ClinVar Miner

List of variants reported as likely benign for autosomal recessive disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2712
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000660.7(TGFB1):c.861-20C>T rs8179181 0.17369
NM_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_018429.3(BDP1):c.2373-15C>T rs66954493 0.04829
NM_021828.5(HPSE2):c.957-28_957-19dup rs113633161 0.04498
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=) rs61736291 0.02140
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) rs9917821 0.01995
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val) rs35069201 0.01889
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 0.01527
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_025074.7(FRAS1):c.1534+19A>G rs6829493 0.01482
NM_020921.4(NIN):c.1728G>A (p.Pro576=) rs61755036 0.01477
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_001124758.3(SPNS2):c.1018C>T (p.Leu340=) rs61746307 0.01432
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_024824.5(ZC3H14):c.432-3T>C rs77755006 0.01392
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001199563.2(BVES):c.708A>C (p.Thr236=) rs61995860 0.01354
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_001171.6(ABCC6):c.474+13G>A rs111339199 0.01326
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp) rs77959782 0.01304
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_001128431.4(SLC39A14):c.939+8G>C rs137890800 0.01283
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_005861.4(STUB1):c.642T>C (p.Leu214=) rs79687861 0.01123
NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro) rs28498765 0.01123
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_004100.5(EYA4):c.*2799C>A rs143596676 0.00882
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala) rs147125035 0.00868
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_001013838.3(CARMIL2):c.3221+20T>C rs56088143 0.00650
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_138501.6(TECR):c.16-15G>A rs113855270 0.00612
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_012473.4(TXN2):c.294G>A (p.Pro98=) rs150502647 0.00588
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_015278.5(SASH1):c.3266G>A (p.Arg1089Gln) rs75149315 0.00569
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_005879.3(TRAIP):c.303G>A (p.Gln101=) rs145932323 0.00538
NM_001267727.2(ARSG):c.1092-5C>T rs111385660 0.00536
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln) rs140846842 0.00528
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00527
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_004618.5(TOP3A):c.180+10C>G rs17805992 0.00515
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_021828.5(HPSE2):c.1194T>C (p.Ala398=) rs111762231 0.00507
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) rs147585323 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_004766.3(COPB2):c.342T>C (p.Ile114=) rs74860267 0.00465
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001242882.2(NAXD):c.840-58C>T rs77771278 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg) rs149004801 0.00401
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln) rs149431491 0.00399
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_201384.3(PLEC):c.4044+16C>T rs182039608 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys) rs35996030 0.00375
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) rs9911283 0.00364
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) rs61729273 0.00354
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys) rs35779668 0.00352
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_022773.4(LMF1):c.384G>C (p.Leu128Phe) rs115313199 0.00337
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_020401.4(NUP107):c.353G>A (p.Arg118His) rs34347775 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059 0.00319
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_004525.3(LRP2):c.2456G>A (p.Arg819His) rs142080405 0.00306
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_025074.7(FRAS1):c.790-20C>T rs74461034 0.00292
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001098484.3(SLC4A4):c.550+3A>G rs199790542 0.00289
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=) rs143682838 0.00289
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=) rs142675468 0.00288
NM_004525.3(LRP2):c.1869C>T (p.Ala623=) rs148468966 0.00288
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_005879.3(TRAIP):c.99-9T>G rs181861135 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_004447.6(EPS8):c.1653G>A (p.Ser551=) rs75362705 0.00284
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val) rs143168314 0.00272
NM_014264.5(PLK4):c.2109C>A (p.Ile703=) rs74770705 0.00271
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) rs183111586 0.00270
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_015932.6(POMP):c.101+9G>A rs116855705 0.00248
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_004560.4(ROR2):c.175+17A>G rs372392835 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_000370.3(TTPA):c.48G>A (p.Ala16=) rs562202164 0.00239
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_005529.7(HSPG2):c.3657-16C>G rs139310195 0.00230
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_004525.3(LRP2):c.8831-13G>A rs144717648 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val) rs145774832 0.00208
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_022773.4(LMF1):c.95C>T (p.Ala32Val) rs199831082 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_000502.6(EPX):c.801+1G>A rs34599426 0.00191
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_022762.5(RMND5B):c.*1820A>G rs201653595 0.00188
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_025074.7(FRAS1):c.1108-12T>G rs150372637 0.00183
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_021828.5(HPSE2):c.290+7C>T rs72840396 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_004525.3(LRP2):c.1976-5T>A rs373234680 0.00167
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=) rs114698511 0.00156
NM_001543.5(NDST1):c.927A>G (p.Pro309=) rs137903526 0.00156
NM_021828.5(HPSE2):c.273C>A (p.Gly91=) rs115042847 0.00156
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) rs34223099 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001098484.3(SLC4A4):c.807+13T>G rs116455604 0.00154
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_018965.4(TREM2):c.140G>A (p.Arg47His) rs75932628 0.00153
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_001376256.1(CRYM):c.524A>T (p.Glu175Val) rs141936944 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_022773.4(LMF1):c.1608G>T (p.Val536=) rs201012186 0.00148
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=) rs138156358 0.00147
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_002335.4(LRP5):c.2828-18T>C rs200093926 0.00145
NM_002335.4(LRP5):c.4488+20A>G rs554995200 0.00145
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=) rs140154839 0.00137
NM_004525.3(LRP2):c.2908+18G>A rs182125868 0.00136
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_032793.5(MFSD2A):c.93+16C>A rs189000715 0.00134
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_014994.3(MAPKBP1):c.1970C>T (p.Thr657Ile) rs139165608 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_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 0.00116
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn) rs199796758 0.00113
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln) rs144633784 0.00108
NM_022773.4(LMF1):c.1092G>A (p.Arg364=) rs111829625 0.00108
NM_201378.4(PLEC):c.71-11512C>T rs201053471 0.00108
NM_178170.3(NEK8):c.889+18G>A rs141084448 0.00107
