NM_001232.4(CASQ2):c.*632G>C
|
rs1140238
|
0.65651
|
NM_001232.4(CASQ2):c.*482C>T
|
rs7521023
|
0.63558
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_138959.3(VANGL1):c.*1183del
|
rs3841008
|
0.25316
|
NM_001232.4(CASQ2):c.*1123_*1124del
|
rs56839330
|
0.23414
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_001232.4(CASQ2):c.*138T>C
|
rs28730710
|
0.10658
|
NM_025265.4(TSEN2):c.-391G>A
|
rs3806662
|
0.09194
|
NM_016955.4(SEPSECS):c.*455C>T
|
rs73252520
|
0.08857
|
NM_016955.4(SEPSECS):c.*2694A>G
|
rs956925
|
0.07936
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)
|
rs28730711
|
0.04871
|
NM_178161.3(PTF1A):c.*190C>T
|
rs74121767
|
0.04559
|
NM_024075.4(TSEN34):c.*1177G>T
|
rs78711269
|
0.03779
|
NM_006416.5(SLC35A1):c.*147C>T
|
rs55960393
|
0.03465
|
NM_153240.5(NPHP3):c.*266G>A
|
rs11708200
|
0.03396
|
NM_020320.5(RARS2):c.535+60T>C
|
rs35056836
|
0.03193
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_207346.2(TSEN54):c.*331T>A
|
rs150621720
|
0.02560
|
NM_153240.5(NPHP3):c.*785G>A
|
rs6774366
|
0.02518
|
NM_024075.4(TSEN34):c.*1176A>T
|
rs78793520
|
0.02245
|
NM_001232.4(CASQ2):c.1014+9C>T
|
rs77775029
|
0.02121
|
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
NM_016955.4(SEPSECS):c.*638G>C
|
rs10004441
|
0.01839
|
NM_016955.4(SEPSECS):c.*2209A>G
|
rs9998044
|
0.01837
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)
|
rs76245173
|
0.01809
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_138959.3(VANGL1):c.*3544C>T
|
rs74117023
|
0.01618
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_138959.3(VANGL1):c.*3336G>A
|
rs61732170
|
0.01470
|
NM_006416.5(SLC35A1):c.*240G>T
|
rs9450722
|
0.01462
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_016955.4(SEPSECS):c.*1041T>C
|
rs114420733
|
0.01027
|
NM_016955.4(SEPSECS):c.*371_*372del
|
rs143987218
|
0.01024
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_138959.3(VANGL1):c.-239G>A
|
rs563855412
|
0.00806
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
NM_138959.3(VANGL1):c.*1652C>T
|
rs146512242
|
0.00738
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_018027.5(FRMD4A):c.705G>A (p.Leu235=)
|
rs61755072
|
0.00698
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_025077.4(TOE1):c.1176G>A (p.Leu392=)
|
rs149142910
|
0.00664
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_021926.4(ALX4):c.*290T>C
|
rs7128671
|
0.00637
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)
|
rs147497968
|
0.00623
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
NM_025129.5(FUZ):c.405C>T (p.Ile135=)
|
rs35499921
|
0.00594
|
NM_018082.6(POLR3B):c.1958A>T (p.Asp653Val)
|
rs144161033
|
0.00581
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_024075.5(TSEN34):c.-5+15G>A
|
rs141003293
|
0.00497
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_018082.6(POLR3B):c.975A>G (p.Glu325=)
|
rs145542203
|
0.00487
|
NM_138959.3(VANGL1):c.*5444C>G
|
rs142497673
|
0.00486
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
NM_004958.4(MTOR):c.2649+9C>T
|
rs144243347
|
0.00459
|
NM_003384.2(VRK1):c.-110C>T
|
rs77630815
|
0.00455
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_138959.3(VANGL1):c.435T>C (p.Cys145=)
|
rs34768472
|
0.00443
|
NM_138959.3(VANGL1):c.*3653C>T
|
rs146435279
|
0.00442
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001077446.4(TSEN34):c.*1053G>A
|
rs182704571
|
0.00428
|
NM_138959.3(VANGL1):c.*2865A>G
|
rs114921471
|
0.00424
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_001044385.3(TMEM237):c.*2137A>G
|
rs115353606
|
0.00418
|
NM_001044385.3(TMEM237):c.*2349C>T
|
rs74884418
|
0.00418
|
NM_001044385.3(TMEM237):c.*3372C>T
|
rs192214909
|
0.00418
|
NM_001044385.3(TMEM237):c.*1107C>T
|
rs143516209
|
0.00417
|
NM_001044385.3(TMEM237):c.*1975C>G
