
NM_001378615.1(CC2D2A):c.247+13C>T
NM_001378615.1(CC2D2A):c.247+18A>G
NM_001378615.1(CC2D2A):c.247+9C>G
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
NM_001378615.1(CC2D2A):c.248-8T>C
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
NM_001378615.1(CC2D2A):c.2484G>A (p.Arg828=)
NM_001378615.1(CC2D2A):c.2486+13A>G
NM_001378615.1(CC2D2A):c.2486+17G>C
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2487-4T>G rs900632187
NM_001378615.1(CC2D2A):c.2487-8C>A
NM_001378615.1(CC2D2A):c.2493G>A (p.Leu831=)
NM_001378615.1(CC2D2A):c.2514A>G (p.Ser838=)
NM_001378615.1(CC2D2A):c.2523C>T (p.Gly841=)
NM_001378615.1(CC2D2A):c.2529A>C (p.Ser843=)
NM_001378615.1(CC2D2A):c.2551T>C (p.Leu851=)
NM_001378615.1(CC2D2A):c.2604C>A (p.Ala868=) rs763477348
NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=) rs763477348
NM_001378615.1(CC2D2A):c.2610G>A (p.Leu870=)
NM_001378615.1(CC2D2A):c.2625+12_2625+13insTCA
NM_001378615.1(CC2D2A):c.2625+14G>A
NM_001378615.1(CC2D2A):c.2625+14_2625+19del
NM_001378615.1(CC2D2A):c.2625+15_2625+24del
NM_001378615.1(CC2D2A):c.2625+19A>G
NM_001378615.1(CC2D2A):c.2625+19A>T
NM_001378615.1(CC2D2A):c.2625+7A>G
NM_001378615.1(CC2D2A):c.2625+9C>G
NM_001378615.1(CC2D2A):c.2625+9C>T
NM_001378615.1(CC2D2A):c.2626-18A>G
NM_001378615.1(CC2D2A):c.2626-4A>G
NM_001378615.1(CC2D2A):c.2626-6T>C
NM_001378615.1(CC2D2A):c.2634C>A (p.Thr878=)
NM_001378615.1(CC2D2A):c.2640T>C (p.Gly880=)
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=) rs2109058103
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
NM_001378615.1(CC2D2A):c.2829+15T>C
NM_001378615.1(CC2D2A):c.2829+18del
NM_001378615.1(CC2D2A):c.2829+20G>T
NM_001378615.1(CC2D2A):c.2830-14C>T
NM_001378615.1(CC2D2A):c.2830-16C>A
NM_001378615.1(CC2D2A):c.2830-18G>T
NM_001378615.1(CC2D2A):c.2830-20T>C
NM_001378615.1(CC2D2A):c.2830-8A>T
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=) rs1719439232
NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)
NM_001378615.1(CC2D2A):c.2859T>C (p.Asn953=)
NM_001378615.1(CC2D2A):c.2871C>G (p.Thr957=)
NM_001378615.1(CC2D2A):c.2874G>A (p.Lys958=)
NM_001378615.1(CC2D2A):c.2877A>G (p.Glu959=)
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=) rs2109060199
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
NM_001378615.1(CC2D2A):c.2922+13A>T
NM_001378615.1(CC2D2A):c.2922+14T>C
NM_001378615.1(CC2D2A):c.2922+17A>G
NM_001378615.1(CC2D2A):c.2922+20A>G
NM_001378615.1(CC2D2A):c.2923-10C>A
NM_001378615.1(CC2D2A):c.2923-12T>C
NM_001378615.1(CC2D2A):c.2923-13T>C
NM_001378615.1(CC2D2A):c.2923-3del
NM_001378615.1(CC2D2A):c.2923-5C>T rs758867115
NM_001378615.1(CC2D2A):c.2923-6C>A
NM_001378615.1(CC2D2A):c.2925T>C (p.Val975=)
NM_001378615.1(CC2D2A):c.2928A>G (p.Arg976=)
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
NM_001378615.1(CC2D2A):c.294T>C (p.Phe98=)
NM_001378615.1(CC2D2A):c.2961A>G (p.Lys987=)
NM_001378615.1(CC2D2A):c.2964A>G (p.Gln988=)
NM_001378615.1(CC2D2A):c.2970T>C (p.Phe990=)
NM_001378615.1(CC2D2A):c.2982T>C (p.Asp994=)
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=) rs2109061736
NM_001378615.1(CC2D2A):c.3014+10A>C
NM_001378615.1(CC2D2A):c.3014+10del
NM_001378615.1(CC2D2A):c.3014+11_3014+14del rs1181395692
NM_001378615.1(CC2D2A):c.3014+16G>A
NM_001378615.1(CC2D2A):c.3014+18_3014+21del
NM_001378615.1(CC2D2A):c.3014+19A>T
NM_001378615.1(CC2D2A):c.3014+20T>C
NM_001378615.1(CC2D2A):c.3014+24_3014+26del rs780647289
NM_001378615.1(CC2D2A):c.3014+8T>C rs1410013441
NM_001378615.1(CC2D2A):c.3015-14T>C
NM_001378615.1(CC2D2A):c.3015-19C>G
NM_001378615.1(CC2D2A):c.3015-5A>G
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=) rs2109065234
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
NM_001378615.1(CC2D2A):c.3180G>A (p.Val1060=)
NM_001378615.1(CC2D2A):c.3182+10C>T
NM_001378615.1(CC2D2A):c.3182+13C>A
NM_001378615.1(CC2D2A):c.3183-12T>G
NM_001378615.1(CC2D2A):c.3183-20T>G
NM_001378615.1(CC2D2A):c.3183-5C>A
NM_001378615.1(CC2D2A):c.3183-5C>G
NM_001378615.1(CC2D2A):c.3207T>G (p.Ser1069=)
NM_001378615.1(CC2D2A):c.3213G>A (p.Arg1071=) rs2109070172
NM_001378615.1(CC2D2A):c.322T>C (p.Leu108=)
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
NM_001378615.1(CC2D2A):c.3276C>T (p.Tyr1092=)
NM_001378615.1(CC2D2A):c.3279C>T (p.Pro1093=) rs1302080963
NM_001378615.1(CC2D2A):c.3282C>G (p.Leu1094=)
NM_001378615.1(CC2D2A):c.3288+12T>A
NM_001378615.1(CC2D2A):c.3288+12T>C
NM_001378615.1(CC2D2A):c.3288+16C>A
NM_001378615.1(CC2D2A):c.3288+9T>C
NM_001378615.1(CC2D2A):c.3289-15G>C rs2109070538
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3336C>T (p.Cys1112=)
NM_001378615.1(CC2D2A):c.3342G>A (p.Thr1114=)
NM_001378615.1(CC2D2A):c.334A>C (p.Arg112=) rs2108998391
NM_001378615.1(CC2D2A):c.336+14C>T
NM_001378615.1(CC2D2A):c.336+15A>G rs2108998411
NM_001378615.1(CC2D2A):c.336+17G>A
NM_001378615.1(CC2D2A):c.336+19A>G
NM_001378615.1(CC2D2A):c.336+20T>C
NM_001378615.1(CC2D2A):c.336+3GA[2]
NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=) rs2109070685
NM_001378615.1(CC2D2A):c.3369C>T (p.Ser1123=)
NM_001378615.1(CC2D2A):c.337-12T>C
NM_001378615.1(CC2D2A):c.337-14G>T
NM_001378615.1(CC2D2A):c.337-18T>C
NM_001378615.1(CC2D2A):c.337-7T>C
NM_001378615.1(CC2D2A):c.3398+18T>C
NM_001378615.1(CC2D2A):c.3398+19T>C
NM_001378615.1(CC2D2A):c.3398+7A>T
NM_001378615.1(CC2D2A):c.3398+7del
NM_001378615.1(CC2D2A):c.3398+9A>G
NM_001378615.1(CC2D2A):c.3399-12G>A
NM_001378615.1(CC2D2A):c.3399-12G>C
NM_001378615.1(CC2D2A):c.3399-14G>A
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=)
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
NM_001378615.1(CC2D2A):c.3453G>A (p.Val1151=)
NM_001378615.1(CC2D2A):c.3456C>T (p.Phe1152=) rs2109072690
NM_001378615.1(CC2D2A):c.3465T>A (p.Ile1155=)
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=)
NM_001378615.1(CC2D2A):c.3478C>T (p.Leu1160=) rs776074900
NM_001378615.1(CC2D2A):c.3480G>A (p.Leu1160=)
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=)
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=)
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=)
NM_001378615.1(CC2D2A):c.3495+11A>C
NM_001378615.1(CC2D2A):c.3495+11A>G rs2109072768
NM_001378615.1(CC2D2A):c.3495+12G>C
NM_001378615.1(CC2D2A):c.3495+15T>C
NM_001378615.1(CC2D2A):c.3495+20A>G
NM_001378615.1(CC2D2A):c.3496-11C>A
NM_001378615.1(CC2D2A):c.3496-11C>G
NM_001378615.1(CC2D2A):c.3496-14C>T
NM_001378615.1(CC2D2A):c.3496-15C>T
NM_001378615.1(CC2D2A):c.3496-18T>C
NM_001378615.1(CC2D2A):c.3496-19C>T
NM_001378615.1(CC2D2A):c.3496-20A>G rs1720099977
NM_001378615.1(CC2D2A):c.3496-7C>T
NM_001378615.1(CC2D2A):c.3496-8del
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=) rs2109073915
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=) rs953629205
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
NM_001378615.1(CC2D2A):c.3594+11A>G
NM_001378615.1(CC2D2A):c.3594+14G>A
NM_001378615.1(CC2D2A):c.3594+9C>G
NM_001378615.1(CC2D2A):c.3595-12T>C
NM_001378615.1(CC2D2A):c.3595-13A>G
NM_001378615.1(CC2D2A):c.3595-15A>G
NM_001378615.1(CC2D2A):c.3595-15A>T
NM_001378615.1(CC2D2A):c.3595-4A>T
NM_001378615.1(CC2D2A):c.3595-5C>G
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln)
NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=)
NM_001378615.1(CC2D2A):c.3684T>C (p.Ser1228=)
NM_001378615.1(CC2D2A):c.369C>A (p.Ile123=)
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
NM_001378615.1(CC2D2A):c.3771+12T>C
NM_001378615.1(CC2D2A):c.3771+13A>G
NM_001378615.1(CC2D2A):c.3771+16T>G
NM_001378615.1(CC2D2A):c.3771+7A>C
NM_001378615.1(CC2D2A):c.3771+8C>T
NM_001378615.1(CC2D2A):c.3772-10C>T
NM_001378615.1(CC2D2A):c.3772-11dup
NM_001378615.1(CC2D2A):c.3772-14C>T
NM_001378615.1(CC2D2A):c.3772-16G>A
NM_001378615.1(CC2D2A):c.3772-7T>C rs2109083258
NM_001378615.1(CC2D2A):c.3777G>A (p.Glu1259=)
NM_001378615.1(CC2D2A):c.3780T>A (p.Ser1260=)
NM_001378615.1(CC2D2A):c.3783G>A (p.Gln1261=)
NM_001378615.1(CC2D2A):c.3789T>C (p.Asp1263=)
NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=)
NM_001378615.1(CC2D2A):c.3834C>G (p.Ala1278=) rs751897663
NM_001378615.1(CC2D2A):c.3834C>T (p.Ala1278=)
NM_001378615.1(CC2D2A):c.3837A>G (p.Leu1279=) rs1560192604
NM_001378615.1(CC2D2A):c.3861T>G (p.Leu1287=)
NM_001378615.1(CC2D2A):c.3870A>G (p.Val1290=)
NM_001378615.1(CC2D2A):c.3873T>C (p.Ile1291=)
NM_001378615.1(CC2D2A):c.3882C>T (p.Ser1294=)
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
NM_001378615.1(CC2D2A):c.39+10C>A
NM_001378615.1(CC2D2A):c.39+16G>C
NM_001378615.1(CC2D2A):c.39+20T>C
NM_001378615.1(CC2D2A):c.3900C>T (p.Ile1300=) rs2109083429
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=) rs2109083467
NM_001378615.1(CC2D2A):c.3975+11C>A
NM_001378615.1(CC2D2A):c.3975+12A>G
NM_001378615.1(CC2D2A):c.3975+17C>G rs2109083516
NM_001378615.1(CC2D2A):c.3975+19del
NM_001378615.1(CC2D2A):c.3975+19dup
NM_001378615.1(CC2D2A):c.3975+8T>C
NM_001378615.1(CC2D2A):c.3976-14T>C
NM_001378615.1(CC2D2A):c.3976-5T>C
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
NM_001378615.1(CC2D2A):c.3993T>C (p.Tyr1331=)
NM_001378615.1(CC2D2A):c.40-13C>T
NM_001378615.1(CC2D2A):c.40-18T>G
NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=)
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
NM_001378615.1(CC2D2A):c.4050C>G (p.Leu1350=)
NM_001378615.1(CC2D2A):c.4059A>G (p.Thr1353=)
NM_001378615.1(CC2D2A):c.4065+10_4065+11delinsAG rs2109088612
NM_001378615.1(CC2D2A):c.4065+11C>T
NM_001378615.1(CC2D2A):c.4065+12T>G
NM_001378615.1(CC2D2A):c.4065+18A>G
NM_001378615.1(CC2D2A):c.4065+8G>A
NM_001378615.1(CC2D2A):c.4065+9TTC[2] rs755600533
NM_001378615.1(CC2D2A):c.4066-10T>C
NM_001378615.1(CC2D2A):c.4066-11C>A rs1412529846
NM_001378615.1(CC2D2A):c.4066-11_4066-10del
NM_001378615.1(CC2D2A):c.4066-16T>G
NM_001378615.1(CC2D2A):c.4066-20T>A
NM_001378615.1(CC2D2A):c.4066-20T>C
NM_001378615.1(CC2D2A):c.4066-20T>G rs1174030292
NM_001378615.1(CC2D2A):c.408G>A (p.Lys136=)
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4104T>C (p.His1368=)
NM_001378615.1(CC2D2A):c.4111C>T (p.Leu1371=)
NM_001378615.1(CC2D2A):c.4114T>C (p.Leu1372=)
NM_001378615.1(CC2D2A):c.4125C>T (p.Tyr1375=)
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
NM_001378615.1(CC2D2A):c.4179+12T>C
NM_001378615.1(CC2D2A):c.4179+17T>C
NM_001378615.1(CC2D2A):c.4179+19C>G
NM_001378615.1(CC2D2A):c.4179+8C>A rs2109090417
NM_001378615.1(CC2D2A):c.4179+8C>T
NM_001378615.1(CC2D2A):c.4180-20T>C
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
NM_001378615.1(CC2D2A):c.4305T>A (p.Gly1435=) rs1721005215
NM_001378615.1(CC2D2A):c.4314+13A>G
NM_001378615.1(CC2D2A):c.4314+7A>G
NM_001378615.1(CC2D2A):c.4315-15T>C
NM_001378615.1(CC2D2A):c.4315-16G>A
NM_001378615.1(CC2D2A):c.4315-19G>A
NM_001378615.1(CC2D2A):c.4315-7T>G
NM_001378615.1(CC2D2A):c.432C>G (p.Gly144=)
NM_001378615.1(CC2D2A):c.4335A>G (p.Arg1445=)
NM_001378615.1(CC2D2A):c.4351A>C (p.Arg1451=)
NM_001378615.1(CC2D2A):c.438+12C>T
NM_001378615.1(CC2D2A):c.438+15_438+18del rs1716044858
NM_001378615.1(CC2D2A):c.438+20C>T
NM_001378615.1(CC2D2A):c.439-13T>C
NM_001378615.1(CC2D2A):c.439-16T>C
NM_001378615.1(CC2D2A):c.439-20del
NM_001378615.1(CC2D2A):c.439-5T>C
NM_001378615.1(CC2D2A):c.439-6A>C
NM_001378615.1(CC2D2A):c.439-8T>A
NM_001378615.1(CC2D2A):c.439-8T>G
NM_001378615.1(CC2D2A):c.439-9C>T rs747673081
NM_001378615.1(CC2D2A):c.4407C>T (p.Ser1469=)
NM_001378615.1(CC2D2A):c.4419T>C (p.Pro1473=)
NM_001378615.1(CC2D2A):c.441A>G (p.Pro147=)
NM_001378615.1(CC2D2A):c.4425T>C (p.Leu1475=)
NM_001378615.1(CC2D2A):c.4428C>T (p.Ser1476=)
NM_001378615.1(CC2D2A):c.4434T>A (p.Val1478=)
NM_001378615.1(CC2D2A):c.4437+12T>C
NM_001378615.1(CC2D2A):c.4437+13T>C
NM_001378615.1(CC2D2A):c.4437+7del
NM_001378615.1(CC2D2A):c.4437+8T>A
NM_001378615.1(CC2D2A):c.4438-18C>A
NM_001378615.1(CC2D2A):c.4438-20A>T
NM_001378615.1(CC2D2A):c.4438-5T>C
NM_001378615.1(CC2D2A):c.4464A>T (p.Ser1488=)
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=) rs863225179
NM_001378615.1(CC2D2A):c.4494C>T (p.Asp1498=)
NM_001378615.1(CC2D2A):c.4496+15A>G
NM_001378615.1(CC2D2A):c.4496+16T>C
NM_001378615.1(CC2D2A):c.4496+20T>G
NM_001378615.1(CC2D2A):c.4496+7T>C rs1721369727
NM_001378615.1(CC2D2A):c.4497-15A>C
NM_001378615.1(CC2D2A):c.4497-15_4497-14del rs2148495845
NM_001378615.1(CC2D2A):c.4497-19del
NM_001378615.1(CC2D2A):c.4497-6G>T
NM_001378615.1(CC2D2A):c.4497-9T>C
NM_001378615.1(CC2D2A):c.4536G>A (p.Arg1512=)
NM_001378615.1(CC2D2A):c.453A>G (p.Val151=)
NM_001378615.1(CC2D2A):c.4542C>A (p.Arg1514=)
NM_001378615.1(CC2D2A):c.4545T>C (p.His1515=)
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=) rs755691801
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
NM_001378615.1(CC2D2A):c.4672A>C (p.Arg1558=)
NM_001378615.1(CC2D2A):c.4674+12A>G rs2148496063
NM_001378615.1(CC2D2A):c.4674+19C>G
NM_001378615.1(CC2D2A):c.4675-10T>A rs2148497339
NM_001378615.1(CC2D2A):c.4675-11T>C rs1242070238
NM_001378615.1(CC2D2A):c.4675-13T>C
NM_001378615.1(CC2D2A):c.4675-19A>G
NM_001378615.1(CC2D2A):c.4704T>C (p.Tyr1568=)
NM_001378615.1(CC2D2A):c.4725T>C (p.Ile1575=)
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996
NM_001378615.1(CC2D2A):c.4731T>C (p.Ala1577=)
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=) rs759221177
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=) rs2148497436
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=)
NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=)
NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=)
NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg)
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=) rs1197953378
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=) rs1396115620
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=)
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=)
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
NM_001378615.1(CC2D2A):c.540+10C>G
NM_001378615.1(CC2D2A):c.540+13G>T
NM_001378615.1(CC2D2A):c.540+17T>C
NM_001378615.1(CC2D2A):c.540+18T>C
NM_001378615.1(CC2D2A):c.540+20A>G
NM_001378615.1(CC2D2A):c.541-11C>G
NM_001378615.1(CC2D2A):c.541-12G>A
NM_001378615.1(CC2D2A):c.541-16C>T
NM_001378615.1(CC2D2A):c.541-18C>T
NM_001378615.1(CC2D2A):c.541-5G>T
NM_001378615.1(CC2D2A):c.543T>A (p.Val181=)
NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
NM_001378615.1(CC2D2A):c.552C>A (p.Gly184=)
NM_001378615.1(CC2D2A):c.555C>T (p.Phe185=)
NM_001378615.1(CC2D2A):c.558T>C (p.Pro186=)
NM_001378615.1(CC2D2A):c.609A>G (p.Pro203=)
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=)
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=)
NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=)
NM_001378615.1(CC2D2A):c.630A>G (p.Pro210=)
NM_001378615.1(CC2D2A):c.639A>G (p.Arg213=) rs750290771
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=) rs1714407530
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
NM_001378615.1(CC2D2A):c.717+12C>G
NM_001378615.1(CC2D2A):c.717+12C>T rs776829032
NM_001378615.1(CC2D2A):c.717+13A>G rs2109007872
NM_001378615.1(CC2D2A):c.717+15G>A
NM_001378615.1(CC2D2A):c.717+18G>A
NM_001378615.1(CC2D2A):c.717+19G>A
NM_001378615.1(CC2D2A):c.718-12A>G
NM_001378615.1(CC2D2A):c.718-18C>T
NM_001378615.1(CC2D2A):c.718-19A>G
NM_001378615.1(CC2D2A):c.718-20T>C
NM_001378615.1(CC2D2A):c.718-4G>A
NM_001378615.1(CC2D2A):c.718-5T>C rs1004108988
NM_001378615.1(CC2D2A):c.718-9A>G
NM_001378615.1(CC2D2A):c.726A>G (p.Glu242=)
NM_001378615.1(CC2D2A):c.729A>G (p.Glu243=)
NM_001378615.1(CC2D2A):c.747T>C (p.Asp249=)
NM_001378615.1(CC2D2A):c.750C>A (p.Ala250=)
NM_001378615.1(CC2D2A):c.750C>G (p.Ala250=)
NM_001378615.1(CC2D2A):c.750C>T (p.Ala250=)
NM_001378615.1(CC2D2A):c.762A>C (p.Leu254=)
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=) rs2109011659
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
NM_001378615.1(CC2D2A):c.873G>A (p.Arg291=)
NM_001378615.1(CC2D2A):c.876G>A (p.Gln292=)
NM_001378615.1(CC2D2A):c.880+16A>G
NM_001378615.1(CC2D2A):c.881-14del
NM_001378615.1(CC2D2A):c.881-15T>G
NM_001378615.1(CC2D2A):c.881-5T>A
NM_001378615.1(CC2D2A):c.881-6A>G
NM_001378615.1(CC2D2A):c.881-7G>A
NM_001378615.1(CC2D2A):c.881-7G>T
NM_001378615.1(CC2D2A):c.882C>T (p.Val294=)
NM_001378615.1(CC2D2A):c.888A>G (p.Thr296=) rs1716838439
NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=) rs201439700
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=) rs1207496034
NM_001382391.1(CSPP1):c.-10-13T>A
NM_001382391.1(CSPP1):c.-10-20A>G
NM_001382391.1(CSPP1):c.-10-5T>A rs770289522
NM_001382391.1(CSPP1):c.-103C>T rs202181896
NM_001382391.1(CSPP1):c.-106C>T rs2129538421
NM_001382391.1(CSPP1):c.-121A>C
NM_001382391.1(CSPP1):c.-139G>C
NM_001382391.1(CSPP1):c.-36C>T
NM_001382391.1(CSPP1):c.-43A>C
NM_001382391.1(CSPP1):c.-45_-42del rs762530713
NM_001382391.1(CSPP1):c.-73G>C
NM_001382391.1(CSPP1):c.-85T>C rs2129538434
NM_001382391.1(CSPP1):c.-91G>A rs200332502
NM_001382391.1(CSPP1):c.-94A>G rs1382795214
NM_001382391.1(CSPP1):c.100-11G>A
NM_001382391.1(CSPP1):c.100-12T>C
NM_001382391.1(CSPP1):c.1023-14C>T
NM_001382391.1(CSPP1):c.1023-16G>A
NM_001382391.1(CSPP1):c.1023-16_1023-13del
NM_001382391.1(CSPP1):c.1023-4T>G
NM_001382391.1(CSPP1):c.1023-9T>A
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
NM_001382391.1(CSPP1):c.1093+16C>A
NM_001382391.1(CSPP1):c.1093+16C>G
NM_001382391.1(CSPP1):c.1093+17del rs2129547787
NM_001382391.1(CSPP1):c.1094-6A>G
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) rs566786304
NM_001382391.1(CSPP1):c.1187+19T>A
NM_001382391.1(CSPP1):c.1187+7A>G
NM_001382391.1(CSPP1):c.1188-15T>G
NM_001382391.1(CSPP1):c.1188-20A>C
NM_001382391.1(CSPP1):c.1188-5T>A
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) rs775044108
NM_001382391.1(CSPP1):c.1245+14del rs760948267
NM_001382391.1(CSPP1):c.1245+22_1245+36del rs754206451
NM_001382391.1(CSPP1):c.1245+7G>A
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) rs1283210787
NM_001382391.1(CSPP1):c.1288-11_1288-8del
NM_001382391.1(CSPP1):c.1288-12T>C
NM_001382391.1(CSPP1):c.1288-12del
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) rs1817847996
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
NM_001382391.1(CSPP1):c.1497-6A>G
NM_001382391.1(CSPP1):c.1497-8T>C
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) rs2129551348
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) rs1818326006
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) rs2129551359
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
NM_001382391.1(CSPP1):c.1618+12A>G rs368578567
NM_001382391.1(CSPP1):c.1618+15G>T
NM_001382391.1(CSPP1):c.1618+20A>C rs756484052
NM_001382391.1(CSPP1):c.1618+8A>G
NM_001382391.1(CSPP1):c.1619-13T>C
NM_001382391.1(CSPP1):c.1619-8T>C rs2129551458
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) rs1470629361
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
NM_001382391.1(CSPP1):c.1698-12T>C
NM_001382391.1(CSPP1):c.1698-13_1698-12del
NM_001382391.1(CSPP1):c.1698-4G>C
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) rs1036498137
NM_001382391.1(CSPP1):c.1828-11A>G
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) rs1822589349
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) rs561521861
NM_001382391.1(CSPP1):c.1975+18A>C
NM_001382391.1(CSPP1):c.1976-20G>A
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
NM_001382391.1(CSPP1):c.199+14T>A rs2129541674
NM_001382391.1(CSPP1):c.200-13_200-11del rs766452341
NM_001382391.1(CSPP1):c.200-13del
NM_001382391.1(CSPP1):c.200-18_200-16del
NM_001382391.1(CSPP1):c.200-5T>C
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) rs2129558010
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) rs1375950004
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
NM_001382391.1(CSPP1):c.2128+11A>C
NM_001382391.1(CSPP1):c.2128+23_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+24_2128+36del
NM_001382391.1(CSPP1):c.2128+7_2128+25del rs2129558020
NM_001382391.1(CSPP1):c.2129-4C>G
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) rs887024306
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) rs1826220671
NM_001382391.1(CSPP1):c.2241+15G>A
NM_001382391.1(CSPP1):c.2241+19A>C
NM_001382391.1(CSPP1):c.2241+20_2241+25del rs2129559087
NM_001382391.1(CSPP1):c.2242-13T>C
NM_001382391.1(CSPP1):c.2242-18_2242-15del rs747115433
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) rs2129560136
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) rs1827105533
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) rs2129560142
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) rs2129560155
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) rs754878483
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
NM_001382391.1(CSPP1):c.2392-12T>G rs1322610870
NM_001382391.1(CSPP1):c.2392-17_2392-12del rs763447128
NM_001382391.1(CSPP1):c.2392-8T>C
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) rs1209655756
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) rs1312436989
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
NM_001382391.1(CSPP1):c.2538+13C>A
NM_001382391.1(CSPP1):c.2538+18A>G
NM_001382391.1(CSPP1):c.2538+19T>C
NM_001382391.1(CSPP1):c.2538+20G>A
NM_001382391.1(CSPP1):c.2539-13_2539-4del rs753606187
NM_001382391.1(CSPP1):c.2539-8T>A
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
NM_001382391.1(CSPP1):c.2643+11T>C
NM_001382391.1(CSPP1):c.2643+16T>A
NM_001382391.1(CSPP1):c.2644-11T>C
NM_001382391.1(CSPP1):c.2644-12A>G rs2129562431
NM_001382391.1(CSPP1):c.2644-15A>C
NM_001382391.1(CSPP1):c.2644-18G>C
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) rs2129562477
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) rs2129562485
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
NM_001382391.1(CSPP1):c.2711-13T>C
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) rs2129562840
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
NM_001382391.1(CSPP1):c.2828+16C>A rs749065903
NM_001382391.1(CSPP1):c.2828+20T>A rs2129562857
NM_001382391.1(CSPP1):c.2829-7T>C
NM_001382391.1(CSPP1):c.2829-8A>G
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) rs1586718478
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) rs1327593032
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.385-12T>A
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) rs1479574918
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) rs2129545446
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) rs2129545457
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) rs2129545515
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) rs1271272185
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) rs2129545545
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
NM_001382391.1(CSPP1):c.923+25_923+29del rs2129545562
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
NM_001384732.1(CPLANE1):c.*423C>G rs190089842
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=) rs761587080
NM_001384732.1(CPLANE1):c.1522-16dup rs370335300
NM_001384732.1(CPLANE1):c.2746+15_2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16dup rs751625561
NM_001384732.1(CPLANE1):c.3673-8_3673-4del rs1163206555
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.699T>C (p.His233=) rs762115051
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001384732.1(CPLANE1):c.8011+12del rs774770884
NM_001384732.1(CPLANE1):c.8374-13G>T rs771664716
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
NM_001481.3(GAS8):c.1000C>A (p.Arg334=)
NM_001481.3(GAS8):c.1002A>T (p.Arg334=)
NM_001481.3(GAS8):c.1011+19G>T
NM_001481.3(GAS8):c.1012-13G>A
NM_001481.3(GAS8):c.1012-14C>T
NM_001481.3(GAS8):c.1092C>T (p.Asn364=)
NM_001481.3(GAS8):c.1101A>G (p.Leu367=)
NM_001481.3(GAS8):c.1131T>C (p.Ala377=)
NM_001481.3(GAS8):c.117G>A (p.Arg39=)
NM_001481.3(GAS8):c.1221+10A>G
NM_001481.3(GAS8):c.1221+19C>G
NM_001481.3(GAS8):c.123G>A (p.Glu41=)
NM_001481.3(GAS8):c.1248C>T (p.Thr416=)
NM_001481.3(GAS8):c.1288-13C>T
NM_001481.3(GAS8):c.1288-14C>T
NM_001481.3(GAS8):c.1296C>T (p.Asn432=)
NM_001481.3(GAS8):c.1338G>A (p.Gly446=)
NM_001481.3(GAS8):c.1354G>A (p.Val452Met)
NM_001481.3(GAS8):c.1365G>A (p.Lys455=)
NM_001481.3(GAS8):c.1394_1395inv (p.Thr465Met)
NM_001481.3(GAS8):c.1395A>C (p.Thr465=) rs3743825
NM_001481.3(GAS8):c.1410C>T (p.Pro470=)
NM_001481.3(GAS8):c.1425C>A (p.Gly475=)
NM_001481.3(GAS8):c.1434G>A (p.Thr478=)
NM_001481.3(GAS8):c.204G>A (p.Arg68=)
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928
NM_001481.3(GAS8):c.288+13G>A
NM_001481.3(GAS8):c.289-6C>T
NM_001481.3(GAS8):c.3+11G>C
NM_001481.3(GAS8):c.3+7_3+12del
NM_001481.3(GAS8):c.303A>G (p.Lys101=)
NM_001481.3(GAS8):c.313C>T (p.Leu105=) rs2036650119
NM_001481.3(GAS8):c.357G>A (p.Glu119=)
NM_001481.3(GAS8):c.393C>T (p.His131=)
NM_001481.3(GAS8):c.4-16A>G
NM_001481.3(GAS8):c.4-18C>G
NM_001481.3(GAS8):c.4-7A>C
NM_001481.3(GAS8):c.42C>T (p.Gly14=) rs2151276637
NM_001481.3(GAS8):c.480G>C (p.Val160=)
NM_001481.3(GAS8):c.486C>T (p.Asn162=)
NM_001481.3(GAS8):c.495+8T>G rs1597629138
NM_001481.3(GAS8):c.496-18C>T
NM_001481.3(GAS8):c.504C>T (p.Thr168=)
NM_001481.3(GAS8):c.550+12G>A
NM_001481.3(GAS8):c.551-11C>T
NM_001481.3(GAS8):c.551-14C>G
NM_001481.3(GAS8):c.600C>T (p.Leu200=)
NM_001481.3(GAS8):c.607C>A (p.Arg203=)
NM_001481.3(GAS8):c.621G>A (p.Glu207=)
NM_001481.3(GAS8):c.627C>T (p.His209=)
NM_001481.3(GAS8):c.63C>T (p.Leu21=)
NM_001481.3(GAS8):c.693C>T (p.Thr231=)
NM_001481.3(GAS8):c.714C>T (p.Asn238=)
NM_001481.3(GAS8):c.729C>T (p.Asn243=)
NM_001481.3(GAS8):c.741C>T (p.Leu247=)
NM_001481.3(GAS8):c.756+10G>A
NM_001481.3(GAS8):c.756+7T>C
NM_001481.3(GAS8):c.757-20G>T
NM_001481.3(GAS8):c.775C>A (p.Arg259=)
NM_001481.3(GAS8):c.828C>T (p.Asn276=)
NM_001481.3(GAS8):c.894A>T (p.Ala298=) rs947888399
NM_001481.3(GAS8):c.90+11C>G
NM_001481.3(GAS8):c.90+11C>T
NM_001481.3(GAS8):c.90+13G>A
NM_001481.3(GAS8):c.906G>A (p.Arg302=)
NM_001481.3(GAS8):c.91-17C>G
NM_001481.3(GAS8):c.924+20C>G
NM_001481.3(GAS8):c.925-16C>T
NM_001481.3(GAS8):c.927C>T (p.Cys309=)
NM_001481.3(GAS8):c.936C>G (p.Ala312=)
NM_001481.3(GAS8):c.975G>A (p.Gln325=)
NM_002408.4(MGAT2):c.-351G>T rs116136260
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.15C>T (p.Asp5=) rs2106294236
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_003114.5(SPAG1):c.1041C>T (p.Ser347=)
NM_003114.5(SPAG1):c.1083C>A (p.Gly361=) rs752424284
NM_003114.5(SPAG1):c.1083C>T (p.Gly361=)
NM_003114.5(SPAG1):c.1096+17A>C
NM_003114.5(SPAG1):c.1096+17A>G
NM_003114.5(SPAG1):c.1097-11C>T rs751103088
NM_003114.5(SPAG1):c.1097-18G>A
NM_003114.5(SPAG1):c.1097-4A>G
NM_003114.5(SPAG1):c.1097-8C>T
NM_003114.5(SPAG1):c.1119C>G (p.Ala373=)
NM_003114.5(SPAG1):c.1131C>T (p.Ala377=)
NM_003114.5(SPAG1):c.1155C>T (p.Ile385=)
NM_003114.5(SPAG1):c.1212G>A (p.Pro404=)
NM_003114.5(SPAG1):c.1242G>C (p.Ala414=)
NM_003114.5(SPAG1):c.1257A>C (p.Pro419=)
NM_003114.5(SPAG1):c.1258C>A (p.Arg420=) rs2132352882
NM_003114.5(SPAG1):c.1299C>T (p.Thr433=)
NM_003114.5(SPAG1):c.1308G>T (p.Pro436=)
NM_003114.5(SPAG1):c.1311C>A (p.Gly437=)
NM_003114.5(SPAG1):c.1311C>T (p.Gly437=) rs1474984376
NM_003114.5(SPAG1):c.1314C>A (p.Gly438=) rs764792306
NM_003114.5(SPAG1):c.1314C>T (p.Gly438=)
NM_003114.5(SPAG1):c.1338C>T (p.Ala446=) rs2514681
NM_003114.5(SPAG1):c.1342C>T (p.Leu448=)
NM_003114.5(SPAG1):c.1344G>A (p.Leu448=)
NM_003114.5(SPAG1):c.1347G>A (p.Lys449=)
NM_003114.5(SPAG1):c.1353G>A (p.Gln451=)
NM_003114.5(SPAG1):c.1374C>T (p.Ser458=)
NM_003114.5(SPAG1):c.1386C>G (p.Ala462=)
NM_003114.5(SPAG1):c.1419G>T (p.Ala473=)
NM_003114.5(SPAG1):c.1422C>G (p.Leu474=) rs2132354287
NM_003114.5(SPAG1):c.1435+14G>T
NM_003114.5(SPAG1):c.1435+17C>T
NM_003114.5(SPAG1):c.1435+18del rs995127742
NM_003114.5(SPAG1):c.1435+7G>A rs903148851
NM_003114.5(SPAG1):c.1476T>C (p.Asn492=)
NM_003114.5(SPAG1):c.1535+19G>C
NM_003114.5(SPAG1):c.1536-19A>G
NM_003114.5(SPAG1):c.1611T>C (p.Tyr537=)
NM_003114.5(SPAG1):c.1688+13A>T
NM_003114.5(SPAG1):c.1689-10T>C
NM_003114.5(SPAG1):c.1692A>G (p.Leu564=)
NM_003114.5(SPAG1):c.1749T>A (p.Ile583=)
NM_003114.5(SPAG1):c.1830C>T (p.Ser610=)
NM_003114.5(SPAG1):c.1855+8dup
NM_003114.5(SPAG1):c.1875C>G (p.Ala625=)
NM_003114.5(SPAG1):c.1917T>C (p.Tyr639=)
NM_003114.5(SPAG1):c.1988+19T>A
NM_003114.5(SPAG1):c.1989-11C>T
NM_003114.5(SPAG1):c.1989-14T>C
NM_003114.5(SPAG1):c.1989-15A>G
NM_003114.5(SPAG1):c.2070C>T (p.Asn690=)
NM_003114.5(SPAG1):c.2079C>G (p.Ala693=)
NM_003114.5(SPAG1):c.2116-8A>G
NM_003114.5(SPAG1):c.2211C>T (p.Leu737=)
NM_003114.5(SPAG1):c.2280+13_2280+16del
NM_003114.5(SPAG1):c.2281-12T>C
NM_003114.5(SPAG1):c.2283G>C (p.Val761=)
NM_003114.5(SPAG1):c.2385T>C (p.Pro795=)
NM_003114.5(SPAG1):c.2397G>A (p.Pro799=)
NM_003114.5(SPAG1):c.2418C>T (p.Ala806=) rs1586569957
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val)
NM_003114.5(SPAG1):c.2478A>T (p.Ala826=)
NM_003114.5(SPAG1):c.258T>C (p.Ser86=)
NM_003114.5(SPAG1):c.2598C>T (p.Pro866=) rs749696519
NM_003114.5(SPAG1):c.2602T>C (p.Leu868=)
NM_003114.5(SPAG1):c.2650-20T>G
NM_003114.5(SPAG1):c.2650-6T>A
NM_003114.5(SPAG1):c.2661A>C (p.Thr887=)
NM_003114.5(SPAG1):c.2661A>G (p.Thr887=)
NM_003114.5(SPAG1):c.2766G>A (p.Arg922=)
NM_003114.5(SPAG1):c.288T>C (p.Asp96=)
NM_003114.5(SPAG1):c.427-11T>C
NM_003114.5(SPAG1):c.427-15A>G
NM_003114.5(SPAG1):c.427-8T>A
NM_003114.5(SPAG1):c.477G>A (p.Ala159=)
NM_003114.5(SPAG1):c.488+13dup
NM_003114.5(SPAG1):c.488+9del
NM_003114.5(SPAG1):c.489-7A>G
NM_003114.5(SPAG1):c.519T>C (p.Ile173=) rs1206636909
NM_003114.5(SPAG1):c.543G>A (p.Thr181=)
NM_003114.5(SPAG1):c.595+15AAT[2]
NM_003114.5(SPAG1):c.645A>G (p.Lys215=)
NM_003114.5(SPAG1):c.672T>C (p.Asp224=)
NM_003114.5(SPAG1):c.701+10T>A
NM_003114.5(SPAG1):c.714G>A (p.Ala238=)
NM_003114.5(SPAG1):c.735T>C (p.Tyr245=)
NM_003114.5(SPAG1):c.780T>C (p.Ser260=)
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)
NM_003114.5(SPAG1):c.832+13A>G
NM_003114.5(SPAG1):c.921T>C (p.Pro307=)
NM_003114.5(SPAG1):c.939+15T>C
NM_003114.5(SPAG1):c.939+8T>C
NM_003114.5(SPAG1):c.940-19T>C
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1055+10T>C
NM_003611.3(OFD1):c.1055+12G>A
NM_003611.3(OFD1):c.1056-11C>T
NM_003611.3(OFD1):c.1056-15C>T
NM_003611.3(OFD1):c.1056-21_1056-18del
NM_003611.3(OFD1):c.105A>G (p.Thr35=)
NM_003611.3(OFD1):c.112-18_112-13del
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1129+10G>C
NM_003611.3(OFD1):c.1129+11G>A
NM_003611.3(OFD1):c.1129+12G>C
NM_003611.3(OFD1):c.1129+20T>C
NM_003611.3(OFD1):c.1129+9dup rs1384741515
NM_003611.3(OFD1):c.1130-12C>T
NM_003611.3(OFD1):c.1130-13G>T rs1408701141
NM_003611.3(OFD1):c.1130-21A>T
NM_003611.3(OFD1):c.1130-22A>C
NM_003611.3(OFD1):c.1130-4dup rs759385204
NM_003611.3(OFD1):c.1194A>G (p.Gln398=)
NM_003611.3(OFD1):c.12+10C>A rs1301430671
NM_003611.3(OFD1):c.12+18T>A
NM_003611.3(OFD1):c.12+8C>T
NM_003611.3(OFD1):c.1221+14A>T rs2147016910
NM_003611.3(OFD1):c.1221+7_1221+8del rs2147016859
NM_003611.3(OFD1):c.1222-15C>G
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
NM_003611.3(OFD1):c.1401T>A (p.Arg467=)
NM_003611.3(OFD1):c.1404C>A (p.Leu468=)
NM_003611.3(OFD1):c.1411+11_1411+12dup
NM_003611.3(OFD1):c.1411+15T>C rs2147027201
NM_003611.3(OFD1):c.1411+8T>G
NM_003611.3(OFD1):c.1412-11T>A
NM_003611.3(OFD1):c.1412-6T>C
NM_003611.3(OFD1):c.1412-7T>G rs2147032358
NM_003611.3(OFD1):c.1416A>G (p.Leu472=)
NM_003611.3(OFD1):c.1425G>C (p.Pro475=)
NM_003611.3(OFD1):c.142T>C (p.Leu48=)
NM_003611.3(OFD1):c.1443C>G (p.Val481=)
NM_003611.3(OFD1):c.1467C>T (p.Ala489=)
NM_003611.3(OFD1):c.1500C>T (p.Phe500=)
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
NM_003611.3(OFD1):c.1542+19C>T rs2147033118
NM_003611.3(OFD1):c.1543-14C>T rs2147036091
NM_003611.3(OFD1):c.1543-4T>G rs2147036166
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
NM_003611.3(OFD1):c.1654+17C>T rs2047798661
NM_003611.3(OFD1):c.1655-4G>A
NM_003611.3(OFD1):c.1655-9A>T
NM_003611.3(OFD1):c.1662G>A (p.Glu554=) rs1238971253
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1743C>T (p.Cys581=)
NM_003611.3(OFD1):c.1768T>C (p.Leu590=) rs2147047726
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
NM_003611.3(OFD1):c.1992A>T (p.Pro664=)
NM_003611.3(OFD1):c.1993C>T (p.Leu665=) rs1742426055
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) rs757923355
NM_003611.3(OFD1):c.2166C>T (p.Ala722=)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
NM_003611.3(OFD1):c.2178C>T (p.Arg726=)
NM_003611.3(OFD1):c.2190C>T (p.Ser730=) rs2147049749
NM_003611.3(OFD1):c.2202C>G (p.Leu734=)
NM_003611.3(OFD1):c.2209A>G (p.Thr737Ala)
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
NM_003611.3(OFD1):c.2261-6C>T
NM_003611.3(OFD1):c.2261-7A>G
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
NM_003611.3(OFD1):c.2268C>G (p.Gly756=) rs2147052123
NM_003611.3(OFD1):c.2289C>G (p.Pro763=) rs947500861
NM_003611.3(OFD1):c.229T>C (p.Leu77=)
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
NM_003611.3(OFD1):c.2373G>A (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2387+12G>A
NM_003611.3(OFD1):c.2387+16T>G
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2489-10C>T
NM_003611.3(OFD1):c.2489-13G>A
NM_003611.3(OFD1):c.2499C>T (p.Asn833=) rs2147066586
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
NM_003611.3(OFD1):c.2514G>A (p.Leu838=) rs1443995525
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
NM_003611.3(OFD1):c.2595C>T (p.His865=)
NM_003611.3(OFD1):c.2599+8C>T
NM_003611.3(OFD1):c.2600-17_2600-9del
NM_003611.3(OFD1):c.2600-5A>G rs1555908520
NM_003611.3(OFD1):c.2600-6_2600-3dup
NM_003611.3(OFD1):c.2600-7del rs761400373
NM_003611.3(OFD1):c.2600-9T>A
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.2647C>A (p.Arg883=) rs149790559
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
NM_003611.3(OFD1):c.2701C>T (p.Leu901=) rs773811355
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
NM_003611.3(OFD1):c.2758-4A>G rs1555908820
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
NM_003611.3(OFD1):c.2784T>A (p.Ile928=) rs2147086051
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
NM_003611.3(OFD1):c.288A>G (p.Pro96=) rs2146913731
NM_003611.3(OFD1):c.2895C>T (p.Ile965=) rs2147086446
NM_003611.3(OFD1):c.2928+13T>C rs2147086599
NM_003611.3(OFD1):c.2928+16_2928+22del rs2147086617
NM_003611.3(OFD1):c.2928+7G>A
NM_003611.3(OFD1):c.2929-13T>C
NM_003611.3(OFD1):c.2929-17C>T rs2147088855
NM_003611.3(OFD1):c.2929-20C>T
NM_003611.3(OFD1):c.2929-6A>G rs2147088923
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.2959C>T (p.Leu987=) rs148543618
NM_003611.3(OFD1):c.2970G>T (p.Thr990=)
NM_003611.3(OFD1):c.2991C>G (p.Val997=) rs373088434
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.2996+7G>C
NM_003611.3(OFD1):c.2997-13T>C
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
NM_003611.3(OFD1):c.3024A>C (p.Leu1008=)
NM_003611.3(OFD1):c.312+12C>G
NM_003611.3(OFD1):c.313-16C>A
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
NM_003611.3(OFD1):c.363C>A (p.Ser121=) rs2146928280
NM_003611.3(OFD1):c.381+10C>G
NM_003611.3(OFD1):c.381+20G>A
NM_003611.3(OFD1):c.393T>G (p.Ser131=) rs2146928832
NM_003611.3(OFD1):c.412+10G>T rs201837087
NM_003611.3(OFD1):c.412+9C>T
NM_003611.3(OFD1):c.413-11_413-10del rs1192195829
NM_003611.3(OFD1):c.413-9del rs2146959237
NM_003611.3(OFD1):c.42G>A (p.Leu14=)
NM_003611.3(OFD1):c.485A>G (p.Gln162Arg)
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.518-17dup
NM_003611.3(OFD1):c.518-19A>G
NM_003611.3(OFD1):c.651A>G (p.Gln217=)
NM_003611.3(OFD1):c.655-9A>C rs758500578
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
NM_003611.3(OFD1):c.723G>A (p.Glu241=) rs2146969853
NM_003611.3(OFD1):c.870A>G (p.Leu290=)
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
NM_003611.3(OFD1):c.909G>A (p.Leu303=) rs2047424118
NM_003611.3(OFD1):c.935+8A>T
NM_003611.3(OFD1):c.936-17A>G rs2146992165
NM_003611.3(OFD1):c.954A>G (p.Glu318=) rs2047489521
NM_003611.3(OFD1):c.975T>G (p.Thr325=) rs2047490824
NM_006346.4(PIBF1):c.1223+14_1223+15dup rs200683940
NM_006346.4(PIBF1):c.1965-4dup rs376654507
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.1014A>G (p.Glu338=)
NM_006642.5(SDCCAG8):c.1068+10A>C rs2073291837
NM_006642.5(SDCCAG8):c.1068+17G>A
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1095G>A (p.Arg365=)
NM_006642.5(SDCCAG8):c.1137T>G (p.Leu379=) rs2074516253
NM_006642.5(SDCCAG8):c.1194G>A (p.Thr398=) rs542036953
NM_006642.5(SDCCAG8):c.1222-12T>G rs2147781941
NM_006642.5(SDCCAG8):c.1222-9C>T rs1005846276
NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=)
NM_006642.5(SDCCAG8):c.1263G>A (p.Gln421=) rs2147782083
NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=)
NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=) rs577033259
NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=)
NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=)
NM_006642.5(SDCCAG8):c.1357-12A>T
NM_006642.5(SDCCAG8):c.1357-17T>C
NM_006642.5(SDCCAG8):c.138T>C (p.Asp46=) rs2149263076
NM_006642.5(SDCCAG8):c.1422G>A (p.Glu474=)
NM_006642.5(SDCCAG8):c.1473+14_1473+21del
NM_006642.5(SDCCAG8):c.1474-16C>T rs2147905078
NM_006642.5(SDCCAG8):c.1474-19C>T
NM_006642.5(SDCCAG8):c.1474-8T>C rs2147905136
NM_006642.5(SDCCAG8):c.1542A>C (p.Ala514=)
NM_006642.5(SDCCAG8):c.15G>T (p.Pro5=) rs922791738
NM_006642.5(SDCCAG8):c.1614C>T (p.Thr538=) rs2077762211
NM_006642.5(SDCCAG8):c.1616+13C>T
NM_006642.5(SDCCAG8):c.1616+14C>G rs1051919568
NM_006642.5(SDCCAG8):c.1616+19A>G
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
NM_006642.5(SDCCAG8):c.1620G>A (p.Gln540=)
NM_006642.5(SDCCAG8):c.1653G>A (p.Lys551=)
NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=)
NM_006642.5(SDCCAG8):c.1683G>A (p.Gln561=) rs2148013434
NM_006642.5(SDCCAG8):c.168G>A (p.Val56=) rs1161608103
NM_006642.5(SDCCAG8):c.1744+12G>A
NM_006642.5(SDCCAG8):c.1744+9T>C rs2148013630
NM_006642.5(SDCCAG8):c.1745-14A>C
NM_006642.5(SDCCAG8):c.1745-6T>C
NM_006642.5(SDCCAG8):c.1745-8A>T
NM_006642.5(SDCCAG8):c.1755G>A (p.Gln585=)
NM_006642.5(SDCCAG8):c.1770C>T (p.Thr590=) rs2080721977
NM_006642.5(SDCCAG8):c.1815A>G (p.Thr605=)
NM_006642.5(SDCCAG8):c.1828C>T (p.Leu610=)
NM_006642.5(SDCCAG8):c.1833A>G (p.Glu611=)
NM_006642.5(SDCCAG8):c.1853+13A>G rs2148018785
NM_006642.5(SDCCAG8):c.1853+14T>C
NM_006642.5(SDCCAG8):c.1854-18T>C
NM_006642.5(SDCCAG8):c.1854-6C>T rs951967006
NM_006642.5(SDCCAG8):c.1854-7C>T
NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=)
NM_006642.5(SDCCAG8):c.1893A>G (p.Thr631=)
NM_006642.5(SDCCAG8):c.1896T>C (p.Tyr632=)
NM_006642.5(SDCCAG8):c.1956T>C (p.His652=)
NM_006642.5(SDCCAG8):c.1985+14C>T
NM_006642.5(SDCCAG8):c.1985+15A>G
NM_006642.5(SDCCAG8):c.1986-17G>C rs760731605
NM_006642.5(SDCCAG8):c.1986-4C>T rs1665718706
NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=) rs751286389
NM_006642.5(SDCCAG8):c.2013G>A (p.Gln671=) rs1665723637
NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)
NM_006642.5(SDCCAG8):c.2034G>C (p.Val678=)
NM_006642.5(SDCCAG8):c.2061T>C (p.Leu687=) rs2148267101
NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)
NM_006642.5(SDCCAG8):c.2073G>A (p.Arg691=)
NM_006642.5(SDCCAG8):c.2085G>A (p.Ser695=)
NM_006642.5(SDCCAG8):c.2098C>A (p.Arg700=) rs369591883
NM_006642.5(SDCCAG8):c.2112+20G>A
NM_006642.5(SDCCAG8):c.2112+8G>A rs2148267459
NM_006642.5(SDCCAG8):c.2113-11_2113-8dup
NM_006642.5(SDCCAG8):c.2113-20C>T
NM_006642.5(SDCCAG8):c.216T>C (p.His72=) rs2149263160
NM_006642.5(SDCCAG8):c.220+17A>G
NM_006642.5(SDCCAG8):c.220+7G>A
NM_006642.5(SDCCAG8):c.221-10T>C
NM_006642.5(SDCCAG8):c.221-13T>C
NM_006642.5(SDCCAG8):c.221-14del
NM_006642.5(SDCCAG8):c.255A>G (p.Ala85=)
NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=)
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.306+12C>T
NM_006642.5(SDCCAG8):c.307-4A>G
NM_006642.5(SDCCAG8):c.307-5C>T rs2149268621
NM_006642.5(SDCCAG8):c.366T>C (p.Ile122=) rs2149268701
NM_006642.5(SDCCAG8):c.378T>G (p.Ser126=)
NM_006642.5(SDCCAG8):c.420+11C>T
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.420+20T>C
NM_006642.5(SDCCAG8):c.420+8T>C
NM_006642.5(SDCCAG8):c.421-11_421-8del
NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=)
NM_006642.5(SDCCAG8):c.471C>T (p.Asn157=)
NM_006642.5(SDCCAG8):c.480C>T (p.Leu160=)
NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)
NM_006642.5(SDCCAG8):c.501A>G (p.Gln167=) rs1265778354
NM_006642.5(SDCCAG8):c.543A>C (p.Ala181=)
NM_006642.5(SDCCAG8):c.546+11T>C
NM_006642.5(SDCCAG8):c.546+19C>T
NM_006642.5(SDCCAG8):c.547-13C>T
NM_006642.5(SDCCAG8):c.588T>C (p.Ser196=)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.657T>C (p.Ala219=)
NM_006642.5(SDCCAG8):c.67+10T>C
NM_006642.5(SDCCAG8):c.67+17CT[3] rs2066659937
NM_006642.5(SDCCAG8):c.67+20T>G
NM_006642.5(SDCCAG8):c.676-9T>C
NM_006642.5(SDCCAG8):c.68-18G>A rs373020926
NM_006642.5(SDCCAG8):c.68-19C>T
NM_006642.5(SDCCAG8):c.68-20T>C
NM_006642.5(SDCCAG8):c.727T>C (p.Leu243=)
NM_006642.5(SDCCAG8):c.740+16C>G
NM_006642.5(SDCCAG8):c.740+18A>C rs1394032819
NM_006642.5(SDCCAG8):c.740+7T>A rs2149314969
NM_006642.5(SDCCAG8):c.810T>A (p.Leu270=) rs1573159964
NM_006642.5(SDCCAG8):c.891T>C (p.His297=) rs1017949399
NM_006642.5(SDCCAG8):c.894T>C (p.Thr298=)
NM_006642.5(SDCCAG8):c.930-17T>C
NM_006642.5(SDCCAG8):c.930-4A>T
NM_006642.5(SDCCAG8):c.930-7del
NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=)
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=) rs750272621
NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)
NM_006642.5(SDCCAG8):c.976T>C (p.Leu326=) rs2149331545
NM_012144.4(DNAI1):c.1002C>A (p.Ser334=) rs754233819
NM_012144.4(DNAI1):c.1005C>T (p.Val335=)
NM_012144.4(DNAI1):c.1011C>T (p.Ala337=) rs758595604
NM_012144.4(DNAI1):c.1019+10G>C rs1554689742
NM_012144.4(DNAI1):c.1019+10G>T rs1554689742
NM_012144.4(DNAI1):c.1019+11G>T
NM_012144.4(DNAI1):c.1019+20_1019+28del
NM_012144.4(DNAI1):c.1019+9A>C
NM_012144.4(DNAI1):c.1020-10T>C
NM_012144.4(DNAI1):c.1020-10T>G rs2132072437
NM_012144.4(DNAI1):c.1020-14A>G
NM_012144.4(DNAI1):c.1020-16A>G
NM_012144.4(DNAI1):c.1020-16A>T
NM_012144.4(DNAI1):c.1020-9T>C
NM_012144.4(DNAI1):c.1029G>A (p.Lys343=)
NM_012144.4(DNAI1):c.1063+10C>T rs2132072481
NM_012144.4(DNAI1):c.1063+16A>G rs2132072492
NM_012144.4(DNAI1):c.1063+17T>C
NM_012144.4(DNAI1):c.1063+19C>T rs794727066
NM_012144.4(DNAI1):c.1064-10C>G
NM_012144.4(DNAI1):c.1064-11del
NM_012144.4(DNAI1):c.1064-15A>T
NM_012144.4(DNAI1):c.1064-19G>A
NM_012144.4(DNAI1):c.1064-19G>C
NM_012144.4(DNAI1):c.1064-4G>T
NM_012144.4(DNAI1):c.1064-7T>C rs886038584
NM_012144.4(DNAI1):c.1086G>A (p.Arg362=)
NM_012144.4(DNAI1):c.1095G>A (p.Leu365=) rs749181536
NM_012144.4(DNAI1):c.1095G>T (p.Leu365=) rs749181536
NM_012144.4(DNAI1):c.1101C>G (p.Leu367=) rs768631309
NM_012144.4(DNAI1):c.1110G>A (p.Leu370=) rs2132076725
NM_012144.4(DNAI1):c.1113G>A (p.Lys371=)
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)
NM_012144.4(DNAI1):c.1119C>T (p.Pro373=)
NM_012144.4(DNAI1):c.1122C>T (p.Ser374=)
NM_012144.4(DNAI1):c.1128T>C (p.Pro376=) rs1824937169
NM_012144.4(DNAI1):c.1128T>G (p.Pro376=) rs1824937169
NM_012144.4(DNAI1):c.1131G>A (p.Glu377=) rs936989573
NM_012144.4(DNAI1):c.1134C>T (p.Tyr378=) rs2132076769
NM_012144.4(DNAI1):c.1170C>T (p.Asp390=)
NM_012144.4(DNAI1):c.1179G>C (p.Val393=)
NM_012144.4(DNAI1):c.1188C>T (p.Pro396=) rs2132076864
NM_012144.4(DNAI1):c.1191C>T (p.Tyr397=)
NM_012144.4(DNAI1):c.1197G>A (p.Val399=)
NM_012144.4(DNAI1):c.1206C>A (p.Gly402=) rs1824940432
NM_012144.4(DNAI1):c.1209C>T (p.His403=)
NM_012144.4(DNAI1):c.120T>C (p.Asp40=)
NM_012144.4(DNAI1):c.1239C>G (p.Leu413=) rs2132076954
NM_012144.4(DNAI1):c.123A>G (p.Glu41=)
NM_012144.4(DNAI1):c.1242G>A (p.Lys414=) rs768199292
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1269C>T (p.Cys423=) rs2132076997
NM_012144.4(DNAI1):c.1290G>A (p.Lys430=) rs1047610175
NM_012144.4(DNAI1):c.1302T>C (p.Pro434=)
NM_012144.4(DNAI1):c.1305G>A (p.Val435=)
NM_012144.4(DNAI1):c.1311+13G>A
NM_012144.4(DNAI1):c.1311+16G>A
NM_012144.4(DNAI1):c.1311+16G>T
NM_012144.4(DNAI1):c.1311+20G>A
NM_012144.4(DNAI1):c.1311+21_1311+35del
NM_012144.4(DNAI1):c.1311+7A>G rs2132077061
NM_012144.4(DNAI1):c.1311+9C>G rs2132077070
NM_012144.4(DNAI1):c.1312-19A>C
NM_012144.4(DNAI1):c.1312-7G>A
NM_012144.4(DNAI1):c.132A>G (p.Gln44=) rs2132057349
NM_012144.4(DNAI1):c.1374C>A (p.Gly458=)
NM_012144.4(DNAI1):c.1377G>A (p.Arg459=)
NM_012144.4(DNAI1):c.1383G>A (p.Val461=) rs2132081385
NM_012144.4(DNAI1):c.1401+12C>T
NM_012144.4(DNAI1):c.1401+18A>G
NM_012144.4(DNAI1):c.1401+6dup rs2132081431
NM_012144.4(DNAI1):c.1402-14G>C
NM_012144.4(DNAI1):c.1402-19C>T
NM_012144.4(DNAI1):c.1407G>A (p.Lys469=)
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=) rs201345286
NM_012144.4(DNAI1):c.1431G>A (p.Lys477=)
NM_012144.4(DNAI1):c.1437G>A (p.Lys479=)
NM_012144.4(DNAI1):c.1443A>G (p.Glu481=)
NM_012144.4(DNAI1):c.1449C>T (p.Ser483=) rs1461407696
NM_012144.4(DNAI1):c.144A>G (p.Thr48=)
NM_012144.4(DNAI1):c.1452C>T (p.Thr484=)
NM_012144.4(DNAI1):c.1455G>C (p.Thr485=)
NM_012144.4(DNAI1):c.1476G>A (p.Gln492=)
NM_012144.4(DNAI1):c.1482C>T (p.His494=)
NM_012144.4(DNAI1):c.1489+10C>A
NM_012144.4(DNAI1):c.1489+10C>T
NM_012144.4(DNAI1):c.1489+12A>G
NM_012144.4(DNAI1):c.1489+13G>A
NM_012144.4(DNAI1):c.1489+16C>T
NM_012144.4(DNAI1):c.1490-17C>T
NM_012144.4(DNAI1):c.1490-5C>G
NM_012144.4(DNAI1):c.1490-5C>T rs748260311
NM_012144.4(DNAI1):c.1494T>C (p.Cys498=) rs2132082502
NM_012144.4(DNAI1):c.1497C>T (p.Gly499=)
NM_012144.4(DNAI1):c.1512C>T (p.Phe504=) rs1168965747
NM_012144.4(DNAI1):c.1515C>T (p.His505=) rs2132082536
NM_012144.4(DNAI1):c.1530C>T (p.Tyr510=)
NM_012144.4(DNAI1):c.153C>A (p.Pro51=) rs1587067441
NM_012144.4(DNAI1):c.1563C>T (p.Ile521=) rs2132082600
NM_012144.4(DNAI1):c.1566C>T (p.Tyr522=)
NM_012144.4(DNAI1):c.1569+11C>T
NM_012144.4(DNAI1):c.1569+12C>G
NM_012144.4(DNAI1):c.1569+12dup rs1278322224
NM_012144.4(DNAI1):c.1569+14G>T
NM_012144.4(DNAI1):c.1569+15T>C
NM_012144.4(DNAI1):c.1569+16G>A
NM_012144.4(DNAI1):c.1569+17C>T
NM_012144.4(DNAI1):c.1569+18C>T
NM_012144.4(DNAI1):c.1569+7C>T
NM_012144.4(DNAI1):c.1570-14C>A
NM_012144.4(DNAI1):c.1570-17G>A
NM_012144.4(DNAI1):c.1570-18C>G
NM_012144.4(DNAI1):c.1570-18C>T
NM_012144.4(DNAI1):c.1570-20C>T
NM_012144.4(DNAI1):c.1570-4C>A
NM_012144.4(DNAI1):c.1570-4C>T
NM_012144.4(DNAI1):c.1570-6G>C rs370622070
NM_012144.4(DNAI1):c.1570-8C>T rs2132083713
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.15T>C (p.Ser5=)
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=) rs199502666
NM_012144.4(DNAI1):c.1614C>T (p.Ala538=)
NM_012144.4(DNAI1):c.1635T>G (p.Thr545=)
NM_012144.4(DNAI1):c.1638G>T (p.Val546=) rs1825132822
NM_012144.4(DNAI1):c.1647C>T (p.Asn549=)
NM_012144.4(DNAI1):c.165G>A (p.Leu55=) rs2132057398
NM_012144.4(DNAI1):c.1677C>T (p.Cys559=) rs1379578270
NM_012144.4(DNAI1):c.1683C>G (p.Ser561=) rs749068442
NM_012144.4(DNAI1):c.1683C>T (p.Ser561=) rs749068442
NM_012144.4(DNAI1):c.1692A>C (p.Thr564=)
NM_012144.4(DNAI1):c.1698G>A (p.Lys566=)
NM_012144.4(DNAI1):c.1710C>T (p.His570=)
NM_012144.4(DNAI1):c.1718+12G>A
NM_012144.4(DNAI1):c.1718+15C>T
NM_012144.4(DNAI1):c.1718+19G>T
NM_012144.4(DNAI1):c.1718+20C>T
NM_012144.4(DNAI1):c.1718+9C>A
NM_012144.4(DNAI1):c.1719-10A>C
NM_012144.4(DNAI1):c.1719-12C>T
NM_012144.4(DNAI1):c.1719-14C>T
NM_012144.4(DNAI1):c.1719-18C>T
NM_012144.4(DNAI1):c.1719-4G>A rs1419477770
NM_012144.4(DNAI1):c.1719-9C>T
NM_012144.4(DNAI1):c.1737T>C (p.Tyr579=)
NM_012144.4(DNAI1):c.1746C>T (p.Asn582=)
NM_012144.4(DNAI1):c.174C>A (p.Thr58=)
NM_012144.4(DNAI1):c.1758T>A (p.Gly586=) rs758117826
NM_012144.4(DNAI1):c.1758T>C (p.Gly586=) rs758117826
NM_012144.4(DNAI1):c.1761T>C (p.Asp587=)
NM_012144.4(DNAI1):c.1767C>A (p.Ala589=)
NM_012144.4(DNAI1):c.1776A>T (p.Pro592=) rs1008510837
NM_012144.4(DNAI1):c.1779C>T (p.Tyr593=)
NM_012144.4(DNAI1):c.1788T>C (p.Thr596=)
NM_012144.4(DNAI1):c.180+14C>T
NM_012144.4(DNAI1):c.180+19G>A
NM_012144.4(DNAI1):c.180+20T>C
NM_012144.4(DNAI1):c.1800A>G (p.Ala600=)
NM_012144.4(DNAI1):c.1809A>T (p.Thr603=) rs2132084284
NM_012144.4(DNAI1):c.181-15A>G
NM_012144.4(DNAI1):c.181-5C>T rs2132057646
NM_012144.4(DNAI1):c.181-7C>A
NM_012144.4(DNAI1):c.1818+15C>G
NM_012144.4(DNAI1):c.1818+17T>C
NM_012144.4(DNAI1):c.1818+20C>T
NM_012144.4(DNAI1):c.1818+9C>G
NM_012144.4(DNAI1):c.1819-10C>T
NM_012144.4(DNAI1):c.1819-11C>T
NM_012144.4(DNAI1):c.1819-14C>G
NM_012144.4(DNAI1):c.1819-14C>T
NM_012144.4(DNAI1):c.1819-19G>A
NM_012144.4(DNAI1):c.1819-4A>C rs2132086400
NM_012144.4(DNAI1):c.1821C>T (p.Ala607=) rs2132086418
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=)
NM_012144.4(DNAI1):c.1875G>T (p.Val625=)
NM_012144.4(DNAI1):c.1884A>G (p.Lys628=) rs544254178
NM_012144.4(DNAI1):c.1887G>A (p.Lys629=)
NM_012144.4(DNAI1):c.1899C>A (p.Thr633=) rs1424652340
NM_012144.4(DNAI1):c.1899C>T (p.Thr633=)
NM_012144.4(DNAI1):c.189G>A (p.Lys63=) rs1011660587
NM_012144.4(DNAI1):c.18G>A (p.Ala6=)
NM_012144.4(DNAI1):c.1917C>T (p.Leu639=) rs1825189744
NM_012144.4(DNAI1):c.1920C>A (p.Ile640=) rs778382564
NM_012144.4(DNAI1):c.1926C>A (p.Pro642=) rs2132086584
NM_012144.4(DNAI1):c.192G>A (p.Glu64=) rs2132057666
NM_012144.4(DNAI1):c.1935T>C (p.Ile645=)
NM_012144.4(DNAI1):c.195G>A (p.Glu65=)
NM_012144.4(DNAI1):c.1962C>A (p.Ile654=)
NM_012144.4(DNAI1):c.1962C>T (p.Ile654=)
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=) rs2132086682
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=) rs919734920
NM_012144.4(DNAI1):c.2001+10C>G rs1237431260
NM_012144.4(DNAI1):c.2001+10C>T
NM_012144.4(DNAI1):c.2001+14G>A
NM_012144.4(DNAI1):c.2001+7G>A rs1437773528
NM_012144.4(DNAI1):c.2001+7G>C
NM_012144.4(DNAI1):c.2001+9T>C
NM_012144.4(DNAI1):c.2002-10C>T
NM_012144.4(DNAI1):c.2002-18T>C
NM_012144.4(DNAI1):c.2002-4C>T
NM_012144.4(DNAI1):c.2002-5C>T rs1587096958
NM_012144.4(DNAI1):c.2007G>A (p.Lys669=)
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=)
NM_012144.4(DNAI1):c.2022G>A (p.Val674=) rs933564569
NM_012144.4(DNAI1):c.202C>A (p.Arg68=) rs759540568
NM_012144.4(DNAI1):c.2046T>A (p.Ile682=) rs2132089778
NM_012144.4(DNAI1):c.2049G>C (p.Ala683=)
NM_012144.4(DNAI1):c.204G>A (p.Arg68=) rs1301833925
NM_012144.4(DNAI1):c.2058C>T (p.Asp686=) rs770774973
NM_012144.4(DNAI1):c.2067G>A (p.Leu689=)
NM_012144.4(DNAI1):c.2076G>C (p.Val692=)
NM_012144.4(DNAI1):c.207T>A (p.Ile69=) rs2132057695
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.261+10C>T rs1824453816
NM_012144.4(DNAI1):c.261+13C>T
NM_012144.4(DNAI1):c.261+15C>T
NM_012144.4(DNAI1):c.261+16C>T
NM_012144.4(DNAI1):c.261+19G>C
NM_012144.4(DNAI1):c.261+7C>T
NM_012144.4(DNAI1):c.261+8A>G rs757264175
NM_012144.4(DNAI1):c.262-13C>T
NM_012144.4(DNAI1):c.262-4T>C
NM_012144.4(DNAI1):c.262-7T>G rs2132060966
NM_012144.4(DNAI1):c.262-8C>T
NM_012144.4(DNAI1):c.273T>C (p.Tyr91=)
NM_012144.4(DNAI1):c.288T>C (p.Phe96=) rs201935680
NM_012144.4(DNAI1):c.291G>T (p.Val97=) rs1824534447
NM_012144.4(DNAI1):c.300G>C (p.Leu100=)
NM_012144.4(DNAI1):c.315C>G (p.Thr105=)
NM_012144.4(DNAI1):c.315C>T (p.Thr105=)
NM_012144.4(DNAI1):c.327C>T (p.Asn109=) rs1691131982
NM_012144.4(DNAI1):c.333C>T (p.Ile111=) rs1318069994
NM_012144.4(DNAI1):c.336C>T (p.Pro112=) rs2132061103
NM_012144.4(DNAI1):c.338A>G (p.Lys113Arg) rs367903999
NM_012144.4(DNAI1):c.366T>C (p.His122=) rs1060503514
NM_012144.4(DNAI1):c.384G>A (p.Val128=) rs2132061208
NM_012144.4(DNAI1):c.388+10T>C
NM_012144.4(DNAI1):c.389-11A>G
NM_012144.4(DNAI1):c.389-13G>A
NM_012144.4(DNAI1):c.389-19T>C
NM_012144.4(DNAI1):c.389-5C>A rs1587070803
NM_012144.4(DNAI1):c.389-8C>A
NM_012144.4(DNAI1):c.389-9C>T
NM_012144.4(DNAI1):c.399G>A (p.Glu133=) rs756828891
NM_012144.4(DNAI1):c.402T>A (p.Ser134=)
NM_012144.4(DNAI1):c.423A>G (p.Thr141=) rs2132061760
NM_012144.4(DNAI1):c.426A>G (p.Gly142=)
NM_012144.4(DNAI1):c.441C>T (p.Asp147=) rs374753293
NM_012144.4(DNAI1):c.447G>A (p.Glu149=) rs1371790403
NM_012144.4(DNAI1):c.453G>A (p.Lys151=)
NM_012144.4(DNAI1):c.474G>A (p.Gly158=)
NM_012144.4(DNAI1):c.48+10G>A rs2132034542
NM_012144.4(DNAI1):c.48+10G>T
NM_012144.4(DNAI1):c.48+13C>T
NM_012144.4(DNAI1):c.48+14A>G
NM_012144.4(DNAI1):c.48+16C>T rs775621604
NM_012144.4(DNAI1):c.48+19C>T
NM_012144.4(DNAI1):c.48+9C>T
NM_012144.4(DNAI1):c.489G>A (p.Val163=)
NM_012144.4(DNAI1):c.49-10C>T
NM_012144.4(DNAI1):c.49-4T>G rs2132055870
NM_012144.4(DNAI1):c.49-7C>T
NM_012144.4(DNAI1):c.498T>G (p.Ala166=)
NM_012144.4(DNAI1):c.501+10A>G rs765805502
NM_012144.4(DNAI1):c.501+15C>A rs369759767
NM_012144.4(DNAI1):c.501+15C>T
NM_012144.4(DNAI1):c.501+16G>T
NM_012144.4(DNAI1):c.501+17C>T
NM_012144.4(DNAI1):c.501+19_501+20del
NM_012144.4(DNAI1):c.501+8A>G
NM_012144.4(DNAI1):c.502-10T>C
NM_012144.4(DNAI1):c.516G>A (p.Val172=) rs2132062151
NM_012144.4(DNAI1):c.51C>T (p.Ser17=) rs2132055879
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del) rs878854967
NM_012144.4(DNAI1):c.528A>G (p.Glu176=) rs2132062181
NM_012144.4(DNAI1):c.529T>C (p.Leu177=) rs1225651030
NM_012144.4(DNAI1):c.537T>C (p.Thr179=) rs2132062198
NM_012144.4(DNAI1):c.543G>A (p.Lys181=) rs2132062207
NM_012144.4(DNAI1):c.549C>G (p.Pro183=) rs771926865
NM_012144.4(DNAI1):c.549C>T (p.Pro183=) rs771926865
NM_012144.4(DNAI1):c.552G>A (p.Lys184=) rs2132062224
NM_012144.4(DNAI1):c.570C>T (p.Asn190=)
NM_012144.4(DNAI1):c.579C>T (p.Asn193=)
NM_012144.4(DNAI1):c.594C>G (p.Ala198=)
NM_012144.4(DNAI1):c.603C>G (p.Thr201=) rs8181087
NM_012144.4(DNAI1):c.606C>T (p.Tyr202=) rs1824565965
NM_012144.4(DNAI1):c.60A>C (p.Ile20=)
NM_012144.4(DNAI1):c.615T>C (p.Pro205=) rs1824566223
NM_012144.4(DNAI1):c.621+12C>T
NM_012144.4(DNAI1):c.621+13C>T
NM_012144.4(DNAI1):c.621+14C>A
NM_012144.4(DNAI1):c.621+14C>T
NM_012144.4(DNAI1):c.621+14dup rs757124110
NM_012144.4(DNAI1):c.621+15A>C
NM_012144.4(DNAI1):c.621+17C>G
NM_012144.4(DNAI1):c.621+9G>A
NM_012144.4(DNAI1):c.622-10T>C
NM_012144.4(DNAI1):c.622-14G>A
NM_012144.4(DNAI1):c.622-20C>G
NM_012144.4(DNAI1):c.622-9G>C rs1317000391
NM_012144.4(DNAI1):c.651C>A (p.Pro217=)
NM_012144.4(DNAI1):c.654G>A (p.Arg218=)
NM_012144.4(DNAI1):c.675C>T (p.Ala225=)
NM_012144.4(DNAI1):c.681+20T>C
NM_012144.4(DNAI1):c.681+8C>G
NM_012144.4(DNAI1):c.682-10C>T rs748769889
NM_012144.4(DNAI1):c.682-11C>A
NM_012144.4(DNAI1):c.682-11C>T
NM_012144.4(DNAI1):c.682-18T>C
NM_012144.4(DNAI1):c.682-6G>C
NM_012144.4(DNAI1):c.682-9C>T
NM_012144.4(DNAI1):c.693T>C (p.Tyr231=)
NM_012144.4(DNAI1):c.696T>C (p.Asp232=) rs2132065303
NM_012144.4(DNAI1):c.702T>C (p.Tyr234=)
NM_012144.4(DNAI1):c.705A>C (p.Val235=) rs2132065332
NM_012144.4(DNAI1):c.705A>G (p.Val235=)
NM_012144.4(DNAI1):c.711A>G (p.Glu237=)
NM_012144.4(DNAI1):c.723G>A (p.Gln241=)
NM_012144.4(DNAI1):c.726A>G (p.Glu242=) rs2132065376
NM_012144.4(DNAI1):c.732C>G (p.Thr244=)
NM_012144.4(DNAI1):c.732C>T (p.Thr244=) rs947504661
NM_012144.4(DNAI1):c.747G>A (p.Lys249=) rs764172924
NM_012144.4(DNAI1):c.753G>A (p.Lys251=)
NM_012144.4(DNAI1):c.75G>A (p.Arg25=) rs2132055905
NM_012144.4(DNAI1):c.762G>A (p.Val254=) rs1427393338
NM_012144.4(DNAI1):c.771A>G (p.Lys257=) rs761802925
NM_012144.4(DNAI1):c.786C>T (p.Ala262=) rs2132065491
NM_012144.4(DNAI1):c.78G>A (p.Lys26=) rs2132055908
NM_012144.4(DNAI1):c.804T>G (p.Ser268=) rs2132065526
NM_012144.4(DNAI1):c.805A>G (p.Met269Val)
NM_012144.4(DNAI1):c.81+11A>G
NM_012144.4(DNAI1):c.81+12G>C
NM_012144.4(DNAI1):c.81+14C>G
NM_012144.4(DNAI1):c.81+18C>T
NM_012144.4(DNAI1):c.816+12G>A
NM_012144.4(DNAI1):c.816+15C>G
NM_012144.4(DNAI1):c.816+16C>G
NM_012144.4(DNAI1):c.816+16C>T
NM_012144.4(DNAI1):c.816+18A>G
NM_012144.4(DNAI1):c.816+19C>T
NM_012144.4(DNAI1):c.816+20A>G
NM_012144.4(DNAI1):c.817-18G>A
NM_012144.4(DNAI1):c.817-7C>T rs1587076750
NM_012144.4(DNAI1):c.82-11T>A
NM_012144.4(DNAI1):c.82-11T>C
NM_012144.4(DNAI1):c.82-12G>A rs1824445018
NM_012144.4(DNAI1):c.82-12del
NM_012144.4(DNAI1):c.82-6G>A
NM_012144.4(DNAI1):c.82-8T>C rs1824445067
NM_012144.4(DNAI1):c.825T>C (p.Asp275=)
NM_012144.4(DNAI1):c.831C>T (p.Ile277=) rs139611887
NM_012144.4(DNAI1):c.837G>A (p.Leu279=)
NM_012144.4(DNAI1):c.840C>T (p.Ser280=) rs2132068936
NM_012144.4(DNAI1):c.843A>G (p.Gln281=)
NM_012144.4(DNAI1):c.861G>A (p.Glu287=)
NM_012144.4(DNAI1):c.864G>A (p.Arg288=) rs1824742311
NM_012144.4(DNAI1):c.864G>C (p.Arg288=)
NM_012144.4(DNAI1):c.864G>T (p.Arg288=)
NM_012144.4(DNAI1):c.891C>T (p.Asp297=) rs2132069010
NM_012144.4(DNAI1):c.897T>C (p.Ala299=)
NM_012144.4(DNAI1):c.901+12A>T
NM_012144.4(DNAI1):c.901+20C>A
NM_012144.4(DNAI1):c.901+7G>A
NM_012144.4(DNAI1):c.902-11G>A
NM_012144.4(DNAI1):c.902-13G>A
NM_012144.4(DNAI1):c.902-13G>C
NM_012144.4(DNAI1):c.902-15C>T
NM_012144.4(DNAI1):c.902-16C>G rs2132071917
NM_012144.4(DNAI1):c.902-17G>T
NM_012144.4(DNAI1):c.902-6T>C
NM_012144.4(DNAI1):c.93A>G (p.Ser31=)
NM_012144.4(DNAI1):c.945G>A (p.Gln315=)
NM_012144.4(DNAI1):c.958C>T (p.Leu320=)
NM_012144.4(DNAI1):c.960G>T (p.Leu320=) rs2132072031
NM_012144.4(DNAI1):c.963G>C (p.Pro321=) rs762694599
NM_012144.4(DNAI1):c.963G>T (p.Pro321=) rs762694599
NM_012144.4(DNAI1):c.96G>A (p.Gly32=)
NM_012144.4(DNAI1):c.984C>T (p.Asp328=) rs2132072063
NM_012144.4(DNAI1):c.990C>G (p.Ala330=)
NM_012144.4(DNAI1):c.994C>T (p.Arg332Cys)
NM_012144.4(DNAI1):c.995G>A (p.Arg332His)
NM_012210.4(TRIM32):c.1002C>G (p.Ala334=)
NM_012210.4(TRIM32):c.1014C>T (p.Ala338=)
NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)
NM_012210.4(TRIM32):c.1041G>A (p.Glu347=) rs1588217225
NM_012210.4(TRIM32):c.1059G>A (p.Gln353=)
NM_012210.4(TRIM32):c.1065C>T (p.Cys355=)
NM_012210.4(TRIM32):c.1074C>T (p.Leu358=)
NM_012210.4(TRIM32):c.1095C>G (p.Gly365=) rs1861024296
NM_012210.4(TRIM32):c.1104A>C (p.Pro368=)
NM_012210.4(TRIM32):c.1104A>G (p.Pro368=)
NM_012210.4(TRIM32):c.111G>A (p.Leu37=)