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_015662.3(IFT172):c.2787+20C>T rs200344602 0.00100
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_003672.4(CDC14A):c.457-6T>C rs202211124 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_004525.3(LRP2):c.1042+19C>T rs183348926 0.00088
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_004525.3(LRP2):c.2909-19C>T rs144286272 0.00087
NM_178170.3(NEK8):c.1299+3G>T rs201629139 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_015662.3(IFT172):c.2787+6G>A rs75805075 0.00086
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) rs149544995 0.00082
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_002335.4(LRP5):c.4112-14T>C rs200717286 0.00078
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=) rs150444121 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu) rs200854813 0.00074
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005881.4(BCKDK):c.717-15C>T rs201213741 0.00072
NM_032856.5(WDR73):c.883+8C>T rs200133030 0.00072
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_025074.7(FRAS1):c.10390-18A>T rs146407399 0.00070
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_000091.5(COL4A3):c.888+17G>A rs199840268 0.00068
NM_000260.4(MYO7A):c.2283-20C>T rs371838579 0.00068
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170 0.00068
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_025074.7(FRAS1):c.9317-4G>A rs142971896 0.00066
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys) rs115260488 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_173551.5(ANKS6):c.2409G>A (p.Ala803=) rs373756771 0.00065
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg) rs150879765 0.00064
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) rs138903794 0.00063
NM_006012.4(CLPP):c.555+16G>A rs74894429 0.00063
NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile) rs200583760 0.00063
NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=) rs187816883 0.00063
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=) rs116104487 0.00062
NM_004525.3(LRP2):c.891T>C (p.Asp297=) rs112343092 0.00062
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_173854.6(SLC41A1):c.993-4A>G rs370322036 0.00062
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_002335.4(LRP5):c.4348+3A>G rs61375162 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) rs79272253 0.00061
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_002335.4(LRP5):c.686+13G>A rs377344481 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199 0.00058
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_002335.4(LRP5):c.1015+17G>C rs374132632 0.00055
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=) rs80038357 0.00053
NM_004560.4(ROR2):c.494+17C>T rs201549038 0.00053
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_173551.5(ANKS6):c.1617+12G>A rs199751679 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_014956.5(CEP164):c.2844+8A>G rs142545580 0.00052
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_012188.5(FOXI1):c.231C>G (p.Pro77=) rs550209761 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_020347.4(LZTFL1):c.881+16C>T rs193075494 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_020347.4(LZTFL1):c.128+13G>A rs192123238 0.00049
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=) rs8071451 0.00048
NM_002335.4(LRP5):c.4348+19G>A rs112052770 0.00048
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) rs201904871 0.00048
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_004525.3(LRP2):c.13728+13G>A rs200492791 0.00046
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_014994.3(MAPKBP1):c.2236C>T (p.Arg746Trp) rs61729964 0.00045
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=) rs146161090 0.00045
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00044
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_013322.3(SNX10):c.212+4A>T rs183941048 0.00043
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_004937.3(CTNS):c.562-20T>C rs764063960 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_021828.5(HPSE2):c.573G>A (p.Glu191=) rs148098032 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_173551.5(ANKS6):c.609C>T (p.His203=) rs372936113 0.00042
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 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_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_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_002335.4(LRP5):c.2763C>T (p.Pro921=) rs147158768 0.00039
NM_002335.4(LRP5):c.4000+11C>G rs367615138 0.00039
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_015102.5(NPHP4):c.117C>T (p.Asp39=) rs368118106 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln) rs77129269 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) rs375796182 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_173551.5(ANKS6):c.1219+18A>T rs372791631 0.00036
NM_000091.5(COL4A3):c.2489-18T>A rs79573480 0.00035
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_173551.5(ANKS6):c.2143-15T>C rs376048873 0.00035
NM_000067.3(CA2):c.139C>T (p.Leu47=) rs145096347 0.00034
NM_000067.3(CA2):c.549C>G (p.Leu183=) rs151021025 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_001013838.3(CARMIL2):c.1509+14C>A rs200523413 0.00034
NM_001171.6(ABCC6):c.3507-15C>T rs374776435 0.00034
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) rs148612649 0.00034
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=) rs200183657 0.00034
NM_021828.5(HPSE2):c.1099-9T>C rs376566722 0.00034
NM_032119.4(ADGRV1):c.208-4A>G rs374070113 0.00034
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
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_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) rs377401079 0.00033
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala) rs56008408 0.00033
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_002335.4(LRP5):c.1248C>T (p.Asn416=) rs149682423 0.00032
NM_002335.4(LRP5):c.2226C>T (p.Ile742=) rs147932332 0.00032
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) rs141577636 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_002335.4(LRP5):c.2503+10G>A rs191125304 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) rs150970767 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_015102.5(NPHP4):c.2305-20C>T rs373131898 0.00031
NM_025074.7(FRAS1):c.396G>A (p.Pro132=) rs370747359 0.00031
NM_025074.7(FRAS1):c.7344C>T (p.Leu2448=) rs201842464 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_173551.5(ANKS6):c.498C>T (p.Ala166=) rs374209515 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 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_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001378454.1(ALMS1):c.9781+19del rs751238172 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_004525.3(LRP2):c.80-13T>C rs201879092 0.00029
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 0.00029
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=) rs149964584 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00028
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_025074.7(FRAS1):c.10649-18T>C rs183886250 0.00028
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) rs140925226 0.00027
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_022168.4(IFIH1):c.2304+3A>G rs376806735 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000281.4(PCBD1):c.57C>T (p.Asn19=) rs114265283 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001171.6(ABCC6):c.3507-17G>A rs58571995 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_005612.5(REST):c.898+15C>T rs148949163 0.00026