|
rs142233268
|
0.00417
|
NM_001044385.3(TMEM237):c.*2719G>A
|
rs142852956
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_138959.3(VANGL1):c.345C>T (p.Val115=)
|
rs79828493
|
0.00413
|
NM_033026.6(PCLO):c.10146T>G (p.Thr3382=)
|
rs111241048
|
0.00406
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_024075.5(TSEN34):c.-95A>G
|
rs115290127
|
0.00390
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561
|
0.00385
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_000548.5(TSC2):c.1443+18C>T
|
rs375947241
|
0.00379
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00379
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_025265.4(TSEN2):c.272-4C>G
|
rs41293385
|
0.00369
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=)
|
rs41275546
|
0.00358
|
NM_025265.4(TSEN2):c.-20G>A
|
rs9871742
|
0.00345
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_018082.6(POLR3B):c.2136A>G (p.Leu712=)
|
rs139146614
|
0.00324
|
NM_207346.3(TSEN54):c.*169T>C
|
rs111972085
|
0.00317
|
NM_001368809.2(AMPD2):c.1407+3A>G
|
rs41280332
|
0.00312
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_016955.4(SEPSECS):c.*3402A>G
|
rs149506792
|
0.00300
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=)
|
rs12024960
|
0.00284
|
NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys)
|
rs148751644
|
0.00282
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_025265.4(TSEN2):c.-173C>T
|
rs76012118
|
0.00250
|
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile)
|
rs77828651
|
0.00249
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)
|
rs150026441
|
0.00235
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)
|
rs146510084
|
0.00224
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_020320.5(RARS2):c.1410C>A (p.Leu470=)
|
rs139564081
|
0.00223
|
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)
|
rs149059377
|
0.00223
|
NM_001519.4(BRF1):c.549G>A (p.Pro183=)
|
rs144658695
|
0.00221
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_001232.4(CASQ2):c.*143G>A
|
rs28730709
|
0.00217
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_153240.5(NPHP3):c.2693+17A>G
|
rs200046908
|
0.00212
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_021926.4(ALX4):c.*2349C>A
|
rs139570599
|
0.00210
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_005559.4(LAMA1):c.5481A>G (p.Val1827=)
|
rs138711280
|
0.00201
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_138959.3(VANGL1):c.*1772A>G
|
rs114033235
|
0.00199
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_018082.6(POLR3B):c.1401T>A (p.Gly467=)
|
rs74390456
|
0.00195
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)
|
rs114624650
|
0.00189
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn)
|
rs142298615
|
0.00181
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
NM_005559.4(LAMA1):c.4554C>T (p.His1518=)
|
rs145068849
|
0.00176
|
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=)
|
rs145215555
|
0.00174
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)
|
rs35337955
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg)
|
rs141673853
|
0.00154
|
NM_138959.3(VANGL1):c.*383C>G
|
rs75277108
|
0.00153
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=)
|
rs145257845
|
0.00144
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)
|
rs147070468
|
0.00134
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys)
|
rs145569979
|
0.00127
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
|
rs112386774
|
0.00121
|
NM_153240.5(NPHP3):c.3570+9G>T
|
rs112749193
|
0.00121
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_021926.4(ALX4):c.*899C>T
|
rs543627488
|
0.00113
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001384732.1(CPLANE1):c.8374-15G>A
|
rs74881219
|
0.00111