NM_012210.4(TRIM32):c.1125C>G (p.Val375=)
NM_012210.4(TRIM32):c.1125C>T (p.Val375=)
NM_012210.4(TRIM32):c.1146A>G (p.Gln382=)
NM_012210.4(TRIM32):c.1149T>G (p.Gly383=) rs1861027829
NM_012210.4(TRIM32):c.1152A>G (p.Glu384=)
NM_012210.4(TRIM32):c.1155A>C (p.Val385=)
NM_012210.4(TRIM32):c.1167C>T (p.Asp389=)
NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)
NM_012210.4(TRIM32):c.1194T>C (p.Phe398=) rs980926202
NM_012210.4(TRIM32):c.1197C>A (p.Thr399=) rs779442616
NM_012210.4(TRIM32):c.1206C>G (p.Gly402=)
NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)
NM_012210.4(TRIM32):c.1221C>A (p.Ile407=)
NM_012210.4(TRIM32):c.1230C>T (p.Ser410=) rs1055663395
NM_012210.4(TRIM32):c.1255C>T (p.Leu419=) rs2132074396
NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)
NM_012210.4(TRIM32):c.1299A>T (p.Ser433=)
NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)
NM_012210.4(TRIM32):c.1344T>C (p.Tyr448=)
NM_012210.4(TRIM32):c.1350C>T (p.Asn450=)
NM_012210.4(TRIM32):c.1362A>G (p.Val454=)
NM_012210.4(TRIM32):c.1365T>C (p.Tyr455=)
NM_012210.4(TRIM32):c.1374T>C (p.Asp458=)
NM_012210.4(TRIM32):c.1377C>A (p.Gly459=)
NM_012210.4(TRIM32):c.1386G>T (p.Val462=)
NM_012210.4(TRIM32):c.141C>T (p.Cys47=)
NM_012210.4(TRIM32):c.1434G>A (p.Leu478=)
NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)
NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)
NM_012210.4(TRIM32):c.1458C>G (p.Thr486=)
NM_012210.4(TRIM32):c.1461T>C (p.Asp487=) rs922859943
NM_012210.4(TRIM32):c.1464G>A (p.Val488=)
NM_012210.4(TRIM32):c.147G>A (p.Glu49=)
NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)
NM_012210.4(TRIM32):c.1506A>G (p.Ser502=)
NM_012210.4(TRIM32):c.1512G>C (p.Val504=)
NM_012210.4(TRIM32):c.1515C>T (p.Val505=)
NM_012210.4(TRIM32):c.1521C>T (p.Tyr507=)
NM_012210.4(TRIM32):c.1527C>T (p.Cys509=)
NM_012210.4(TRIM32):c.1528C>T (p.Leu510=)
NM_012210.4(TRIM32):c.1530A>C (p.Leu510=) rs145728860
NM_012210.4(TRIM32):c.1539T>C (p.Ala513=) rs1588218403
NM_012210.4(TRIM32):c.153A>G (p.Leu51=) rs1413028401
NM_012210.4(TRIM32):c.154T>C (p.Leu52=)
NM_012210.4(TRIM32):c.1551A>G (p.Lys517=) rs1861054098
NM_012210.4(TRIM32):c.1560C>G (p.Thr520=)
NM_012210.4(TRIM32):c.1563T>C (p.Cys521=)
NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)
NM_012210.4(TRIM32):c.1578C>A (p.Thr526=)
NM_012210.4(TRIM32):c.1578C>G (p.Thr526=) rs778620127
NM_012210.4(TRIM32):c.159C>T (p.Ala53=) rs2132070452
NM_012210.4(TRIM32):c.1602C>T (p.Gly534=)
NM_012210.4(TRIM32):c.1611G>T (p.Leu537=)
NM_012210.4(TRIM32):c.1620G>C (p.Arg540=)
NM_012210.4(TRIM32):c.1635C>T (p.His545=) rs1369528663
NM_012210.4(TRIM32):c.1638G>A (p.Leu546=)
NM_012210.4(TRIM32):c.1653C>T (p.Ser551=)
NM_012210.4(TRIM32):c.1659C>G (p.Gly553=) rs150318692
NM_012210.4(TRIM32):c.1659C>T (p.Gly553=)
NM_012210.4(TRIM32):c.1668C>T (p.Gly556=) rs2132075521
NM_012210.4(TRIM32):c.1671T>C (p.Pro557=)
NM_012210.4(TRIM32):c.1677G>A (p.Gly559=)
NM_012210.4(TRIM32):c.1686T>C (p.Gly562=) rs2132075583
NM_012210.4(TRIM32):c.1689C>T (p.Arg563=)
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.1710G>T (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.1716T>C (p.Asn572=) rs2132075693
NM_012210.4(TRIM32):c.1719G>A (p.Glu573=)
NM_012210.4(TRIM32):c.1737T>C (p.Ala579=) rs1588218802
NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)
NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)
NM_012210.4(TRIM32):c.1770C>T (p.Ile590=) rs776504480
NM_012210.4(TRIM32):c.1788C>A (p.Arg596=)
NM_012210.4(TRIM32):c.1818G>C (p.Gly606=)
NM_012210.4(TRIM32):c.1857G>C (p.Pro619=)
NM_012210.4(TRIM32):c.186C>T (p.Pro62=)
NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)
NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)
NM_012210.4(TRIM32):c.1893G>A (p.Leu631=)
NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)
NM_012210.4(TRIM32):c.1932C>T (p.Ser644=)
NM_012210.4(TRIM32):c.1950T>C (p.Tyr650=) rs1273018123
NM_012210.4(TRIM32):c.213C>T (p.Thr71=) rs2132070638
NM_012210.4(TRIM32):c.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.217T>C (p.Leu73=)
NM_012210.4(TRIM32):c.21T>A (p.Ser7=)
NM_012210.4(TRIM32):c.222C>T (p.Thr74=)
NM_012210.4(TRIM32):c.240G>C (p.Leu80=)
NM_012210.4(TRIM32):c.243A>G (p.Thr81=)
NM_012210.4(TRIM32):c.246G>A (p.Val82=) rs1418790890
NM_012210.4(TRIM32):c.249A>C (p.Leu83=)
NM_012210.4(TRIM32):c.267T>C (p.Ala89=)
NM_012210.4(TRIM32):c.279G>A (p.Glu93=) rs1189793134
NM_012210.4(TRIM32):c.27G>A (p.Leu9=)
NM_012210.4(TRIM32):c.27G>T (p.Leu9=)
NM_012210.4(TRIM32):c.319C>T (p.Leu107=) rs886042410
NM_012210.4(TRIM32):c.324C>T (p.Pro108=)
NM_012210.4(TRIM32):c.351G>A (p.Leu117=)
NM_012210.4(TRIM32):c.363G>A (p.Glu121=)
NM_012210.4(TRIM32):c.369C>T (p.Cys123=)
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.387G>A (p.Gln129=) rs748208744
NM_012210.4(TRIM32):c.408C>A (p.Leu136=) rs2132071452
NM_012210.4(TRIM32):c.423A>G (p.Ala141=)
NM_012210.4(TRIM32):c.426T>C (p.Ala142=) rs2132071526
NM_012210.4(TRIM32):c.42C>A (p.Leu14=)
NM_012210.4(TRIM32):c.433C>A (p.Arg145=) rs763720824
NM_012210.4(TRIM32):c.468G>C (p.Leu156=)
NM_012210.4(TRIM32):c.468G>T (p.Leu156=)
NM_012210.4(TRIM32):c.471G>A (p.Arg157=)
NM_012210.4(TRIM32):c.510G>A (p.Leu170=)
NM_012210.4(TRIM32):c.516T>G (p.Gly172=) rs753234105
NM_012210.4(TRIM32):c.540G>A (p.Arg180=) rs2132072067
NM_012210.4(TRIM32):c.564T>C (p.Tyr188=)
NM_012210.4(TRIM32):c.567G>C (p.Gly189=)
NM_012210.4(TRIM32):c.57A>G (p.Glu19=)
NM_012210.4(TRIM32):c.597G>A (p.Leu199=)
NM_012210.4(TRIM32):c.603C>A (p.Arg201=) rs767937527
NM_012210.4(TRIM32):c.621A>C (p.Thr207=)
NM_012210.4(TRIM32):c.624C>A (p.Gly208=)
NM_012210.4(TRIM32):c.624C>T (p.Gly208=)
NM_012210.4(TRIM32):c.633T>C (p.Ala211=) rs753960738
NM_012210.4(TRIM32):c.654T>C (p.Ser218=)
NM_012210.4(TRIM32):c.660G>A (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.663A>C (p.Val221=)
NM_012210.4(TRIM32):c.666G>A (p.Glu222=)
NM_012210.4(TRIM32):c.699G>T (p.Val233=) rs1057521228
NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)
NM_012210.4(TRIM32):c.735G>A (p.Lys245=)
NM_012210.4(TRIM32):c.744G>A (p.Gln248=) rs750466433
NM_012210.4(TRIM32):c.753A>C (p.Val251=)
NM_012210.4(TRIM32):c.756A>T (p.Ala252=)
NM_012210.4(TRIM32):c.777T>C (p.Asp259=) rs2132072865
NM_012210.4(TRIM32):c.780G>A (p.Glu260=)
NM_012210.4(TRIM32):c.792G>A (p.Glu264=)
NM_012210.4(TRIM32):c.798T>G (p.Thr266=) rs1588216749
NM_012210.4(TRIM32):c.810T>C (p.Pro270=)
NM_012210.4(TRIM32):c.822C>A (p.Thr274=)
NM_012210.4(TRIM32):c.825G>A (p.Leu275=)
NM_012210.4(TRIM32):c.843T>C (p.Leu281=)
NM_012210.4(TRIM32):c.846G>A (p.Lys282=)
NM_012210.4(TRIM32):c.855T>C (p.His285=) rs1290656615
NM_012210.4(TRIM32):c.867C>T (p.Leu289=)
NM_012210.4(TRIM32):c.894C>G (p.Pro298=)
NM_012210.4(TRIM32):c.900A>G (p.Thr300=)
NM_012210.4(TRIM32):c.906C>T (p.Asn302=)
NM_012210.4(TRIM32):c.909G>C (p.Val303=)
NM_012210.4(TRIM32):c.915T>C (p.Asp305=)
NM_012210.4(TRIM32):c.924C>A (p.Ala308=)
NM_012210.4(TRIM32):c.933C>T (p.Ala311=) rs2132073435
NM_012210.4(TRIM32):c.936A>G (p.Thr312=)
NM_012210.4(TRIM32):c.939G>A (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.939G>T (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.957T>C (p.Ser319=)
NM_012210.4(TRIM32):c.963T>G (p.Thr321=)
NM_012210.4(TRIM32):c.972G>A (p.Glu324=) rs904444090
NM_012472.6(DNAAF11):c.10+12T>A
NM_012472.6(DNAAF11):c.10+7C>T
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=)
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)
NM_012472.6(DNAAF11):c.108A>G (p.Leu36=)
NM_012472.6(DNAAF11):c.1140+11T>A
NM_012472.6(DNAAF11):c.1141-7A>G
NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)
NM_012472.6(DNAAF11):c.1226+10T>A
NM_012472.6(DNAAF11):c.1226+17C>T
NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=)
NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=)
NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=)
NM_012472.6(DNAAF11):c.1386G>A (p.Val462=)
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=) rs768257025
NM_012472.6(DNAAF11):c.179-16T>G
NM_012472.6(DNAAF11):c.306G>A (p.Glu102=)
NM_012472.6(DNAAF11):c.372A>C (p.Pro124=)
NM_012472.6(DNAAF11):c.429+13T>A
NM_012472.6(DNAAF11):c.48C>T (p.Asn16=)
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.654-20G>T
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=) rs200925027
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) rs144399982
NM_012472.6(DNAAF11):c.726C>T (p.Asn242=)
NM_012472.6(DNAAF11):c.756G>A (p.Lys252=)
NM_012472.6(DNAAF11):c.81G>A (p.Ser27=)
NM_012472.6(DNAAF11):c.836+20G>A
NM_012472.6(DNAAF11):c.837-11C>A
NM_012472.6(DNAAF11):c.837-9A>G
NM_012472.6(DNAAF11):c.864C>T (p.Pro288=) rs2130273264
NM_012472.6(DNAAF11):c.873G>A (p.Leu291=) rs757257028
NM_012472.6(DNAAF11):c.914+18G>C rs2130271136
NM_012472.6(DNAAF11):c.915-11G>A
NM_012472.6(DNAAF11):c.939C>T (p.Asn313=)
NM_012472.6(DNAAF11):c.969C>G (p.Val323=)
NM_012472.6(DNAAF11):c.974+9A>G
NM_012472.6(DNAAF11):c.996C>T (p.Ile332=)
NM_014704.4(CEP104):c.113+19G>A
NM_014704.4(CEP104):c.113+7A>C
NM_014704.4(CEP104):c.123G>A (p.Gln41=)
NM_014704.4(CEP104):c.1317+12_1317+13insC
NM_014704.4(CEP104):c.1317+16A>C
NM_014704.4(CEP104):c.1317+17_1317+18insC
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
NM_014704.4(CEP104):c.1479G>A (p.Val493=)
NM_014704.4(CEP104):c.1485+14G>A rs2124668323
NM_014704.4(CEP104):c.1635C>T (p.Arg545=)
NM_014704.4(CEP104):c.1659+16C>T
NM_014704.4(CEP104):c.1659+17G>A
NM_014704.4(CEP104):c.1660-4A>C
NM_014704.4(CEP104):c.1716G>A (p.Val572=) rs1570796463
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)
NM_014704.4(CEP104):c.1836+16G>A
NM_014704.4(CEP104):c.1905C>T (p.Asp635=) rs2124656471
NM_014704.4(CEP104):c.2043+7del
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2127G>C (p.Leu709=) rs1228921351
NM_014704.4(CEP104):c.2151+15C>T
NM_014704.4(CEP104):c.2151+16G>A
NM_014704.4(CEP104):c.2214T>C (p.Pro738=) rs2124649026
NM_014704.4(CEP104):c.2255+8G>A
NM_014704.4(CEP104):c.2325G>A (p.Lys775=)
NM_014704.4(CEP104):c.2344A>C (p.Arg782=)
NM_014704.4(CEP104):c.2365-18C>G
NM_014704.4(CEP104):c.2460C>T (p.Phe820=)
NM_014704.4(CEP104):c.2503+17A>G
NM_014704.4(CEP104):c.2601C>T (p.Ala867=)
NM_014704.4(CEP104):c.2662+12C>T
NM_014704.4(CEP104):c.2662+13G>A
NM_014704.4(CEP104):c.2703A>G (p.Ser901=) rs369737290
NM_014704.4(CEP104):c.2709C>T (p.Ala903=)
NM_014704.4(CEP104):c.2730G>A (p.Pro910=)
NM_014704.4(CEP104):c.2751C>T (p.Ser917=) rs538187962
NM_014704.4(CEP104):c.2775C>T (p.Arg925=)
NM_014704.4(CEP104):c.390C>T (p.His130=) rs1011573112
NM_014704.4(CEP104):c.426+19C>T
NM_014704.4(CEP104):c.426+20G>A
NM_014704.4(CEP104):c.45C>T (p.His15=)
NM_014704.4(CEP104):c.489+15T>C
NM_014704.4(CEP104):c.566+12G>A
NM_014704.4(CEP104):c.606T>C (p.Phe202=)
NM_014704.4(CEP104):c.736-19_736-18delinsAT rs2124676799
NM_014704.4(CEP104):c.885C>T (p.Ala295=)
NM_014704.4(CEP104):c.891+20C>T
NM_014704.4(CEP104):c.892-16C>G
NM_014704.4(CEP104):c.927C>T (p.Leu309=)
NM_014704.4(CEP104):c.984A>G (p.Glu328=)
NM_014714.4(IFT140):c.1009+10C>T
NM_014714.4(IFT140):c.1009+16C>A
NM_014714.4(IFT140):c.1009+17T>C
NM_014714.4(IFT140):c.1009+17T>G
NM_014714.4(IFT140):c.1010-10C>A
NM_014714.4(IFT140):c.1010-15T>G
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
NM_014714.4(IFT140):c.1104G>A (p.Arg368=) rs2141839599
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
NM_014714.4(IFT140):c.1155+18G>A rs2034862936
NM_014714.4(IFT140):c.1156-11T>C
NM_014714.4(IFT140):c.1156-19T>C
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) rs778865722
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
NM_014714.4(IFT140):c.1251G>A (p.Val417=) rs1011320736
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) rs2141817626
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
NM_014714.4(IFT140):c.1360-13T>C
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) rs771030841
NM_014714.4(IFT140):c.1432+17C>T
NM_014714.4(IFT140):c.1432+18G>T
NM_014714.4(IFT140):c.1432+20A>G
NM_014714.4(IFT140):c.1432+8C>A rs1470310323
NM_014714.4(IFT140):c.1433-11T>G
NM_014714.4(IFT140):c.1433-14G>A
NM_014714.4(IFT140):c.1433-8C>A rs2034521408
NM_014714.4(IFT140):c.147+13A>G
NM_014714.4(IFT140):c.148-14C>G
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.148-17C>T
NM_014714.4(IFT140):c.148-8C>A rs2142043483
NM_014714.4(IFT140):c.1491G>A (p.Val497=)
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
NM_014714.4(IFT140):c.1524+16A>G
NM_014714.4(IFT140):c.1524+19G>A
NM_014714.4(IFT140):c.1525-19T>C
NM_014714.4(IFT140):c.1525-74_1525-14del
NM_014714.4(IFT140):c.1530T>C (p.Thr510=) rs2141634694
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1593G>A (p.Gly531=)
NM_014714.4(IFT140):c.1600C>T (p.Leu534=) rs747185980
NM_014714.4(IFT140):c.1605T>C (p.Val535=)
NM_014714.4(IFT140):c.1623T>G (p.Ala541=) rs1269165048
NM_014714.4(IFT140):c.1652+18A>G
NM_014714.4(IFT140):c.1652+20_1652+33del rs2141632142
NM_014714.4(IFT140):c.1652+8T>G rs2141632572
NM_014714.4(IFT140):c.1653-10C>G rs2141597092
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1653-12del rs1466360910
NM_014714.4(IFT140):c.1653-4G>T rs750603473
NM_014714.4(IFT140):c.1653-7C>G
NM_014714.4(IFT140):c.1656G>A (p.Glu552=) rs1188167246
NM_014714.4(IFT140):c.1677C>T (p.Cys559=)
NM_014714.4(IFT140):c.1689G>A (p.Ala563=)
NM_014714.4(IFT140):c.1707G>C (p.Val569=)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.171C>T (p.His57=) rs141882340
NM_014714.4(IFT140):c.1726C>A (p.Arg576=)
NM_014714.4(IFT140):c.1734C>T (p.Ser578=)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1752C>T (p.Ile584=) rs2141595363
NM_014714.4(IFT140):c.1767C>T (p.Ser589=)
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+15C>T
NM_014714.4(IFT140):c.1770+16G>A rs563911349
NM_014714.4(IFT140):c.1770+16G>T rs563911349
NM_014714.4(IFT140):c.1771-10C>T
NM_014714.4(IFT140):c.1771-5_1771-3del rs767298881
NM_014714.4(IFT140):c.178A>C (p.Arg60=) rs2142042835
NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)
NM_014714.4(IFT140):c.1866A>G (p.Arg622=)
NM_014714.4(IFT140):c.1872G>T (p.Thr624=) rs775156902
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)
NM_014714.4(IFT140):c.1901+14T>A
NM_014714.4(IFT140):c.1901+20G>A rs2033701264
NM_014714.4(IFT140):c.1901+8T>C
NM_014714.4(IFT140):c.1902-12T>G rs2033586818
NM_014714.4(IFT140):c.1902-7C>T rs2141543589
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1950C>T (p.Asn650=)
NM_014714.4(IFT140):c.1998G>A (p.Val666=)
NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)
NM_014714.4(IFT140):c.2007G>A (p.Thr669=)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2016C>G (p.Ser672=)
NM_014714.4(IFT140):c.2046A>G (p.Gln682=)
NM_014714.4(IFT140):c.2055C>T (p.Arg685=) rs201447957
NM_014714.4(IFT140):c.2058T>C (p.Ala686=) rs2033572500
NM_014714.4(IFT140):c.2067+8C>G
NM_014714.4(IFT140):c.2068-19A>G
NM_014714.4(IFT140):c.2068-7C>G
NM_014714.4(IFT140):c.2068-7C>T
NM_014714.4(IFT140):c.2068-8T>C
NM_014714.4(IFT140):c.2068-9C>T rs767007478
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
NM_014714.4(IFT140):c.213G>A (p.Pro71=)
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
NM_014714.4(IFT140):c.2151C>G (p.Ser717=)
NM_014714.4(IFT140):c.2157T>C (p.Ser719=)
NM_014714.4(IFT140):c.2160C>A (p.Leu720=) rs751181187
NM_014714.4(IFT140):c.2193A>G (p.Thr731=) rs2033435159
NM_014714.4(IFT140):c.2199+12C>T
NM_014714.4(IFT140):c.2199+20G>A
NM_014714.4(IFT140):c.2199+7A>G
NM_014714.4(IFT140):c.2200-10T>C
NM_014714.4(IFT140):c.2200-14C>T rs1206714111
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2214C>T (p.Asp738=)
NM_014714.4(IFT140):c.2226G>A (p.Glu742=)
NM_014714.4(IFT140):c.2232G>A (p.Glu744=)
NM_014714.4(IFT140):c.2274C>G (p.Pro758=)
NM_014714.4(IFT140):c.2316C>T (p.Thr772=)
NM_014714.4(IFT140):c.2331C>T (p.Leu777=)
NM_014714.4(IFT140):c.2337C>T (p.Phe779=)
NM_014714.4(IFT140):c.2373C>T (p.Ala791=) rs2141465212
NM_014714.4(IFT140):c.2399+19G>C rs2033191634
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-12G>C
NM_014714.4(IFT140):c.2400-16C>A
NM_014714.4(IFT140):c.2400-17C>T rs1245431866
NM_014714.4(IFT140):c.2400-4A>G rs771174483
NM_014714.4(IFT140):c.2427C>A (p.Arg809=)
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2442C>G (p.Thr814=)
NM_014714.4(IFT140):c.2446C>A (p.Arg816=) rs549813139
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) rs549813139
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2500C>A (p.Arg834=)
NM_014714.4(IFT140):c.2517G>T (p.Ala839=)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>T (p.Leu852=) rs779954025
NM_014714.4(IFT140):c.255G>A (p.Val85=)
NM_014714.4(IFT140):c.2565G>A (p.Gln855=)
NM_014714.4(IFT140):c.2577+11C>T
NM_014714.4(IFT140):c.2577+13del rs1487210393
NM_014714.4(IFT140):c.2577+14G>A
NM_014714.4(IFT140):c.2577+8G>T
NM_014714.4(IFT140):c.2578-10C>T
NM_014714.4(IFT140):c.2578-15A>G
NM_014714.4(IFT140):c.2578-19G>A
NM_014714.4(IFT140):c.2578-8T>C rs781483603
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.2616C>T (p.His872=) rs761615768
NM_014714.4(IFT140):c.261G>A (p.Val87=)
NM_014714.4(IFT140):c.2628C>T (p.Asn876=)
NM_014714.4(IFT140):c.2634C>T (p.Phe878=)
NM_014714.4(IFT140):c.2646G>C (p.Ala882=)
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.2679G>A (p.Glu893=)
NM_014714.4(IFT140):c.2685C>T (p.His895=) rs762560105
NM_014714.4(IFT140):c.2694G>A (p.Val898=) rs1555478342
NM_014714.4(IFT140):c.2698C>T (p.Leu900=)
NM_014714.4(IFT140):c.2712C>T (p.Tyr904=) rs1188805365
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2755C>A (p.Arg919=)
NM_014714.4(IFT140):c.2768+11C>G rs1330666788
NM_014714.4(IFT140):c.2768+15C>G rs546649507
NM_014714.4(IFT140):c.2768+15C>T rs546649507
NM_014714.4(IFT140):c.2768+16G>A
NM_014714.4(IFT140):c.2768+19G>A
NM_014714.4(IFT140):c.2768+8C>T rs1044252490
NM_014714.4(IFT140):c.2769-10_2769-8del rs747185911
NM_014714.4(IFT140):c.2769-11T>G
NM_014714.4(IFT140):c.2769-15C>T
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)
NM_014714.4(IFT140):c.2814G>C (p.Leu938=) rs750405092
NM_014714.4(IFT140):c.2820G>A (p.Glu940=) rs2141175137
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2829G>C (p.Pro943=)
NM_014714.4(IFT140):c.2835G>C (p.Leu945=)
NM_014714.4(IFT140):c.2864+18G>T
NM_014714.4(IFT140):c.2864+19G>A
NM_014714.4(IFT140):c.2864+19_2864+27del
NM_014714.4(IFT140):c.2865-15T>C
NM_014714.4(IFT140):c.2865-18G>T
NM_014714.4(IFT140):c.2865-4G>A rs113784788
NM_014714.4(IFT140):c.2865-4G>T rs113784788
NM_014714.4(IFT140):c.2865-8G>T
NM_014714.4(IFT140):c.2868C>A (p.Thr956=)
NM_014714.4(IFT140):c.2868C>T (p.Thr956=)
NM_014714.4(IFT140):c.2869C>T (p.Leu957=)
NM_014714.4(IFT140):c.2886G>T (p.Ala962=)
NM_014714.4(IFT140):c.2904G>A (p.Gln968=)
NM_014714.4(IFT140):c.2907C>A (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2923C>T (p.Leu975=)
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)
NM_014714.4(IFT140):c.2970C>A (p.Ile990=)
NM_014714.4(IFT140):c.2997+11C>T rs551125772
NM_014714.4(IFT140):c.2997+12G>A rs200390733
NM_014714.4(IFT140):c.2997+12G>C
NM_014714.4(IFT140):c.2997+18G>A
NM_014714.4(IFT140):c.2997+20G>A
NM_014714.4(IFT140):c.2997+8C>A
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.2998-14C>A
NM_014714.4(IFT140):c.2998-4C>T rs764678988
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)
NM_014714.4(IFT140):c.3045C>T (p.His1015=) rs2141170948
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)
NM_014714.4(IFT140):c.3078C>T (p.Val1026=)
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=) rs2141170386
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)
NM_014714.4(IFT140):c.3141+15G>C
NM_014714.4(IFT140):c.3141+16G>T
NM_014714.4(IFT140):c.3142-14C>T
NM_014714.4(IFT140):c.3189C>G (p.Ser1063=) rs2141166224
NM_014714.4(IFT140):c.3192C>T (p.Pro1064=)
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=) rs2040596493
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3216A>G (p.Arg1072=)
NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)
NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)
NM_014714.4(IFT140):c.3246C>T (p.Asp1082=)
NM_014714.4(IFT140):c.3270+14A>G
NM_014714.4(IFT140):c.3270+15C>G
NM_014714.4(IFT140):c.3270+17G>A
NM_014714.4(IFT140):c.3270+9T>G
NM_014714.4(IFT140):c.3271-18A>G
NM_014714.4(IFT140):c.3273T>C (p.Ala1091=)
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.3291C>G (p.Ala1097=)
NM_014714.4(IFT140):c.3312C>T (p.Thr1104=) rs2040588187
NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)
NM_014714.4(IFT140):c.3372G>A (p.Ala1124=)
NM_014714.4(IFT140):c.3375C>A (p.Leu1125=)
NM_014714.4(IFT140):c.3375C>T (p.Leu1125=) rs1478734815
NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)
NM_014714.4(IFT140):c.3417C>T (p.Tyr1139=) rs572040196
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3433C>T (p.Leu1145=)
NM_014714.4(IFT140):c.3450G>A (p.Arg1150=)
NM_014714.4(IFT140):c.3453+13C>T
NM_014714.4(IFT140):c.3453+15G>A
NM_014714.4(IFT140):c.3453+20T>G
NM_014714.4(IFT140):c.3454-19C>T
NM_014714.4(IFT140):c.3454-20C>A rs2141148514
NM_014714.4(IFT140):c.3454-4G>C
NM_014714.4(IFT140):c.3454-8C>T rs892113982
NM_014714.4(IFT140):c.345A>G (p.Gly115=)
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3513G>T (p.Ala1171=)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3528G>A (p.Val1176=)
NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)
NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3561G>C (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3562C>A (p.Arg1188=)
NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)
NM_014714.4(IFT140):c.3576G>A (p.Leu1192=) rs2141147573
NM_014714.4(IFT140):c.3579G>A (p.Glu1193=)
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=) rs2040497930
NM_014714.4(IFT140):c.3615C>T (p.Tyr1205=)
NM_014714.4(IFT140):c.3624C>T (p.Ala1208=)
NM_014714.4(IFT140):c.3655C>T (p.Leu1219=)
NM_014714.4(IFT140):c.3660+13C>G
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3661-14G>C
NM_014714.4(IFT140):c.3661-17G>A
NM_014714.4(IFT140):c.3661-20C>T rs1237006550
NM_014714.4(IFT140):c.369+11_369+12del
NM_014714.4(IFT140):c.369+15G>A
NM_014714.4(IFT140):c.369+16C>A
NM_014714.4(IFT140):c.369+20A>G
NM_014714.4(IFT140):c.370-10G>A
NM_014714.4(IFT140):c.370-20G>A rs200779129
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.3717C>T (p.Ser1239=)
NM_014714.4(IFT140):c.3726G>A (p.Arg1242=) rs1023280480
NM_014714.4(IFT140):c.3792G>A (p.Glu1264=)
NM_014714.4(IFT140):c.382C>G (p.Leu128Val)
NM_014714.4(IFT140):c.3843C>G (p.Leu1281=)
NM_014714.4(IFT140):c.3873+16G>C rs2141143932
NM_014714.4(IFT140):c.3873+17G>A
NM_014714.4(IFT140):c.3874-10A>T
NM_014714.4(IFT140):c.3874-18C>T
NM_014714.4(IFT140):c.3874-7T>C rs2141143432
NM_014714.4(IFT140):c.3874-8C>T
NM_014714.4(IFT140):c.3879G>A (p.Glu1293=) rs2040472652
NM_014714.4(IFT140):c.387G>A (p.Leu129=) rs369420968
NM_014714.4(IFT140):c.3909C>G (p.Ala1303=)
NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)
NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)
NM_014714.4(IFT140):c.3963C>T (p.Ser1321=)
NM_014714.4(IFT140):c.4020G>A (p.Lys1340=) rs759849021
NM_014714.4(IFT140):c.4040+12G>A
NM_014714.4(IFT140):c.4040+13G>C
NM_014714.4(IFT140):c.4040+14G>T
NM_014714.4(IFT140):c.4041-11G>A rs1385552425
NM_014714.4(IFT140):c.4041-11G>C
NM_014714.4(IFT140):c.4041-15C>G
NM_014714.4(IFT140):c.4041-18C>G rs373126808
NM_014714.4(IFT140):c.4041-19T>C
NM_014714.4(IFT140):c.4041-9T>C rs2141135557
NM_014714.4(IFT140):c.4059C>A (p.Pro1353=)
NM_014714.4(IFT140):c.4059C>G (p.Pro1353=)
NM_014714.4(IFT140):c.405G>A (p.Arg135=)
NM_014714.4(IFT140):c.4104C>T (p.Asp1368=)
NM_014714.4(IFT140):c.4119C>T (p.Ile1373=)
NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)
NM_014714.4(IFT140):c.4149G>A (p.Val1383=)
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4182+14G>A
NM_014714.4(IFT140):c.4182+20C>G
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4183-12C>G
NM_014714.4(IFT140):c.4183-12C>T rs1486803523
NM_014714.4(IFT140):c.4183-14C>A
NM_014714.4(IFT140):c.4183-19G>A
NM_014714.4(IFT140):c.4183-21_4183-20dup
NM_014714.4(IFT140):c.4183-6C>T rs1461505278
NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)
NM_014714.4(IFT140):c.420G>A (p.Gly140=)
NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)
NM_014714.4(IFT140):c.4221C>A (p.Pro1407=) rs544908970
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)
NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)
NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)
NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)
NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)
NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)
NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)
NM_014714.4(IFT140):c.435A>G (p.Lys145=)
NM_014714.4(IFT140):c.4388G>A (p.Ter1463=) rs1299854506
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
NM_014714.4(IFT140):c.459G>A (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.474G>T (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
NM_014714.4(IFT140):c.491+10G>A
NM_014714.4(IFT140):c.491+11G>T
NM_014714.4(IFT140):c.491+16G>A
NM_014714.4(IFT140):c.492-15C>G
NM_014714.4(IFT140):c.492-19G>A
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
NM_014714.4(IFT140):c.525C>T (p.Ser175=) rs772378665
NM_014714.4(IFT140):c.54C>G (p.Pro18=)
NM_014714.4(IFT140):c.634+13G>C
NM_014714.4(IFT140):c.634+9C>G
NM_014714.4(IFT140):c.635-12G>A rs12447357
NM_014714.4(IFT140):c.678G>C (p.Val226=) rs1270248004
NM_014714.4(IFT140):c.681G>A (p.Val227=)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.724A>C (p.Arg242=)
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.78C>G (p.Val26=)
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
NM_014714.4(IFT140):c.810+14G>A
NM_014714.4(IFT140):c.810+7G>A
NM_014714.4(IFT140):c.811-11dup rs2034984327
NM_014714.4(IFT140):c.811-18G>A rs371769718
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
NM_014714.4(IFT140):c.836G>A (p.Arg279His) rs4786350
NM_014714.4(IFT140):c.864C>A (p.Gly288=)
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.873C>T (p.Leu291=)
NM_014714.4(IFT140):c.903-8T>C
NM_014714.4(IFT140):c.903-9C>T rs373647468
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
NM_014714.4(IFT140):c.951G>A (p.Glu317=) rs2141851936
NM_014714.4(IFT140):c.975G>A (p.Glu325=) rs1330112951
NM_014714.4(IFT140):c.9C>G (p.Leu3=)
NM_014956.5(CEP164):c.1017T>C (p.Pro339=)
NM_014956.5(CEP164):c.1035G>A (p.Lys345=)
NM_014956.5(CEP164):c.1116T>G (p.Ala372=) rs2042180843
NM_014956.5(CEP164):c.1123C>T (p.Leu375=)
NM_014956.5(CEP164):c.1152+15C>T rs2135919720
NM_014956.5(CEP164):c.1152+18A>G
NM_014956.5(CEP164):c.1153-10G>A
NM_014956.5(CEP164):c.1153-15G>A
NM_014956.5(CEP164):c.1153-15G>T rs372749388
NM_014956.5(CEP164):c.1153-4C>T
NM_014956.5(CEP164):c.1155A>G (p.Glu385=) rs1318886330
NM_014956.5(CEP164):c.1164T>C (p.Ile388=)
NM_014956.5(CEP164):c.1230C>T (p.Gly410=)
NM_014956.5(CEP164):c.1233+16G>A
NM_014956.5(CEP164):c.1233+18del rs2135973306
NM_014956.5(CEP164):c.1233+19C>T
NM_014956.5(CEP164):c.1233+7T>G
NM_014956.5(CEP164):c.1234-16T>C
NM_014956.5(CEP164):c.1257C>T (p.Ile419=) rs2136010416
NM_014956.5(CEP164):c.1260G>A (p.Ser420=)
NM_014956.5(CEP164):c.1267C>T (p.Leu423=)
NM_014956.5(CEP164):c.1270C>T (p.Leu424=)
NM_014956.5(CEP164):c.12A>G (p.Arg4=)
NM_014956.5(CEP164):c.1314G>A (p.Arg438=)
NM_014956.5(CEP164):c.1317+10T>G
NM_014956.5(CEP164):c.1317+15G>A rs2136012033
NM_014956.5(CEP164):c.1317+16T>G
NM_014956.5(CEP164):c.1318-9C>G rs576006225
NM_014956.5(CEP164):c.1347G>A (p.Lys449=)
NM_014956.5(CEP164):c.1353C>T (p.Asp451=)
NM_014956.5(CEP164):c.1362C>T (p.Ser454=) rs1163809267
NM_014956.5(CEP164):c.1409+11T>A
NM_014956.5(CEP164):c.1409+15A>G rs2136118708
NM_014956.5(CEP164):c.1410-11G>T rs537713728
NM_014956.5(CEP164):c.1410-17C>T
NM_014956.5(CEP164):c.1410-20G>A rs749252841
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1491C>T (p.Gly497=) rs762218626
NM_014956.5(CEP164):c.1494C>T (p.Pro498=)
NM_014956.5(CEP164):c.1530T>C (p.Leu510=)
NM_014956.5(CEP164):c.1566G>C (p.Leu522=)
NM_014956.5(CEP164):c.1577+13G>A
NM_014956.5(CEP164):c.1577+19A>T
NM_014956.5(CEP164):c.1577+20T>C
NM_014956.5(CEP164):c.1577+9G>A rs953315440
NM_014956.5(CEP164):c.1578-17T>G rs2136164009
NM_014956.5(CEP164):c.1578-4C>T
NM_014956.5(CEP164):c.1578-6A>C
NM_014956.5(CEP164):c.15C>T (p.Pro5=)
NM_014956.5(CEP164):c.1608T>C (p.Cys536=) rs750310170
NM_014956.5(CEP164):c.162C>T (p.Ile54=)
NM_014956.5(CEP164):c.1638C>G (p.Ala546=) rs144199348
NM_014956.5(CEP164):c.1638C>T (p.Ala546=) rs144199348
NM_014956.5(CEP164):c.1645C>T (p.Leu549=)
NM_014956.5(CEP164):c.1647G>A (p.Leu549=) rs1248770335
NM_014956.5(CEP164):c.165G>C (p.Val55=)
NM_014956.5(CEP164):c.1662A>G (p.Glu554=)
NM_014956.5(CEP164):c.1707G>T (p.Pro569=)
NM_014956.5(CEP164):c.1713C>G (p.Val571=)
NM_014956.5(CEP164):c.1724+11G>T
NM_014956.5(CEP164):c.1724+15TG[2] rs2136168451
NM_014956.5(CEP164):c.1724+18G>A rs763203356
NM_014956.5(CEP164):c.1725-13C>T
NM_014956.5(CEP164):c.1725-4G>A rs2136244171
NM_014956.5(CEP164):c.1749C>G (p.Pro583=)
NM_014956.5(CEP164):c.1776A>G (p.Leu592=)
NM_014956.5(CEP164):c.1830G>C (p.Leu610=)
NM_014956.5(CEP164):c.1839C>T (p.Ser613=)
NM_014956.5(CEP164):c.183G>A (p.Glu61=) rs745920052
NM_014956.5(CEP164):c.1857G>A (p.Gln619=)
NM_014956.5(CEP164):c.1863G>A (p.Leu621=) rs775253337
NM_014956.5(CEP164):c.192A>C (p.Pro64=)
NM_014956.5(CEP164):c.192A>G (p.Pro64=)
NM_014956.5(CEP164):c.1934+14C>T rs2136247656
NM_014956.5(CEP164):c.1934+8C>G
NM_014956.5(CEP164):c.1935-14C>T rs2044543490
NM_014956.5(CEP164):c.1935-15del
NM_014956.5(CEP164):c.1935-8C>T
NM_014956.5(CEP164):c.194+10C>T rs1468150420
NM_014956.5(CEP164):c.194+11A>G
NM_014956.5(CEP164):c.194+12G>A rs749099996
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.194+16G>T rs574862830
NM_014956.5(CEP164):c.194+19C>A
NM_014956.5(CEP164):c.194+20_194+25del
NM_014956.5(CEP164):c.194+9G>C
NM_014956.5(CEP164):c.1947G>A (p.Glu649=)
NM_014956.5(CEP164):c.1980C>A (p.Ala660=)
NM_014956.5(CEP164):c.1983G>T (p.Arg661=)
NM_014956.5(CEP164):c.1998A>G (p.Glu666=)
NM_014956.5(CEP164):c.2025T>C (p.Ala675=)
NM_014956.5(CEP164):c.2066+11_2066+12del
NM_014956.5(CEP164):c.2066+20T>C rs2136319924
NM_014956.5(CEP164):c.2066+9G>A rs374648188
NM_014956.5(CEP164):c.2067-16C>T rs758674918
NM_014956.5(CEP164):c.2067-6A>G
NM_014956.5(CEP164):c.2085C>T (p.Ser695=)
NM_014956.5(CEP164):c.2133G>A (p.Arg711=)
NM_014956.5(CEP164):c.2169G>A (p.Glu723=)
NM_014956.5(CEP164):c.2184G>A (p.Glu728=)
NM_014956.5(CEP164):c.2199G>A (p.Glu733=) rs2136324303
NM_014956.5(CEP164):c.2229A>G (p.Ala743=)
NM_014956.5(CEP164):c.2238G>A (p.Lys746=)
NM_014956.5(CEP164):c.2259G>A (p.Glu753=) rs761803143
NM_014956.5(CEP164):c.2284-16C>T
NM_014956.5(CEP164):c.2284-6C>T
NM_014956.5(CEP164):c.2292A>C (p.Ala764=)
NM_014956.5(CEP164):c.2295G>A (p.Thr765=)
NM_014956.5(CEP164):c.2295G>T (p.Thr765=)
NM_014956.5(CEP164):c.2320C>T (p.Leu774=)
NM_014956.5(CEP164):c.2341T>C (p.Leu781=)
NM_014956.5(CEP164):c.2358G>A (p.Arg786=) rs2136351691
NM_014956.5(CEP164):c.2361+12C>T
NM_014956.5(CEP164):c.2361+15C>T rs775505362
NM_014956.5(CEP164):c.2361+16C>T rs2044762724
NM_014956.5(CEP164):c.2362-10dup rs1565579377
NM_014956.5(CEP164):c.2362-5_2362-3del
NM_014956.5(CEP164):c.2362-8C>T
NM_014956.5(CEP164):c.2367C>T (p.Val789=) rs747171653
NM_014956.5(CEP164):c.2376C>T (p.Leu792=) rs2044797581
NM_014956.5(CEP164):c.2418G>A (p.Gln806=) rs759540777
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2466T>G (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2478T>G (p.Ala826=) rs2136360090
NM_014956.5(CEP164):c.2490C>T (p.His830=)
NM_014956.5(CEP164):c.2493+8C>T
NM_014956.5(CEP164):c.2505C>T (p.Leu835=) rs1368347260
NM_014956.5(CEP164):c.2506C>T (p.Leu836=) rs2044887722
NM_014956.5(CEP164):c.2509C>A (p.Arg837=)
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu) rs201901144
NM_014956.5(CEP164):c.2529G>T (p.Val843=)
NM_014956.5(CEP164):c.2601G>A (p.Glu867=)
NM_014956.5(CEP164):c.2607T>C (p.Tyr869=)
NM_014956.5(CEP164):c.2613T>C (p.Ala871=) rs768196435
NM_014956.5(CEP164):c.2616+11C>G
NM_014956.5(CEP164):c.2616+11C>T
NM_014956.5(CEP164):c.2616+12A>G
NM_014956.5(CEP164):c.2616+16C>A
NM_014956.5(CEP164):c.2617-17G>A
NM_014956.5(CEP164):c.2617-17G>T
NM_014956.5(CEP164):c.2620A>C (p.Arg874=)
NM_014956.5(CEP164):c.2625G>A (p.Lys875=) rs953747200
NM_014956.5(CEP164):c.2671C>T (p.Leu891=)
NM_014956.5(CEP164):c.267C>T (p.Asp89=)
NM_014956.5(CEP164):c.2685T>C (p.His895=) rs2136419237
NM_014956.5(CEP164):c.2697G>A (p.Leu899=)
NM_014956.5(CEP164):c.2724G>A (p.Lys908=)
NM_014956.5(CEP164):c.2746C>A (p.Arg916=) rs1055666351
NM_014956.5(CEP164):c.2754G>A (p.Arg918=)
NM_014956.5(CEP164):c.2760+13G>A
NM_014956.5(CEP164):c.2760+18G>T
NM_014956.5(CEP164):c.2760+19G>C
NM_014956.5(CEP164):c.2761-12C>G
NM_014956.5(CEP164):c.2769G>A (p.Lys923=) rs758053625
NM_014956.5(CEP164):c.2781A>G (p.Leu927=)
NM_014956.5(CEP164):c.2793T>G (p.Leu931=)
NM_014956.5(CEP164):c.282C>T (p.Ser94=)
NM_014956.5(CEP164):c.2844+13C>T
NM_014956.5(CEP164):c.2844+20C>T
NM_014956.5(CEP164):c.2845-9C>G
NM_014956.5(CEP164):c.2845-9C>T
NM_014956.5(CEP164):c.2913+10C>T rs1221685717
NM_014956.5(CEP164):c.2913+20C>T
NM_014956.5(CEP164):c.2914-13C>T rs370773217
NM_014956.5(CEP164):c.2914-5C>T rs2136450157
NM_014956.5(CEP164):c.2914-6C>T
NM_014956.5(CEP164):c.2937G>A (p.Gln979=) rs2136450553
NM_014956.5(CEP164):c.2946G>A (p.Glu982=)
NM_014956.5(CEP164):c.2970G>A (p.Leu990=)
NM_014956.5(CEP164):c.2971T>C (p.Leu991=)
NM_014956.5(CEP164):c.2985G>A (p.Gln995=)
NM_014956.5(CEP164):c.2991C>G (p.Leu997=)
NM_014956.5(CEP164):c.2991C>T (p.Leu997=) rs765549940
NM_014956.5(CEP164):c.3039C>G (p.Ser1013=) rs778620459
NM_014956.5(CEP164):c.3089+11C>A rs773782390
NM_014956.5(CEP164):c.3089+16T>C
NM_014956.5(CEP164):c.3089+19A>C
NM_014956.5(CEP164):c.3090-10C>G
NM_014956.5(CEP164):c.3096G>A (p.Leu1032=)
NM_014956.5(CEP164):c.3111A>G (p.Gln1037=)
NM_014956.5(CEP164):c.3126G>A (p.Leu1042=)
NM_014956.5(CEP164):c.3144T>A (p.Val1048=) rs886038608
NM_014956.5(CEP164):c.3216+10G>C rs768750499
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.3217-19T>C
NM_014956.5(CEP164):c.3217-20T>A
NM_014956.5(CEP164):c.3278+12T>C rs2136483935
NM_014956.5(CEP164):c.3279-12C>A
NM_014956.5(CEP164):c.3279-7G>T
NM_014956.5(CEP164):c.3279-8T>C rs771735947
NM_014956.5(CEP164):c.3279-8_3279-3del rs2136498231
NM_014956.5(CEP164):c.3285C>T (p.Ser1095=)
NM_014956.5(CEP164):c.3294T>C (p.Asn1098=)
NM_014956.5(CEP164):c.3297C>G (p.Val1099=)
NM_014956.5(CEP164):c.3303C>T (p.His1101=) rs2136499348
NM_014956.5(CEP164):c.3324A>G (p.Val1108=)
NM_014956.5(CEP164):c.3336T>C (p.Ser1112=)
NM_014956.5(CEP164):c.333G>A (p.Lys111=) rs568554283
NM_014956.5(CEP164):c.3373C>A (p.Arg1125=) rs372830445
NM_014956.5(CEP164):c.3387A>G (p.Thr1129=) rs2136502466
NM_014956.5(CEP164):c.3396A>G (p.Lys1132=)
NM_014956.5(CEP164):c.339A>G (p.Lys113=) rs1443066781
NM_014956.5(CEP164):c.3411T>C (p.His1137=) rs2045591121
NM_014956.5(CEP164):c.3435G>T (p.Ala1145=) rs149964584
NM_014956.5(CEP164):c.3459A>G (p.Pro1153=) rs1168571708
NM_014956.5(CEP164):c.3471C>A (p.Ala1157=) rs1045099586
NM_014956.5(CEP164):c.3471C>T (p.Ala1157=)
NM_014956.5(CEP164):c.3501+17A>G
NM_014956.5(CEP164):c.3501+8G>A rs568399224
NM_014956.5(CEP164):c.3502-12C>T
NM_014956.5(CEP164):c.3502-6C>T
NM_014956.5(CEP164):c.3510G>A (p.Arg1170=) rs2136879549
NM_014956.5(CEP164):c.3538C>A (p.Arg1180=) rs557730163
NM_014956.5(CEP164):c.3543A>G (p.Lys1181=)
NM_014956.5(CEP164):c.3549C>T (p.His1183=)
NM_014956.5(CEP164):c.3570G>A (p.Glu1190=)
NM_014956.5(CEP164):c.3609+20T>A
NM_014956.5(CEP164):c.3610-13C>T
NM_014956.5(CEP164):c.3610-5C>T
NM_014956.5(CEP164):c.3654A>G (p.Ala1218=)
NM_014956.5(CEP164):c.3684C>T (p.Ser1228=)
NM_014956.5(CEP164):c.36G>T (p.Leu12=)
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=) rs1457505922
NM_014956.5(CEP164):c.3738G>A (p.Arg1246=)
NM_014956.5(CEP164):c.3748+11G>A
NM_014956.5(CEP164):c.3748+17C>A rs373984666
NM_014956.5(CEP164):c.3748+7G>A rs767096820
NM_014956.5(CEP164):c.3748+7G>C rs767096820
NM_014956.5(CEP164):c.3748+7G>T rs767096820
NM_014956.5(CEP164):c.3750C>T (p.Ile1250=)
NM_014956.5(CEP164):c.3762G>A (p.Pro1254=)
NM_014956.5(CEP164):c.3768C>T (p.Leu1256=) rs779372158
NM_014956.5(CEP164):c.3771C>T (p.Thr1257=)
NM_014956.5(CEP164):c.3789G>A (p.Gly1263=)
NM_014956.5(CEP164):c.3798C>T (p.His1266=)
NM_014956.5(CEP164):c.3801C>T (p.Ser1267=) rs2136934357
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.381C>A (p.Pro127=) rs375951540
NM_014956.5(CEP164):c.381C>G (p.Pro127=) rs375951540
NM_014956.5(CEP164):c.381C>T (p.Pro127=)
NM_014956.5(CEP164):c.3843C>T (p.Ile1281=) rs2136935341
NM_014956.5(CEP164):c.3870G>A (p.Pro1290=)
NM_014956.5(CEP164):c.394-18A>C rs201463212
NM_014956.5(CEP164):c.394-6G>T rs2135688046
NM_014956.5(CEP164):c.394-7T>C rs2135687974
NM_014956.5(CEP164):c.394-9G>A
NM_014956.5(CEP164):c.3975A>G (p.Ser1325=)
NM_014956.5(CEP164):c.3990G>A (p.Thr1330=)
NM_014956.5(CEP164):c.3996C>T (p.Thr1332=) rs199648719
NM_014956.5(CEP164):c.4059C>T (p.Asp1353=)
NM_014956.5(CEP164):c.4096+12T>A
NM_014956.5(CEP164):c.4096+17G>A
NM_014956.5(CEP164):c.4097-13C>T
NM_014956.5(CEP164):c.4097-18G>C rs2136968340
NM_014956.5(CEP164):c.4113C>T (p.Leu1371=) rs998316543
NM_014956.5(CEP164):c.4122C>T (p.Ser1374=)
NM_014956.5(CEP164):c.4131G>T (p.Pro1377=) rs141080271
NM_014956.5(CEP164):c.4132C>T (p.Leu1378=)
NM_014956.5(CEP164):c.4137G>A (p.Glu1379=) rs2136970360
NM_014956.5(CEP164):c.4140C>T (p.Ser1380=) rs746720978
NM_014956.5(CEP164):c.4152C>T (p.Tyr1384=)
NM_014956.5(CEP164):c.4163+14G>A
NM_014956.5(CEP164):c.4163+16G>T rs2136971795
NM_014956.5(CEP164):c.4164-10T>G
NM_014956.5(CEP164):c.4164-17C>T
NM_014956.5(CEP164):c.4164-9C>A
NM_014956.5(CEP164):c.4203C>T (p.Val1401=)
NM_014956.5(CEP164):c.4212G>C (p.Ala1404=) rs369998799
NM_014956.5(CEP164):c.4224C>T (p.Thr1408=) rs1423587348
NM_014956.5(CEP164):c.4249C>A (p.Arg1417=) rs745904143
NM_014956.5(CEP164):c.4260G>T (p.Leu1420=)
NM_014956.5(CEP164):c.4269C>G (p.Val1423=)
NM_014956.5(CEP164):c.4284G>A (p.Arg1428=) rs774452782
NM_014956.5(CEP164):c.4286+16G>T
NM_014956.5(CEP164):c.4299G>C (p.Ser1433=)
NM_014956.5(CEP164):c.429T>C (p.Pro143=)
NM_014956.5(CEP164):c.4308C>G (p.Pro1436=)
NM_014956.5(CEP164):c.4356C>T (p.His1452=)
NM_014956.5(CEP164):c.4362A>G (p.Arg1454=)
NM_014956.5(CEP164):c.444T>G (p.Ala148=) rs2135689461
NM_014956.5(CEP164):c.456T>C (p.Gly152=) rs2135689791
NM_014956.5(CEP164):c.495A>G (p.Gln165=)
NM_014956.5(CEP164):c.516A>G (p.Ser172=) rs2135691137
NM_014956.5(CEP164):c.519G>A (p.Val173=) rs2135691164
NM_014956.5(CEP164):c.522G>A (p.Glu174=)
NM_014956.5(CEP164):c.552+14C>G rs754626177
NM_014956.5(CEP164):c.552+14C>T
NM_014956.5(CEP164):c.553-14_553-12del
NM_014956.5(CEP164):c.553-7T>C
NM_014956.5(CEP164):c.553-8T>C rs2135702598
NM_014956.5(CEP164):c.564T>C (p.Gly188=) rs2135703118
NM_014956.5(CEP164):c.573C>T (p.Thr191=)
NM_014956.5(CEP164):c.595T>C (p.Leu199=)
NM_014956.5(CEP164):c.687+12G>A
NM_014956.5(CEP164):c.687+16T>C
NM_014956.5(CEP164):c.687+19C>T
NM_014956.5(CEP164):c.687+8T>C
NM_014956.5(CEP164):c.688-15C>T rs2135722788
NM_014956.5(CEP164):c.688-17A>C
NM_014956.5(CEP164):c.688-4C>T
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_014956.5(CEP164):c.693C>G (p.Val231=)
NM_014956.5(CEP164):c.705T>C (p.Ser235=) rs1316790259
NM_014956.5(CEP164):c.708G>A (p.Glu236=) rs770827539
NM_014956.5(CEP164):c.765+12A>G
NM_014956.5(CEP164):c.765+19A>G
NM_014956.5(CEP164):c.765+20C>T
NM_014956.5(CEP164):c.765+7_765+16del
NM_014956.5(CEP164):c.765+8C>T rs2041253275
NM_014956.5(CEP164):c.766-15T>C
NM_014956.5(CEP164):c.766-16_766-9del
NM_014956.5(CEP164):c.766-5C>T
NM_014956.5(CEP164):c.771T>C (p.Ser257=)
NM_014956.5(CEP164):c.82+16del
NM_014956.5(CEP164):c.82+19G>C
NM_014956.5(CEP164):c.83-15T>G
NM_014956.5(CEP164):c.861A>C (p.Pro287=)
NM_014956.5(CEP164):c.867A>G (p.Ala289=)
NM_014956.5(CEP164):c.942G>A (p.Glu314=) rs2042169087
NM_014956.5(CEP164):c.948T>C (p.Asn316=)
NM_014956.5(CEP164):c.954G>A (p.Lys318=) rs1311734878
NM_014956.5(CEP164):c.99C>G (p.Ala33=)
NM_015102.5(NPHP4):c.1119+18G>A rs1172328337
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3231+7dup rs2100617783
NM_015102.5(NPHP4):c.3232-10del rs757249675
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=) rs890957347
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.674-10A>G rs1031299307
NM_015120.4(ALMS1):c.-39CTC[4] rs746980000
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
NM_015272.5(RPGRIP1L):c.1029+10C>T rs542635220
NM_015272.5(RPGRIP1L):c.1029+15A>C
NM_015272.5(RPGRIP1L):c.1029+15A>T
NM_015272.5(RPGRIP1L):c.1029+16G>A
NM_015272.5(RPGRIP1L):c.1029+9C>G rs2151244866
NM_015272.5(RPGRIP1L):c.1029+9C>T
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=) rs1598420614
NM_015272.5(RPGRIP1L):c.1030-13A>G
NM_015272.5(RPGRIP1L):c.1030-15T>G
NM_015272.5(RPGRIP1L):c.1030-18A>G
NM_015272.5(RPGRIP1L):c.1030-20T>C
NM_015272.5(RPGRIP1L):c.1030-7A>G rs2151236913
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=) rs1437242760
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=) rs2151236754
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=) rs2151236607
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=) rs2151236560
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=)
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=) rs2151236444
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=)
NM_015272.5(RPGRIP1L):c.1103+15C>T
NM_015272.5(RPGRIP1L):c.1103+17T>G
NM_015272.5(RPGRIP1L):c.1103+18G>A
NM_015272.5(RPGRIP1L):c.1103+18G>C
NM_015272.5(RPGRIP1L):c.1103+18del
NM_015272.5(RPGRIP1L):c.1103+8G>A rs564455571
NM_015272.5(RPGRIP1L):c.1103+9T>A
NM_015272.5(RPGRIP1L):c.1103+9T>C rs2151236168
NM_015272.5(RPGRIP1L):c.1104-13G>T
NM_015272.5(RPGRIP1L):c.1104-4G>C
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=) rs2151199080
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=)
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=) rs1347730821
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=)
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=)
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=) rs2151198800
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=) rs2151379752
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=)
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=) rs2151198681
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=) rs1271430052
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=) rs759115653
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=) rs763892496
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=) rs1660515981
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=)
NM_015272.5(RPGRIP1L):c.1243+7T>A rs1302178966
NM_015272.5(RPGRIP1L):c.1243+8T>C rs2151198059
NM_015272.5(RPGRIP1L):c.1243+9G>A rs781524446
NM_015272.5(RPGRIP1L):c.1244-10del rs1967515071
NM_015272.5(RPGRIP1L):c.1244-19T>C
NM_015272.5(RPGRIP1L):c.1244-9A>G rs2151165404
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=) rs2151165227
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=) rs1423077786
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=) rs2151164876
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=) rs1967498439
NM_015272.5(RPGRIP1L):c.1350+15T>G
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del
NM_015272.5(RPGRIP1L):c.1351-12A>C
NM_015272.5(RPGRIP1L):c.1351-12A>G rs374000859
NM_015272.5(RPGRIP1L):c.1351-13dup
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del
NM_015272.5(RPGRIP1L):c.1351-16A>T
NM_015272.5(RPGRIP1L):c.1351-18T>C
NM_015272.5(RPGRIP1L):c.1351-4G>A rs1479026011
NM_015272.5(RPGRIP1L):c.1351-9C>T
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=) rs2151162320
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
NM_015272.5(RPGRIP1L):c.1401+12A>T rs2151161924
NM_015272.5(RPGRIP1L):c.1401+13A>G
NM_015272.5(RPGRIP1L):c.1401+14C>T
NM_015272.5(RPGRIP1L):c.1401+16T>C
NM_015272.5(RPGRIP1L):c.1401+18A>G
NM_015272.5(RPGRIP1L):c.1401+20C>A
NM_015272.5(RPGRIP1L):c.1401+20C>T
NM_015272.5(RPGRIP1L):c.1401+8T>C rs2151161961
NM_015272.5(RPGRIP1L):c.1401+9C>G rs768434507
NM_015272.5(RPGRIP1L):c.1401+9C>T rs768434507
NM_015272.5(RPGRIP1L):c.1402-11T>C
NM_015272.5(RPGRIP1L):c.1402-13dup rs1361189318
NM_015272.5(RPGRIP1L):c.1402-14G>A
NM_015272.5(RPGRIP1L):c.1402-18A>G
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=) rs2151157523
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=) rs2151157400
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del) rs760952407
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=) rs2151157288
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=) rs2151157214
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=) rs777340505
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=) rs2151156589
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=) rs1472969606
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=) rs1238972011
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=) rs780528142
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=) rs1020243535
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=) rs1970746720
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
NM_015272.5(RPGRIP1L):c.1581+11dup
NM_015272.5(RPGRIP1L):c.1581+15T>G
NM_015272.5(RPGRIP1L):c.1581+17A>G
NM_015272.5(RPGRIP1L):c.1581+20G>A
NM_015272.5(RPGRIP1L):c.1581+20G>C
NM_015272.5(RPGRIP1L):c.1581+9A>G
NM_015272.5(RPGRIP1L):c.1582-20T>G
NM_015272.5(RPGRIP1L):c.1582-4G>A rs1967278713
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=) rs1178582517
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=) rs2151150317
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=)
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=) rs2151150242
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=) rs1227717832
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=)
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=)
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=) rs2151149921
NM_015272.5(RPGRIP1L):c.1699+13C>T rs1212500499
NM_015272.5(RPGRIP1L):c.1699+14G>A rs188075133
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1699+17T>A
NM_015272.5(RPGRIP1L):c.1699+9T>C
NM_015272.5(RPGRIP1L):c.1700-16G>T rs1555604481
NM_015272.5(RPGRIP1L):c.1700-4G>A rs1966916853
NM_015272.5(RPGRIP1L):c.1700-4G>T rs1966916853
NM_015272.5(RPGRIP1L):c.1700-9C>G
NM_015272.5(RPGRIP1L):c.1700-9C>T rs2151128760
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=) rs2151128298
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=) rs2151128005
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=)
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=) rs2151127604
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=)
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=)
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=)
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=) rs756141067
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=) rs781049099
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=)
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=)
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=)
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=) rs2151126933
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=)
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=) rs2151126431
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=) rs1213772384
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=) rs2151125842
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=) rs2151379187
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=) rs2151125697
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=)
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=)
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=)
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
NM_015272.5(RPGRIP1L):c.2152+10A>C rs1966875026
NM_015272.5(RPGRIP1L):c.2152+10A>G
NM_015272.5(RPGRIP1L):c.2152+11T>C
NM_015272.5(RPGRIP1L):c.2152+19C>A rs754811161
NM_015272.5(RPGRIP1L):c.2152+19C>G rs754811161
NM_015272.5(RPGRIP1L):c.2152+7A>G
NM_015272.5(RPGRIP1L):c.2152+8C>G rs2151124212
NM_015272.5(RPGRIP1L):c.2153-12A>G rs2151102687
NM_015272.5(RPGRIP1L):c.2153-13T>C
NM_015272.5(RPGRIP1L):c.2153-14G>A
NM_015272.5(RPGRIP1L):c.2153-14G>C
NM_015272.5(RPGRIP1L):c.2153-15T>C
NM_015272.5(RPGRIP1L):c.2153-16A>G
NM_015272.5(RPGRIP1L):c.2153-16A>T
NM_015272.5(RPGRIP1L):c.2153-19G>A
NM_015272.5(RPGRIP1L):c.2153-19G>T rs988899852
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del
NM_015272.5(RPGRIP1L):c.2153-4G>A rs201380599
NM_015272.5(RPGRIP1L):c.2153-5del
NM_015272.5(RPGRIP1L):c.2153-7T>A
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=) rs1472949647
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=) rs2151102385
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=)
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=)
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=)
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=)
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=) rs267604575
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=) rs2151101997
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=) rs2151101953
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=) rs2151379048
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=) rs775616241
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=) rs2151101735
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=) rs2151101706
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=)
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=) rs769599317
NM_015272.5(RPGRIP1L):c.230+10A>G
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.230+14G>T
NM_015272.5(RPGRIP1L):c.230+17T>C
NM_015272.5(RPGRIP1L):c.230+18T>G
NM_015272.5(RPGRIP1L):c.230+19T>C
NM_015272.5(RPGRIP1L):c.230+9A>G rs774753693
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=) rs1338012833
NM_015272.5(RPGRIP1L):c.2304+12T>G
NM_015272.5(RPGRIP1L):c.2304+14G>C
NM_015272.5(RPGRIP1L):c.2304+18T>A
NM_015272.5(RPGRIP1L):c.2304+18T>C rs780469767
NM_015272.5(RPGRIP1L):c.2304+8C>T rs1421469718
NM_015272.5(RPGRIP1L):c.2304+9A>C
NM_015272.5(RPGRIP1L):c.2304+9A>G rs1461433745
NM_015272.5(RPGRIP1L):c.2304+9A>T rs1461433745
NM_015272.5(RPGRIP1L):c.2305-11T>C
NM_015272.5(RPGRIP1L):c.2305-15T>C
NM_015272.5(RPGRIP1L):c.2305-8T>C
NM_015272.5(RPGRIP1L):c.2305-8T>G rs953486434
NM_015272.5(RPGRIP1L):c.231-10A>C
NM_015272.5(RPGRIP1L):c.231-13A>C
NM_015272.5(RPGRIP1L):c.231-4C>G rs774628905
NM_015272.5(RPGRIP1L):c.231-5C>T
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=) rs2151084071
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=) rs1435869251
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=)
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=)
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=) rs1468139751
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=) rs1481436139
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=) rs2151083713
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=) rs1567830747
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=)
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=) rs1966512167
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=) rs771774137
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=)
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=)
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=) rs2151083124
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=) rs778075524
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=)
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=) rs2151082787
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=) rs2151082774
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=)
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=) rs2151082740
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=)
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=) rs760455293
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=) rs1966500554
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=) rs2151082234
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=)
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=) rs546554009
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=)
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=) rs1567829935
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=) rs752587948
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=) rs1434968352
NM_015272.5(RPGRIP1L):c.2683+15T>C
NM_015272.5(RPGRIP1L):c.2683+15T>G
NM_015272.5(RPGRIP1L):c.2684-14T>A
NM_015272.5(RPGRIP1L):c.2684-14T>C
NM_015272.5(RPGRIP1L):c.2684-15A>C
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=) rs1038661631
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=)
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=) rs780925825
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=) rs746733895
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=) rs2151059675
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=) rs2151059581
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=) rs1567825162
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=) rs1293313012
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=)
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=)
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=) rs1966206646
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=) rs2151353718
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=) rs2151058811
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.2874+10A>C
NM_015272.5(RPGRIP1L):c.2874+11G>A
NM_015272.5(RPGRIP1L):c.2874+13G>A
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del
NM_015272.5(RPGRIP1L):c.2875-15G>A
NM_015272.5(RPGRIP1L):c.2875-17T>C
NM_015272.5(RPGRIP1L):c.2875-20C>T
NM_015272.5(RPGRIP1L):c.2875-4T>C rs2151057424
NM_015272.5(RPGRIP1L):c.2875-5C>G
NM_015272.5(RPGRIP1L):c.2875-5C>T rs758927533
NM_015272.5(RPGRIP1L):c.2875-6T>C
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=) rs1459496882
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=)
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=) rs766575191
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=) rs2151056978
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=) rs765369037
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
NM_015272.5(RPGRIP1L):c.2958+10A>G rs2151056471
NM_015272.5(RPGRIP1L):c.2958+11G>T
NM_015272.5(RPGRIP1L):c.2958+12A>G
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup rs2151056517
NM_015272.5(RPGRIP1L):c.2959-11A>G
NM_015272.5(RPGRIP1L):c.2959-12C>T
NM_015272.5(RPGRIP1L):c.2959-13A>G
NM_015272.5(RPGRIP1L):c.2959-8A>G
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=) rs2151040746
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=) rs2151040617
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=)
NM_015272.5(RPGRIP1L):c.3045_3060+12dup
NM_015272.5(RPGRIP1L):c.3060+10T>A rs2151039825
NM_015272.5(RPGRIP1L):c.3060+7A>G
NM_015272.5(RPGRIP1L):c.3060+8T>C
NM_015272.5(RPGRIP1L):c.3061-18G>T
NM_015272.5(RPGRIP1L):c.3061-7T>C rs1965940741
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=)
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=)
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=) rs1965938868
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=) rs1965937231
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=) rs1306386140
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=) rs2151036210
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=) rs2151036177
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=)
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=)
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=)
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=) rs1965928165
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3220+7T>G
NM_015272.5(RPGRIP1L):c.3220+8T>C
NM_015272.5(RPGRIP1L):c.3221-14T>A rs761174078
NM_015272.5(RPGRIP1L):c.3221-15T>C
NM_015272.5(RPGRIP1L):c.3221-17T>C
NM_015272.5(RPGRIP1L):c.3221-20C>T
NM_015272.5(RPGRIP1L):c.3221-7T>C rs1170674790
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=)
NM_015272.5(RPGRIP1L):c.3294+10T>C rs201237327
NM_015272.5(RPGRIP1L):c.3294+11T>C
NM_015272.5(RPGRIP1L):c.3294+17C>T
NM_015272.5(RPGRIP1L):c.3294+19A>G
NM_015272.5(RPGRIP1L):c.3294+9C>T
NM_015272.5(RPGRIP1L):c.3295-10T>G
NM_015272.5(RPGRIP1L):c.3295-16T>A
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC
NM_015272.5(RPGRIP1L):c.3295-20T>G
NM_015272.5(RPGRIP1L):c.3295-4A>G
NM_015272.5(RPGRIP1L):c.3295-6A>G
NM_015272.5(RPGRIP1L):c.3295-7dup
NM_015272.5(RPGRIP1L):c.3295-9T>C
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=) rs1970437460
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=)
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=)
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=)
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=)
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=)
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=)
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=)
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=)
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=)
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=) rs1970436686