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 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_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_033550.4(TP53RK):c.519C>G (p.Pro173=) rs141087837 0.00026
NM_178170.3(NEK8):c.936G>A (p.Ser312=) rs146798411 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) rs150465100 0.00025
NM_002292.4(LAMB2):c.915+16C>T rs376022767 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_014956.5(CEP164):c.3610-4A>G rs111915712 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_016356.5(DCDC2):c.349-15C>T rs200146922 0.00025
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_004525.3(LRP2):c.13108+12G>A rs370126040 0.00024
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) rs138666116 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_014956.5(CEP164):c.1152+16C>T rs375703035 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 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_022098.4(XPNPEP3):c.1357+19A>G rs139881907 0.00024
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) rs375278138 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=) rs187011600 0.00023
NM_000360.4(TH):c.1200+11C>T rs372851419 0.00022
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=) rs151204685 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.488+15G>A rs370558169 0.00022
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=) rs144700973 0.00022
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_032119.4(ADGRV1):c.2734+18T>G rs372642748 0.00022
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001267550.2(TTN):c.40634-10T>A rs375097334 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_002335.4(LRP5):c.1134C>T (p.Ile378=) rs139130382 0.00021
NM_002335.4(LRP5):c.1605G>A (p.Thr535=) rs141896162 0.00021
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=) rs759175453 0.00021
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=) rs149752460 0.00021
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=) rs181346149 0.00021
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) rs145129881 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_015650.4(TRAF3IP1):c.1282+8A>T rs201037417 0.00021
NM_022098.4(XPNPEP3):c.793-18C>T rs201917593 0.00021
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=) rs368304108 0.00021
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) rs201821907 0.00021
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_004525.3(LRP2):c.10768+12C>T rs17848185 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_002335.4(LRP5):c.2358C>T (p.Ile786=) rs140616444 0.00019
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=) rs143482432 0.00019
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) rs150906896 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=) rs367585112 0.00019
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=) rs767860539 0.00019
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=) rs147201722 0.00019
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_001267550.2(TTN):c.38627-16A>G rs1014728001 0.00018
NM_002292.4(LAMB2):c.460-8C>G rs200141829 0.00018
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=) rs201352823 0.00018
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00018
NM_014425.5(INVS):c.1785-20T>G rs200028895 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_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) rs147061645 0.00018
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_002335.4(LRP5):c.2115C>T (p.Asn705=) rs145456776 0.00017
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_004525.3(LRP2):c.828G>A (p.Ser276=) rs146048301 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268 0.00017
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=) rs201469402 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 0.00016
NM_000092.5(COL4A4):c.1987+16T>A rs532962885 0.00016
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_002292.4(LAMB2):c.2344+14A>T rs369733428 0.00016
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=) rs149536828 0.00016
NM_002335.4(LRP5):c.2766C>T (p.Gly922=) rs139372523 0.00016
NM_002335.4(LRP5):c.3237-5C>T rs376163277 0.00016
NM_002335.4(LRP5):c.488+11dup rs771667608 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004525.3(LRP2):c.12072C>T (p.Thr4024=) rs140444992 0.00016
NM_004525.3(LRP2):c.8005+14C>A rs374471253 0.00016
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=) rs200194530 0.00016
NM_004525.3(LRP2):c.8409A>G (p.Val2803=) rs201263376 0.00016
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) rs139915017 0.00016
NM_004560.4(ROR2):c.525G>A (p.Gln175=) rs147616624 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 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_016058.5(TPRKB):c.390G>A (p.Gln130=) rs144417465 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.687+20A>G rs779551290 0.00016
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_173854.6(SLC41A1):c.1161A>G (p.Gln387=) rs145225878 0.00016
NM_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_004525.3(LRP2):c.12461+20C>T rs368683982 0.00015
NM_004525.3(LRP2):c.6040+9T>C rs185280219 0.00015
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=) rs140698184 0.00015
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) rs751280391 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_000091.5(COL4A3):c.2125+14T>A rs563131123 0.00014
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=) rs554940562 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=) rs368695667 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=) rs370035430 0.00014
NM_006642.5(SDCCAG8):c.929+17G>A rs376439930 0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=) rs367736746 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 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_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_173551.5(ANKS6):c.2142+14G>T rs545751955 0.00014
NM_000091.5(COL4A3):c.442-15T>C rs770450269 0.00013
NM_000091.5(COL4A3):c.468+8A>G rs374368957 0.00013
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 0.00013
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) rs779996703 0.00013
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_004560.4(ROR2):c.1524G>A (p.Thr508=) rs114395148 0.00013
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 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_032119.4(ADGRV1):c.8064C>T (p.Ser2688=) rs75195840 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_000091.5(COL4A3):c.4407T>C (p.Ser1469=) rs373720128 0.00012
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=) rs141793628 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_002292.4(LAMB2):c.2720+11A>G rs370034592 0.00012
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_004525.3(LRP2):c.4691+16A>T rs201303681 0.00012
NM_004525.3(LRP2):c.9177C>T (p.Asp3059=) rs763193608 0.00012
NM_004525.3(LRP2):c.975G>A (p.Pro325=) rs368492082 0.00012
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His) rs777171158 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 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_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_178170.3(NEK8):c.1632G>C (p.Val544=) rs766110309 0.00012
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_000067.3(CA2):c.534C>T (p.Phe178=) rs17850824 0.00011
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000092.5(COL4A4):c.2546-6T>C rs199710625 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=) rs377533549 0.00011
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001267550.2(TTN):c.100766-11T>C rs761345673 0.00011
NM_001267550.2(TTN):c.25063+18C>T rs541890371 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=) rs72648204 0.00011