|
NM_178161.3(PTF1A):c.162C>T (p.Ser54=)
|
rs117678424
|
0.00110
|
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)
|
rs370163562
|
0.00109
|
NM_021926.4(ALX4):c.*3805G>A
|
rs373307279
|
0.00108
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_005027.4(PIK3R2):c.696G>A (p.Val232=)
|
rs571661207
|
0.00101
|
NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=)
|
rs150951157
|
0.00101
|
NM_014846.4(WASHC5):c.2199+5C>G
|
rs149763012
|
0.00100
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val)
|
rs369404481
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)
|
rs114457076
|
0.00091
|
NM_025265.4(TSEN2):c.405G>A (p.Pro135=)
|
rs140728375
|
0.00090
|
NM_001368809.2(AMPD2):c.1699-11T>C
|
rs188035528
|
0.00087
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)
|
rs117911920
|
0.00081
|
NM_002601.4(PDE6D):c.140-3C>T
|
rs368073853
|
0.00079
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)
|
rs151163650
|
0.00076
|
NM_018082.6(POLR3B):c.1464+14G>A
|
rs200061150
|
0.00076
|
NM_001759.4(CCND2):c.756G>A (p.Ala252=)
|
rs145050894
|
0.00074
|
NM_014846.4(WASHC5):c.3181+4C>T
|
rs372154199
|
0.00073
|
NM_015631.6(TCTN3):c.1764C>T (p.Val588=)
|
rs137856303
|
0.00071
|
NM_033026.6(PCLO):c.13495A>G (p.Ile4499Val)
|
rs182078347
|
0.00071
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00070
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)
|
rs141249409
|
0.00070
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=)
|
rs144543830
|
0.00065
|
NM_021926.4(ALX4):c.1035C>T (p.Ser345=)
|
rs140652481
|
0.00064
|
NM_015631.6(TCTN3):c.280T>C (p.Leu94=)
|
rs367982164
|
0.00062
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
NM_138959.3(VANGL1):c.*2187T>C
|
rs146730302
|
0.00061
|
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)
|
rs200683263
|
0.00061
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=)
|
rs201505782
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)
|
rs147990742
|
0.00055
|
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val)
|
rs142907217
|
0.00053
|
NM_021926.4(ALX4):c.917C>T (p.Pro306Leu)
|
rs149897209
|
0.00052
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=)
|
rs139217835
|
0.00048
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)
|
rs143163487
|
0.00045
|
NM_001082486.2(ACD):c.645+17G>A
|
rs148412951
|
0.00044
|
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=)
|
rs546670307
|
0.00043
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=)
|
rs144640614
|
0.00042
|
NM_153240.5(NPHP3):c.393+18C>T
|
rs367765709
|
0.00042
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)
|
rs370010097
|
0.00041
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=)
|
rs201900751
|
0.00041
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
NM_001368809.2(AMPD2):c.1081-8C>A
|
rs145268448
|
0.00039
|
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser)
|
rs146393749
|
0.00039
|
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)
|
rs150579201
|
0.00039
|
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=)
|
rs200330629
|
0.00039
|
NM_138959.3(VANGL1):c.*47G>T
|
rs190792695
|
0.00039
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=)
|
rs772272053
|
0.00037
|
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)
|
rs142403193
|
0.00036
|
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)
|
rs201235386
|
0.00035
|
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=)
|
rs137899908
|
0.00035
|
NM_001368809.2(AMPD2):c.1699-12G>T
|
rs372637186
|
0.00034
|
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=)
|
rs141818976
|
0.00034
|
NM_002601.4(PDE6D):c.258C>T (p.Cys86=)
|
rs151191604
|
0.00034
|
NM_005465.7(AKT3):c.1163+17G>A
|
rs367951410
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_001368809.2(AMPD2):c.1080+15C>T