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=)
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
NM_015272.5(RPGRIP1L):c.3432+13A>T
NM_015272.5(RPGRIP1L):c.3432+20G>T
NM_015272.5(RPGRIP1L):c.3433-13G>T
NM_015272.5(RPGRIP1L):c.3433-7T>C
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=) rs1964562143
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=) rs2150964666
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=) rs2150964607
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=) rs1388851938
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=) rs1449202929
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=)
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=) rs2150964540
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=)
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=) rs2150964438
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=) rs557855890
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=) rs2150964332
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=)
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=) rs1598241420
NM_015272.5(RPGRIP1L):c.3616+12T>G
NM_015272.5(RPGRIP1L):c.3616+14A>G
NM_015272.5(RPGRIP1L):c.3616+18G>T rs1053189955
NM_015272.5(RPGRIP1L):c.3616+9G>C
NM_015272.5(RPGRIP1L):c.3617-12C>A
NM_015272.5(RPGRIP1L):c.3617-13T>C
NM_015272.5(RPGRIP1L):c.3617-4A>G rs771975767
NM_015272.5(RPGRIP1L):c.3617-5T>C
NM_015272.5(RPGRIP1L):c.3617-6G>A
NM_015272.5(RPGRIP1L):c.3617-6G>T rs377099270
NM_015272.5(RPGRIP1L):c.3617-7G>T rs1363436397
NM_015272.5(RPGRIP1L):c.3617-9T>C
NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=) rs2150938382
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=) rs2150938143
NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
NM_015272.5(RPGRIP1L):c.3701+13A>G
NM_015272.5(RPGRIP1L):c.3701+16C>A
NM_015272.5(RPGRIP1L):c.3701+19A>G
NM_015272.5(RPGRIP1L):c.3701+20A>G
NM_015272.5(RPGRIP1L):c.3701+9T>C
NM_015272.5(RPGRIP1L):c.3702-14C>G
NM_015272.5(RPGRIP1L):c.3702-20T>G
NM_015272.5(RPGRIP1L):c.3702-4C>T
NM_015272.5(RPGRIP1L):c.3702-6T>C
NM_015272.5(RPGRIP1L):c.3702-9C>T
NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=) rs1963627514
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=) rs1963626162
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
NM_015272.5(RPGRIP1L):c.3835+12A>T
NM_015272.5(RPGRIP1L):c.3835+13G>A
NM_015272.5(RPGRIP1L):c.3835+14T>C
NM_015272.5(RPGRIP1L):c.3835+15G>A
NM_015272.5(RPGRIP1L):c.3835+18G>T
NM_015272.5(RPGRIP1L):c.3835+19C>T
NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
NM_015272.5(RPGRIP1L):c.3836-13C>G rs886038620
NM_015272.5(RPGRIP1L):c.3836-16G>A
NM_015272.5(RPGRIP1L):c.3836-18C>T
NM_015272.5(RPGRIP1L):c.3836-19C>G rs1276455735
NM_015272.5(RPGRIP1L):c.3836-19C>T
NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
NM_015272.5(RPGRIP1L):c.3836-4C>A rs1233984342
NM_015272.5(RPGRIP1L):c.3836-5C>T
NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=) rs2150909559
NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=) rs754697392
NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=) rs2150909430
NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=) rs1963406998
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=) rs2150909277
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=) rs2151352510
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=) rs748120890
NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=) rs2151351733
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=) rs2151351392
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=) rs2151351081
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=) rs2151350970
NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=) rs2151350826
NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=) rs2151350777
NM_015272.5(RPGRIP1L):c.529+13T>C
NM_015272.5(RPGRIP1L):c.529+14T>C
NM_015272.5(RPGRIP1L):c.529+15A>G
NM_015272.5(RPGRIP1L):c.529+16C>G rs765320880
NM_015272.5(RPGRIP1L):c.529+19T>G
NM_015272.5(RPGRIP1L):c.529+7C>G rs1970421028
NM_015272.5(RPGRIP1L):c.529+7C>T rs1970421028
NM_015272.5(RPGRIP1L):c.530-10T>C
NM_015272.5(RPGRIP1L):c.530-13A>G
NM_015272.5(RPGRIP1L):c.530-16A>G
NM_015272.5(RPGRIP1L):c.530-20T>C
NM_015272.5(RPGRIP1L):c.530-8G>C
NM_015272.5(RPGRIP1L):c.530-9T>C
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=) rs1970130340
NM_015272.5(RPGRIP1L):c.632+16T>C
NM_015272.5(RPGRIP1L):c.632+7G>A rs746526374
NM_015272.5(RPGRIP1L):c.632+9_632+21del rs2151325015
NM_015272.5(RPGRIP1L):c.633-14G>T
NM_015272.5(RPGRIP1L):c.633-15G>A
NM_015272.5(RPGRIP1L):c.633-19C>T rs2151318621
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=) rs760486367
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=) rs1970027900
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=) rs2151318068
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=) rs2151417590
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=)
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=) rs752815435
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=) rs2151317940
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=) rs2151317865
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=) rs2151317799
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
NM_015272.5(RPGRIP1L):c.776+17A>G
NM_015272.5(RPGRIP1L):c.776+19A>G
NM_015272.5(RPGRIP1L):c.776+8A>T
NM_015272.5(RPGRIP1L):c.777-12A>G
NM_015272.5(RPGRIP1L):c.777-17T>G
NM_015272.5(RPGRIP1L):c.777-20T>C
NM_015272.5(RPGRIP1L):c.777-6C>G
NM_015272.5(RPGRIP1L):c.777-7T>C rs1969053313
NM_015272.5(RPGRIP1L):c.777-8C>T
NM_015272.5(RPGRIP1L):c.777-9A>T rs1969053796
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=) rs201761685
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=) rs773626315
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=)
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=) rs1276297529
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=)
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=) rs2151259061
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=)
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=) rs2151258993
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=)
NM_015272.5(RPGRIP1L):c.85+12T>A
NM_015272.5(RPGRIP1L):c.85+12T>C
NM_015272.5(RPGRIP1L):c.85+17T>C
NM_015272.5(RPGRIP1L):c.86-12G>A
NM_015272.5(RPGRIP1L):c.86-12_86-8del
NM_015272.5(RPGRIP1L):c.86-18A>G
NM_015272.5(RPGRIP1L):c.86-7T>G rs2151379974
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=) rs2151258723
NM_015272.5(RPGRIP1L):c.882+10T>C rs1598379616
NM_015272.5(RPGRIP1L):c.882+17T>C
NM_015272.5(RPGRIP1L):c.882+9A>G
NM_015272.5(RPGRIP1L):c.883-14T>C
NM_015272.5(RPGRIP1L):c.883-15C>A
NM_015272.5(RPGRIP1L):c.883-15_883-14del
NM_015272.5(RPGRIP1L):c.883-16T>C
NM_015272.5(RPGRIP1L):c.883-20A>G
NM_015272.5(RPGRIP1L):c.883-3del
NM_015272.5(RPGRIP1L):c.883-6T>C
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=) rs1968869903
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=) rs1968868729
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=) rs2151245638
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=) rs1968866974
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=) rs2151245344
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=)
NM_015512.5(DNAH1):c.10008G>A (p.Glu3336=)
NM_015512.5(DNAH1):c.10011C>A (p.Ile3337=)
NM_015512.5(DNAH1):c.10052+10C>A
NM_015512.5(DNAH1):c.10052+13T>G
NM_015512.5(DNAH1):c.10053-14C>G
NM_015512.5(DNAH1):c.10053-4G>T
NM_015512.5(DNAH1):c.10083A>G (p.Val3361=)
NM_015512.5(DNAH1):c.10086G>A (p.Val3362=)
NM_015512.5(DNAH1):c.10101C>T (p.Pro3367=)
NM_015512.5(DNAH1):c.10126C>T (p.Leu3376=)
NM_015512.5(DNAH1):c.10161G>A (p.Leu3387=)
NM_015512.5(DNAH1):c.1017A>T (p.Ala339=)
NM_015512.5(DNAH1):c.10182C>T (p.Ile3394=)
NM_015512.5(DNAH1):c.10191G>T (p.Arg3397=)
NM_015512.5(DNAH1):c.10203C>T (p.Ser3401=)
NM_015512.5(DNAH1):c.10279-18C>G
NM_015512.5(DNAH1):c.10279-19C>G
NM_015512.5(DNAH1):c.1033+14C>G
NM_015512.5(DNAH1):c.1033+15C>T
NM_015512.5(DNAH1):c.1033+16G>A
NM_015512.5(DNAH1):c.1033+19G>T
NM_015512.5(DNAH1):c.1033+20C>T
NM_015512.5(DNAH1):c.1034-18C>T
NM_015512.5(DNAH1):c.10455C>T (p.Ile3485=)
NM_015512.5(DNAH1):c.10464A>T (p.Ser3488=) rs2153225630
NM_015512.5(DNAH1):c.10475-4A>G
NM_015512.5(DNAH1):c.10475-9A>G rs2153225641
NM_015512.5(DNAH1):c.10596C>A (p.Arg3532=)
NM_015512.5(DNAH1):c.10608C>T (p.Asn3536=) rs751887427
NM_015512.5(DNAH1):c.10611G>A (p.Glu3537=) rs1471423376
NM_015512.5(DNAH1):c.10626+18C>G
NM_015512.5(DNAH1):c.10627-10C>T rs1411379067
NM_015512.5(DNAH1):c.10627-13T>C
NM_015512.5(DNAH1):c.10627-15C>G
NM_015512.5(DNAH1):c.10644C>A (p.Leu3548=)
NM_015512.5(DNAH1):c.10665G>A (p.Ser3555=)
NM_015512.5(DNAH1):c.10692C>T (p.Asp3564=)
NM_015512.5(DNAH1):c.10746C>A (p.Thr3582=)
NM_015512.5(DNAH1):c.10746C>T (p.Thr3582=) rs763478584
NM_015512.5(DNAH1):c.10755C>T (p.Ser3585=)
NM_015512.5(DNAH1):c.10782C>T (p.Leu3594=)
NM_015512.5(DNAH1):c.10842C>T (p.Ile3614=)
NM_015512.5(DNAH1):c.10866C>T (p.Phe3622=)
NM_015512.5(DNAH1):c.1095T>C (p.Ala365=)
NM_015512.5(DNAH1):c.10968+10G>A
NM_015512.5(DNAH1):c.10968+19G>T
NM_015512.5(DNAH1):c.10969-20A>G
NM_015512.5(DNAH1):c.11007C>T (p.Ser3669=)
NM_015512.5(DNAH1):c.11037C>G (p.Pro3679=) rs549953056
NM_015512.5(DNAH1):c.11073C>T (p.Ala3691=)
NM_015512.5(DNAH1):c.11128-13C>T
NM_015512.5(DNAH1):c.11128-9C>T rs1559573855
NM_015512.5(DNAH1):c.11135G>A (p.Arg3712Gln)
NM_015512.5(DNAH1):c.11169G>A (p.Arg3723=) rs763418556
NM_015512.5(DNAH1):c.11253C>A (p.Pro3751=)
NM_015512.5(DNAH1):c.11253C>T (p.Pro3751=)
NM_015512.5(DNAH1):c.11259+10C>T
NM_015512.5(DNAH1):c.11259+11C>T
NM_015512.5(DNAH1):c.11259+19C>T
NM_015512.5(DNAH1):c.11260-19G>C
NM_015512.5(DNAH1):c.11331C>T (p.Asn3777=)
NM_015512.5(DNAH1):c.11364T>C (p.Gly3788=)
NM_015512.5(DNAH1):c.11380C>T (p.Leu3794=)
NM_015512.5(DNAH1):c.11418C>T (p.Asn3806=)
NM_015512.5(DNAH1):c.11424C>T (p.Cys3808=) rs1292559100
NM_015512.5(DNAH1):c.11430+14G>A
NM_015512.5(DNAH1):c.11431-10C>T
NM_015512.5(DNAH1):c.11431-14C>G
NM_015512.5(DNAH1):c.11487G>C (p.Leu3829=)
NM_015512.5(DNAH1):c.11505G>A (p.Gly3835=) rs2153225777
NM_015512.5(DNAH1):c.11526C>T (p.Pro3842=)
NM_015512.5(DNAH1):c.1155G>C (p.Thr385=)
NM_015512.5(DNAH1):c.11583G>A (p.Leu3861=)
NM_015512.5(DNAH1):c.11595T>C (p.Asp3865=)
NM_015512.5(DNAH1):c.11610+17C>A
NM_015512.5(DNAH1):c.11611-18CACC[4]
NM_015512.5(DNAH1):c.11611-4A>G
NM_015512.5(DNAH1):c.11611-6C>A
NM_015512.5(DNAH1):c.1167G>A (p.Leu389=) rs2153223261
NM_015512.5(DNAH1):c.11700C>T (p.Asp3900=)
NM_015512.5(DNAH1):c.11709C>T (p.Asn3903=) rs780516984
NM_015512.5(DNAH1):c.11715C>T (p.Asp3905=)
NM_015512.5(DNAH1):c.11742C>T (p.Ser3914=)
NM_015512.5(DNAH1):c.11754C>T (p.Ile3918=)
NM_015512.5(DNAH1):c.11781C>T (p.Asp3927=)
NM_015512.5(DNAH1):c.11787+19G>C
NM_015512.5(DNAH1):c.11787+8C>T
NM_015512.5(DNAH1):c.11788-12C>T
NM_015512.5(DNAH1):c.11788-18T>C
NM_015512.5(DNAH1):c.117G>A (p.Gly39=) rs559216813
NM_015512.5(DNAH1):c.117G>C (p.Gly39=) rs559216813
NM_015512.5(DNAH1):c.11845C>T (p.Leu3949=) rs1272054267
NM_015512.5(DNAH1):c.11880C>T (p.Asn3960=)
NM_015512.5(DNAH1):c.11913G>A (p.Gln3971=)
NM_015512.5(DNAH1):c.11925A>G (p.Lys3975=)
NM_015512.5(DNAH1):c.11958+19dup
NM_015512.5(DNAH1):c.11959-10G>T
NM_015512.5(DNAH1):c.11959-12T>C
NM_015512.5(DNAH1):c.11959-6C>G
NM_015512.5(DNAH1):c.11959-7C>T rs767603395
NM_015512.5(DNAH1):c.12030C>G (p.Ala4010=)
NM_015512.5(DNAH1):c.1203C>T (p.Asp401=)
NM_015512.5(DNAH1):c.12089+11C>T
NM_015512.5(DNAH1):c.12089+12G>A
NM_015512.5(DNAH1):c.12089+12G>T rs768259974
NM_015512.5(DNAH1):c.12089+19C>A
NM_015512.5(DNAH1):c.12089+8C>T
NM_015512.5(DNAH1):c.12090-19C>T
NM_015512.5(DNAH1):c.12124C>T (p.Leu4042=)
NM_015512.5(DNAH1):c.12201CAA[1] (p.Asn4069del) rs772396187
NM_015512.5(DNAH1):c.12249C>A (p.Leu4083=) rs751226564
NM_015512.5(DNAH1):c.12249C>T (p.Leu4083=)
NM_015512.5(DNAH1):c.12261A>G (p.Ser4087=) rs565200964
NM_015512.5(DNAH1):c.12264A>T (p.Ser4088=)
NM_015512.5(DNAH1):c.12280C>T (p.Leu4094=)
NM_015512.5(DNAH1):c.12390T>C (p.Asn4130=)
NM_015512.5(DNAH1):c.12441+18G>T
NM_015512.5(DNAH1):c.12442-13T>C
NM_015512.5(DNAH1):c.12459A>G (p.Pro4153=)
NM_015512.5(DNAH1):c.12501T>C (p.His4167=) rs372804755
NM_015512.5(DNAH1):c.1257G>A (p.Leu419=)
NM_015512.5(DNAH1):c.12642C>T (p.Tyr4214=)
NM_015512.5(DNAH1):c.12676+7_12676+8insC
NM_015512.5(DNAH1):c.12676+8G>T
NM_015512.5(DNAH1):c.12677-9_12677-3del
NM_015512.5(DNAH1):c.12702T>C (p.Ser4234=)
NM_015512.5(DNAH1):c.12705C>T (p.Thr4235=) rs1578214285
NM_015512.5(DNAH1):c.12735C>T (p.Thr4245=)
NM_015512.5(DNAH1):c.12747G>A (p.Gln4249=)
NM_015512.5(DNAH1):c.12753C>T (p.His4251=) rs759006505
NM_015512.5(DNAH1):c.12789G>C (p.Leu4263=)
NM_015512.5(DNAH1):c.1286+11G>T
NM_015512.5(DNAH1):c.1286+14C>T
NM_015512.5(DNAH1):c.1286+15G>A
NM_015512.5(DNAH1):c.1286+18C>T
NM_015512.5(DNAH1):c.1286+7C>A
NM_015512.5(DNAH1):c.1286+9C>T
NM_015512.5(DNAH1):c.1287-14A>G
NM_015512.5(DNAH1):c.1287-15C>T
NM_015512.5(DNAH1):c.1287-17C>T
NM_015512.5(DNAH1):c.1401C>T (p.Tyr467=)
NM_015512.5(DNAH1):c.1444+11C>T
NM_015512.5(DNAH1):c.1444+20G>A
NM_015512.5(DNAH1):c.1445-8C>A
NM_015512.5(DNAH1):c.150A>G (p.Gly50=) rs2153222765
NM_015512.5(DNAH1):c.1512C>T (p.Leu504=) rs1465711189
NM_015512.5(DNAH1):c.1584G>C (p.Leu528=)
NM_015512.5(DNAH1):c.1599C>T (p.Leu533=)
NM_015512.5(DNAH1):c.1608C>T (p.Tyr536=)
NM_015512.5(DNAH1):c.1647C>G (p.Thr549=)
NM_015512.5(DNAH1):c.1656+15A>G
NM_015512.5(DNAH1):c.1657-20G>A
NM_015512.5(DNAH1):c.1659G>A (p.Val553=)
NM_015512.5(DNAH1):c.1773C>T (p.Tyr591=) rs2153223792
NM_015512.5(DNAH1):c.1791C>T (p.Arg597=)
NM_015512.5(DNAH1):c.1831C>T (p.Leu611=)
NM_015512.5(DNAH1):c.1896C>T (p.Ser632=)
NM_015512.5(DNAH1):c.1902C>T (p.Leu634=)
NM_015512.5(DNAH1):c.1955+13G>A
NM_015512.5(DNAH1):c.1955+18G>A
NM_015512.5(DNAH1):c.1955+7C>T
NM_015512.5(DNAH1):c.1956-11A>G
NM_015512.5(DNAH1):c.1956-11dup
NM_015512.5(DNAH1):c.1962G>A (p.Arg654=)
NM_015512.5(DNAH1):c.201C>T (p.Ala67=)
NM_015512.5(DNAH1):c.210A>G (p.Thr70=)
NM_015512.5(DNAH1):c.2121C>T (p.Asp707=)
NM_015512.5(DNAH1):c.2154C>T (p.Ser718=)
NM_015512.5(DNAH1):c.2208C>T (p.Ala736=)
NM_015512.5(DNAH1):c.2241C>T (p.Tyr747=) rs145912972
NM_015512.5(DNAH1):c.2286T>G (p.Ile762Met)
NM_015512.5(DNAH1):c.2300+8del
NM_015512.5(DNAH1):c.2300+9G>A
NM_015512.5(DNAH1):c.2301-12T>G
NM_015512.5(DNAH1):c.2301-20C>T
NM_015512.5(DNAH1):c.2301-9T>C
NM_015512.5(DNAH1):c.2323T>C (p.Leu775=)
NM_015512.5(DNAH1):c.2388G>A (p.Ser796=)
NM_015512.5(DNAH1):c.2403C>T (p.Ile801=)
NM_015512.5(DNAH1):c.2418C>T (p.Phe806=)
NM_015512.5(DNAH1):c.2439C>T (p.Val813=)
NM_015512.5(DNAH1):c.2448C>T (p.Ser816=)
NM_015512.5(DNAH1):c.2505C>T (p.Asn835=)
NM_015512.5(DNAH1):c.2526+12C>A
NM_015512.5(DNAH1):c.2526+8C>T
NM_015512.5(DNAH1):c.2527-19C>T
NM_015512.5(DNAH1):c.2646+10G>A
NM_015512.5(DNAH1):c.2646+14_2646+21del rs1321238853
NM_015512.5(DNAH1):c.2646+15C>T
NM_015512.5(DNAH1):c.2647-12C>T
NM_015512.5(DNAH1):c.2647-14A>G rs2153223963
NM_015512.5(DNAH1):c.2706C>T (p.Leu902=) rs1265023949
NM_015512.5(DNAH1):c.2729+7G>A
NM_015512.5(DNAH1):c.2730-12C>A
NM_015512.5(DNAH1):c.2730-14C>T rs183881345
NM_015512.5(DNAH1):c.2730-7C>G rs545970781
NM_015512.5(DNAH1):c.2730-7C>T rs545970781
NM_015512.5(DNAH1):c.2784G>A (p.Gln928=)
NM_015512.5(DNAH1):c.2793T>C (p.His931=) rs774856786
NM_015512.5(DNAH1):c.2799G>A (p.Glu933=)
NM_015512.5(DNAH1):c.2872-20C>T
NM_015512.5(DNAH1):c.2872-9G>C
NM_015512.5(DNAH1):c.2874G>T (p.Leu958=)
NM_015512.5(DNAH1):c.2898T>C (p.His966=)
NM_015512.5(DNAH1):c.2955G>A (p.Gln985=) rs2153224040
NM_015512.5(DNAH1):c.2997C>A (p.Arg999=)
NM_015512.5(DNAH1):c.3002G>A (p.Arg1001His) rs200640418
NM_015512.5(DNAH1):c.3003C>T (p.Arg1001=)
NM_015512.5(DNAH1):c.3027+15G>A
NM_015512.5(DNAH1):c.3027+9C>T
NM_015512.5(DNAH1):c.3090G>T (p.Ala1030=)
NM_015512.5(DNAH1):c.309C>T (p.Ser103=)
NM_015512.5(DNAH1):c.3135C>T (p.Leu1045=) rs774105659
NM_015512.5(DNAH1):c.3226+20A>G
NM_015512.5(DNAH1):c.3227-20G>A
NM_015512.5(DNAH1):c.3227-4G>C rs758277364
NM_015512.5(DNAH1):c.3264C>T (p.Ile1088=)
NM_015512.5(DNAH1):c.3279A>G (p.Pro1093=) rs943271182
NM_015512.5(DNAH1):c.333+15C>T
NM_015512.5(DNAH1):c.3345C>T (p.Ser1115=)
NM_015512.5(DNAH1):c.3453G>A (p.Val1151=)
NM_015512.5(DNAH1):c.3480+17G>A
NM_015512.5(DNAH1):c.3481-11C>G
NM_015512.5(DNAH1):c.3481-6C>T
NM_015512.5(DNAH1):c.3481-8G>C
NM_015512.5(DNAH1):c.3510G>C (p.Ser1170=)
NM_015512.5(DNAH1):c.3543G>A (p.Ala1181=)
NM_015512.5(DNAH1):c.3570G>A (p.Pro1190=)
NM_015512.5(DNAH1):c.3579C>T (p.Ala1193=)
NM_015512.5(DNAH1):c.3603C>T (p.Ile1201=)
NM_015512.5(DNAH1):c.3681G>A (p.Leu1227=)
NM_015512.5(DNAH1):c.3693+14C>T
NM_015512.5(DNAH1):c.3693+15C>A
NM_015512.5(DNAH1):c.3693+15C>G
NM_015512.5(DNAH1):c.3693+15C>T rs138304417
NM_015512.5(DNAH1):c.3693+19C>G
NM_015512.5(DNAH1):c.3735C>G (p.Leu1245=)
NM_015512.5(DNAH1):c.3753T>C (p.Phe1251=)
NM_015512.5(DNAH1):c.3759T>C (p.Ser1253=)
NM_015512.5(DNAH1):c.3846C>T (p.Tyr1282=) rs759891550
NM_015512.5(DNAH1):c.3858+9A>C
NM_015512.5(DNAH1):c.3859-8C>T rs1208277907
NM_015512.5(DNAH1):c.3876C>T (p.Ser1292=)
NM_015512.5(DNAH1):c.3921G>C (p.Leu1307=)
NM_015512.5(DNAH1):c.3925C>T (p.Leu1309=)
NM_015512.5(DNAH1):c.3980+7G>A
NM_015512.5(DNAH1):c.4005A>G (p.Glu1335=) rs1553634511
NM_015512.5(DNAH1):c.4020G>A (p.Leu1340=)
NM_015512.5(DNAH1):c.4023G>A (p.Ser1341=) rs149752071
NM_015512.5(DNAH1):c.4023G>T (p.Ser1341=)
NM_015512.5(DNAH1):c.406+9T>C
NM_015512.5(DNAH1):c.407-19C>T
NM_015512.5(DNAH1):c.407-8A>G
NM_015512.5(DNAH1):c.4086+16C>T
NM_015512.5(DNAH1):c.4086+17G>A
NM_015512.5(DNAH1):c.4087-6T>C rs2153224258
NM_015512.5(DNAH1):c.4089_4090delinsTT (p.Leu1363_Leu1364=) rs2153224259
NM_015512.5(DNAH1):c.4092A>G (p.Leu1364=)
NM_015512.5(DNAH1):c.4101G>A (p.Glu1367=)
NM_015512.5(DNAH1):c.4158C>T (p.Phe1386=) rs1702718055
NM_015512.5(DNAH1):c.4179C>T (p.Asn1393=)
NM_015512.5(DNAH1):c.4203G>A (p.Val1401=) rs1702720965
NM_015512.5(DNAH1):c.4230C>T (p.His1410=)
NM_015512.5(DNAH1):c.4239T>C (p.Ile1413=)
NM_015512.5(DNAH1):c.4266+11C>T rs779077427
NM_015512.5(DNAH1):c.4266+12G>A
NM_015512.5(DNAH1):c.4266+8G>T
NM_015512.5(DNAH1):c.4267-12C>T
NM_015512.5(DNAH1):c.4267-15A>G
NM_015512.5(DNAH1):c.4267-5C>T
NM_015512.5(DNAH1):c.4267-8C>T
NM_015512.5(DNAH1):c.4293C>T (p.Asn1431=) rs1473566116
NM_015512.5(DNAH1):c.4314C>T (p.Ile1438=)
NM_015512.5(DNAH1):c.4320G>T (p.Gly1440=)
NM_015512.5(DNAH1):c.4398C>T (p.Leu1466=)
NM_015512.5(DNAH1):c.4408-20A>G
NM_015512.5(DNAH1):c.4408-7T>C
NM_015512.5(DNAH1):c.4431G>A (p.Val1477=)
NM_015512.5(DNAH1):c.4446C>G (p.Ser1482=)
NM_015512.5(DNAH1):c.4449C>T (p.Arg1483=)
NM_015512.5(DNAH1):c.444C>T (p.Arg148=)
NM_015512.5(DNAH1):c.4497C>T (p.Ala1499=)
NM_015512.5(DNAH1):c.4515G>A (p.Lys1505=)
NM_015512.5(DNAH1):c.4521C>A (p.Ile1507=) rs186620563
NM_015512.5(DNAH1):c.4539C>T (p.Ser1513=)
NM_015512.5(DNAH1):c.4571+11G>A
NM_015512.5(DNAH1):c.4571+16G>A
NM_015512.5(DNAH1):c.4572-6C>T
NM_015512.5(DNAH1):c.4575C>T (p.Tyr1525=) rs890356937
NM_015512.5(DNAH1):c.4596G>A (p.Leu1532=)
NM_015512.5(DNAH1):c.4638G>A (p.Glu1546=)
NM_015512.5(DNAH1):c.4644G>A (p.Leu1548=)
NM_015512.5(DNAH1):c.4650C>T (p.Asn1550=)
NM_015512.5(DNAH1):c.4671G>A (p.Thr1557=)
NM_015512.5(DNAH1):c.4674C>T (p.Pro1558=)
NM_015512.5(DNAH1):c.4686-8T>C
NM_015512.5(DNAH1):c.4698A>G (p.Thr1566=)
NM_015512.5(DNAH1):c.4701G>A (p.Leu1567=)
NM_015512.5(DNAH1):c.4770C>T (p.Thr1590=)
NM_015512.5(DNAH1):c.4874+19G>A
NM_015512.5(DNAH1):c.4899C>T (p.Asp1633=)
NM_015512.5(DNAH1):c.489G>A (p.Gln163=)
NM_015512.5(DNAH1):c.4905C>T (p.Phe1635=)
NM_015512.5(DNAH1):c.4914C>T (p.Ile1638=)
NM_015512.5(DNAH1):c.4920C>T (p.Ile1640=)
NM_015512.5(DNAH1):c.4968G>A (p.Ala1656=)
NM_015512.5(DNAH1):c.4980+9G>A
NM_015512.5(DNAH1):c.4981-20T>C
NM_015512.5(DNAH1):c.4981-7A>C rs756191237
NM_015512.5(DNAH1):c.5061C>T (p.Tyr1687=)
NM_015512.5(DNAH1):c.5082T>C (p.Pro1694=)
NM_015512.5(DNAH1):c.5094+8del
NM_015512.5(DNAH1):c.5095-12TG[2]
NM_015512.5(DNAH1):c.5095-14A>C
NM_015512.5(DNAH1):c.5095-15C>A
NM_015512.5(DNAH1):c.5095-17T>G
NM_015512.5(DNAH1):c.5097G>T (p.Ala1699=) rs974198069
NM_015512.5(DNAH1):c.5109C>T (p.Pro1703=)
NM_015512.5(DNAH1):c.513C>T (p.Tyr171=)
NM_015512.5(DNAH1):c.519C>T (p.Pro173=)
NM_015512.5(DNAH1):c.51C>T (p.Gly17=)
NM_015512.5(DNAH1):c.5232G>A (p.Gln1744=)
NM_015512.5(DNAH1):c.5244+20G>C
NM_015512.5(DNAH1):c.5244+8C>T
NM_015512.5(DNAH1):c.5245-10A>G
NM_015512.5(DNAH1):c.5245-17C>T
NM_015512.5(DNAH1):c.5245-5G>A
NM_015512.5(DNAH1):c.5262G>C (p.Gly1754=)
NM_015512.5(DNAH1):c.5271C>T (p.Ala1757=)
NM_015512.5(DNAH1):c.531G>C (p.Val177=)
NM_015512.5(DNAH1):c.5331+19G>A rs1702999755
NM_015512.5(DNAH1):c.5332-19C>T rs1703003753
NM_015512.5(DNAH1):c.5349G>T (p.Arg1783=)
NM_015512.5(DNAH1):c.5457C>T (p.Tyr1819=)
NM_015512.5(DNAH1):c.54A>G (p.Pro18=)
NM_015512.5(DNAH1):c.5519-18C>T
NM_015512.5(DNAH1):c.5519-8T>C
NM_015512.5(DNAH1):c.5611-10C>T
NM_015512.5(DNAH1):c.5611-19C>T
NM_015512.5(DNAH1):c.5658A>G (p.Pro1886=)
NM_015512.5(DNAH1):c.5721G>A (p.Thr1907=)
NM_015512.5(DNAH1):c.5733G>A (p.Leu1911=)
NM_015512.5(DNAH1):c.5765+13C>G
NM_015512.5(DNAH1):c.5766-16C>A
NM_015512.5(DNAH1):c.5766-16C>T
NM_015512.5(DNAH1):c.5766-20T>C
NM_015512.5(DNAH1):c.576C>T (p.Ile192=) rs555661049
NM_015512.5(DNAH1):c.5784C>T (p.Ser1928=)
NM_015512.5(DNAH1):c.5808C>A (p.Ile1936=)
NM_015512.5(DNAH1):c.581+14G>T
NM_015512.5(DNAH1):c.581+15G>T
NM_015512.5(DNAH1):c.5814C>T (p.Ser1938=)
NM_015512.5(DNAH1):c.5904G>A (p.Lys1968=)
NM_015512.5(DNAH1):c.5905C>T (p.Leu1969=)
NM_015512.5(DNAH1):c.5937C>T (p.Leu1979=) rs2153224633
NM_015512.5(DNAH1):c.5943+7C>T
NM_015512.5(DNAH1):c.5943+8T>C rs1703201087
NM_015512.5(DNAH1):c.5943+8del rs2153224634
NM_015512.5(DNAH1):c.5944-13G>A
NM_015512.5(DNAH1):c.5944-3del rs1193714564
NM_015512.5(DNAH1):c.5979G>A (p.Ala1993=)
NM_015512.5(DNAH1):c.5982G>A (p.Val1994=)
NM_015512.5(DNAH1):c.5997A>G (p.Thr1999=)
NM_015512.5(DNAH1):c.6018G>A (p.Val2006=)
NM_015512.5(DNAH1):c.6051C>T (p.Pro2017=)
NM_015512.5(DNAH1):c.6081T>A (p.Pro2027=) rs754783374
NM_015512.5(DNAH1):c.6120C>G (p.Leu2040=) rs1295311826
NM_015512.5(DNAH1):c.6138+10G>T
NM_015512.5(DNAH1):c.6138+14C>T
NM_015512.5(DNAH1):c.6138+16G>T
NM_015512.5(DNAH1):c.6138+18T>C
NM_015512.5(DNAH1):c.6139-4G>A
NM_015512.5(DNAH1):c.6139-6C>T
NM_015512.5(DNAH1):c.6243C>T (p.Pro2081=)
NM_015512.5(DNAH1):c.6259-5C>G
NM_015512.5(DNAH1):c.6276C>T (p.Pro2092=)
NM_015512.5(DNAH1):c.6309C>T (p.Ile2103=)
NM_015512.5(DNAH1):c.6342C>T (p.Ser2114=)
NM_015512.5(DNAH1):c.6417+12C>T
NM_015512.5(DNAH1):c.6417+15C>T
NM_015512.5(DNAH1):c.6417+9C>T rs1239356559
NM_015512.5(DNAH1):c.6445C>T (p.Leu2149=)
NM_015512.5(DNAH1):c.6453C>T (p.Phe2151=) rs1029603522
NM_015512.5(DNAH1):c.6465G>A (p.Leu2155=)
NM_015512.5(DNAH1):c.6474G>C (p.Ala2158=)
NM_015512.5(DNAH1):c.6525+14C>T
NM_015512.5(DNAH1):c.6526-10A>G
NM_015512.5(DNAH1):c.6526-12C>T
NM_015512.5(DNAH1):c.6618C>G (p.Thr2206=)
NM_015512.5(DNAH1):c.6618C>T (p.Thr2206=)
NM_015512.5(DNAH1):c.6666+13C>G
NM_015512.5(DNAH1):c.6667-10G>A
NM_015512.5(DNAH1):c.6667-10G>C
NM_015512.5(DNAH1):c.6667-11C>T
NM_015512.5(DNAH1):c.6693G>A (p.Thr2231=)
NM_015512.5(DNAH1):c.669G>A (p.Leu223=)
NM_015512.5(DNAH1):c.6708C>T (p.Thr2236=) rs760148909
NM_015512.5(DNAH1):c.6741G>A (p.Leu2247=)
NM_015512.5(DNAH1):c.6777C>T (p.Arg2259=)
NM_015512.5(DNAH1):c.678G>A (p.Gln226=) rs1553627030
NM_015512.5(DNAH1):c.6827+10C>G
NM_015512.5(DNAH1):c.6827+11C>T
NM_015512.5(DNAH1):c.6840G>A (p.Val2280=) rs1037481524
NM_015512.5(DNAH1):c.6912C>T (p.Tyr2304=)
NM_015512.5(DNAH1):c.6927C>G (p.Pro2309=)
NM_015512.5(DNAH1):c.6930C>A (p.Ile2310=) rs370197256
NM_015512.5(DNAH1):c.6969C>T (p.Tyr2323=)
NM_015512.5(DNAH1):c.6985+12C>T
NM_015512.5(DNAH1):c.7032C>T (p.Gly2344=)
NM_015512.5(DNAH1):c.7056C>T (p.Thr2352=)
NM_015512.5(DNAH1):c.7110C>T (p.Asp2370=)
NM_015512.5(DNAH1):c.7144C>T (p.Leu2382=)
NM_015512.5(DNAH1):c.7156T>C (p.Leu2386=)
NM_015512.5(DNAH1):c.7159+16G>A
NM_015512.5(DNAH1):c.7161T>C (p.Asp2387=) rs746450942
NM_015512.5(DNAH1):c.7199-14T>C
NM_015512.5(DNAH1):c.7199-19C>T
NM_015512.5(DNAH1):c.720C>G (p.Pro240=)
NM_015512.5(DNAH1):c.7272C>T (p.Thr2424=)
NM_015512.5(DNAH1):c.7299G>A (p.Lys2433=)
NM_015512.5(DNAH1):c.7374C>T (p.Val2458=)
NM_015512.5(DNAH1):c.7378-15C>G
NM_015512.5(DNAH1):c.7378-19G>A
NM_015512.5(DNAH1):c.7378-20C>T
NM_015512.5(DNAH1):c.738+19G>C
NM_015512.5(DNAH1):c.738+8G>C rs377327173
NM_015512.5(DNAH1):c.7380C>T (p.Asp2460=) rs1428527168
NM_015512.5(DNAH1):c.739-8T>G
NM_015512.5(DNAH1):c.7443G>C (p.Val2481=)
NM_015512.5(DNAH1):c.7584C>T (p.Tyr2528=)
NM_015512.5(DNAH1):c.7608+18G>A
NM_015512.5(DNAH1):c.7608+18G>T rs745933699
NM_015512.5(DNAH1):c.7608+19C>T
NM_015512.5(DNAH1):c.7608+9C>T
NM_015512.5(DNAH1):c.7609-15C>G
NM_015512.5(DNAH1):c.7609-15C>T
NM_015512.5(DNAH1):c.7609-4A>C
NM_015512.5(DNAH1):c.7617G>A (p.Gln2539=)
NM_015512.5(DNAH1):c.7666C>T (p.Leu2556=) rs1289997241
NM_015512.5(DNAH1):c.7719C>T (p.Arg2573=) rs2153225157
NM_015512.5(DNAH1):c.7750C>T (p.Leu2584=)
NM_015512.5(DNAH1):c.7755G>A (p.Leu2585=)
NM_015512.5(DNAH1):c.7767C>T (p.Gly2589=)
NM_015512.5(DNAH1):c.7805+15G>A
NM_015512.5(DNAH1):c.7805+18G>A
NM_015512.5(DNAH1):c.7805+19del
NM_015512.5(DNAH1):c.7805+7G>A
NM_015512.5(DNAH1):c.7805+9C>T rs2153225168
NM_015512.5(DNAH1):c.7806-18C>T
NM_015512.5(DNAH1):c.7809C>G (p.Ala2603=)
NM_015512.5(DNAH1):c.7815C>T (p.Tyr2605=)
NM_015512.5(DNAH1):c.7824C>T (p.Phe2608=)
NM_015512.5(DNAH1):c.7857C>G (p.Ser2619=)
NM_015512.5(DNAH1):c.7902A>C (p.Leu2634=) rs1305313888
NM_015512.5(DNAH1):c.7920C>G (p.Thr2640=)
NM_015512.5(DNAH1):c.7941+19A>G rs1703897518
NM_015512.5(DNAH1):c.7941+7C>T rs1445414596
NM_015512.5(DNAH1):c.7942-9C>T
NM_015512.5(DNAH1):c.7950C>T (p.Asn2650=)
NM_015512.5(DNAH1):c.7981C>T (p.Leu2661=)
NM_015512.5(DNAH1):c.8016G>T (p.Ala2672=) rs534846709
NM_015512.5(DNAH1):c.801G>A (p.Glu267=)
NM_015512.5(DNAH1):c.8127C>T (p.Asn2709=)
NM_015512.5(DNAH1):c.8133C>T (p.His2711=)
NM_015512.5(DNAH1):c.8150+11C>T
NM_015512.5(DNAH1):c.8208C>T (p.Cys2736=)
NM_015512.5(DNAH1):c.8238G>A (p.Pro2746=)
NM_015512.5(DNAH1):c.8253G>A (p.Lys2751=)
NM_015512.5(DNAH1):c.8322+14T>C
NM_015512.5(DNAH1):c.8323-5C>A
NM_015512.5(DNAH1):c.8334T>C (p.Cys2778=)
NM_015512.5(DNAH1):c.8409C>A (p.Thr2803=) rs1578186240
NM_015512.5(DNAH1):c.8460G>A (p.Gln2820=) rs1704033166
NM_015512.5(DNAH1):c.8502C>T (p.Ser2834=)
NM_015512.5(DNAH1):c.8515-16C>G
NM_015512.5(DNAH1):c.8577G>A (p.Leu2859=)
NM_015512.5(DNAH1):c.8625+14C>T
NM_015512.5(DNAH1):c.8625+19C>G
NM_015512.5(DNAH1):c.8625+7del rs1196963237
NM_015512.5(DNAH1):c.8626-15G>T
NM_015512.5(DNAH1):c.8626-17A>G
NM_015512.5(DNAH1):c.8626-20C>A
NM_015512.5(DNAH1):c.8634G>A (p.Thr2878=)
NM_015512.5(DNAH1):c.871+20A>G
NM_015512.5(DNAH1):c.8721C>T (p.Asp2907=)
NM_015512.5(DNAH1):c.8742C>T (p.Asp2914=)
NM_015512.5(DNAH1):c.8766G>A (p.Ala2922=)
NM_015512.5(DNAH1):c.8808C>T (p.Thr2936=)
NM_015512.5(DNAH1):c.8811+9C>T
NM_015512.5(DNAH1):c.8907A>G (p.Glu2969=)
NM_015512.5(DNAH1):c.892C>T (p.Leu298=)
NM_015512.5(DNAH1):c.897G>A (p.Lys299=) rs1476328053
NM_015512.5(DNAH1):c.9000C>T (p.Asp3000=)
NM_015512.5(DNAH1):c.9003+14G>A
NM_015512.5(DNAH1):c.9003+9G>A rs1484966451
NM_015512.5(DNAH1):c.9004-17C>T
NM_015512.5(DNAH1):c.9021G>A (p.Val3007=)
NM_015512.5(DNAH1):c.9024G>A (p.Val3008=)
NM_015512.5(DNAH1):c.9084G>A (p.Lys3028=)
NM_015512.5(DNAH1):c.9090C>T (p.Ser3030=)
NM_015512.5(DNAH1):c.9099C>T (p.Cys3033=)
NM_015512.5(DNAH1):c.909C>T (p.Cys303=)
NM_015512.5(DNAH1):c.9126C>T (p.Ala3042=)
NM_015512.5(DNAH1):c.9169C>A (p.Arg3057=)
NM_015512.5(DNAH1):c.9172-17C>T
NM_015512.5(DNAH1):c.9172-19T>C rs2153225442
NM_015512.5(DNAH1):c.9172-4dup
NM_015512.5(DNAH1):c.9172-7C>T rs2153225443
NM_015512.5(DNAH1):c.9172-9G>A
NM_015512.5(DNAH1):c.9267C>G (p.Ala3089=)
NM_015512.5(DNAH1):c.9306G>A (p.Lys3102=)
NM_015512.5(DNAH1):c.930C>T (p.Tyr310=) rs1039248425
NM_015512.5(DNAH1):c.9318G>A (p.Glu3106=)
NM_015512.5(DNAH1):c.9363+7A>G
NM_015512.5(DNAH1):c.9364-6C>T rs1553641484
NM_015512.5(DNAH1):c.9372C>T (p.Asn3124=)
NM_015512.5(DNAH1):c.9378G>A (p.Leu3126=)
NM_015512.5(DNAH1):c.9381G>A (p.Ser3127=)
NM_015512.5(DNAH1):c.9393G>A (p.Val3131=)
NM_015512.5(DNAH1):c.9447C>T (p.Gly3149=)
NM_015512.5(DNAH1):c.9459G>T (p.Val3153=)
NM_015512.5(DNAH1):c.9462C>T (p.Ala3154=)
NM_015512.5(DNAH1):c.9468C>T (p.Gly3156=)
NM_015512.5(DNAH1):c.9495+10C>T
NM_015512.5(DNAH1):c.9495+16C>A
NM_015512.5(DNAH1):c.9496-17G>C
NM_015512.5(DNAH1):c.9516C>G (p.Leu3172=)
NM_015512.5(DNAH1):c.9540C>T (p.Leu3180=)
NM_015512.5(DNAH1):c.9576G>A (p.Thr3192=)
NM_015512.5(DNAH1):c.9582C>T (p.Ile3194=)
NM_015512.5(DNAH1):c.9615G>A (p.Ser3205=)
NM_015512.5(DNAH1):c.9615G>T (p.Ser3205=)
NM_015512.5(DNAH1):c.9621+11C>T
NM_015512.5(DNAH1):c.9621+19G>A
NM_015512.5(DNAH1):c.9621+8C>T rs1704281395
NM_015512.5(DNAH1):c.9622-18G>A
NM_015512.5(DNAH1):c.9648G>T (p.Leu3216=)
NM_015512.5(DNAH1):c.9669C>T (p.Ile3223=) rs1294741438
NM_015512.5(DNAH1):c.9741+12C>A
NM_015512.5(DNAH1):c.9741+15C>T
NM_015512.5(DNAH1):c.9747G>A (p.Lys3249=) rs2153225555
NM_015512.5(DNAH1):c.986G>T (p.Arg329Leu)
NM_015512.5(DNAH1):c.9882G>A (p.Leu3294=)
NM_015512.5(DNAH1):c.9891+9G>T
NM_015512.5(DNAH1):c.9894G>A (p.Thr3298=)
NM_015512.5(DNAH1):c.9918G>A (p.Val3306=)
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=) rs747888353
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=) rs2097946417
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=) rs2139742208
NM_015631.6(TCTN3):c.1096-12del
NM_015631.6(TCTN3):c.1096-17C>G
NM_015631.6(TCTN3):c.1096-17C>T
NM_015631.6(TCTN3):c.1096-5T>G
NM_015631.6(TCTN3):c.114G>T (p.Leu38=) rs1027956965
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1203+18G>A rs1353637039
NM_015631.6(TCTN3):c.1203+20G>A
NM_015631.6(TCTN3):c.1204-14C>T
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=) rs368389310
NM_015631.6(TCTN3):c.1298+12C>T
NM_015631.6(TCTN3):c.1298+8T>C
NM_015631.6(TCTN3):c.1299-15G>A rs1589614065
NM_015631.6(TCTN3):c.1299-17A>G
NM_015631.6(TCTN3):c.1299-18C>T rs2097944406
NM_015631.6(TCTN3):c.1299-4A>G
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=) rs2139737404
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
NM_015631.6(TCTN3):c.138C>T (p.Thr46=) rs887435654
NM_015631.6(TCTN3):c.1440C>T (p.His480=) rs753883610
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) rs2139731591
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1590+14C>T
NM_015631.6(TCTN3):c.1590+15A>T rs781078051
NM_015631.6(TCTN3):c.1590+8A>G
NM_015631.6(TCTN3):c.1591-7C>G
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
NM_015631.6(TCTN3):c.159G>T (p.Ala53=) rs540555381
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) rs2097923995
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) rs2097923946
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
NM_015631.6(TCTN3):c.18C>G (p.Leu6=) rs879694012
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
NM_015631.6(TCTN3):c.256+11A>G
NM_015631.6(TCTN3):c.256+14T>C
NM_015631.6(TCTN3):c.257-13C>G
NM_015631.6(TCTN3):c.257-13C>T rs768606622
NM_015631.6(TCTN3):c.257-22_257-19del rs1426583967
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
NM_015631.6(TCTN3):c.27G>A (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.27G>T (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
NM_015631.6(TCTN3):c.380+16C>A
NM_015631.6(TCTN3):c.380+16C>T
NM_015631.6(TCTN3):c.381-13T>A
NM_015631.6(TCTN3):c.381-17C>T rs1317078515
NM_015631.6(TCTN3):c.381-18C>T
NM_015631.6(TCTN3):c.381-9T>C
NM_015631.6(TCTN3):c.435G>A (p.Pro145=) rs769335959
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
NM_015631.6(TCTN3):c.489T>C (p.His163=)
NM_015631.6(TCTN3):c.500-14A>T
NM_015631.6(TCTN3):c.500-19del
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=) rs2139750906
NM_015631.6(TCTN3):c.51C>G (p.Pro17=) rs1482900802
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
NM_015631.6(TCTN3):c.615A>G (p.Pro205=) rs1247615743
NM_015631.6(TCTN3):c.628-10T>C
NM_015631.6(TCTN3):c.628-12T>C
NM_015631.6(TCTN3):c.628-14T>C
NM_015631.6(TCTN3):c.628-4T>C rs1321301372
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
NM_015631.6(TCTN3):c.675C>T (p.Ser225=) rs2097949322
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
NM_015631.6(TCTN3):c.736+18G>A
NM_015631.6(TCTN3):c.736+19T>C
NM_015631.6(TCTN3):c.737-18del
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
NM_015631.6(TCTN3):c.847T>C (p.Leu283=) rs2139748578
NM_015631.6(TCTN3):c.852+7G>A rs1275344078
NM_015631.6(TCTN3):c.888+13T>C
NM_015631.6(TCTN3):c.888+14G>T rs2139747034
NM_015631.6(TCTN3):c.888+18C>A
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
NM_015631.6(TCTN3):c.969+17C>T rs2139744560
NM_015631.6(TCTN3):c.969+18A>C
NM_015631.6(TCTN3):c.969+19_969+37del
NM_015631.6(TCTN3):c.970-15C>A rs773472275
NM_015631.6(TCTN3):c.970-15C>G rs773472275
NM_015631.6(TCTN3):c.993T>C (p.Asn331=) rs1273105227
NM_015662.3(IFT172):c.1005+18C>T
NM_015662.3(IFT172):c.1006-14T>A
NM_015662.3(IFT172):c.1006-16C>A
NM_015662.3(IFT172):c.1006-16C>T
NM_015662.3(IFT172):c.1006-19dup rs1455103617
NM_015662.3(IFT172):c.1011T>C (p.Ile337=) rs2148544369
NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
NM_015662.3(IFT172):c.1044G>A (p.Val348=)
NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
NM_015662.3(IFT172):c.1071G>A (p.Val357=)
NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
NM_015662.3(IFT172):c.1167+17A>T
NM_015662.3(IFT172):c.1167+18G>A
NM_015662.3(IFT172):c.1167+20G>A rs2148543898
NM_015662.3(IFT172):c.1168-12C>T
NM_015662.3(IFT172):c.1168-15C>T rs1668059914
NM_015662.3(IFT172):c.1168-16T>C
NM_015662.3(IFT172):c.1168-17G>A
NM_015662.3(IFT172):c.1168-8C>T
NM_015662.3(IFT172):c.117G>A (p.Val39=)
NM_015662.3(IFT172):c.1197G>A (p.Glu399=) rs2148543008
NM_015662.3(IFT172):c.1222-15C>T
NM_015662.3(IFT172):c.1222-9T>G
NM_015662.3(IFT172):c.1227C>T (p.Cys409=) rs973370518
NM_015662.3(IFT172):c.1254C>G (p.Thr418=) rs1468553045
NM_015662.3(IFT172):c.126G>A (p.Leu42=) rs2148559862
NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
NM_015662.3(IFT172):c.1325+14A>T
NM_015662.3(IFT172):c.1326-10C>A
NM_015662.3(IFT172):c.1326-8T>C
NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
NM_015662.3(IFT172):c.1380T>G (p.Ala460=) rs1465089677
NM_015662.3(IFT172):c.1383T>C (p.Tyr461=) rs201572769
NM_015662.3(IFT172):c.1411+7A>G
NM_015662.3(IFT172):c.1411+8A>C
NM_015662.3(IFT172):c.1412-14C>T
NM_015662.3(IFT172):c.1412-16C>T
NM_015662.3(IFT172):c.1412-20C>G rs1487705973
NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
NM_015662.3(IFT172):c.1443C>G (p.Thr481=) rs780600337
NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
NM_015662.3(IFT172):c.1488T>C (p.Thr496=) rs1369233091
NM_015662.3(IFT172):c.1503C>T (p.Leu501=) rs1667628081
NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
NM_015662.3(IFT172):c.1524+10G>A
NM_015662.3(IFT172):c.1524+11C>A rs2148531337
NM_015662.3(IFT172):c.1524+19G>T rs1667624184
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1590G>A (p.Gln530=) rs770918577
NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
NM_015662.3(IFT172):c.1674C>G (p.Val558=) rs1455569315
NM_015662.3(IFT172):c.1692+12A>T
NM_015662.3(IFT172):c.1692+18G>A
NM_015662.3(IFT172):c.1692+9G>A
NM_015662.3(IFT172):c.1693-7T>A
NM_015662.3(IFT172):c.1693-8T>A rs1192375297
NM_015662.3(IFT172):c.1693-9C>A
NM_015662.3(IFT172):c.1710G>A (p.Leu570=) rs2148516446
NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
NM_015662.3(IFT172):c.1731C>T (p.Thr577=) rs369849820
NM_015662.3(IFT172):c.1743G>A (p.Val581=)
NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
NM_015662.3(IFT172):c.177C>T (p.Asp59=)
NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
NM_015662.3(IFT172):c.1829+7G>A
NM_015662.3(IFT172):c.183+13T>C
NM_015662.3(IFT172):c.1830-13C>T rs1667020853
NM_015662.3(IFT172):c.1830-6T>G rs758128239
NM_015662.3(IFT172):c.1830-8C>T
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.184-8del
NM_015662.3(IFT172):c.18G>A (p.Leu6=)
NM_015662.3(IFT172):c.1905A>G (p.Ala635=) rs2148515325
NM_015662.3(IFT172):c.1926C>T (p.His642=)
NM_015662.3(IFT172):c.1938-15G>A
NM_015662.3(IFT172):c.1938-17T>C
NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
NM_015662.3(IFT172):c.2023-20A>G
NM_015662.3(IFT172):c.2023-5C>G
NM_015662.3(IFT172):c.2023-9_2023-8insAA
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
NM_015662.3(IFT172):c.2115+12A>G
NM_015662.3(IFT172):c.2116-11G>C
NM_015662.3(IFT172):c.2116-11G>T
NM_015662.3(IFT172):c.2116-5C>G
NM_015662.3(IFT172):c.2116-5C>T rs754154643
NM_015662.3(IFT172):c.2116-7C>T
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
NM_015662.3(IFT172):c.2178T>C (p.Ala726=) rs2148507415
NM_015662.3(IFT172):c.2190C>T (p.Ala730=) rs781352681
NM_015662.3(IFT172):c.2193+13T>C rs947674391
NM_015662.3(IFT172):c.2193+14C>A rs1666690784
NM_015662.3(IFT172):c.2193+16T>C
NM_015662.3(IFT172):c.2193+16_2193+18del rs1215056367
NM_015662.3(IFT172):c.2193+18T>C
NM_015662.3(IFT172):c.2194-10G>T rs1666669350
NM_015662.3(IFT172):c.2194-15T>G rs1666669871
NM_015662.3(IFT172):c.2194-6G>T
NM_015662.3(IFT172):c.2194-8A>G
NM_015662.3(IFT172):c.2194-9C>A
NM_015662.3(IFT172):c.2199C>T (p.His733=) rs146482086
NM_015662.3(IFT172):c.219T>A (p.Ala73=) rs2148559300
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
NM_015662.3(IFT172):c.2277A>G (p.Leu759=) rs2148506541
NM_015662.3(IFT172):c.2299C>T (p.Leu767=) rs1666656398
NM_015662.3(IFT172):c.2403C>T (p.His801=)
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
NM_015662.3(IFT172):c.2442+14C>T
NM_015662.3(IFT172):c.2442+9G>C rs771351250
NM_015662.3(IFT172):c.2443-14G>T rs1261651716
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
NM_015662.3(IFT172):c.2487G>A (p.Leu829=) rs2148505508
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=) rs377514145
NM_015662.3(IFT172):c.2521+15T>A
NM_015662.3(IFT172):c.2522-11C>T
NM_015662.3(IFT172):c.2522-15T>C rs2148502867
NM_015662.3(IFT172):c.2532G>T (p.Leu844=) rs1446552642
NM_015662.3(IFT172):c.2544C>G (p.Ala848=)
NM_015662.3(IFT172):c.2568A>G (p.Leu856=)
NM_015662.3(IFT172):c.2571G>A (p.Glu857=)
NM_015662.3(IFT172):c.2592G>A (p.Leu864=)
NM_015662.3(IFT172):c.2604G>A (p.Lys868=)
NM_015662.3(IFT172):c.2642+11A>T
NM_015662.3(IFT172):c.2642+12T>C
NM_015662.3(IFT172):c.2642+12T>G rs775954601
NM_015662.3(IFT172):c.2642+18T>C
NM_015662.3(IFT172):c.2643-15T>C
NM_015662.3(IFT172):c.2643-18C>G
NM_015662.3(IFT172):c.2643-4C>T
NM_015662.3(IFT172):c.2661T>C (p.Ile887=)
NM_015662.3(IFT172):c.2685G>A (p.Gln895=)
NM_015662.3(IFT172):c.2691G>A (p.Lys897=)
NM_015662.3(IFT172):c.2715A>G (p.Leu905=) rs985482566
NM_015662.3(IFT172):c.2757C>G (p.Ala919=)
NM_015662.3(IFT172):c.2765A>G (p.Tyr922Cys) rs767901253
NM_015662.3(IFT172):c.2772C>T (p.Ser924=)
NM_015662.3(IFT172):c.2788-11A>G
NM_015662.3(IFT172):c.2788-12C>T
NM_015662.3(IFT172):c.2788-20C>T
NM_015662.3(IFT172):c.2811G>A (p.Lys937=) rs1666401548
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
NM_015662.3(IFT172):c.2877+10G>A rs2148500039
NM_015662.3(IFT172):c.2877+8T>C
NM_015662.3(IFT172):c.2878-19T>C
NM_015662.3(IFT172):c.2878-4A>G
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
NM_015662.3(IFT172):c.291A>G (p.Glu97=) rs189236939
NM_015662.3(IFT172):c.297-15del
NM_015662.3(IFT172):c.2976-16G>A
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=) rs1572750803
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
NM_015662.3(IFT172):c.3111+20C>T
NM_015662.3(IFT172):c.3111+7C>T
NM_015662.3(IFT172):c.3112-15C>T
NM_015662.3(IFT172):c.3112-20C>T
NM_015662.3(IFT172):c.3112-7C>T
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
NM_015662.3(IFT172):c.312C>T (p.Val104=)
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=) rs1666265665
NM_015662.3(IFT172):c.3228+20C>G
NM_015662.3(IFT172):c.3229-9G>T
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
NM_015662.3(IFT172):c.3312T>A (p.Val1104=) rs2148494491
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
NM_015662.3(IFT172):c.336+17T>G rs980703626
NM_015662.3(IFT172):c.3371+12A>G
NM_015662.3(IFT172):c.3371+20C>T
NM_015662.3(IFT172):c.3372-20A>G
NM_015662.3(IFT172):c.3372-9C>T rs755327956
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=) rs2148490003
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=) rs2148489948
NM_015662.3(IFT172):c.3465+11G>T
NM_015662.3(IFT172):c.3465+8T>C
NM_015662.3(IFT172):c.3466-13TC[2] rs773373497
NM_015662.3(IFT172):c.3466-17C>T rs2148489457
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
NM_015662.3(IFT172):c.3530+17A>G
NM_015662.3(IFT172):c.3530+18T>C rs2148489134
NM_015662.3(IFT172):c.3530+20C>A
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
NM_015662.3(IFT172):c.3711+8A>T
NM_015662.3(IFT172):c.3712-17C>A rs760418910
NM_015662.3(IFT172):c.3712-18A>G
NM_015662.3(IFT172):c.3712-6G>C rs1665914988
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=) rs1665912193
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=) rs1012597627
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
NM_015662.3(IFT172):c.3821+11A>T
NM_015662.3(IFT172):c.3822-12_3822-11del rs2148486525
NM_015662.3(IFT172):c.3822-13C>G rs765929814
NM_015662.3(IFT172):c.3822-15C>T
NM_015662.3(IFT172):c.3822-5C>T
NM_015662.3(IFT172):c.3822-8C>T
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
NM_015662.3(IFT172):c.3951+11C>G
NM_015662.3(IFT172):c.3951+11C>T
NM_015662.3(IFT172):c.3951+17C>T
NM_015662.3(IFT172):c.3951+18T>A
NM_015662.3(IFT172):c.3951+8C>T
NM_015662.3(IFT172):c.3952-14G>A rs763108930
NM_015662.3(IFT172):c.3952-6A>C rs908057940
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
NM_015662.3(IFT172):c.402+8A>G
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
NM_015662.3(IFT172):c.4050+9del
NM_015662.3(IFT172):c.4051-13T>A
NM_015662.3(IFT172):c.4051-13del rs756768673
NM_015662.3(IFT172):c.4051-8C>T rs1183759904
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
NM_015662.3(IFT172):c.414A>C (p.Ala138=) rs1668544883
NM_015662.3(IFT172):c.4160+19_4160+21del rs760484345
NM_015662.3(IFT172):c.4161-10A>G
NM_015662.3(IFT172):c.4161-18C>G rs1558357557
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=) rs1572722884
NM_015662.3(IFT172):c.4176G>C (p.Val1392=) rs1243938107
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
NM_015662.3(IFT172):c.4224+8T>C
NM_015662.3(IFT172):c.4225-17G>A
NM_015662.3(IFT172):c.4225-17G>C
NM_015662.3(IFT172):c.4225-19C>G
NM_015662.3(IFT172):c.4225-19_4225-18del
NM_015662.3(IFT172):c.4225-9T>C
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=) rs748345321
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
NM_015662.3(IFT172):c.4312-4dup
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
NM_015662.3(IFT172):c.4428+15C>T
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=) rs774451726
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=) rs1244568496
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
NM_015662.3(IFT172):c.4540-15G>A
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
NM_015662.3(IFT172):c.4617T>C (p.His1539=) rs1266021624
NM_015662.3(IFT172):c.4659+16T>A rs143060452
NM_015662.3(IFT172):c.4660-5C>T
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=) rs1160368460
NM_015662.3(IFT172):c.4755+20G>C
NM_015662.3(IFT172):c.4755+9G>A rs375261962
NM_015662.3(IFT172):c.4756-13T>C
NM_015662.3(IFT172):c.4756-15T>A
NM_015662.3(IFT172):c.4756-17A>C
NM_015662.3(IFT172):c.4756-17A>T rs753517897
NM_015662.3(IFT172):c.4756-20G>C
NM_015662.3(IFT172):c.4756-20G>T
NM_015662.3(IFT172):c.4756-5T>C
NM_015662.3(IFT172):c.4756-6C>G
NM_015662.3(IFT172):c.4756-9T>G
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4815+10G>A rs759461544
NM_015662.3(IFT172):c.4815+10del
NM_015662.3(IFT172):c.4815+12A>G rs774356097
NM_015662.3(IFT172):c.4815+16G>C rs1296172696
NM_015662.3(IFT172):c.4815+20C>G
NM_015662.3(IFT172):c.4816-5T>C
NM_015662.3(IFT172):c.4816-9_4816-8del rs777369595
NM_015662.3(IFT172):c.482+10G>C
NM_015662.3(IFT172):c.482+16T>G
NM_015662.3(IFT172):c.482+9A>G
NM_015662.3(IFT172):c.483-19C>T
NM_015662.3(IFT172):c.483-4T>C rs1668525396
NM_015662.3(IFT172):c.483-7T>C
NM_015662.3(IFT172):c.483-9C>T
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
NM_015662.3(IFT172):c.4914+13G>T rs867633277
NM_015662.3(IFT172):c.4914+20A>G
NM_015662.3(IFT172):c.4914+7G>A
NM_015662.3(IFT172):c.4915-16T>A
NM_015662.3(IFT172):c.4915-5T>C
NM_015662.3(IFT172):c.4915-5T>G
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=) rs1238278691
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=) rs1285975087
NM_015662.3(IFT172):c.5068+14C>T
NM_015662.3(IFT172):c.5069-20C>A
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=) rs2148464737
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
NM_015662.3(IFT172):c.5160+12_5160+14del
NM_015662.3(IFT172):c.5160+13G>A rs1185416215
NM_015662.3(IFT172):c.5160+14A>G
NM_015662.3(IFT172):c.5160+15C>T
NM_015662.3(IFT172):c.5160+16T>G
NM_015662.3(IFT172):c.5161-5C>G
NM_015662.3(IFT172):c.5161-5C>T
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
NM_015662.3(IFT172):c.555C>G (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.555C>T (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.570+14A>C
NM_015662.3(IFT172):c.570+19G>C rs761066634
NM_015662.3(IFT172):c.571-12C>T rs2148550539
NM_015662.3(IFT172):c.571-17C>T
NM_015662.3(IFT172):c.571-18C>T
NM_015662.3(IFT172):c.571-7G>C
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
NM_015662.3(IFT172):c.738T>C (p.Ala246=) rs1365791183
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
NM_015662.3(IFT172):c.785+16A>G
NM_015662.3(IFT172):c.786-18C>G rs773491435
NM_015662.3(IFT172):c.786-18C>T
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
NM_015662.3(IFT172):c.834A>G (p.Ala278=) rs1221821042
NM_015662.3(IFT172):c.843G>A (p.Lys281=) rs1668252791
NM_015662.3(IFT172):c.894C>T (p.Gly298=) rs2148547913
NM_015662.3(IFT172):c.909+17C>A rs376213191
NM_015662.3(IFT172):c.909+17C>G
NM_015662.3(IFT172):c.910-20G>A
NM_015662.3(IFT172):c.910-8C>T
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
NM_015662.3(IFT172):c.984G>A (p.Leu328=)
NM_015681.6(B9D1):c.105G>A (p.Val35=)
NM_015681.6(B9D1):c.132+11C>T rs2152276135
NM_015681.6(B9D1):c.132+14T>C
NM_015681.6(B9D1):c.162A>C (p.Thr54=)
NM_015681.6(B9D1):c.165C>T (p.Ser55=) rs368753881
NM_015681.6(B9D1):c.189A>G (p.Ala63=)
NM_015681.6(B9D1):c.204C>T (p.Phe68=) rs1006221533
NM_015681.6(B9D1):c.216C>G (p.Val72=)
NM_015681.6(B9D1):c.240C>T (p.Tyr80=)
NM_015681.6(B9D1):c.244+10dup rs1340872247
NM_015681.6(B9D1):c.244+17C>T
NM_015681.6(B9D1):c.244+19T>G
NM_015681.6(B9D1):c.245-12del
NM_015681.6(B9D1):c.245-20C>T
NM_015681.6(B9D1):c.245-9C>T
NM_015681.6(B9D1):c.255C>T (p.Ile85=)
NM_015681.6(B9D1):c.261C>G (p.Leu87=)
NM_015681.6(B9D1):c.261C>T (p.Leu87=)
NM_015681.6(B9D1):c.264C>T (p.Ser88=)
NM_015681.6(B9D1):c.276A>C (p.Pro92=)
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
NM_015681.6(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.6(B9D1):c.30A>C (p.Leu10=) rs781395275
NM_015681.6(B9D1):c.312G>A (p.Gly104=) rs2152261896
NM_015681.6(B9D1):c.333A>T (p.Ser111=)
NM_015681.6(B9D1):c.341+15T>C
NM_015681.6(B9D1):c.341+19C>T
NM_015681.6(B9D1):c.342-9T>C
NM_015681.6(B9D1):c.404+10G>A
NM_015681.6(B9D1):c.404+11T>C
NM_015681.6(B9D1):c.405-13_405-11del rs748543760
NM_015681.6(B9D1):c.405-19T>C
NM_015681.6(B9D1):c.405-9T>C
NM_015681.6(B9D1):c.426C>T (p.Pro142=)
NM_015681.6(B9D1):c.465C>A (p.Gly155=) rs748971385
NM_015681.6(B9D1):c.472+13C>G rs2152253339
NM_015681.6(B9D1):c.472+15C>G
NM_015681.6(B9D1):c.472+16C>T rs375227607
NM_015681.6(B9D1):c.473-12T>C rs1330715883
NM_015681.6(B9D1):c.473-13del
NM_015681.6(B9D1):c.473-15C>G
NM_015681.6(B9D1):c.480T>G (p.Arg160=)
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
NM_015681.6(B9D1):c.579G>C (p.Val193=)
NM_015681.6(B9D1):c.63+11G>A rs2152278747
NM_015681.6(B9D1):c.63+16C>T
NM_015681.6(B9D1):c.63+20G>A rs765907063
NM_015681.6(B9D1):c.63+20_63+43del rs2152278609
NM_015681.6(B9D1):c.64-12_64-11del
NM_015681.6(B9D1):c.64-15_64-12del
NM_015681.6(B9D1):c.64-19_64-18del rs2152276295
NM_015681.6(B9D1):c.64-5T>C rs1910896502
NM_015681.6(B9D1):c.64-6T>C
NM_015681.6(B9D1):c.96C>T (p.Tyr32=) rs2152276201
NM_015681.6(B9D1):c.9C>G (p.Thr3=) rs749611797
NM_015693.4(INTU):c.1450-9T>G rs73847044
NM_015693.4(INTU):c.683-16G>C rs56223823
NM_015896.4(ZMYND10):c.1053A>G (p.Ala351=)
NM_015896.4(ZMYND10):c.1089C>G (p.Pro363=)
NM_015896.4(ZMYND10):c.1104G>A (p.Leu368=)
NM_015896.4(ZMYND10):c.1107G>T (p.Arg369=) rs1703388579
NM_015896.4(ZMYND10):c.1115C>T (p.Ala372Val)
NM_015896.4(ZMYND10):c.1116G>T (p.Ala372=) rs143000634
NM_015896.4(ZMYND10):c.1121+10G>A
NM_015896.4(ZMYND10):c.1122-16C>T
NM_015896.4(ZMYND10):c.1122-18T>C
NM_015896.4(ZMYND10):c.1122-6C>T
NM_015896.4(ZMYND10):c.1137C>T (p.Tyr379=)
NM_015896.4(ZMYND10):c.1155G>A (p.Glu385=)
NM_015896.4(ZMYND10):c.1197A>G (p.Ala399=) rs1703379284
NM_015896.4(ZMYND10):c.1247+18C>A
NM_015896.4(ZMYND10):c.168G>A (p.Glu56=)
NM_015896.4(ZMYND10):c.201+9A>T
NM_015896.4(ZMYND10):c.202-11A>C
NM_015896.4(ZMYND10):c.202-11A>G
NM_015896.4(ZMYND10):c.246G>A (p.Lys82=)
NM_015896.4(ZMYND10):c.294G>A (p.Gln98=)
NM_015896.4(ZMYND10):c.297C>T (p.Asn99=)
NM_015896.4(ZMYND10):c.312C>T (p.Tyr104=)
NM_015896.4(ZMYND10):c.372+20C>T
NM_015896.4(ZMYND10):c.372+9C>T
NM_015896.4(ZMYND10):c.373-14C>T
NM_015896.4(ZMYND10):c.373-17CCT[2]
NM_015896.4(ZMYND10):c.43C>T (p.Leu15=)
NM_015896.4(ZMYND10):c.477G>A (p.Glu159=)
NM_015896.4(ZMYND10):c.495C>T (p.Asp165=)
NM_015896.4(ZMYND10):c.564C>T (p.Leu188=) rs144295551
NM_015896.4(ZMYND10):c.599+11C>T
NM_015896.4(ZMYND10):c.599+19C>T
NM_015896.4(ZMYND10):c.600-15C>T
NM_015896.4(ZMYND10):c.600-22_600-12del
NM_015896.4(ZMYND10):c.621C>T (p.Ser207=) rs777911817
NM_015896.4(ZMYND10):c.624T>A (p.Arg208=) rs2109357591
NM_015896.4(ZMYND10):c.633C>T (p.Ser211=)
NM_015896.4(ZMYND10):c.700+14C>G
NM_015896.4(ZMYND10):c.700+15C>A rs191853356
NM_015896.4(ZMYND10):c.700+15C>G
NM_015896.4(ZMYND10):c.701-18G>A
NM_015896.4(ZMYND10):c.777C>T (p.Asp259=)
NM_015896.4(ZMYND10):c.813A>G (p.Leu271=)
NM_015896.4(ZMYND10):c.873+14C>T
NM_015896.4(ZMYND10):c.873+18C>G
NM_015896.4(ZMYND10):c.873+20A>C
NM_015896.4(ZMYND10):c.92+11C>T
NM_015896.4(ZMYND10):c.92+15T>A
NM_015896.4(ZMYND10):c.93-11C>T
NM_015896.4(ZMYND10):c.942G>C (p.Leu314=)
NM_015896.4(ZMYND10):c.954C>A (p.Thr318=)
NM_015896.4(ZMYND10):c.984C>T (p.Asp328=)
NM_015910.7(WDPCP):c.1038T>C (p.Asn346=)
NM_015910.7(WDPCP):c.1044T>C (p.Thr348=)
NM_015910.7(WDPCP):c.1068T>C (p.Cys356=) rs2105190318
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=) rs376164426
NM_015910.7(WDPCP):c.1116C>T (p.Leu372=) rs1197964654
NM_015910.7(WDPCP):c.1197G>A (p.Gly399=)
NM_015910.7(WDPCP):c.1203G>A (p.Leu401=)
NM_015910.7(WDPCP):c.1227C>A (p.Ser409=)
NM_015910.7(WDPCP):c.1227C>T (p.Ser409=) rs1358121754
NM_015910.7(WDPCP):c.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1245G>C (p.Leu415=)
NM_015910.7(WDPCP):c.1377T>C (p.Tyr459=)
NM_015910.7(WDPCP):c.1383C>T (p.Leu461=) rs1480092104
NM_015910.7(WDPCP):c.1435+12A>G rs752729656
NM_015910.7(WDPCP):c.1435+18A>T
NM_015910.7(WDPCP):c.1436-14A>G
NM_015910.7(WDPCP):c.1436-5G>A rs1692362842
NM_015910.7(WDPCP):c.1437C>T (p.Gly479=)
NM_015910.7(WDPCP):c.144T>C (p.Asn48=)
NM_015910.7(WDPCP):c.1452A>C (p.Gly484=)
NM_015910.7(WDPCP):c.1456C>T (p.Leu486=)
NM_015910.7(WDPCP):c.1470C>T (p.Asp490=) rs745681296
NM_015910.7(WDPCP):c.1488T>C (p.Ile496=) rs2104901376
NM_015910.7(WDPCP):c.1518C>T (p.Asn506=)
NM_015910.7(WDPCP):c.1566C>T (p.Ile522=)
NM_015910.7(WDPCP):c.1578C>T (p.Ala526=) rs1692345418
NM_015910.7(WDPCP):c.160+20A>T rs2105950775
NM_015910.7(WDPCP):c.1608C>T (p.Leu536=)
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.1650C>T (p.Thr550=) rs2104859059
NM_015910.7(WDPCP):c.1690T>C (p.Leu564=)
NM_015910.7(WDPCP):c.1731C>T (p.Phe577=) rs778132438
NM_015910.7(WDPCP):c.1748+17G>A rs2104857132
NM_015910.7(WDPCP):c.1748+18A>G rs2104857099
NM_015910.7(WDPCP):c.1749-19A>G
NM_015910.7(WDPCP):c.1749-21_1749-19del rs1374121530
NM_015910.7(WDPCP):c.1749-5T>G
NM_015910.7(WDPCP):c.1758G>A (p.Arg586=) rs1317461178
NM_015910.7(WDPCP):c.1812+19T>G
NM_015910.7(WDPCP):c.1812+20G>A
NM_015910.7(WDPCP):c.1813-11T>C rs2104772785
NM_015910.7(WDPCP):c.1813-5C>G rs1681422817
NM_015910.7(WDPCP):c.1813-5C>T
NM_015910.7(WDPCP):c.1827T>A (p.Leu609=)
NM_015910.7(WDPCP):c.1846T>C (p.Leu616=)
NM_015910.7(WDPCP):c.1916-21_1916-20del rs1672121339
NM_015910.7(WDPCP):c.1968C>G (p.Gly656=) rs746538391
NM_015910.7(WDPCP):c.1971G>C (p.Leu657=)
NM_015910.7(WDPCP):c.2031C>A (p.Thr677=)
NM_015910.7(WDPCP):c.2078+18G>A
NM_015910.7(WDPCP):c.2078+8A>G
NM_015910.7(WDPCP):c.2079-8T>C rs201051851
NM_015910.7(WDPCP):c.2106T>G (p.Leu702=)
NM_015910.7(WDPCP):c.2158+14A>C
NM_015910.7(WDPCP):c.2159-20G>T
NM_015910.7(WDPCP):c.216G>A (p.Glu72=)
NM_015910.7(WDPCP):c.2190+15C>A
NM_015910.7(WDPCP):c.2211T>C (p.Ser737=) rs1369325564
NM_015910.7(WDPCP):c.2235G>A (p.Leu745=)
NM_015910.7(WDPCP):c.24C>T (p.Asp8=) rs548483405
NM_015910.7(WDPCP):c.252G>A (p.Glu84=) rs201399904
NM_015910.7(WDPCP):c.253+17T>C
NM_015910.7(WDPCP):c.253+19T>G
NM_015910.7(WDPCP):c.254-14G>A
NM_015910.7(WDPCP):c.254-20G>C rs2105907834
NM_015910.7(WDPCP):c.27C>G (p.Ala9=)
NM_015910.7(WDPCP):c.288C>T (p.Arg96=) rs2105907324
NM_015910.7(WDPCP):c.324+15_324+24del
NM_015910.7(WDPCP):c.325-20C>G
NM_015910.7(WDPCP):c.325-26CT[3]
NM_015910.7(WDPCP):c.325-5T>C
NM_015910.7(WDPCP):c.375T>C (p.Tyr125=) rs1303422628
NM_015910.7(WDPCP):c.384+19C>T
NM_015910.7(WDPCP):c.385-11C>T
NM_015910.7(WDPCP):c.385-16A>G
NM_015910.7(WDPCP):c.385-17C>A rs183208705
NM_015910.7(WDPCP):c.385-17C>G rs183208705
NM_015910.7(WDPCP):c.385-17C>T rs183208705
NM_015910.7(WDPCP):c.385-18C>T
NM_015910.7(WDPCP):c.42C>T (p.Ala14=)
NM_015910.7(WDPCP):c.432G>A (p.Pro144=) rs375615054
NM_015910.7(WDPCP):c.45G>T (p.Gly15=) rs1003414023
NM_015910.7(WDPCP):c.477C>T (p.Leu159=) rs774300078
NM_015910.7(WDPCP):c.489C>G (p.Thr163=) rs1357358501
NM_015910.7(WDPCP):c.489C>T (p.Thr163=)
NM_015910.7(WDPCP):c.500-17_500-13del
NM_015910.7(WDPCP):c.531A>G (p.Ser177=) rs2105501110
NM_015910.7(WDPCP):c.597C>T (p.Asn199=)
NM_015910.7(WDPCP):c.60C>T (p.Ser20=)
NM_015910.7(WDPCP):c.633+16T>C
NM_015910.7(WDPCP):c.633+17A>T rs373456348
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val) rs571641878
NM_015910.7(WDPCP):c.66C>A (p.Leu22=)
NM_015910.7(WDPCP):c.66C>T (p.Leu22=) rs2106583409
NM_015910.7(WDPCP):c.678G>A (p.Glu226=)
NM_015910.7(WDPCP):c.690T>A (p.Ala230=)
NM_015910.7(WDPCP):c.6G>A (p.Arg2=)
NM_015910.7(WDPCP):c.75+11G>A
NM_015910.7(WDPCP):c.75+15G>A
NM_015910.7(WDPCP):c.75+7C>A
NM_015910.7(WDPCP):c.76-19T>A
NM_015910.7(WDPCP):c.792A>C (p.Leu264=) rs1404820814
NM_015910.7(WDPCP):c.792A>G (p.Leu264=)
NM_015910.7(WDPCP):c.798C>G (p.Leu266=) rs746884820
NM_015910.7(WDPCP):c.798C>T (p.Leu266=)
NM_015910.7(WDPCP):c.826-14A>G
NM_015910.7(WDPCP):c.826-16A>G
NM_015910.7(WDPCP):c.826-20C>G
NM_015910.7(WDPCP):c.826-20C>T
NM_015910.7(WDPCP):c.826-5A>T rs1694429108
NM_015910.7(WDPCP):c.831G>C (p.Leu277=) rs863224423
NM_015910.7(WDPCP):c.846A>G (p.Thr282=) rs2105194260
NM_015910.7(WDPCP):c.921T>C (p.Ser307=) rs1694416849
NM_015910.7(WDPCP):c.924A>C (p.Val308=)
NM_015910.7(WDPCP):c.945C>T (p.Asp315=)
NM_015910.7(WDPCP):c.9A>C (p.Arg3=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_016616.5(NME8):c.1005G>A (p.Leu335=)
NM_016616.5(NME8):c.1059A>G (p.Leu353=) rs2131967257
NM_016616.5(NME8):c.1062G>A (p.Ser354=)
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)
NM_016616.5(NME8):c.1173C>T (p.Asp391=)
NM_016616.5(NME8):c.1188C>T (p.Tyr396=)
NM_016616.5(NME8):c.1247+15A>G
NM_016616.5(NME8):c.1291T>C (p.Leu431=)
NM_016616.5(NME8):c.138A>G (p.Gln46=)
NM_016616.5(NME8):c.1473G>A (p.Glu491=)
NM_016616.5(NME8):c.1515T>C (p.Phe505=)
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) rs142525551
NM_016616.5(NME8):c.1611C>A (p.Gly537=)
NM_016616.5(NME8):c.1644C>G (p.Ser548=)
NM_016616.5(NME8):c.1689C>T (p.Asn563=)
NM_016616.5(NME8):c.1737T>C (p.Asn579=)
NM_016616.5(NME8):c.1743C>A (p.Leu581=)
NM_016616.5(NME8):c.1743C>T (p.Leu581=) rs764326102
NM_016616.5(NME8):c.240T>C (p.Asp80=)
NM_016616.5(NME8):c.24C>G (p.Val8=)
NM_016616.5(NME8):c.258T>C (p.Phe86=)
NM_016616.5(NME8):c.267T>C (p.Ser89=)
NM_016616.5(NME8):c.271-15T>G
NM_016616.5(NME8):c.315T>G (p.Leu105=) rs2131947110
NM_016616.5(NME8):c.33+8T>G rs1554360728
NM_016616.5(NME8):c.330T>G (p.Val110=)
NM_016616.5(NME8):c.34-8C>T rs2131937494
NM_016616.5(NME8):c.342C>T (p.Ile114=)
NM_016616.5(NME8):c.36A>G (p.Thr12=)
NM_016616.5(NME8):c.416A>T (p.Asp139Val)
NM_016616.5(NME8):c.454+14_454+15insGAA
NM_016616.5(NME8):c.454+15T>C
NM_016616.5(NME8):c.454+16T>C
NM_016616.5(NME8):c.454+17C>T
NM_016616.5(NME8):c.459A>G (p.Glu153=)
NM_016616.5(NME8):c.513A>G (p.Leu171=)
NM_016616.5(NME8):c.528+19C>T
NM_016616.5(NME8):c.529-15A>G
NM_016616.5(NME8):c.549T>C (p.Ile183=) rs1464952855
NM_016616.5(NME8):c.574C>T (p.Leu192Phe)
NM_016616.5(NME8):c.621+11T>G
NM_016616.5(NME8):c.654A>G (p.Thr218=) rs1583632294
NM_016616.5(NME8):c.720C>T (p.Thr240=)
NM_016616.5(NME8):c.726A>G (p.Pro242=)
NM_016616.5(NME8):c.735C>T (p.Asp245=)
NM_016616.5(NME8):c.759G>A (p.Glu253=)
NM_016616.5(NME8):c.819-20T>C
NM_016616.5(NME8):c.882T>C (p.Ala294=)
NM_016616.5(NME8):c.91+11T>A
NM_016616.5(NME8):c.91+16G>A
NM_016616.5(NME8):c.92-19A>G