NM_001286445.3(RIPOR2):c.502-10A>C rs199905499 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=) rs140142444 0.00011
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=) rs202207765 0.00011
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=) rs372930578 0.00011
NM_002335.4(LRP5):c.4111+19C>T rs377000624 0.00011
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=) rs139755343 0.00011
NM_002335.4(LRP5):c.714G>A (p.Thr238=) rs149522146 0.00011
NM_002906.4(RDX):c.471A>G (p.Val157=) rs376917034 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004525.3(LRP2):c.12988+18T>C rs201970419 0.00011
NM_004525.3(LRP2):c.1342-13G>A rs372705473 0.00011
NM_004525.3(LRP2):c.8277C>T (p.Arg2759=) rs546544412 0.00011
NM_004560.4(ROR2):c.2586C>T (p.His862=) rs56158629 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 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_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_025074.7(FRAS1):c.2070C>T (p.Ile690=) rs531800217 0.00011
NM_025074.7(FRAS1):c.783C>T (p.Cys261=) rs374802344 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_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) rs372336857 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 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_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00010
NM_002335.4(LRP5):c.1016-19A>G rs373782074 0.00010
NM_002335.4(LRP5):c.4349-17C>T rs372086596 0.00010
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_003673.3(TCAP):c.-13A>G rs368175926 0.00010
NM_004525.3(LRP2):c.4045+20T>C rs202173572 0.00010
NM_004560.4(ROR2):c.97+7T>C rs377341845 0.00010
NM_006642.5(SDCCAG8):c.740+14G>A rs373462087 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.2683+7C>T rs768922800 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=) rs779095746 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=) rs200656157 0.00010
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_000091.5(COL4A3):c.4755+18A>G rs553695911 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000782.5(CYP24A1):c.733-9T>C rs895309596 0.00009
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001039141.3(TRIOBP):c.5688-13G>C rs200079756 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001135022.2(ELMOD3):c.269-13C>T rs188058240 0.00009
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=) rs773862719 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=) rs552314114 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=) rs145734697 0.00009
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113 0.00009
NM_002335.4(LRP5):c.1412+12G>A rs189423416 0.00009
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=) rs749656764 0.00009
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_004525.3(LRP2):c.12989-10C>T rs186870588 0.00009
NM_004525.3(LRP2):c.3191-17G>A rs763192172 0.00009
NM_004525.3(LRP2):c.4294+20G>A rs377152498 0.00009
NM_004525.3(LRP2):c.4755C>T (p.Asp1585=) rs141871628 0.00009
NM_004525.3(LRP2):c.7878G>A (p.Gln2626=) rs199593393 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 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_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024580.6(EFL1):c.1398A>G (p.Gln466=) rs374308281 0.00009
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852 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_025074.7(FRAS1):c.10540+15G>A rs766110910 0.00009
NM_025074.7(FRAS1):c.1716C>T (p.Ser572=) rs756854613 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 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_173551.5(ANKS6):c.354G>A (p.Ala118=) rs980440912 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_178170.3(NEK8):c.889+17C>T rs577084302 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001278293.3(ARL6):c.350-7C>T rs375454860 0.00008
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151 0.00008
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_004525.3(LRP2):c.10413C>T (p.Thr3471=) rs781066641 0.00008
NM_004525.3(LRP2):c.13519-18T>C rs1031924195 0.00008
NM_004525.3(LRP2):c.3333C>T (p.Asp1111=) rs372322747 0.00008
NM_004525.3(LRP2):c.909C>T (p.Thr303=) rs375394006 0.00008
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=) rs371631049 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_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_133261.3(GIPC3):c.57G>T (p.Ala19=) rs754337950 0.00008
NM_144596.4(TTC8):c.1347+18G>A rs368504643 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_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=) rs146980948 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000067.3(CA2):c.607C>A (p.Leu203Met) rs548376992 0.00007
NM_000067.3(CA2):c.618G>A (p.Val206=) rs369700367 0.00007
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=) rs750401163 0.00007
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=) rs370383308 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000281.4(PCBD1):c.27C>T (p.Ser9=) rs547375927 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000426.4(LAMA2):c.711C>T (p.Ser237=) rs369745832 0.00007
NM_000543.5(SMPD1):c.174G>A (p.Pro58=) rs368143181 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=) rs145984939 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) rs151191933 0.00007
NM_002335.4(LRP5):c.1585-10C>T rs200827533 0.00007
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) rs770762272 0.00007
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) rs369150056 0.00007
NM_004560.4(ROR2):c.485A>G (p.His162Arg) rs569718323 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 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_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 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_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 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_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 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_025074.7(FRAS1):c.8064C>T (p.Ser2688=) rs371145937 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_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) rs141811441 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_000067.3(CA2):c.444+18T>G rs544980486 0.00006
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=) rs376448360 0.00006
NM_000092.5(COL4A4):c.543C>T (p.Ala181=) rs777358824 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000372.5(TYR):c.48C>T (p.Ser16=) rs148710429 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000426.4(LAMA2):c.5072-9C>A rs770904109 0.00006
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 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_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001171.6(ABCC6):c.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 0.00006
NM_001195305.3(BBIP1):c.168A>G (p.Leu56=) rs990110859 0.00006
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=) rs1057521273 0.00006
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00006
NM_001267550.2(TTN):c.27050-6G>A rs765624428 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=) rs768730046 0.00006
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=) rs769856570 0.00006
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817 0.00006
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=) rs565248215 0.00006
NM_001692.4(ATP6V1B1):c.585+7C>G rs369075264 0.00006
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584 0.00006
NM_002292.4(LAMB2):c.1890+19A>C rs763388406 0.00006
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=) rs770830943 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_004525.3(LRP2):c.10314A>G (p.Gly3438=) rs368626587 0.00006
