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
|
|