NM_016616.5(NME8):c.995-4T>G
NM_017777.4(MKS1):c.1012T>C (p.Leu338=) rs1968819648
NM_017777.4(MKS1):c.1024+16A>T
NM_017777.4(MKS1):c.1024+8A>G
NM_017777.4(MKS1):c.1025-18T>C
NM_017777.4(MKS1):c.1025-20A>G
NM_017777.4(MKS1):c.1026C>T (p.His342=)
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
NM_017777.4(MKS1):c.1062A>G (p.Val354=) rs2143757521
NM_017777.4(MKS1):c.1065A>G (p.Thr355=) rs2143757456
NM_017777.4(MKS1):c.1071C>T (p.Thr357=) rs939716801
NM_017777.4(MKS1):c.1077C>T (p.Thr359=) rs1968672310
NM_017777.4(MKS1):c.1092A>C (p.Ala364=) rs1379453194
NM_017777.4(MKS1):c.1095+10A>G
NM_017777.4(MKS1):c.1095+14G>A
NM_017777.4(MKS1):c.1095+14G>T rs2143756719
NM_017777.4(MKS1):c.1095+17C>T
NM_017777.4(MKS1):c.1096-10C>A
NM_017777.4(MKS1):c.1096-10C>G rs766137727
NM_017777.4(MKS1):c.1096-19A>C
NM_017777.4(MKS1):c.1096-20T>A
NM_017777.4(MKS1):c.1096-20del
NM_017777.4(MKS1):c.1096-4A>G rs1320626045
NM_017777.4(MKS1):c.1096-7T>C rs2143753917
NM_017777.4(MKS1):c.1096-9T>C rs2143753947
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
NM_017777.4(MKS1):c.1128G>T (p.Thr376=) rs369141016
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
NM_017777.4(MKS1):c.1149T>C (p.His383=)
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1165+18T>A
NM_017777.4(MKS1):c.1165+7del
NM_017777.4(MKS1):c.1165+9C>T
NM_017777.4(MKS1):c.1166-11C>T
NM_017777.4(MKS1):c.1166-16C>G
NM_017777.4(MKS1):c.1166-20G>A
NM_017777.4(MKS1):c.1166-5C>T
NM_017777.4(MKS1):c.1167T>C (p.Asp389=)
NM_017777.4(MKS1):c.1176G>C (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1176G>T (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1185T>C (p.Pro395=)
NM_017777.4(MKS1):c.1191C>G (p.Leu397=)
NM_017777.4(MKS1):c.1203C>A (p.Val401=)
NM_017777.4(MKS1):c.1206C>T (p.Leu402=) rs202040080
NM_017777.4(MKS1):c.1210C>T (p.Leu404=)
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1224G>A (p.Gln408=) rs1216137211
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=) rs1968622013
NM_017777.4(MKS1):c.1254G>A (p.Val418=) rs2143750611
NM_017777.4(MKS1):c.1273+10C>T
NM_017777.4(MKS1):c.1273+13C>A
NM_017777.4(MKS1):c.1273+17G>A
NM_017777.4(MKS1):c.1273+17del rs2143750048
NM_017777.4(MKS1):c.1273+18C>A
NM_017777.4(MKS1):c.1273+7G>T rs569463908
NM_017777.4(MKS1):c.1274-10C>G rs751088795
NM_017777.4(MKS1):c.1274-13T>A
NM_017777.4(MKS1):c.1274-14C>T
NM_017777.4(MKS1):c.1274-16C>T
NM_017777.4(MKS1):c.1274-18T>C
NM_017777.4(MKS1):c.1274-4G>T rs377033778
NM_017777.4(MKS1):c.1274-7T>C
NM_017777.4(MKS1):c.1274-9dup
NM_017777.4(MKS1):c.1281C>T (p.His427=) rs2143744776
NM_017777.4(MKS1):c.1284C>G (p.Thr428=)
NM_017777.4(MKS1):c.1299G>T (p.Thr433=) rs749503564
NM_017777.4(MKS1):c.1305A>G (p.Arg435=) rs1007814770
NM_017777.4(MKS1):c.1323G>A (p.Thr441=) rs781038098
NM_017777.4(MKS1):c.1323G>C (p.Thr441=)
NM_017777.4(MKS1):c.1326G>A (p.Val442=) rs569499621
NM_017777.4(MKS1):c.1341G>A (p.Arg447=) rs1294257326
NM_017777.4(MKS1):c.1353C>A (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1407+10G>A
NM_017777.4(MKS1):c.1407+19G>A
NM_017777.4(MKS1):c.1407+20_1407+25del
NM_017777.4(MKS1):c.1407+9T>A rs2143742823
NM_017777.4(MKS1):c.1408-13T>C rs2143738734
NM_017777.4(MKS1):c.1408-18C>A rs2143738791
NM_017777.4(MKS1):c.1408-20G>C
NM_017777.4(MKS1):c.1408-21T>G
NM_017777.4(MKS1):c.1408-23G>A
NM_017777.4(MKS1):c.1408-29C>T rs2143738957
NM_017777.4(MKS1):c.1408-35C>T rs2143738994
NM_017777.4(MKS1):c.1408-9A>G
NM_017777.4(MKS1):c.1410G>A (p.Gly470=) rs2143738492
NM_017777.4(MKS1):c.1413A>G (p.Glu471=) rs1597975817
NM_017777.4(MKS1):c.1416C>G (p.Arg472=)
NM_017777.4(MKS1):c.141C>A (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.141C>T (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.1422C>T (p.Ser474=) rs1597975737
NM_017777.4(MKS1):c.1425C>A (p.Arg475=) rs2143738206
NM_017777.4(MKS1):c.1434C>T (p.Leu478=) rs1463944569
NM_017777.4(MKS1):c.1446C>T (p.Thr482=) rs2143737944
NM_017777.4(MKS1):c.1449A>G (p.Thr483=) rs2143737889
NM_017777.4(MKS1):c.144G>C (p.Gly48=) rs2143838897
NM_017777.4(MKS1):c.1458C>T (p.Val486=)
NM_017777.4(MKS1):c.1470G>A (p.Leu490=) rs1968517645
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
NM_017777.4(MKS1):c.147G>A (p.Lys49=) rs2143838854
NM_017777.4(MKS1):c.1490+15C>A
NM_017777.4(MKS1):c.1490+17T>A
NM_017777.4(MKS1):c.1490+18C>G
NM_017777.4(MKS1):c.1490+8A>T
NM_017777.4(MKS1):c.1490+9C>T rs1555596804
NM_017777.4(MKS1):c.1491-10C>T
NM_017777.4(MKS1):c.1491-13G>A rs2143736475
NM_017777.4(MKS1):c.1491-15C>G
NM_017777.4(MKS1):c.1491-17G>T
NM_017777.4(MKS1):c.1491-20T>C
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1491-4G>T rs1555596758
NM_017777.4(MKS1):c.1491-7C>T
NM_017777.4(MKS1):c.1491-8C>A
NM_017777.4(MKS1):c.1497C>T (p.Phe499=)
NM_017777.4(MKS1):c.1515T>A (p.Leu505=)
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
NM_017777.4(MKS1):c.1557C>T (p.Phe519=) rs1433060710
NM_017777.4(MKS1):c.1560C>T (p.Ser520=) rs2143735433
NM_017777.4(MKS1):c.1575T>A (p.Ile525=)
NM_017777.4(MKS1):c.1578C>T (p.His526=)
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+15C>G
NM_017777.4(MKS1):c.1588+16C>A
NM_017777.4(MKS1):c.1588+16C>G
NM_017777.4(MKS1):c.1588+20T>C rs2143734918
NM_017777.4(MKS1):c.1588+7C>A
NM_017777.4(MKS1):c.1588+7C>T
NM_017777.4(MKS1):c.1589-10T>A rs2143734265
NM_017777.4(MKS1):c.1589-11T>C
NM_017777.4(MKS1):c.1589-15C>G
NM_017777.4(MKS1):c.1589-19A>G
NM_017777.4(MKS1):c.1589-19A>T
NM_017777.4(MKS1):c.1590G>A (p.Glu530=)
NM_017777.4(MKS1):c.159C>T (p.Asp53=) rs907068935
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1605C>T (p.Ala535=) rs35493987
NM_017777.4(MKS1):c.1608G>A (p.Arg536=) rs2143733718
NM_017777.4(MKS1):c.165C>A (p.Ala55=)
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1671G>T (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1677C>T (p.Ser559=) rs921675582
NM_017777.4(MKS1):c.177T>G (p.Pro59=) rs2143838526
NM_017777.4(MKS1):c.190+11C>G
NM_017777.4(MKS1):c.190+11C>T rs529293609
NM_017777.4(MKS1):c.190+15G>T
NM_017777.4(MKS1):c.190+20T>C
NM_017777.4(MKS1):c.190+8dup rs766767996
NM_017777.4(MKS1):c.191-10G>T rs756533204
NM_017777.4(MKS1):c.191-17C>T
NM_017777.4(MKS1):c.191-19C>G
NM_017777.4(MKS1):c.191-9T>C rs2143823943
NM_017777.4(MKS1):c.201C>G (p.Arg67=) rs2143823724
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
NM_017777.4(MKS1):c.207G>A (p.Glu69=) rs1969242335
NM_017777.4(MKS1):c.213C>T (p.Asp71=) rs142813109
NM_017777.4(MKS1):c.219G>A (p.Glu73=)
NM_017777.4(MKS1):c.222G>A (p.Glu74=)
NM_017777.4(MKS1):c.225G>A (p.Glu75=) rs775351056
NM_017777.4(MKS1):c.237G>A (p.Gly79=) rs2143823165
NM_017777.4(MKS1):c.252C>T (p.Leu84=) rs969699321
NM_017777.4(MKS1):c.261+10T>C rs781466261
NM_017777.4(MKS1):c.261+10T>G rs781466261
NM_017777.4(MKS1):c.261+15C>G
NM_017777.4(MKS1):c.261+16_261+17del
NM_017777.4(MKS1):c.262-10G>A rs772852025
NM_017777.4(MKS1):c.262-10G>C
NM_017777.4(MKS1):c.262-12T>C
NM_017777.4(MKS1):c.262-13A>G
NM_017777.4(MKS1):c.262-16C>T
NM_017777.4(MKS1):c.262-19T>C
NM_017777.4(MKS1):c.262-7_262-6del rs2143820463
NM_017777.4(MKS1):c.276G>A (p.Leu92=)
NM_017777.4(MKS1):c.282A>G (p.Gln94=)
NM_017777.4(MKS1):c.285T>C (p.Asn95=)
NM_017777.4(MKS1):c.291A>G (p.Thr97=) rs1597999676
NM_017777.4(MKS1):c.30C>G (p.Thr10=) rs576239597
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
NM_017777.4(MKS1):c.324T>C (p.Arg108=) rs1007384458
NM_017777.4(MKS1):c.351G>C (p.Ser117=) rs370781583
NM_017777.4(MKS1):c.354T>G (p.Gly118=) rs1969193189
NM_017777.4(MKS1):c.369A>G (p.Arg123=) rs997559994
NM_017777.4(MKS1):c.381C>G (p.Thr127=)
NM_017777.4(MKS1):c.390C>T (p.Asp130=)
NM_017777.4(MKS1):c.39A>G (p.Ala13=)
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
NM_017777.4(MKS1):c.417+10T>C rs780977789
NM_017777.4(MKS1):c.417+13C>T
NM_017777.4(MKS1):c.417+15A>G
NM_017777.4(MKS1):c.418-4C>G rs2143809915
NM_017777.4(MKS1):c.427A>C (p.Arg143=)
NM_017777.4(MKS1):c.438T>C (p.Thr146=)
NM_017777.4(MKS1):c.453G>A (p.Val151=)
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
NM_017777.4(MKS1):c.468C>G (p.Val156=) rs199684837
NM_017777.4(MKS1):c.483T>C (p.Asn161=) rs1472188901
NM_017777.4(MKS1):c.492T>A (p.Arg164=) rs2143808753
NM_017777.4(MKS1):c.498G>A (p.Arg166=) rs778956664
NM_017777.4(MKS1):c.513G>C (p.Gly171=) rs2143808375
NM_017777.4(MKS1):c.515+13A>G
NM_017777.4(MKS1):c.515+13A>T
NM_017777.4(MKS1):c.515+15G>T
NM_017777.4(MKS1):c.515+19T>C
NM_017777.4(MKS1):c.515+9G>C rs752279060
NM_017777.4(MKS1):c.515+9G>T
NM_017777.4(MKS1):c.516-5C>A
NM_017777.4(MKS1):c.516-9G>A rs1969068781
NM_017777.4(MKS1):c.519G>A (p.Glu173=) rs901476301
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
NM_017777.4(MKS1):c.528C>T (p.Ile176=) rs2143805374
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.546C>T (p.Val182=) rs1969065058
NM_017777.4(MKS1):c.555G>A (p.Glu185=) rs2143804915
NM_017777.4(MKS1):c.564A>G (p.Glu188=) rs2143804818
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
NM_017777.4(MKS1):c.573C>G (p.Val191=) rs1247479841
NM_017777.4(MKS1):c.582C>T (p.Asn194=) rs940590057
NM_017777.4(MKS1):c.600T>G (p.Pro200=)
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
NM_017777.4(MKS1):c.644+15T>A rs2143803705
NM_017777.4(MKS1):c.644+18C>T
NM_017777.4(MKS1):c.645-12_645-10del rs2143800934
NM_017777.4(MKS1):c.645-7T>C
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
NM_017777.4(MKS1):c.663T>C (p.Tyr221=) rs1597993685
NM_017777.4(MKS1):c.675G>A (p.Leu225=) rs1969025949
NM_017777.4(MKS1):c.693T>C (p.Asp231=) rs777474025
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
NM_017777.4(MKS1):c.705G>T (p.Val235=)
NM_017777.4(MKS1):c.726C>T (p.Phe242=)
NM_017777.4(MKS1):c.729G>C (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.741A>C (p.Gly247=)
NM_017777.4(MKS1):c.744C>T (p.Pro248=)
NM_017777.4(MKS1):c.749+11G>A
NM_017777.4(MKS1):c.749+14G>T
NM_017777.4(MKS1):c.749+18G>C
NM_017777.4(MKS1):c.749+20G>T
NM_017777.4(MKS1):c.749+9A>C rs2143799781
NM_017777.4(MKS1):c.750-14T>C
NM_017777.4(MKS1):c.750-15G>C
NM_017777.4(MKS1):c.750-18G>A
NM_017777.4(MKS1):c.750-5T>C
NM_017777.4(MKS1):c.750-7C>T rs2143795530
NM_017777.4(MKS1):c.750-8C>A rs1323177668
NM_017777.4(MKS1):c.750-9A>C rs2143795587
NM_017777.4(MKS1):c.756G>A (p.Glu252=)
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.789T>C (p.Tyr263=) rs1968972848
NM_017777.4(MKS1):c.792G>T (p.Thr264=) rs1272905094
NM_017777.4(MKS1):c.795C>T (p.Ile265=) rs750597104
NM_017777.4(MKS1):c.798C>T (p.Asp266=) rs1968971741
NM_017777.4(MKS1):c.80+10C>T
NM_017777.4(MKS1):c.80+11C>G
NM_017777.4(MKS1):c.80+11del
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+16C>T
NM_017777.4(MKS1):c.80+17A>G
NM_017777.4(MKS1):c.80+7G>T
NM_017777.4(MKS1):c.801T>C (p.Asn267=) rs753798549
NM_017777.4(MKS1):c.804T>C (p.Val268=) rs764069453
NM_017777.4(MKS1):c.81-11T>C
NM_017777.4(MKS1):c.81-13C>T
NM_017777.4(MKS1):c.81-14G>A
NM_017777.4(MKS1):c.81-14del
NM_017777.4(MKS1):c.81-5G>T rs1969411105
NM_017777.4(MKS1):c.81-9T>C
NM_017777.4(MKS1):c.825G>A (p.Glu275=) rs921504865
NM_017777.4(MKS1):c.831G>A (p.Glu277=) rs2143793926
NM_017777.4(MKS1):c.840A>G (p.Glu280=) rs1406421081
NM_017777.4(MKS1):c.843G>T (p.Arg281=)
NM_017777.4(MKS1):c.84C>T (p.Val28=)
NM_017777.4(MKS1):c.858+17T>G
NM_017777.4(MKS1):c.858+7G>C rs918270665
NM_017777.4(MKS1):c.858+7G>T rs918270665
NM_017777.4(MKS1):c.858+9A>T
NM_017777.4(MKS1):c.859-19GTTTG[3]
NM_017777.4(MKS1):c.859-5C>T
NM_017777.4(MKS1):c.870G>T (p.Arg290=) rs769489826
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
NM_017777.4(MKS1):c.915+19T>C
NM_017777.4(MKS1):c.915+20G>A
NM_017777.4(MKS1):c.915+8G>T
NM_017777.4(MKS1):c.916-16C>T
NM_017777.4(MKS1):c.916-20C>T
NM_017777.4(MKS1):c.916-6C>T rs765028851
NM_017777.4(MKS1):c.916-7A>C rs2143778235
NM_017777.4(MKS1):c.918T>A (p.Thr306=)
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
NM_017777.4(MKS1):c.921C>G (p.Val307=)
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
NM_017777.4(MKS1):c.958+13C>G
NM_017777.4(MKS1):c.958+14T>C
NM_017777.4(MKS1):c.958+18A>G
NM_017777.4(MKS1):c.958+7G>T
NM_017777.4(MKS1):c.958+8T>A
NM_017777.4(MKS1):c.959-10TC[2]
NM_017777.4(MKS1):c.959-16del
NM_017777.4(MKS1):c.959-20C>T
NM_017777.4(MKS1):c.959-7C>G
NM_017777.4(MKS1):c.959-8T>C rs763444295
NM_017777.4(MKS1):c.959-9C>A rs538316917
NM_017777.4(MKS1):c.959-9C>G rs538316917
NM_017777.4(MKS1):c.981T>C (p.Tyr327=)
NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro) rs1184837316
NM_017802.4(DNAAF5):c.1024+10C>A
NM_017802.4(DNAAF5):c.1024+10C>T rs375071932
NM_017802.4(DNAAF5):c.1024+11G>A
NM_017802.4(DNAAF5):c.1024+12C>A
NM_017802.4(DNAAF5):c.1024+19G>A
NM_017802.4(DNAAF5):c.1025-14C>T
NM_017802.4(DNAAF5):c.1025-7G>C
NM_017802.4(DNAAF5):c.1025-8C>T
NM_017802.4(DNAAF5):c.1050G>T (p.Arg350=)
NM_017802.4(DNAAF5):c.105G>A (p.Leu35=)
NM_017802.4(DNAAF5):c.1092G>C (p.Leu364=)
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)
NM_017802.4(DNAAF5):c.1155G>A (p.Val385=)
NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)
NM_017802.4(DNAAF5):c.1200C>T (p.Val400=)
NM_017802.4(DNAAF5):c.120C>G (p.Ala40=)
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=)
NM_017802.4(DNAAF5):c.1257+16C>G
NM_017802.4(DNAAF5):c.1258-11C>T
NM_017802.4(DNAAF5):c.1258-17A>G
NM_017802.4(DNAAF5):c.1258-4G>A rs202056316
NM_017802.4(DNAAF5):c.1258-4G>T
NM_017802.4(DNAAF5):c.1263C>T (p.Thr421=)
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
NM_017802.4(DNAAF5):c.1290T>C (p.Phe430=) rs2128078886
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=)
NM_017802.4(DNAAF5):c.1326G>A (p.Ser442=)
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=)
NM_017802.4(DNAAF5):c.1350C>G (p.Ala450=) rs2128078908
NM_017802.4(DNAAF5):c.1353C>T (p.Ser451=)
NM_017802.4(DNAAF5):c.141G>A (p.Arg47=)
NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)
NM_017802.4(DNAAF5):c.1437G>A (p.Leu479=) rs2128078963
NM_017802.4(DNAAF5):c.1470+12T>G rs2128078986
NM_017802.4(DNAAF5):c.1470+9A>G
NM_017802.4(DNAAF5):c.1471-7C>T
NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)
NM_017802.4(DNAAF5):c.1488C>T (p.Arg496=)
NM_017802.4(DNAAF5):c.1497G>A (p.Leu499=)
NM_017802.4(DNAAF5):c.1515G>A (p.Val505=)
NM_017802.4(DNAAF5):c.1518T>C (p.Ser506=)
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=)
NM_017802.4(DNAAF5):c.1563C>T (p.Asp521=)
NM_017802.4(DNAAF5):c.1575A>C (p.Thr525=) rs754710920
NM_017802.4(DNAAF5):c.15G>C (p.Gly5=) rs1457734920
NM_017802.4(DNAAF5):c.1614+13G>A
NM_017802.4(DNAAF5):c.1635A>G (p.Ser545=)
NM_017802.4(DNAAF5):c.1641C>T (p.Ala547=)
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=)
NM_017802.4(DNAAF5):c.169C>T (p.Leu57=)
NM_017802.4(DNAAF5):c.1704G>A (p.Glu568=) rs2128081094
NM_017802.4(DNAAF5):c.1706G>A (p.Arg569Gln)
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=)
NM_017802.4(DNAAF5):c.1716G>A (p.Ala572=) rs778984123
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)
NM_017802.4(DNAAF5):c.1734C>T (p.Thr578=) rs201710687
NM_017802.4(DNAAF5):c.1773C>A (p.Val591=) rs185154075
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
NM_017802.4(DNAAF5):c.177G>A (p.Glu59=)
NM_017802.4(DNAAF5):c.1783+12C>G
NM_017802.4(DNAAF5):c.1783+13G>T rs201316573
NM_017802.4(DNAAF5):c.1784-14G>A
NM_017802.4(DNAAF5):c.1784-14_1784-13del rs754684802
NM_017802.4(DNAAF5):c.1784-19C>T
NM_017802.4(DNAAF5):c.1785C>A (p.Gly595=)
NM_017802.4(DNAAF5):c.1791C>T (p.Ala597=)
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=)
NM_017802.4(DNAAF5):c.1824G>A (p.Thr608=)
NM_017802.4(DNAAF5):c.1839G>A (p.Leu613=) rs751508824
NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=)
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=)
NM_017802.4(DNAAF5):c.1885C>T (p.Leu629=)
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala)
NM_017802.4(DNAAF5):c.1931+9G>A
NM_017802.4(DNAAF5):c.1932-14C>T
NM_017802.4(DNAAF5):c.1932-15C>T
NM_017802.4(DNAAF5):c.1932-16_1932-15del
NM_017802.4(DNAAF5):c.1932-20C>T
NM_017802.4(DNAAF5):c.1932-9C>T
NM_017802.4(DNAAF5):c.1956G>A (p.Thr652=)
NM_017802.4(DNAAF5):c.1959G>A (p.Val653=) rs1583517339
NM_017802.4(DNAAF5):c.1965G>A (p.Lys655=)
NM_017802.4(DNAAF5):c.1977C>G (p.Ala659=)
NM_017802.4(DNAAF5):c.2016C>A (p.Ala672=)
NM_017802.4(DNAAF5):c.2028T>C (p.Ala676=) rs1583517485
NM_017802.4(DNAAF5):c.2031C>T (p.Ala677=)
NM_017802.4(DNAAF5):c.2067C>T (p.Val689=)
NM_017802.4(DNAAF5):c.2082+8del rs878855035
NM_017802.4(DNAAF5):c.2083-17G>A
NM_017802.4(DNAAF5):c.210G>A (p.Gln70=)
NM_017802.4(DNAAF5):c.2119C>T (p.Leu707=)
NM_017802.4(DNAAF5):c.2128C>T (p.Leu710=)
NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)
NM_017802.4(DNAAF5):c.2151G>A (p.Thr717=)
NM_017802.4(DNAAF5):c.2151G>C (p.Thr717=)
NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)
NM_017802.4(DNAAF5):c.2172T>C (p.Ile724=)
NM_017802.4(DNAAF5):c.2178C>T (p.Asn726=)
NM_017802.4(DNAAF5):c.2181G>A (p.Thr727=) rs746205271
NM_017802.4(DNAAF5):c.2208G>A (p.Thr736=)
NM_017802.4(DNAAF5):c.2217G>A (p.Glu739=)
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=)
NM_017802.4(DNAAF5):c.2240-18C>T
NM_017802.4(DNAAF5):c.2329G>A (p.Ala777Thr)
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=)
NM_017802.4(DNAAF5):c.2370G>A (p.Leu790=)
NM_017802.4(DNAAF5):c.2373C>T (p.Tyr791=)
NM_017802.4(DNAAF5):c.237G>A (p.Pro79=) rs2128538246
NM_017802.4(DNAAF5):c.2385G>A (p.Leu795=) rs112210659
NM_017802.4(DNAAF5):c.2389C>T (p.His797Tyr)
NM_017802.4(DNAAF5):c.2397C>T (p.Asp799=)
NM_017802.4(DNAAF5):c.2431+10C>T
NM_017802.4(DNAAF5):c.2431+11G>A
NM_017802.4(DNAAF5):c.2431+19G>A
NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)
NM_017802.4(DNAAF5):c.2541T>C (p.His847=)
NM_017802.4(DNAAF5):c.298C>T (p.Leu100=) rs1583467930
NM_017802.4(DNAAF5):c.309C>A (p.Gly103=)
NM_017802.4(DNAAF5):c.30G>A (p.Val10=) rs878855037
NM_017802.4(DNAAF5):c.315C>T (p.Arg105=) rs1583467957
NM_017802.4(DNAAF5):c.333C>G (p.Arg111=)
NM_017802.4(DNAAF5):c.339C>T (p.Ala113=)
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)
NM_017802.4(DNAAF5):c.351G>A (p.Leu117=)
NM_017802.4(DNAAF5):c.357C>T (p.Pro119=)
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)
NM_017802.4(DNAAF5):c.384C>G (p.Pro128=) rs2128538410
NM_017802.4(DNAAF5):c.387G>A (p.Val129=)
NM_017802.4(DNAAF5):c.432G>T (p.Ala144=)
NM_017802.4(DNAAF5):c.465G>A (p.Leu155=)
NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)
NM_017802.4(DNAAF5):c.522C>T (p.Ser174=)
NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)
NM_017802.4(DNAAF5):c.528C>T (p.Leu176=)
NM_017802.4(DNAAF5):c.543C>G (p.Ala181=)
NM_017802.4(DNAAF5):c.543C>T (p.Ala181=)
NM_017802.4(DNAAF5):c.582G>T (p.Ala194=)
NM_017802.4(DNAAF5):c.595+13G>A
NM_017802.4(DNAAF5):c.595+14G>A
NM_017802.4(DNAAF5):c.595+15C>T
NM_017802.4(DNAAF5):c.595+8C>T
NM_017802.4(DNAAF5):c.596-11C>G
NM_017802.4(DNAAF5):c.596-17G>A rs886038638
NM_017802.4(DNAAF5):c.596-19G>A
NM_017802.4(DNAAF5):c.596-5C>T
NM_017802.4(DNAAF5):c.615G>A (p.Ser205=)
NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)
NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)
NM_017802.4(DNAAF5):c.630G>T (p.Gly210=)
NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)
NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)
NM_017802.4(DNAAF5):c.699A>G (p.Ala233=) rs1781504659
NM_017802.4(DNAAF5):c.69G>A (p.Glu23=)
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)
NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=) rs146014916
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)
NM_017802.4(DNAAF5):c.780+10G>T
NM_017802.4(DNAAF5):c.780+14C>T
NM_017802.4(DNAAF5):c.781-4G>A
NM_017802.4(DNAAF5):c.781-5del
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln) rs201059622
NM_017802.4(DNAAF5):c.78G>A (p.Glu26=) rs1583467478
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)
NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)
NM_017802.4(DNAAF5):c.804G>A (p.Val268=)
NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)
NM_017802.4(DNAAF5):c.819G>A (p.Leu273=) rs2128072827
NM_017802.4(DNAAF5):c.81G>A (p.Leu27=)
NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)
NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)
NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)
NM_017802.4(DNAAF5):c.903C>G (p.Val301=) rs2128072874
NM_017802.4(DNAAF5):c.905+14C>T
NM_017802.4(DNAAF5):c.905+19G>A
NM_017802.4(DNAAF5):c.905+7G>A
NM_017802.4(DNAAF5):c.906-14_906-11del rs1444250614
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)
NM_017802.4(DNAAF5):c.99C>T (p.Arg33=)
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
NM_017950.4(CCDC40):c.1068G>C (p.Ser356=)
NM_017950.4(CCDC40):c.1083G>A (p.Gln361=) rs1598488399
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
NM_017950.4(CCDC40):c.1159+13G>A
NM_017950.4(CCDC40):c.1159+15C>T
NM_017950.4(CCDC40):c.1160-13C>T rs2037808461
NM_017950.4(CCDC40):c.1160-15C>T
NM_017950.4(CCDC40):c.1160-17C>T
NM_017950.4(CCDC40):c.1160-4G>A
NM_017950.4(CCDC40):c.1263G>A (p.Val421=)
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
NM_017950.4(CCDC40):c.1317+16G>A
NM_017950.4(CCDC40):c.1318-14A>G
NM_017950.4(CCDC40):c.1318-19T>C
NM_017950.4(CCDC40):c.1318-5C>G
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
NM_017950.4(CCDC40):c.1440+17C>A
NM_017950.4(CCDC40):c.1440+17C>T
NM_017950.4(CCDC40):c.1440+19G>A
NM_017950.4(CCDC40):c.1441-13C>G
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.147C>T (p.Ser49=) rs1301657020
NM_017950.4(CCDC40):c.1485C>A (p.Ile495=) rs771128827
NM_017950.4(CCDC40):c.1527C>T (p.Arg509=)
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
NM_017950.4(CCDC40):c.1562+2003C>A
NM_017950.4(CCDC40):c.1563-16C>T
NM_017950.4(CCDC40):c.1563-5T>C rs2143733765
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=) rs371383125
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
NM_017950.4(CCDC40):c.2160G>A (p.Thr720=)
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=)
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
NM_017950.4(CCDC40):c.2235+11A>G
NM_017950.4(CCDC40):c.2236-6G>A rs1402665990
NM_017950.4(CCDC40):c.2236-8C>T
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
NM_017950.4(CCDC40):c.240A>G (p.Glu80=) rs2143576891
NM_017950.4(CCDC40):c.2449+12C>T
NM_017950.4(CCDC40):c.2449+13G>A
NM_017950.4(CCDC40):c.2449+15G>A
NM_017950.4(CCDC40):c.2449+9C>T
NM_017950.4(CCDC40):c.2450-4A>G
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=) rs760217617
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=) rs1351266176
NM_017950.4(CCDC40):c.2619+10T>C
NM_017950.4(CCDC40):c.2619+16C>T
NM_017950.4(CCDC40):c.2619+17G>A
NM_017950.4(CCDC40):c.2619+17G>T
NM_017950.4(CCDC40):c.2619+19A>G
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=) rs371516381
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2712-17C>T
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=) rs1555593479
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
NM_017950.4(CCDC40):c.2832+16C>T
NM_017950.4(CCDC40):c.2832+17G>A
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)
NM_017950.4(CCDC40):c.29+12C>G
NM_017950.4(CCDC40):c.29+1_29+13dup rs771732758
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2925C>G (p.Ala975=)
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=) rs199575834
NM_017950.4(CCDC40):c.30-7A>C
NM_017950.4(CCDC40):c.3022-4C>G
NM_017950.4(CCDC40):c.3022-6T>C
NM_017950.4(CCDC40):c.3027C>A (p.Thr1009=)
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
NM_017950.4(CCDC40):c.3132C>T (p.Phe1044=)
NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
NM_017950.4(CCDC40):c.3181-4C>A
NM_017950.4(CCDC40):c.3181-4C>G
NM_017950.4(CCDC40):c.3198G>A (p.Val1066=)
NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=) rs186591691
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
NM_017950.4(CCDC40):c.408T>C (p.Ala136=)
NM_017950.4(CCDC40):c.414C>T (p.Leu138=)
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
NM_017950.4(CCDC40):c.489C>T (p.His163=)
NM_017950.4(CCDC40):c.48A>G (p.Gly16=) rs2143570184
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.490G>C (p.Gly164Arg)
NM_017950.4(CCDC40):c.504G>T (p.Pro168=)
NM_017950.4(CCDC40):c.534G>A (p.Gly178=) rs2143578294
NM_017950.4(CCDC40):c.553-10C>G
NM_017950.4(CCDC40):c.564A>G (p.Thr188=) rs2037448406
NM_017950.4(CCDC40):c.672G>A (p.Glu224=)
NM_017950.4(CCDC40):c.676+9C>A
NM_017950.4(CCDC40):c.677-16C>T
NM_017950.4(CCDC40):c.677-18C>T
NM_017950.4(CCDC40):c.677-4C>A
NM_017950.4(CCDC40):c.690G>T (p.Gly230=) rs750834095
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
NM_017950.4(CCDC40):c.705C>T (p.His235=)
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
NM_017950.4(CCDC40):c.855+12T>A
NM_017950.4(CCDC40):c.855+20_855+24del rs2037498801
NM_017950.4(CCDC40):c.856-9T>C rs1193011376
NM_017950.4(CCDC40):c.867A>G (p.Val289=) rs1386295352
NM_017950.4(CCDC40):c.93+14T>C
NM_017950.4(CCDC40):c.93+15G>A
NM_017950.4(CCDC40):c.93+20G>A
NM_017950.4(CCDC40):c.93+7T>C
NM_017950.4(CCDC40):c.939+10C>T
NM_017950.4(CCDC40):c.939+13C>G
NM_017950.4(CCDC40):c.94-12A>G
NM_017990.5(PDPR):c.1360G>T (p.Gly454Cys) rs202246074
NM_018051.5(DYNC2I1):c.1059+17T>G
NM_018051.5(DYNC2I1):c.1059+18T>C
NM_018051.5(DYNC2I1):c.1060-18T>C
NM_018051.5(DYNC2I1):c.1113A>T (p.Thr371=)
NM_018051.5(DYNC2I1):c.1137+9A>G
NM_018051.5(DYNC2I1):c.1203A>C (p.Ser401=)
NM_018051.5(DYNC2I1):c.1357+11C>A rs201588197
NM_018051.5(DYNC2I1):c.1358-20T>C
NM_018051.5(DYNC2I1):c.1416A>C (p.Ser472=) rs1425014206
NM_018051.5(DYNC2I1):c.1460+10T>C rs768563970
NM_018051.5(DYNC2I1):c.15+12G>C
NM_018051.5(DYNC2I1):c.15+12G>T rs922864274
NM_018051.5(DYNC2I1):c.15+8C>T
NM_018051.5(DYNC2I1):c.1584C>G (p.Thr528=)
NM_018051.5(DYNC2I1):c.1590+11G>A
NM_018051.5(DYNC2I1):c.1591-9G>T
NM_018051.5(DYNC2I1):c.1593A>G (p.Ala531=) rs2129484908
NM_018051.5(DYNC2I1):c.16-13C>T rs2129477304
NM_018051.5(DYNC2I1):c.1605T>C (p.Cys535=)
NM_018051.5(DYNC2I1):c.1614T>C (p.Asp538=)
NM_018051.5(DYNC2I1):c.1638G>A (p.Thr546=)
NM_018051.5(DYNC2I1):c.1656G>A (p.Arg552=)
NM_018051.5(DYNC2I1):c.1680A>G (p.Gly560=)
NM_018051.5(DYNC2I1):c.1702+13T>C
NM_018051.5(DYNC2I1):c.1703-11G>T rs1349093711
NM_018051.5(DYNC2I1):c.1755T>C (p.Thr585=) rs372205758
NM_018051.5(DYNC2I1):c.1776G>A (p.Leu592=)
NM_018051.5(DYNC2I1):c.1792-19A>T
NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=) rs754304837
NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)
NM_018051.5(DYNC2I1):c.1839C>T (p.Ser613=) rs1848734445
NM_018051.5(DYNC2I1):c.1848T>C (p.Leu616=)
NM_018051.5(DYNC2I1):c.1902C>T (p.Thr634=)
NM_018051.5(DYNC2I1):c.1911A>G (p.Pro637=)
NM_018051.5(DYNC2I1):c.1911A>T (p.Pro637=)
NM_018051.5(DYNC2I1):c.1921+18A>C
NM_018051.5(DYNC2I1):c.1921+8G>T
NM_018051.5(DYNC2I1):c.1962G>A (p.Arg654=)
NM_018051.5(DYNC2I1):c.1992C>T (p.Pro664=)
NM_018051.5(DYNC2I1):c.2061A>G (p.Ser687=)
NM_018051.5(DYNC2I1):c.2091C>T (p.Ser697=)
NM_018051.5(DYNC2I1):c.2094+12G>C
NM_018051.5(DYNC2I1):c.2095-7C>T
NM_018051.5(DYNC2I1):c.2139T>C (p.Phe713=)
NM_018051.5(DYNC2I1):c.2142C>T (p.Ala714=)
NM_018051.5(DYNC2I1):c.2211G>A (p.Thr737=)
NM_018051.5(DYNC2I1):c.2217C>T (p.Ser739=)
NM_018051.5(DYNC2I1):c.2232G>A (p.Thr744=)
NM_018051.5(DYNC2I1):c.2232G>T (p.Thr744=) rs751401798
NM_018051.5(DYNC2I1):c.2241C>T (p.Thr747=)
NM_018051.5(DYNC2I1):c.2247G>C (p.Thr749=)
NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)
NM_018051.5(DYNC2I1):c.2310T>A (p.Pro770=)
NM_018051.5(DYNC2I1):c.2334G>A (p.Lys778=)
NM_018051.5(DYNC2I1):c.2371+16C>T
NM_018051.5(DYNC2I1):c.2372-21_2372-18del
NM_018051.5(DYNC2I1):c.2427T>C (p.Asn809=)
NM_018051.5(DYNC2I1):c.2433+20G>A
NM_018051.5(DYNC2I1):c.2433+7_2433+10dup
NM_018051.5(DYNC2I1):c.2434-11del
NM_018051.5(DYNC2I1):c.2434-19T>C
NM_018051.5(DYNC2I1):c.2439T>G (p.Val813=)
NM_018051.5(DYNC2I1):c.2457A>G (p.Ala819=)
NM_018051.5(DYNC2I1):c.2485+16A>G
NM_018051.5(DYNC2I1):c.2486-4T>G
NM_018051.5(DYNC2I1):c.2547-10_2547-6del rs1850505967
NM_018051.5(DYNC2I1):c.2568A>G (p.Glu856=)
NM_018051.5(DYNC2I1):c.2583A>G (p.Thr861=)
NM_018051.5(DYNC2I1):c.2637C>T (p.Gly879=)
NM_018051.5(DYNC2I1):c.2646+9T>C
NM_018051.5(DYNC2I1):c.2647-8C>T
NM_018051.5(DYNC2I1):c.2694A>G (p.Lys898=) rs2129487917
NM_018051.5(DYNC2I1):c.2695C>T (p.Leu899=)
NM_018051.5(DYNC2I1):c.2778+17_2778+18del
NM_018051.5(DYNC2I1):c.2779-5C>T
NM_018051.5(DYNC2I1):c.2790G>A (p.Ser930=)
NM_018051.5(DYNC2I1):c.2856G>A (p.Thr952=)
NM_018051.5(DYNC2I1):c.2874C>T (p.Thr958=)
NM_018051.5(DYNC2I1):c.2937C>T (p.Ile979=)
NM_018051.5(DYNC2I1):c.2961C>T (p.Ser987=)
NM_018051.5(DYNC2I1):c.3003-13C>T
NM_018051.5(DYNC2I1):c.3006G>A (p.Leu1002=)
NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)
NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)
NM_018051.5(DYNC2I1):c.3078G>A (p.Ala1026=)
NM_018051.5(DYNC2I1):c.3088A>G (p.Ile1030Val)
NM_018051.5(DYNC2I1):c.3105G>C (p.Leu1035=) rs1585268610
NM_018051.5(DYNC2I1):c.3147G>A (p.Arg1049=)
NM_018051.5(DYNC2I1):c.351A>G (p.Arg117=)
NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)
NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.471G>C (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.490+11G>A rs530105342
NM_018051.5(DYNC2I1):c.490+11G>T rs530105342
NM_018051.5(DYNC2I1):c.491-10C>T
NM_018051.5(DYNC2I1):c.491-17T>C
NM_018051.5(DYNC2I1):c.573+14G>A
NM_018051.5(DYNC2I1):c.574-11G>A
NM_018051.5(DYNC2I1):c.574-9G>A
NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)
NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)
NM_018051.5(DYNC2I1):c.672C>T (p.Asp224=)
NM_018051.5(DYNC2I1):c.69+15G>A
NM_018051.5(DYNC2I1):c.69+7A>G rs1554441632
NM_018051.5(DYNC2I1):c.70-20C>A
NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)
NM_018051.5(DYNC2I1):c.879+10C>G
NM_018051.5(DYNC2I1):c.879+11_879+19del
NM_018051.5(DYNC2I1):c.879+17T>C
NM_018051.5(DYNC2I1):c.879+19C>T
NM_018051.5(DYNC2I1):c.879+20G>A
NM_018051.5(DYNC2I1):c.900A>G (p.Arg300=)
NM_018051.5(DYNC2I1):c.902G>T (p.Gly301Val) rs140596100
NM_018051.5(DYNC2I1):c.936-16T>G
NM_018051.5(DYNC2I1):c.990+15A>G
NM_018051.5(DYNC2I1):c.991-13C>A rs2129482378
NM_018076.5(ODAD2):c.1029T>C (p.Ile343=)
NM_018076.5(ODAD2):c.1125C>A (p.Thr375=)
NM_018076.5(ODAD2):c.1142+7A>T
NM_018076.5(ODAD2):c.1254G>A (p.Lys418=)
NM_018076.5(ODAD2):c.126C>A (p.Ile42=) rs1394621534
NM_018076.5(ODAD2):c.1278C>T (p.Ser426=) rs1060504993
NM_018076.5(ODAD2):c.1320T>C (p.Arg440=)
NM_018076.5(ODAD2):c.1344A>C (p.Pro448=)
NM_018076.5(ODAD2):c.1347A>G (p.Ser449=)
NM_018076.5(ODAD2):c.1386+19A>G
NM_018076.5(ODAD2):c.1387-10A>G
NM_018076.5(ODAD2):c.1387-15A>G
NM_018076.5(ODAD2):c.1387-17G>C
NM_018076.5(ODAD2):c.1387-4G>A
NM_018076.5(ODAD2):c.138T>C (p.Pro46=)
NM_018076.5(ODAD2):c.1533+10T>A rs2132635163
NM_018076.5(ODAD2):c.1533+12T>C
NM_018076.5(ODAD2):c.1552C>T (p.Leu518=)
NM_018076.5(ODAD2):c.1614A>G (p.Pro538=) rs920398574
NM_018076.5(ODAD2):c.1632T>G (p.Leu544=)
NM_018076.5(ODAD2):c.1674T>C (p.Thr558=)
NM_018076.5(ODAD2):c.1713G>A (p.Val571=)
NM_018076.5(ODAD2):c.1743+10C>T
NM_018076.5(ODAD2):c.1744-10A>G
NM_018076.5(ODAD2):c.1744-19G>A
NM_018076.5(ODAD2):c.1752A>C (p.Leu584=)
NM_018076.5(ODAD2):c.1752A>G (p.Leu584=)
NM_018076.5(ODAD2):c.1797G>A (p.Leu599=) rs926907910
NM_018076.5(ODAD2):c.1812C>T (p.Asp604=)
NM_018076.5(ODAD2):c.1906C>T (p.Leu636=)
NM_018076.5(ODAD2):c.1908G>A (p.Leu636=)
NM_018076.5(ODAD2):c.1929T>A (p.Thr643=)
NM_018076.5(ODAD2):c.1941C>T (p.Asn647=)
NM_018076.5(ODAD2):c.1986+10C>G
NM_018076.5(ODAD2):c.1986+11C>T
NM_018076.5(ODAD2):c.1986+13G>T
NM_018076.5(ODAD2):c.1987-19T>A
NM_018076.5(ODAD2):c.1987-19T>C rs368642943
NM_018076.5(ODAD2):c.1987-4C>T rs1418326493
NM_018076.5(ODAD2):c.1997G>C (p.Arg666Pro) rs35472668
NM_018076.5(ODAD2):c.2031C>T (p.Asn677=) rs1022012517
NM_018076.5(ODAD2):c.2097+20C>T rs764297273
NM_018076.5(ODAD2):c.2097+8G>A
NM_018076.5(ODAD2):c.2098-7C>G
NM_018076.5(ODAD2):c.2098-7C>T
NM_018076.5(ODAD2):c.2115A>G (p.Glu705=)
NM_018076.5(ODAD2):c.2130T>G (p.Val710=)
NM_018076.5(ODAD2):c.2139C>T (p.His713=)
NM_018076.5(ODAD2):c.2154C>T (p.Pro718=)
NM_018076.5(ODAD2):c.2190G>A (p.Glu730=)
NM_018076.5(ODAD2):c.21A>G (p.Lys7=) rs2133232560
NM_018076.5(ODAD2):c.2208A>G (p.Thr736=)
NM_018076.5(ODAD2):c.224+11T>C
NM_018076.5(ODAD2):c.224+8A>G
NM_018076.5(ODAD2):c.225-16T>C
NM_018076.5(ODAD2):c.2252+11G>T
NM_018076.5(ODAD2):c.2252+18A>G rs764886603
NM_018076.5(ODAD2):c.2252+19T>A rs2134099850
NM_018076.5(ODAD2):c.2253-12T>C
NM_018076.5(ODAD2):c.2253-13A>T
NM_018076.5(ODAD2):c.2283G>A (p.Leu761=)
NM_018076.5(ODAD2):c.22T>C (p.Leu8=)
NM_018076.5(ODAD2):c.2304G>A (p.Gln768=)
NM_018076.5(ODAD2):c.2306C>A (p.Pro769His)
NM_018076.5(ODAD2):c.2310A>G (p.Glu770=)
NM_018076.5(ODAD2):c.2460A>T (p.Ala820=)
NM_018076.5(ODAD2):c.2496-15T>C
NM_018076.5(ODAD2):c.2496-5G>A rs1012390138
NM_018076.5(ODAD2):c.2571C>T (p.Ser857=)
NM_018076.5(ODAD2):c.2595C>T (p.Cys865=)
NM_018076.5(ODAD2):c.2598C>A (p.Ile866=)
NM_018076.5(ODAD2):c.2610+19T>C
NM_018076.5(ODAD2):c.2610+8C>G rs372647560
NM_018076.5(ODAD2):c.2610+8C>T
NM_018076.5(ODAD2):c.2634C>T (p.Ser878=)
NM_018076.5(ODAD2):c.2799+10A>G rs1840112898
NM_018076.5(ODAD2):c.2799+8A>G
NM_018076.5(ODAD2):c.27G>T (p.Thr9=)
NM_018076.5(ODAD2):c.2800-6G>T
NM_018076.5(ODAD2):c.2877C>T (p.Phe959=)
NM_018076.5(ODAD2):c.2919A>G (p.Lys973=)
NM_018076.5(ODAD2):c.2946G>A (p.Ala982=)
NM_018076.5(ODAD2):c.2946G>T (p.Ala982=) rs371338930
NM_018076.5(ODAD2):c.2961G>A (p.Leu987=)
NM_018076.5(ODAD2):c.3018A>G (p.Val1006=)
NM_018076.5(ODAD2):c.3022-21_3022-19del
NM_018076.5(ODAD2):c.3024T>A (p.Leu1008=) rs2132709711
NM_018076.5(ODAD2):c.3030G>A (p.Leu1010=) rs866397170
NM_018076.5(ODAD2):c.3069T>C (p.Ala1023=) rs546928912
NM_018076.5(ODAD2):c.3108T>C (p.Leu1036=)
NM_018076.5(ODAD2):c.3129C>T (p.Tyr1043=)
NM_018076.5(ODAD2):c.382+13C>T
NM_018076.5(ODAD2):c.382+7T>C
NM_018076.5(ODAD2):c.383-14T>C
NM_018076.5(ODAD2):c.456T>C (p.Asn152=)
NM_018076.5(ODAD2):c.480T>C (p.Asp160=)
NM_018076.5(ODAD2):c.534G>A (p.Leu178=)
NM_018076.5(ODAD2):c.575+8T>G
NM_018076.5(ODAD2):c.63C>T (p.Leu21=)
NM_018076.5(ODAD2):c.642A>G (p.Lys214=)
NM_018076.5(ODAD2):c.682+18G>A
NM_018076.5(ODAD2):c.683-18C>G
NM_018076.5(ODAD2):c.690A>G (p.Glu230=)
NM_018076.5(ODAD2):c.699T>C (p.Asn233=)
NM_018076.5(ODAD2):c.6T>G (p.Gly2=) rs2133232732
NM_018076.5(ODAD2):c.731G>A (p.Arg244His)
NM_018076.5(ODAD2):c.780G>A (p.Leu260=) rs2133123588
NM_018076.5(ODAD2):c.798A>G (p.Ala266=)
NM_018076.5(ODAD2):c.807A>G (p.Val269=)
NM_018076.5(ODAD2):c.819+8A>C
NM_018076.5(ODAD2):c.820-8T>G
NM_018076.5(ODAD2):c.843C>T (p.Asp281=)
NM_018076.5(ODAD2):c.867A>T (p.Ser289=)
NM_018076.5(ODAD2):c.882T>C (p.Leu294=)
NM_018076.5(ODAD2):c.975T>C (p.Asp325=)
NM_018076.5(ODAD2):c.978G>A (p.Gln326=) rs769554961
NM_018139.3(DNAAF2):c.1044G>A (p.Val348=)
NM_018139.3(DNAAF2):c.1047G>A (p.Val349=)
NM_018139.3(DNAAF2):c.1053G>A (p.Pro351=)
NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=)
NM_018139.3(DNAAF2):c.1068G>A (p.Glu356=)
NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=)
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
NM_018139.3(DNAAF2):c.1131C>T (p.Gly377=) rs1883250866
NM_018139.3(DNAAF2):c.1176G>A (p.Arg392=)
NM_018139.3(DNAAF2):c.1194A>C (p.Gly398=)
NM_018139.3(DNAAF2):c.1197C>T (p.Gly399=) rs746701668
NM_018139.3(DNAAF2):c.1218G>A (p.Gly406=)
NM_018139.3(DNAAF2):c.1230C>T (p.Ser410=) rs1362062295
NM_018139.3(DNAAF2):c.1239C>T (p.Thr413=)
NM_018139.3(DNAAF2):c.12G>A (p.Ala4=)
NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=)
NM_018139.3(DNAAF2):c.1344G>A (p.Pro448=)
NM_018139.3(DNAAF2):c.1386T>A (p.Pro462=)
NM_018139.3(DNAAF2):c.1389T>C (p.Gly463=)
NM_018139.3(DNAAF2):c.1398C>T (p.Gly466=)
NM_018139.3(DNAAF2):c.1416C>T (p.Ser472=) rs1420073386
NM_018139.3(DNAAF2):c.1443G>A (p.Ala481=)
NM_018139.3(DNAAF2):c.1443G>C (p.Ala481=)
NM_018139.3(DNAAF2):c.1443G>T (p.Ala481=)
NM_018139.3(DNAAF2):c.144C>T (p.Asn48=) rs116185352
NM_018139.3(DNAAF2):c.1458G>A (p.Ala486=)
NM_018139.3(DNAAF2):c.1506C>T (p.Gly502=)
NM_018139.3(DNAAF2):c.1545C>G (p.Thr515=)
NM_018139.3(DNAAF2):c.1554G>A (p.Gly518=)
NM_018139.3(DNAAF2):c.1572G>C (p.Pro524=)
NM_018139.3(DNAAF2):c.1576C>T (p.Leu526=) rs2139580929
NM_018139.3(DNAAF2):c.1582A>C (p.Asn528His)
NM_018139.3(DNAAF2):c.1587G>A (p.Gln529=)
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) rs374369407
NM_018139.3(DNAAF2):c.159G>A (p.Glu53=) rs2139584413
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)
NM_018139.3(DNAAF2):c.1614T>C (p.Ile538=)
NM_018139.3(DNAAF2):c.1635G>T (p.Pro545=)
NM_018139.3(DNAAF2):c.1638A>G (p.Gln546=)
NM_018139.3(DNAAF2):c.1689A>C (p.Ala563=)
NM_018139.3(DNAAF2):c.1707C>A (p.Ser569=)
NM_018139.3(DNAAF2):c.1779T>C (p.Asn593=)
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=)
NM_018139.3(DNAAF2):c.1812C>T (p.Ser604=)
NM_018139.3(DNAAF2):c.1839T>C (p.Tyr613=)
NM_018139.3(DNAAF2):c.1863+19G>A
NM_018139.3(DNAAF2):c.1864-13C>G rs1198098002
NM_018139.3(DNAAF2):c.1864-9_1864-8del rs755892796
NM_018139.3(DNAAF2):c.186G>A (p.Glu62=)
NM_018139.3(DNAAF2):c.1911G>A (p.Glu637=)
NM_018139.3(DNAAF2):c.1914C>T (p.Val638=)
NM_018139.3(DNAAF2):c.192G>A (p.Gly64=)
NM_018139.3(DNAAF2):c.1944C>G (p.Ser648=)
NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)
NM_018139.3(DNAAF2):c.2007+10T>C
NM_018139.3(DNAAF2):c.2008-12C>G
NM_018139.3(DNAAF2):c.2008-19G>A
NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)
NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)
NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)
NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=) rs779403171
NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)
NM_018139.3(DNAAF2):c.228T>C (p.His76=)
NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=)
NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)
NM_018139.3(DNAAF2):c.237C>T (p.Arg79=)
NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=)
NM_018139.3(DNAAF2):c.2460T>C (p.His820=) rs909774302
NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)
NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)
NM_018139.3(DNAAF2):c.300G>A (p.Ala100=) rs1566513551
NM_018139.3(DNAAF2):c.306C>T (p.Ser102=) rs1555328112
NM_018139.3(DNAAF2):c.309C>T (p.Ser103=)
NM_018139.3(DNAAF2):c.315C>G (p.Pro105=)
NM_018139.3(DNAAF2):c.321C>G (p.Ser107=)
NM_018139.3(DNAAF2):c.327C>G (p.Gly109=) rs914228343
NM_018139.3(DNAAF2):c.363G>C (p.Leu121=) rs533083141
NM_018139.3(DNAAF2):c.381C>T (p.Pro127=)
NM_018139.3(DNAAF2):c.384C>T (p.Gly128=)
NM_018139.3(DNAAF2):c.396G>A (p.Ala132=) rs1594609626
NM_018139.3(DNAAF2):c.396G>C (p.Ala132=)
NM_018139.3(DNAAF2):c.465G>A (p.Arg155=)
NM_018139.3(DNAAF2):c.480C>T (p.Phe160=)
NM_018139.3(DNAAF2):c.501G>A (p.Thr167=) rs1179653801
NM_018139.3(DNAAF2):c.505C>T (p.Leu169=)
NM_018139.3(DNAAF2):c.549G>A (p.Arg183=)
NM_018139.3(DNAAF2):c.582G>A (p.Gly194=) rs532979117
NM_018139.3(DNAAF2):c.582G>C (p.Gly194=) rs532979117
NM_018139.3(DNAAF2):c.588A>T (p.Pro196=)
NM_018139.3(DNAAF2):c.600G>A (p.Val200=)
NM_018139.3(DNAAF2):c.609G>T (p.Thr203=) rs1446340789
NM_018139.3(DNAAF2):c.618C>A (p.Pro206=) rs759493468
NM_018139.3(DNAAF2):c.645G>A (p.Gly215=)
NM_018139.3(DNAAF2):c.651G>C (p.Pro217=) rs747603885
NM_018139.3(DNAAF2):c.660T>C (p.Pro220=) rs2139583283
NM_018139.3(DNAAF2):c.675C>T (p.Pro225=)
NM_018139.3(DNAAF2):c.678C>T (p.Tyr226=)
NM_018139.3(DNAAF2):c.681T>A (p.Pro227=)
NM_018139.3(DNAAF2):c.705G>A (p.Gly235=)
NM_018139.3(DNAAF2):c.732G>A (p.Ala244=)
NM_018139.3(DNAAF2):c.78C>G (p.Ala26=) rs7156297
NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly)
NM_018139.3(DNAAF2):c.810C>T (p.Cys270=)
NM_018139.3(DNAAF2):c.834C>G (p.Pro278=)
NM_018139.3(DNAAF2):c.882G>C (p.Ser294=)
NM_018139.3(DNAAF2):c.882G>T (p.Ser294=)
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
NM_018719.5(CDCA7L):c.*1320G>A
NM_018719.5(CDCA7L):c.*1321G>A
NM_018719.5(CDCA7L):c.*1322C>A
NM_018719.5(CDCA7L):c.*1328C>G
NM_018719.5(CDCA7L):c.*1328CA[1]
NM_018719.5(CDCA7L):c.*1330C>T
NM_018719.5(CDCA7L):c.*1333_*1334del
NM_018719.5(CDCA7L):c.*1334G>A rs141951506
NM_018719.5(CDCA7L):c.*1334G>C
NM_018719.5(CDCA7L):c.*1334G>T
NM_018719.5(CDCA7L):c.*1335G>A
NM_018719.5(CDCA7L):c.*1335G>T
NM_018719.5(CDCA7L):c.*879G>C rs62445901
NM_019892.6(INPP5E):c.1011G>A (p.Gly337=)
NM_019892.6(INPP5E):c.1017G>A (p.Gln339=) rs2131610330
NM_019892.6(INPP5E):c.1034+16G>A
NM_019892.6(INPP5E):c.1034+7C>T
NM_019892.6(INPP5E):c.1035-18G>A
NM_019892.6(INPP5E):c.1035-19C>T
NM_019892.6(INPP5E):c.1035-8_1035-6del rs1226334444
NM_019892.6(INPP5E):c.1053T>C (p.Arg351=)
NM_019892.6(INPP5E):c.1062G>A (p.Glu354=) rs2131609357
NM_019892.6(INPP5E):c.1065G>A (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1065G>C (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1071C>A (p.Gly357=) rs1264559701
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1074G>T (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1080T>C (p.Tyr360=)
NM_019892.6(INPP5E):c.1084C>T (p.Leu362=)
NM_019892.6(INPP5E):c.108G>C (p.Ala36=)
NM_019892.6(INPP5E):c.1122G>A (p.Ser374=)
NM_019892.6(INPP5E):c.1146C>A (p.Ile382=)
NM_019892.6(INPP5E):c.114C>G (p.Ser38=) rs2131620129
NM_019892.6(INPP5E):c.1155C>T (p.Cys385=)
NM_019892.6(INPP5E):c.1159+7G>A
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGTGGCTGGAGGGGTGGGT rs1554793113
NM_019892.6(INPP5E):c.1159+8C>A
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1159+9_1159+11del
NM_019892.6(INPP5E):c.1160-16G>A
NM_019892.6(INPP5E):c.1179G>C (p.Val393=)
NM_019892.6(INPP5E):c.1206G>A (p.Lys402=)
NM_019892.6(INPP5E):c.1215G>A (p.Gly405=)
NM_019892.6(INPP5E):c.1221G>A (p.Leu407=)
NM_019892.6(INPP5E):c.1257C>T (p.Leu419=)
NM_019892.6(INPP5E):c.1263C>T (p.Ile421=)
NM_019892.6(INPP5E):c.1279+13G>A
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1279+18C>T
NM_019892.6(INPP5E):c.1279+19G>C
NM_019892.6(INPP5E):c.1280-4A>G
NM_019892.6(INPP5E):c.1280-8T>A
NM_019892.6(INPP5E):c.1281A>G (p.Ser427=) rs2131608043
NM_019892.6(INPP5E):c.129G>C (p.Pro43=)
NM_019892.6(INPP5E):c.12G>A (p.Lys4=)
NM_019892.6(INPP5E):c.1350A>G (p.Arg450=)
NM_019892.6(INPP5E):c.1388-4G>A rs754727297
NM_019892.6(INPP5E):c.1388-4G>T rs754727297
NM_019892.6(INPP5E):c.1401C>T (p.Thr467=) rs1835718113
NM_019892.6(INPP5E):c.1428A>G (p.Gly476=)
NM_019892.6(INPP5E):c.1473C>T (p.Ala491=)
NM_019892.6(INPP5E):c.147G>A (p.Ala49=) rs2131620018
NM_019892.6(INPP5E):c.1509G>A (p.Ala503=)
NM_019892.6(INPP5E):c.1509G>C (p.Ala503=) rs770801327
NM_019892.6(INPP5E):c.1543C>A (p.Arg515=) rs13297509
NM_019892.6(INPP5E):c.1549+12G>C rs764753548
NM_019892.6(INPP5E):c.1549+15G>A
NM_019892.6(INPP5E):c.1549+15G>T
NM_019892.6(INPP5E):c.1549+17_1549+141del rs2131606546
NM_019892.6(INPP5E):c.1549+17_1550-149del rs2131606081
NM_019892.6(INPP5E):c.1550-13C>T
NM_019892.6(INPP5E):c.1578G>A (p.Pro526=)
NM_019892.6(INPP5E):c.1581C>T (p.Asp527=)
NM_019892.6(INPP5E):c.1587C>T (p.His529=)
NM_019892.6(INPP5E):c.1590C>T (p.Phe530=)
NM_019892.6(INPP5E):c.1602C>T (p.Tyr534=)
NM_019892.6(INPP5E):c.1605G>A (p.Lys535=)
NM_019892.6(INPP5E):c.1629C>T (p.Tyr543=) rs753398503
NM_019892.6(INPP5E):c.1635C>T (p.Ser545=)
NM_019892.6(INPP5E):c.1653G>A (p.Thr551=)
NM_019892.6(INPP5E):c.1665+15C>G
NM_019892.6(INPP5E):c.1665+16C>G
NM_019892.6(INPP5E):c.1665+16C>T
NM_019892.6(INPP5E):c.1665+7C>G rs2131605609
NM_019892.6(INPP5E):c.1666-19C>A rs374671289
NM_019892.6(INPP5E):c.1671C>A (p.Arg557=) rs776792436
NM_019892.6(INPP5E):c.1689C>A (p.Arg563=) rs2131604929
NM_019892.6(INPP5E):c.1731C>T (p.Pro577=)
NM_019892.6(INPP5E):c.1743G>C (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1755C>A (p.Arg585=) rs2131604784
NM_019892.6(INPP5E):c.1767C>T (p.Gly589=) rs1835669405
NM_019892.6(INPP5E):c.1770C>G (p.Leu590=)
NM_019892.6(INPP5E):c.1802+10C>T
NM_019892.6(INPP5E):c.1803-17C>T
NM_019892.6(INPP5E):c.1803-19G>A
NM_019892.6(INPP5E):c.1803-19G>T
NM_019892.6(INPP5E):c.1803-40_1803-7dup rs1329220171
NM_019892.6(INPP5E):c.1857A>G (p.Lys619=) rs1200807419
NM_019892.6(INPP5E):c.1866T>A (p.Ile622=)
NM_019892.6(INPP5E):c.1869G>A (p.Ser623=)
NM_019892.6(INPP5E):c.1887G>A (p.Gln629=)
NM_019892.6(INPP5E):c.1893A>C (p.Ala631=) rs1835654114
NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)
NM_019892.6(INPP5E):c.189G>A (p.Pro63=)
NM_019892.6(INPP5E):c.192A>C (p.Pro64=)
NM_019892.6(INPP5E):c.210C>T (p.Ile70=) rs1444322599
NM_019892.6(INPP5E):c.213C>T (p.Ala71=)
NM_019892.6(INPP5E):c.225C>G (p.Pro75=) rs767451997
NM_019892.6(INPP5E):c.255C>T (p.Ser85=) rs776746807
NM_019892.6(INPP5E):c.280A>C (p.Arg94=) rs1835923579
NM_019892.6(INPP5E):c.321T>C (p.Asn107=)
NM_019892.6(INPP5E):c.324G>A (p.Gly108=)
NM_019892.6(INPP5E):c.354C>T (p.Ser118=)
NM_019892.6(INPP5E):c.372C>G (p.Pro124=)
NM_019892.6(INPP5E):c.408C>T (p.Ser136=)
NM_019892.6(INPP5E):c.462G>A (p.Pro154=)
NM_019892.6(INPP5E):c.465C>T (p.Ser155=)
NM_019892.6(INPP5E):c.546G>A (p.Ser182=)
NM_019892.6(INPP5E):c.591G>A (p.Leu197=) rs2131618177
NM_019892.6(INPP5E):c.597G>A (p.Leu199=)
NM_019892.6(INPP5E):c.616C>T (p.Leu206=)
NM_019892.6(INPP5E):c.624A>C (p.Thr208=)
NM_019892.6(INPP5E):c.624A>G (p.Thr208=)
NM_019892.6(INPP5E):c.627A>G (p.Ala209=)
NM_019892.6(INPP5E):c.669G>A (p.Ala223=)
NM_019892.6(INPP5E):c.696C>T (p.Ser232=)
NM_019892.6(INPP5E):c.6G>C (p.Pro2=) rs761850172
NM_019892.6(INPP5E):c.726C>G (p.Pro242=) rs766781844
NM_019892.6(INPP5E):c.729G>A (p.Leu243=)
NM_019892.6(INPP5E):c.777C>T (p.Leu259=)
NM_019892.6(INPP5E):c.783G>A (p.Ala261=)
NM_019892.6(INPP5E):c.807C>T (p.Arg269=)
NM_019892.6(INPP5E):c.812+19G>A
NM_019892.6(INPP5E):c.813-16G>A rs2131611492
NM_019892.6(INPP5E):c.813-7G>A
NM_019892.6(INPP5E):c.813-9C>T rs771055995
NM_019892.6(INPP5E):c.825G>A (p.Glu275=) rs2131611437
NM_019892.6(INPP5E):c.885A>G (p.Pro295=) rs2131611346
NM_019892.6(INPP5E):c.888C>T (p.Asp296=)
NM_019892.6(INPP5E):c.912C>T (p.Ala304=) rs2131611280
NM_019892.6(INPP5E):c.915C>T (p.Thr305=)
NM_019892.6(INPP5E):c.927G>A (p.Gln309=)
NM_019892.6(INPP5E):c.936+11G>A
NM_019892.6(INPP5E):c.936+13G>T
NM_019892.6(INPP5E):c.936+16_936+25del
NM_019892.6(INPP5E):c.937-11C>T
NM_019892.6(INPP5E):c.937-15G>A rs1297434272
NM_019892.6(INPP5E):c.939G>A (p.Glu313=)
NM_019892.6(INPP5E):c.966G>A (p.Leu322=) rs2131610464
NM_019892.6(INPP5E):c.975C>G (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.975C>T (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.999G>C (p.Leu333=)
NM_020347.4(LZTFL1):c.128+13del rs750701550
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020779.4(WDR35):c.1008+10A>C rs2103448400
NM_020779.4(WDR35):c.1008+13A>G
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) rs202056608
NM_020779.4(WDR35):c.1194+10T>C rs936831337
NM_020779.4(WDR35):c.1194+11C>T
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
NM_020779.4(WDR35):c.1400+17A>G
NM_020779.4(WDR35):c.1401-11C>A
NM_020779.4(WDR35):c.1401-11C>G
NM_020779.4(WDR35):c.143-7G>A
NM_020779.4(WDR35):c.1471-19A>G rs1671119977
NM_020779.4(WDR35):c.147T>C (p.Asp49=) rs1672416502
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
NM_020779.4(WDR35):c.1524+11C>T
NM_020779.4(WDR35):c.1525-15A>C rs2103417096
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
NM_020779.4(WDR35):c.1635-19C>T
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) rs773559585
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
NM_020779.4(WDR35):c.1846-5T>C rs2103410724
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.1950T>C (p.Asp650=) rs2103406174
NM_020779.4(WDR35):c.2013A>C (p.Gly671=) rs2103406014
NM_020779.4(WDR35):c.2063+7A>T
NM_020779.4(WDR35):c.2154G>A (p.Lys718=) rs2103405404
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
NM_020779.4(WDR35):c.2267+15C>T rs1374046467
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
NM_020779.4(WDR35):c.2446C>A (p.Arg816=) rs374027943
NM_020779.4(WDR35):c.25-17T>C
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
NM_020779.4(WDR35):c.2547+13A>C
NM_020779.4(WDR35):c.2547+9T>C
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
NM_020779.4(WDR35):c.2622A>C (p.Pro874=) rs766138190
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
NM_020779.4(WDR35):c.2658+14C>T
NM_020779.4(WDR35):c.2659-13A>T
NM_020779.4(WDR35):c.2760T>A (p.Leu920=) rs1405610639
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
NM_020779.4(WDR35):c.2913T>C (p.His971=) rs561223092
NM_020779.4(WDR35):c.2964+13G>A rs557213514
NM_020779.4(WDR35):c.2964+14T>A
NM_020779.4(WDR35):c.2965-20T>C
NM_020779.4(WDR35):c.2965-5C>T
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) rs2103396034
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
NM_020779.4(WDR35):c.30C>T (p.Ser10=) rs1672670437
NM_020779.4(WDR35):c.3121+10T>C
NM_020779.4(WDR35):c.3122-16G>C
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
NM_020779.4(WDR35):c.3363-10C>T
NM_020779.4(WDR35):c.3363-11C>A rs2103377636
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
NM_020779.4(WDR35):c.436+18C>T
NM_020779.4(WDR35):c.437-15_437-13del
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.570+20A>G
NM_020779.4(WDR35):c.570+7_570+10del
NM_020779.4(WDR35):c.571-16A>G
NM_020779.4(WDR35):c.571-3del
NM_020779.4(WDR35):c.732C>T (p.Asp244=)
NM_020779.4(WDR35):c.81G>A (p.Gly27=) rs1303835293
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
NM_020779.4(WDR35):c.882+10T>A
NM_020779.4(WDR35):c.883-12T>G rs1393592663
NM_020779.4(WDR35):c.883-14A>T
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
NM_020779.4(WDR35):c.946C>T (p.Leu316=) rs1671968631
NM_020800.3(IFT80):c.1038C>T (p.His346=)
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
NM_020800.3(IFT80):c.1152-13C>A
NM_020800.3(IFT80):c.1152-7T>G
NM_020800.3(IFT80):c.1167A>G (p.Val389=) rs2108267310
NM_020800.3(IFT80):c.1200A>G (p.Glu400=) rs2108267274
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
NM_020800.3(IFT80):c.1224A>G (p.Lys408=) rs2108267227
NM_020800.3(IFT80):c.1281T>C (p.Asp427=) rs1716376329
NM_020800.3(IFT80):c.12G>A (p.Lys4=)
NM_020800.3(IFT80):c.1315+10_1315+17dup
NM_020800.3(IFT80):c.1315+14T>C
NM_020800.3(IFT80):c.1315+17A>G rs971761468
NM_020800.3(IFT80):c.1320C>T (p.Ile440=) rs746090893
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1380+10A>G rs1256481351
NM_020800.3(IFT80):c.1380+12T>A
NM_020800.3(IFT80):c.1380+15C>T
NM_020800.3(IFT80):c.1381-20A>C
NM_020800.3(IFT80):c.1381-9A>C
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
NM_020800.3(IFT80):c.1516+18C>T rs1714757221
NM_020800.3(IFT80):c.1517-10T>C
NM_020800.3(IFT80):c.1517-11T>C
NM_020800.3(IFT80):c.1517-9_1517-7del rs2108231566
NM_020800.3(IFT80):c.1635G>A (p.Leu545=)
NM_020800.3(IFT80):c.1665-11T>C rs2108229213
NM_020800.3(IFT80):c.1665-12T>A rs908547988
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1738C>T (p.Leu580=) rs750185428
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
NM_020800.3(IFT80):c.1797A>G (p.Ser599=) rs2108228989
NM_020800.3(IFT80):c.1815G>A (p.Val605=)
NM_020800.3(IFT80):c.1818A>G (p.Arg606=)
NM_020800.3(IFT80):c.1836+20C>T
NM_020800.3(IFT80):c.1836+8A>G
NM_020800.3(IFT80):c.1837-13T>C
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
NM_020800.3(IFT80):c.189C>T (p.His63=)
NM_020800.3(IFT80):c.1926+11A>G rs531201934
NM_020800.3(IFT80):c.1926+11A>T
NM_020800.3(IFT80):c.1926+13_1926+14inv
NM_020800.3(IFT80):c.2025T>G (p.Ala675=)
NM_020800.3(IFT80):c.2040T>A (p.Leu680=) rs2108225990
NM_020800.3(IFT80):c.2043G>A (p.Gln681=)
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe)
NM_020800.3(IFT80):c.2061A>G (p.Gln687=)
NM_020800.3(IFT80):c.2073C>A (p.Ile691=) rs1441275758
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
NM_020800.3(IFT80):c.2099+19A>C rs539564457
NM_020800.3(IFT80):c.2100-13T>C
NM_020800.3(IFT80):c.2100-17T>C
NM_020800.3(IFT80):c.2103A>G (p.Ala701=)
NM_020800.3(IFT80):c.2223+11C>G
NM_020800.3(IFT80):c.2223+15A>G
NM_020800.3(IFT80):c.2223+20G>A rs115849906
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-13_2224-10del rs58665245
NM_020800.3(IFT80):c.2224-18T>C rs1300785034
NM_020800.3(IFT80):c.2224-20_2224-17del
NM_020800.3(IFT80):c.2224-20dup rs397969922
NM_020800.3(IFT80):c.2224-7A>G
NM_020800.3(IFT80):c.2229A>G (p.Gln743=)
NM_020800.3(IFT80):c.2244A>G (p.Lys748=) rs769905264
NM_020800.3(IFT80):c.2292A>G (p.Ser764=) rs376683399
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
NM_020800.3(IFT80):c.24A>G (p.Leu8=)
NM_020800.3(IFT80):c.259+16_259+18del rs2108404186
NM_020800.3(IFT80):c.260-14G>A
NM_020800.3(IFT80):c.260-4T>G
NM_020800.3(IFT80):c.260-8T>G
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_020800.3(IFT80):c.351A>G (p.Glu117=) rs2108396942
NM_020800.3(IFT80):c.360A>G (p.Ala120=) rs2108396922
NM_020800.3(IFT80):c.37+15C>T rs1483835849
NM_020800.3(IFT80):c.37+16T>A
NM_020800.3(IFT80):c.370+20G>A
NM_020800.3(IFT80):c.38-17C>T
NM_020800.3(IFT80):c.38-9dup
NM_020800.3(IFT80):c.387A>G (p.Gln129=)
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
NM_020800.3(IFT80):c.439+12A>C
NM_020800.3(IFT80):c.439+14T>C
NM_020800.3(IFT80):c.440-17C>A
NM_020800.3(IFT80):c.440-18T>C
NM_020800.3(IFT80):c.440-22_440-18del
NM_020800.3(IFT80):c.440-4A>G
NM_020800.3(IFT80):c.447A>G (p.Pro149=) rs2108377944
NM_020800.3(IFT80):c.462G>C (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.483G>A (p.Lys161=) rs886058133
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.549+7C>G
NM_020800.3(IFT80):c.550-14_550-12del
NM_020800.3(IFT80):c.550-18del
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.60G>T (p.Val20=) rs201088893
NM_020800.3(IFT80):c.639+10G>A rs1027164775
NM_020800.3(IFT80):c.639+18T>C
NM_020800.3(IFT80):c.639+9T>A
NM_020800.3(IFT80):c.639+9T>C rs968428120
NM_020800.3(IFT80):c.640-11T>C
NM_020800.3(IFT80):c.654C>T (p.Tyr218=)
NM_020800.3(IFT80):c.657C>T (p.Gly219=) rs1195919168
NM_020800.3(IFT80):c.663A>G (p.Pro221=)
NM_020800.3(IFT80):c.727T>C (p.Leu243=) rs2108360164
NM_020800.3(IFT80):c.744G>A (p.Ser248=) rs779731718
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
NM_020800.3(IFT80):c.759C>T (p.Arg253=) rs2108360089
NM_020800.3(IFT80):c.777+16G>A rs1462707815
NM_020800.3(IFT80):c.778-16G>T
NM_020800.3(IFT80):c.778-17T>G
NM_020800.3(IFT80):c.778-4C>T rs760577994
NM_020800.3(IFT80):c.778-7C>T rs1269497069
NM_020800.3(IFT80):c.810C>A (p.Gly270=) rs752091335
NM_020800.3(IFT80):c.855T>C (p.Ala285=)
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
NM_020800.3(IFT80):c.930A>G (p.Val310=)
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
NM_020800.3(IFT80):c.957+17A>T
NM_020800.3(IFT80):c.957+20T>C
NM_020800.3(IFT80):c.957+8T>C
NM_020800.3(IFT80):c.958-15T>C
NM_020800.3(IFT80):c.958-8T>A
NM_020800.3(IFT80):c.999C>T (p.Phe333=) rs765112290
NM_021147.5(CCNO):c.1017C>T (p.Ile339=)
NM_021147.5(CCNO):c.111C>T (p.Leu37=)
NM_021147.5(CCNO):c.135C>T (p.Pro45=)
NM_021147.5(CCNO):c.153C>G (p.Leu51=)
NM_021147.5(CCNO):c.156G>T (p.Pro52=)
NM_021147.5(CCNO):c.18C>A (p.Pro6=)
NM_021147.5(CCNO):c.231G>A (p.Ala77=)
NM_021147.5(CCNO):c.247C>T (p.Leu83=)
NM_021147.5(CCNO):c.285A>G (p.Leu95=)
NM_021147.5(CCNO):c.327C>A (p.Arg109=)
NM_021147.5(CCNO):c.333G>T (p.Ala111=)
NM_021147.5(CCNO):c.342C>T (p.Ser114=) rs2111721591
NM_021147.5(CCNO):c.36C>A (p.Pro12=) rs777965356
NM_021147.5(CCNO):c.382-14C>A
NM_021147.5(CCNO):c.382-14C>T rs72749883
NM_021147.5(CCNO):c.382-15C>G
NM_021147.5(CCNO):c.382-4G>A rs2111718851
NM_021147.5(CCNO):c.382-8C>T
NM_021147.5(CCNO):c.426G>T (p.Pro142=) rs1580411138
NM_021147.5(CCNO):c.435C>T (p.Arg145=) rs1554020005
NM_021147.5(CCNO):c.453C>T (p.Phe151=)
NM_021147.5(CCNO):c.460C>T (p.Leu154=)
NM_021147.5(CCNO):c.462G>A (p.Leu154=)
NM_021147.5(CCNO):c.525C>T (p.Phe175=) rs1580410902
NM_021147.5(CCNO):c.568-16del
NM_021147.5(CCNO):c.630G>T (p.Arg210=)
NM_021147.5(CCNO):c.660G>T (p.Val220=)
NM_021147.5(CCNO):c.828C>T (p.Thr276=)
NM_021147.5(CCNO):c.837C>A (p.Ser279=) rs569924543
NM_021147.5(CCNO):c.846C>T (p.Leu282=)
NM_021147.5(CCNO):c.84G>A (p.Pro28=)
NM_021147.5(CCNO):c.996T>C (p.Thr332=) rs1210789924
NM_021147.5(CCNO):c.9C>A (p.Thr3=)
NM_023036.6(DNAI2):c.1005G>C (p.Val335=)
NM_023036.6(DNAI2):c.1005G>T (p.Val335=) rs1598329997
NM_023036.6(DNAI2):c.1008G>T (p.Gly336=)
NM_023036.6(DNAI2):c.1011C>A (p.Thr337=)
NM_023036.6(DNAI2):c.1026C>G (p.Val342=) rs2144075616
NM_023036.6(DNAI2):c.1047C>T (p.Ala349=)
NM_023036.6(DNAI2):c.1071G>C (p.Val357=) rs2053119347
NM_023036.6(DNAI2):c.1074C>T (p.Cys358=) rs374687041
NM_023036.6(DNAI2):c.1077C>T (p.Thr359=)
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=)
NM_023036.6(DNAI2):c.1113G>A (p.Gln371=)
NM_023036.6(DNAI2):c.111G>A (p.Leu37=) rs374070900
NM_023036.6(DNAI2):c.1122C>T (p.Pro374=)
NM_023036.6(DNAI2):c.1125C>T (p.Phe375=) rs2144076662
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=)
NM_023036.6(DNAI2):c.1137C>T (p.Asn379=)
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=) rs868645915
NM_023036.6(DNAI2):c.1141C>T (p.Leu381=)
NM_023036.6(DNAI2):c.1146G>C (p.Thr382=)
NM_023036.6(DNAI2):c.114C>G (p.Ala38=) rs763489979
NM_023036.6(DNAI2):c.114C>T (p.Ala38=)
NM_023036.6(DNAI2):c.1152C>T (p.Gly384=)
NM_023036.6(DNAI2):c.1155C>T (p.Asp385=)
NM_023036.6(DNAI2):c.1161A>G (p.Thr387=)
NM_023036.6(DNAI2):c.1167C>A (p.Arg389=) rs1463518851
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=)
NM_023036.6(DNAI2):c.1186C>A (p.Arg396=) rs758643189
NM_023036.6(DNAI2):c.1200C>T (p.Ile400=) rs2144077545
NM_023036.6(DNAI2):c.1209C>A (p.Thr403=) rs2053132959
NM_023036.6(DNAI2):c.1209C>T (p.Thr403=)
NM_023036.6(DNAI2):c.120G>A (p.Gln40=)
NM_023036.6(DNAI2):c.1211+10G>A
NM_023036.6(DNAI2):c.1211+17G>T
NM_023036.6(DNAI2):c.1211+7G>A
NM_023036.6(DNAI2):c.1211+7G>C