NM_004525.3(LRP2):c.13728+12C>T rs368463648 0.00006
NM_004525.3(LRP2):c.2886G>C (p.Ser962=) rs138299719 0.00006
NM_004525.3(LRP2):c.3123T>C (p.Asn1041=) rs1028631475 0.00006
NM_004525.3(LRP2):c.4524C>T (p.Ile1508=) rs376111498 0.00006
NM_004560.4(ROR2):c.1863G>A (p.Val621=) rs778321761 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254 0.00006
NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp) rs777805288 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 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_013335.4(GMPPA):c.300C>T (p.Asp100=) rs779526489 0.00006
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_014956.5(CEP164):c.2067-15A>G rs767292266 0.00006
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 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_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=) rs766593230 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 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_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=) rs755312698 0.00005
NM_000091.5(COL4A3):c.325-20G>A rs760968700 0.00005
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=) rs200849651 0.00005
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=) rs375189390 0.00005
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn) rs553520141 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.60221-19T>C rs533551256 0.00005
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=) rs1037997977 0.00005
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=) rs770986542 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_002335.4(LRP5):c.4489-6C>T rs377737536 0.00005
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=) rs752602099 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_004525.3(LRP2):c.1043-19T>C rs374755698 0.00005
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 0.00005
NM_004525.3(LRP2):c.9312C>T (p.Ser3104=) rs538919316 0.00005
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=) rs149558767 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) rs1052744793 0.00005
NM_004937.3(CTNS):c.225+19C>T rs550960394 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 0.00005
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00005
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 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.3701+14G>A rs370009233 0.00005
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 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_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 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_173551.5(ANKS6):c.1947C>T (p.His649=) rs372845968 0.00005
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_000091.5(COL4A3):c.1115-12A>G rs761088575 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.3211-13G>C rs200555661 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.988-6C>T rs762463604 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=) rs773270107 0.00004
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=) rs780182097 0.00004
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) rs770874403 0.00004
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 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.3329-20A>G rs1004117268 0.00004
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001267550.2(TTN):c.39818-9T>C rs368834130 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=) rs747557917 0.00004
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=) rs762414876 0.00004
NM_001267550.2(TTN):c.6489C>T (p.His2163=) rs762045402 0.00004
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=) rs368525666 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 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.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001379286.1(ZNF423):c.40+33082T>A rs556089941 0.00004
NM_001384474.1(LOXHD1):c.1432-9T>C rs1197933940 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=) rs754393937 0.00004
NM_002335.4(LRP5):c.1563C>T (p.Asp521=) rs750457614 0.00004
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=) rs146792434 0.00004
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=) rs147175387 0.00004
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=) rs144115017 0.00004
NM_002335.4(LRP5):c.489-7G>A rs560234502 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002335.4(LRP5):c.924C>T (p.His308=) rs756215440 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004525.3(LRP2):c.10572-13G>A rs372963344 0.00004
NM_004525.3(LRP2):c.11635+17C>T rs199625884 0.00004
NM_004525.3(LRP2):c.11850C>T (p.Ala3950=) rs765289317 0.00004
NM_004525.3(LRP2):c.13268-14A>G rs199622240 0.00004
NM_004525.3(LRP2):c.13305C>T (p.Val4435=) rs375801132 0.00004
NM_004525.3(LRP2):c.3312C>T (p.His1104=) rs188152163 0.00004
NM_004525.3(LRP2):c.378G>A (p.Arg126=) rs753521481 0.00004
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) rs773389306 0.00004
NM_004560.4(ROR2):c.2724C>T (p.Thr908=) rs374824850 0.00004
NM_004560.4(ROR2):c.888C>T (p.Asp296=) rs755825636 0.00004
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=) rs376595842 0.00004
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=) rs757760327 0.00004
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536 0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=) rs771450572 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 0.00004
NM_005687.5(FARSB):c.1618+17G>A rs369727146 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 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_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 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.2379G>A (p.Gln793=) rs190692742 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.4287-11C>T rs199682751 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.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_020921.4(NIN):c.5138T>C (p.Leu1713Pro) rs558920997 0.00004
NM_024649.5(BBS1):c.1474-14C>T rs369972079 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 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_025074.7(FRAS1):c.7431G>A (p.Ala2477=) rs750729569 0.00004
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=) rs113839220 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 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_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 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_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_000091.5(COL4A3):c.2489-9C>T rs749574789 0.00003
NM_000091.5(COL4A3):c.714G>A (p.Pro238=) rs555225084 0.00003
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000281.4(PCBD1):c.228G>A (p.Thr76=) rs778445183 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 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.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=) rs570991398 0.00003
NM_001267550.2(TTN):c.39895+16del rs761838184 0.00003
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.57848-4G>A rs369462016 0.00003
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=) rs774023506 0.00003
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00003
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041 0.00003
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246 0.00003
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=) rs373952285 0.00003
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=) rs371257983 0.00003
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) rs753340192 0.00003
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=) rs367555198 0.00003
NM_002335.4(LRP5):c.4112-18T>C rs549631739 0.00003
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met) rs199871539 0.00003
NM_002335.4(LRP5):c.883+9C>T rs543311335 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004525.3(LRP2):c.2076A>G (p.Thr692=) rs772992405 0.00003
NM_004525.3(LRP2):c.2117-20C>T rs190077478 0.00003
NM_004525.3(LRP2):c.5535C>A (p.Ile1845=) rs772030872 0.00003
NM_004525.3(LRP2):c.6281-7C>A rs200673871 0.00003
NM_004525.3(LRP2):c.8578+19C>T rs184250625 0.00003
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) rs200396791 0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=) rs533147998 0.00003
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.882C>T (p.His294=) rs571928866 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_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003
NM_014956.5(CEP164):c.1233+9G>A rs1042105817 0.00003
NM_014956.5(CEP164):c.390G>A (p.Ser130=) rs773045906 0.00003
NM_015102.5(NPHP4):c.2280C>T (p.Ile760=) rs1013943590 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 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.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 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_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00003
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_133261.3(GIPC3):c.915C>T (p.Gly305=) rs142749099 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=) rs756110261 0.00003
NM_173551.5(ANKS6):c.2395-7T>C rs775510768 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 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.528T>A (p.Pro176=) rs757308943 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=) rs748004604 0.00002
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=) rs751356130 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000092.5(COL4A4):c.1987+8T>A rs780277266 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000277.3(PAH):c.441+15C>T rs187133779 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=) rs367879956 0.00002
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001267550.2(TTN):c.1332C>T (p.Ser444=) rs759520186 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.36281-13A>T rs751095834 0.00002
NM_001267550.2(TTN):c.36532+13G>A rs758624046 0.00002
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=) rs376851369 0.00002
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=) rs368972275 0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=) rs753118050 0.00002
NM_001267550.2(TTN):c.63793+9del rs771033923 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=) rs1211159517 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.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=) rs761902133 0.00002
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=) rs1222275039 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=) rs1328459312 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=) rs781880491 0.00002
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=) rs1045132687 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_002335.4(LRP5):c.1801+9G>A rs747941034 0.00002
NM_002335.4(LRP5):c.1923C>T (p.Ile641=) rs17848264 0.00002
NM_002335.4(LRP5):c.2022C>T (p.Val674=) rs748257457 0.00002
NM_002335.4(LRP5):c.3606T>C (p.His1202=) rs779308864 0.00002
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=) rs1036528598 0.00002
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) rs17848257 0.00002
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=) rs777923928 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_003673.4(TCAP):c.267G>A (p.Leu89=) rs1419129039 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=) rs370876114 0.00002
NM_004525.3(LRP2):c.427+18C>T rs775148958 0.00002
NM_004525.3(LRP2):c.8831-16C>T rs775327679 0.00002
NM_004525.3(LRP2):c.9876T>C (p.Asp3292=) rs749452281 0.00002
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) rs145213893 0.00002
NM_004560.4(ROR2):c.954C>T (p.Asn318=) rs553026289 0.00002
NM_004836.7(EIF2AK3):c.633+15T>C rs776777727 0.00002
NM_004937.3(CTNS):c.61+20G>A rs760019018 0.00002
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 0.00002
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=) rs753246840 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015910.7(WDPCP):c.634-12T>A rs779141559 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_022098.4(XPNPEP3):c.970-4C>T rs752602313 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 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.861A>G (p.Gln287=) rs753223078 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) rs775694534 0.00002
NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=) rs376083444 0.00002
NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=) rs774103279 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 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.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 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_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 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.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00002
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00001
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=) rs749945759 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=) rs776512229 0.00001
NM_000091.5(COL4A3):c.2489-5C>T rs1351916467 0.00001
NM_000091.5(COL4A3):c.3337+15T>C rs1230244758 0.00001
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=) rs754567461 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=) rs1309123639 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000091.5(COL4A3):c.4851T>C (p.His1617=) rs74379096 0.00001
NM_000091.5(COL4A3):c.933+9T>C rs752703682 0.00001
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000271.5(NPC1):c.30C>T (p.Leu10=) rs1432179735 0.00001
NM_000287.4(PEX6):c.2854C>T (p.Leu952=) rs767430981 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) rs552050976 0.00001
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 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.771+78G>A rs762350912 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=) rs767511014 0.00001
NM_001267550.2(TTN):c.11085C>T (p.His3695=) rs774236128 0.00001
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=) rs1278975928 0.00001
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=) rs912253842 0.00001
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=) rs991259759 0.00001
NM_001267550.2(TTN):c.19426+7A>G rs756760290 0.00001
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=) rs370099448 0.00001
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=) rs772386098 0.00001
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=) rs878990074 0.00001
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=) rs1015963344 0.00001
NM_001267550.2(TTN):c.34787-16C>T rs191530616 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.40408+20A>G rs750616546 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=) rs763809932 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=) rs367880653 0.00001
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=) rs370123011 0.00001
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=) rs564938876 0.00001
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=) rs767101518 0.00001
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=) rs372153745 0.00001
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=) rs757873540 0.00001
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=) rs748689777 0.00001
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) rs557737090 0.00001
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=) rs746325775 0.00001