NM_023036.6(DNAI2):c.1211+9C>G
NM_023036.6(DNAI2):c.1212-17T>C rs2144104801
NM_023036.6(DNAI2):c.1212-19T>A
NM_023036.6(DNAI2):c.1212-20_1212-19del
NM_023036.6(DNAI2):c.1212-23_1212-9del
NM_023036.6(DNAI2):c.1212-7C>T rs1598339876
NM_023036.6(DNAI2):c.1212-9C>T rs2144104892
NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=)
NM_023036.6(DNAI2):c.1236T>C (p.Asp412=)
NM_023036.6(DNAI2):c.1239T>C (p.Ala413=)
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=) rs886053378
NM_023036.6(DNAI2):c.1260G>T (p.Pro420=) rs200043910
NM_023036.6(DNAI2):c.1263C>A (p.Thr421=) rs771686170
NM_023036.6(DNAI2):c.1263C>G (p.Thr421=) rs771686170
NM_023036.6(DNAI2):c.1263C>T (p.Thr421=)
NM_023036.6(DNAI2):c.126G>A (p.Val42=) rs2143874984
NM_023036.6(DNAI2):c.1275C>A (p.Thr425=) rs1598340123
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=) rs372940037
NM_023036.6(DNAI2):c.1293C>A (p.Thr431=) rs2144105751
NM_023036.6(DNAI2):c.1299T>C (p.Asp433=) rs2144105794
NM_023036.6(DNAI2):c.12G>T (p.Val4=)
NM_023036.6(DNAI2):c.1317C>T (p.Phe439=) rs199524166
NM_023036.6(DNAI2):c.1323G>A (p.Gln441=)
NM_023036.6(DNAI2):c.1338C>G (p.Leu446=) rs1246377044
NM_023036.6(DNAI2):c.1338C>T (p.Leu446=)
NM_023036.6(DNAI2):c.1347+10A>G
NM_023036.6(DNAI2):c.1347+12G>A
NM_023036.6(DNAI2):c.1347+13T>A
NM_023036.6(DNAI2):c.1347+14C>A
NM_023036.6(DNAI2):c.1347+18C>T
NM_023036.6(DNAI2):c.1347+19C>T
NM_023036.6(DNAI2):c.1347+6_1347+7delinsTT rs2144106208
NM_023036.6(DNAI2):c.1347+7C>G rs2290955
NM_023036.6(DNAI2):c.1347+8G>A rs763011642
NM_023036.6(DNAI2):c.1347+8G>C rs763011642
NM_023036.6(DNAI2):c.1348-11C>G
NM_023036.6(DNAI2):c.1348-14G>T
NM_023036.6(DNAI2):c.1348-15C>G rs755825865
NM_023036.6(DNAI2):c.1348-15C>T
NM_023036.6(DNAI2):c.1348-16C>T
NM_023036.6(DNAI2):c.1348-18G>T
NM_023036.6(DNAI2):c.1348-6C>T rs2144112203
NM_023036.6(DNAI2):c.1350G>T (p.Val450=) rs2144112278
NM_023036.6(DNAI2):c.1362C>T (p.Ala454=) rs2144112441
NM_023036.6(DNAI2):c.1365C>T (p.Leu455=) rs2144112493
NM_023036.6(DNAI2):c.1389T>C (p.Asn463=) rs1598342483
NM_023036.6(DNAI2):c.1398C>T (p.Leu466=)
NM_023036.6(DNAI2):c.1416G>A (p.Gln472=)
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=)
NM_023036.6(DNAI2):c.1422G>A (p.Gly474=)
NM_023036.6(DNAI2):c.1428C>G (p.Thr476=)
NM_023036.6(DNAI2):c.1437G>A (p.Leu479=) rs1356113280
NM_023036.6(DNAI2):c.1440G>A (p.Glu480=)
NM_023036.6(DNAI2):c.1446G>A (p.Ser482=) rs368217836
NM_023036.6(DNAI2):c.144C>T (p.Asp48=) rs755741675
NM_023036.6(DNAI2):c.1452G>C (p.Gly484=) rs1759061828
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=) rs901923607
NM_023036.6(DNAI2):c.1458T>C (p.Ser486=)
NM_023036.6(DNAI2):c.1461C>T (p.Thr487=)
NM_023036.6(DNAI2):c.1473T>C (p.Asn491=)
NM_023036.6(DNAI2):c.147G>A (p.Thr49=) rs369017940
NM_023036.6(DNAI2):c.147G>C (p.Thr49=) rs369017940
NM_023036.6(DNAI2):c.1491T>C (p.Ser497=) rs2144113722
NM_023036.6(DNAI2):c.1494+12G>C
NM_023036.6(DNAI2):c.1494+18G>A
NM_023036.6(DNAI2):c.1494+20G>A
NM_023036.6(DNAI2):c.1494+7A>G rs2144113793
NM_023036.6(DNAI2):c.1495-10G>C rs762668832
NM_023036.6(DNAI2):c.1495-12C>G
NM_023036.6(DNAI2):c.1495-12C>T
NM_023036.6(DNAI2):c.1495-13C>G
NM_023036.6(DNAI2):c.1495-14C>G
NM_023036.6(DNAI2):c.1495-14C>T
NM_023036.6(DNAI2):c.1495-4C>T
NM_023036.6(DNAI2):c.1506T>C (p.Arg502=) rs1060504506
NM_023036.6(DNAI2):c.1509G>A (p.Glu503=)
NM_023036.6(DNAI2):c.1512C>G (p.Thr504=)
NM_023036.6(DNAI2):c.1512C>T (p.Thr504=) rs1273766803
NM_023036.6(DNAI2):c.1515G>A (p.Arg505=)
NM_023036.6(DNAI2):c.1527C>A (p.Ile509=) rs1395585835
NM_023036.6(DNAI2):c.1552C>A (p.Arg518=)
NM_023036.6(DNAI2):c.1557G>A (p.Leu519=) rs1223294262
NM_023036.6(DNAI2):c.1557G>T (p.Leu519=)
NM_023036.6(DNAI2):c.1599C>A (p.Thr533=)
NM_023036.6(DNAI2):c.1599C>G (p.Thr533=)
NM_023036.6(DNAI2):c.1611G>T (p.Leu537=)
NM_023036.6(DNAI2):c.1626G>A (p.Glu542=) rs1357252118
NM_023036.6(DNAI2):c.1644C>G (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1653G>A (p.Glu551=)
NM_023036.6(DNAI2):c.165C>T (p.Ile55=)
NM_023036.6(DNAI2):c.1665C>A (p.Ile555=)
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=)
NM_023036.6(DNAI2):c.1713G>C (p.Thr571=) rs377499410
NM_023036.6(DNAI2):c.1716A>C (p.Pro572=)
NM_023036.6(DNAI2):c.1722+10T>C
NM_023036.6(DNAI2):c.1722+14C>T
NM_023036.6(DNAI2):c.1722+15A>G
NM_023036.6(DNAI2):c.1722+15_1722+16del
NM_023036.6(DNAI2):c.1722+8C>A rs1385576590
NM_023036.6(DNAI2):c.1723-17G>A
NM_023036.6(DNAI2):c.1723-19G>A
NM_023036.6(DNAI2):c.1723-20T>C
NM_023036.6(DNAI2):c.1723-4G>A rs2144147476
NM_023036.6(DNAI2):c.1723-5T>C
NM_023036.6(DNAI2):c.1723-9C>G
NM_023036.6(DNAI2):c.1737A>G (p.Pro579=)
NM_023036.6(DNAI2):c.1749G>A (p.Gln583=)
NM_023036.6(DNAI2):c.1761G>A (p.Glu587=) rs1598353611
NM_023036.6(DNAI2):c.1773A>G (p.Ala591=) rs2144147960
NM_023036.6(DNAI2):c.1782A>G (p.Glu594=) rs762217686
NM_023036.6(DNAI2):c.1788G>C (p.Gly596=) rs926548169
NM_023036.6(DNAI2):c.1794A>G (p.Glu598=) rs2144148291
NM_023036.6(DNAI2):c.1806A>G (p.Glu602=) rs1375459041
NM_023036.6(DNAI2):c.180C>T (p.His60=)
NM_023036.6(DNAI2):c.1818G>A (p.Ter606=)
NM_023036.6(DNAI2):c.183+12C>T
NM_023036.6(DNAI2):c.183+14C>T
NM_023036.6(DNAI2):c.183+15C>T
NM_023036.6(DNAI2):c.183+20G>T
NM_023036.6(DNAI2):c.184-13G>A
NM_023036.6(DNAI2):c.184-15C>T
NM_023036.6(DNAI2):c.184-20T>G
NM_023036.6(DNAI2):c.184-8C>T rs2143902452
NM_023036.6(DNAI2):c.184-9T>C rs2143902431
NM_023036.6(DNAI2):c.18G>A (p.Val6=) rs1266514021
NM_023036.6(DNAI2):c.192A>T (p.Ser64=)
NM_023036.6(DNAI2):c.196C>A (p.Arg66=) rs371226659
NM_023036.6(DNAI2):c.198G>A (p.Arg66=) rs763731811
NM_023036.6(DNAI2):c.213C>T (p.Thr71=)
NM_023036.6(DNAI2):c.225C>T (p.Asn75=)
NM_023036.6(DNAI2):c.228T>C (p.His76=)
NM_023036.6(DNAI2):c.267G>A (p.Glu89=) rs1469550104
NM_023036.6(DNAI2):c.279C>T (p.Thr93=) rs1033783344
NM_023036.6(DNAI2):c.27G>A (p.Lys9=) rs2143873748
NM_023036.6(DNAI2):c.297A>G (p.Lys99=)
NM_023036.6(DNAI2):c.300G>A (p.Val100=)
NM_023036.6(DNAI2):c.300G>C (p.Val100=)
NM_023036.6(DNAI2):c.303G>A (p.Glu101=) rs199535813
NM_023036.6(DNAI2):c.30G>A (p.Lys10=)
NM_023036.6(DNAI2):c.336G>A (p.Gln112=) rs751496866
NM_023036.6(DNAI2):c.339C>G (p.Leu113=)
NM_023036.6(DNAI2):c.339C>T (p.Leu113=) rs957243389
NM_023036.6(DNAI2):c.33C>A (p.Arg11=)
NM_023036.6(DNAI2):c.33C>T (p.Arg11=) rs2143873820
NM_023036.6(DNAI2):c.342C>T (p.Gly114=) rs757494255
NM_023036.6(DNAI2):c.345+18C>T
NM_023036.6(DNAI2):c.345+19C>A
NM_023036.6(DNAI2):c.345+20C>T
NM_023036.6(DNAI2):c.346-10T>C rs758678063
NM_023036.6(DNAI2):c.346-13G>A
NM_023036.6(DNAI2):c.346-5C>T rs751933779
NM_023036.6(DNAI2):c.346-8C>T rs1224415599
NM_023036.6(DNAI2):c.346-9C>G
NM_023036.6(DNAI2):c.346-9C>T rs780216155
NM_023036.6(DNAI2):c.354G>A (p.Glu118=)
NM_023036.6(DNAI2):c.357C>T (p.His119=)
NM_023036.6(DNAI2):c.369G>A (p.Gln123=)
NM_023036.6(DNAI2):c.36C>T (p.Ser12=)
NM_023036.6(DNAI2):c.39G>A (p.Glu13=) rs533814143
NM_023036.6(DNAI2):c.405T>C (p.Asn135=)
NM_023036.6(DNAI2):c.411G>A (p.Glu137=) rs1305242771
NM_023036.6(DNAI2):c.42C>T (p.Phe14=) rs1305282590
NM_023036.6(DNAI2):c.444A>G (p.Ser148=) rs2143921761
NM_023036.6(DNAI2):c.444A>T (p.Ser148=)
NM_023036.6(DNAI2):c.447T>C (p.Ala149=)
NM_023036.6(DNAI2):c.459T>C (p.Asn153=)
NM_023036.6(DNAI2):c.467+14C>G
NM_023036.6(DNAI2):c.467+17G>T
NM_023036.6(DNAI2):c.467+7C>A
NM_023036.6(DNAI2):c.467+7C>T rs1421393242
NM_023036.6(DNAI2):c.467+9A>G rs2143922010
NM_023036.6(DNAI2):c.468-12T>C
NM_023036.6(DNAI2):c.468-5T>C
NM_023036.6(DNAI2):c.468-7C>T rs756523421
NM_023036.6(DNAI2):c.474C>A (p.Pro158=)
NM_023036.6(DNAI2):c.474C>T (p.Pro158=)
NM_023036.6(DNAI2):c.477G>A (p.Gln159=)
NM_023036.6(DNAI2):c.480A>G (p.Glu160=) rs2143940713
NM_023036.6(DNAI2):c.483C>T (p.Ile161=) rs1598289369
NM_023036.6(DNAI2):c.486G>A (p.Lys162=)
NM_023036.6(DNAI2):c.489G>A (p.Arg163=)
NM_023036.6(DNAI2):c.495C>T (p.Ala165=) rs2143940825
NM_023036.6(DNAI2):c.51G>A (p.Gln17=) rs1029295506
NM_023036.6(DNAI2):c.522C>T (p.Gly174=) rs557724360
NM_023036.6(DNAI2):c.525C>T (p.Asn175=)
NM_023036.6(DNAI2):c.528G>A (p.Arg176=) rs2143941147
NM_023036.6(DNAI2):c.543A>T (p.Ala181=) rs2143941244
NM_023036.6(DNAI2):c.576G>A (p.Val192=)
NM_023036.6(DNAI2):c.585C>T (p.Ser195=) rs2143941526
NM_023036.6(DNAI2):c.588C>T (p.Ser196=) rs1359353945
NM_023036.6(DNAI2):c.594A>G (p.Ser198=)
NM_023036.6(DNAI2):c.606C>T (p.Asp202=)
NM_023036.6(DNAI2):c.610+10A>G rs2143941784
NM_023036.6(DNAI2):c.610+20T>C
NM_023036.6(DNAI2):c.610+9C>G
NM_023036.6(DNAI2):c.611-13T>C rs780969152
NM_023036.6(DNAI2):c.611-16T>A
NM_023036.6(DNAI2):c.611-17T>A
NM_023036.6(DNAI2):c.611-19A>C
NM_023036.6(DNAI2):c.611-19A>T
NM_023036.6(DNAI2):c.611-4A>G rs752506783
NM_023036.6(DNAI2):c.611-6T>G
NM_023036.6(DNAI2):c.611-7T>C
NM_023036.6(DNAI2):c.611-7T>G rs2143951498
NM_023036.6(DNAI2):c.621C>T (p.Asn207=) rs2052059556
NM_023036.6(DNAI2):c.63G>A (p.Ser21=)
NM_023036.6(DNAI2):c.63G>C (p.Ser21=) rs747888220
NM_023036.6(DNAI2):c.645A>G (p.Pro215=)
NM_023036.6(DNAI2):c.648G>A (p.Ser216=)
NM_023036.6(DNAI2):c.654A>T (p.Pro218=)
NM_023036.6(DNAI2):c.657C>G (p.Leu219=) rs539461253
NM_023036.6(DNAI2):c.660G>T (p.Val220=)
NM_023036.6(DNAI2):c.663G>T (p.Thr221=)
NM_023036.6(DNAI2):c.669G>A (p.Glu223=) rs1211030253
NM_023036.6(DNAI2):c.66C>T (p.Asp22=)
NM_023036.6(DNAI2):c.675C>T (p.Asn225=) rs2052063737
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) rs576683556
NM_023036.6(DNAI2):c.690C>T (p.His230=)
NM_023036.6(DNAI2):c.697C>T (p.Leu233=)
NM_023036.6(DNAI2):c.69C>T (p.Arg23=) rs2143874354
NM_023036.6(DNAI2):c.702T>C (p.Gly234=) rs2143952522
NM_023036.6(DNAI2):c.705C>T (p.Gly235=)
NM_023036.6(DNAI2):c.714T>C (p.Asn238=)
NM_023036.6(DNAI2):c.724+12C>A
NM_023036.6(DNAI2):c.724+18C>T
NM_023036.6(DNAI2):c.724+20T>G
NM_023036.6(DNAI2):c.724+20TTTTTA[2]
NM_023036.6(DNAI2):c.724+20TTTTTA[4]
NM_023036.6(DNAI2):c.725-13_725-11del
NM_023036.6(DNAI2):c.725-5A>T
NM_023036.6(DNAI2):c.725-6C>G rs374155875
NM_023036.6(DNAI2):c.725-8C>T rs2144026133
NM_023036.6(DNAI2):c.725-9C>T
NM_023036.6(DNAI2):c.738C>A (p.Thr246=) rs954506062
NM_023036.6(DNAI2):c.738C>T (p.Thr246=) rs954506062
NM_023036.6(DNAI2):c.747C>A (p.Gly249=) rs148488355
NM_023036.6(DNAI2):c.750C>T (p.Ser250=)
NM_023036.6(DNAI2):c.75C>T (p.Ala25=) rs749172812
NM_023036.6(DNAI2):c.780C>T (p.Ser260=)
NM_023036.6(DNAI2):c.78G>A (p.Glu26=)
NM_023036.6(DNAI2):c.795T>C (p.Pro265=) rs761552228
NM_023036.6(DNAI2):c.798G>A (p.Val266=) rs1598313604
NM_023036.6(DNAI2):c.801T>C (p.Tyr267=)
NM_023036.6(DNAI2):c.804C>G (p.Gly268=) rs2144027042
NM_023036.6(DNAI2):c.810C>A (p.Ile270=) rs2052655463
NM_023036.6(DNAI2):c.814C>T (p.Leu272=) rs1183280081
NM_023036.6(DNAI2):c.816G>A (p.Leu272=) rs62065712
NM_023036.6(DNAI2):c.819G>A (p.Gln273=)
NM_023036.6(DNAI2):c.831C>T (p.Gly277=)
NM_023036.6(DNAI2):c.837G>A (p.Glu279=) rs772574421
NM_023036.6(DNAI2):c.840C>T (p.Cys280=)
NM_023036.6(DNAI2):c.861G>A (p.Gly287=)
NM_023036.6(DNAI2):c.864+10A>T
NM_023036.6(DNAI2):c.864+14A>G
NM_023036.6(DNAI2):c.864+16A>C
NM_023036.6(DNAI2):c.864+17C>A
NM_023036.6(DNAI2):c.864+19C>G
NM_023036.6(DNAI2):c.864+19C>T
NM_023036.6(DNAI2):c.864+9C>T
NM_023036.6(DNAI2):c.865-10C>T rs2052731313
NM_023036.6(DNAI2):c.865-15C>G rs201457679
NM_023036.6(DNAI2):c.865-15C>T rs201457679
NM_023036.6(DNAI2):c.865-17G>A
NM_023036.6(DNAI2):c.865-5A>T
NM_023036.6(DNAI2):c.865-6_865-5inv
NM_023036.6(DNAI2):c.865-7C>A
NM_023036.6(DNAI2):c.882C>A (p.Ile294=)
NM_023036.6(DNAI2):c.894C>T (p.Ser298=)
NM_023036.6(DNAI2):c.903T>C (p.Thr301=) rs2144035167
NM_023036.6(DNAI2):c.90C>T (p.Asp30=)
NM_023036.6(DNAI2):c.921C>T (p.Asp307=)
NM_023036.6(DNAI2):c.924C>A (p.Ile308=) rs747748164
NM_023036.6(DNAI2):c.939G>A (p.Gln313=)
NM_023036.6(DNAI2):c.940T>C (p.Leu314=) rs749072778
NM_023036.6(DNAI2):c.951C>T (p.Ala317=)
NM_023036.6(DNAI2):c.957G>A (p.Gly319=) rs2144035485
NM_023036.6(DNAI2):c.966C>G (p.Ser322=) rs765353102
NM_023036.6(DNAI2):c.966C>T (p.Ser322=)
NM_023036.6(DNAI2):c.969G>C (p.Leu323=) rs1306977536
NM_023036.6(DNAI2):c.978A>G (p.Glu326=) rs763193003
NM_023036.6(DNAI2):c.981T>C (p.Ser327=) rs886038679
NM_023036.6(DNAI2):c.987+14dup
NM_023036.6(DNAI2):c.987+9C>G rs2144035707
NM_023036.6(DNAI2):c.988-10C>T rs2144075152
NM_023036.6(DNAI2):c.988-16G>A
NM_023036.6(DNAI2):c.9T>C (p.Ile3=) rs2143873517
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=) rs6697820
NM_024649.5(BBS1):c.1008G>A (p.Leu336=)
NM_024649.5(BBS1):c.1014G>A (p.Gln338=)
NM_024649.5(BBS1):c.1017T>C (p.His339=)
NM_024649.5(BBS1):c.1026C>T (p.Gly342=) rs2134797305
NM_024649.5(BBS1):c.102C>A (p.Ile34=) rs760081811
NM_024649.5(BBS1):c.102C>T (p.Ile34=) rs760081811
NM_024649.5(BBS1):c.1038C>A (p.Val346=)
NM_024649.5(BBS1):c.1047G>A (p.Gly349=)
NM_024649.5(BBS1):c.1050G>A (p.Leu350=)
NM_024649.5(BBS1):c.105C>T (p.His35=)
NM_024649.5(BBS1):c.1062G>A (p.Glu354=) rs773617456
NM_024649.5(BBS1):c.1086C>T (p.Ala362=)
NM_024649.5(BBS1):c.1107C>G (p.Thr369=)
NM_024649.5(BBS1):c.1107C>T (p.Thr369=) rs2134797905
NM_024649.5(BBS1):c.1110+10A>G
NM_024649.5(BBS1):c.1110+12C>A
NM_024649.5(BBS1):c.1110+13_1110+14del
NM_024649.5(BBS1):c.1110+14C>G
NM_024649.5(BBS1):c.1110+16G>A
NM_024649.5(BBS1):c.1110+19A>T
NM_024649.5(BBS1):c.1110+20T>A rs1590767738
NM_024649.5(BBS1):c.1110+9C>T
NM_024649.5(BBS1):c.1111-10C>T rs1856477734
NM_024649.5(BBS1):c.1111-17_1111-16del
NM_024649.5(BBS1):c.1111-18T>G
NM_024649.5(BBS1):c.1111-4A>G
NM_024649.5(BBS1):c.1111-5C>A
NM_024649.5(BBS1):c.1111-6A>G
NM_024649.5(BBS1):c.1111-6A>T
NM_024649.5(BBS1):c.1111-8C>T rs2134809182
NM_024649.5(BBS1):c.1113T>C (p.Asp371=)
NM_024649.5(BBS1):c.111T>C (p.Phe37=)
NM_024649.5(BBS1):c.1122C>G (p.Thr374=)
NM_024649.5(BBS1):c.1122C>T (p.Thr374=)
NM_024649.5(BBS1):c.1125C>T (p.Ser375=)
NM_024649.5(BBS1):c.1134T>C (p.Phe378=) rs2134809483
NM_024649.5(BBS1):c.1140G>T (p.Arg380=) rs959671412
NM_024649.5(BBS1):c.1149G>A (p.Arg383=)
NM_024649.5(BBS1):c.1180+17C>T
NM_024649.5(BBS1):c.1180+20G>C
NM_024649.5(BBS1):c.1181-10A>G
NM_024649.5(BBS1):c.1181-17A>G
NM_024649.5(BBS1):c.1181-4C>A rs1856511238
NM_024649.5(BBS1):c.1188C>T (p.Gly396=)
NM_024649.5(BBS1):c.1189C>T (p.Leu397=) rs1856512452
NM_024649.5(BBS1):c.1194C>T (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1200G>A (p.Lys400=) rs761389294
NM_024649.5(BBS1):c.1203C>T (p.Ile401=) rs2134812233
NM_024649.5(BBS1):c.120C>T (p.Cys40=) rs1224146191
NM_024649.5(BBS1):c.1212T>A (p.Arg404=)
NM_024649.5(BBS1):c.1215A>G (p.Thr405=)
NM_024649.5(BBS1):c.1221G>A (p.Val407=)
NM_024649.5(BBS1):c.1224T>C (p.Phe408=)
NM_024649.5(BBS1):c.124+11G>A
NM_024649.5(BBS1):c.124+13A>G rs751779071
NM_024649.5(BBS1):c.124+17A>C rs1374531142
NM_024649.5(BBS1):c.124+17A>G
NM_024649.5(BBS1):c.124+18G>A
NM_024649.5(BBS1):c.124+19G>C rs761993639
NM_024649.5(BBS1):c.124+9C>T
NM_024649.5(BBS1):c.1245G>A (p.Val415=) rs1590772951
NM_024649.5(BBS1):c.125-15C>T
NM_024649.5(BBS1):c.125-18G>T
NM_024649.5(BBS1):c.125-4C>T rs2134765678
NM_024649.5(BBS1):c.1251C>T (p.Pro417=)
NM_024649.5(BBS1):c.1284C>G (p.Pro428=)
NM_024649.5(BBS1):c.1284C>T (p.Pro428=)
NM_024649.5(BBS1):c.1293C>T (p.Thr431=)
NM_024649.5(BBS1):c.12G>A (p.Ala4=) rs754161831
NM_024649.5(BBS1):c.1315C>T (p.Leu439=)
NM_024649.5(BBS1):c.1318C>A (p.Arg440=)
NM_024649.5(BBS1):c.132A>G (p.Ala44=) rs2134765700
NM_024649.5(BBS1):c.1335C>T (p.Gly445=)
NM_024649.5(BBS1):c.1339+15G>A
NM_024649.5(BBS1):c.1339+16G>C
NM_024649.5(BBS1):c.1339+20C>A
NM_024649.5(BBS1):c.1339+7C>G
NM_024649.5(BBS1):c.1340-10T>G rs2134830571
NM_024649.5(BBS1):c.1340-13C>T
NM_024649.5(BBS1):c.1340-5C>T
NM_024649.5(BBS1):c.1340-6C>T
NM_024649.5(BBS1):c.1341C>A (p.Ala447=)
NM_024649.5(BBS1):c.1348C>A (p.Arg450=) rs746824022
NM_024649.5(BBS1):c.1353C>T (p.Ala451=)
NM_024649.5(BBS1):c.1356C>T (p.Phe452=) rs2134830713
NM_024649.5(BBS1):c.1362A>G (p.Thr454=) rs1198392457
NM_024649.5(BBS1):c.1365C>T (p.Asp455=) rs2134830735
NM_024649.5(BBS1):c.1392C>G (p.Ala464=)
NM_024649.5(BBS1):c.1401C>T (p.Tyr467=)
NM_024649.5(BBS1):c.1410C>G (p.Ala470=) rs1856695729
NM_024649.5(BBS1):c.1413C>A (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1413C>G (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1419C>T (p.Ser473=)
NM_024649.5(BBS1):c.1446C>A (p.Ala482=)
NM_024649.5(BBS1):c.1446C>T (p.Ala482=) rs553123090
NM_024649.5(BBS1):c.144G>A (p.Gly48=) rs2134765721
NM_024649.5(BBS1):c.1452G>A (p.Glu484=)
NM_024649.5(BBS1):c.1455A>G (p.Pro485=) rs2134831283
NM_024649.5(BBS1):c.1464G>T (p.Leu488=) rs1239688580
NM_024649.5(BBS1):c.1473+16A>T rs573129342
NM_024649.5(BBS1):c.1473+16_1473+18dup rs748694674
NM_024649.5(BBS1):c.1473+20C>T
NM_024649.5(BBS1):c.1473+7del
NM_024649.5(BBS1):c.1473+9C>A
NM_024649.5(BBS1):c.1474-10C>T
NM_024649.5(BBS1):c.1474-11C>T
NM_024649.5(BBS1):c.1474-16C>T
NM_024649.5(BBS1):c.1474-18C>T rs2134836485
NM_024649.5(BBS1):c.1474-7T>C
NM_024649.5(BBS1):c.150G>A (p.Gly50=)
NM_024649.5(BBS1):c.1512C>T (p.His504=) rs1301583558
NM_024649.5(BBS1):c.1524C>T (p.Thr508=) rs2134836921
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1548G>A (p.Gly516=)
NM_024649.5(BBS1):c.1548G>C (p.Gly516=) rs763101401
NM_024649.5(BBS1):c.1549C>T (p.Leu517=)
NM_024649.5(BBS1):c.1551G>A (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1551G>C (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1554G>C (p.Leu518=) rs760568652
NM_024649.5(BBS1):c.1557C>A (p.Val519=) rs370356893
NM_024649.5(BBS1):c.1560C>T (p.Cys520=)
NM_024649.5(BBS1):c.1563C>T (p.Phe521=)
NM_024649.5(BBS1):c.156C>T (p.Tyr52=)
NM_024649.5(BBS1):c.1578G>T (p.Ala526=) rs373397428
NM_024649.5(BBS1):c.1581C>G (p.Leu527=)
NM_024649.5(BBS1):c.159+11C>T rs1565280409
NM_024649.5(BBS1):c.159+11dup
NM_024649.5(BBS1):c.159+13C>A rs1855938272
NM_024649.5(BBS1):c.159+13C>T
NM_024649.5(BBS1):c.159+15C>A
NM_024649.5(BBS1):c.159+16T>A
NM_024649.5(BBS1):c.1596G>A (p.Arg532=) rs1299530387
NM_024649.5(BBS1):c.160-12C>T
NM_024649.5(BBS1):c.160-5T>G rs1856006695
NM_024649.5(BBS1):c.160-6C>T rs1590756372
NM_024649.5(BBS1):c.160-7C>T rs2134771164
NM_024649.5(BBS1):c.1602C>T (p.Phe534=)
NM_024649.5(BBS1):c.1605C>T (p.Phe535=)
NM_024649.5(BBS1):c.1608+16C>T rs2134837630
NM_024649.5(BBS1):c.1608+8A>G rs2134837603
NM_024649.5(BBS1):c.1608+8A>T
NM_024649.5(BBS1):c.1608+9T>C rs2134837615
NM_024649.5(BBS1):c.1609-10C>G
NM_024649.5(BBS1):c.1609-14G>T
NM_024649.5(BBS1):c.1609-4T>A
NM_024649.5(BBS1):c.1609-9C>T rs1181236498
NM_024649.5(BBS1):c.1614C>T (p.Pro538=)
NM_024649.5(BBS1):c.1632C>T (p.Leu544=)
NM_024649.5(BBS1):c.1638C>T (p.Tyr546=) rs1856787758
NM_024649.5(BBS1):c.1641C>A (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>G (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>T (p.Pro547=)
NM_024649.5(BBS1):c.1668T>C (p.Ser556=)
NM_024649.5(BBS1):c.1683A>G (p.Ser561=) rs1856790888
NM_024649.5(BBS1):c.1692C>T (p.Ile564=) rs2134841325
NM_024649.5(BBS1):c.1696-13C>T
NM_024649.5(BBS1):c.1696-14C>A
NM_024649.5(BBS1):c.1696-16G>A
NM_024649.5(BBS1):c.1696-4A>G
NM_024649.5(BBS1):c.1696-5C>T rs2134842580
NM_024649.5(BBS1):c.1696-6C>T
NM_024649.5(BBS1):c.1696-7T>C
NM_024649.5(BBS1):c.1701G>C (p.Leu567=)
NM_024649.5(BBS1):c.1701G>T (p.Leu567=)
NM_024649.5(BBS1):c.1728C>T (p.Pro576=) rs779302298
NM_024649.5(BBS1):c.1734G>A (p.Leu578=)
NM_024649.5(BBS1):c.1734G>C (p.Leu578=) rs2134842985
NM_024649.5(BBS1):c.1740C>T (p.Ala580=) rs2134843050
NM_024649.5(BBS1):c.174C>T (p.Asp58=)
NM_024649.5(BBS1):c.1755T>C (p.Pro585=)
NM_024649.5(BBS1):c.1758G>T (p.Gly586=)
NM_024649.5(BBS1):c.1761C>T (p.Ser587=)
NM_024649.5(BBS1):c.1764G>A (p.Glu588=) rs2134843313
NM_024649.5(BBS1):c.1779C>T (p.Ala593=) rs1262928353
NM_024649.5(BBS1):c.1781G>A (p.Ter594=) rs1475796233
NM_024649.5(BBS1):c.18A>C (p.Ser6=)
NM_024649.5(BBS1):c.18A>T (p.Ser6=) rs758441011
NM_024649.5(BBS1):c.201C>T (p.Arg67=) rs2134771274
NM_024649.5(BBS1):c.204G>A (p.Leu68=) rs11553180
NM_024649.5(BBS1):c.21G>A (p.Ser7=)
NM_024649.5(BBS1):c.21G>C (p.Ser7=)
NM_024649.5(BBS1):c.222A>C (p.Pro74=)
NM_024649.5(BBS1):c.222A>G (p.Pro74=)
NM_024649.5(BBS1):c.225G>A (p.Leu75=) rs2134771305
NM_024649.5(BBS1):c.228G>A (p.Val76=)
NM_024649.5(BBS1):c.234C>G (p.Thr78=) rs748732460
NM_024649.5(BBS1):c.237A>G (p.Glu79=) rs2134771324
NM_024649.5(BBS1):c.240C>T (p.Ser80=) rs1590756460
NM_024649.5(BBS1):c.243G>C (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.243G>T (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.252T>C (p.Ala84=)
NM_024649.5(BBS1):c.267T>C (p.Ala89=) rs1481566685
NM_024649.5(BBS1):c.270C>T (p.Ala90=) rs2134771366
NM_024649.5(BBS1):c.273C>T (p.Thr91=)
NM_024649.5(BBS1):c.276C>T (p.Phe92=)
NM_024649.5(BBS1):c.279C>T (p.Leu93=)
NM_024649.5(BBS1):c.27C>T (p.Ser9=) rs373772468
NM_024649.5(BBS1):c.285G>A (p.Glu95=) rs1303303948
NM_024649.5(BBS1):c.300G>T (p.Arg100=)
NM_024649.5(BBS1):c.303C>T (p.Thr101=)
NM_024649.5(BBS1):c.309T>G (p.Ala103=)
NM_024649.5(BBS1):c.30C>T (p.Asp10=)
NM_024649.5(BBS1):c.312G>T (p.Leu104=)
NM_024649.5(BBS1):c.336C>A (p.Val112=) rs2134771483
NM_024649.5(BBS1):c.342G>A (p.Val114=) rs2134771502
NM_024649.5(BBS1):c.357A>G (p.Arg119=)
NM_024649.5(BBS1):c.363C>T (p.Tyr121=)
NM_024649.5(BBS1):c.369G>A (p.Lys123=) rs1432629236
NM_024649.5(BBS1):c.36C>T (p.Cys12=) rs1590753542
NM_024649.5(BBS1):c.372C>T (p.Phe124=)
NM_024649.5(BBS1):c.400C>T (p.Leu134=) rs771933760
NM_024649.5(BBS1):c.432+14A>C rs764645595
NM_024649.5(BBS1):c.432+14A>G
NM_024649.5(BBS1):c.432+7A>G
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-11C>T
NM_024649.5(BBS1):c.433-19T>C
NM_024649.5(BBS1):c.433-4A>G
NM_024649.5(BBS1):c.433-6T>G
NM_024649.5(BBS1):c.433-9T>C rs2134773143
NM_024649.5(BBS1):c.45G>A (p.Glu15=) rs767116799
NM_024649.5(BBS1):c.466C>T (p.Leu156=) rs2134773250
NM_024649.5(BBS1):c.468G>A (p.Leu156=) rs752092460
NM_024649.5(BBS1):c.47+12G>A
NM_024649.5(BBS1):c.47+15C>A
NM_024649.5(BBS1):c.47+16C>T
NM_024649.5(BBS1):c.47+19A>G rs970767838
NM_024649.5(BBS1):c.47+20A>C
NM_024649.5(BBS1):c.47+20A>G
NM_024649.5(BBS1):c.47+7G>A
NM_024649.5(BBS1):c.47+7G>T
NM_024649.5(BBS1):c.47+9A>C
NM_024649.5(BBS1):c.47+9A>G
NM_024649.5(BBS1):c.47+9A>T rs755329603
NM_024649.5(BBS1):c.477C>T (p.Ile159=)
NM_024649.5(BBS1):c.479+12C>T
NM_024649.5(BBS1):c.479+16C>T
NM_024649.5(BBS1):c.479+7G>A
NM_024649.5(BBS1):c.479+9C>T rs2134773282
NM_024649.5(BBS1):c.48-10C>T
NM_024649.5(BBS1):c.48-13C>A
NM_024649.5(BBS1):c.48-14dup
NM_024649.5(BBS1):c.48-18T>C
NM_024649.5(BBS1):c.48-7C>T rs2134765142
NM_024649.5(BBS1):c.48-9C>G
NM_024649.5(BBS1):c.48-9C>T rs765571574
NM_024649.5(BBS1):c.480-4G>T
NM_024649.5(BBS1):c.480-5T>C
NM_024649.5(BBS1):c.480-9T>C rs1856035253
NM_024649.5(BBS1):c.486G>A (p.Thr162=)
NM_024649.5(BBS1):c.486G>T (p.Thr162=)
NM_024649.5(BBS1):c.489A>G (p.Ala163=)
NM_024649.5(BBS1):c.492G>A (p.Glu164=)
NM_024649.5(BBS1):c.518+12G>A
NM_024649.5(BBS1):c.518+15G>T
NM_024649.5(BBS1):c.518+19G>A
NM_024649.5(BBS1):c.519-16T>G
NM_024649.5(BBS1):c.519-20C>G rs539484942
NM_024649.5(BBS1):c.51T>C (p.Asn17=) rs2134765186
NM_024649.5(BBS1):c.522T>C (p.Phe174=)
NM_024649.5(BBS1):c.528G>A (p.Gln176=)
NM_024649.5(BBS1):c.534G>A (p.Glu178=) rs2134773837
NM_024649.5(BBS1):c.535C>T (p.Leu179=) rs2134773849
NM_024649.5(BBS1):c.549G>A (p.Glu183=) rs2134773873
NM_024649.5(BBS1):c.558A>T (p.Val186=) rs1856039229
NM_024649.5(BBS1):c.561C>T (p.Asn187=)
NM_024649.5(BBS1):c.576C>T (p.Asn192=) rs2134773921
NM_024649.5(BBS1):c.579C>T (p.Ser193=) rs747846164
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.585G>A (p.Lys195=) rs2134773941
NM_024649.5(BBS1):c.588G>A (p.Arg196=)
NM_024649.5(BBS1):c.591+10C>A rs2134774008
NM_024649.5(BBS1):c.591+10C>T
NM_024649.5(BBS1):c.591+11C>T
NM_024649.5(BBS1):c.591+13T>C
NM_024649.5(BBS1):c.591+18T>G rs2134774029
NM_024649.5(BBS1):c.591+7C>G rs1407448709
NM_024649.5(BBS1):c.592-10C>T
NM_024649.5(BBS1):c.592-11T>A rs2134780351
NM_024649.5(BBS1):c.592-17C>T
NM_024649.5(BBS1):c.592-19C>A
NM_024649.5(BBS1):c.592-20C>T
NM_024649.5(BBS1):c.592-4G>A
NM_024649.5(BBS1):c.592-5T>C
NM_024649.5(BBS1):c.592-6C>A
NM_024649.5(BBS1):c.592-6C>G
NM_024649.5(BBS1):c.592-6C>T rs1462048534
NM_024649.5(BBS1):c.612C>A (p.Thr204=)
NM_024649.5(BBS1):c.63G>A (p.Ser21=) rs2134765230
NM_024649.5(BBS1):c.651T>G (p.Ser217=)
NM_024649.5(BBS1):c.66G>A (p.Lys22=)
NM_024649.5(BBS1):c.672G>A (p.Glu224=)
NM_024649.5(BBS1):c.687G>A (p.Leu229=) rs752374832
NM_024649.5(BBS1):c.690G>A (p.Val230=) rs2134780572
NM_024649.5(BBS1):c.696C>T (p.Asp232=) rs2134780578
NM_024649.5(BBS1):c.6C>A (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.6C>G (p.Ala2=)
NM_024649.5(BBS1):c.705C>T (p.Ala235=) rs2134780617
NM_024649.5(BBS1):c.723+11G>C
NM_024649.5(BBS1):c.723+12G>A
NM_024649.5(BBS1):c.723+13T>C
NM_024649.5(BBS1):c.723+16G>T
NM_024649.5(BBS1):c.723+19C>T
NM_024649.5(BBS1):c.724-13T>G
NM_024649.5(BBS1):c.724-15G>T
NM_024649.5(BBS1):c.724-17G>T
NM_024649.5(BBS1):c.724-17dup
NM_024649.5(BBS1):c.724-18T>A
NM_024649.5(BBS1):c.724-18T>C
NM_024649.5(BBS1):c.724-20T>G
NM_024649.5(BBS1):c.724-4G>A
NM_024649.5(BBS1):c.724-8_724-6del
NM_024649.5(BBS1):c.724-9T>C rs1590762249
NM_024649.5(BBS1):c.729C>T (p.Ser243=)
NM_024649.5(BBS1):c.751C>T (p.Leu251=)
NM_024649.5(BBS1):c.75T>C (p.Asp25=)
NM_024649.5(BBS1):c.777T>C (p.Val259=) rs2134784755
NM_024649.5(BBS1):c.780G>A (p.Glu260=)
NM_024649.5(BBS1):c.783C>T (p.Phe261=)
NM_024649.5(BBS1):c.816C>T (p.Ile272=) rs1856208944
NM_024649.5(BBS1):c.830+10T>C
NM_024649.5(BBS1):c.830+10T>G rs2134785089
NM_024649.5(BBS1):c.830+12del rs1343720111
NM_024649.5(BBS1):c.830+13G>A
NM_024649.5(BBS1):c.830+16G>A
NM_024649.5(BBS1):c.830+20C>G
NM_024649.5(BBS1):c.830+9A>G
NM_024649.5(BBS1):c.830+9A>T rs2134785082
NM_024649.5(BBS1):c.831-13_831-11del
NM_024649.5(BBS1):c.831-15T>G rs1293446597
NM_024649.5(BBS1):c.831-18G>A
NM_024649.5(BBS1):c.831-18G>C
NM_024649.5(BBS1):c.831-19T>C
NM_024649.5(BBS1):c.831-20G>A rs1856334164
NM_024649.5(BBS1):c.831-4A>G rs2134794642
NM_024649.5(BBS1):c.837C>T (p.Ser279=) rs2134794684
NM_024649.5(BBS1):c.843C>T (p.His281=)
NM_024649.5(BBS1):c.84C>T (p.Tyr28=) rs771560964
NM_024649.5(BBS1):c.873G>A (p.Gln291=) rs547524683
NM_024649.5(BBS1):c.888C>T (p.Ile296=)
NM_024649.5(BBS1):c.903C>T (p.Val301=) rs2134795241
NM_024649.5(BBS1):c.904C>T (p.Leu302=)
NM_024649.5(BBS1):c.921C>G (p.Thr307=) rs2134795441
NM_024649.5(BBS1):c.930C>T (p.Ser310=) rs901307899
NM_024649.5(BBS1):c.942C>T (p.Phe314=)
NM_024649.5(BBS1):c.945C>A (p.Thr315=) rs2134795565
NM_024649.5(BBS1):c.951+16AGC[2]
NM_024649.5(BBS1):c.952-12G>A
NM_024649.5(BBS1):c.952-15G>A
NM_024649.5(BBS1):c.952-16G>A
NM_024649.5(BBS1):c.952-18C>T
NM_024649.5(BBS1):c.952-20C>A rs1189838889
NM_024649.5(BBS1):c.952-5G>A rs2134796694
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.952-7C>T rs1590767187
NM_024649.5(BBS1):c.952-9C>T
NM_024649.5(BBS1):c.987C>T (p.Ala329=)
NM_024649.5(BBS1):c.996C>G (p.Thr332=)
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
NM_024685.4(BBS10):c.1014A>G (p.Glu338=) rs2136090679
NM_024685.4(BBS10):c.1026C>T (p.Ile342=) rs2136090671
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
NM_024685.4(BBS10):c.1059A>G (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.1059A>T (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.105A>G (p.Gln35=)
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1077G>A (p.Gln359=) rs2136090625
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1095T>C (p.Thr365=)
NM_024685.4(BBS10):c.1101G>A (p.Leu367=)
NM_024685.4(BBS10):c.1125C>T (p.Ile375=) rs762785764
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=) rs1340165752
NM_024685.4(BBS10):c.1149T>C (p.His383=)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1167A>G (p.Thr389=)
NM_024685.4(BBS10):c.1170T>C (p.Cys390=)
NM_024685.4(BBS10):c.1173A>G (p.Ala391=)
NM_024685.4(BBS10):c.1185C>T (p.His395=) rs863224793
NM_024685.4(BBS10):c.1188T>G (p.Ser396=) rs143903199
NM_024685.4(BBS10):c.1197T>A (p.Leu399=) rs974452621
NM_024685.4(BBS10):c.1218C>T (p.Leu406=) rs758194221
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
NM_024685.4(BBS10):c.1236T>C (p.Asp412=) rs2136090480
NM_024685.4(BBS10):c.1248A>G (p.Gly416=) rs2136090464
NM_024685.4(BBS10):c.1254T>C (p.Leu418=) rs920762954
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
NM_024685.4(BBS10):c.126T>G (p.Thr42=) rs1467112927
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
NM_024685.4(BBS10):c.1284T>A (p.Leu428=) rs1382756940
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
NM_024685.4(BBS10):c.129C>A (p.Gly43=) rs2136091554
NM_024685.4(BBS10):c.12T>C (p.Ser4=)
NM_024685.4(BBS10):c.1308C>G (p.Thr436=)
NM_024685.4(BBS10):c.1314C>T (p.Asp438=) rs2136090402
NM_024685.4(BBS10):c.1317A>G (p.Gln439=)
NM_024685.4(BBS10):c.1320T>C (p.Asn440=) rs2136090393
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
NM_024685.4(BBS10):c.1338T>C (p.Phe446=) rs941842098
NM_024685.4(BBS10):c.135G>C (p.Val45=)
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=) rs778731343
NM_024685.4(BBS10):c.1374A>G (p.Pro458=) rs778415408
NM_024685.4(BBS10):c.1383T>A (p.Gly461=)
NM_024685.4(BBS10):c.1383T>C (p.Gly461=) rs903725118
NM_024685.4(BBS10):c.138T>C (p.Leu46=) rs2136091543
NM_024685.4(BBS10):c.1392A>G (p.Ser464=)
NM_024685.4(BBS10):c.1395A>C (p.Ile465=) rs2136090313
NM_024685.4(BBS10):c.1416A>C (p.Thr472=) rs1345667368
NM_024685.4(BBS10):c.1455A>T (p.Thr485=) rs1951759523
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.147G>T (p.Arg49=)
NM_024685.4(BBS10):c.1494A>G (p.Val498=) rs1048483339
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=) rs1951759072
NM_024685.4(BBS10):c.1515G>A (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1515G>C (p.Pro505=)
NM_024685.4(BBS10):c.1515G>T (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1527C>T (p.Pro509=) rs762271852
NM_024685.4(BBS10):c.1531C>T (p.Leu511=) rs2136090156
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
NM_024685.4(BBS10):c.1557A>G (p.Thr519=) rs2136090123
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.156C>A (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.156C>T (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.1572A>C (p.Thr524=) rs1271927802
NM_024685.4(BBS10):c.1572A>T (p.Thr524=)
NM_024685.4(BBS10):c.1582T>C (p.Leu528=)
NM_024685.4(BBS10):c.1599A>G (p.Leu533=)
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
NM_024685.4(BBS10):c.1620A>G (p.Leu540=) rs1592491670
NM_024685.4(BBS10):c.1623C>G (p.Leu541=) rs2136090043
NM_024685.4(BBS10):c.1623C>T (p.Leu541=)
NM_024685.4(BBS10):c.162C>T (p.Leu54=)
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
NM_024685.4(BBS10):c.1641T>G (p.Ala547=) rs2136090029
NM_024685.4(BBS10):c.1656A>C (p.Gly552=) rs2136090019
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
NM_024685.4(BBS10):c.1677C>T (p.Tyr559=) rs375413604
NM_024685.4(BBS10):c.1683T>C (p.Asn561=)
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1686A>G (p.Leu562=)
NM_024685.4(BBS10):c.168G>A (p.Glu56=)
NM_024685.4(BBS10):c.1695A>G (p.Thr565=) rs1361225928
NM_024685.4(BBS10):c.1698T>C (p.Asn566=)
NM_024685.4(BBS10):c.1704T>C (p.Thr568=)
NM_024685.4(BBS10):c.1716C>T (p.Ser572=)
NM_024685.4(BBS10):c.171G>A (p.Ala57=)
NM_024685.4(BBS10):c.171G>C (p.Ala57=)
NM_024685.4(BBS10):c.1725A>C (p.Pro575=)
NM_024685.4(BBS10):c.1740A>G (p.Leu580=) rs2136089948
NM_024685.4(BBS10):c.174A>G (p.Leu58=) rs2136091515
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
NM_024685.4(BBS10):c.1806A>G (p.Val602=) rs1951756000
NM_024685.4(BBS10):c.1809T>C (p.Gly603=) rs2136089890
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
NM_024685.4(BBS10):c.1824C>T (p.Ile608=) rs753129922
NM_024685.4(BBS10):c.1825T>C (p.Leu609=) rs2136089870
NM_024685.4(BBS10):c.1827G>A (p.Leu609=) rs376793096
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
NM_024685.4(BBS10):c.1854C>T (p.Ala618=) rs2136089834
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
NM_024685.4(BBS10):c.1929C>T (p.Val643=) rs779691612
NM_024685.4(BBS10):c.1941T>C (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1944A>G (p.Lys648=)
NM_024685.4(BBS10):c.1947A>G (p.Thr649=) rs2136089752
NM_024685.4(BBS10):c.1950A>C (p.Gly650=) rs1369234749
NM_024685.4(BBS10):c.1953G>A (p.Lys651=)
NM_024685.4(BBS10):c.1956C>T (p.Tyr652=) rs1951754581
NM_024685.4(BBS10):c.197+18G>A
NM_024685.4(BBS10):c.197+20T>A
NM_024685.4(BBS10):c.197+7G>T rs1433969081
NM_024685.4(BBS10):c.1971A>G (p.Thr657=) rs2136089728
NM_024685.4(BBS10):c.198-12T>G rs1951774646
NM_024685.4(BBS10):c.198-17A>G
NM_024685.4(BBS10):c.198-17_198-14del rs776677235
NM_024685.4(BBS10):c.198-18T>G
NM_024685.4(BBS10):c.198-19T>G
NM_024685.4(BBS10):c.198-6G>A rs746527914
NM_024685.4(BBS10):c.198-7T>C rs2136091344
NM_024685.4(BBS10):c.198-8T>C
NM_024685.4(BBS10):c.198-9T>G rs2136091348
NM_024685.4(BBS10):c.1989T>C (p.His663=)
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
NM_024685.4(BBS10):c.2040A>G (p.Ser680=) rs1201858558
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=) rs752574665
NM_024685.4(BBS10):c.2059C>T (p.Leu687=) rs968389636
NM_024685.4(BBS10):c.2061A>G (p.Leu687=)
NM_024685.4(BBS10):c.2062C>T (p.Leu688=)
NM_024685.4(BBS10):c.2070A>T (p.Ser690=)
NM_024685.4(BBS10):c.2085G>A (p.Leu695=) rs2136089656
NM_024685.4(BBS10):c.2095T>C (p.Leu699=)
NM_024685.4(BBS10):c.2103T>C (p.Ile701=) rs2136089643
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
NM_024685.4(BBS10):c.210C>T (p.Asp70=) rs757062257
NM_024685.4(BBS10):c.2130C>T (p.His710=)
NM_024685.4(BBS10):c.2139A>G (p.Lys713=) rs2136089616
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
NM_024685.4(BBS10):c.270T>C (p.Leu90=) rs200390697
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
NM_024685.4(BBS10):c.288A>G (p.Gly96=) rs2136091268
NM_024685.4(BBS10):c.309A>G (p.Arg103=) rs745374133
NM_024685.4(BBS10):c.315G>A (p.Lys105=)
NM_024685.4(BBS10):c.336C>T (p.Asn112=) rs1951771752
NM_024685.4(BBS10):c.357T>C (p.His119=) rs201401485
NM_024685.4(BBS10):c.36G>A (p.Lys12=) rs2136091631
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
NM_024685.4(BBS10):c.421T>C (p.Leu141=) rs2136091159
NM_024685.4(BBS10):c.426C>T (p.Asp142=) rs770799633
NM_024685.4(BBS10):c.445C>T (p.Leu149=) rs758553544
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
NM_024685.4(BBS10):c.510A>G (p.Leu170=) rs2136091058
NM_024685.4(BBS10):c.513G>A (p.Glu171=)
NM_024685.4(BBS10):c.522A>G (p.Leu174=) rs2136091055
NM_024685.4(BBS10):c.534T>C (p.Phe178=)
NM_024685.4(BBS10):c.54C>A (p.Ala18=) rs772653493
NM_024685.4(BBS10):c.564A>G (p.Lys188=) rs1951768043
NM_024685.4(BBS10):c.577T>C (p.Leu193=) rs1951767890
NM_024685.4(BBS10):c.579G>A (p.Leu193=) rs2136091005
NM_024685.4(BBS10):c.597C>T (p.Phe199=)
NM_024685.4(BBS10):c.600G>A (p.Lys200=)
NM_024685.4(BBS10):c.60G>C (p.Val20=)
NM_024685.4(BBS10):c.60G>T (p.Val20=)
NM_024685.4(BBS10):c.621G>A (p.Gly207=) rs2136090980
NM_024685.4(BBS10):c.627T>A (p.Gly209=) rs2136090970
NM_024685.4(BBS10):c.630A>G (p.Val210=) rs759791957
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
NM_024685.4(BBS10):c.69C>T (p.Ala23=) rs2136091596
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
NM_024685.4(BBS10):c.72C>T (p.Ile24=) rs754188249
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
NM_024685.4(BBS10):c.750A>G (p.Pro250=) rs2136090884
NM_024685.4(BBS10):c.762C>T (p.Asp254=) rs2136090876
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
NM_024685.4(BBS10):c.804T>C (p.Phe268=) rs770050659
NM_024685.4(BBS10):c.813T>C (p.Ser271=)
NM_024685.4(BBS10):c.816A>G (p.Gly272=)
NM_024685.4(BBS10):c.837A>G (p.Ser279=) rs2136090820
NM_024685.4(BBS10):c.843A>C (p.Ala281=)
NM_024685.4(BBS10):c.855A>T (p.Thr285=) rs1951765525
NM_024685.4(BBS10):c.858T>C (p.Ser286=) rs1592492325
NM_024685.4(BBS10):c.876A>G (p.Glu292=) rs2136090796
NM_024685.4(BBS10):c.879G>A (p.Lys293=) rs2136090790
NM_024685.4(BBS10):c.903A>G (p.Leu301=) rs2136090772
NM_024685.4(BBS10):c.912G>A (p.Gln304=)
NM_024685.4(BBS10):c.927C>G (p.Leu309=)
NM_024685.4(BBS10):c.933T>C (p.Ser311=)
NM_024685.4(BBS10):c.93C>T (p.Pro31=)
NM_024685.4(BBS10):c.945A>G (p.Gln315=) rs2136090742
NM_024685.4(BBS10):c.951T>C (p.Asp317=)
NM_024685.4(BBS10):c.963T>C (p.Tyr321=) rs1555202662
NM_024685.4(BBS10):c.969A>C (p.Ala323=)
NM_024685.4(BBS10):c.975G>A (p.Val325=)
NM_024685.4(BBS10):c.999T>C (p.Cys333=) rs1565809867
NM_024753.5(TTC21B):c.1032G>A (p.Leu344=)
NM_024753.5(TTC21B):c.1080C>G (p.Ala360=)
NM_024753.5(TTC21B):c.1087+18A>G rs1686833362
NM_024753.5(TTC21B):c.1088-12G>T
NM_024753.5(TTC21B):c.1088-13T>C
NM_024753.5(TTC21B):c.1088-18T>A rs1487373774
NM_024753.5(TTC21B):c.1088-20T>A
NM_024753.5(TTC21B):c.1089A>T (p.Gly363=)
NM_024753.5(TTC21B):c.1119A>G (p.Gln373=)
NM_024753.5(TTC21B):c.1140G>A (p.Gln380=)
NM_024753.5(TTC21B):c.114C>T (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1152A>G (p.Leu384=)
NM_024753.5(TTC21B):c.1173T>A (p.Ile391=)
NM_024753.5(TTC21B):c.1179A>G (p.Lys393=) rs2105343710
NM_024753.5(TTC21B):c.1185+15_1185+19del
NM_024753.5(TTC21B):c.1266C>A (p.Val422=) rs765883060
NM_024753.5(TTC21B):c.1302T>C (p.Pro434=)
NM_024753.5(TTC21B):c.1353T>C (p.Ile451=)
NM_024753.5(TTC21B):c.1362G>A (p.Glu454=)
NM_024753.5(TTC21B):c.1380A>T (p.Pro460=) rs2105342870
NM_024753.5(TTC21B):c.1386+14G>A
NM_024753.5(TTC21B):c.1386+16A>G
NM_024753.5(TTC21B):c.1386+17C>T
NM_024753.5(TTC21B):c.1387-12del rs2105336073
NM_024753.5(TTC21B):c.1387-17T>C rs766567792
NM_024753.5(TTC21B):c.1389T>G (p.Pro463=)
NM_024753.5(TTC21B):c.141A>G (p.Thr47=)
NM_024753.5(TTC21B):c.1425G>A (p.Arg475=)
NM_024753.5(TTC21B):c.1443G>C (p.Leu481=)
NM_024753.5(TTC21B):c.1449T>C (p.Thr483=)
NM_024753.5(TTC21B):c.1449T>G (p.Thr483=)
NM_024753.5(TTC21B):c.1479A>G (p.Gln493=)
NM_024753.5(TTC21B):c.151+12T>G
NM_024753.5(TTC21B):c.151+19A>C
NM_024753.5(TTC21B):c.1512G>A (p.Leu504=) rs192305930
NM_024753.5(TTC21B):c.1516+10A>G rs2105335742
NM_024753.5(TTC21B):c.1516+12C>T rs2105335740
NM_024753.5(TTC21B):c.1517-13T>C
NM_024753.5(TTC21B):c.1517-4T>C
NM_024753.5(TTC21B):c.1517-5A>C rs769174542
NM_024753.5(TTC21B):c.1517-5A>T
NM_024753.5(TTC21B):c.1517-7T>C
NM_024753.5(TTC21B):c.152-17A>G
NM_024753.5(TTC21B):c.152-19T>C
NM_024753.5(TTC21B):c.1524T>C (p.Ile508=)
NM_024753.5(TTC21B):c.1527A>G (p.Glu509=)
NM_024753.5(TTC21B):c.1554C>T (p.Cys518=) rs1686303328
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1596A>C (p.Leu532=)
NM_024753.5(TTC21B):c.162A>G (p.Gln54=)
NM_024753.5(TTC21B):c.1677G>T (p.Val559=)
NM_024753.5(TTC21B):c.168T>C (p.Ala56=)
NM_024753.5(TTC21B):c.1848T>C (p.Arg616=)
NM_024753.5(TTC21B):c.1866A>G (p.Glu622=)
NM_024753.5(TTC21B):c.1899+15A>G
NM_024753.5(TTC21B):c.1899+18T>A
NM_024753.5(TTC21B):c.1900-16A>G
NM_024753.5(TTC21B):c.1900-4A>G
NM_024753.5(TTC21B):c.1902T>C (p.His634=)
NM_024753.5(TTC21B):c.1932C>A (p.Ile644=)
NM_024753.5(TTC21B):c.1932C>T (p.Ile644=)
NM_024753.5(TTC21B):c.1953T>C (p.Ser651=)
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=) rs1686129480
NM_024753.5(TTC21B):c.1962G>A (p.Val654=) rs1559056688
NM_024753.5(TTC21B):c.1968T>A (p.Val656=)
NM_024753.5(TTC21B):c.2052G>A (p.Gln684=)
NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)
NM_024753.5(TTC21B):c.2095C>T (p.Leu699=)
NM_024753.5(TTC21B):c.21+14_21+15insGGTGAGCT
NM_024753.5(TTC21B):c.21+18_21+29del
NM_024753.5(TTC21B):c.21+2TGAGCGGG[2] rs59477041
NM_024753.5(TTC21B):c.21+7G>T
NM_024753.5(TTC21B):c.2136T>C (p.Phe712=)
NM_024753.5(TTC21B):c.2138+18C>T
NM_024753.5(TTC21B):c.2138+20C>T
NM_024753.5(TTC21B):c.2139-14G>C
NM_024753.5(TTC21B):c.2139-18T>C
NM_024753.5(TTC21B):c.2160T>C (p.Ala720=)
NM_024753.5(TTC21B):c.2172T>C (p.Ser724=)
NM_024753.5(TTC21B):c.2181C>T (p.Leu727=) rs1293610485
NM_024753.5(TTC21B):c.219T>C (p.Ser73=)
NM_024753.5(TTC21B):c.22-16C>G
NM_024753.5(TTC21B):c.22-16C>T rs2105370679
NM_024753.5(TTC21B):c.22-20_22-19insAGACTTTGATTAA
NM_024753.5(TTC21B):c.2211+14T>C
NM_024753.5(TTC21B):c.2211+20T>C
NM_024753.5(TTC21B):c.2223C>T (p.Ala741=)
NM_024753.5(TTC21B):c.2241A>G (p.Gln747=)
NM_024753.5(TTC21B):c.2322+8C>T
NM_024753.5(TTC21B):c.2323-17G>A
NM_024753.5(TTC21B):c.2328C>T (p.Ile776=) rs916756048
NM_024753.5(TTC21B):c.2355T>C (p.Thr785=)
NM_024753.5(TTC21B):c.2385G>A (p.Leu795=)
NM_024753.5(TTC21B):c.2391G>A (p.Glu797=)
NM_024753.5(TTC21B):c.2404T>C (p.Leu802=)
NM_024753.5(TTC21B):c.2409A>G (p.Lys803=)
NM_024753.5(TTC21B):c.240C>T (p.Ala80=)
NM_024753.5(TTC21B):c.2415T>C (p.Tyr805=) rs2105318229
NM_024753.5(TTC21B):c.2436T>C (p.Leu812=)
NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly)
NM_024753.5(TTC21B):c.2445T>C (p.Ala815=)
NM_024753.5(TTC21B):c.2461+18G>A rs2105318101
NM_024753.5(TTC21B):c.2462-12A>C
NM_024753.5(TTC21B):c.2462-18_2462-17del
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2544T>C (p.Gly848=)
NM_024753.5(TTC21B):c.2553C>A (p.Ile851=)
NM_024753.5(TTC21B):c.255T>G (p.Pro85=)
NM_024753.5(TTC21B):c.2568+11T>C rs2105313535
NM_024753.5(TTC21B):c.2568+15C>G rs368590446
NM_024753.5(TTC21B):c.2568+8C>T
NM_024753.5(TTC21B):c.2568+9A>T
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2569-15A>G
NM_024753.5(TTC21B):c.2569-18T>G
NM_024753.5(TTC21B):c.2616G>A (p.Gln872=)
NM_024753.5(TTC21B):c.262+19A>G
NM_024753.5(TTC21B):c.2622T>C (p.Asp874=)
NM_024753.5(TTC21B):c.2628T>C (p.Val876=)
NM_024753.5(TTC21B):c.263-13T>C
NM_024753.5(TTC21B):c.263-16C>T
NM_024753.5(TTC21B):c.2655A>G (p.Glu885=)
NM_024753.5(TTC21B):c.2658T>C (p.Ile886=)
NM_024753.5(TTC21B):c.267A>G (p.Arg89=)
NM_024753.5(TTC21B):c.2757+11T>C
NM_024753.5(TTC21B):c.2757+14T>C
NM_024753.5(TTC21B):c.2757+7A>G
NM_024753.5(TTC21B):c.2758-11T>C rs968021831
NM_024753.5(TTC21B):c.2758-11T>G rs968021831
NM_024753.5(TTC21B):c.2758-7T>C
NM_024753.5(TTC21B):c.2772G>A (p.Leu924=)
NM_024753.5(TTC21B):c.2790A>C (p.Ala930=)
NM_024753.5(TTC21B):c.2799C>T (p.Asp933=)
NM_024753.5(TTC21B):c.2815C>A (p.Arg939=) rs151227843
NM_024753.5(TTC21B):c.2859T>C (p.Ala953=) rs993825534
NM_024753.5(TTC21B):c.2868+11G>C
NM_024753.5(TTC21B):c.2869-12T>A
NM_024753.5(TTC21B):c.2880T>C (p.Asp960=)
NM_024753.5(TTC21B):c.2892A>G (p.Arg964=)
NM_024753.5(TTC21B):c.291C>A (p.Ala97=) rs1687531560
NM_024753.5(TTC21B):c.2946G>A (p.Lys982=)
NM_024753.5(TTC21B):c.2950+18G>T rs2105301685
NM_024753.5(TTC21B):c.2950+8C>A
NM_024753.5(TTC21B):c.2951-10T>C
NM_024753.5(TTC21B):c.2951-13del
NM_024753.5(TTC21B):c.2982T>C (p.Asp994=) rs1685169233
NM_024753.5(TTC21B):c.3003A>G (p.Lys1001=)
NM_024753.5(TTC21B):c.3006C>T (p.Leu1002=)
NM_024753.5(TTC21B):c.3021A>G (p.Arg1007=)
NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)
NM_024753.5(TTC21B):c.3054A>G (p.Arg1018=)
NM_024753.5(TTC21B):c.3061T>C (p.Leu1021=)
NM_024753.5(TTC21B):c.3099T>C (p.Leu1033=)
NM_024753.5(TTC21B):c.3101+13A>G
NM_024753.5(TTC21B):c.3162C>T (p.Asp1054=) rs1574070946
NM_024753.5(TTC21B):c.3186T>C (p.Asn1062=)
NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=)
NM_024753.5(TTC21B):c.3263+17_3263+18del
NM_024753.5(TTC21B):c.3263+19T>A
NM_024753.5(TTC21B):c.3264-13T>C rs754946168
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
NM_024753.5(TTC21B):c.3264-19T>G rs775923873
NM_024753.5(TTC21B):c.3264-6A>G rs1685082857
NM_024753.5(TTC21B):c.3279G>A (p.Lys1093=)
NM_024753.5(TTC21B):c.3294A>G (p.Gln1098=)
NM_024753.5(TTC21B):c.330C>T (p.Ala110=)
NM_024753.5(TTC21B):c.3378A>G (p.Glu1126=) rs2105289408
NM_024753.5(TTC21B):c.3387C>T (p.Cys1129=) rs781212439
NM_024753.5(TTC21B):c.3414T>C (p.Asn1138=) rs2105289346
NM_024753.5(TTC21B):c.3453A>G (p.Ala1151=) rs951636516
NM_024753.5(TTC21B):c.3460-12del
NM_024753.5(TTC21B):c.3474A>G (p.Pro1158=)
NM_024753.5(TTC21B):c.3481T>C (p.Leu1161=) rs1457024463
NM_024753.5(TTC21B):c.3498T>C (p.Ala1166=) rs2105284685
NM_024753.5(TTC21B):c.3498T>G (p.Ala1166=)
NM_024753.5(TTC21B):c.3510G>A (p.Leu1170=)
NM_024753.5(TTC21B):c.3516G>A (p.Gln1172=)
NM_024753.5(TTC21B):c.3522A>T (p.Pro1174=) rs886218419
NM_024753.5(TTC21B):c.354A>G (p.Leu118=)
NM_024753.5(TTC21B):c.3624T>A (p.Ile1208=)
NM_024753.5(TTC21B):c.3627A>G (p.Gln1209=)
NM_024753.5(TTC21B):c.3642C>T (p.Asp1214=) rs2105284441
NM_024753.5(TTC21B):c.3666G>A (p.Arg1222=)
NM_024753.5(TTC21B):c.3670C>T (p.Leu1224=)
NM_024753.5(TTC21B):c.3684+8A>C rs373955678
NM_024753.5(TTC21B):c.3684+8A>G rs373955678
NM_024753.5(TTC21B):c.3685-19G>A
NM_024753.5(TTC21B):c.3685-19_3685-18dup
NM_024753.5(TTC21B):c.3690C>T (p.Cys1230=)
NM_024753.5(TTC21B):c.3717C>T (p.Tyr1239=) rs2105281091
NM_024753.5(TTC21B):c.3783C>T (p.Ser1261=) rs755467705
NM_024753.5(TTC21B):c.3804A>G (p.Val1268=) rs1684806310
NM_024753.5(TTC21B):c.3805+11C>T rs2105280892
NM_024753.5(TTC21B):c.3805+13A>T
NM_024753.5(TTC21B):c.3805+15C>T
NM_024753.5(TTC21B):c.3805+20A>G rs772796936
NM_024753.5(TTC21B):c.3805+9G>A
NM_024753.5(TTC21B):c.3806-17G>C
NM_024753.5(TTC21B):c.3846T>C (p.Tyr1282=)
NM_024753.5(TTC21B):c.384G>A (p.Arg128=)
NM_024753.5(TTC21B):c.3873+11A>C
NM_024753.5(TTC21B):c.3873+13A>G
NM_024753.5(TTC21B):c.3873+19A>G
NM_024753.5(TTC21B):c.3873+8C>T
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.3874-16T>A
NM_024753.5(TTC21B):c.3874-19T>G
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
NM_024753.5(TTC21B):c.3906C>T (p.Ile1302=)
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
NM_024753.5(TTC21B):c.3912G>A (p.Lys1304=) rs976520219
NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=) rs1060504949
NM_024753.5(TTC21B):c.3942A>G (p.Leu1314=) rs2105274083
NM_024753.5(TTC21B):c.430-15T>C
NM_024753.5(TTC21B):c.432A>G (p.Gly144=)
NM_024753.5(TTC21B):c.541C>T (p.Leu181=)
NM_024753.5(TTC21B):c.543G>C (p.Leu181=)
NM_024753.5(TTC21B):c.544C>T (p.Leu182=) rs2105363182
NM_024753.5(TTC21B):c.552+11G>C rs1687431487
NM_024753.5(TTC21B):c.553-10C>T
NM_024753.5(TTC21B):c.553-13T>C
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.553-19T>C rs2105360690
NM_024753.5(TTC21B):c.553-5A>G
NM_024753.5(TTC21B):c.573C>T (p.Arg191=)
NM_024753.5(TTC21B):c.594G>A (p.Leu198=)
NM_024753.5(TTC21B):c.600T>C (p.Thr200=)
NM_024753.5(TTC21B):c.615C>T (p.Ile205=)
NM_024753.5(TTC21B):c.645T>C (p.Phe215=)
NM_024753.5(TTC21B):c.667C>T (p.Leu223=)
NM_024753.5(TTC21B):c.69A>G (p.Leu23=)
NM_024753.5(TTC21B):c.710+17T>C
NM_024753.5(TTC21B):c.710+9A>G
NM_024753.5(TTC21B):c.711-17A>G
NM_024753.5(TTC21B):c.723A>G (p.Gln241=)
NM_024753.5(TTC21B):c.735T>C (p.Asn245=)
NM_024753.5(TTC21B):c.768T>C (p.Tyr256=)
NM_024753.5(TTC21B):c.795+10A>G rs2105348659
NM_024753.5(TTC21B):c.795+10del rs1559068659
NM_024753.5(TTC21B):c.795+19_795+22del rs2105348638
NM_024753.5(TTC21B):c.796-4T>C
NM_024753.5(TTC21B):c.796-6T>C
NM_024753.5(TTC21B):c.801C>T (p.Ser267=)
NM_024753.5(TTC21B):c.828A>G (p.Thr276=)
NM_024753.5(TTC21B):c.864C>T (p.Phe288=)
NM_024753.5(TTC21B):c.873T>C (p.Ile291=)
NM_024753.5(TTC21B):c.879C>G (p.Leu293=)
NM_024753.5(TTC21B):c.894+10C>G
NM_024753.5(TTC21B):c.894+17T>C
NM_024753.5(TTC21B):c.895-14T>A
NM_024753.5(TTC21B):c.895-17T>C rs2105344934
NM_024753.5(TTC21B):c.909A>G (p.Gln303=)
NM_024753.5(TTC21B):c.918T>C (p.Leu306=)
NM_024753.5(TTC21B):c.933G>A (p.Thr311=)
NM_024753.5(TTC21B):c.945A>G (p.Arg315=)
NM_024753.5(TTC21B):c.96G>A (p.Arg32=) rs1271448820
NM_024753.5(TTC21B):c.984A>G (p.Thr328=) rs1574121074
NM_024753.5(TTC21B):c.990T>C (p.Leu330=) rs2105344681
NM_024753.5(TTC21B):c.99T>C (p.Tyr33=)
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
NM_024809.5(TCTN2):c.1033+13T>A rs368148687
NM_024809.5(TCTN2):c.1033+18G>C
NM_024809.5(TCTN2):c.1034-12T>C
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
NM_024809.5(TCTN2):c.1099+19T>A
NM_024809.5(TCTN2):c.1099+8del
NM_024809.5(TCTN2):c.1100-18A>G
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=)
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=)
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=)
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=)
NM_024809.5(TCTN2):c.1234+7_1234+8del
NM_024809.5(TCTN2):c.1235-5T>C
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=)
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=) rs766355400
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)
NM_024809.5(TCTN2):c.1312+14_1312+15del
NM_024809.5(TCTN2):c.1312+17C>T
NM_024809.5(TCTN2):c.1313-14T>C
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
NM_024809.5(TCTN2):c.1393+8G>A
NM_024809.5(TCTN2):c.1394-5T>C
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=)
NM_024809.5(TCTN2):c.147C>A (p.Thr49=)
NM_024809.5(TCTN2):c.147C>T (p.Thr49=)
NM_024809.5(TCTN2):c.1505+13T>C rs2135849825
NM_024809.5(TCTN2):c.1505+15G>A
NM_024809.5(TCTN2):c.1506-20A>C rs1011092991
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=)
NM_024809.5(TCTN2):c.1551C>T (p.His517=)
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=) rs2135852947
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=) rs752527801
NM_024809.5(TCTN2):c.1612+12C>A
NM_024809.5(TCTN2):c.1612+14G>A
NM_024809.5(TCTN2):c.1612+15G>C
NM_024809.5(TCTN2):c.1612+16G>A
NM_024809.5(TCTN2):c.1612+9A>C
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=) rs555666775
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=)
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=)
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=) rs751298784
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=) rs557018110
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=)
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=) rs145483549
NM_024809.5(TCTN2):c.1728G>A (p.Val576=)
NM_024809.5(TCTN2):c.1769+10C>T
NM_024809.5(TCTN2):c.1769+8C>T
NM_024809.5(TCTN2):c.1769+9A>G rs528667731
NM_024809.5(TCTN2):c.1770-13del rs1566265391
NM_024809.5(TCTN2):c.1770-18G>A
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=)
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
NM_024809.5(TCTN2):c.1851C>T (p.Val617=) rs1956235464
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=) rs139902134
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=) rs1276465193
NM_024809.5(TCTN2):c.1896-11A>C rs2135862710
NM_024809.5(TCTN2):c.1896-14A>G
NM_024809.5(TCTN2):c.1896-18C>A
NM_024809.5(TCTN2):c.18G>A (p.Pro6=)
NM_024809.5(TCTN2):c.190+14C>T
NM_024809.5(TCTN2):c.191-10_191-8del rs1955759155
NM_024809.5(TCTN2):c.191-12T>G
NM_024809.5(TCTN2):c.191-19G>A
NM_024809.5(TCTN2):c.191-19G>T
NM_024809.5(TCTN2):c.191-20T>C rs2135814239
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=)
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=) rs1271806468
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=) rs950593517
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
NM_024809.5(TCTN2):c.246C>T (p.Ser82=) rs552719113
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
NM_024809.5(TCTN2):c.267+13G>A
NM_024809.5(TCTN2):c.267+17A>T rs1593828714
NM_024809.5(TCTN2):c.267+20_267+21delinsAC
NM_024809.5(TCTN2):c.267+21_267+23del rs768504261
NM_024809.5(TCTN2):c.268-15A>G
NM_024809.5(TCTN2):c.268-15A>T
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
NM_024809.5(TCTN2):c.27T>A (p.Leu9=)
NM_024809.5(TCTN2):c.27T>G (p.Leu9=) rs942739172
NM_024809.5(TCTN2):c.282G>C (p.Val94=) rs146257198
NM_024809.5(TCTN2):c.333T>C (p.Asp111=) rs534113568
NM_024809.5(TCTN2):c.357C>T (p.Ile119=) rs1335976509
NM_024809.5(TCTN2):c.463+17_463+20del
NM_024809.5(TCTN2):c.464-13G>A
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
NM_024809.5(TCTN2):c.564+11del rs767884874
NM_024809.5(TCTN2):c.564+13G>A
NM_024809.5(TCTN2):c.565-5T>G
NM_024809.5(TCTN2):c.585A>G (p.Thr195=) rs2135834132
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.660T>C (p.Ser220=) rs2135834313
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
NM_024809.5(TCTN2):c.684C>T (p.Val228=)
NM_024809.5(TCTN2):c.687C>T (p.Pro229=)
NM_024809.5(TCTN2):c.690T>C (p.Asp230=)
NM_024809.5(TCTN2):c.6C>A (p.Gly2=)
NM_024809.5(TCTN2):c.756T>C (p.His252=) rs1593847530
NM_024809.5(TCTN2):c.764+13_764+14delinsTT rs2135834618
NM_024809.5(TCTN2):c.764+17C>T
NM_024809.5(TCTN2):c.764+18C>T
NM_024809.5(TCTN2):c.764+19G>T rs371865300
NM_024809.5(TCTN2):c.764+20C>T
NM_024809.5(TCTN2):c.765-20C>G
NM_024809.5(TCTN2):c.765-9G>A
NM_024809.5(TCTN2):c.771C>A (p.Pro257=) rs2135836168
NM_024809.5(TCTN2):c.795A>G (p.Val265=)
NM_024809.5(TCTN2):c.82+15G>T
NM_024809.5(TCTN2):c.82+17A>C rs2135813322
NM_024809.5(TCTN2):c.822T>C (p.Phe274=)
NM_024809.5(TCTN2):c.83-12C>T rs2135813538
NM_024809.5(TCTN2):c.83-18C>T
NM_024809.5(TCTN2):c.852C>T (p.Pro284=) rs2135836333
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
NM_024809.5(TCTN2):c.891+12A>G
NM_024809.5(TCTN2):c.891+18A>G
NM_024809.5(TCTN2):c.891+7_891+8inv
NM_024809.5(TCTN2):c.892-18T>C rs1319716996
NM_024809.5(TCTN2):c.892-19C>G
NM_024809.5(TCTN2):c.892-7C>T rs2135839788
NM_024809.5(TCTN2):c.921C>T (p.Asn307=)
NM_024809.5(TCTN2):c.993T>C (p.Asp331=) rs2135840040
NM_025114.4(CEP290):c.1000C>T (p.Leu334=) rs2138022943
NM_025114.4(CEP290):c.1002A>T (p.Leu334=) rs757621266
NM_025114.4(CEP290):c.1005G>A (p.Arg335=) rs1043933772
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
NM_025114.4(CEP290):c.102+17T>C
NM_025114.4(CEP290):c.102+7A>T
NM_025114.4(CEP290):c.102+8A>T rs2138303509
NM_025114.4(CEP290):c.1020T>C (p.Asn340=)
NM_025114.4(CEP290):c.1026G>A (p.Gln342=)
NM_025114.4(CEP290):c.103-20T>C
NM_025114.4(CEP290):c.103-4T>G
NM_025114.4(CEP290):c.103-5C>T rs2138299257
NM_025114.4(CEP290):c.1035T>A (p.Ala345=)
NM_025114.4(CEP290):c.1044T>C (p.Ser348=)
NM_025114.4(CEP290):c.1059A>G (p.Leu353=) rs2138021415
NM_025114.4(CEP290):c.1065+11A>G
NM_025114.4(CEP290):c.1065+12_1065+14del
NM_025114.4(CEP290):c.1065+15_1065+16del
NM_025114.4(CEP290):c.1065+9T>G
NM_025114.4(CEP290):c.1066-10T>C
NM_025114.4(CEP290):c.1066-20T>A rs1472056992
NM_025114.4(CEP290):c.1066-5T>C
NM_025114.4(CEP290):c.1066-8T>A
NM_025114.4(CEP290):c.1068T>A (p.Gly356=)
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
NM_025114.4(CEP290):c.1095G>A (p.Lys365=) rs2138002953
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041
NM_025114.4(CEP290):c.1128A>G (p.Lys376=) rs2138001930
NM_025114.4(CEP290):c.1131A>G (p.Glu377=) rs1248968401
NM_025114.4(CEP290):c.1140G>A (p.Lys380=)
NM_025114.4(CEP290):c.1158A>G (p.Glu386=)
NM_025114.4(CEP290):c.1179A>G (p.Gln393=) rs2138000643
NM_025114.4(CEP290):c.1182A>G (p.Arg394=) rs2138000548
NM_025114.4(CEP290):c.1189+10T>G
NM_025114.4(CEP290):c.1189+13A>G rs2039658519
NM_025114.4(CEP290):c.1189+15A>G
NM_025114.4(CEP290):c.1189+16T>C
NM_025114.4(CEP290):c.1189+19A>G
NM_025114.4(CEP290):c.1189+19_1189+21del
NM_025114.4(CEP290):c.1189+20G>A
NM_025114.4(CEP290):c.1189+20_1189+23del rs1460774098
NM_025114.4(CEP290):c.1189+9A>G
NM_025114.4(CEP290):c.1190-10T>C rs750104849
NM_025114.4(CEP290):c.1190-15G>T
NM_025114.4(CEP290):c.1190-4G>C rs2039375104
NM_025114.4(CEP290):c.1190-6C>G
NM_025114.4(CEP290):c.1190-6C>T
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC rs2137921603
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
NM_025114.4(CEP290):c.1209A>G (p.Gln403=) rs748251474
NM_025114.4(CEP290):c.120A>G (p.Leu40=) rs2138298973
NM_025114.4(CEP290):c.1230G>A (p.Gln410=) rs2137920073
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
NM_025114.4(CEP290):c.1281T>C (p.Ala427=) rs2137918647
NM_025114.4(CEP290):c.1284A>G (p.Glu428=)
NM_025114.4(CEP290):c.1293G>A (p.Glu431=) rs1367715172
NM_025114.4(CEP290):c.1296T>C (p.Ala432=)
NM_025114.4(CEP290):c.12T>C (p.Asn4=)
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
NM_025114.4(CEP290):c.1320A>G (p.Glu440=)
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=) rs2137916151
NM_025114.4(CEP290):c.1359+13A>G
NM_025114.4(CEP290):c.1359+15C>G
NM_025114.4(CEP290):c.1359+15C>T
NM_025114.4(CEP290):c.1359+16T>C
NM_025114.4(CEP290):c.1359+18G>T
NM_025114.4(CEP290):c.1359+19T>C
NM_025114.4(CEP290):c.1359+20C>A
NM_025114.4(CEP290):c.1359+20C>T
NM_025114.4(CEP290):c.135A>G (p.Gln45=)
NM_025114.4(CEP290):c.1360-11A>G
NM_025114.4(CEP290):c.1360-14T>G
NM_025114.4(CEP290):c.1360-4T>C
NM_025114.4(CEP290):c.1360-7T>C
NM_025114.4(CEP290):c.1360-9A>C rs2137905309
NM_025114.4(CEP290):c.1360-9del
NM_025114.4(CEP290):c.1362A>G (p.Gly454=)
NM_025114.4(CEP290):c.1365A>G (p.Val455=)
NM_025114.4(CEP290):c.1371T>C (p.Gly457=)
NM_025114.4(CEP290):c.1380T>C (p.Asp460=)
NM_025114.4(CEP290):c.1386C>A (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1389T>A (p.Val463=)
NM_025114.4(CEP290):c.1392A>G (p.Glu464=)
NM_025114.4(CEP290):c.1419A>G (p.Lys473=) rs2137903473
NM_025114.4(CEP290):c.141T>C (p.Asn47=) rs1267471683
NM_025114.4(CEP290):c.1429C>A (p.Arg477=) rs1170451277
NM_025114.4(CEP290):c.1434G>A (p.Glu478=)
NM_025114.4(CEP290):c.1482T>C (p.Ser494=) rs1295495930
NM_025114.4(CEP290):c.1515G>A (p.Glu505=)
NM_025114.4(CEP290):c.1522+11T>C
NM_025114.4(CEP290):c.1522+14T>G
NM_025114.4(CEP290):c.1522+15A>C
NM_025114.4(CEP290):c.1522+20A>T
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1522+9T>C rs982222564
NM_025114.4(CEP290):c.1523-10del rs2039228878
NM_025114.4(CEP290):c.1523-13C>T
NM_025114.4(CEP290):c.1523-14G>A
NM_025114.4(CEP290):c.1523-15del rs2137876506
NM_025114.4(CEP290):c.1523-18T>C
NM_025114.4(CEP290):c.1523-19A>G
NM_025114.4(CEP290):c.1524C>T (p.Gly508=)
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=) rs763559949
NM_025114.4(CEP290):c.1599T>G (p.Ala533=) rs2137874116
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+10_1623+11dup
NM_025114.4(CEP290):c.1623+18T>C
NM_025114.4(CEP290):c.1623+7G>T rs2137873070
NM_025114.4(CEP290):c.1624-10T>C rs2137871528
NM_025114.4(CEP290):c.1624-12T>G
NM_025114.4(CEP290):c.1624-13T>C
NM_025114.4(CEP290):c.1624-13T>G
NM_025114.4(CEP290):c.1624-14T>G
NM_025114.4(CEP290):c.1624-18A>C
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1626T>A (p.Ile542=) rs762272190