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=) rs1359929309 0.00001
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=) rs768927616 0.00001
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=) rs768594716 0.00001
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=) rs1317447790 0.00001
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=) rs879159807 0.00001
NM_001278293.3(ARL6):c.432T>A (p.Ser144=) rs1324293417 0.00001
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=) rs769083768 0.00001
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=) rs760421159 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 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.4230G>A (p.Ala1410=) rs546247768 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.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=) rs1383333428 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=) rs766179893 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=) rs1258151977 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=) rs782782168 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=) rs1471681639 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=) rs765736533 0.00001
NM_002292.4(LAMB2):c.1329T>C (p.His443=) rs1131787 0.00001
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=) rs922993666 0.00001
NM_002292.4(LAMB2):c.1519-5T>C rs1242908578 0.00001
NM_002292.4(LAMB2):c.252C>T (p.Asp84=) rs750432118 0.00001
NM_002292.4(LAMB2):c.3798-17C>G rs777266280 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242 0.00001
NM_002335.4(LRP5):c.1016-10G>A rs1271777311 0.00001
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) rs199707305 0.00001
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) rs1022762292 0.00001
NM_002335.4(LRP5):c.2625C>T (p.Ser875=) rs999634205 0.00001
NM_002335.4(LRP5):c.2688C>T (p.His896=) rs1395883769 0.00001
NM_002335.4(LRP5):c.2828-15C>T rs951283192 0.00001
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=) rs141306017 0.00001
NM_002335.4(LRP5):c.4000+15G>A rs563578294 0.00001
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=) rs759659671 0.00001
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=) rs780535389 0.00001
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=) rs139701701 0.00001
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002693.3(POLG):c.1023+17G>A rs778750911 0.00001
NM_002693.3(POLG):c.30C>T (p.Ala10=) rs1060504037 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_004525.3(LRP2):c.1042+20G>A rs533964308 0.00001
NM_004525.3(LRP2):c.11451C>T (p.Cys3817=) rs745376364 0.00001
NM_004525.3(LRP2):c.12330T>A (p.Ser4110=) rs751512062 0.00001
NM_004525.3(LRP2):c.13363T>C (p.Leu4455=) rs748926618 0.00001
NM_004525.3(LRP2):c.13410C>T (p.Pro4470=) rs1419052115 0.00001
NM_004525.3(LRP2):c.1827A>G (p.Leu609=) rs186137585 0.00001
NM_004525.3(LRP2):c.3430+10G>A rs375941769 0.00001
NM_004525.3(LRP2):c.3501C>T (p.Val1167=) rs764906118 0.00001
NM_004525.3(LRP2):c.7515C>T (p.Arg2505=) rs773316402 0.00001
NM_004525.3(LRP2):c.80-10A>G rs769089398 0.00001
NM_004525.3(LRP2):c.876C>T (p.Cys292=) rs201503356 0.00001
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=) rs1486598660 0.00001
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) rs769352677 0.00001
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) rs753150455 0.00001
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) rs138199678 0.00001
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) rs549674310 0.00001
NM_004937.3(CTNS):c.729C>T (p.Leu243=) rs762142619 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 0.00001
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 0.00001
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=) rs757292520 0.00001
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=) rs754838222 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_014264.5(PLK4):c.609A>G (p.Thr203=) rs564323488 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014956.5(CEP164):c.1143C>T (p.Asp381=) rs375647094 0.00001
NM_014956.5(CEP164):c.2268A>G (p.Glu756=) rs750395570 0.00001
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_014956.5(CEP164):c.3279-12C>T rs749577674 0.00001
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=) rs371592315 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_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2796G>A (p.Glu932=) rs566830176 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 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.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015910.7(WDPCP):c.161-14C>T rs755586280 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 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.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 0.00001
NM_016356.5(DCDC2):c.923-18G>A rs768651764 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 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.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=) rs1336755113 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=) rs769192947 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 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.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 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.42C>T (p.Gly14=) rs531575276 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_032856.5(WDR73):c.816T>C (p.Pro272=) rs374742538 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_152618.3(BBS12):c.1884C>T (p.Asp628=) rs1463043869 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.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 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.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 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_173551.5(ANKS6):c.2487G>A (p.Ala829=) rs758679399 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.2136C>T (p.Phe712=) rs199782217 0.00001
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) rs751987503 0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) rs201321032 0.00001
NM_178170.3(NEK8):c.2010C>T (p.Ser670=) rs566162608 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2375-18T>C rs1449018778
NM_000091.5(COL4A3):c.2746+9T>C rs367574148
NM_000091.5(COL4A3):c.280-10_280-9del rs768505729
NM_000091.5(COL4A3):c.3211-7A>G rs2106226162
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.384T>C (p.Ser128=) rs2125910138
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del) rs570469692
NM_000091.5(COL4A3):c.766-7T>C rs777532605
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000271.5(NPC1):c.1947+13G>C rs568769965
NM_000329.3(RPE65):c.1450+13A>C rs371783875
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000372.5(TYR):c.1036+13T>A rs1377064834
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000899.5(KITLG):c.130-11dup rs11428619
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile) rs1555771695
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) rs1047044671
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
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.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001206999.2(CIT):c.2532-6del rs34851548
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.107681-18dup rs148707308
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=) rs547338168
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=) rs1221916366
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=) rs1553913320
NM_001267550.2(TTN):c.2226C>T (p.Ser742=) rs151025677
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=) rs369089044
NM_001267550.2(TTN):c.27429T>C (p.Val9143=) rs753291492
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-4_30683-3del rs368277751