NM_025114.4(CEP290):c.1635A>G (p.Leu545=)
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
NM_025114.4(CEP290):c.1650T>A (p.Leu550=)
NM_025114.4(CEP290):c.165T>A (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.165T>C (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.1668T>A (p.Ile556=) rs1458242843
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
NM_025114.4(CEP290):c.1711+13A>T
NM_025114.4(CEP290):c.1711+18A>G rs2137866354
NM_025114.4(CEP290):c.1711+7T>C
NM_025114.4(CEP290):c.1711+9A>G rs1354489737
NM_025114.4(CEP290):c.1712-20G>T
NM_025114.4(CEP290):c.1712-4A>G
NM_025114.4(CEP290):c.1712-7T>C rs1211882783
NM_025114.4(CEP290):c.1712-9TA[5] rs2137838962
NM_025114.4(CEP290):c.171A>G (p.Ser57=) rs2138297496
NM_025114.4(CEP290):c.1737A>T (p.Leu579=) rs1173906301
NM_025114.4(CEP290):c.1746C>T (p.Asn582=)
NM_025114.4(CEP290):c.174A>G (p.Leu58=) rs1257171303
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
NM_025114.4(CEP290):c.1788A>G (p.Leu596=) rs1223585284
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.1791G>A (p.Leu597=) rs1346086093
NM_025114.4(CEP290):c.1797C>A (p.Leu599=) rs2137836275
NM_025114.4(CEP290):c.1797C>G (p.Leu599=)
NM_025114.4(CEP290):c.180+10_180+11dup
NM_025114.4(CEP290):c.180+12G>T
NM_025114.4(CEP290):c.180+13T>C
NM_025114.4(CEP290):c.180+14A>T
NM_025114.4(CEP290):c.180+15G>T
NM_025114.4(CEP290):c.180+18T>G
NM_025114.4(CEP290):c.180+8T>C rs750648438
NM_025114.4(CEP290):c.181-10T>A
NM_025114.4(CEP290):c.181-17C>A
NM_025114.4(CEP290):c.181-17C>G
NM_025114.4(CEP290):c.181-18C>T
NM_025114.4(CEP290):c.181-4T>A rs773899264
NM_025114.4(CEP290):c.181-6G>A rs975947396
NM_025114.4(CEP290):c.181-7T>C rs2138267601
NM_025114.4(CEP290):c.1824+12G>A
NM_025114.4(CEP290):c.1824+14A>G
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1824+17G>A
NM_025114.4(CEP290):c.1824+18C>A
NM_025114.4(CEP290):c.1824+7G>A
NM_025114.4(CEP290):c.1824+7G>C
NM_025114.4(CEP290):c.1824+9A>G rs2137835565
NM_025114.4(CEP290):c.1825-11G>C
NM_025114.4(CEP290):c.1825-16T>C
NM_025114.4(CEP290):c.1825-17C>A rs1271533024
NM_025114.4(CEP290):c.1825-17C>T
NM_025114.4(CEP290):c.1825-19T>G
NM_025114.4(CEP290):c.1827T>C (p.Asn609=)
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1839A>T (p.Ser613=)
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
NM_025114.4(CEP290):c.1854A>G (p.Glu618=) rs1457478471
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
NM_025114.4(CEP290):c.1875G>A (p.Arg625=)
NM_025114.4(CEP290):c.1878T>C (p.Ser626=)
NM_025114.4(CEP290):c.1884A>C (p.Thr628=)
NM_025114.4(CEP290):c.1884A>G (p.Thr628=)
NM_025114.4(CEP290):c.1899T>C (p.Phe633=)
NM_025114.4(CEP290):c.1909+14A>T
NM_025114.4(CEP290):c.1909+17T>C
NM_025114.4(CEP290):c.1909+9C>G rs2038957507
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-27_1910-19del
NM_025114.4(CEP290):c.1910-4A>G
NM_025114.4(CEP290):c.1935G>A (p.Lys645=)
NM_025114.4(CEP290):c.1944A>G (p.Glu648=)
NM_025114.4(CEP290):c.1963T>C (p.Leu655=) rs2137782192
NM_025114.4(CEP290):c.1965G>A (p.Leu655=) rs2137782106
NM_025114.4(CEP290):c.1968A>G (p.Gln656=) rs2038920205
NM_025114.4(CEP290):c.1986G>A (p.Gln662=)
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
NM_025114.4(CEP290):c.2043A>G (p.Arg681=)
NM_025114.4(CEP290):c.2052+14T>C rs2137779486
NM_025114.4(CEP290):c.2052+15T>C
NM_025114.4(CEP290):c.2052+18T>A
NM_025114.4(CEP290):c.2052+8A>G
NM_025114.4(CEP290):c.2052+9T>C
NM_025114.4(CEP290):c.2053-11A>C rs2137726477
NM_025114.4(CEP290):c.2053-14T>C rs2137726582
NM_025114.4(CEP290):c.2053-14_2053-10del
NM_025114.4(CEP290):c.2053-16A>G
NM_025114.4(CEP290):c.2053-17T>C
NM_025114.4(CEP290):c.2053-20A>C
NM_025114.4(CEP290):c.2053-20A>G
NM_025114.4(CEP290):c.2053-4C>G
NM_025114.4(CEP290):c.2064A>C (p.Ser688=) rs2137725550
NM_025114.4(CEP290):c.2064A>G (p.Ser688=)
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2070T>C (p.Asn690=)
NM_025114.4(CEP290):c.2073A>C (p.Ala691=)
NM_025114.4(CEP290):c.2095C>T (p.Leu699=) rs748627817
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
NM_025114.4(CEP290):c.2163A>G (p.Glu721=) rs2137722314
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
NM_025114.4(CEP290):c.2199G>A (p.Leu733=) rs2137721385
NM_025114.4(CEP290):c.2202A>G (p.Ala734=) rs2137721256
NM_025114.4(CEP290):c.2217+17A>G rs2137720557
NM_025114.4(CEP290):c.2217+19A>G
NM_025114.4(CEP290):c.2217+7A>G
NM_025114.4(CEP290):c.2218-13T>A rs780987235
NM_025114.4(CEP290):c.2218-15G>A rs993016017
NM_025114.4(CEP290):c.2218-16G>A
NM_025114.4(CEP290):c.2218-4C>T rs2137713156
NM_025114.4(CEP290):c.2218-6T>C
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
NM_025114.4(CEP290):c.2247T>C (p.Leu749=) rs762072403
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
NM_025114.4(CEP290):c.225A>G (p.Lys75=) rs2040521242
NM_025114.4(CEP290):c.2268A>T (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2286A>G (p.Gly762=) rs1171982729
NM_025114.4(CEP290):c.228T>C (p.Ala76=)
NM_025114.4(CEP290):c.2293T>C (p.Leu765=)
NM_025114.4(CEP290):c.2301T>C (p.Asp767=)
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
NM_025114.4(CEP290):c.2328C>T (p.Ile776=) rs2137708829
NM_025114.4(CEP290):c.2337T>G (p.Ser779=)
NM_025114.4(CEP290):c.2361G>A (p.Leu787=) rs1337194775
NM_025114.4(CEP290):c.2367+10A>G
NM_025114.4(CEP290):c.2367+8A>G rs1373970415
NM_025114.4(CEP290):c.2367+9A>C
NM_025114.4(CEP290):c.2368-10del rs2137665854
NM_025114.4(CEP290):c.2368-16C>A
NM_025114.4(CEP290):c.2368-19T>C rs2137665948
NM_025114.4(CEP290):c.2368-4T>A rs2137665617
NM_025114.4(CEP290):c.2368-5_2368-4del
NM_025114.4(CEP290):c.2368-8C>T
NM_025114.4(CEP290):c.2371C>T (p.Leu791=) rs2137665532
NM_025114.4(CEP290):c.2373A>G (p.Leu791=) rs760126835
NM_025114.4(CEP290):c.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2418A>G (p.Glu806=) rs2137663910
NM_025114.4(CEP290):c.2428A>C (p.Arg810=) rs2137663513
NM_025114.4(CEP290):c.243A>T (p.Ala81=)
NM_025114.4(CEP290):c.2466G>A (p.Leu822=) rs2137662331
NM_025114.4(CEP290):c.246A>G (p.Lys82=) rs761233532
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
NM_025114.4(CEP290):c.2483+10T>G rs1327914633
NM_025114.4(CEP290):c.2483+13G>A
NM_025114.4(CEP290):c.2483+15A>G
NM_025114.4(CEP290):c.2483+19C>T
NM_025114.4(CEP290):c.2483+7G>T rs886038692
NM_025114.4(CEP290):c.2484-12T>C
NM_025114.4(CEP290):c.2484-18G>A
NM_025114.4(CEP290):c.2484-18GTTTT[2] rs745522483
NM_025114.4(CEP290):c.2484-18GTTTT[5] rs745522483
NM_025114.4(CEP290):c.2484-8G>A rs1436691712
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+11T>A
NM_025114.4(CEP290):c.250+13G>A
NM_025114.4(CEP290):c.250+14A>G
NM_025114.4(CEP290):c.250+16A>G
NM_025114.4(CEP290):c.250+9C>G rs2040519029
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-20del rs879405859
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.251-4dup
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
NM_025114.4(CEP290):c.2544G>A (p.Glu848=) rs1201358340
NM_025114.4(CEP290):c.2547T>C (p.Asp849=) rs1417219342
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
NM_025114.4(CEP290):c.2574A>G (p.Val858=) rs768235992
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
NM_025114.4(CEP290):c.2586+20C>A
NM_025114.4(CEP290):c.2587-10C>G rs2137619649
NM_025114.4(CEP290):c.2587-14G>T
NM_025114.4(CEP290):c.2587-16A>T
NM_025114.4(CEP290):c.2587-17G>A
NM_025114.4(CEP290):c.2587-20A>G
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
NM_025114.4(CEP290):c.2640A>C (p.Ala880=) rs2137617832
NM_025114.4(CEP290):c.2646T>C (p.Asn882=) rs2038318253
NM_025114.4(CEP290):c.2652G>A (p.Arg884=) rs2137617412
NM_025114.4(CEP290):c.2655A>G (p.Lys885=)
NM_025114.4(CEP290):c.2661T>C (p.Thr887=) rs2137617168
NM_025114.4(CEP290):c.2673G>A (p.Val891=)
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
NM_025114.4(CEP290):c.2694G>A (p.Arg898=) rs2038314186
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2706C>G (p.Thr902=)
NM_025114.4(CEP290):c.2730T>C (p.Leu910=)
NM_025114.4(CEP290):c.273A>G (p.Val91=) rs768434171
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
NM_025114.4(CEP290):c.2763G>A (p.Leu921=) rs760283430
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
NM_025114.4(CEP290):c.2817+10A>G
NM_025114.4(CEP290):c.2817+10A>T rs2137611795
NM_025114.4(CEP290):c.2817+14T>C
NM_025114.4(CEP290):c.2817+16A>G
NM_025114.4(CEP290):c.2817+17T>C
NM_025114.4(CEP290):c.2817+17T>G
NM_025114.4(CEP290):c.2817+19T>A
NM_025114.4(CEP290):c.2818-10A>G rs2137544573
NM_025114.4(CEP290):c.2818-14C>A
NM_025114.4(CEP290):c.2818-14C>T
NM_025114.4(CEP290):c.2818-15T>A
NM_025114.4(CEP290):c.2818-20G>A
NM_025114.4(CEP290):c.2818-4A>G rs2137544449
NM_025114.4(CEP290):c.2818-6A>G
NM_025114.4(CEP290):c.2826C>T (p.Ala942=) rs1456663660
NM_025114.4(CEP290):c.282G>A (p.Leu94=)
NM_025114.4(CEP290):c.2841A>T (p.Ala947=) rs1252435155
NM_025114.4(CEP290):c.2844T>A (p.Ala948=) rs2137543585
NM_025114.4(CEP290):c.2847C>T (p.Leu949=)
NM_025114.4(CEP290):c.2853A>G (p.Lys951=) rs2038009620
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
NM_025114.4(CEP290):c.2890C>T (p.Leu964=) rs1237834262
NM_025114.4(CEP290):c.2898T>C (p.Asn966=) rs2137542191
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2931G>A (p.Arg977=)
NM_025114.4(CEP290):c.2934C>T (p.Asp978=) rs2038000673
NM_025114.4(CEP290):c.2952T>C (p.Asn984=) rs1007548055
NM_025114.4(CEP290):c.2965A>C (p.Arg989=) rs2037997734
NM_025114.4(CEP290):c.297+10T>C rs2138257173
NM_025114.4(CEP290):c.297+11T>C
NM_025114.4(CEP290):c.297+8T>A rs2138257277
NM_025114.4(CEP290):c.297+9T>C rs2138257225
NM_025114.4(CEP290):c.298-15G>A
NM_025114.4(CEP290):c.298-16G>A rs531851010
NM_025114.4(CEP290):c.298-16G>C rs531851010
NM_025114.4(CEP290):c.298-16G>T
NM_025114.4(CEP290):c.298-20T>G
NM_025114.4(CEP290):c.298-7C>T rs2040376906
NM_025114.4(CEP290):c.2986C>T (p.Leu996=) rs759867592
NM_025114.4(CEP290):c.2991+17C>T
NM_025114.4(CEP290):c.2991+20G>T
NM_025114.4(CEP290):c.2992-10C>G rs2137426807
NM_025114.4(CEP290):c.2992-11C>T
NM_025114.4(CEP290):c.2992-17A>G
NM_025114.4(CEP290):c.2992-18T>C
NM_025114.4(CEP290):c.2992-20del
NM_025114.4(CEP290):c.2992-6dup rs2137426720
NM_025114.4(CEP290):c.2992-7T>C
NM_025114.4(CEP290):c.2997A>G (p.Glu999=) rs2137426535
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=)
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=) rs2137424983
NM_025114.4(CEP290):c.303T>C (p.Ala101=) rs2040376122
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=) rs2137424685
NM_025114.4(CEP290):c.3066C>T (p.His1022=)
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=)
NM_025114.4(CEP290):c.309G>A (p.Gln103=)
NM_025114.4(CEP290):c.30A>C (p.Ile10=)
NM_025114.4(CEP290):c.3103+13A>G
NM_025114.4(CEP290):c.3103+15T>C
NM_025114.4(CEP290):c.3103+17T>C
NM_025114.4(CEP290):c.3103+19A>G
NM_025114.4(CEP290):c.3104-11A>T
NM_025114.4(CEP290):c.3104-14A>G
NM_025114.4(CEP290):c.3104-16A>G
NM_025114.4(CEP290):c.3104-8G>A
NM_025114.4(CEP290):c.3104-8G>T
NM_025114.4(CEP290):c.3104-9T>C
NM_025114.4(CEP290):c.312T>G (p.Ser104=) rs2138217275
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=) rs2037238077
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=) rs779569679
NM_025114.4(CEP290):c.315A>G (p.Ala105=)
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=) rs2137366862
NM_025114.4(CEP290):c.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=) rs1592539040
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=) rs780870106
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=)
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=) rs2137363882
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=) rs1277434581
NM_025114.4(CEP290):c.3309+14A>C
NM_025114.4(CEP290):c.3309+16T>G
NM_025114.4(CEP290):c.3309+19T>C
NM_025114.4(CEP290):c.3309+8A>T rs2137362040
NM_025114.4(CEP290):c.3310-13T>A
NM_025114.4(CEP290):c.3310-5C>A rs2137345196
NM_025114.4(CEP290):c.3310-6C>T rs774139392
NM_025114.4(CEP290):c.3310-7del rs2037151700
NM_025114.4(CEP290):c.3315C>T (p.Thr1105=)
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=)
NM_025114.4(CEP290):c.333G>T (p.Arg111=) rs2138216422
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=) rs1291200387
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=) rs2137341818
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=) rs2137341183
NM_025114.4(CEP290):c.3461+10T>A
NM_025114.4(CEP290):c.3461+14A>T rs1469392631
NM_025114.4(CEP290):c.3461+15G>A rs2137340039
NM_025114.4(CEP290):c.3461+17A>G
NM_025114.4(CEP290):c.3461+7G>T rs1565852636
NM_025114.4(CEP290):c.3461+8C>T rs1370236429
NM_025114.4(CEP290):c.3461+9A>G
NM_025114.4(CEP290):c.3462-10C>A rs2137305901
NM_025114.4(CEP290):c.3462-12A>T
NM_025114.4(CEP290):c.3462-16C>T
NM_025114.4(CEP290):c.3462-18T>C
NM_025114.4(CEP290):c.3462-19del
NM_025114.4(CEP290):c.3462-5C>T rs2036980891
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=) rs2137305444
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=) rs756488924
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=) rs2137302632
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=)
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=) rs760639256
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=)
NM_025114.4(CEP290):c.354C>T (p.Cys118=) rs370725951
NM_025114.4(CEP290):c.3552A>G (p.Arg1184=) rs2137302452
NM_025114.4(CEP290):c.3558A>G (p.Gln1186=) rs1189042096
NM_025114.4(CEP290):c.3573+10G>T
NM_025114.4(CEP290):c.3573+13T>C rs2137301378
NM_025114.4(CEP290):c.3573+17C>A
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3574-15T>G rs565414938
NM_025114.4(CEP290):c.3574-16_3574-15insA
NM_025114.4(CEP290):c.3574-17A>G
NM_025114.4(CEP290):c.3574-19A>G rs2137281532
NM_025114.4(CEP290):c.3574-20T>A
NM_025114.4(CEP290):c.3574-5A>G rs2036853648
NM_025114.4(CEP290):c.3574-7A>T
NM_025114.4(CEP290):c.3574-7del
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
NM_025114.4(CEP290):c.3624C>T (p.Val1208=) rs1331516324
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=)
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=)
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=)
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=) rs968207045
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=)
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=)
NM_025114.4(CEP290):c.3708G>A (p.Leu1236=)
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=) rs1592856911
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=)
NM_025114.4(CEP290):c.372A>G (p.Leu124=)
NM_025114.4(CEP290):c.3732A>G (p.Glu1244=) rs2137277122
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=) rs2137276523
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=) rs370395204
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=) rs1405878362
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=)
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=)
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=)
NM_025114.4(CEP290):c.3855G>A (p.Lys1285=) rs766410040
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=) rs1387223378
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=) rs2137272114
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=)
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=) rs2137271829
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=) rs2137271264
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
NM_025114.4(CEP290):c.3921T>C (p.Ser1307=) rs369567962
NM_025114.4(CEP290):c.3924A>G (p.Gln1308=) rs2036816675
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=) rs775663498
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=) rs1367935035
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=) rs1224624148
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=)
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
NM_025114.4(CEP290):c.4029+14C>T
NM_025114.4(CEP290):c.4029+17G>A
NM_025114.4(CEP290):c.4029+17G>C
NM_025114.4(CEP290):c.4029+17G>T
NM_025114.4(CEP290):c.4029+7A>G
NM_025114.4(CEP290):c.4030-11G>A
NM_025114.4(CEP290):c.4030-14A>T
NM_025114.4(CEP290):c.4030-5del rs2137252186
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=) rs2137251909
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=) rs1031453040
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=) rs2137250800
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=) rs181121175
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=) rs1190210677
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=) rs2137249532
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=) rs2137248717
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=) rs2137248362
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=) rs2137248119
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=)
NM_025114.4(CEP290):c.4194+10T>C
NM_025114.4(CEP290):c.4194+11A>G
NM_025114.4(CEP290):c.4194+11A>T
NM_025114.4(CEP290):c.4194+13A>G
NM_025114.4(CEP290):c.4194+16T>C
NM_025114.4(CEP290):c.4194+17A>T
NM_025114.4(CEP290):c.4194+19T>G
NM_025114.4(CEP290):c.4194+8T>G
NM_025114.4(CEP290):c.4194+8_4194+12del rs1223134777
NM_025114.4(CEP290):c.4195-13G>A
NM_025114.4(CEP290):c.4195-18A>G
NM_025114.4(CEP290):c.4195-19C>A
NM_025114.4(CEP290):c.4195-5T>C rs1014066992
NM_025114.4(CEP290):c.4195-8T>C rs2137221868
NM_025114.4(CEP290):c.4200T>C (p.His1400=) rs2137221395
NM_025114.4(CEP290):c.4224T>C (p.Asp1408=) rs2137220817
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=)
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=)
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=)
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=) rs2137219486
NM_025114.4(CEP290):c.4285C>T (p.Leu1429=) rs2137218765
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=) rs2137218338
NM_025114.4(CEP290):c.4302+10A>G
NM_025114.4(CEP290):c.4302+12T>G
NM_025114.4(CEP290):c.4302+13A>G
NM_025114.4(CEP290):c.4302+19G>A
NM_025114.4(CEP290):c.4302+8T>C
NM_025114.4(CEP290):c.4302+9G>C rs2137217907
NM_025114.4(CEP290):c.4303-12A>G
NM_025114.4(CEP290):c.4303-16T>C
NM_025114.4(CEP290):c.4303-18C>A
NM_025114.4(CEP290):c.4303-18C>T
NM_025114.4(CEP290):c.4303-6T>C
NM_025114.4(CEP290):c.4303-7T>C
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=) rs138095601
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=)
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
NM_025114.4(CEP290):c.435T>C (p.Asn145=) rs2040367783
NM_025114.4(CEP290):c.4365C>A (p.Ile1455=) rs552731286
NM_025114.4(CEP290):c.4371A>G (p.Leu1457=) rs2137212322
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
NM_025114.4(CEP290):c.438G>A (p.Glu146=) rs2138213152
NM_025114.4(CEP290):c.4402C>T (p.Leu1468=) rs1565838540
NM_025114.4(CEP290):c.4407A>G (p.Glu1469=) rs2137211343
NM_025114.4(CEP290):c.441+11T>C
NM_025114.4(CEP290):c.441+15T>G
NM_025114.4(CEP290):c.442-14_442-11del
NM_025114.4(CEP290):c.442-17T>A rs2040048473
NM_025114.4(CEP290):c.442-18T>C
NM_025114.4(CEP290):c.442-19T>C rs113132803
NM_025114.4(CEP290):c.442-19_442-18insA
NM_025114.4(CEP290):c.442-20T>A
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.442-7A>G rs1252546173
NM_025114.4(CEP290):c.442-8T>G
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4429C>T (p.Leu1477=) rs2137210634
NM_025114.4(CEP290):c.4437+10A>C
NM_025114.4(CEP290):c.4437+11G>T
NM_025114.4(CEP290):c.4437+17G>A
NM_025114.4(CEP290):c.4437+7A>T rs2137210220
NM_025114.4(CEP290):c.4438-10A>C
NM_025114.4(CEP290):c.4438-12T>C
NM_025114.4(CEP290):c.4438-13_4438-9del
NM_025114.4(CEP290):c.4438-17T>C
NM_025114.4(CEP290):c.4438-4G>T rs2036460485
NM_025114.4(CEP290):c.4438-8_4438-7del rs2137190016
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=) rs2036459644
NM_025114.4(CEP290):c.4446A>G (p.Lys1482=)
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=)
NM_025114.4(CEP290):c.447T>A (p.Ala149=) rs2138114644
NM_025114.4(CEP290):c.447T>C (p.Ala149=)
NM_025114.4(CEP290):c.447T>G (p.Ala149=)
NM_025114.4(CEP290):c.4482T>C (p.Asn1494=) rs2137188752
NM_025114.4(CEP290):c.4486C>T (p.Leu1496=) rs1026690396
NM_025114.4(CEP290):c.4488G>A (p.Leu1496=) rs2137188485
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=) rs1592837830
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=) rs1177088224
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=)
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=) rs750049263
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=)
NM_025114.4(CEP290):c.4542A>G (p.Glu1514=) rs765011862
NM_025114.4(CEP290):c.4548A>G (p.Glu1516=) rs2137186609
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=)
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.45A>G (p.Pro15=) rs1383191175
NM_025114.4(CEP290):c.4603T>C (p.Leu1535=)
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=) rs2137183853
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=) rs2137183393
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=) rs2137183194
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
NM_025114.4(CEP290):c.4683T>A (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.4683T>C (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.468A>G (p.Glu156=) rs967600444
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=) rs2137181983
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=) rs2137181574
NM_025114.4(CEP290):c.4704+11A>T
NM_025114.4(CEP290):c.4704+12T>C rs2137181292
NM_025114.4(CEP290):c.4704+13_4704+17del
NM_025114.4(CEP290):c.4704+19A>C
NM_025114.4(CEP290):c.4704+7T>C
NM_025114.4(CEP290):c.4705-12T>C
NM_025114.4(CEP290):c.4705-15T>C
NM_025114.4(CEP290):c.4705-17G>A
NM_025114.4(CEP290):c.4705-19T>G
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4758C>T (p.His1586=) rs896218309
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=)
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=)
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=) rs775682517
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=) rs760100036
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4812+15A>T rs1011820485
NM_025114.4(CEP290):c.4812+18_4812+19del rs1362916745
NM_025114.4(CEP290):c.4813-10T>C
NM_025114.4(CEP290):c.4813-11A>G
NM_025114.4(CEP290):c.4813-4A>G rs2036324053
NM_025114.4(CEP290):c.4813-5T>C rs2137156921
NM_025114.4(CEP290):c.4813-7T>A rs2137156966
NM_025114.4(CEP290):c.4813-9A>G
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=) rs2137156688
NM_025114.4(CEP290):c.4833C>T (p.Pro1611=) rs763271689
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=) rs1179886652
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=) rs2137153390
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
NM_025114.4(CEP290):c.4947A>G (p.Gln1649=) rs2137152427
NM_025114.4(CEP290):c.495+16A>G
NM_025114.4(CEP290):c.495+7A>T rs2138113223
NM_025114.4(CEP290):c.495+9T>A
NM_025114.4(CEP290):c.495+9T>G rs2138113170
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=)
NM_025114.4(CEP290):c.496-12C>T rs2138102416
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
NM_025114.4(CEP290):c.5010A>G (p.Leu1670=)
NM_025114.4(CEP290):c.5012+13A>G
NM_025114.4(CEP290):c.5012+19T>C
NM_025114.4(CEP290):c.5012+20T>A
NM_025114.4(CEP290):c.5012+20T>C
NM_025114.4(CEP290):c.5012+7C>A
NM_025114.4(CEP290):c.5012+7_5012+8del rs2137150584
NM_025114.4(CEP290):c.5013-17_5013-16del rs774225453
NM_025114.4(CEP290):c.5013-19A>G
NM_025114.4(CEP290):c.5013-20C>T rs1299195353
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013-30CA[7]
NM_025114.4(CEP290):c.5013-6C>T rs2137107114
NM_025114.4(CEP290):c.5013-7A>G rs762217156
NM_025114.4(CEP290):c.5040G>A (p.Val1680=) rs2137106401
NM_025114.4(CEP290):c.504T>C (p.Arg168=) rs2138101728
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=)
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=) rs2137105805
NM_025114.4(CEP290):c.507A>G (p.Leu169=) rs2138101663
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=) rs2137104806
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=) rs2137104709
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=) rs2137104323
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=) rs1215659876
NM_025114.4(CEP290):c.516+10T>G rs2138101103
NM_025114.4(CEP290):c.516+12A>C
NM_025114.4(CEP290):c.516+13G>A
NM_025114.4(CEP290):c.516+15G>A
NM_025114.4(CEP290):c.516+19T>A
NM_025114.4(CEP290):c.516+9T>C rs771222198
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=) rs970862392
NM_025114.4(CEP290):c.517-18G>T
NM_025114.4(CEP290):c.517-5T>G
NM_025114.4(CEP290):c.517-6C>T
NM_025114.4(CEP290):c.5178A>G (p.Leu1726=) rs2137102455
NM_025114.4(CEP290):c.5181A>G (p.Val1727=) rs1002651698
NM_025114.4(CEP290):c.5187G>A (p.Arg1729=)
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=) rs1203367950
NM_025114.4(CEP290):c.5193G>A (p.Lys1731=) rs2137101998
NM_025114.4(CEP290):c.519T>C (p.Asn173=)
NM_025114.4(CEP290):c.51C>T (p.Asp17=) rs2138305629
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=)
NM_025114.4(CEP290):c.5226+11_5226+13del
NM_025114.4(CEP290):c.5226+12_5226+16del
NM_025114.4(CEP290):c.5226+18A>C
NM_025114.4(CEP290):c.5226+7A>G rs2036089729
NM_025114.4(CEP290):c.5226+7_5226+8insGAC rs2036089498
NM_025114.4(CEP290):c.5226+9C>G rs2137100623
NM_025114.4(CEP290):c.5226+9C>T
NM_025114.4(CEP290):c.5227-13G>C
NM_025114.4(CEP290):c.5227-15T>G
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5227-4T>G rs2137083466
NM_025114.4(CEP290):c.5236C>A (p.Arg1746=) rs774427529
NM_025114.4(CEP290):c.5241A>C (p.Ala1747=)
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
NM_025114.4(CEP290):c.5254C>A (p.Arg1752=) rs748471942
NM_025114.4(CEP290):c.5259A>G (p.Ala1753=)
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
NM_025114.4(CEP290):c.52C>T (p.Leu18=) rs2138305571
NM_025114.4(CEP290):c.5301T>G (p.Thr1767=) rs891496300
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
NM_025114.4(CEP290):c.5340T>C (p.Val1780=) rs2137080571
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
NM_025114.4(CEP290):c.5364+14C>A
NM_025114.4(CEP290):c.5364+15G>A
NM_025114.4(CEP290):c.5364+17G>A
NM_025114.4(CEP290):c.5364+8T>A rs2137079741
NM_025114.4(CEP290):c.5364+8T>G
NM_025114.4(CEP290):c.5364+9C>T rs2137079700
NM_025114.4(CEP290):c.5365-12T>G
NM_025114.4(CEP290):c.5365-17dup
NM_025114.4(CEP290):c.5365-8C>T
NM_025114.4(CEP290):c.5365-9T>C
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
NM_025114.4(CEP290):c.5439C>T (p.Asn1813=) rs2137059444
NM_025114.4(CEP290):c.5445A>C (p.Leu1815=) rs1401075815
NM_025114.4(CEP290):c.5455T>C (p.Leu1819=)
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=) rs2035884341
NM_025114.4(CEP290):c.555A>G (p.Lys185=) rs2138097181
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
NM_025114.4(CEP290):c.5586+12T>C
NM_025114.4(CEP290):c.5586+14T>G
NM_025114.4(CEP290):c.5586+17C>T rs2137055900
NM_025114.4(CEP290):c.5586+19C>T
NM_025114.4(CEP290):c.5587-10T>A rs1592805772
NM_025114.4(CEP290):c.5587-12T>G
NM_025114.4(CEP290):c.5587-15C>T
NM_025114.4(CEP290):c.5587-16dup
NM_025114.4(CEP290):c.5587-19G>A
NM_025114.4(CEP290):c.5587-7T>A
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=) rs2137050526
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
NM_025114.4(CEP290):c.5676G>A (p.Val1892=) rs2137049568
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
NM_025114.4(CEP290):c.5709+12A>T
NM_025114.4(CEP290):c.5709+14C>A
NM_025114.4(CEP290):c.5709+17A>C
NM_025114.4(CEP290):c.5709+7G>A
NM_025114.4(CEP290):c.5710-13G>A
NM_025114.4(CEP290):c.5710-18C>G
NM_025114.4(CEP290):c.5710-7_5710-5del
NM_025114.4(CEP290):c.5710-9T>C
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=) rs2136964688
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=) rs2136964084
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=) rs1195022621
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=) rs2136963237
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=)
NM_025114.4(CEP290):c.5855+11A>C
NM_025114.4(CEP290):c.5855+11A>G
NM_025114.4(CEP290):c.5855+18T>A
NM_025114.4(CEP290):c.5855+18_5855+20del rs1442503417
NM_025114.4(CEP290):c.5856-13T>C
NM_025114.4(CEP290):c.5856-14A>G
NM_025114.4(CEP290):c.5856-16A>C
NM_025114.4(CEP290):c.5856-16A>G
NM_025114.4(CEP290):c.5856-16A>T rs372444243
NM_025114.4(CEP290):c.585A>G (p.Leu195=) rs2138096227
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=) rs2136957684
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=) rs2136957326
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=) rs2035355059
NM_025114.4(CEP290):c.6011+13G>T
NM_025114.4(CEP290):c.6011+14_6011+15del rs1565811649
NM_025114.4(CEP290):c.6011+15G>A
NM_025114.4(CEP290):c.6011+7dup
NM_025114.4(CEP290):c.6011+8A>G
NM_025114.4(CEP290):c.6012-11G>A
NM_025114.4(CEP290):c.6012-13_6012-12insA
NM_025114.4(CEP290):c.6012-14A>G
NM_025114.4(CEP290):c.6012-18T>C rs2035130236
NM_025114.4(CEP290):c.6012-4A>C rs760029406
NM_025114.4(CEP290):c.6012-4A>G
NM_025114.4(CEP290):c.6012-5C>A
NM_025114.4(CEP290):c.6012-9T>C rs2136914044
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
NM_025114.4(CEP290):c.6042T>C (p.Val2014=) rs2035125225
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=) rs2136912612
NM_025114.4(CEP290):c.6057T>C (p.His2019=)
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=) rs2035122755
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=) rs2136911467
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=) rs1592770859
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=)
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=) rs752291080
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=) rs754426182
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=) rs766265410
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6135+13C>G
NM_025114.4(CEP290):c.6135+15T>C
NM_025114.4(CEP290):c.6135+19T>C
NM_025114.4(CEP290):c.6135+9A>C
NM_025114.4(CEP290):c.6135+9A>G
NM_025114.4(CEP290):c.6136-13C>A
NM_025114.4(CEP290):c.6136-6C>G
NM_025114.4(CEP290):c.6136-8C>T
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=) rs1565798798
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=) rs2136814010
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=) rs1327169453
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=) rs2136812192
NM_025114.4(CEP290):c.6270+12G>A
NM_025114.4(CEP290):c.6270+17T>G rs1473886719
NM_025114.4(CEP290):c.6270+19del
NM_025114.4(CEP290):c.6270+9A>G rs2136811401
NM_025114.4(CEP290):c.6271-11T>C
NM_025114.4(CEP290):c.6271-13T>G
NM_025114.4(CEP290):c.6271-16G>A
NM_025114.4(CEP290):c.6271-9A>T
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=) rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=) rs1213494233
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=) rs1475220538
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
NM_025114.4(CEP290):c.6351T>C (p.Val2117=) rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=) rs762397066
NM_025114.4(CEP290):c.6357+11A>C
NM_025114.4(CEP290):c.6357+16C>T
NM_025114.4(CEP290):c.6357+17C>T
NM_025114.4(CEP290):c.6357+20A>G
NM_025114.4(CEP290):c.6357+9_6357+14del
NM_025114.4(CEP290):c.6358-11T>C
NM_025114.4(CEP290):c.6358-13T>C rs1355948965
NM_025114.4(CEP290):c.6358-14A>G
NM_025114.4(CEP290):c.6358-16del
NM_025114.4(CEP290):c.6358-18_6358-15del
NM_025114.4(CEP290):c.6358-20T>C
NM_025114.4(CEP290):c.6358-6T>C
NM_025114.4(CEP290):c.6358-7T>C rs1323070560
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=) rs2136752914
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=) rs750473077
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
NM_025114.4(CEP290):c.6420A>G (p.Val2140=) rs2034432859
NM_025114.4(CEP290):c.642G>A (p.Glu214=) rs2138094419
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=) rs2034427417
NM_025114.4(CEP290):c.648C>A (p.Ile216=) rs748527265
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
NM_025114.4(CEP290):c.6522+13A>T
NM_025114.4(CEP290):c.6522+13_6522+14insC
NM_025114.4(CEP290):c.6522+14_6522+15insC
NM_025114.4(CEP290):c.6522+16G>A
NM_025114.4(CEP290):c.6522+18G>C
NM_025114.4(CEP290):c.6522+19A>T
NM_025114.4(CEP290):c.6522+6_6522+7insC
NM_025114.4(CEP290):c.6522+8_6522+9insA
NM_025114.4(CEP290):c.6523-12T>C rs761172645
NM_025114.4(CEP290):c.6523-12T>G
NM_025114.4(CEP290):c.6523-13G>T
NM_025114.4(CEP290):c.6523-13_6523-10del rs779782832
NM_025114.4(CEP290):c.6523-14T>C
NM_025114.4(CEP290):c.6523-14T>G
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6523-18T>C
NM_025114.4(CEP290):c.6523-18T>G rs954082831
NM_025114.4(CEP290):c.6523-22_6523-18del rs2034347330
NM_025114.4(CEP290):c.6523-8T>C
NM_025114.4(CEP290):c.6523-9T>G
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=) rs2136727209
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=) rs2136725980
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
NM_025114.4(CEP290):c.6645+7C>T rs762527255
NM_025114.4(CEP290):c.6646-10T>C rs2136707145
NM_025114.4(CEP290):c.6646-16del
NM_025114.4(CEP290):c.6646-17T>C
NM_025114.4(CEP290):c.6646-4A>G
NM_025114.4(CEP290):c.6646-9T>C
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
NM_025114.4(CEP290):c.669+15A>G
NM_025114.4(CEP290):c.669+16G>A rs1408808578
NM_025114.4(CEP290):c.669+20A>T
NM_025114.4(CEP290):c.669+6dup rs761225874
NM_025114.4(CEP290):c.669+8G>A rs768408897
NM_025114.4(CEP290):c.669+9G>A rs746701712
NM_025114.4(CEP290):c.669+9G>T rs746701712
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=) rs2136706174
NM_025114.4(CEP290):c.670-13T>C
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.670-7T>G
NM_025114.4(CEP290):c.670-9C>T
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=) rs1293521533
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=) rs2136705270
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=) rs2136704965
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=) rs750070359
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=) rs775553764
NM_025114.4(CEP290):c.6818+10G>C
NM_025114.4(CEP290):c.6818+20C>T
NM_025114.4(CEP290):c.6819-10A>C rs150241790
NM_025114.4(CEP290):c.6819-11T>C rs2136657156
NM_025114.4(CEP290):c.6819-5T>A
NM_025114.4(CEP290):c.6819-6T>C rs2136656943
NM_025114.4(CEP290):c.6819-7C>T
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=) rs2136656585
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=) rs1592725976
NM_025114.4(CEP290):c.687T>C (p.Asn229=) rs2138087198
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=) rs2033935023
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=) rs2136654318
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=) rs2136653946
NM_025114.4(CEP290):c.6960+14T>G
NM_025114.4(CEP290):c.6960+9C>A
NM_025114.4(CEP290):c.6960+9_6960+13del
NM_025114.4(CEP290):c.6961-10G>A
NM_025114.4(CEP290):c.6961-12T>C
NM_025114.4(CEP290):c.6961-18T>C
NM_025114.4(CEP290):c.6961-5dup rs2033832669
NM_025114.4(CEP290):c.6961-6T>C rs768947002
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=) rs2136637133
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=)
NM_025114.4(CEP290):c.6978T>C (p.His2326=) rs775641877
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=) rs2136636831
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=) rs2136636592
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.7034+13_7034+15del
NM_025114.4(CEP290):c.7034+19T>A
NM_025114.4(CEP290):c.7034+19T>C
NM_025114.4(CEP290):c.7034+8A>C rs1209334887
NM_025114.4(CEP290):c.7034+8A>G
NM_025114.4(CEP290):c.7035-11T>C
NM_025114.4(CEP290):c.7035-12A>G
NM_025114.4(CEP290):c.7035-14T>C
NM_025114.4(CEP290):c.7035-15A>G
NM_025114.4(CEP290):c.7035-18A>G
NM_025114.4(CEP290):c.7035-19C>T
NM_025114.4(CEP290):c.7035-7G>T
NM_025114.4(CEP290):c.7035-9G>A rs2136625815
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
NM_025114.4(CEP290):c.7129+10T>C rs2136623387
NM_025114.4(CEP290):c.7129+13A>T
NM_025114.4(CEP290):c.7129+20A>G
NM_025114.4(CEP290):c.7129+20_7129+21del
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.7129+9T>G
NM_025114.4(CEP290):c.7130-18G>A
NM_025114.4(CEP290):c.7130-18G>C rs1258894576
NM_025114.4(CEP290):c.7130-6C>G
NM_025114.4(CEP290):c.7130-6C>T rs1267739576
NM_025114.4(CEP290):c.7130-8_7130-7del rs1555193620
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=) rs1419407850
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=) rs2136564522
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=) rs1373327829
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+11_7209+16del rs1480154927
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del
NM_025114.4(CEP290):c.7209+9_7209+13del
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) rs1592705118
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) rs2136547270
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) rs2136546932
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
NM_025114.4(CEP290):c.729A>G (p.Leu243=) rs1349591192
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) rs2136545903
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=) rs1592704594
NM_025114.4(CEP290):c.732A>G (p.Glu244=) rs2138086280
NM_025114.4(CEP290):c.7335A>C (p.Val2445=)
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) rs2136544711
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)
NM_025114.4(CEP290):c.741A>G (p.Val247=) rs2138085914
NM_025114.4(CEP290):c.7422T>C (p.Val2474=)
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=) rs2136543130
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=) rs2136542833
NM_025114.4(CEP290):c.75A>G (p.Ala25=) rs2138304637
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
NM_025114.4(CEP290):c.792G>A (p.Val264=)
NM_025114.4(CEP290):c.810A>G (p.Val270=)
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
NM_025114.4(CEP290):c.852+10A>C rs1191374264
NM_025114.4(CEP290):c.852+10A>G rs1191374264
NM_025114.4(CEP290):c.852+11C>A
NM_025114.4(CEP290):c.852+16A>G rs2138082584
NM_025114.4(CEP290):c.852+17G>A
NM_025114.4(CEP290):c.852+7A>G
NM_025114.4(CEP290):c.853-10del rs201265955
NM_025114.4(CEP290):c.853-11T>G
NM_025114.4(CEP290):c.853-11_853-10insC
NM_025114.4(CEP290):c.853-12_853-11insA
NM_025114.4(CEP290):c.853-14del
NM_025114.4(CEP290):c.853-16T>C
NM_025114.4(CEP290):c.853-18A>C rs2138072197
NM_025114.4(CEP290):c.853-20G>C rs1565913252
NM_025114.4(CEP290):c.853-7C>A rs2138071676
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
NM_025114.4(CEP290):c.867A>C (p.Thr289=) rs2138071158
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
NM_025114.4(CEP290):c.918C>T (p.Val306=) rs1592668759
NM_025114.4(CEP290):c.93C>G (p.Ser31=) rs375955381
NM_025114.4(CEP290):c.942+13A>G
NM_025114.4(CEP290):c.942+14A>G
NM_025114.4(CEP290):c.943-14G>T
NM_025114.4(CEP290):c.943-16T>C
NM_025114.4(CEP290):c.943-4C>G
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987
NM_025114.4(CEP290):c.966T>C (p.Asp322=) rs762450740
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_025132.4(WDR19):c.1002A>G (p.Leu334=)
NM_025132.4(WDR19):c.1014C>A (p.Thr338=)
NM_025132.4(WDR19):c.1038C>T (p.Phe346=)
NM_025132.4(WDR19):c.1041G>A (p.Leu347=) rs2109326437
NM_025132.4(WDR19):c.1113C>T (p.Thr371=)
NM_025132.4(WDR19):c.1122C>T (p.Asn374=)
NM_025132.4(WDR19):c.1125T>G (p.Pro375=) rs2109326804
NM_025132.4(WDR19):c.1134+16T>C rs1729035687
NM_025132.4(WDR19):c.1135-11C>G
NM_025132.4(WDR19):c.1135-18C>T rs187658795
NM_025132.4(WDR19):c.1249+16G>A
NM_025132.4(WDR19):c.1249+19G>T
NM_025132.4(WDR19):c.1249+9A>C rs201377206
NM_025132.4(WDR19):c.1250-15T>C
NM_025132.4(WDR19):c.1250-8T>C rs2109329675
NM_025132.4(WDR19):c.1261T>C (p.Leu421=)
NM_025132.4(WDR19):c.1269T>C (p.Asp423=) rs2109329739
NM_025132.4(WDR19):c.1326A>C (p.Ala442=)
NM_025132.4(WDR19):c.1329T>G (p.Leu443=)
NM_025132.4(WDR19):c.1356+11T>G rs2109329979
NM_025132.4(WDR19):c.1356+18G>A
NM_025132.4(WDR19):c.1357-13C>A
NM_025132.4(WDR19):c.1357-20T>C
NM_025132.4(WDR19):c.1365C>T (p.Ser455=) rs571091734
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) rs539621646
NM_025132.4(WDR19):c.1380T>C (p.Ala460=)
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
NM_025132.4(WDR19):c.1428C>T (p.Cys476=) rs267600148
NM_025132.4(WDR19):c.1431T>C (p.Arg477=) rs2109332085
NM_025132.4(WDR19):c.1443T>C (p.His481=) rs2109332130
NM_025132.4(WDR19):c.1446C>T (p.Ala482=)
NM_025132.4(WDR19):c.1467C>A (p.Ile489=)
NM_025132.4(WDR19):c.1479+15C>G
NM_025132.4(WDR19):c.1479+15C>T
NM_025132.4(WDR19):c.1479+17T>A rs765060066
NM_025132.4(WDR19):c.1485T>G (p.Gly495=) rs762372654
NM_025132.4(WDR19):c.1488C>A (p.Val496=) rs868438531
NM_025132.4(WDR19):c.1518A>G (p.Gln506=)
NM_025132.4(WDR19):c.1521C>T (p.Phe507=)
NM_025132.4(WDR19):c.1530T>C (p.Asp510=) rs2109349762
NM_025132.4(WDR19):c.153T>A (p.Ile51=) rs2109743773
NM_025132.4(WDR19):c.1548T>C (p.Ser516=)
NM_025132.4(WDR19):c.1581C>G (p.Thr527=) rs114689848
NM_025132.4(WDR19):c.1599T>C (p.Asp533=)
NM_025132.4(WDR19):c.1620T>C (p.Val540=)
NM_025132.4(WDR19):c.1629+13C>A
NM_025132.4(WDR19):c.1629+13C>T
NM_025132.4(WDR19):c.1630-9A>G
NM_025132.4(WDR19):c.164+20_164+32del rs2109743866
NM_025132.4(WDR19):c.165-15T>C
NM_025132.4(WDR19):c.165-6T>A rs1277161504
NM_025132.4(WDR19):c.1722T>A (p.Ile574=) rs779309885
NM_025132.4(WDR19):c.1740G>A (p.Lys580=) rs1730488801
NM_025132.4(WDR19):c.1746C>T (p.Tyr582=)
NM_025132.4(WDR19):c.1777+8A>G
NM_025132.4(WDR19):c.1778-11T>C rs1730513628
NM_025132.4(WDR19):c.1778-4G>A
NM_025132.4(WDR19):c.1778-5T>C
NM_025132.4(WDR19):c.1782C>A (p.Ala594=) rs776038917
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.1803C>T (p.Ser601=)
NM_025132.4(WDR19):c.1845T>C (p.Asn615=) rs727504221
NM_025132.4(WDR19):c.1851G>A (p.Glu617=)
NM_025132.4(WDR19):c.1881A>T (p.Val627=) rs2109358693
NM_025132.4(WDR19):c.18A>C (p.Ser6=)
NM_025132.4(WDR19):c.1902C>T (p.Thr634=)
NM_025132.4(WDR19):c.1982+14C>T
NM_025132.4(WDR19):c.1982+15A>G
NM_025132.4(WDR19):c.1983-10T>C
NM_025132.4(WDR19):c.1983-11T>C
NM_025132.4(WDR19):c.1983-15G>A rs1730894233
NM_025132.4(WDR19):c.1983-18T>C
NM_025132.4(WDR19):c.1983-8_1983-7delinsAT rs2109366689
NM_025132.4(WDR19):c.198A>G (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.2013T>C (p.Ile671=)
NM_025132.4(WDR19):c.2022T>C (p.Asp674=)
NM_025132.4(WDR19):c.2031C>G (p.Ala677=)
NM_025132.4(WDR19):c.2056C>T (p.Leu686=)
NM_025132.4(WDR19):c.2076G>A (p.Glu692=) rs1730908214
NM_025132.4(WDR19):c.2085C>T (p.Ile695=)
NM_025132.4(WDR19):c.2097G>A (p.Arg699=) rs1730911570
NM_025132.4(WDR19):c.2133A>G (p.Glu711=)
NM_025132.4(WDR19):c.2142+8G>C rs2109367377
NM_025132.4(WDR19):c.2154C>T (p.Asp718=)
NM_025132.4(WDR19):c.2166G>A (p.Leu722=)
NM_025132.4(WDR19):c.2193C>T (p.Asn731=)
NM_025132.4(WDR19):c.2235T>C (p.Cys745=)
NM_025132.4(WDR19):c.2254-14T>G
NM_025132.4(WDR19):c.2262G>A (p.Arg754=)
NM_025132.4(WDR19):c.2268A>G (p.Leu756=)
NM_025132.4(WDR19):c.2298A>G (p.Ala766=) rs1217640132
NM_025132.4(WDR19):c.2363+15T>G
NM_025132.4(WDR19):c.2364-11T>A
NM_025132.4(WDR19):c.2364-16C>T rs780933216
NM_025132.4(WDR19):c.2364-17T>G
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2364-9T>G
NM_025132.4(WDR19):c.2370T>C (p.Asp790=) rs1216157427
NM_025132.4(WDR19):c.2394T>C (p.Tyr798=)
NM_025132.4(WDR19):c.2415T>C (p.Asp805=) rs2109393765
NM_025132.4(WDR19):c.2421+10G>C rs760951645
NM_025132.4(WDR19):c.2422-13C>T
NM_025132.4(WDR19):c.243T>C (p.Leu81=) rs1577832495
NM_025132.4(WDR19):c.2463C>T (p.Ser821=)
NM_025132.4(WDR19):c.2490G>T (p.Gly830=) rs763965982
NM_025132.4(WDR19):c.2523C>G (p.Val841=)
NM_025132.4(WDR19):c.252C>A (p.Ala84=)
NM_025132.4(WDR19):c.2563-13T>G rs2109406442
NM_025132.4(WDR19):c.2574A>G (p.Glu858=)
NM_025132.4(WDR19):c.2645+15C>G rs150628352
NM_025132.4(WDR19):c.2645+15C>T
NM_025132.4(WDR19):c.2646-15G>A
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2646-8C>T rs1174650732
NM_025132.4(WDR19):c.2695T>C (p.Leu899=)
NM_025132.4(WDR19):c.2729+24_2729+33del rs2109410637
NM_025132.4(WDR19):c.2729+9A>G
NM_025132.4(WDR19):c.2730-11T>C rs1314348967
NM_025132.4(WDR19):c.2730-17G>C rs1342106743
NM_025132.4(WDR19):c.2730-18T>A
NM_025132.4(WDR19):c.2781A>G (p.Val927=)
NM_025132.4(WDR19):c.2823T>C (p.Ala941=)
NM_025132.4(WDR19):c.282T>C (p.Asn94=)
NM_025132.4(WDR19):c.2841G>A (p.Glu947=)
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.2876+7_2876+8del rs1033377235
NM_025132.4(WDR19):c.2876+8A>G rs1560541195
NM_025132.4(WDR19):c.2877-13T>G
NM_025132.4(WDR19):c.2904G>A (p.Gly968=)
NM_025132.4(WDR19):c.291-17A>G
NM_025132.4(WDR19):c.2916G>A (p.Gln972=)
NM_025132.4(WDR19):c.2973C>T (p.Asn991=) rs1163027841
NM_025132.4(WDR19):c.3001+15_3001+16del
NM_025132.4(WDR19):c.3001+17C>G
NM_025132.4(WDR19):c.3002-7G>T rs1260291347
NM_025132.4(WDR19):c.3012C>T (p.Asp1004=)
NM_025132.4(WDR19):c.3043T>C (p.Leu1015=) rs2109446432
NM_025132.4(WDR19):c.3048C>T (p.Tyr1016=)
NM_025132.4(WDR19):c.3075G>A (p.Gln1025=)
NM_025132.4(WDR19):c.3114+10T>C rs2109446817
NM_025132.4(WDR19):c.3114+13C>T
NM_025132.4(WDR19):c.3114+15A>T
NM_025132.4(WDR19):c.3115-8C>T
NM_025132.4(WDR19):c.3162A>C (p.Ala1054=)
NM_025132.4(WDR19):c.3183+19A>C rs2109452579
NM_025132.4(WDR19):c.3184-11T>C
NM_025132.4(WDR19):c.3184-14C>G
NM_025132.4(WDR19):c.3184-16dup rs2109483001
NM_025132.4(WDR19):c.3184-7T>C
NM_025132.4(WDR19):c.3189T>G (p.Gly1063=)
NM_025132.4(WDR19):c.3216T>C (p.Asn1072=) rs2109483274
NM_025132.4(WDR19):c.3258T>G (p.Pro1086=)
NM_025132.4(WDR19):c.3262-19A>G
NM_025132.4(WDR19):c.3288C>T (p.Tyr1096=)
NM_025132.4(WDR19):c.3306C>T (p.Tyr1102=)
NM_025132.4(WDR19):c.3327C>T (p.Ala1109=)
NM_025132.4(WDR19):c.333C>T (p.Phe111=)
NM_025132.4(WDR19):c.3358+15C>A
NM_025132.4(WDR19):c.3358+15C>G
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3358+16G>C
NM_025132.4(WDR19):c.3358+18_3358+19del
NM_025132.4(WDR19):c.3358+19T>C
NM_025132.4(WDR19):c.3358+20del
NM_025132.4(WDR19):c.3359-13A>T
NM_025132.4(WDR19):c.3359-6T>C
NM_025132.4(WDR19):c.3406C>T (p.Leu1136=)
NM_025132.4(WDR19):c.3426A>G (p.Lys1142=)
NM_025132.4(WDR19):c.3432C>G (p.Pro1144=) rs1225242307
NM_025132.4(WDR19):c.3483+14A>C rs2109497563
NM_025132.4(WDR19):c.3483+19C>G
NM_025132.4(WDR19):c.3484-16A>G
NM_025132.4(WDR19):c.3516G>T (p.Gly1172=)
NM_025132.4(WDR19):c.3528C>T (p.Leu1176=)
NM_025132.4(WDR19):c.3555A>G (p.Lys1185=)
NM_025132.4(WDR19):c.3561A>G (p.Pro1187=)
NM_025132.4(WDR19):c.3565+15C>T rs1456611735
NM_025132.4(WDR19):c.3565+16C>T
NM_025132.4(WDR19):c.3565+17A>G
NM_025132.4(WDR19):c.3566-17C>G
NM_025132.4(WDR19):c.3566-9C>T rs2109514534
NM_025132.4(WDR19):c.3582G>A (p.Leu1194=)
NM_025132.4(WDR19):c.3609G>A (p.Arg1203=)
NM_025132.4(WDR19):c.3639C>T (p.Phe1213=)
NM_025132.4(WDR19):c.3684C>G (p.Ala1228=) rs2109515183
NM_025132.4(WDR19):c.3716+17A>G
NM_025132.4(WDR19):c.3717-15G>A
NM_025132.4(WDR19):c.3723C>T (p.Pro1241=) rs886660173
NM_025132.4(WDR19):c.3753T>G (p.Thr1251=)
NM_025132.4(WDR19):c.3762A>C (p.Pro1254=) rs373260857
NM_025132.4(WDR19):c.3762A>G (p.Pro1254=) rs373260857
NM_025132.4(WDR19):c.3828T>C (p.Tyr1276=)
NM_025132.4(WDR19):c.3840+13A>G
NM_025132.4(WDR19):c.3841-13A>T
NM_025132.4(WDR19):c.3841-15A>C
NM_025132.4(WDR19):c.3841-15A>G rs368673192
NM_025132.4(WDR19):c.384A>G (p.Thr128=)
NM_025132.4(WDR19):c.3918-11C>T
NM_025132.4(WDR19):c.3918-15C>T
NM_025132.4(WDR19):c.3918-19del rs2109526206
NM_025132.4(WDR19):c.3918-8del rs748090823
NM_025132.4(WDR19):c.3942T>C (p.Cys1314=) rs930966543
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.3961T>C (p.Leu1321=)
NM_025132.4(WDR19):c.406+14G>A rs2109265002
NM_025132.4(WDR19):c.406+20A>G
NM_025132.4(WDR19):c.456G>T (p.Leu152=)
NM_025132.4(WDR19):c.462T>C (p.Ala154=) rs2109283486
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.522+13C>A
NM_025132.4(WDR19):c.522+14G>A
NM_025132.4(WDR19):c.522+7C>T
NM_025132.4(WDR19):c.523-12T>C
NM_025132.4(WDR19):c.523-18A>G
NM_025132.4(WDR19):c.523-19G>A rs2109295763
NM_025132.4(WDR19):c.558T>C (p.Phe186=)
NM_025132.4(WDR19):c.6+11T>A
NM_025132.4(WDR19):c.6+16A>G
NM_025132.4(WDR19):c.6+20C>T
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.603+15C>G
NM_025132.4(WDR19):c.603+17A>C
NM_025132.4(WDR19):c.603+20C>G
NM_025132.4(WDR19):c.604-12del
NM_025132.4(WDR19):c.604-19T>C
NM_025132.4(WDR19):c.604-20C>G rs2109299804
NM_025132.4(WDR19):c.654A>G (p.Glu218=)
NM_025132.4(WDR19):c.7-7T>A
NM_025132.4(WDR19):c.7-9del
NM_025132.4(WDR19):c.717-11C>G rs1370589827
NM_025132.4(WDR19):c.717-13T>G
NM_025132.4(WDR19):c.717-19G>T
NM_025132.4(WDR19):c.717-4A>G
NM_025132.4(WDR19):c.75A>G (p.Ser25=) rs1389886639
NM_025132.4(WDR19):c.768C>G (p.Val256=)
NM_025132.4(WDR19):c.768C>T (p.Val256=)
NM_025132.4(WDR19):c.798A>G (p.Gln266=) rs1210144163
NM_025132.4(WDR19):c.890+10T>A rs2109301637
NM_025132.4(WDR19):c.891-16C>G
NM_025132.4(WDR19):c.891-5T>C
NM_025132.4(WDR19):c.891-9G>C rs1577896751
NM_025132.4(WDR19):c.918A>G (p.Leu306=)
NM_025132.4(WDR19):c.930T>C (p.Tyr310=) rs2109322819
NM_025132.4(WDR19):c.961+88T>C
NM_025132.4(WDR19):c.962-12C>T rs370663909
NM_025132.4(WDR19):c.962-7A>G
NM_025132.4(WDR19):c.99-16T>A
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
NM_030578.4(B9D2):c.88+17G>C
NM_031427.4(DNAL1):c.*6015_*6016del rs10594595
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG rs1555340583
NM_031427.4(DNAL1):c.129C>T (p.Ser43=) rs2140030998
NM_031427.4(DNAL1):c.152+14T>C
NM_031427.4(DNAL1):c.153-20T>G
NM_031427.4(DNAL1):c.153-7T>C rs1239414588
NM_031427.4(DNAL1):c.209-12_209-8del
NM_031427.4(DNAL1):c.209-13C>G
NM_031427.4(DNAL1):c.234A>G (p.Gly78=) rs746314619
NM_031427.4(DNAL1):c.264+13TTA[2]
NM_031427.4(DNAL1):c.265-12G>C
NM_031427.4(DNAL1):c.265-15T>A
NM_031427.4(DNAL1):c.279C>T (p.Asp93=)
NM_031427.4(DNAL1):c.3+17C>T
NM_031427.4(DNAL1):c.3+8C>G
NM_031427.4(DNAL1):c.3+9C>A rs572913041
NM_031427.4(DNAL1):c.321G>A (p.Lys107=)
NM_031427.4(DNAL1):c.330G>A (p.Gly110=) rs1324085980
NM_031427.4(DNAL1):c.349T>C (p.Leu117=)
NM_031427.4(DNAL1):c.4-19C>T rs939651787
NM_031427.4(DNAL1):c.42+13G>A
NM_031427.4(DNAL1):c.42+8C>T rs1891180396
NM_031427.4(DNAL1):c.43-9T>C rs1595204699
NM_031427.4(DNAL1):c.483C>T (p.Asn161=)
NM_031427.4(DNAL1):c.532+11C>G rs72721725
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
NM_031885.5(BBS2):c.1065T>C (p.Tyr355=) rs2144148677
NM_031885.5(BBS2):c.1080+10G>A
NM_031885.5(BBS2):c.1080+10G>C rs2144148576
NM_031885.5(BBS2):c.1080+11G>T
NM_031885.5(BBS2):c.1080+18T>C
NM_031885.5(BBS2):c.1080+18dup
NM_031885.5(BBS2):c.1080+8T>G
NM_031885.5(BBS2):c.1080+9A>G
NM_031885.5(BBS2):c.1081-14G>C
NM_031885.5(BBS2):c.1083T>A (p.Ala361=) rs951758684
NM_031885.5(BBS2):c.1099C>T (p.Leu367=) rs1245174214
NM_031885.5(BBS2):c.111G>T (p.Thr37=) rs191867233
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
NM_031885.5(BBS2):c.1158G>A (p.Thr386=) rs199944942
NM_031885.5(BBS2):c.1161C>G (p.Leu387=) rs71387119
NM_031885.5(BBS2):c.1161C>T (p.Leu387=) rs71387119
NM_031885.5(BBS2):c.1164A>G (p.Ser388=) rs1425704431
NM_031885.5(BBS2):c.117+10C>G rs376041093
NM_031885.5(BBS2):c.117+11C>A
NM_031885.5(BBS2):c.117+12C>T
NM_031885.5(BBS2):c.117+15C>G
NM_031885.5(BBS2):c.117+16C>G
NM_031885.5(BBS2):c.117+16C>T
NM_031885.5(BBS2):c.117+19A>C
NM_031885.5(BBS2):c.117+19A>T
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.117+8C>G rs1474535437
NM_031885.5(BBS2):c.117+8C>T rs1474535437
NM_031885.5(BBS2):c.117+9T>C
NM_031885.5(BBS2):c.1171C>T (p.Leu391=)
NM_031885.5(BBS2):c.1179T>C (p.Asn393=) rs2144145352
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn) rs755877218
NM_031885.5(BBS2):c.118-13A>G
NM_031885.5(BBS2):c.118-15T>C
NM_031885.5(BBS2):c.118-16G>T
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-17A>C
NM_031885.5(BBS2):c.118-8T>G
NM_031885.5(BBS2):c.1197T>C (p.His399=)
NM_031885.5(BBS2):c.1215C>A (p.Ser405=) rs768053787
NM_031885.5(BBS2):c.1221T>C (p.Ser407=) rs2144145106
NM_031885.5(BBS2):c.1225+10T>A
NM_031885.5(BBS2):c.1225+10T>C rs1597015665
NM_031885.5(BBS2):c.1225+11A>G
NM_031885.5(BBS2):c.1225+12C>T
NM_031885.5(BBS2):c.1225+14C>T
NM_031885.5(BBS2):c.1226-11C>G
NM_031885.5(BBS2):c.1226-4G>A
NM_031885.5(BBS2):c.1226-5T>C rs765486186
NM_031885.5(BBS2):c.1226-7C>T rs1399847697
NM_031885.5(BBS2):c.1227C>T (p.Asp409=) rs2144143696
NM_031885.5(BBS2):c.1230C>T (p.Thr410=)
NM_031885.5(BBS2):c.1242A>G (p.Ala414=)
NM_031885.5(BBS2):c.1260A>G (p.Glu420=)
NM_031885.5(BBS2):c.1272A>C (p.Thr424=) rs2144143509
NM_031885.5(BBS2):c.1296C>T (p.Pro432=) rs2144143413
NM_031885.5(BBS2):c.1353C>T (p.Val451=)
NM_031885.5(BBS2):c.1368C>T (p.His456=)
NM_031885.5(BBS2):c.1369T>C (p.Leu457=)
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)
NM_031885.5(BBS2):c.1397+10T>G
NM_031885.5(BBS2):c.1397+15G>A
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.1397+7C>T
NM_031885.5(BBS2):c.1397+9T>C
NM_031885.5(BBS2):c.1398-10T>C
NM_031885.5(BBS2):c.1398-14T>C
NM_031885.5(BBS2):c.1398-4A>G
NM_031885.5(BBS2):c.1398-5C>T rs1393735395
NM_031885.5(BBS2):c.1398-7G>T rs2144139575
NM_031885.5(BBS2):c.1410T>C (p.His470=) rs761861062
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.1416T>C (p.Phe472=)
NM_031885.5(BBS2):c.1419A>G (p.Glu473=)
NM_031885.5(BBS2):c.1422G>C (p.Ser474=)
NM_031885.5(BBS2):c.1422G>T (p.Ser474=) rs117033008
NM_031885.5(BBS2):c.1428A>G (p.Arg476=) rs2144139405
NM_031885.5(BBS2):c.1431G>A (p.Gln477=)
NM_031885.5(BBS2):c.1437T>G (p.Pro479=) rs747415803
NM_031885.5(BBS2):c.1440A>C (p.Arg480=) rs2144139348
NM_031885.5(BBS2):c.1443C>T (p.Phe481=) rs2144139337
NM_031885.5(BBS2):c.1446C>T (p.Ser482=)
NM_031885.5(BBS2):c.144G>A (p.Arg48=)
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
NM_031885.5(BBS2):c.1455G>A (p.Ala485=) rs749317806
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
NM_031885.5(BBS2):c.147C>T (p.Asn49=)
NM_031885.5(BBS2):c.1482G>A (p.Glu494=)
NM_031885.5(BBS2):c.1485A>T (p.Pro495=)
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=) rs889525343
NM_031885.5(BBS2):c.1500C>T (p.Asn500=) rs2144139077
NM_031885.5(BBS2):c.1506C>A (p.Thr502=)
NM_031885.5(BBS2):c.1512A>G (p.Ala504=)
NM_031885.5(BBS2):c.1515A>G (p.Glu505=)
NM_031885.5(BBS2):c.1521A>G (p.Ala507=)
NM_031885.5(BBS2):c.1524G>A (p.Gln508=) rs2144138957
NM_031885.5(BBS2):c.1527+11C>T
NM_031885.5(BBS2):c.1527+18C>T
NM_031885.5(BBS2):c.1527+19T>G
NM_031885.5(BBS2):c.1527+20C>G
NM_031885.5(BBS2):c.1528-16T>C rs1430495735
NM_031885.5(BBS2):c.1528-19C>A
NM_031885.5(BBS2):c.1528-4C>G
NM_031885.5(BBS2):c.1528-4C>T rs1964177299
NM_031885.5(BBS2):c.1528-7T>C rs1597013039
NM_031885.5(BBS2):c.1528-9A>G rs2144135110
NM_031885.5(BBS2):c.153T>C (p.His51=)
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
NM_031885.5(BBS2):c.1551C>T (p.Asn517=) rs1306411366
NM_031885.5(BBS2):c.1557G>A (p.Leu519=) rs925476146
NM_031885.5(BBS2):c.1558T>C (p.Leu520=) rs2144134913
NM_031885.5(BBS2):c.1569C>T (p.Asp523=)
NM_031885.5(BBS2):c.156C>T (p.Val52=) rs1468099662
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
NM_031885.5(BBS2):c.1626C>T (p.Gly542=)
NM_031885.5(BBS2):c.1629C>T (p.His543=) rs2144134595
NM_031885.5(BBS2):c.162A>G (p.Ala54=) rs2144193619
NM_031885.5(BBS2):c.1632G>T (p.Leu544=) rs2144134579
NM_031885.5(BBS2):c.1650T>C (p.Leu550=)
NM_031885.5(BBS2):c.1659+10A>G
NM_031885.5(BBS2):c.1659+11A>C
NM_031885.5(BBS2):c.1659+17C>T
NM_031885.5(BBS2):c.165C>T (p.Ser55=) rs2144193611
NM_031885.5(BBS2):c.1660-13_1660-11del
NM_031885.5(BBS2):c.1660-16T>C
NM_031885.5(BBS2):c.1660-17A>G
NM_031885.5(BBS2):c.1660-17_1660-16del rs762198535
NM_031885.5(BBS2):c.1660-18T>C
NM_031885.5(BBS2):c.1660-9T>G
NM_031885.5(BBS2):c.1662C>T (p.Ile554=) rs774112668
NM_031885.5(BBS2):c.1671T>C (p.Asn557=)
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
NM_031885.5(BBS2):c.1686T>C (p.Asp562=) rs1382087682
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
NM_031885.5(BBS2):c.1716A>G (p.Ala572=) rs2144132647
NM_031885.5(BBS2):c.1719A>G (p.Ser573=)
NM_031885.5(BBS2):c.1728T>C (p.Ala576=) rs2144132596
NM_031885.5(BBS2):c.1731T>C (p.Ile577=)
NM_031885.5(BBS2):c.1746A>G (p.Val582=)
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
NM_031885.5(BBS2):c.1776A>G (p.Glu592=) rs2144132413
NM_031885.5(BBS2):c.1791A>C (p.Leu597=) rs2144132339
NM_031885.5(BBS2):c.1794T>A (p.Val598=)
NM_031885.5(BBS2):c.1797+14G>T
NM_031885.5(BBS2):c.1797+17G>A
NM_031885.5(BBS2):c.1797+7del rs764642655
NM_031885.5(BBS2):c.1798-10T>C rs1964135497
NM_031885.5(BBS2):c.1798-18A>G
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
NM_031885.5(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
NM_031885.5(BBS2):c.1812T>C (p.His604=)
NM_031885.5(BBS2):c.1818G>A (p.Val606=) rs1964134267
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
NM_031885.5(BBS2):c.1911-10dup
NM_031885.5(BBS2):c.1911-14A>C
NM_031885.5(BBS2):c.1911-6G>A rs1000103343
NM_031885.5(BBS2):c.1911-8T>G rs1260335822
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=) rs1014315603
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=) rs895581773
NM_031885.5(BBS2):c.1998A>G (p.Thr666=)
NM_031885.5(BBS2):c.2002C>T (p.Leu668=) rs2144095506
NM_031885.5(BBS2):c.2005T>C (p.Leu669=)
NM_031885.5(BBS2):c.2019A>G (p.Lys673=)
NM_031885.5(BBS2):c.2025A>G (p.Val675=)
NM_031885.5(BBS2):c.2028T>C (p.Asn676=) rs1449284374
NM_031885.5(BBS2):c.2046A>C (p.Ala682=) rs2144095335
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
NM_031885.5(BBS2):c.2055G>A (p.Leu685=)
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.2059+15A>T rs571449292
NM_031885.5(BBS2):c.2059+19_2059+20insT
NM_031885.5(BBS2):c.2059+7C>T
NM_031885.5(BBS2):c.2059+8T>G
NM_031885.5(BBS2):c.2060-10T>C rs2144093380
NM_031885.5(BBS2):c.2060-18A>T
NM_031885.5(BBS2):c.2060-4G>A rs1963731219
NM_031885.5(BBS2):c.2060-6A>G
NM_031885.5(BBS2):c.2060-7T>C
NM_031885.5(BBS2):c.2060-8T>C rs2144093365
NM_031885.5(BBS2):c.2060-8_2060-5del rs1321033053
NM_031885.5(BBS2):c.2060-9C>T rs2144093372
NM_031885.5(BBS2):c.2060-9_2060-7del rs754879154
NM_031885.5(BBS2):c.2064A>G (p.Gly688=)
NM_031885.5(BBS2):c.2067A>G (p.Lys689=)
NM_031885.5(BBS2):c.2091T>G (p.Ala697=) rs1412519720
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
NM_031885.5(BBS2):c.2130G>A (p.Leu710=)
NM_031885.5(BBS2):c.2139C>T (p.Ile713=) rs764866796
NM_031885.5(BBS2):c.213T>A (p.Ile71=) rs2144193392
NM_031885.5(BBS2):c.213T>C (p.Ile71=) rs2144193392
NM_031885.5(BBS2):c.2151G>A (p.Gly717=)
NM_031885.5(BBS2):c.2157T>G (p.Ala719=) rs1380327569
NM_031885.5(BBS2):c.2160T>C (p.Ser720=) rs2144092904
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu)
NM_031885.5(BBS2):c.21C>T (p.Thr7=) rs1311176453
NM_031885.5(BBS2):c.237T>A (p.Thr79=) rs756639098
NM_031885.5(BBS2):c.240A>G (p.Ala80=)
NM_031885.5(BBS2):c.243C>A (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.243C>T (p.Gly81=)
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.24G>A (p.Leu8=)
NM_031885.5(BBS2):c.258G>A (p.Glu86=)
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
NM_031885.5(BBS2):c.277T>C (p.Leu93=)
NM_031885.5(BBS2):c.27A>G (p.Lys9=)
NM_031885.5(BBS2):c.285G>A (p.Gly95=) rs752531652
NM_031885.5(BBS2):c.288A>G (p.Thr96=) rs2144192963
NM_031885.5(BBS2):c.28C>T (p.Leu10=)
NM_031885.5(BBS2):c.291G>A (p.Gln97=)
NM_031885.5(BBS2):c.297T>C (p.Asn99=) rs2144192928
NM_031885.5(BBS2):c.306T>C (p.Ala102=)
NM_031885.5(BBS2):c.312T>C (p.Asp104=)
NM_031885.5(BBS2):c.315C>G (p.Val105=)
NM_031885.5(BBS2):c.318C>T (p.Tyr106=)
NM_031885.5(BBS2):c.339C>T (p.Tyr113=)
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.345+10A>G rs770249850
NM_031885.5(BBS2):c.345+11C>T
NM_031885.5(BBS2):c.345+12C>T rs2144192648
NM_031885.5(BBS2):c.345+15del
NM_031885.5(BBS2):c.345+16A>G
NM_031885.5(BBS2):c.345+17T>C
NM_031885.5(BBS2):c.345+8T>C
NM_031885.5(BBS2):c.346-11A>G
NM_031885.5(BBS2):c.346-12T>A
NM_031885.5(BBS2):c.346-20T>C
NM_031885.5(BBS2):c.346-5C>T
NM_031885.5(BBS2):c.357G>T (p.Gly119=)
NM_031885.5(BBS2):c.366A>C (p.Ala122=) rs1191119235
NM_031885.5(BBS2):c.381A>G (p.Thr127=)
NM_031885.5(BBS2):c.399C>A (p.Ser133=)
NM_031885.5(BBS2):c.399C>T (p.Ser133=)
NM_031885.5(BBS2):c.405T>C (p.Leu135=)
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
NM_031885.5(BBS2):c.429T>C (p.Ala143=) rs2144181653
NM_031885.5(BBS2):c.432G>T (p.Leu144=) rs2144181642
NM_031885.5(BBS2):c.441C>T (p.Phe147=) rs2144181587
NM_031885.5(BBS2):c.453A>G (p.Gly151=) rs144460758
NM_031885.5(BBS2):c.45C>T (p.Ser15=) rs1354385806
NM_031885.5(BBS2):c.462C>A (p.Leu154=)
NM_031885.5(BBS2):c.471+10A>C rs1342804095
NM_031885.5(BBS2):c.471+12A>G
NM_031885.5(BBS2):c.471+14A>C
NM_031885.5(BBS2):c.472-18T>C
NM_031885.5(BBS2):c.472-6T>C rs2144180463
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
NM_031885.5(BBS2):c.501C>G (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.501C>T (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.516T>C (p.Asp172=) rs1387025266
NM_031885.5(BBS2):c.519T>C (p.Gly173=)
NM_031885.5(BBS2):c.51A>T (p.Arg17=)
NM_031885.5(BBS2):c.522T>C (p.Asp174=)
NM_031885.5(BBS2):c.528G>A (p.Lys176=)
NM_031885.5(BBS2):c.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T
NM_031885.5(BBS2):c.534+17A>G
NM_031885.5(BBS2):c.534+18T>C
NM_031885.5(BBS2):c.534+19A>C rs930327101
NM_031885.5(BBS2):c.534+19A>G
NM_031885.5(BBS2):c.534+7G>T rs886052149
NM_031885.5(BBS2):c.534+9G>A
NM_031885.5(BBS2):c.534+9G>T rs2144180024
NM_031885.5(BBS2):c.535-16_535-14del
NM_031885.5(BBS2):c.535-18A>G
NM_031885.5(BBS2):c.535-20G>C
NM_031885.5(BBS2):c.535-6C>T rs2144177148
NM_031885.5(BBS2):c.535-6del rs1237158483
NM_031885.5(BBS2):c.535-8C>T rs2144177202
NM_031885.5(BBS2):c.535-9C>T rs2144177223
NM_031885.5(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.5(BBS2):c.564C>A (p.Ile188=)
NM_031885.5(BBS2):c.564C>T (p.Ile188=)
NM_031885.5(BBS2):c.573T>C (p.Phe191=) rs2144176995
NM_031885.5(BBS2):c.57G>A (p.Val19=)
NM_031885.5(BBS2):c.588T>C (p.Ile196=)
NM_031885.5(BBS2):c.60C>T (p.Ala20=)
NM_031885.5(BBS2):c.612+14C>T rs770986334
NM_031885.5(BBS2):c.612+16T>A
NM_031885.5(BBS2):c.612+17C>G rs745726316
NM_031885.5(BBS2):c.612+18G>T rs200364314
NM_031885.5(BBS2):c.612+7A>G
NM_031885.5(BBS2):c.613-11T>C
NM_031885.5(BBS2):c.615A>T (p.Ile205=)
NM_031885.5(BBS2):c.618C>T (p.Val206=)
NM_031885.5(BBS2):c.621C>T (p.Thr207=) rs1481865252
NM_031885.5(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.5(BBS2):c.633C>G (p.Pro211=)
NM_031885.5(BBS2):c.633C>T (p.Pro211=)
NM_031885.5(BBS2):c.654T>C (p.Gly218=)
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
NM_031885.5(BBS2):c.672C>G (p.Gly224=)
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
NM_031885.5(BBS2):c.675A>C (p.Thr225=) rs2144162957
NM_031885.5(BBS2):c.681A>G (p.Gly227=) rs2144162940
NM_031885.5(BBS2):c.684T>A (p.Val228=) rs2144162919
NM_031885.5(BBS2):c.69C>T (p.Arg23=)
NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T
NM_031885.5(BBS2):c.717+7A>G rs2144162735
NM_031885.5(BBS2):c.718-10T>C rs2144162525
NM_031885.5(BBS2):c.718-19T>G
NM_031885.5(BBS2):c.718-4T>G rs1265021801
NM_031885.5(BBS2):c.718-9C>A rs2144162512
NM_031885.5(BBS2):c.723A>G (p.Lys241=)
NM_031885.5(BBS2):c.726T>C (p.Asn242=) rs1481166462
NM_031885.5(BBS2):c.750T>C (p.Phe250=)
NM_031885.5(BBS2):c.75C>T (p.Asp25=) rs1964868134
NM_031885.5(BBS2):c.768A>C (p.Gly256=) rs2144162236
NM_031885.5(BBS2):c.780G>A (p.Leu260=)
NM_031885.5(BBS2):c.780G>C (p.Leu260=)
NM_031885.5(BBS2):c.786T>G (p.Thr262=)
NM_031885.5(BBS2):c.795C>T (p.Ser265=) rs1172637602
NM_031885.5(BBS2):c.801G>A (p.Gly267=)
NM_031885.5(BBS2):c.801G>T (p.Gly267=)
NM_031885.5(BBS2):c.804+15C>G
NM_031885.5(BBS2):c.804+17A>G
NM_031885.5(BBS2):c.804+7T>G rs2144162020
NM_031885.5(BBS2):c.805-10T>A
NM_031885.5(BBS2):c.805-10T>G rs2144150878
NM_031885.5(BBS2):c.805-15G>A
NM_031885.5(BBS2):c.807T>C (p.Val269=) rs2144150832
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
NM_031885.5(BBS2):c.816A>G (p.Arg272=) rs1471030773
NM_031885.5(BBS2):c.822C>T (p.Asp274=) rs2144150744
NM_031885.5(BBS2):c.823C>A (p.Arg275=)
NM_031885.5(BBS2):c.840C>T (p.Ile280=) rs1207765703
NM_031885.5(BBS2):c.861T>C (p.Ser287=)
NM_031885.5(BBS2):c.864A>C (p.Ala288=) rs1340236108
NM_031885.5(BBS2):c.87G>A (p.Pro29=) rs2144214387
NM_031885.5(BBS2):c.882G>A (p.Glu294=) rs2144150392
NM_031885.5(BBS2):c.912G>A (p.Gln304=) rs2144150234
NM_031885.5(BBS2):c.940+18A>G
NM_031885.5(BBS2):c.940+20A>G
NM_031885.5(BBS2):c.941-10T>C
NM_031885.5(BBS2):c.941-19G>A
NM_031885.5(BBS2):c.941-20G>T
NM_031885.5(BBS2):c.941-4del rs1964302734
NM_031885.5(BBS2):c.941-6G>T
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.941-8C>T rs373354290
NM_031885.5(BBS2):c.960C>G (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
NM_031885.5(BBS2):c.975G>A (p.Arg325=) rs1276623881
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.5(BBS2):c.990C>T (p.Asp330=) rs2144148961
NM_031885.5(BBS2):c.993C>T (p.Thr331=) rs1964300336
NM_031885.5(BBS2):c.999A>T (p.Ala333=) rs1964300041
NM_031885.5(BBS2):c.99C>G (p.Ala33=)
NM_031885.5(BBS2):c.9G>T (p.Leu3=)
NM_031924.8(RSPH3):c.-109G>A
NM_031924.8(RSPH3):c.-10G>A
NM_031924.8(RSPH3):c.-151G>T
NM_031924.8(RSPH3):c.-19A>G
NM_031924.8(RSPH3):c.-211T>C
NM_031924.8(RSPH3):c.-217A>C rs201139812
NM_031924.8(RSPH3):c.-232C>G
NM_031924.8(RSPH3):c.-250C>T
NM_031924.8(RSPH3):c.-259A>T
NM_031924.8(RSPH3):c.-292T>C
NM_031924.8(RSPH3):c.-304T>G rs751442066
NM_031924.8(RSPH3):c.-396C>T rs1554291758
NM_031924.8(RSPH3):c.-418C>G
NM_031924.8(RSPH3):c.-421G>A
NM_031924.8(RSPH3):c.-70C>T rs2114732979
NM_031924.8(RSPH3):c.1038T>C (p.Gly346=) rs2128605226
NM_031924.8(RSPH3):c.1047A>T (p.Gly349=) rs2128605220
NM_031924.8(RSPH3):c.1110G>A (p.Glu370=) rs2128605176
NM_031924.8(RSPH3):c.116+12A>T
NM_031924.8(RSPH3):c.116+7G>A
NM_031924.8(RSPH3):c.1242G>A (p.Glu414=) rs2128605089
NM_031924.8(RSPH3):c.177C>T (p.Asn59=)
NM_031924.8(RSPH3):c.204+18A>G
NM_031924.8(RSPH3):c.204+20T>C
NM_031924.8(RSPH3):c.205-11A>G
NM_031924.8(RSPH3):c.207C>T (p.Leu69=)
NM_031924.8(RSPH3):c.288G>A (p.Gln96=)
NM_031924.8(RSPH3):c.346+10T>C
NM_031924.8(RSPH3):c.346+14C>T
NM_031924.8(RSPH3):c.346+17T>C
NM_031924.8(RSPH3):c.347-11del
NM_031924.8(RSPH3):c.390T>C (p.Asp130=) rs1583708889
NM_031924.8(RSPH3):c.483A>G (p.Leu161=)
NM_031924.8(RSPH3):c.589C>T (p.Leu197=)
NM_031924.8(RSPH3):c.618G>A (p.Glu206=)
NM_031924.8(RSPH3):c.621T>C (p.Tyr207=)
NM_031924.8(RSPH3):c.648T>C (p.Ala216=)
NM_031924.8(RSPH3):c.697-12C>T
NM_031924.8(RSPH3):c.697-9del rs781459954
NM_031924.8(RSPH3):c.717G>A (p.Gln239=)
NM_031924.8(RSPH3):c.741C>T (p.Asn247=)
NM_031924.8(RSPH3):c.747A>G (p.Thr249=)
NM_031924.8(RSPH3):c.789G>A (p.Leu263=)
NM_031924.8(RSPH3):c.795C>T (p.Asp265=) rs762145078
NM_031924.8(RSPH3):c.859+7A>G
NM_031924.8(RSPH3):c.860-19A>G
NM_031924.8(RSPH3):c.864T>C (p.Ile288=)
NM_031924.8(RSPH3):c.882A>G (p.Pro294=)
NM_031924.8(RSPH3):c.946+20A>T
NM_031924.8(RSPH3):c.947-15C>T
NM_031924.8(RSPH3):c.947-7T>C rs2128605284
NM_031924.8(RSPH3):c.973A>C (p.Arg325=)
NM_031924.8(RSPH3):c.976C>T (p.Leu326=)
NM_031924.8(RSPH3):c.992A>G (p.His331Arg) rs78116655
NM_031924.8(RSPH3):c.9A>C (p.Ser3=) rs10945587
NM_033028.5(BBS4):c.1020C>T (p.Leu340=)
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
NM_033028.5(BBS4):c.1036+11T>C
NM_033028.5(BBS4):c.1036+18G>A
NM_033028.5(BBS4):c.1036+19G>A
NM_033028.5(BBS4):c.1036+19G>C rs2151048330
NM_033028.5(BBS4):c.1036+8A>G
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
NM_033028.5(BBS4):c.1086A>G (p.Ala362=)
NM_033028.5(BBS4):c.1092A>T (p.Ala364=)
NM_033028.5(BBS4):c.1095C>A (p.Val365=)
NM_033028.5(BBS4):c.1101G>A (p.Leu367=)
NM_033028.5(BBS4):c.1101G>T (p.Leu367=)
NM_033028.5(BBS4):c.1106+11T>G
NM_033028.5(BBS4):c.1106+17G>A rs1485932268
NM_033028.5(BBS4):c.1106+7A>C
NM_033028.5(BBS4):c.1106+7A>G
NM_033028.5(BBS4):c.1107-13C>T
NM_033028.5(BBS4):c.1107-17A>G
NM_033028.5(BBS4):c.1107-9C>G
NM_033028.5(BBS4):c.1134T>C (p.Tyr378=)
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
NM_033028.5(BBS4):c.1248+18T>G
NM_033028.5(BBS4):c.1249-11G>A
NM_033028.5(BBS4):c.1249-15C>A
NM_033028.5(BBS4):c.1249-5A>C
NM_033028.5(BBS4):c.1249-8dup rs1419777878
NM_033028.5(BBS4):c.1254G>A (p.Val418=)
NM_033028.5(BBS4):c.1254G>C (p.Val418=)
NM_033028.5(BBS4):c.1263T>G (p.Ala421=)
NM_033028.5(BBS4):c.1278T>A (p.Ala426=)
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
NM_033028.5(BBS4):c.1296G>A (p.Glu432=)
NM_033028.5(BBS4):c.1299A>G (p.Ala433=)
NM_033028.5(BBS4):c.1300C>T (p.Leu434=)
NM_033028.5(BBS4):c.1302G>C (p.Leu434=)
NM_033028.5(BBS4):c.1317A>G (p.Pro439=)
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
NM_033028.5(BBS4):c.1347C>G (p.Thr449=)
NM_033028.5(BBS4):c.1347C>T (p.Thr449=) rs779876012
NM_033028.5(BBS4):c.1356C>T (p.Thr452=)
NM_033028.5(BBS4):c.1377G>A (p.Gln459=)
NM_033028.5(BBS4):c.1450+11A>G
NM_033028.5(BBS4):c.1450+12C>G
NM_033028.5(BBS4):c.1450+17_1450+22del
NM_033028.5(BBS4):c.1450+7C>T
NM_033028.5(BBS4):c.1450+9A>G
NM_033028.5(BBS4):c.1451-14T>C
NM_033028.5(BBS4):c.1451-20A>C
NM_033028.5(BBS4):c.1451-20A>G
NM_033028.5(BBS4):c.1451-4C>T
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1451-7T>A
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys) rs561284402
NM_033028.5(BBS4):c.1494T>G (p.Pro498=) rs1186383384
NM_033028.5(BBS4):c.1515G>A (p.Val505=) rs2151058394
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
NM_033028.5(BBS4):c.1557A>G (p.Lys519=)
NM_033028.5(BBS4):c.156+10T>G
NM_033028.5(BBS4):c.156+12C>T
NM_033028.5(BBS4):c.156+14A>G
NM_033028.5(BBS4):c.156+9T>C rs749530632
NM_033028.5(BBS4):c.157-12T>G
NM_033028.5(BBS4):c.157-13C>T
NM_033028.5(BBS4):c.157-15T>G
NM_033028.5(BBS4):c.157-20C>G rs2151019478
NM_033028.5(BBS4):c.157-4T>C
NM_033028.5(BBS4):c.157-6T>C
NM_033028.5(BBS4):c.157-9C>G
NM_033028.5(BBS4):c.157-9C>T
NM_033028.5(BBS4):c.174G>A (p.Gln58=)
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys) rs1251827333
NM_033028.5(BBS4):c.189G>A (p.Gln63=) rs1447098604
NM_033028.5(BBS4):c.18C>A (p.Val6=)
NM_033028.5(BBS4):c.192A>T (p.Gly64=)
NM_033028.5(BBS4):c.210C>A (p.Ile70=)
NM_033028.5(BBS4):c.216C>T (p.Val72=)
NM_033028.5(BBS4):c.220+10A>G
NM_033028.5(BBS4):c.220+16_220+18del rs2151019680
NM_033028.5(BBS4):c.221-14C>T
NM_033028.5(BBS4):c.221-20T>C
NM_033028.5(BBS4):c.223T>C (p.Leu75=)
NM_033028.5(BBS4):c.237A>G (p.Leu79=)
NM_033028.5(BBS4):c.24+11A>T
NM_033028.5(BBS4):c.24+16C>T
NM_033028.5(BBS4):c.24+17T>C
NM_033028.5(BBS4):c.24+18C>T
NM_033028.5(BBS4):c.24+18_24+19del
NM_033028.5(BBS4):c.24+8C>A
NM_033028.5(BBS4):c.243A>G (p.Gly81=) rs2151023302
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
NM_033028.5(BBS4):c.25-16A>G
NM_033028.5(BBS4):c.258C>A (p.Ser86=)
NM_033028.5(BBS4):c.261A>G (p.Leu87=)
NM_033028.5(BBS4):c.267C>T (p.Leu89=)
NM_033028.5(BBS4):c.276A>C (p.Thr92=)
NM_033028.5(BBS4):c.306T>C (p.Asp102=) rs886706996
NM_033028.5(BBS4):c.332+14A>T rs980205433
NM_033028.5(BBS4):c.332+16del
NM_033028.5(BBS4):c.333-10T>C
NM_033028.5(BBS4):c.333-12T>C
NM_033028.5(BBS4):c.333-15A>C
NM_033028.5(BBS4):c.333-18A>G rs760730921
NM_033028.5(BBS4):c.333-20G>C
NM_033028.5(BBS4):c.333-9C>A
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
NM_033028.5(BBS4):c.354A>G (p.Lys118=)
NM_033028.5(BBS4):c.360C>T (p.Ala120=)
NM_033028.5(BBS4):c.369A>G (p.Val123=)
NM_033028.5(BBS4):c.39T>G (p.Pro13=) rs990984115
NM_033028.5(BBS4):c.406-16T>C
NM_033028.5(BBS4):c.406-4C>T rs2151032476
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
NM_033028.5(BBS4):c.459+13A>G
NM_033028.5(BBS4):c.459+15T>A
NM_033028.5(BBS4):c.460-15T>C
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
NM_033028.5(BBS4):c.472T>C (p.Leu158=)
NM_033028.5(BBS4):c.489T>C (p.Asn163=)
NM_033028.5(BBS4):c.48T>A (p.Thr16=)
NM_033028.5(BBS4):c.48T>G (p.Thr16=)
NM_033028.5(BBS4):c.495T>C (p.Asn165=)
NM_033028.5(BBS4):c.507G>A (p.Leu169=)
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
NM_033028.5(BBS4):c.531C>T (p.Ile177=) rs2065634194
NM_033028.5(BBS4):c.534C>T (p.His178=)
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
NM_033028.5(BBS4):c.555C>T (p.Asp185=) rs2151034397
NM_033028.5(BBS4):c.570C>G (p.Val190=)
NM_033028.5(BBS4):c.573C>T (p.Tyr191=) rs781012019
NM_033028.5(BBS4):c.57A>G (p.Gln19=)
NM_033028.5(BBS4):c.587+16T>A
NM_033028.5(BBS4):c.587+17C>A rs2151034479
NM_033028.5(BBS4):c.587+17_587+21del
NM_033028.5(BBS4):c.588-13C>T rs2151041174
NM_033028.5(BBS4):c.588-14T>C
NM_033028.5(BBS4):c.588-16C>T
NM_033028.5(BBS4):c.588-17G>T rs1023807138
NM_033028.5(BBS4):c.588-4G>T
NM_033028.5(BBS4):c.588-9_588-8del
NM_033028.5(BBS4):c.633C>G (p.Leu211=)
NM_033028.5(BBS4):c.636C>T (p.Tyr212=) rs1239795042
NM_033028.5(BBS4):c.642+11C>T
NM_033028.5(BBS4):c.642+12T>C
NM_033028.5(BBS4):c.642+13_642+14del
NM_033028.5(BBS4):c.642+14T>A
NM_033028.5(BBS4):c.642+14_642+20del rs886038705
NM_033028.5(BBS4):c.642+15_642+16del
NM_033028.5(BBS4):c.642+20C>T
NM_033028.5(BBS4):c.643-11T>C
NM_033028.5(BBS4):c.643-19T>C
NM_033028.5(BBS4):c.66G>A (p.Arg22=)
NM_033028.5(BBS4):c.6T>G (p.Ala2=)
NM_033028.5(BBS4):c.711+12TG[3] rs2065774442
NM_033028.5(BBS4):c.711+13del
NM_033028.5(BBS4):c.711+8A>T
NM_033028.5(BBS4):c.712-10A>G
NM_033028.5(BBS4):c.712-13G>A
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.726A>G (p.Ala242=) rs1567429245
NM_033028.5(BBS4):c.732C>T (p.Ser244=)
NM_033028.5(BBS4):c.744C>T (p.Thr248=)
NM_033028.5(BBS4):c.750G>A (p.Gly250=)
NM_033028.5(BBS4):c.76+10C>T
NM_033028.5(BBS4):c.76+16C>T
NM_033028.5(BBS4):c.76+17A>G
NM_033028.5(BBS4):c.76+19G>C
NM_033028.5(BBS4):c.76+7A>G rs2150997373
NM_033028.5(BBS4):c.77-17C>T rs2151016110
NM_033028.5(BBS4):c.77-4C>T
NM_033028.5(BBS4):c.789T>C (p.Ala263=)
NM_033028.5(BBS4):c.78T>A (p.Ala26=) rs2065330472
NM_033028.5(BBS4):c.837T>C (p.Cys279=)
NM_033028.5(BBS4):c.84G>A (p.Glu28=)
NM_033028.5(BBS4):c.858T>C (p.Tyr286=)
NM_033028.5(BBS4):c.861G>A (p.Val287=)
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
NM_033028.5(BBS4):c.864+20C>T rs753099644
NM_033028.5(BBS4):c.864+20_864+23del
NM_033028.5(BBS4):c.864+7G>A
NM_033028.5(BBS4):c.865-13T>C rs371241518
NM_033028.5(BBS4):c.865-16C>G
NM_033028.5(BBS4):c.865-5C>G rs2151047807
NM_033028.5(BBS4):c.865-5C>T
NM_033028.5(BBS4):c.870C>T (p.Ile290=)
NM_033028.5(BBS4):c.879G>T (p.Leu293=) rs2151047861
NM_033028.5(BBS4):c.885A>C (p.Arg295=)
NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
NM_033028.5(BBS4):c.921G>A (p.Leu307=)
NM_033028.5(BBS4):c.921G>C (p.Leu307=)
NM_033028.5(BBS4):c.927T>C (p.Asn309=)
NM_033028.5(BBS4):c.939C>T (p.Val313=)
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033028.5(BBS4):c.94T>C (p.Leu32=) rs771325848
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
NM_033028.5(BBS4):c.9G>A (p.Glu3=)
NM_033124.5(CCDC65):c.1026+12G>A
NM_033124.5(CCDC65):c.1026+14G>A
NM_033124.5(CCDC65):c.1074C>G (p.Thr358=) rs990994772
NM_033124.5(CCDC65):c.1098T>C (p.Phe366=)
NM_033124.5(CCDC65):c.111G>A (p.Arg37=)
NM_033124.5(CCDC65):c.1131G>A (p.Glu377=)
NM_033124.5(CCDC65):c.1155A>G (p.Glu385=)
NM_033124.5(CCDC65):c.1179+9del
NM_033124.5(CCDC65):c.1180-19C>T
NM_033124.5(CCDC65):c.1180-9C>T
NM_033124.5(CCDC65):c.133-13T>C rs2137532812
NM_033124.5(CCDC65):c.1348C>T (p.Leu450=) rs1297041489
NM_033124.5(CCDC65):c.1422C>T (p.Ala474=)
NM_033124.5(CCDC65):c.1434T>C (p.Asp478=)
NM_033124.5(CCDC65):c.1440A>G (p.Gln480=)
NM_033124.5(CCDC65):c.144C>T (p.Ala48=)
NM_033124.5(CCDC65):c.165T>C (p.Ala55=) rs2137532854
NM_033124.5(CCDC65):c.321C>G (p.Ser107=) rs543001409
NM_033124.5(CCDC65):c.339C>T (p.Tyr113=)
NM_033124.5(CCDC65):c.39C>T (p.Ser13=)
NM_033124.5(CCDC65):c.471-8T>G rs2137544568
NM_033124.5(CCDC65):c.609+13A>G
NM_033124.5(CCDC65):c.609+15T>C
NM_033124.5(CCDC65):c.609+16A>G
NM_033124.5(CCDC65):c.651C>T (p.Asn217=)
NM_033124.5(CCDC65):c.702T>C (p.Thr234=)
NM_033124.5(CCDC65):c.762C>T (p.Ser254=)
NM_033124.5(CCDC65):c.78G>A (p.Leu26=)
NM_033124.5(CCDC65):c.808-10G>A
NM_033124.5(CCDC65):c.808-20A>C
NM_033124.5(CCDC65):c.903T>C (p.Leu301=)
NM_033124.5(CCDC65):c.975C>T (p.Leu325=)
NM_052844.4(DYNC2I2):c.1045C>T (p.Leu349=) rs747050698
NM_052844.4(DYNC2I2):c.1062G>A (p.Thr354=)
NM_052844.4(DYNC2I2):c.106_107delinsTT (p.Gly36Leu) rs2132190369
NM_052844.4(DYNC2I2):c.1077G>A (p.Pro359=)
NM_052844.4(DYNC2I2):c.1089C>T (p.Ser363=)
NM_052844.4(DYNC2I2):c.1098T>C (p.Ala366=)
NM_052844.4(DYNC2I2):c.1125C>A (p.Pro375=)
NM_052844.4(DYNC2I2):c.1164C>T (p.Phe388=) rs1860339417
NM_052844.4(DYNC2I2):c.1173C>T (p.His391=)
NM_052844.4(DYNC2I2):c.1176C>T (p.Gly392=)
NM_052844.4(DYNC2I2):c.1182C>T (p.Pro394=)
NM_052844.4(DYNC2I2):c.1214+8G>A
NM_052844.4(DYNC2I2):c.1215-10T>C
NM_052844.4(DYNC2I2):c.1215-15C>T
NM_052844.4(DYNC2I2):c.1215-18C>G
NM_052844.4(DYNC2I2):c.1215-6G>A
NM_052844.4(DYNC2I2):c.1215-7C>G rs541309511
NM_052844.4(DYNC2I2):c.1215-7C>T
NM_052844.4(DYNC2I2):c.1242C>T (p.Asp414=)
NM_052844.4(DYNC2I2):c.1245G>A (p.Gly415=)
NM_052844.4(DYNC2I2):c.1251C>T (p.Val417=)
NM_052844.4(DYNC2I2):c.126C>T (p.Thr42=)
NM_052844.4(DYNC2I2):c.1275C>T (p.Ala425=)
NM_052844.4(DYNC2I2):c.1305C>G (p.Leu435=)
NM_052844.4(DYNC2I2):c.1311T>C (p.Tyr437=)
NM_052844.4(DYNC2I2):c.1345T>C (p.Leu449=)
NM_052844.4(DYNC2I2):c.1362C>A (p.Ala454=)
NM_052844.4(DYNC2I2):c.1362C>T (p.Ala454=)
NM_052844.4(DYNC2I2):c.1372+10G>C rs1023019503
NM_052844.4(DYNC2I2):c.1372+12_1372+18del rs1038611808
NM_052844.4(DYNC2I2):c.1372+13C>A
NM_052844.4(DYNC2I2):c.1372+13C>T
NM_052844.4(DYNC2I2):c.1372+13dup
NM_052844.4(DYNC2I2):c.1372+16T>A
NM_052844.4(DYNC2I2):c.1372+19G>A
NM_052844.4(DYNC2I2):c.1372+20C>A
NM_052844.4(DYNC2I2):c.1373-12CT[2]
NM_052844.4(DYNC2I2):c.1373-14G>C
NM_052844.4(DYNC2I2):c.1373-16_1373-15del
NM_052844.4(DYNC2I2):c.1395C>T (p.Leu465=)
NM_052844.4(DYNC2I2):c.1437C>T (p.Thr479=)
NM_052844.4(DYNC2I2):c.1449C>T (p.Ser483=)
NM_052844.4(DYNC2I2):c.1458C>T (p.Tyr486=)
NM_052844.4(DYNC2I2):c.1461T>C (p.Cys487=)
NM_052844.4(DYNC2I2):c.1467G>A (p.Glu489=)
NM_052844.4(DYNC2I2):c.1503C>T (p.Gly501=)
NM_052844.4(DYNC2I2):c.150G>T (p.Ser50=)
NM_052844.4(DYNC2I2):c.1515C>A (p.Gly505=)
NM_052844.4(DYNC2I2):c.1536G>A (p.Leu512=)
NM_052844.4(DYNC2I2):c.153G>A (p.Gln51=)
NM_052844.4(DYNC2I2):c.1564C>A (p.Arg522=)
NM_052844.4(DYNC2I2):c.15G>A (p.Ala5=)
NM_052844.4(DYNC2I2):c.186+15C>T
NM_052844.4(DYNC2I2):c.186+17C>T rs570556602
NM_052844.4(DYNC2I2):c.186+7G>C
NM_052844.4(DYNC2I2):c.187-11C>T
NM_052844.4(DYNC2I2):c.187-18_187-17insTTGTA
NM_052844.4(DYNC2I2):c.201G>A (p.Thr67=) rs2132156412
NM_052844.4(DYNC2I2):c.21G>A (p.Pro7=)
NM_052844.4(DYNC2I2):c.21G>C (p.Pro7=)
NM_052844.4(DYNC2I2):c.252C>T (p.Asp84=)
NM_052844.4(DYNC2I2):c.267G>A (p.Thr89=)
NM_052844.4(DYNC2I2):c.273C>T (p.Ala91=)
NM_052844.4(DYNC2I2):c.27A>T (p.Pro9=)
NM_052844.4(DYNC2I2):c.285C>G (p.Val95=)
NM_052844.4(DYNC2I2):c.288C>T (p.Ser96=)
NM_052844.4(DYNC2I2):c.300G>A (p.Pro100=)
NM_052844.4(DYNC2I2):c.312C>T (p.Asp104=)
NM_052844.4(DYNC2I2):c.324C>G (p.Leu108=)
NM_052844.4(DYNC2I2):c.324C>T (p.Leu108=) rs199987486
NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)
NM_052844.4(DYNC2I2):c.337C>A (p.Arg113=)
NM_052844.4(DYNC2I2):c.360C>T (p.Ile120=)
NM_052844.4(DYNC2I2):c.420C>G (p.Thr140=) rs541654387
NM_052844.4(DYNC2I2):c.435+11G>A rs202171371
NM_052844.4(DYNC2I2):c.435+12G>C
NM_052844.4(DYNC2I2):c.435+16dup
NM_052844.4(DYNC2I2):c.436-19G>A
NM_052844.4(DYNC2I2):c.436-19G>C
NM_052844.4(DYNC2I2):c.436-20G>C rs1206177711
NM_052844.4(DYNC2I2):c.436-4G>T
NM_052844.4(DYNC2I2):c.436-5C>T
NM_052844.4(DYNC2I2):c.45C>T (p.Ser15=)
NM_052844.4(DYNC2I2):c.465G>A (p.Pro155=)
NM_052844.4(DYNC2I2):c.474A>G (p.Gln158=)
NM_052844.4(DYNC2I2):c.546-12G>A
NM_052844.4(DYNC2I2):c.546-15C>A
NM_052844.4(DYNC2I2):c.555T>C (p.His185=)
NM_052844.4(DYNC2I2):c.570G>A (p.Thr190=)
NM_052844.4(DYNC2I2):c.582C>T (p.Phe194=)
NM_052844.4(DYNC2I2):c.621C>G (p.Pro207=)
NM_052844.4(DYNC2I2):c.636C>T (p.Ala212=)
NM_052844.4(DYNC2I2):c.657T>C (p.Ala219=)
NM_052844.4(DYNC2I2):c.663G>T (p.Leu221=)
NM_052844.4(DYNC2I2):c.703+10C>T
NM_052844.4(DYNC2I2):c.703+13C>T
NM_052844.4(DYNC2I2):c.703+17G>A
NM_052844.4(DYNC2I2):c.72C>T (p.Val24=)
NM_052844.4(DYNC2I2):c.780G>A (p.Leu260=)
NM_052844.4(DYNC2I2):c.783G>A (p.Thr261=)
NM_052844.4(DYNC2I2):c.795C>T (p.His265=)
NM_052844.4(DYNC2I2):c.813+11G>A
NM_052844.4(DYNC2I2):c.813+12G>A
NM_052844.4(DYNC2I2):c.813+17C>T
NM_052844.4(DYNC2I2):c.813+19G>A rs368089184
NM_052844.4(DYNC2I2):c.813+19G>T
NM_052844.4(DYNC2I2):c.814-10G>T
NM_052844.4(DYNC2I2):c.814-8T>C rs1441872910
NM_052844.4(DYNC2I2):c.81G>C (p.Ala27=)
NM_052844.4(DYNC2I2):c.834T>A (p.Pro278=)
NM_052844.4(DYNC2I2):c.84C>T (p.Ser28=)
NM_052844.4(DYNC2I2):c.855G>A (p.Gln285=)
NM_052844.4(DYNC2I2):c.858G>A (p.Val286=)
NM_052844.4(DYNC2I2):c.888A>C (p.Leu296=)
NM_052844.4(DYNC2I2):c.903C>T (p.Ile301=) rs369977994
NM_052844.4(DYNC2I2):c.906G>A (p.Gly302=)
NM_052844.4(DYNC2I2):c.906G>T (p.Gly302=)
NM_052844.4(DYNC2I2):c.927A>G (p.Thr309=)
NM_052844.4(DYNC2I2):c.936C>T (p.Phe312=)
NM_052844.4(DYNC2I2):c.981+12C>T
NM_052844.4(DYNC2I2):c.981+14C>T
NM_052844.4(DYNC2I2):c.982-12A>G
NM_052844.4(DYNC2I2):c.982-9T>C
NM_080860.4(RSPH1):c.109C>A (p.Arg37=)
NM_080860.4(RSPH1):c.111G>A (p.Arg37=)
NM_080860.4(RSPH1):c.169-25_169-17del
NM_080860.4(RSPH1):c.18G>C (p.Ser6=)
NM_080860.4(RSPH1):c.274+11A>G
NM_080860.4(RSPH1):c.274+13C>G
NM_080860.4(RSPH1):c.300C>T (p.His100=)
NM_080860.4(RSPH1):c.306T>C (p.His102=)
NM_080860.4(RSPH1):c.309C>T (p.Gly103=)
NM_080860.4(RSPH1):c.365+10C>T rs962821435
NM_080860.4(RSPH1):c.366-17C>T
NM_080860.4(RSPH1):c.372G>A (p.Gly124=)
NM_080860.4(RSPH1):c.429C>T (p.Asn143=)
NM_080860.4(RSPH1):c.501+13G>A
NM_080860.4(RSPH1):c.501+17T>C
NM_080860.4(RSPH1):c.502-4G>A
NM_080860.4(RSPH1):c.537G>T (p.Gly179=)
NM_080860.4(RSPH1):c.549T>C (p.His183=) rs780989649
NM_080860.4(RSPH1):c.55-4C>G rs1196582041
NM_080860.4(RSPH1):c.55-5C>A rs756723653
NM_080860.4(RSPH1):c.573+10G>A
NM_080860.4(RSPH1):c.637C>A (p.Gln213Lys) rs146298259
NM_080860.4(RSPH1):c.648A>G (p.Glu216=) rs2054078510
NM_080860.4(RSPH1):c.655C>T (p.Leu219=)
NM_080860.4(RSPH1):c.6G>C (p.Ser2=)
NM_080860.4(RSPH1):c.705C>T (p.Gly235=)
NM_080860.4(RSPH1):c.727+11C>A
NM_080860.4(RSPH1):c.727+11_727+83del
NM_080860.4(RSPH1):c.727+15C>G rs202146973
NM_080860.4(RSPH1):c.727+18_727+19insGGGCACCCCCGGGTGTGGGGTGGAGGGGGCAGAGGGTGTA
NM_080860.4(RSPH1):c.727+20T>G
NM_080860.4(RSPH1):c.728-20T>G
NM_080860.4(RSPH1):c.795G>A (p.Arg265=) rs2054043655
NM_080860.4(RSPH1):c.816C>T (p.Asp272=)
NM_080860.4(RSPH1):c.819C>T (p.Val273=) rs1555875193
NM_080860.4(RSPH1):c.84C>T (p.Gly28=)
NM_080860.4(RSPH1):c.877+14G>A
NM_080860.4(RSPH1):c.878-4T>G
NM_080860.4(RSPH1):c.912G>A (p.Gln304=)
NM_144596.4(TTC8):c.1049+11C>T rs762777832
NM_144596.4(TTC8):c.1049+7T>G
NM_144596.4(TTC8):c.1050-13C>G
NM_144596.4(TTC8):c.1050-20G>A
NM_144596.4(TTC8):c.1071T>A (p.Ile357=)
NM_144596.4(TTC8):c.1101G>C (p.Gly367=) rs2141036668
NM_144596.4(TTC8):c.1125G>A (p.Gln375=) rs2141036744
NM_144596.4(TTC8):c.114+15C>G
NM_144596.4(TTC8):c.114+19C>T
NM_144596.4(TTC8):c.114+7G>C
NM_144596.4(TTC8):c.1224+15T>C rs777976437
NM_144596.4(TTC8):c.1224+15T>G
NM_144596.4(TTC8):c.1224+20T>C
NM_144596.4(TTC8):c.1224+8G>T
NM_144596.4(TTC8):c.1225-12T>C
NM_144596.4(TTC8):c.1225-18A>G
NM_144596.4(TTC8):c.1225-4G>T rs2094937777
NM_144596.4(TTC8):c.1233A>T (p.Gly411=)
NM_144596.4(TTC8):c.1281C>T (p.Asn427=)
NM_144596.4(TTC8):c.1308C>T (p.Asn436=) rs756352262
NM_144596.4(TTC8):c.1327C>A (p.Arg443=) rs140698625
NM_144596.4(TTC8):c.1347+7G>C rs774856265
NM_144596.4(TTC8):c.1356A>G (p.Ala452=) rs2141044281
NM_144596.4(TTC8):c.1401G>T (p.Pro467=)
NM_144596.4(TTC8):c.1431+10T>G
NM_144596.4(TTC8):c.1431+20_1431+24del
NM_144596.4(TTC8):c.1431+8C>G
NM_144596.4(TTC8):c.1449A>G (p.Arg483=)
NM_144596.4(TTC8):c.1452C>T (p.Ser484=) rs1353769883
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.1503A>G (p.Thr501=) rs1754480274
NM_144596.4(TTC8):c.1530G>A (p.Gln510=)
NM_144596.4(TTC8):c.156C>T (p.Ile52=) rs2140973252
NM_144596.4(TTC8):c.174A>G (p.Leu58=)
NM_144596.4(TTC8):c.177A>G (p.Thr59=)
NM_144596.4(TTC8):c.222T>C (p.Ile74=)
NM_144596.4(TTC8):c.265+19G>C
NM_144596.4(TTC8):c.265+8T>G rs182898340
NM_144596.4(TTC8):c.266-10del rs759785529
NM_144596.4(TTC8):c.266-4C>A
NM_144596.4(TTC8):c.276G>A (p.Thr92=)
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.329+11C>G
NM_144596.4(TTC8):c.329+12T>C rs2140976349
NM_144596.4(TTC8):c.329+18A>G
NM_144596.4(TTC8):c.354C>A (p.Pro118=) rs2140976722
NM_144596.4(TTC8):c.366C>T (p.Phe122=)
NM_144596.4(TTC8):c.375C>T (p.Pro125=)
NM_144596.4(TTC8):c.381G>A (p.Thr127=)
NM_144596.4(TTC8):c.390A>G (p.Gly130=)
NM_144596.4(TTC8):c.432C>A (p.Thr144=) rs748561167
NM_144596.4(TTC8):c.438C>T (p.Tyr146=) rs2140977060
NM_144596.4(TTC8):c.465C>G (p.Ser155=)
NM_144596.4(TTC8):c.477C>T (p.Val159=)
NM_144596.4(TTC8):c.490-9C>A rs770386094
NM_144596.4(TTC8):c.490-9C>T rs770386094
NM_144596.4(TTC8):c.507T>C (p.Ser169=)
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.52A>C (p.Arg18=)
NM_144596.4(TTC8):c.552G>A (p.Lys184=) rs2094781397
NM_144596.4(TTC8):c.579+19T>G
NM_144596.4(TTC8):c.579+7A>G rs2140977991
NM_144596.4(TTC8):c.585G>A (p.Leu195=)
NM_144596.4(TTC8):c.624+19C>G
NM_144596.4(TTC8):c.624+8T>C rs2140982585
NM_144596.4(TTC8):c.625-20A>G
NM_144596.4(TTC8):c.69C>T (p.Cys23=) rs749406406
NM_144596.4(TTC8):c.711-13T>C
NM_144596.4(TTC8):c.729A>G (p.Glu243=)
NM_144596.4(TTC8):c.738A>G (p.Lys246=)
NM_144596.4(TTC8):c.777T>C (p.Asp259=) rs1164321723
NM_144596.4(TTC8):c.784C>T (p.Leu262=)
NM_144596.4(TTC8):c.786G>A (p.Leu262=) rs2094861022
NM_144596.4(TTC8):c.789C>T (p.Tyr263=)
NM_144596.4(TTC8):c.799-10T>C
NM_144596.4(TTC8):c.799-20G>T
NM_144596.4(TTC8):c.810A>C (p.Ser270=)
NM_144596.4(TTC8):c.864T>C (p.Phe288=)
NM_144596.4(TTC8):c.882G>A (p.Leu294=)
NM_144596.4(TTC8):c.903C>T (p.Ile301=) rs2141016259
NM_144596.4(TTC8):c.909+10G>A rs1566851784
NM_144596.4(TTC8):c.942T>C (p.Tyr314=) rs1340345868
NM_144596.4(TTC8):c.948A>G (p.Lys316=)
NM_144596.4(TTC8):c.96G>A (p.Glu32=)
NM_145038.5(DRC1):c.1008G>A (p.Gln336=)
NM_145038.5(DRC1):c.1028+10C>A rs1663692485
NM_145038.5(DRC1):c.1028+10C>G rs1663692485
NM_145038.5(DRC1):c.1028+12T>C
NM_145038.5(DRC1):c.1028+18G>A
NM_145038.5(DRC1):c.1028+19C>T
NM_145038.5(DRC1):c.1029-4C>T
NM_145038.5(DRC1):c.1029-7C>T
NM_145038.5(DRC1):c.1110C>G (p.Thr370=)
NM_145038.5(DRC1):c.1163+10G>A
NM_145038.5(DRC1):c.1163+15T>C
NM_145038.5(DRC1):c.1164-19C>G
NM_145038.5(DRC1):c.1164-9C>T
NM_145038.5(DRC1):c.1207C>T (p.Leu403=)
NM_145038.5(DRC1):c.1221G>A (p.Glu407=)
NM_145038.5(DRC1):c.1263G>A (p.Arg421=) rs778963656
NM_145038.5(DRC1):c.1281T>C (p.His427=) rs528460521
NM_145038.5(DRC1):c.1284G>A (p.Leu428=)
NM_145038.5(DRC1):c.1329T>C (p.Val443=)
NM_145038.5(DRC1):c.1350C>T (p.Pro450=)
NM_145038.5(DRC1):c.1392C>T (p.Arg464=)
NM_145038.5(DRC1):c.1396+19T>A
NM_145038.5(DRC1):c.1397-11C>T
NM_145038.5(DRC1):c.1397-16_1397-15inv
NM_145038.5(DRC1):c.1397-20T>G
NM_145038.5(DRC1):c.1452G>A (p.Pro484=) rs1417232935
NM_145038.5(DRC1):c.1461T>C (p.Ile487=) rs1167700043
NM_145038.5(DRC1):c.1470A>G (p.Lys490=)
NM_145038.5(DRC1):c.1509+10G>A rs947858109
NM_145038.5(DRC1):c.1509+11G>A
NM_145038.5(DRC1):c.1509+13G>A
NM_145038.5(DRC1):c.1518C>T (p.Leu506=)
NM_145038.5(DRC1):c.155+12G>C
NM_145038.5(DRC1):c.156-7A>C
NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe)
NM_145038.5(DRC1):c.1599+11C>T
NM_145038.5(DRC1):c.1600-8C>T
NM_145038.5(DRC1):c.1620G>A (p.Glu540=)
NM_145038.5(DRC1):c.1650C>T (p.Phe550=)
NM_145038.5(DRC1):c.1689+11G>A
NM_145038.5(DRC1):c.1689+12T>G
NM_145038.5(DRC1):c.1689+20G>A rs1663981941
NM_145038.5(DRC1):c.1690-10C>T rs778847128
NM_145038.5(DRC1):c.1690-17C>G
NM_145038.5(DRC1):c.1690-17C>T
NM_145038.5(DRC1):c.1690-6C>T
NM_145038.5(DRC1):c.1720_1734del (p.Lys574_Glu578del) rs878855222
NM_145038.5(DRC1):c.174T>C (p.Tyr58=)
NM_145038.5(DRC1):c.1756T>C (p.Leu586=)
NM_145038.5(DRC1):c.1815G>A (p.Gly605=) rs748482443
NM_145038.5(DRC1):c.1839C>T (p.Thr613=)
NM_145038.5(DRC1):c.1887G>A (p.Leu629=)
NM_145038.5(DRC1):c.1919+7T>C
NM_145038.5(DRC1):c.1920-13T>C
NM_145038.5(DRC1):c.1920-14C>T
NM_145038.5(DRC1):c.1920-15G>A
NM_145038.5(DRC1):c.1920-20A>G
NM_145038.5(DRC1):c.1935G>C (p.Pro645=) rs561986345
NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys) rs139106371
NM_145038.5(DRC1):c.1965C>T (p.Asn655=) rs201930229
NM_145038.5(DRC1):c.1980G>A (p.Glu660=)
NM_145038.5(DRC1):c.2037C>A (p.Ala679=) rs759791684
NM_145038.5(DRC1):c.2049C>G (p.Ala683=)
NM_145038.5(DRC1):c.2064-10C>T
NM_145038.5(DRC1):c.2064-17G>A
NM_145038.5(DRC1):c.2064-18C>T
NM_145038.5(DRC1):c.2100A>G (p.Glu700=)
NM_145038.5(DRC1):c.2166+10G>T
NM_145038.5(DRC1):c.2166+11G>T
NM_145038.5(DRC1):c.2166+7G>A
NM_145038.5(DRC1):c.2167-13C>G
NM_145038.5(DRC1):c.2167-20T>A
NM_145038.5(DRC1):c.2172C>T (p.Asn724=)
NM_145038.5(DRC1):c.2202G>T (p.Val734=)
NM_145038.5(DRC1):c.243+10G>C
NM_145038.5(DRC1):c.243+9T>C rs1476611473
NM_145038.5(DRC1):c.244-14dup
NM_145038.5(DRC1):c.244-16A>G
NM_145038.5(DRC1):c.270C>T (p.Gly90=)
NM_145038.5(DRC1):c.300T>C (p.Ala100=)
NM_145038.5(DRC1):c.357-15T>A rs1188964676
NM_145038.5(DRC1):c.367C>T (p.Leu123=) rs1378377620
NM_145038.5(DRC1):c.411C>A (p.Ile137=)
NM_145038.5(DRC1):c.471C>T (p.Leu157=) rs1663228984
NM_145038.5(DRC1):c.495T>A (p.Ala165=) rs7423300
NM_145038.5(DRC1):c.537G>A (p.Gln179=) rs2147987459
NM_145038.5(DRC1):c.541-14A>G
NM_145038.5(DRC1):c.603C>T (p.Cys201=)
NM_145038.5(DRC1):c.660G>A (p.Glu220=)
NM_145038.5(DRC1):c.678+17A>G
NM_145038.5(DRC1):c.678+8G>A rs1558443964
NM_145038.5(DRC1):c.717T>C (p.Ser239=) rs772316882
NM_145038.5(DRC1):c.765+15C>T
NM_145038.5(DRC1):c.765+17G>A
NM_145038.5(DRC1):c.765+19C>G
NM_145038.5(DRC1):c.766-13C>T
NM_145038.5(DRC1):c.766-7C>T
NM_145038.5(DRC1):c.870G>A (p.Lys290=) rs765263654
NM_145038.5(DRC1):c.87C>G (p.Ser29=)
NM_145038.5(DRC1):c.889-15T>C
NM_145038.5(DRC1):c.918A>G (p.Lys306=)
NM_145038.5(DRC1):c.98A>G (p.Gln33Arg)
NM_145038.5(DRC1):c.996A>G (p.Val332=)
NM_145038.5(DRC1):c.9G>T (p.Pro3=) rs950686026
NM_145045.5(ODAD3):c.1002C>T (p.Thr334=)
NM_145045.5(ODAD3):c.1029G>A (p.Glu343=)
NM_145045.5(ODAD3):c.1104T>C (p.Thr368=)
NM_145045.5(ODAD3):c.1116+14G>T
NM_145045.5(ODAD3):c.1117-5C>T
NM_145045.5(ODAD3):c.1137G>A (p.Leu379=)
NM_145045.5(ODAD3):c.1164G>A (p.Leu388=)
NM_145045.5(ODAD3):c.1170G>T (p.Thr390=) rs1168378766
NM_145045.5(ODAD3):c.1185C>T (p.Asn395=) rs1599453142
NM_145045.5(ODAD3):c.1195T>C (p.Leu399=)
NM_145045.5(ODAD3):c.1239G>A (p.Leu413=)
NM_145045.5(ODAD3):c.1239G>C (p.Leu413=)
NM_145045.5(ODAD3):c.1275G>A (p.Val425=) rs1555721612
NM_145045.5(ODAD3):c.1287A>G (p.Lys429=)
NM_145045.5(ODAD3):c.1314C>T (p.Leu438=)
NM_145045.5(ODAD3):c.1317G>A (p.Lys439=)
NM_145045.5(ODAD3):c.1389G>A (p.Lys463=)
NM_145045.5(ODAD3):c.138G>A (p.Gln46=)
NM_145045.5(ODAD3):c.1435-15C>A
NM_145045.5(ODAD3):c.1435-16T>C
NM_145045.5(ODAD3):c.1435-19G>C
NM_145045.5(ODAD3):c.1435-20C>T
NM_145045.5(ODAD3):c.1440C>T (p.Asp480=)
NM_145045.5(ODAD3):c.1452G>A (p.Ala484=)
NM_145045.5(ODAD3):c.1500G>A (p.Leu500=)
NM_145045.5(ODAD3):c.1519C>T (p.Leu507=)
NM_145045.5(ODAD3):c.1554C>T (p.Asp518=)
NM_145045.5(ODAD3):c.1557G>A (p.Val519=)
NM_145045.5(ODAD3):c.1590+8G>A
NM_145045.5(ODAD3):c.1590+9C>T
NM_145045.5(ODAD3):c.1602C>T (p.Ser534=)
NM_145045.5(ODAD3):c.1605A>G (p.Leu535=)
NM_145045.5(ODAD3):c.1647C>T (p.Pro549=)
NM_145045.5(ODAD3):c.1653C>T (p.Ala551=)
NM_145045.5(ODAD3):c.1675+11G>A
NM_145045.5(ODAD3):c.1675+12T>A
NM_145045.5(ODAD3):c.1676-17C>G
NM_145045.5(ODAD3):c.1713C>T (p.Thr571=)
NM_145045.5(ODAD3):c.180A>G (p.Arg60=) rs1599472793
NM_145045.5(ODAD3):c.183T>C (p.Gly61=)
NM_145045.5(ODAD3):c.189G>C (p.Gly63=)
NM_145045.5(ODAD3):c.244+12_244+20del rs2144790321
NM_145045.5(ODAD3):c.245-17C>A
NM_145045.5(ODAD3):c.321C>A (p.Arg107=)
NM_145045.5(ODAD3):c.351G>C (p.Leu117=)
NM_145045.5(ODAD3):c.367-11C>G
NM_145045.5(ODAD3):c.367-19T>C
NM_145045.5(ODAD3):c.367-9T>C
NM_145045.5(ODAD3):c.399C>T (p.Arg133=)
NM_145045.5(ODAD3):c.444+15G>A
NM_145045.5(ODAD3):c.444+8C>T rs1381847420
NM_145045.5(ODAD3):c.445-13C>T
NM_145045.5(ODAD3):c.445-15C>G rs1229396067
NM_145045.5(ODAD3):c.445-19G>T
NM_145045.5(ODAD3):c.445-20C>T
NM_145045.5(ODAD3):c.457C>T (p.Leu153=)
NM_145045.5(ODAD3):c.555C>T (p.His185=)
NM_145045.5(ODAD3):c.612+20G>A
NM_145045.5(ODAD3):c.613-18_613-14del
NM_145045.5(ODAD3):c.613-20C>A
NM_145045.5(ODAD3):c.621G>A (p.Arg207=)
NM_145045.5(ODAD3):c.714+15G>T
NM_145045.5(ODAD3):c.714+18T>C
NM_145045.5(ODAD3):c.714+8C>G
NM_145045.5(ODAD3):c.715-6C>T
NM_145045.5(ODAD3):c.726C>G (p.Leu242=) rs1015354057
NM_145045.5(ODAD3):c.819C>A (p.Leu273=)
NM_145045.5(ODAD3):c.825C>T (p.Ala275=) rs932609952
NM_145045.5(ODAD3):c.840+9C>T rs2144771551
NM_145045.5(ODAD3):c.841-10C>T rs376844589
NM_145045.5(ODAD3):c.841-20C>T
NM_145045.5(ODAD3):c.852G>A (p.Gln284=)
NM_145045.5(ODAD3):c.888G>A (p.Lys296=) rs2144771020
NM_145045.5(ODAD3):c.900C>T (p.Tyr300=)
NM_145045.5(ODAD3):c.924C>T (p.Ala308=)
NM_145045.5(ODAD3):c.963+9A>G
NM_145045.5(ODAD3):c.964-19G>T rs774452185
NM_145045.5(ODAD3):c.972C>T (p.Arg324=)
NM_145045.5(ODAD3):c.987A>G (p.Leu329=)
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
NM_147127.5(EVC2):c.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
NM_147127.5(EVC2):c.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_152259.4(TICRR):c.*911dup rs113145397
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
NM_152384.3(BBS5):c.1023T>C (p.Ser341=) rs1488371231
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
NM_152384.3(BBS5):c.142+19G>A
NM_152384.3(BBS5):c.142+3_142+10dup rs1476627714
NM_152384.3(BBS5):c.142+9A>G rs2105291758
NM_152384.3(BBS5):c.143-12G>C
NM_152384.3(BBS5):c.143-13TG[2]
NM_152384.3(BBS5):c.143-19T>C
NM_152384.3(BBS5):c.143-7C>T rs1574336588
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
NM_152384.3(BBS5):c.174C>G (p.Leu58=) rs1683499085
NM_152384.3(BBS5):c.180C>T (p.His60=)
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
NM_152384.3(BBS5):c.18G>T (p.Ala6=)
NM_152384.3(BBS5):c.208+13G>T
NM_152384.3(BBS5):c.209-17T>C
NM_152384.3(BBS5):c.209-19C>T
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
NM_152384.3(BBS5):c.219C>T (p.Tyr73=) rs2105294702
NM_152384.3(BBS5):c.237T>C (p.Ile79=)
NM_152384.3(BBS5):c.246G>A (p.Arg82=)
NM_152384.3(BBS5):c.255C>T (p.Asn85=)
NM_152384.3(BBS5):c.258+14A>G
NM_152384.3(BBS5):c.258+19A>G
NM_152384.3(BBS5):c.258+7C>G
NM_152384.3(BBS5):c.259-10_259-6dup
NM_152384.3(BBS5):c.259-12T>A
NM_152384.3(BBS5):c.259-13T>A
NM_152384.3(BBS5):c.259-7C>G
NM_152384.3(BBS5):c.259-8C>T
NM_152384.3(BBS5):c.342T>G (p.Val114=)
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
NM_152384.3(BBS5):c.381A>T (p.Val127=)
NM_152384.3(BBS5):c.386+10T>C
NM_152384.3(BBS5):c.386+11A>G
NM_152384.3(BBS5):c.386+13T>C
NM_152384.3(BBS5):c.387-10T>G
NM_152384.3(BBS5):c.387-14del
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152384.3(BBS5):c.387-18G>C
NM_152384.3(BBS5):c.387-4A>T
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
NM_152384.3(BBS5):c.45C>T (p.Phe15=)
NM_152384.3(BBS5):c.477T>C (p.His159=)
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
NM_152384.3(BBS5):c.522+10A>G
NM_152384.3(BBS5):c.522+8G>A
NM_152384.3(BBS5):c.523-4A>G
NM_152384.3(BBS5):c.531A>G (p.Leu177=) rs2105298185
NM_152384.3(BBS5):c.54C>A (p.Ser18=)
NM_152384.3(BBS5):c.54C>G (p.Ser18=)
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
NM_152384.3(BBS5):c.57G>T (p.Ala19=) rs2105290048
NM_152384.3(BBS5):c.59+12A>G
NM_152384.3(BBS5):c.59+13G>T
NM_152384.3(BBS5):c.59+13del
NM_152384.3(BBS5):c.59+19C>A
NM_152384.3(BBS5):c.60-11A>G
NM_152384.3(BBS5):c.60-14T>C
NM_152384.3(BBS5):c.60-17C>T
NM_152384.3(BBS5):c.60-19A>G rs2105291694
NM_152384.3(BBS5):c.60-19A>T
NM_152384.3(BBS5):c.60-7A>T
NM_152384.3(BBS5):c.60-9T>G
NM_152384.3(BBS5):c.618+10T>C
NM_152384.3(BBS5):c.618+11dup
NM_152384.3(BBS5):c.618+12C>A
NM_152384.3(BBS5):c.618+12C>T
NM_152384.3(BBS5):c.618+14_618+18del rs2105298276
NM_152384.3(BBS5):c.618+20T>A rs2105298279
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152384.3(BBS5):c.619-19_619-14del rs776922529
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
NM_152384.3(BBS5):c.681+10T>G
NM_152384.3(BBS5):c.681+13A>G
NM_152384.3(BBS5):c.681+15A>C
NM_152384.3(BBS5):c.681+15A>G rs1262881139
NM_152384.3(BBS5):c.681+19T>C
NM_152384.3(BBS5):c.681+8C>G
NM_152384.3(BBS5):c.682-16A>T
NM_152384.3(BBS5):c.682-20T>A
NM_152384.3(BBS5):c.682-5T>C rs1256635364
NM_152384.3(BBS5):c.682-6T>A
NM_152384.3(BBS5):c.682-7C>A
NM_152384.3(BBS5):c.682-9C>A
NM_152384.3(BBS5):c.6G>A (p.Ser2=)
NM_152384.3(BBS5):c.6G>C (p.Ser2=)
NM_152384.3(BBS5):c.708A>G (p.Lys236=)
NM_152384.3(BBS5):c.720G>A (p.Val240=)
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
NM_152384.3(BBS5):c.816+15A>T
NM_152384.3(BBS5):c.816+17G>A
NM_152384.3(BBS5):c.816+7T>C
NM_152384.3(BBS5):c.825G>T (p.Pro275=)
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
NM_152384.3(BBS5):c.843C>T (p.Val281=)
NM_152384.3(BBS5):c.855A>G (p.Gln285=)
NM_152384.3(BBS5):c.867A>G (p.Glu289=) rs767142551
NM_152384.3(BBS5):c.873C>T (p.Asp291=) rs924567585
NM_152384.3(BBS5):c.885C>T (p.His295=) rs752240452
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
NM_152384.3(BBS5):c.900+9C>A
NM_152384.3(BBS5):c.901-11T>G
NM_152384.3(BBS5):c.901-6T>C
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
NM_152384.3(BBS5):c.924+11T>G
NM_152384.3(BBS5):c.924+12T>A
NM_152384.3(BBS5):c.924+16T>G
NM_152384.3(BBS5):c.925-19C>G
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
NM_152384.3(BBS5):c.966T>G (p.Leu322=) rs1683865980
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
NM_152384.3(BBS5):c.999A>G (p.Leu333=)
NM_152618.3(BBS12):c.1002T>C (p.Tyr334=) rs2150736743
NM_152618.3(BBS12):c.1005C>A (p.Ile335=)
NM_152618.3(BBS12):c.1014G>A (p.Val338=)
NM_152618.3(BBS12):c.1020A>G (p.Val340=)
NM_152618.3(BBS12):c.1020A>T (p.Val340=)
NM_152618.3(BBS12):c.1026T>C (p.Asn342=)
NM_152618.3(BBS12):c.1045T>C (p.Leu349=)
NM_152618.3(BBS12):c.1047G>A (p.Leu349=) rs1800907366
NM_152618.3(BBS12):c.1053T>C (p.Asn351=)
NM_152618.3(BBS12):c.1062G>A (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1083T>A (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.1083T>G (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.108C>A (p.Ser36=)
NM_152618.3(BBS12):c.1095G>A (p.Glu365=) rs569907220
NM_152618.3(BBS12):c.1098T>C (p.Asn366=) rs2150736872
NM_152618.3(BBS12):c.1134T>A (p.Ile378=)
NM_152618.3(BBS12):c.1140A>C (p.Thr380=)
NM_152618.3(BBS12):c.1185G>T (p.Leu395=)
NM_152618.3(BBS12):c.1209G>C (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1224G>A (p.Lys408=)
NM_152618.3(BBS12):c.1227G>C (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1233T>C (p.Leu411=)
NM_152618.3(BBS12):c.1239G>A (p.Leu413=)
NM_152618.3(BBS12):c.1251T>C (p.Asn417=)
NM_152618.3(BBS12):c.1254G>T (p.Val418=) rs2150737077
NM_152618.3(BBS12):c.1264T>C (p.Leu422=) rs2150737086
NM_152618.3(BBS12):c.129A>G (p.Glu43=) rs2150735912
NM_152618.3(BBS12):c.12T>C (p.Ala4=) rs1578489401
NM_152618.3(BBS12):c.1302C>A (p.Ile434=)
NM_152618.3(BBS12):c.1305C>T (p.Gly435=)
NM_152618.3(BBS12):c.1314T>C (p.Asn438=)
NM_152618.3(BBS12):c.1317C>A (p.Gly439=)
NM_152618.3(BBS12):c.1320T>C (p.Ser440=) rs2150737145
NM_152618.3(BBS12):c.1356A>G (p.Val452=) rs1264207326
NM_152618.3(BBS12):c.135T>C (p.His45=) rs916863378
NM_152618.3(BBS12):c.1362G>T (p.Val454=) rs1800918797
NM_152618.3(BBS12):c.1365C>A (p.Ala455=) rs1191099924
NM_152618.3(BBS12):c.1368C>T (p.Tyr456=) rs2150737194
NM_152618.3(BBS12):c.1380G>A (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1386A>G (p.Glu462=)
NM_152618.3(BBS12):c.1389T>C (p.Asp463=) rs1578491378
NM_152618.3(BBS12):c.1395G>A (p.Val465=) rs2150737249
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1407C>G (p.Val469=) rs1800921145
NM_152618.3(BBS12):c.1407C>T (p.Val469=)
NM_152618.3(BBS12):c.141T>C (p.Ser47=)
NM_152618.3(BBS12):c.1428C>T (p.Ser476=)
NM_152618.3(BBS12):c.1446A>G (p.Val482=)
NM_152618.3(BBS12):c.1449T>C (p.Asp483=) rs2150737320
NM_152618.3(BBS12):c.1459A>C (p.Arg487=) rs772894742
NM_152618.3(BBS12):c.1461A>G (p.Arg487=)
NM_152618.3(BBS12):c.1467A>C (p.Ala489=)
NM_152618.3(BBS12):c.1476A>G (p.Leu492=)
NM_152618.3(BBS12):c.147A>G (p.Leu49=)
NM_152618.3(BBS12):c.1482A>C (p.Thr494=)
NM_152618.3(BBS12):c.1482A>G (p.Thr494=) rs1460811850
NM_152618.3(BBS12):c.1482A>T (p.Thr494=)
NM_152618.3(BBS12):c.1500T>C (p.Val500=)
NM_152618.3(BBS12):c.1503G>A (p.Thr501=)
NM_152618.3(BBS12):c.150C>T (p.Ile50=)
NM_152618.3(BBS12):c.1518C>T (p.Asn506=) rs2292494
NM_152618.3(BBS12):c.1524T>G (p.Val508=)
NM_152618.3(BBS12):c.1527T>C (p.Thr509=)
NM_152618.3(BBS12):c.1530A>T (p.Ala510=) rs1261261490
NM_152618.3(BBS12):c.1542C>A (p.Ile514=)
NM_152618.3(BBS12):c.1548A>G (p.Glu516=) rs2150737441
NM_152618.3(BBS12):c.1563A>G (p.Thr521=)
NM_152618.3(BBS12):c.1569C>G (p.Ala523=)
NM_152618.3(BBS12):c.1569C>T (p.Ala523=) rs1800926454
NM_152618.3(BBS12):c.1584T>C (p.Tyr528=) rs1200669244
NM_152618.3(BBS12):c.1587T>C (p.Ala529=) rs2150737498
NM_152618.3(BBS12):c.1588C>T (p.Leu530=) rs774541720
NM_152618.3(BBS12):c.1596G>A (p.Glu532=) rs1477880509
NM_152618.3(BBS12):c.1605C>A (p.Val535=)
NM_152618.3(BBS12):c.1605C>G (p.Val535=)
NM_152618.3(BBS12):c.1611T>C (p.Leu537=) rs536542331
NM_152618.3(BBS12):c.1614A>G (p.Gly538=)
NM_152618.3(BBS12):c.1617T>G (p.Gly539=) rs1332032760
NM_152618.3(BBS12):c.1620T>A (p.Gly540=) rs1335150440
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.1638T>C (p.Cys546=) rs2150737570
NM_152618.3(BBS12):c.163A>C (p.Arg55=) rs765761292
NM_152618.3(BBS12):c.1653T>C (p.His551=) rs1800929267
NM_152618.3(BBS12):c.165G>A (p.Arg55=) rs1160982211
NM_152618.3(BBS12):c.1668A>G (p.Gln556=) rs2150737604
NM_152618.3(BBS12):c.1671T>G (p.Ser557=)
NM_152618.3(BBS12):c.1695C>T (p.Cys565=)
NM_152618.3(BBS12):c.1698A>C (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>T (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.16A>C (p.Arg6=)
NM_152618.3(BBS12):c.1716T>C (p.Thr572=) rs1578491962
NM_152618.3(BBS12):c.1731T>C (p.Ala577=)
NM_152618.3(BBS12):c.1761G>C (p.Val587=) rs2150737711
NM_152618.3(BBS12):c.1764T>A (p.Leu588=)
NM_152618.3(BBS12):c.1764T>C (p.Leu588=) rs2150737718
NM_152618.3(BBS12):c.1773G>A (p.Leu591=)
NM_152618.3(BBS12):c.1779T>C (p.Asn593=)
NM_152618.3(BBS12):c.1812T>C (p.Tyr604=) rs1560708733
NM_152618.3(BBS12):c.1815C>T (p.Asn605=) rs779671886
NM_152618.3(BBS12):c.1830A>C (p.Ser610=) rs528535207
NM_152618.3(BBS12):c.1851A>G (p.Thr617=)
NM_152618.3(BBS12):c.1857T>C (p.Ile619=)
NM_152618.3(BBS12):c.1878C>A (p.Ala626=) rs1800935621
NM_152618.3(BBS12):c.1887T>C (p.Ser629=)
NM_152618.3(BBS12):c.1899A>T (p.Ser633=) rs892531107
NM_152618.3(BBS12):c.189C>T (p.Thr63=) rs2150735963
NM_152618.3(BBS12):c.1902T>C (p.Ser634=) rs2150737878
NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1935T>C (p.Ser645=)
NM_152618.3(BBS12):c.1950A>G (p.Ser650=)
NM_152618.3(BBS12):c.1965A>G (p.Lys655=) rs1223815928
NM_152618.3(BBS12):c.1966C>T (p.Leu656=)
NM_152618.3(BBS12):c.1980G>T (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.1989T>C (p.Tyr663=) rs2150737974
NM_152618.3(BBS12):c.1992C>T (p.Asp664=) rs1553941594
NM_152618.3(BBS12):c.2004A>C (p.Pro668=)
NM_152618.3(BBS12):c.2004A>G (p.Pro668=) rs2150738003
NM_152618.3(BBS12):c.2007G>A (p.Lys669=)
NM_152618.3(BBS12):c.2010T>A (p.Ile670=)
NM_152618.3(BBS12):c.2013G>A (p.Glu671=) rs777175466
NM_152618.3(BBS12):c.201A>T (p.Gly67=)
NM_152618.3(BBS12):c.2022C>T (p.Arg674=) rs2150738042
NM_152618.3(BBS12):c.2028A>G (p.Ala676=)
NM_152618.3(BBS12):c.2029T>C (p.Leu677=) rs1578492416
NM_152618.3(BBS12):c.2037A>G (p.Leu679=) rs1553941612
NM_152618.3(BBS12):c.2044T>C (p.Leu682=)
NM_152618.3(BBS12):c.2046A>G (p.Leu682=) rs2150738093
NM_152618.3(BBS12):c.2049A>G (p.Val683=) rs2150738097
NM_152618.3(BBS12):c.204A>G (p.Gln68=) rs2150735975
NM_152618.3(BBS12):c.2061C>T (p.Asp687=)
NM_152618.3(BBS12):c.2079A>G (p.Gly693=) rs1166099987
NM_152618.3(BBS12):c.2082T>C (p.His694=)
NM_152618.3(BBS12):c.2097A>C (p.Ile699=)
NM_152618.3(BBS12):c.2115G>A (p.Thr705=)
NM_152618.3(BBS12):c.21C>A (p.Val7=) rs754702110
NM_152618.3(BBS12):c.222T>G (p.Val74=) rs778792181
NM_152618.3(BBS12):c.228A>G (p.Ala76=)
NM_152618.3(BBS12):c.231A>G (p.Gln77=) rs1232888793
NM_152618.3(BBS12):c.234C>T (p.Asn78=) rs2150736009
NM_152618.3(BBS12):c.240A>G (p.Thr80=)
NM_152618.3(BBS12):c.249T>C (p.Thr83=) rs2150736023
NM_152618.3(BBS12):c.270T>C (p.Phe90=)
NM_152618.3(BBS12):c.291T>C (p.Ser97=) rs2150736048
NM_152618.3(BBS12):c.294A>G (p.Ala98=)
NM_152618.3(BBS12):c.318T>C (p.Gly106=) rs1578489832
NM_152618.3(BBS12):c.351A>G (p.Ser117=)
NM_152618.3(BBS12):c.366T>C (p.Phe122=) rs907426686
NM_152618.3(BBS12):c.381A>G (p.Val127=)
NM_152618.3(BBS12):c.396A>C (p.Val132=)
NM_152618.3(BBS12):c.396A>G (p.Val132=)
NM_152618.3(BBS12):c.450T>G (p.Leu150=) rs2150736218
NM_152618.3(BBS12):c.489C>G (p.Val163=)
NM_152618.3(BBS12):c.501T>C (p.Thr167=) rs771669469
NM_152618.3(BBS12):c.507G>A (p.Leu169=)
NM_152618.3(BBS12):c.513G>A (p.Glu171=)
NM_152618.3(BBS12):c.516A>G (p.Glu172=)
NM_152618.3(BBS12):c.517T>C (p.Leu173=) rs2150736262
NM_152618.3(BBS12):c.522T>C (p.His174=)
NM_152618.3(BBS12):c.525T>C (p.Gly175=) rs2150736282
NM_152618.3(BBS12):c.54A>G (p.Gln18=)
NM_152618.3(BBS12):c.550C>T (p.Leu184=) rs1800894066
NM_152618.3(BBS12):c.552G>A (p.Leu184=)
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.576A>G (p.Arg192=)
NM_152618.3(BBS12):c.579T>C (p.Pro193=) rs1354832386
NM_152618.3(BBS12):c.57T>G (p.Leu19=) rs2150735813
NM_152618.3(BBS12):c.588A>T (p.Ser196=) rs1214671198
NM_152618.3(BBS12):c.642A>T (p.Arg214=) rs1297157123
NM_152618.3(BBS12):c.648G>A (p.Leu216=)
NM_152618.3(BBS12):c.660G>C (p.Leu220=) rs768514500
NM_152618.3(BBS12):c.663T>G (p.Leu221=) rs2150736396
NM_152618.3(BBS12):c.672C>A (p.Thr224=)
NM_152618.3(BBS12):c.681A>G (p.Arg227=) rs2150736417
NM_152618.3(BBS12):c.708T>C (p.His236=)
NM_152618.3(BBS12):c.714T>C (p.Asn238=)
NM_152618.3(BBS12):c.715A>C (p.Arg239=) rs1800898589
NM_152618.3(BBS12):c.720A>G (p.Thr240=)
NM_152618.3(BBS12):c.729T>C (p.Thr243=)
NM_152618.3(BBS12):c.72A>G (p.Glu24=) rs2150735852
NM_152618.3(BBS12):c.753A>G (p.Gly251=) rs2150736488
NM_152618.3(BBS12):c.756T>C (p.Phe252=)
NM_152618.3(BBS12):c.75A>C (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.771A>T (p.Thr257=)
NM_152618.3(BBS12):c.774T>G (p.Ala258=)
NM_152618.3(BBS12):c.780C>T (p.His260=)
NM_152618.3(BBS12):c.798T>C (p.Asn266=)
NM_152618.3(BBS12):c.840C>T (p.His280=) rs2150736581
NM_152618.3(BBS12):c.852G>A (p.Lys284=)
NM_152618.3(BBS12):c.855A>G (p.Leu285=)
NM_152618.3(BBS12):c.874C>T (p.Leu292=)
NM_152618.3(BBS12):c.87C>T (p.Phe29=) rs2150735866
NM_152618.3(BBS12):c.891T>C (p.Ala297=) rs2150736617
NM_152618.3(BBS12):c.900A>G (p.Gln300=)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.906C>T (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.948C>T (p.Phe316=)
NM_152618.3(BBS12):c.951T>C (p.Thr317=)
NM_152618.3(BBS12):c.960A>G (p.Leu320=)
NM_152618.3(BBS12):c.96A>G (p.Pro32=)
NM_152618.3(BBS12):c.975A>G (p.Glu325=) rs2150736709
NM_152618.3(BBS12):c.978T>G (p.Thr326=)
NM_152618.3(BBS12):c.97C>T (p.Leu33=) rs1011665825
NM_152618.3(BBS12):c.981T>G (p.Ser327=) rs2150736715
NM_152618.3(BBS12):c.990T>C (p.Val330=)
NM_152618.3(BBS12):c.999A>T (p.Gly333=)
NM_152618.3(BBS12):c.99A>G (p.Leu33=) rs770875217
NM_152732.5(RSPH9):c.129G>T (p.Arg43=)
NM_152732.5(RSPH9):c.159C>T (p.Leu53=)
NM_152732.5(RSPH9):c.198C>T (p.Asp66=)
NM_152732.5(RSPH9):c.204C>T (p.Leu68=)
NM_152732.5(RSPH9):c.227+14C>T
NM_152732.5(RSPH9):c.227+15G>T
NM_152732.5(RSPH9):c.227+20G>A
NM_152732.5(RSPH9):c.27T>C (p.Ser9=)
NM_152732.5(RSPH9):c.282G>A (p.Ala94=)
NM_152732.5(RSPH9):c.393+11A>C
NM_152732.5(RSPH9):c.405G>A (p.Lys135=)
NM_152732.5(RSPH9):c.459C>A (p.Ile153=)
NM_152732.5(RSPH9):c.471C>T (p.Gly157=)
NM_152732.5(RSPH9):c.492T>C (p.Phe164=)
NM_152732.5(RSPH9):c.498C>T (p.Pro166=)
NM_152732.5(RSPH9):c.524-17C>T
NM_152732.5(RSPH9):c.657T>C (p.His219=) rs748721325
NM_152732.5(RSPH9):c.66G>A (p.Pro22=)
NM_152732.5(RSPH9):c.671-4T>G
NM_152732.5(RSPH9):c.693G>A (p.Glu231=)
NM_152732.5(RSPH9):c.717G>T (p.Leu239=)
NM_152732.5(RSPH9):c.720C>T (p.Arg240=)
NM_152732.5(RSPH9):c.72T>G (p.Arg24=)
NM_152732.5(RSPH9):c.735G>A (p.Pro245=)
NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr)
NM_152732.5(RSPH9):c.753T>C (p.His251=)
NM_152732.5(RSPH9):c.780C>T (p.Tyr260=)
NM_152732.5(RSPH9):c.786C>T (p.Tyr262=)
NM_152732.5(RSPH9):c.795T>C (p.Thr265=)
NM_152732.5(RSPH9):c.813C>T (p.Asp271=) rs763528022
NM_152732.5(RSPH9):c.9C>G (p.Ala3=)
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
NM_153704.6(TMEM67):c.1065+12T>A
NM_153704.6(TMEM67):c.1065+12T>G
NM_153704.6(TMEM67):c.1065+17T>G rs2130669162
NM_153704.6(TMEM67):c.1065+7A>G
NM_153704.6(TMEM67):c.1065+9G>A
NM_153704.6(TMEM67):c.1066-16T>C
NM_153704.6(TMEM67):c.1066-4G>A
NM_153704.6(TMEM67):c.1066-7G>A rs978443277
NM_153704.6(TMEM67):c.1066-7G>T
NM_153704.6(TMEM67):c.108C>G (p.Ala36=) rs2130522054
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
NM_153704.6(TMEM67):c.1131+12C>T
NM_153704.6(TMEM67):c.1131+13G>A
NM_153704.6(TMEM67):c.1131+16A>G
NM_153704.6(TMEM67):c.1131+9G>A rs1813883065
NM_153704.6(TMEM67):c.1132-14_1132-9del rs2130685786
NM_153704.6(TMEM67):c.1132-16T>C
NM_153704.6(TMEM67):c.1132-19T>G
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)
NM_153704.6(TMEM67):c.1239G>C (p.Val413=)
NM_153704.6(TMEM67):c.1239G>T (p.Val413=)
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
NM_153704.6(TMEM67):c.1288+10C>G
NM_153704.6(TMEM67):c.1288+14A>G rs1458179636
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1288+15del
NM_153704.6(TMEM67):c.1288+9T>A
NM_153704.6(TMEM67):c.1288+9T>C
NM_153704.6(TMEM67):c.1289-19T>C
NM_153704.6(TMEM67):c.1289-20T>C
NM_153704.6(TMEM67):c.1289-6T>C rs746707583
NM_153704.6(TMEM67):c.1289-8A>G
NM_153704.6(TMEM67):c.1289-8A>T
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
NM_153704.6(TMEM67):c.1412+10T>C
NM_153704.6(TMEM67):c.1412+12T>C
NM_153704.6(TMEM67):c.1412+13C>T
NM_153704.6(TMEM67):c.1412+16A>G
NM_153704.6(TMEM67):c.1413-6A>G
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
NM_153704.6(TMEM67):c.1518+15del
NM_153704.6(TMEM67):c.1518+20G>T
NM_153704.6(TMEM67):c.1519-14G>C
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
NM_153704.6(TMEM67):c.1575+15A>G
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
NM_153704.6(TMEM67):c.1575+9A>G
NM_153704.6(TMEM67):c.1576-10T>C
NM_153704.6(TMEM67):c.1576-19T>C
NM_153704.6(TMEM67):c.1576-20A>G rs1397119713
NM_153704.6(TMEM67):c.1576-7T>C rs767939125
NM_153704.6(TMEM67):c.1576-7T>G
NM_153704.6(TMEM67):c.1576-9G>C
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
NM_153704.6(TMEM67):c.15T>G (p.Gly5=)
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)
NM_153704.6(TMEM67):c.1674+12G>A
NM_153704.6(TMEM67):c.1674+17T>G
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-18C>T
NM_153704.6(TMEM67):c.1675-8A>T
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
NM_153704.6(TMEM67):c.1740G>A (p.Val580=)
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
NM_153704.6(TMEM67):c.1773+13C>T
NM_153704.6(TMEM67):c.1773+17A>G
NM_153704.6(TMEM67):c.1774-19C>G
NM_153704.6(TMEM67):c.1774-4A>G
NM_153704.6(TMEM67):c.1774-7A>T
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)
NM_153704.6(TMEM67):c.1860+10A>G
NM_153704.6(TMEM67):c.1860+14G>A
NM_153704.6(TMEM67):c.1860+16C>G
NM_153704.6(TMEM67):c.1860+17A>G
NM_153704.6(TMEM67):c.1860+19G>T rs373634556
NM_153704.6(TMEM67):c.1860+8T>C
NM_153704.6(TMEM67):c.1861-13A>G
NM_153704.6(TMEM67):c.1861-16T>C
NM_153704.6(TMEM67):c.1861-18A>G
NM_153704.6(TMEM67):c.18G>C (p.Gly6=) rs1812494244
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=) rs863225225
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693
NM_153704.6(TMEM67):c.1960+9A>T
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2100+11_2100+14del
NM_153704.6(TMEM67):c.2100+13T>C
NM_153704.6(TMEM67):c.2101-10T>G
NM_153704.6(TMEM67):c.2101-13C>A
NM_153704.6(TMEM67):c.2101-13C>G
NM_153704.6(TMEM67):c.2101-14C>T
NM_153704.6(TMEM67):c.2101-20A>C rs369488441
NM_153704.6(TMEM67):c.2101-20A>G
NM_153704.6(TMEM67):c.2101-5T>C
NM_153704.6(TMEM67):c.2101-8T>C
NM_153704.6(TMEM67):c.2103T>G (p.Val701=)
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)
NM_153704.6(TMEM67):c.223+10T>G
NM_153704.6(TMEM67):c.223+13G>C
NM_153704.6(TMEM67):c.223+15G>A
NM_153704.6(TMEM67):c.223+16G>C
NM_153704.6(TMEM67):c.223+7C>T
NM_153704.6(TMEM67):c.224-11T>A
NM_153704.6(TMEM67):c.224-13_224-3del
NM_153704.6(TMEM67):c.224-17T>C
NM_153704.6(TMEM67):c.224-20T>C
NM_153704.6(TMEM67):c.224-4_224-3insA
NM_153704.6(TMEM67):c.224-7T>C
NM_153704.6(TMEM67):c.224-9T>G
NM_153704.6(TMEM67):c.2241+12T>C
NM_153704.6(TMEM67):c.2241+19A>G
NM_153704.6(TMEM67):c.2242-14A>G
NM_153704.6(TMEM67):c.2242-8T>C
NM_153704.6(TMEM67):c.2242-9A>T
NM_153704.6(TMEM67):c.2244C>T (p.Val748=)
NM_153704.6(TMEM67):c.2247G>C (p.Val749=)
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
NM_153704.6(TMEM67):c.231A>T (p.Ser77=)
NM_153704.6(TMEM67):c.2322+11T>C
NM_153704.6(TMEM67):c.2322+11dup rs761531825
NM_153704.6(TMEM67):c.2322+17T>C
NM_153704.6(TMEM67):c.2322+18T>G
NM_153704.6(TMEM67):c.2322+20A>G
NM_153704.6(TMEM67):c.2322+7A>G
NM_153704.6(TMEM67):c.2323-10C>G
NM_153704.6(TMEM67):c.2323-10C>T
NM_153704.6(TMEM67):c.2323-4A>G
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
NM_153704.6(TMEM67):c.2439+19del
NM_153704.6(TMEM67):c.2439+8A>C
NM_153704.6(TMEM67):c.2439+9A>G rs2130764128
NM_153704.6(TMEM67):c.243A>C (p.Leu81=)
NM_153704.6(TMEM67):c.2440-13T>C
NM_153704.6(TMEM67):c.2440-7T>C
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
NM_153704.6(TMEM67):c.246A>G (p.Pro82=)
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)
NM_153704.6(TMEM67):c.2557-16C>G rs2130781103
NM_153704.6(TMEM67):c.2557-20A>G
NM_153704.6(TMEM67):c.2557-5A>G
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)
NM_153704.6(TMEM67):c.2625T>C (p.His875=)
NM_153704.6(TMEM67):c.2661+14del
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2661+18T>G
NM_153704.6(TMEM67):c.2662-16T>C
NM_153704.6(TMEM67):c.2662-6T>A
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.2764+19T>C
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
NM_153704.6(TMEM67):c.2790C>T (p.Val930=) rs767620101
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=) rs745807071
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)
NM_153704.6(TMEM67):c.2907+14A>T
NM_153704.6(TMEM67):c.2908-10A>C
NM_153704.6(TMEM67):c.2908-12T>C
NM_153704.6(TMEM67):c.2908-15G>T
NM_153704.6(TMEM67):c.2908-20G>T rs2130802403
NM_153704.6(TMEM67):c.2934A>G (p.Val978=)
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)
NM_153704.6(TMEM67):c.312+15T>G
NM_153704.6(TMEM67):c.313-12C>G
NM_153704.6(TMEM67):c.313-12C>T
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
NM_153704.6(TMEM67):c.330T>C (p.Asp110=)
NM_153704.6(TMEM67):c.333C>G (p.Gly111=)
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_153704.6(TMEM67):c.360C>T (p.Asp120=)
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
NM_153704.6(TMEM67):c.406+11G>T