NM_001267550.2(TTN):c.33418+11del rs779637808
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.34787-19del rs749050618
NM_001267550.2(TTN):c.35025G>A (p.Val11675=) rs1047010138
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=) rs773862719
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.40057+10A>G rs1576917346
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=) rs747163190
NM_001267550.2(TTN):c.4814+9G>C rs768137657
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=) rs778528252
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=) rs755233818
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=) rs1553626322
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=) rs2047769242
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=) rs757244505
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=) rs768458635
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=) rs1218286270
NM_001267550.2(TTN):c.91271-20C>A rs1461887959
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=) rs1489398531
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=) rs771653811
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=) rs148926588
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=) rs114187147
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=) rs572061351
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=) rs781553869
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg) rs386794006
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=) rs1357578376
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=) rs1430075527
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.12115-8dup rs748193431
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=) rs2103774306
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=) rs766133181
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=) rs2103675459
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=) rs1671901472
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=) rs755418143
NM_001378454.1(ALMS1):c.765-15_765-12del rs1432858141
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=) rs1041301597
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=) rs2103891896
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=) rs541511993
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup rs373720521
NM_001384474.1(LOXHD1):c.6050-7A>G rs907689730
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944
NM_002292.4(LAMB2):c.1519-6G>A rs755545118
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=) rs760427008
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.762G>A (p.Thr254=) rs201406827
NM_002335.4(LRP5):c.1015+19_1015+23del rs761661947
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.1887C>T (p.Ile629=) rs140958524
NM_002335.4(LRP5):c.201A>C (p.Ala67=) rs540291726
NM_002335.4(LRP5):c.2334C>T (p.Thr778=) rs753035383
NM_002335.4(LRP5):c.2504-16GT[3] rs531798381
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) rs772416019
NM_002335.4(LRP5):c.3638-19T>C rs1591317491
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.3274-8C>T rs1184674847
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del) rs3832799
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004525.3(LRP2):c.10155C>T (p.His3385=) rs765266983
NM_004525.3(LRP2):c.1186A>G (p.Ile396Val) rs527397264
NM_004525.3(LRP2):c.11985C>T (p.Phe3995=) rs138867955
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=) rs143254052
NM_004525.3(LRP2):c.13137C>G (p.Pro4379=) rs140160600
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=) rs780040199
NM_004525.3(LRP2):c.13519-40CT[7] rs138614485
NM_004525.3(LRP2):c.13519-40CT[8] rs138614485
NM_004525.3(LRP2):c.13519-40CT[9] rs138614485
NM_004525.3(LRP2):c.13620+16G>A rs2105334637
NM_004525.3(LRP2):c.13830T>G (p.Ala4610=) rs2105322142
NM_004525.3(LRP2):c.1593C>T (p.Ser531=) rs148996947
NM_004525.3(LRP2):c.1975+19G>A rs2105443566
NM_004525.3(LRP2):c.246C>T (p.Pro82=) rs1684836154
NM_004525.3(LRP2):c.428-14_428-8del rs370823033
NM_004525.3(LRP2):c.428-18_428-8del rs370823033
NM_004525.3(LRP2):c.538+19A>T rs2105472858
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.652+14T>A rs116358988
NM_004525.3(LRP2):c.652+14T>G rs116358988
NM_004525.3(LRP2):c.770-5C>A rs180797349
NM_004525.3(LRP2):c.7716-13del rs754348745
NM_004525.3(LRP2):c.7716-13dup rs754348745
NM_004525.3(LRP2):c.80-14_80-11del rs777197536
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004525.3(LRP2):c.923-19del rs535311793
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) rs200675570
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) rs185808139
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) rs1674997611
NM_004937.3(CTNS):c.141-8C>T rs768912772
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005548.3(KARS1):c.223-8_223-6del rs370077957
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=) rs143407309
NM_006907.4(PYCR1):c.67+10del rs779525010
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_012210.4(TRIM32):c.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.939G>T (p.Ala313=) rs375442860
NM_014363.6(SACS):c.21-162C>G rs578105700
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del) rs145749994
NM_014956.5(CEP164):c.1153-15G>T rs372749388
NM_014956.5(CEP164):c.1233+18del rs2135973306
NM_014956.5(CEP164):c.1362C>T (p.Ser454=) rs1163809267
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1608T>C (p.Cys536=) rs750310170
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.333G>A (p.Lys111=) rs568554283
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=) rs1457505922
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.552+14C>G rs754626177
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_014956.5(CEP164):c.765+8C>T rs2041253275
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.674-10A>G rs1031299307
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) rs2106073376
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
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.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015910.7(WDPCP):c.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.633+17A>T rs373456348
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_018669.6(WDR4):c.33G>A (p.Gly11=) rs138295040
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) rs780903069
NM_020347.4(LZTFL1):c.128+13del rs750701550
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473
NM_020751.3(COG6):c.*315del rs142947196
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp) rs142005939
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=) rs6697820
NM_024298.5(MBOAT7):c.-1587C>G rs145947907
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
NM_024649.5(BBS1):c.830+12del rs1343720111
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.4969+19A>T rs73831318
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup) rs761087054
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_133261.3(GIPC3):c.706-3dup rs200925508
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
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_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.907+8C>G rs775680028
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_178170.3(NEK8):c.1071+13G>C rs775567721
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_182961.4(SYNE1):c.3837+9G>A rs756594812
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.2115+17dup rs1826376756
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.702+15dup rs756949696
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034
NR_003051.3(RMRP):n.-24A>G rs529852688

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