NM_153704.6(TMEM67):c.406+12A>T rs575499078
NM_153704.6(TMEM67):c.406+17T>A
NM_153704.6(TMEM67):c.406+18T>C
NM_153704.6(TMEM67):c.406+7A>C
NM_153704.6(TMEM67):c.407-19T>C
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
NM_153704.6(TMEM67):c.408G>T (p.Val136=)
NM_153704.6(TMEM67):c.423T>C (p.Asn141=)
NM_153704.6(TMEM67):c.429A>T (p.Thr143=)
NM_153704.6(TMEM67):c.45C>T (p.Ser15=)
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
NM_153704.6(TMEM67):c.506+10G>A
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C
NM_153704.6(TMEM67):c.506+9T>G
NM_153704.6(TMEM67):c.507-10T>C
NM_153704.6(TMEM67):c.507-11A>G
NM_153704.6(TMEM67):c.507-14G>T
NM_153704.6(TMEM67):c.507-16T>G
NM_153704.6(TMEM67):c.507-9A>G
NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.576+11C>A
NM_153704.6(TMEM67):c.576+16T>C
NM_153704.6(TMEM67):c.576+17T>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C
NM_153704.6(TMEM67):c.577-20T>C
NM_153704.6(TMEM67):c.577-4del
NM_153704.6(TMEM67):c.577-8T>C
NM_153704.6(TMEM67):c.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
NM_153704.6(TMEM67):c.651+12T>G
NM_153704.6(TMEM67):c.651+15A>G
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+17T>G rs926157464
NM_153704.6(TMEM67):c.651+18T>C
NM_153704.6(TMEM67):c.651+19T>C
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T
NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
NM_153704.6(TMEM67):c.66G>A (p.Val22=)
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
NM_153704.6(TMEM67):c.714+11A>G
NM_153704.6(TMEM67):c.714+14T>C
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.715-12G>A
NM_153704.6(TMEM67):c.715-12G>T
NM_153704.6(TMEM67):c.715-13T>C
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
NM_153704.6(TMEM67):c.869+17T>C
NM_153704.6(TMEM67):c.869+17T>G
NM_153704.6(TMEM67):c.869+18G>C
NM_153704.6(TMEM67):c.870-16T>C
NM_153704.6(TMEM67):c.870-8G>A
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
NM_153704.6(TMEM67):c.972A>G (p.Glu324=) rs2130664789
NM_153704.6(TMEM67):c.978+12T>C rs2130664875
NM_153704.6(TMEM67):c.978+14A>G
NM_153704.6(TMEM67):c.978+17T>C
NM_153704.6(TMEM67):c.979-15G>A
NM_153704.6(TMEM67):c.979-18C>T
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361
NM_153717.3(EVC):c.*1314G>A rs567979829
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=)
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.126C>G (p.Leu42=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+216C>A rs1194963469
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1886+11C>T
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.195G>T (p.Leu65=)
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2688+11C>A
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2783-11G>A
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.537C>T (p.His179=)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=)
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.633G>T (p.Leu211=)
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=)
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.786T>C (p.Leu262=)
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-18T>C
NM_153717.3(EVC):c.802-19T>C
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=)
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.90C>T (p.Pro30=)
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.987G>A (p.Val329=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.3(MKKS):c.1008A>G (p.Leu336=) rs973676101
NM_170784.3(MKKS):c.1011C>T (p.Gly337=)
NM_170784.3(MKKS):c.1032T>C (p.Tyr344=)
NM_170784.3(MKKS):c.1044A>G (p.Lys348=)
NM_170784.3(MKKS):c.1047T>C (p.Asp349=)
NM_170784.3(MKKS):c.105A>T (p.Ser35=)
NM_170784.3(MKKS):c.1095T>C (p.Pro365=)
NM_170784.3(MKKS):c.1110C>T (p.Ile370=)
NM_170784.3(MKKS):c.111T>C (p.Tyr37=)
NM_170784.3(MKKS):c.1125C>T (p.Leu375=)
NM_170784.3(MKKS):c.1161+13_1161+19dup
NM_170784.3(MKKS):c.1161+16del
NM_170784.3(MKKS):c.1161+17G>C
NM_170784.3(MKKS):c.1162-10T>G
NM_170784.3(MKKS):c.1162-11T>C
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.1162-15T>G
NM_170784.3(MKKS):c.1162-5C>G
NM_170784.3(MKKS):c.1162-7T>C
NM_170784.3(MKKS):c.1164C>T (p.Leu388=) rs1302683154
NM_170784.3(MKKS):c.1167G>C (p.Thr389=)
NM_170784.3(MKKS):c.1167G>T (p.Thr389=)
NM_170784.3(MKKS):c.1170T>C (p.Cys390=)
NM_170784.3(MKKS):c.1176G>A (p.Thr392=) rs1441106610
NM_170784.3(MKKS):c.1191G>A (p.Leu397=)
NM_170784.3(MKKS):c.1203C>T (p.Leu401=)
NM_170784.3(MKKS):c.120A>C (p.Ser40=)
NM_170784.3(MKKS):c.1222T>C (p.Leu408=)
NM_170784.3(MKKS):c.123T>A (p.Gly41=)
NM_170784.3(MKKS):c.1257A>G (p.Ala419=)
NM_170784.3(MKKS):c.1260T>C (p.Tyr420=)
NM_170784.3(MKKS):c.1266A>G (p.Arg422=) rs1424059028
NM_170784.3(MKKS):c.1272+11T>C
NM_170784.3(MKKS):c.1272+14T>A
NM_170784.3(MKKS):c.1272+14T>C
NM_170784.3(MKKS):c.1272+16C>G
NM_170784.3(MKKS):c.1272+20T>C
NM_170784.3(MKKS):c.1272+7A>G rs1209169319
NM_170784.3(MKKS):c.1272+8A>G
NM_170784.3(MKKS):c.1272+9G>A
NM_170784.3(MKKS):c.1273-8C>T
NM_170784.3(MKKS):c.1273-9A>G rs1239375783
NM_170784.3(MKKS):c.1278C>T (p.His426=)
NM_170784.3(MKKS):c.1281C>T (p.Asn427=)
NM_170784.3(MKKS):c.1299C>G (p.Leu433=)
NM_170784.3(MKKS):c.1299C>T (p.Leu433=)
NM_170784.3(MKKS):c.1311A>G (p.Glu437=)
NM_170784.3(MKKS):c.1332A>G (p.Gln444=)
NM_170784.3(MKKS):c.135G>A (p.Gln45=) rs976383350
NM_170784.3(MKKS):c.1368T>C (p.Ser456=)
NM_170784.3(MKKS):c.1377C>T (p.Gly459=)
NM_170784.3(MKKS):c.1380T>C (p.Ser460=)
NM_170784.3(MKKS):c.1404T>C (p.Ile468=)
NM_170784.3(MKKS):c.1410T>C (p.Thr470=)
NM_170784.3(MKKS):c.1410T>G (p.Thr470=)
NM_170784.3(MKKS):c.1437A>G (p.Ser479=)
NM_170784.3(MKKS):c.1464T>C (p.Ala488=) rs2122219775
NM_170784.3(MKKS):c.147C>T (p.Gly49=)
NM_170784.3(MKKS):c.1545C>T (p.Ser515=)
NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)
NM_170784.3(MKKS):c.1569A>G (p.Gln523=)
NM_170784.3(MKKS):c.1572C>T (p.Ser524=) rs2122219499
NM_170784.3(MKKS):c.159C>T (p.Tyr53=)
NM_170784.3(MKKS):c.1602C>T (p.Ala534=) rs1408681070
NM_170784.3(MKKS):c.1605C>T (p.Ser535=)
NM_170784.3(MKKS):c.1608C>T (p.Asn536=)
NM_170784.3(MKKS):c.1611G>A (p.Leu537=)
NM_170784.3(MKKS):c.162G>T (p.Val54=)
NM_170784.3(MKKS):c.1689A>G (p.Ser563=)
NM_170784.3(MKKS):c.1689A>T (p.Ser563=) rs147688404
NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)
NM_170784.3(MKKS):c.1704T>C (p.Asp568=)
NM_170784.3(MKKS):c.174A>C (p.Ser58=)
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.189G>A (p.Leu63=)
NM_170784.3(MKKS):c.192C>T (p.Leu64=)
NM_170784.3(MKKS):c.198C>T (p.His66=)
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.213T>C (p.His71=)
NM_170784.3(MKKS):c.255G>T (p.Val85=)
NM_170784.3(MKKS):c.27A>C (p.Pro9=)
NM_170784.3(MKKS):c.288T>C (p.Ala96=)
NM_170784.3(MKKS):c.303C>T (p.Asn101=)
NM_170784.3(MKKS):c.30A>G (p.Ser10=)
NM_170784.3(MKKS):c.318T>G (p.Val106=)
NM_170784.3(MKKS):c.327A>G (p.Leu109=)
NM_170784.3(MKKS):c.336A>G (p.Thr112=)
NM_170784.3(MKKS):c.33G>A (p.Leu11=)
NM_170784.3(MKKS):c.357A>G (p.Leu119=)
NM_170784.3(MKKS):c.390T>C (p.Tyr130=)
NM_170784.3(MKKS):c.393C>G (p.Leu131=)
NM_170784.3(MKKS):c.393C>T (p.Leu131=)
NM_170784.3(MKKS):c.405C>T (p.Thr135=)
NM_170784.3(MKKS):c.411T>A (p.Gly137=)
NM_170784.3(MKKS):c.411T>C (p.Gly137=)
NM_170784.3(MKKS):c.415C>A (p.Arg139=)
NM_170784.3(MKKS):c.435T>C (p.Ser145=)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.498C>T (p.Leu166=) rs767797613
NM_170784.3(MKKS):c.504A>G (p.Arg168=)
NM_170784.3(MKKS):c.513A>G (p.Thr171=)
NM_170784.3(MKKS):c.522C>G (p.Val174=)
NM_170784.3(MKKS):c.529T>C (p.Leu177=)
NM_170784.3(MKKS):c.540A>G (p.Arg180=)
NM_170784.3(MKKS):c.547T>C (p.Leu183=)
NM_170784.3(MKKS):c.561A>C (p.Pro187=)
NM_170784.3(MKKS):c.570T>C (p.Ala190=) rs1191520552
NM_170784.3(MKKS):c.582C>A (p.Ile194=) rs2064903385
NM_170784.3(MKKS):c.591A>G (p.Gly197=)
NM_170784.3(MKKS):c.594G>A (p.Lys198=)
NM_170784.3(MKKS):c.621A>G (p.Gln207=)
NM_170784.3(MKKS):c.648T>A (p.Pro216=)
NM_170784.3(MKKS):c.657C>A (p.Leu219=)
NM_170784.3(MKKS):c.657C>T (p.Leu219=)
NM_170784.3(MKKS):c.663A>G (p.Glu221=)
NM_170784.3(MKKS):c.66C>A (p.Val22=)
NM_170784.3(MKKS):c.66C>G (p.Val22=)
NM_170784.3(MKKS):c.678A>G (p.Gln226=)
NM_170784.3(MKKS):c.687G>A (p.Arg229=)
NM_170784.3(MKKS):c.690A>G (p.Leu230=)
NM_170784.3(MKKS):c.6T>C (p.Ser2=)
NM_170784.3(MKKS):c.708A>G (p.Ser236=)
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.729C>G (p.Leu243=)
NM_170784.3(MKKS):c.729C>T (p.Leu243=)
NM_170784.3(MKKS):c.732T>C (p.Phe244=)
NM_170784.3(MKKS):c.738A>G (p.Thr246=)
NM_170784.3(MKKS):c.765T>C (p.Thr255=)
NM_170784.3(MKKS):c.783G>A (p.Val261=)
NM_170784.3(MKKS):c.783G>T (p.Val261=)
NM_170784.3(MKKS):c.801T>G (p.Ser267=)
NM_170784.3(MKKS):c.81T>C (p.Ser27=)
NM_170784.3(MKKS):c.834C>T (p.Asn278=)
NM_170784.3(MKKS):c.843G>A (p.Arg281=)
NM_170784.3(MKKS):c.858C>T (p.Asp286=)
NM_170784.3(MKKS):c.861C>T (p.His287=)
NM_170784.3(MKKS):c.864A>C (p.Val288=)
NM_170784.3(MKKS):c.897A>G (p.Pro299=)
NM_170784.3(MKKS):c.969C>G (p.Pro323=) rs762646572
NM_170784.3(MKKS):c.972G>T (p.Leu324=)
NM_170784.3(MKKS):c.985+13C>G
NM_170784.3(MKKS):c.985+13_985+14del rs2122233659
NM_170784.3(MKKS):c.985+20T>C
NM_170784.3(MKKS):c.985+7A>G
NM_170784.3(MKKS):c.985+9C>T
NM_170784.3(MKKS):c.986-10del
NM_170784.3(MKKS):c.986-13C>T
NM_170784.3(MKKS):c.986-19T>C
NM_170784.3(MKKS):c.986-9A>G
NM_170784.3(MKKS):c.987A>G (p.Gly329=)
NM_170784.3(MKKS):c.993G>A (p.Gln331=)
NM_170784.3(MKKS):c.9T>G (p.Arg3=)
NM_176824.3(BBS7):c.102+16T>A
NM_176824.3(BBS7):c.102+8A>T
NM_176824.3(BBS7):c.103-10T>C
NM_176824.3(BBS7):c.103-4A>C rs374281147
NM_176824.3(BBS7):c.103-8T>C
NM_176824.3(BBS7):c.1037+19T>C
NM_176824.3(BBS7):c.1037+19T>G
NM_176824.3(BBS7):c.1037+20T>G
NM_176824.3(BBS7):c.1037+9_1037+14del
NM_176824.3(BBS7):c.1038-5T>G
NM_176824.3(BBS7):c.1038-7T>C
NM_176824.3(BBS7):c.1047G>A (p.Leu349=)
NM_176824.3(BBS7):c.1083G>A (p.Glu361=)
NM_176824.3(BBS7):c.1104A>G (p.Gln368=)
NM_176824.3(BBS7):c.1116A>G (p.Ala372=) rs2149068875
NM_176824.3(BBS7):c.1119A>G (p.Lys373=)
NM_176824.3(BBS7):c.114A>C (p.Gly38=)
NM_176824.3(BBS7):c.1158A>C (p.Thr386=)
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1221C>A (p.Val407=)
NM_176824.3(BBS7):c.1221C>G (p.Val407=) rs760247807
NM_176824.3(BBS7):c.1231-11A>G
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1231-4A>C
NM_176824.3(BBS7):c.1231-4A>G
NM_176824.3(BBS7):c.1231-4A>T
NM_176824.3(BBS7):c.1257T>C (p.Asp419=)
NM_176824.3(BBS7):c.1263T>C (p.Asp421=)
NM_176824.3(BBS7):c.1284C>T (p.Ser428=)
NM_176824.3(BBS7):c.1287T>C (p.Phe429=)
NM_176824.3(BBS7):c.1302T>C (p.Ser434=)
NM_176824.3(BBS7):c.1305+15A>G
NM_176824.3(BBS7):c.1305+17_1305+21del rs2149066719
NM_176824.3(BBS7):c.1305+19G>T
NM_176824.3(BBS7):c.1305+7A>G
NM_176824.3(BBS7):c.1306-13G>A
NM_176824.3(BBS7):c.1306-18A>G
NM_176824.3(BBS7):c.1306-4C>A
NM_176824.3(BBS7):c.1356A>G (p.Thr452=)
NM_176824.3(BBS7):c.1360C>T (p.Leu454=)
NM_176824.3(BBS7):c.1371+11T>G
NM_176824.3(BBS7):c.1371+13G>T
NM_176824.3(BBS7):c.1371+8T>A rs2149061801
NM_176824.3(BBS7):c.1372-10G>A
NM_176824.3(BBS7):c.1372-11T>C
NM_176824.3(BBS7):c.1372-12G>A
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1372-20C>T
NM_176824.3(BBS7):c.1389C>A (p.Gly463=)
NM_176824.3(BBS7):c.1402C>T (p.Leu468=)
NM_176824.3(BBS7):c.1404A>G (p.Leu468=)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=) rs1725394181
NM_176824.3(BBS7):c.1425A>G (p.Arg475=)
NM_176824.3(BBS7):c.1473T>A (p.Leu491=) rs757900989
NM_176824.3(BBS7):c.1485A>G (p.Gln495=)
NM_176824.3(BBS7):c.1488A>G (p.Arg496=)
NM_176824.3(BBS7):c.1491T>G (p.Thr497=)
NM_176824.3(BBS7):c.1511+16G>A
NM_176824.3(BBS7):c.1511+18G>A
NM_176824.3(BBS7):c.1512-14C>A rs759936975
NM_176824.3(BBS7):c.1512-18T>C
NM_176824.3(BBS7):c.1512-20C>T
NM_176824.3(BBS7):c.1515C>T (p.Pro505=)
NM_176824.3(BBS7):c.153A>G (p.Lys51=)
NM_176824.3(BBS7):c.1545C>T (p.Phe515=)
NM_176824.3(BBS7):c.1554T>G (p.Ala518=)
NM_176824.3(BBS7):c.1563C>T (p.His521=) rs2149054316
NM_176824.3(BBS7):c.1590A>G (p.Glu530=)
NM_176824.3(BBS7):c.1605T>G (p.Pro535=)
NM_176824.3(BBS7):c.1611A>C (p.Ala537=)
NM_176824.3(BBS7):c.1611A>G (p.Ala537=)
NM_176824.3(BBS7):c.165+20G>A
NM_176824.3(BBS7):c.165+20G>T
NM_176824.3(BBS7):c.166-15A>C
NM_176824.3(BBS7):c.166-18C>G
NM_176824.3(BBS7):c.166-20_166-19del
NM_176824.3(BBS7):c.1671C>A (p.Thr557=)
NM_176824.3(BBS7):c.1676+13T>C
NM_176824.3(BBS7):c.1677-14T>C
NM_176824.3(BBS7):c.1698A>G (p.Lys566=)
NM_176824.3(BBS7):c.1728A>G (p.Leu576=)
NM_176824.3(BBS7):c.174C>T (p.Phe58=)
NM_176824.3(BBS7):c.1786+10_1786+13del
NM_176824.3(BBS7):c.1786+14A>G
NM_176824.3(BBS7):c.1786+20_1786+22del
NM_176824.3(BBS7):c.1786+8A>T
NM_176824.3(BBS7):c.1787-11A>C rs779593410
NM_176824.3(BBS7):c.1787-14T>C
NM_176824.3(BBS7):c.1787-16G>T
NM_176824.3(BBS7):c.1787-19del
NM_176824.3(BBS7):c.1803A>T (p.Ser601=)
NM_176824.3(BBS7):c.1812C>T (p.His604=)
NM_176824.3(BBS7):c.1818A>G (p.Leu606=)
NM_176824.3(BBS7):c.1822C>T (p.Leu608=)
NM_176824.3(BBS7):c.1830C>T (p.His610=)
NM_176824.3(BBS7):c.1849T>C (p.Leu617=)
NM_176824.3(BBS7):c.186C>G (p.Pro62=)
NM_176824.3(BBS7):c.1881T>C (p.Asp627=)
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1890+15_1890+16delinsTA rs2149048318
NM_176824.3(BBS7):c.1890+16G>C
NM_176824.3(BBS7):c.1890+17T>C
NM_176824.3(BBS7):c.1890+18C>T
NM_176824.3(BBS7):c.1890+19G>T
NM_176824.3(BBS7):c.1890+8C>T
NM_176824.3(BBS7):c.1890+9A>G
NM_176824.3(BBS7):c.1891-16T>G
NM_176824.3(BBS7):c.1908G>A (p.Glu636=)
NM_176824.3(BBS7):c.1948C>T (p.Leu650=)
NM_176824.3(BBS7):c.1953A>G (p.Glu651=)
NM_176824.3(BBS7):c.1965C>T (p.His655=)
NM_176824.3(BBS7):c.1966C>T (p.Leu656=)
NM_176824.3(BBS7):c.1968A>G (p.Leu656=)
NM_176824.3(BBS7):c.1992T>C (p.Pro664=) rs1724995426
NM_176824.3(BBS7):c.1995A>C (p.Ala665=)
NM_176824.3(BBS7):c.19C>A (p.Arg7=)
NM_176824.3(BBS7):c.2010C>T (p.Leu670=)
NM_176824.3(BBS7):c.2014+9A>G
NM_176824.3(BBS7):c.2015-17A>T rs1226821091
NM_176824.3(BBS7):c.2015-6T>C
NM_176824.3(BBS7):c.2016C>T (p.Gly672=)
NM_176824.3(BBS7):c.2034C>T (p.Phe678=) rs2149045756
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.2067A>G (p.Val689=)
NM_176824.3(BBS7):c.2073T>C (p.Thr691=) rs2149045672
NM_176824.3(BBS7):c.2133C>T (p.Phe711=)
NM_176824.3(BBS7):c.213G>C (p.Leu71=)
NM_176824.3(BBS7):c.2142A>G (p.Ala714=) rs2149045575
NM_176824.3(BBS7):c.219G>A (p.Gly73=)
NM_176824.3(BBS7):c.237G>A (p.Gln79=)
NM_176824.3(BBS7):c.249T>C (p.Phe83=)
NM_176824.3(BBS7):c.258A>G (p.Ala86=)
NM_176824.3(BBS7):c.282A>G (p.Thr94=)
NM_176824.3(BBS7):c.282A>T (p.Thr94=)
NM_176824.3(BBS7):c.291A>G (p.Gly97=)
NM_176824.3(BBS7):c.294A>G (p.Lys98=) rs2149087496
NM_176824.3(BBS7):c.300C>T (p.Phe100=) rs750255237
NM_176824.3(BBS7):c.303C>T (p.Leu101=)
NM_176824.3(BBS7):c.306C>A (p.Ser102=)
NM_176824.3(BBS7):c.339T>G (p.Ala113=)
NM_176824.3(BBS7):c.33G>A (p.Leu11=)
NM_176824.3(BBS7):c.341+10T>C
NM_176824.3(BBS7):c.341+12G>A
NM_176824.3(BBS7):c.341+17C>G
NM_176824.3(BBS7):c.341+20T>A
NM_176824.3(BBS7):c.341+20_341+21del rs755362565
NM_176824.3(BBS7):c.341+8T>C rs2149087412
NM_176824.3(BBS7):c.342-11A>G
NM_176824.3(BBS7):c.342-16A>T
NM_176824.3(BBS7):c.342-19A>G
NM_176824.3(BBS7):c.36+14A>T
NM_176824.3(BBS7):c.36+17G>A
NM_176824.3(BBS7):c.36+20C>T
NM_176824.3(BBS7):c.36+9A>G
NM_176824.3(BBS7):c.37-14G>A rs1727381941
NM_176824.3(BBS7):c.37-19A>C
NM_176824.3(BBS7):c.37-20C>T
NM_176824.3(BBS7):c.37-5T>C
NM_176824.3(BBS7):c.381C>T (p.Tyr127=)
NM_176824.3(BBS7):c.405C>T (p.Cys135=)
NM_176824.3(BBS7):c.417T>C (p.His139=)
NM_176824.3(BBS7):c.483C>A (p.Ile161=)
NM_176824.3(BBS7):c.48A>C (p.Thr16=)
NM_176824.3(BBS7):c.528+11T>A
NM_176824.3(BBS7):c.528+11T>C
NM_176824.3(BBS7):c.529-15dup
NM_176824.3(BBS7):c.529-7C>T
NM_176824.3(BBS7):c.529-7_529-5del rs758828904
NM_176824.3(BBS7):c.529-9C>G
NM_176824.3(BBS7):c.546T>C (p.Tyr182=)
NM_176824.3(BBS7):c.54G>A (p.Gln18=) rs754868012
NM_176824.3(BBS7):c.552T>C (p.Val184=)
NM_176824.3(BBS7):c.564A>G (p.Gly188=)
NM_176824.3(BBS7):c.567C>T (p.Pro189=) rs567185907
NM_176824.3(BBS7):c.579A>G (p.Leu193=)
NM_176824.3(BBS7):c.601+15A>G
NM_176824.3(BBS7):c.602-18G>A
NM_176824.3(BBS7):c.602-8A>G
NM_176824.3(BBS7):c.618C>T (p.Asp206=)
NM_176824.3(BBS7):c.627T>C (p.Phe209=) rs2149079198
NM_176824.3(BBS7):c.633A>G (p.Thr211=)
NM_176824.3(BBS7):c.666T>C (p.Thr222=)
NM_176824.3(BBS7):c.718+12A>C
NM_176824.3(BBS7):c.718+16A>T rs368687702
NM_176824.3(BBS7):c.718+20C>G
NM_176824.3(BBS7):c.719-20T>A
NM_176824.3(BBS7):c.719-20T>C
NM_176824.3(BBS7):c.726G>A (p.Leu242=) rs2149077327
NM_176824.3(BBS7):c.747T>C (p.Ile249=)
NM_176824.3(BBS7):c.756T>C (p.Asp252=)
NM_176824.3(BBS7):c.78C>G (p.Ala26=)
NM_176824.3(BBS7):c.804G>A (p.Val268=)
NM_176824.3(BBS7):c.81A>G (p.Ser27=)
NM_176824.3(BBS7):c.835C>T (p.Leu279=)
NM_176824.3(BBS7):c.849+12A>G
NM_176824.3(BBS7):c.849+12A>T
NM_176824.3(BBS7):c.849+17A>G
NM_176824.3(BBS7):c.849+9A>G
NM_176824.3(BBS7):c.849+9A>T
NM_176824.3(BBS7):c.850-20T>C
NM_176824.3(BBS7):c.850-8T>G
NM_176824.3(BBS7):c.867C>A (p.Val289=)
NM_176824.3(BBS7):c.867C>G (p.Val289=)
NM_176824.3(BBS7):c.87C>T (p.His29=)
NM_176824.3(BBS7):c.894A>G (p.Gly298=)
NM_176824.3(BBS7):c.927A>C (p.Thr309=) rs771825770
NM_176824.3(BBS7):c.934+10A>C
NM_176824.3(BBS7):c.934+10A>G
NM_176824.3(BBS7):c.934+11T>C rs1461872585
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_176824.3(BBS7):c.935-4A>G
NM_176824.3(BBS7):c.935-8C>G
NM_176824.3(BBS7):c.945A>C (p.Thr315=)
NM_176824.3(BBS7):c.96A>T (p.Thr32=)
NM_176824.3(BBS7):c.987A>G (p.Gly329=)
NM_178452.6(DNAAF1):c.1030+10C>T rs775992194
NM_178452.6(DNAAF1):c.1030+7G>A
NM_178452.6(DNAAF1):c.1030+8C>T rs2151253101
NM_178452.6(DNAAF1):c.1031-11T>G rs200286840
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=)
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro)
NM_178452.6(DNAAF1):c.1098C>G (p.Pro366=)
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)
NM_178452.6(DNAAF1):c.1131A>G (p.Leu377=)
NM_178452.6(DNAAF1):c.1161C>T (p.Asp387=)
NM_178452.6(DNAAF1):c.1167C>G (p.Leu389=)
NM_178452.6(DNAAF1):c.1182A>G (p.Pro394=)
NM_178452.6(DNAAF1):c.1197G>A (p.Pro399=) rs775507447
NM_178452.6(DNAAF1):c.1197G>T (p.Pro399=) rs775507447
NM_178452.6(DNAAF1):c.124+12C>T
NM_178452.6(DNAAF1):c.124+16C>T
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=)
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=) rs1555525241
NM_178452.6(DNAAF1):c.1356T>A (p.Pro452=)
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=) rs761136963
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=) rs1205285192
NM_178452.6(DNAAF1):c.1509C>T (p.Pro503=) rs2151267410
NM_178452.6(DNAAF1):c.1512G>A (p.Leu504=) rs2088264269
NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=)
NM_178452.6(DNAAF1):c.1529-11T>C
NM_178452.6(DNAAF1):c.1533G>A (p.Pro511=)
NM_178452.6(DNAAF1):c.1539C>T (p.Pro513=)
NM_178452.6(DNAAF1):c.153G>C (p.Val51=)
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=)
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=)
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=)
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=)
NM_178452.6(DNAAF1):c.1644+17dup
NM_178452.6(DNAAF1):c.1645-19G>C
NM_178452.6(DNAAF1):c.1645-20C>T
NM_178452.6(DNAAF1):c.1645-9C>T
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=) rs576928019
NM_178452.6(DNAAF1):c.1698+8T>A rs1186759315
NM_178452.6(DNAAF1):c.1698+9C>T
NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=)
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)
NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=)
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=) rs747916153
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
NM_178452.6(DNAAF1):c.1806T>C (p.Thr602=)
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
NM_178452.6(DNAAF1):c.1897T>C (p.Leu633=)
NM_178452.6(DNAAF1):c.1992C>T (p.Thr664=)
NM_178452.6(DNAAF1):c.2019T>C (p.Thr673=)
NM_178452.6(DNAAF1):c.2065+20A>G rs1392623784
NM_178452.6(DNAAF1):c.2065+9G>T
NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=)
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=)
NM_178452.6(DNAAF1):c.261-20A>G
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=) rs1466796208
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=)
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)
NM_178452.6(DNAAF1):c.33T>C (p.Gly11=)
NM_178452.6(DNAAF1):c.352+15G>C
NM_178452.6(DNAAF1):c.352+9C>A
NM_178452.6(DNAAF1):c.353-19C>T
NM_178452.6(DNAAF1):c.353-5G>A
NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=) rs2087328101
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=)
NM_178452.6(DNAAF1):c.574+11C>T
NM_178452.6(DNAAF1):c.575-18G>T
NM_178452.6(DNAAF1):c.575-20C>T
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=) rs1597422367
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=)
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.684G>C (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=)
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=) rs928649220
NM_178452.6(DNAAF1):c.741+4AAAAAC[4]
NM_178452.6(DNAAF1):c.742-12G>A
NM_178452.6(DNAAF1):c.742-7C>G rs2087610689
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=)
NM_178452.6(DNAAF1):c.863+8G>A
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=)
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)
NM_181426.2(CCDC39):c.1020T>C (p.His340=)
NM_181426.2(CCDC39):c.1034+12A>G
NM_181426.2(CCDC39):c.1034+13C>G
NM_181426.2(CCDC39):c.1035-13A>G
NM_181426.2(CCDC39):c.1035-15A>G
NM_181426.2(CCDC39):c.1035-18G>A
NM_181426.2(CCDC39):c.1035-18G>T
NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)
NM_181426.2(CCDC39):c.1077A>G (p.Lys359=)
NM_181426.2(CCDC39):c.1086G>A (p.Glu362=)
NM_181426.2(CCDC39):c.1129T>C (p.Leu377=)
NM_181426.2(CCDC39):c.1143A>G (p.Leu381=)
NM_181426.2(CCDC39):c.1167+10A>G
NM_181426.2(CCDC39):c.1167+1258_1167+1270del
NM_181426.2(CCDC39):c.1167+16A>G
NM_181426.2(CCDC39):c.1168-10T>C
NM_181426.2(CCDC39):c.1168-17A>G
NM_181426.2(CCDC39):c.1168-18T>C
NM_181426.2(CCDC39):c.1168-6_1168-4del
NM_181426.2(CCDC39):c.1179T>G (p.Val393=)
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=)
NM_181426.2(CCDC39):c.1233T>A (p.Thr411=)
NM_181426.2(CCDC39):c.1236G>A (p.Glu412=)
NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)
NM_181426.2(CCDC39):c.132G>A (p.Glu44=)
NM_181426.2(CCDC39):c.135A>G (p.Leu45=)
NM_181426.2(CCDC39):c.1362+16A>G
NM_181426.2(CCDC39):c.1362+19A>C
NM_181426.2(CCDC39):c.1362+20A>T rs1343116989
NM_181426.2(CCDC39):c.1363-12A>T
NM_181426.2(CCDC39):c.1363-13T>A
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-17_1363-16insC
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.1363-7_1363-6del rs764514126
NM_181426.2(CCDC39):c.1363-8T>G
NM_181426.2(CCDC39):c.1363-9C>A
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)
NM_181426.2(CCDC39):c.141G>A (p.Glu47=)
NM_181426.2(CCDC39):c.1437G>A (p.Ala479=)
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=) rs1429796397
NM_181426.2(CCDC39):c.144T>C (p.Tyr48=)
NM_181426.2(CCDC39):c.1470T>G (p.Ser490=)
NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)
NM_181426.2(CCDC39):c.1491A>C (p.Thr497=)
NM_181426.2(CCDC39):c.1491A>G (p.Thr497=)
NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)
NM_181426.2(CCDC39):c.1527+11C>T
NM_181426.2(CCDC39):c.1527+18C>T
NM_181426.2(CCDC39):c.1528-10T>C
NM_181426.2(CCDC39):c.1528-11_1528-10del rs765966793
NM_181426.2(CCDC39):c.1528-12T>A
NM_181426.2(CCDC39):c.1528-19C>A
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
NM_181426.2(CCDC39):c.1575A>G (p.Glu525=)
NM_181426.2(CCDC39):c.1593C>A (p.Thr531=)
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=)
NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)
NM_181426.2(CCDC39):c.1665+20A>C
NM_181426.2(CCDC39):c.1665+7T>C
NM_181426.2(CCDC39):c.1665+9A>G
NM_181426.2(CCDC39):c.1666-10A>G
NM_181426.2(CCDC39):c.1666-11T>A
NM_181426.2(CCDC39):c.1666-8G>A
NM_181426.2(CCDC39):c.1666-8G>T
NM_181426.2(CCDC39):c.1666-9C>T
NM_181426.2(CCDC39):c.1689T>A (p.Leu563=)
NM_181426.2(CCDC39):c.1698T>C (p.Leu566=)
NM_181426.2(CCDC39):c.1701A>G (p.Glu567=)
NM_181426.2(CCDC39):c.1704T>G (p.Val568=)
NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)
NM_181426.2(CCDC39):c.1731T>C (p.Ser577=)
NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)
NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)
NM_181426.2(CCDC39):c.1773A>G (p.Gln591=)
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=) rs201780665
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)
NM_181426.2(CCDC39):c.1869C>T (p.Asn623=)
NM_181426.2(CCDC39):c.1875-10T>A
NM_181426.2(CCDC39):c.1875-14C>T
NM_181426.2(CCDC39):c.1875-14_1875-13del
NM_181426.2(CCDC39):c.1875-17T>A
NM_181426.2(CCDC39):c.1875-20del
NM_181426.2(CCDC39):c.1875-9T>C
NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)
NM_181426.2(CCDC39):c.1890G>A (p.Glu630=)
NM_181426.2(CCDC39):c.18G>C (p.Leu6=)
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)
NM_181426.2(CCDC39):c.1920T>C (p.Asn640=)
NM_181426.2(CCDC39):c.1935G>A (p.Leu645=)
NM_181426.2(CCDC39):c.1953T>C (p.Pro651=)
NM_181426.2(CCDC39):c.1965A>G (p.Glu655=)
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=)
NM_181426.2(CCDC39):c.1998+10A>G
NM_181426.2(CCDC39):c.1998+13_1998+16del
NM_181426.2(CCDC39):c.1998+20A>G
NM_181426.2(CCDC39):c.1999-12T>C
NM_181426.2(CCDC39):c.1999-8C>T
NM_181426.2(CCDC39):c.2019A>G (p.Glu673=)
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=)
NM_181426.2(CCDC39):c.207A>G (p.Thr69=)
NM_181426.2(CCDC39):c.2082T>G (p.Ala694=)
NM_181426.2(CCDC39):c.210+12G>T
NM_181426.2(CCDC39):c.210+17T>C
NM_181426.2(CCDC39):c.210+20T>G
NM_181426.2(CCDC39):c.210+9A>C
NM_181426.2(CCDC39):c.2103G>T (p.Val701=)
NM_181426.2(CCDC39):c.211-13del
NM_181426.2(CCDC39):c.211-14G>T
NM_181426.2(CCDC39):c.211-16G>A
NM_181426.2(CCDC39):c.211-6C>A
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
NM_181426.2(CCDC39):c.2127T>C (p.Tyr709=)
NM_181426.2(CCDC39):c.2136T>C (p.Ser712=)
NM_181426.2(CCDC39):c.2158+13T>C
NM_181426.2(CCDC39):c.2158+19T>G
NM_181426.2(CCDC39):c.2158+9G>A rs2108406532
NM_181426.2(CCDC39):c.2159-13T>C
NM_181426.2(CCDC39):c.2159-14G>A
NM_181426.2(CCDC39):c.2159-14G>T
NM_181426.2(CCDC39):c.2159-15T>G
NM_181426.2(CCDC39):c.2159-4T>G
NM_181426.2(CCDC39):c.2159-9A>G
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=)
NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=)
NM_181426.2(CCDC39):c.2265+11C>T
NM_181426.2(CCDC39):c.2265+15C>A
NM_181426.2(CCDC39):c.2265+16A>G
NM_181426.2(CCDC39):c.2266-13A>G
NM_181426.2(CCDC39):c.2266-16A>G
NM_181426.2(CCDC39):c.2286T>C (p.Asp762=)
NM_181426.2(CCDC39):c.2295A>G (p.Glu765=)
NM_181426.2(CCDC39):c.231G>A (p.Glu77=)
NM_181426.2(CCDC39):c.2323T>C (p.Leu775=)
NM_181426.2(CCDC39):c.2325A>G (p.Leu775=)
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)
NM_181426.2(CCDC39):c.234T>G (p.Arg78=)
NM_181426.2(CCDC39):c.2353C>T (p.Leu785=)
NM_181426.2(CCDC39):c.2376G>A (p.Gln792=)
NM_181426.2(CCDC39):c.2400C>G (p.Thr800=) rs2108404469
NM_181426.2(CCDC39):c.2403A>G (p.Lys801=)
NM_181426.2(CCDC39):c.2406+11C>A
NM_181426.2(CCDC39):c.2406+7A>G
NM_181426.2(CCDC39):c.2406+9A>C
NM_181426.2(CCDC39):c.2406+9_2406+10del
NM_181426.2(CCDC39):c.2407-20T>A
NM_181426.2(CCDC39):c.2407-20T>C
NM_181426.2(CCDC39):c.2407-6C>T
NM_181426.2(CCDC39):c.2407-7C>T
NM_181426.2(CCDC39):c.2407-8A>T rs769021943
NM_181426.2(CCDC39):c.2407-9T>C rs878855282
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr) rs561458801
NM_181426.2(CCDC39):c.2418C>T (p.Leu806=)
NM_181426.2(CCDC39):c.2448A>G (p.Thr816=)
NM_181426.2(CCDC39):c.2454T>C (p.Asp818=)
NM_181426.2(CCDC39):c.2460A>C (p.Thr820=)
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=)
NM_181426.2(CCDC39):c.246T>C (p.Ser82=)
NM_181426.2(CCDC39):c.24G>A (p.Glu8=)
NM_181426.2(CCDC39):c.2517T>C (p.Asp839=)
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) rs1717252361
NM_181426.2(CCDC39):c.2532T>C (p.Asp844=)
NM_181426.2(CCDC39):c.2550T>G (p.Thr850=)
NM_181426.2(CCDC39):c.2553G>A (p.Glu851=)
NM_181426.2(CCDC39):c.2574A>G (p.Thr858=)
NM_181426.2(CCDC39):c.2586+11A>G
NM_181426.2(CCDC39):c.2586+12C>A
NM_181426.2(CCDC39):c.2586+13C>A
NM_181426.2(CCDC39):c.2586+15_2586+17del
NM_181426.2(CCDC39):c.2586+20T>C
NM_181426.2(CCDC39):c.2586+7C>A
NM_181426.2(CCDC39):c.2587-12A>C
NM_181426.2(CCDC39):c.2587-17A>G
NM_181426.2(CCDC39):c.2587-20_2587-19delinsAG rs2108404051
NM_181426.2(CCDC39):c.2587-4C>T rs1576929567
NM_181426.2(CCDC39):c.25C>T (p.Leu9=) rs886038750
NM_181426.2(CCDC39):c.2604T>C (p.Pro868=)
NM_181426.2(CCDC39):c.2613C>T (p.Ser871=)
NM_181426.2(CCDC39):c.2625T>C (p.Ser875=)
NM_181426.2(CCDC39):c.2646T>G (p.Pro882=)
NM_181426.2(CCDC39):c.2649A>C (p.Ser883=)
NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
NM_181426.2(CCDC39):c.2664A>G (p.Ser888=)
NM_181426.2(CCDC39):c.2669+10G>C
NM_181426.2(CCDC39):c.2669+11G>A
NM_181426.2(CCDC39):c.2669+11G>C
NM_181426.2(CCDC39):c.2669+12del
NM_181426.2(CCDC39):c.2669+19A>G
NM_181426.2(CCDC39):c.2669+20A>G
NM_181426.2(CCDC39):c.2669+7G>A
NM_181426.2(CCDC39):c.2670-13G>T
NM_181426.2(CCDC39):c.2670-17T>G
NM_181426.2(CCDC39):c.2697T>C (p.Thr899=)
NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) rs886058198
NM_181426.2(CCDC39):c.2749C>T (p.Leu917=)
NM_181426.2(CCDC39):c.2784T>C (p.Ser928=)
NM_181426.2(CCDC39):c.2790C>T (p.Ser930=)
NM_181426.2(CCDC39):c.2799T>C (p.Asn933=)
NM_181426.2(CCDC39):c.2814G>A (p.Lys938=)
NM_181426.2(CCDC39):c.2817C>T (p.Ser939=)
NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
NM_181426.2(CCDC39):c.357+11A>G
NM_181426.2(CCDC39):c.357+14T>C
NM_181426.2(CCDC39):c.358-14T>C
NM_181426.2(CCDC39):c.358-18T>C
NM_181426.2(CCDC39):c.358-19C>G
NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
NM_181426.2(CCDC39):c.516+11A>G
NM_181426.2(CCDC39):c.516+12_516+14del
NM_181426.2(CCDC39):c.516+14A>C rs377363801
NM_181426.2(CCDC39):c.516+16T>A
NM_181426.2(CCDC39):c.516+18G>A
NM_181426.2(CCDC39):c.516+18G>T
NM_181426.2(CCDC39):c.516+20A>T
NM_181426.2(CCDC39):c.516+9T>C rs2108429420
NM_181426.2(CCDC39):c.517-13A>G
NM_181426.2(CCDC39):c.517-14T>C
NM_181426.2(CCDC39):c.517-15A>G
NM_181426.2(CCDC39):c.517-17A>G
NM_181426.2(CCDC39):c.517-18T>C
NM_181426.2(CCDC39):c.517-7A>T
NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
NM_181426.2(CCDC39):c.552A>G (p.Glu184=)
NM_181426.2(CCDC39):c.570G>A (p.Lys190=)
NM_181426.2(CCDC39):c.588T>G (p.Leu196=)
NM_181426.2(CCDC39):c.597T>C (p.Thr199=)
NM_181426.2(CCDC39):c.606A>T (p.Ala202=)
NM_181426.2(CCDC39):c.610-16G>T
NM_181426.2(CCDC39):c.610-20C>T
NM_181426.2(CCDC39):c.610-7T>C rs1576949405
NM_181426.2(CCDC39):c.610-8_610-5del
NM_181426.2(CCDC39):c.610-9G>A
NM_181426.2(CCDC39):c.610-9G>C
NM_181426.2(CCDC39):c.63C>T (p.Asn21=)
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_181426.2(CCDC39):c.666A>G (p.Glu222=)
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
NM_181426.2(CCDC39):c.714T>C (p.Asp238=)
NM_181426.2(CCDC39):c.723A>T (p.Ile241=)
NM_181426.2(CCDC39):c.72C>T (p.Asn24=)
NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)
NM_181426.2(CCDC39):c.738+11T>C
NM_181426.2(CCDC39):c.738+7T>C
NM_181426.2(CCDC39):c.739-13G>A
NM_181426.2(CCDC39):c.739-17_739-16del
NM_181426.2(CCDC39):c.739-19A>G
NM_181426.2(CCDC39):c.765G>A (p.Thr255=)
NM_181426.2(CCDC39):c.765G>T (p.Thr255=)
NM_181426.2(CCDC39):c.781T>C (p.Leu261=)
NM_181426.2(CCDC39):c.79C>T (p.Leu27=)
NM_181426.2(CCDC39):c.801G>A (p.Lys267=)
NM_181426.2(CCDC39):c.813T>C (p.Ser271=)
NM_181426.2(CCDC39):c.816G>A (p.Glu272=)
NM_181426.2(CCDC39):c.81G>A (p.Leu27=)
NM_181426.2(CCDC39):c.822G>A (p.Gly274=)
NM_181426.2(CCDC39):c.852T>C (p.Ser284=)
NM_181426.2(CCDC39):c.861T>C (p.Asp287=)
NM_181426.2(CCDC39):c.873A>G (p.Leu291=)
NM_181426.2(CCDC39):c.888A>G (p.Ala296=)
NM_181426.2(CCDC39):c.90+12T>A
NM_181426.2(CCDC39):c.90+15A>G
NM_181426.2(CCDC39):c.90+16G>T
NM_181426.2(CCDC39):c.90+17C>G
NM_181426.2(CCDC39):c.90+7T>A
NM_181426.2(CCDC39):c.90+7T>G
NM_181426.2(CCDC39):c.91-17G>A
NM_181426.2(CCDC39):c.91-20A>G
NM_181426.2(CCDC39):c.91-4A>G
NM_181426.2(CCDC39):c.918G>A (p.Gln306=)
NM_181426.2(CCDC39):c.930+12C>A
NM_181426.2(CCDC39):c.930+14A>C
NM_181426.2(CCDC39):c.930+17_930+18del rs765920330
NM_181426.2(CCDC39):c.930+9A>G rs188183242
NM_181426.2(CCDC39):c.930+9A>T
NM_181426.2(CCDC39):c.931-10TAA[3]
NM_181426.2(CCDC39):c.931-16G>A
NM_181426.2(CCDC39):c.931-19T>C
NM_181426.2(CCDC39):c.931-20G>C
NM_181426.2(CCDC39):c.931-20G>T
NM_181426.2(CCDC39):c.931-9A>G
NM_181426.2(CCDC39):c.954G>A (p.Val318=)
NM_181426.2(CCDC39):c.984G>A (p.Leu328=)
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
NM_198428.3(BBS9):c.1016+19C>T
NM_198428.3(BBS9):c.1016+20A>G rs2128347768
NM_198428.3(BBS9):c.1016+7del
NM_198428.3(BBS9):c.1016+8A>G
NM_198428.3(BBS9):c.1016+8A>T
NM_198428.3(BBS9):c.1017-14C>T
NM_198428.3(BBS9):c.1017-4G>T
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
NM_198428.3(BBS9):c.1059C>T (p.His353=) rs2128625827
NM_198428.3(BBS9):c.105T>C (p.Asn35=) rs577536627
NM_198428.3(BBS9):c.1065G>A (p.Gln355=) rs756380526
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
NM_198428.3(BBS9):c.1107A>G (p.Pro369=) rs1227576006
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
NM_198428.3(BBS9):c.112+11T>G rs1792345660
NM_198428.3(BBS9):c.112+18A>G
NM_198428.3(BBS9):c.112+19T>A
NM_198428.3(BBS9):c.112+21_112+22del
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
NM_198428.3(BBS9):c.113-17_113-16insG
NM_198428.3(BBS9):c.113-9T>C rs1793527699
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
NM_198428.3(BBS9):c.1198+11T>C
NM_198428.3(BBS9):c.1198+12G>T
NM_198428.3(BBS9):c.1198+14A>T
NM_198428.3(BBS9):c.1198+15G>T
NM_198428.3(BBS9):c.1198+16C>G
NM_198428.3(BBS9):c.1198+9T>C
NM_198428.3(BBS9):c.1199-12T>C
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
NM_198428.3(BBS9):c.1275+19T>A
NM_198428.3(BBS9):c.1276-10G>T
NM_198428.3(BBS9):c.1276-15del rs2128646892
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
NM_198428.3(BBS9):c.1302T>G (p.Thr434=) rs1173516747
NM_198428.3(BBS9):c.1305C>T (p.Asp435=) rs2128647066
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
NM_198428.3(BBS9):c.1329+11A>G
NM_198428.3(BBS9):c.1329+14T>A
NM_198428.3(BBS9):c.1329+9C>A rs747489914
NM_198428.3(BBS9):c.1330-10G>T
NM_198428.3(BBS9):c.1330-17A>G
NM_198428.3(BBS9):c.1330-18C>A rs547699537
NM_198428.3(BBS9):c.1330-18_1330-16del
NM_198428.3(BBS9):c.1330-19A>G
NM_198428.3(BBS9):c.1330-6C>T
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
NM_198428.3(BBS9):c.1432+12G>A
NM_198428.3(BBS9):c.1432+12G>C
NM_198428.3(BBS9):c.1433-12C>A
NM_198428.3(BBS9):c.1433-19A>T
NM_198428.3(BBS9):c.1433-9T>C
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
NM_198428.3(BBS9):c.1537+12G>C
NM_198428.3(BBS9):c.1537+13dup
NM_198428.3(BBS9):c.1537+20C>A
NM_198428.3(BBS9):c.1537+20C>T
NM_198428.3(BBS9):c.1537+9A>G rs2128667783
NM_198428.3(BBS9):c.1538-13C>A
NM_198428.3(BBS9):c.1538-13C>T
NM_198428.3(BBS9):c.1538-17T>C
NM_198428.3(BBS9):c.1538-4A>G
NM_198428.3(BBS9):c.1552+17T>C
NM_198428.3(BBS9):c.1553-12C>G
NM_198428.3(BBS9):c.1553-14C>T
NM_198428.3(BBS9):c.1553-20A>C
NM_198428.3(BBS9):c.1553-20A>G
NM_198428.3(BBS9):c.1553-8T>C
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
NM_198428.3(BBS9):c.165T>C (p.His55=)
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
NM_198428.3(BBS9):c.1694-10T>C
NM_198428.3(BBS9):c.1694-4G>A
NM_198428.3(BBS9):c.1694-4G>C
NM_198428.3(BBS9):c.1694-6T>G rs28622379
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
NM_198428.3(BBS9):c.1743C>T (p.His581=)
NM_198428.3(BBS9):c.1749A>G (p.Leu583=) rs1822081249
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
NM_198428.3(BBS9):c.1776T>G (p.Ala592=) rs2128714393
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
NM_198428.3(BBS9):c.1789+12C>A
NM_198428.3(BBS9):c.1789+15G>C
NM_198428.3(BBS9):c.1790-13T>A
NM_198428.3(BBS9):c.1790-16A>C
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1790-18T>A rs2128748428
NM_198428.3(BBS9):c.1790-19C>T
NM_198428.3(BBS9):c.1790-20C>G
NM_198428.3(BBS9):c.1790-7C>A
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1962+11T>C
NM_198428.3(BBS9):c.1962+17C>T
NM_198428.3(BBS9):c.1962+18C>A
NM_198428.3(BBS9):c.1962+18C>G
NM_198428.3(BBS9):c.1962+9G>A
NM_198428.3(BBS9):c.1963-10T>C
NM_198428.3(BBS9):c.1963-15A>G
NM_198428.3(BBS9):c.1963-18A>C
NM_198428.3(BBS9):c.1963-4G>A
NM_198428.3(BBS9):c.1963-8C>A
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
NM_198428.3(BBS9):c.2016A>G (p.Gln672=) rs2128756519
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
NM_198428.3(BBS9):c.2037G>A (p.Arg679=) rs774728969
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
NM_198428.3(BBS9):c.2082C>T (p.His694=)
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
NM_198428.3(BBS9):c.2100T>C (p.Asp700=) rs1826369751
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
NM_198428.3(BBS9):c.2115+12A>G
NM_198428.3(BBS9):c.2115+15A>C
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2115+20_2115+21del
NM_198428.3(BBS9):c.2115+9A>G
NM_198428.3(BBS9):c.2116-12dup
NM_198428.3(BBS9):c.2116-13G>C
NM_198428.3(BBS9):c.2116-15T>C rs1846018417
NM_198428.3(BBS9):c.2116-17G>A
NM_198428.3(BBS9):c.2116-20G>T
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
NM_198428.3(BBS9):c.2179C>T (p.Leu727=) rs373177157
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
NM_198428.3(BBS9):c.2217G>A (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2217G>T (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
NM_198428.3(BBS9):c.2262G>A (p.Ala754=) rs751886707
NM_198428.3(BBS9):c.2271G>C (p.Leu757=) rs2129016290
NM_198428.3(BBS9):c.2277A>G (p.Leu759=) rs1052268884
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
NM_198428.3(BBS9):c.2298+16C>T
NM_198428.3(BBS9):c.2298+8C>A rs2129016313
NM_198428.3(BBS9):c.2299-12T>C
NM_198428.3(BBS9):c.2299-14G>C
NM_198428.3(BBS9):c.2299-19A>G
NM_198428.3(BBS9):c.2299-4C>G
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
NM_198428.3(BBS9):c.2337G>A (p.Leu779=) rs2129059212
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
NM_198428.3(BBS9):c.2355G>A (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>C (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
NM_198428.3(BBS9):c.2499C>T (p.Ala833=) rs1163398668
NM_198428.3(BBS9):c.249A>C (p.Val83=)
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
NM_198428.3(BBS9):c.2521+11dup
NM_198428.3(BBS9):c.2521+16A>C
NM_198428.3(BBS9):c.2521+19C>G
NM_198428.3(BBS9):c.2521+20T>C
NM_198428.3(BBS9):c.2522-13A>C
NM_198428.3(BBS9):c.2522-15G>C
NM_198428.3(BBS9):c.2522-7C>A
NM_198428.3(BBS9):c.2522-7del
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
NM_198428.3(BBS9):c.261T>G (p.Val87=) rs2128108429
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
NM_198428.3(BBS9):c.263+13A>G
NM_198428.3(BBS9):c.263+16A>G
NM_198428.3(BBS9):c.2632+10del
NM_198428.3(BBS9):c.2632+13A>T
NM_198428.3(BBS9):c.2632+8A>C
NM_198428.3(BBS9):c.2633-11T>C
NM_198428.3(BBS9):c.2633-16C>T
NM_198428.3(BBS9):c.2633-16CT[2]
NM_198428.3(BBS9):c.2633-5T>C
NM_198428.3(BBS9):c.2633-6T>C rs2129208551
NM_198428.3(BBS9):c.264-10T>C
NM_198428.3(BBS9):c.264-11C>G
NM_198428.3(BBS9):c.264-11_264-10del
NM_198428.3(BBS9):c.264-12T>G
NM_198428.3(BBS9):c.264-14T>C
NM_198428.3(BBS9):c.264-14T>G rs759013829
NM_198428.3(BBS9):c.264-16T>G
NM_198428.3(BBS9):c.264-4T>C
NM_198428.3(BBS9):c.2643C>T (p.Pro881=) rs2129208595
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
NM_198428.3(BBS9):c.315C>G (p.Val105=) rs1051716854
NM_198428.3(BBS9):c.321T>G (p.Ser107=) rs2128114803
NM_198428.3(BBS9):c.324C>A (p.Val108=)
NM_198428.3(BBS9):c.328+11T>C rs1793997816
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+16A>C rs749205665
NM_198428.3(BBS9):c.328+16_328+27del rs770155616
NM_198428.3(BBS9):c.328+20A>G
NM_198428.3(BBS9):c.328+7A>T
NM_198428.3(BBS9):c.329-13T>C
NM_198428.3(BBS9):c.329-19C>T
NM_198428.3(BBS9):c.329-19_329-17del
NM_198428.3(BBS9):c.329-5del rs1797490601
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.329-7T>C rs976567513
NM_198428.3(BBS9):c.329-8T>C
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
NM_198428.3(BBS9):c.402A>G (p.Thr134=) rs2128163033
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
NM_198428.3(BBS9):c.438A>T (p.Val146=)
NM_198428.3(BBS9):c.442+16T>A
NM_198428.3(BBS9):c.442+19T>C
NM_198428.3(BBS9):c.442+7T>G rs1470563544
NM_198428.3(BBS9):c.443-17C>A
NM_198428.3(BBS9):c.443-20T>C
NM_198428.3(BBS9):c.443-6_443-4del
NM_198428.3(BBS9):c.443-8T>C
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.540G>A (p.Leu180=)
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
NM_198428.3(BBS9):c.555C>G (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
NM_198428.3(BBS9):c.606G>A (p.Val202=)
NM_198428.3(BBS9):c.617+11A>T
NM_198428.3(BBS9):c.617+13G>A
NM_198428.3(BBS9):c.617+17A>C
NM_198428.3(BBS9):c.617+7T>C
NM_198428.3(BBS9):c.618-14T>C
NM_198428.3(BBS9):c.618-17A>T
NM_198428.3(BBS9):c.618-18T>A
NM_198428.3(BBS9):c.618-4A>G
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
NM_198428.3(BBS9):c.699A>C (p.Leu233=) rs1326295377
NM_198428.3(BBS9):c.702+10T>C
NM_198428.3(BBS9):c.702+13T>C
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198428.3(BBS9):c.702+16A>G
NM_198428.3(BBS9):c.702+18T>C
NM_198428.3(BBS9):c.702+20T>C rs756668480
NM_198428.3(BBS9):c.703-14G>A
NM_198428.3(BBS9):c.703-17T>C
NM_198428.3(BBS9):c.703-18T>C
NM_198428.3(BBS9):c.703-19A>G
NM_198428.3(BBS9):c.705G>A (p.Val235=)
NM_198428.3(BBS9):c.753C>T (p.Val251=) rs2128344695
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
NM_198428.3(BBS9):c.786T>A (p.Val262=)
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
NM_198428.3(BBS9):c.852T>C (p.Asp284=) rs2128345148
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
NM_198428.3(BBS9):c.886+11A>G
NM_198428.3(BBS9):c.886+11dup rs2128345419
NM_198428.3(BBS9):c.886+12G>A
NM_198428.3(BBS9):c.886+12G>T
NM_198428.3(BBS9):c.886+17del rs774382014
NM_198428.3(BBS9):c.886+19T>C
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.886+7_886+8insAAA rs768793235
NM_198428.3(BBS9):c.886+8G>A rs745781708
NM_198428.3(BBS9):c.886+9A>G
NM_198428.3(BBS9):c.887-15A>C
NM_198428.3(BBS9):c.887-16T>C
NM_198428.3(BBS9):c.887-17G>A
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
NM_198428.3(BBS9):c.9A>G (p.Leu3=)
NM_198525.3(KIF7):c.1008C>T (p.Thr336=)
NM_198525.3(KIF7):c.1023C>T (p.Asn341=)
NM_198525.3(KIF7):c.1140C>G (p.Ser380=)
NM_198525.3(KIF7):c.1152C>A (p.Ile384=)
NM_198525.3(KIF7):c.1161C>T (p.Arg387=) rs2142028813
NM_198525.3(KIF7):c.1191C>T (p.Ala397=)
NM_198525.3(KIF7):c.1194C>T (p.Ser398=)
NM_198525.3(KIF7):c.1200G>A (p.Ala400=)
NM_198525.3(KIF7):c.1203C>G (p.Ala401=)
NM_198525.3(KIF7):c.1203C>T (p.Ala401=)
NM_198525.3(KIF7):c.1221C>G (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1251C>T (p.Asp417=) rs1964057629
NM_198525.3(KIF7):c.1254C>T (p.Ala418=)
NM_198525.3(KIF7):c.1260C>T (p.Tyr420=) rs1055440260
NM_198525.3(KIF7):c.126A>T (p.Pro42=)
NM_198525.3(KIF7):c.1284C>G (p.Ala428=) rs1355839257
NM_198525.3(KIF7):c.1294C>T (p.Leu432=) rs1964056507
NM_198525.3(KIF7):c.1299C>A (p.Pro433=) rs921943205
NM_198525.3(KIF7):c.1299C>T (p.Pro433=)
NM_198525.3(KIF7):c.1308C>T (p.Ala436=)
NM_198525.3(KIF7):c.1338C>G (p.Ala446=)
NM_198525.3(KIF7):c.1350G>A (p.Glu450=)
NM_198525.3(KIF7):c.1360C>T (p.Leu454=) rs794727743
NM_198525.3(KIF7):c.1368C>A (p.Ser456=) rs958419453
NM_198525.3(KIF7):c.1380C>A (p.Pro460=)
NM_198525.3(KIF7):c.1380C>G (p.Pro460=)
NM_198525.3(KIF7):c.1401C>G (p.Ala467=)
NM_198525.3(KIF7):c.1407C>T (p.Val469=)
NM_198525.3(KIF7):c.1422G>A (p.Ala474=) rs781285831
NM_198525.3(KIF7):c.1443+11G>C
NM_198525.3(KIF7):c.1443+19G>A
NM_198525.3(KIF7):c.1444-20C>A
NM_198525.3(KIF7):c.1444-6C>T rs2142026695
NM_198525.3(KIF7):c.1458G>A (p.Ala486=)
NM_198525.3(KIF7):c.1458G>C (p.Ala486=)
NM_198525.3(KIF7):c.1465C>T (p.Leu489=) rs747377638
NM_198525.3(KIF7):c.1491G>A (p.Ala497=)
NM_198525.3(KIF7):c.1494G>T (p.Arg498=)
NM_198525.3(KIF7):c.1545G>A (p.Glu515=)
NM_198525.3(KIF7):c.1560+11C>T rs748805814
NM_198525.3(KIF7):c.1560+7C>T
NM_198525.3(KIF7):c.1561-11A>G
NM_198525.3(KIF7):c.1561-12C>T
NM_198525.3(KIF7):c.1561-17T>C
NM_198525.3(KIF7):c.1566C>T (p.Asp522=)
NM_198525.3(KIF7):c.1587G>A (p.Glu529=)
NM_198525.3(KIF7):c.1629A>G (p.Pro543=)
NM_198525.3(KIF7):c.1659C>G (p.Gly553=) rs1368924416
NM_198525.3(KIF7):c.1704G>A (p.Leu568=)
NM_198525.3(KIF7):c.174C>T (p.His58=)
NM_198525.3(KIF7):c.1752C>G (p.Leu584=)
NM_198525.3(KIF7):c.1758A>G (p.Gly586=)
NM_198525.3(KIF7):c.1780A>C (p.Arg594=)
NM_198525.3(KIF7):c.1789-5C>T
NM_198525.3(KIF7):c.1849A>G (p.Ser617Gly)
NM_198525.3(KIF7):c.186C>A (p.Ala62=)
NM_198525.3(KIF7):c.1878_1883dup (p.Glu630_Glu631dup) rs780304130
NM_198525.3(KIF7):c.1917G>A (p.Leu639=)
NM_198525.3(KIF7):c.1923-15G>A
NM_198525.3(KIF7):c.1926T>C (p.Asn642=)
NM_198525.3(KIF7):c.195G>T (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.1986G>A (p.Lys662=)
NM_198525.3(KIF7):c.2010G>A (p.Glu670=) rs781476519
NM_198525.3(KIF7):c.2028A>C (p.Pro676=) rs2142022153
NM_198525.3(KIF7):c.2038+7_2038+18dup
NM_198525.3(KIF7):c.2038+8G>A
NM_198525.3(KIF7):c.2039-11G>C
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2061A>G (p.Arg687=)
NM_198525.3(KIF7):c.2079C>A (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2079C>G (p.Val693=)
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2082C>A (p.Pro694=) rs928439294
NM_198525.3(KIF7):c.2082C>T (p.Pro694=)
NM_198525.3(KIF7):c.2088C>T (p.Ala696=)
NM_198525.3(KIF7):c.2112C>T (p.Ala704=)
NM_198525.3(KIF7):c.2131C>A (p.Arg711=)
NM_198525.3(KIF7):c.2137C>T (p.Leu713=) rs762264287
NM_198525.3(KIF7):c.2191+10G>A rs1963985277
NM_198525.3(KIF7):c.2191+16C>G
NM_198525.3(KIF7):c.2191+18G>T
NM_198525.3(KIF7):c.2192-13C>G
NM_198525.3(KIF7):c.2192-19C>T
NM_198525.3(KIF7):c.2192-7C>A
NM_198525.3(KIF7):c.219C>G (p.Ala73=)
NM_198525.3(KIF7):c.2202T>A (p.Ala734=) rs1195634938
NM_198525.3(KIF7):c.2242C>T (p.Leu748=)
NM_198525.3(KIF7):c.2265G>A (p.Val755=)
NM_198525.3(KIF7):c.2268G>A (p.Arg756=)
NM_198525.3(KIF7):c.2298G>A (p.Leu766=)
NM_198525.3(KIF7):c.231C>G (p.Pro77=)
NM_198525.3(KIF7):c.231C>T (p.Pro77=)
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2352G>A (p.Gln784=)
NM_198525.3(KIF7):c.2370C>A (p.Val790=)
NM_198525.3(KIF7):c.2370C>G (p.Val790=)
NM_198525.3(KIF7):c.2376G>A (p.Ala792=)
NM_198525.3(KIF7):c.2388G>A (p.Gln796=) rs781770350
NM_198525.3(KIF7):c.2394+13G>T rs2142016789
NM_198525.3(KIF7):c.2394+14C>T
NM_198525.3(KIF7):c.2394+9C>T
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2421G>C (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2463G>A (p.Leu821=)
NM_198525.3(KIF7):c.2463G>T (p.Leu821=)
NM_198525.3(KIF7):c.2484G>C (p.Val828=) rs774738288
NM_198525.3(KIF7):c.2494C>A (p.Arg832=) rs745638889
NM_198525.3(KIF7):c.249C>T (p.Phe83=)
NM_198525.3(KIF7):c.2508A>G (p.Gly836=)
NM_198525.3(KIF7):c.2520G>A (p.Arg840=)
NM_198525.3(KIF7):c.2526T>G (p.Leu842=)
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu) rs141514601
NM_198525.3(KIF7):c.2592+12G>A rs370749315
NM_198525.3(KIF7):c.2592+12G>T rs370749315
NM_198525.3(KIF7):c.2592+19T>G
NM_198525.3(KIF7):c.2593-10C>T
NM_198525.3(KIF7):c.2593-9C>T
NM_198525.3(KIF7):c.2625G>A (p.Lys875=) rs1963725377
NM_198525.3(KIF7):c.2631G>A (p.Leu877=) rs2142001419
NM_198525.3(KIF7):c.2643G>A (p.Thr881=)
NM_198525.3(KIF7):c.2646A>G (p.Glu882=)
NM_198525.3(KIF7):c.2649G>A (p.Glu883=)
NM_198525.3(KIF7):c.2649G>T (p.Glu883Asp) rs765751072
NM_198525.3(KIF7):c.2673G>A (p.Arg891=)
NM_198525.3(KIF7):c.2676C>T (p.Arg892=) rs2142001297
NM_198525.3(KIF7):c.2719-11_2719-10insCCTCCCTCCCTCCCTC
NM_198525.3(KIF7):c.2719-13_2719-12insCCTCCCTCCCTCCCTG
NM_198525.3(KIF7):c.2719-13_2719-12insCTCCCTCCCTCCCTCA rs1555423473
NM_198525.3(KIF7):c.2719-13_2719-12insCTCCCTCCCTCCCTCT
NM_198525.3(KIF7):c.2719-13_2719-12insTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTACC
NM_198525.3(KIF7):c.2719-13_2719-12insTCCCTCCCTCCCTCCT
NM_198525.3(KIF7):c.2719-16_2719-15insTCCCTCCCTCCCTCTC rs760152151
NM_198525.3(KIF7):c.2719-18C>T
NM_198525.3(KIF7):c.2719-19_2719-18insTCCCTCCCTCCTTCCC rs753551789
NM_198525.3(KIF7):c.2719-28CCCT[10] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[11] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[12] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[13] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[14] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[3] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[5] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[6] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[7] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[9] rs3840030
NM_198525.3(KIF7):c.2719-5C>T
NM_198525.3(KIF7):c.2719-7T>G
NM_198525.3(KIF7):c.2719-9_2719-8insTCCCTCCCTCCC rs1445715606
NM_198525.3(KIF7):c.2736G>A (p.Lys912=)
NM_198525.3(KIF7):c.2776C>A (p.Arg926=) rs147407072
NM_198525.3(KIF7):c.2784G>A (p.Ala928=)
NM_198525.3(KIF7):c.2784G>T (p.Ala928=)
NM_198525.3(KIF7):c.2805G>A (p.Glu935=) rs1216364737
NM_198525.3(KIF7):c.2808C>G (p.Leu936=) rs1006371075
NM_198525.3(KIF7):c.2844C>T (p.Ala948=) rs1395282434
NM_198525.3(KIF7):c.2847G>A (p.Leu949=)
NM_198525.3(KIF7):c.2862G>A (p.Thr954=)
NM_198525.3(KIF7):c.2877G>A (p.Lys959=)
NM_198525.3(KIF7):c.2880C>A (p.Arg960=)
NM_198525.3(KIF7):c.2880C>G (p.Arg960=) rs761354914
NM_198525.3(KIF7):c.2895+7C>T rs549295826
NM_198525.3(KIF7):c.2895+8C>T
NM_198525.3(KIF7):c.2896-10C>G
NM_198525.3(KIF7):c.2896-4C>T rs1410746124
NM_198525.3(KIF7):c.2896-7C>T
NM_198525.3(KIF7):c.2896-8G>A
NM_198525.3(KIF7):c.2898C>T (p.Ala966=)
NM_198525.3(KIF7):c.2904C>T (p.Asn968=)
NM_198525.3(KIF7):c.303A>G (p.Thr101=) rs2142036201
NM_198525.3(KIF7):c.3064C>T (p.Leu1022=)
NM_198525.3(KIF7):c.3108C>A (p.Pro1036=)
NM_198525.3(KIF7):c.3108C>T (p.Pro1036=) rs201713717
NM_198525.3(KIF7):c.3111+11G>A
NM_198525.3(KIF7):c.3111+17T>C
NM_198525.3(KIF7):c.3111+9C>T rs147996726
NM_198525.3(KIF7):c.3112-18G>A
NM_198525.3(KIF7):c.3117G>A (p.Glu1039=)
NM_198525.3(KIF7):c.3133T>C (p.Leu1045=)
NM_198525.3(KIF7):c.3141G>A (p.Glu1047=) rs2141996092
NM_198525.3(KIF7):c.3171G>A (p.Glu1057=)
NM_198525.3(KIF7):c.3189C>T (p.Ile1063=) rs2141996021
NM_198525.3(KIF7):c.3192A>G (p.Thr1064=)
NM_198525.3(KIF7):c.3225G>T (p.Ser1075=) rs375802364
NM_198525.3(KIF7):c.3237G>A (p.Gln1079=)
NM_198525.3(KIF7):c.328+17G>A
NM_198525.3(KIF7):c.329-15G>T
NM_198525.3(KIF7):c.329-26_329-13del rs556031779
NM_198525.3(KIF7):c.3294C>G (p.Ala1098=) rs763451105
NM_198525.3(KIF7):c.330C>T (p.Ala110=)
NM_198525.3(KIF7):c.3318+14C>T
NM_198525.3(KIF7):c.3318+17T>C
NM_198525.3(KIF7):c.3319-10C>T rs941867635
NM_198525.3(KIF7):c.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3319-13_3319-12del rs2141994477
NM_198525.3(KIF7):c.3319-16C>G
NM_198525.3(KIF7):c.3319-18G>A
NM_198525.3(KIF7):c.3331C>A (p.Arg1111=) rs778139192
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3345C>T (p.His1115=) rs142032413
NM_198525.3(KIF7):c.3360C>T (p.Ala1120=)
NM_198525.3(KIF7):c.3366G>C (p.Ser1122=)
NM_198525.3(KIF7):c.3402G>A (p.Leu1134=) rs1963624030
NM_198525.3(KIF7):c.3417G>A (p.Glu1139=)
NM_198525.3(KIF7):c.3426G>A (p.Leu1142=)
NM_198525.3(KIF7):c.3441G>A (p.Leu1147=)
NM_198525.3(KIF7):c.3453C>T (p.Arg1151=)
NM_198525.3(KIF7):c.3456G>A (p.Gln1152=) rs769648374
NM_198525.3(KIF7):c.3480C>T (p.His1160=)
NM_198525.3(KIF7):c.3483G>A (p.Glu1161=)
NM_198525.3(KIF7):c.3489C>T (p.Asn1163=)
NM_198525.3(KIF7):c.3517+12G>A
NM_198525.3(KIF7):c.3517+9C>A
NM_198525.3(KIF7):c.3518-13C>G rs955750866
NM_198525.3(KIF7):c.3518-16G>A rs376062532
NM_198525.3(KIF7):c.3518-16G>T
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=) rs778389919
NM_198525.3(KIF7):c.351G>A (p.Gln117=)
NM_198525.3(KIF7):c.3582G>A (p.Glu1194=) rs575165138
NM_198525.3(KIF7):c.3589C>T (p.Leu1197=) rs886038761
NM_198525.3(KIF7):c.3600C>T (p.Tyr1200=)
NM_198525.3(KIF7):c.3612C>T (p.Asn1204=) rs918639337
NM_198525.3(KIF7):c.3664+12T>C
NM_198525.3(KIF7):c.3664+14G>A
NM_198525.3(KIF7):c.3664+15C>A rs199716624
NM_198525.3(KIF7):c.3664+16G>A
NM_198525.3(KIF7):c.3664+16G>C
NM_198525.3(KIF7):c.3664+16G>T
NM_198525.3(KIF7):c.3664+9T>C
NM_198525.3(KIF7):c.3665-13C>T
NM_198525.3(KIF7):c.3665-14_3665-10dup rs761932434
NM_198525.3(KIF7):c.3665-7A>G
NM_198525.3(KIF7):c.3665-8C>T
NM_198525.3(KIF7):c.3687C>T (p.Cys1229=)
NM_198525.3(KIF7):c.3732G>A (p.Leu1244=)
NM_198525.3(KIF7):c.3732G>T (p.Leu1244=)
NM_198525.3(KIF7):c.3744T>G (p.Leu1248=)
NM_198525.3(KIF7):c.3753G>T (p.Leu1251=) rs140121479
NM_198525.3(KIF7):c.3759C>A (p.Pro1253=) rs147767277
NM_198525.3(KIF7):c.375C>G (p.Ala125=) rs370413810
NM_198525.3(KIF7):c.375C>T (p.Ala125=) rs370413810
NM_198525.3(KIF7):c.3816G>A (p.Pro1272=)
NM_198525.3(KIF7):c.3816G>T (p.Pro1272=) rs772866453
NM_198525.3(KIF7):c.3825G>A (p.Leu1275=)
NM_198525.3(KIF7):c.3870C>G (p.Pro1290=) rs761421026
NM_198525.3(KIF7):c.3870C>T (p.Pro1290=) rs761421026
NM_198525.3(KIF7):c.3877C>T (p.Leu1293=)
NM_198525.3(KIF7):c.390C>G (p.Leu130=)
NM_198525.3(KIF7):c.3912G>C (p.Gly1304=)
NM_198525.3(KIF7):c.3913C>A (p.Arg1305=)
NM_198525.3(KIF7):c.3927G>A (p.Val1309=)
NM_198525.3(KIF7):c.393C>T (p.Ile131=) rs537169269
NM_198525.3(KIF7):c.3954T>C (p.Phe1318=) rs2141991003
NM_198525.3(KIF7):c.3972C>G (p.Pro1324=) rs2141990923
NM_198525.3(KIF7):c.3978G>C (p.Arg1326=) rs754774163
NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)
NM_198525.3(KIF7):c.4023C>T (p.Asn1341=)
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.426T>C (p.His142=)
NM_198525.3(KIF7):c.529+11C>G
NM_198525.3(KIF7):c.529+9C>G
NM_198525.3(KIF7):c.530-14T>G
NM_198525.3(KIF7):c.534G>T (p.Leu178=)
NM_198525.3(KIF7):c.54T>C (p.Val18=)
NM_198525.3(KIF7):c.555C>T (p.Asp185=)
NM_198525.3(KIF7):c.586C>T (p.Leu196=)
NM_198525.3(KIF7):c.603G>C (p.Ala201=)
NM_198525.3(KIF7):c.624G>C (p.Thr208=)
NM_198525.3(KIF7):c.639G>A (p.Leu213=) rs2142030946
NM_198525.3(KIF7):c.651A>C (p.Ser217=) rs1964082404
NM_198525.3(KIF7):c.657G>A (p.Thr219=)
NM_198525.3(KIF7):c.657G>T (p.Thr219=)
NM_198525.3(KIF7):c.687G>T (p.Gly229=)
NM_198525.3(KIF7):c.690C>T (p.Arg230=)
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.714C>T (p.Pro238=)
NM_198525.3(KIF7):c.726G>A (p.Gln242=)
NM_198525.3(KIF7):c.732C>G (p.Leu244=) rs549780424
NM_198525.3(KIF7):c.756C>T (p.Asp252=) rs2142030504
NM_198525.3(KIF7):c.759G>C (p.Leu253=)
NM_198525.3(KIF7):c.780C>T (p.Leu260=)
NM_198525.3(KIF7):c.795C>A (p.Thr265=)
NM_198525.3(KIF7):c.795C>G (p.Thr265=)
NM_198525.3(KIF7):c.852C>T (p.Asn284=)
NM_198525.3(KIF7):c.861C>T (p.Ser287=)
NM_198525.3(KIF7):c.867G>A (p.Leu289=)
NM_198525.3(KIF7):c.885G>C (p.Arg295=)
NM_198525.3(KIF7):c.906C>A (p.Arg302=) rs1434092015
NM_198525.3(KIF7):c.909C>T (p.Asp303=) rs1964074345
NM_198525.3(KIF7):c.90G>T (p.Leu30=)
NM_198525.3(KIF7):c.918C>T (p.Ile306=)
NM_198525.3(KIF7):c.923+17C>G
NM_198525.3(KIF7):c.923+7T>C
NM_198525.3(KIF7):c.924-19C>T
NM_198525.3(KIF7):c.924-25_924-18del
NM_198525.3(KIF7):c.924-6C>A
NM_198525.3(KIF7):c.939G>C (p.Ser313=)
NM_198525.3(KIF7):c.93G>A (p.Leu31=)
NM_198525.3(KIF7):c.945C>T (p.Gly315=)
NM_198525.3(KIF7):c.948G>T (p.Gly316=)
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538
NM_198525.3(KIF7):c.978C>T (p.Val326=) rs555659148
NM_198525.3(KIF7):c.993C>G (p.Ser331=) rs1365475877
NM_213607.3(CCDC103):c.129C>T (p.Ser43=)
NM_213607.3(CCDC103):c.143+14C>T
NM_213607.3(CCDC103):c.143+8C>T
NM_213607.3(CCDC103):c.144-12C>T
NM_213607.3(CCDC103):c.144-15G>A
NM_213607.3(CCDC103):c.183G>C (p.Arg61=)
NM_213607.3(CCDC103):c.241A>C (p.Arg81=)
NM_213607.3(CCDC103):c.246C>A (p.Thr82=)
NM_213607.3(CCDC103):c.264T>C (p.Thr88=)
NM_213607.3(CCDC103):c.264T>G (p.Thr88=)
NM_213607.3(CCDC103):c.273C>T (p.Ser91=)
NM_213607.3(CCDC103):c.276+10G>A
NM_213607.3(CCDC103):c.276+12C>T
NM_213607.3(CCDC103):c.276+18C>T
NM_213607.3(CCDC103):c.276+19C>T
NM_213607.3(CCDC103):c.277-12T>C
NM_213607.3(CCDC103):c.277-4C>T
NM_213607.3(CCDC103):c.277-8T>C
NM_213607.3(CCDC103):c.285C>A (p.Ala95=)
NM_213607.3(CCDC103):c.288C>A (p.Pro96=)
NM_213607.3(CCDC103):c.288C>T (p.Pro96=)
NM_213607.3(CCDC103):c.297C>G (p.Pro99=)
NM_213607.3(CCDC103):c.297C>T (p.Pro99=) rs112994687
NM_213607.3(CCDC103):c.306T>G (p.Ser102=)
NM_213607.3(CCDC103):c.321T>C (p.Arg107=)
NM_213607.3(CCDC103):c.336C>T (p.His112=)
NM_213607.3(CCDC103):c.363G>A (p.Gln121=)
NM_213607.3(CCDC103):c.367C>T (p.Leu123=)
NM_213607.3(CCDC103):c.402C>T (p.Leu134=)
NM_213607.3(CCDC103):c.462C>T (p.His154=)
NM_213607.3(CCDC103):c.471G>A (p.Pro157=)
NM_213607.3(CCDC103):c.48G>A (p.Leu16=)
NM_213607.3(CCDC103):c.495G>A (p.Gly165=)
NM_213607.3(CCDC103):c.519T>C (p.Thr173=)
NM_213607.3(CCDC103):c.547C>T (p.Leu183=)
NM_213607.3(CCDC103):c.552C>T (p.Ser184=)
NM_213607.3(CCDC103):c.555G>A (p.Arg185=)
NM_213607.3(CCDC103):c.558A>G (p.Ala186=)
NM_213607.3(CCDC103):c.594G>A (p.Leu198=)
NM_213607.3(CCDC103):c.606C>A (p.Gly202=) rs763062802
NM_213607.3(CCDC103):c.630G>A (p.Gly210=)
NM_213607.3(CCDC103):c.633C>T (p.Leu211=)
NM_213607.3(CCDC103):c.648G>A (p.Gln216=)
NM_213607.3(CCDC103):c.657G>A (p.Glu219=)
NM_213607.3(CCDC103):c.66T>A (p.Ala22=)
NM_213607.3(CCDC103):c.66T>C (p.Ala22=)
NM_213607.3(CCDC103):c.675C>T (p.Leu225=)
NM_213607.3(CCDC103):c.696G>A (p.Leu232=)
NM_213607.3(CCDC103):c.69T>C (p.Asp23=)
NM_213607.3(CCDC103):c.711G>A (p.Glu237=)
NM_213607.3(CCDC103):c.717C>T (p.Tyr239=)
NM_213607.3(CCDC103):c.720G>A (p.Gln240=)
NM_213607.3(CCDC103):c.78C>T (p.Tyr26=)
NM_213607.3(CCDC103):c.81A>G (p.Lys27=) rs1567763166

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