|
rs183445342
|
0.00033
|
NM_006218.4(PIK3CA):c.2015+9A>G
|
rs200768351
|
0.00032
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=)
|
rs147146700
|
0.00031
|
NM_001384732.1(CPLANE1):c.3150-12A>G
|
rs755478099
|
0.00031
|
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)
|
rs150999024
|
0.00031
|
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=)
|
rs34474203
|
0.00031
|
NM_021926.4(ALX4):c.1182G>A (p.Ala394=)
|
rs149365713
|
0.00031
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
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_001134831.2(AHI1):c.1270A>G (p.Ile424Val)
|
rs562905902
|
0.00029
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=)
|
rs551874555
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr)
|
rs767933385
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)
|
rs138586360
|
0.00024
|
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)
|
rs371970036
|
0.00024
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_005027.4(PIK3R2):c.1559+12G>A
|
rs142415492
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_016464.5(TMEM138):c.128+7G>T
|
rs560650147
|
0.00023
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_001384732.1(CPLANE1):c.9579+7A>G
|
rs369166609
|
0.00022
|
NM_015631.6(TCTN3):c.1096-14C>A
|
rs41291568
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_020320.5(RARS2):c.1512-6T>C
|
rs185924037
|
0.00022
|
NM_000368.5(TSC1):c.1677C>T (p.Cys559=)
|
rs368317116
|
0.00021
|
NM_001134831.2(AHI1):c.136-8C>T
|
rs370834009
|
0.00021
|
NM_001384732.1(CPLANE1):c.5820+8A>G
|
rs181096718
|
0.00021
|
NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu)
|
rs199683047
|
0.00021
|
NM_014846.4(WASHC5):c.2017-13T>C
|
rs74458977
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_000548.5(TSC2):c.1443+15G>A
|
rs182743311
|
0.00020
|
NM_001368809.2(AMPD2):c.2268+10C>T
|
rs368736094
|
0.00020
|
NM_005027.4(PIK3R2):c.902-17G>A
|
rs199796442
|
0.00020
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000548.5(TSC2):c.4662+17G>A
|
rs45443002
|
0.00019
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
NM_001082486.2(ACD):c.1152G>A (p.Pro384=)
|
rs147116458
|
0.00019
|
NM_001384732.1(CPLANE1):c.82-14G>A
|
rs180804052
|
0.00019
|
NM_018082.6(POLR3B):c.1113T>C (p.Leu371=)
|
rs141885523
|
0.00019
|
NM_153240.5(NPHP3):c.3812+16A>G
|
rs376029054
|
0.00019
|
NM_005027.4(PIK3R2):c.816-8C>T
|
rs200494626
|
0.00018
|
NM_020320.5(RARS2):c.6G>A (p.Ala2=)
|
rs371542506
|
0.00018
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)
|
rs778176344
|
0.00017
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_015631.6(TCTN3):c.537T>C (p.Asn179=)
|
rs141346992
|
0.00017
|
NM_016111.4(TELO2):c.2376C>T (p.Asp792=)
|
rs200969710
|
0.00017
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
NM_000548.5(TSC2):c.649-9C>G
|
rs781099543
|
0.00016
|
NM_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
NM_001082486.2(ACD):c.837G>A (p.Pro279=)
|
rs201965477
|
0.00016
|
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=)
|
rs140683735
|
0.00016
|
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=)
|
rs144177097
|
0.00016
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys)
|
rs187640248
|
0.00016
|
NM_014846.4(WASHC5):c.555T>C (p.Asp185=)
|
rs145934920
|
0.00016
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
NM_021926.4(ALX4):c.1149C>T (p.Asn383=)
|
rs376675326
|
0.00016
|
NM_021926.4(ALX4):c.188G>A (p.Arg63Gln)
|
rs372830230
|
0.00016
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_001082486.2(ACD):c.846C>T (p.Pro282=)
|
rs199856965
|
0.00015
|
NM_001134831.2(AHI1):c.3588+15A>T
|
rs370223538
|
0.00015
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_153240.5(NPHP3):c.3126-8T>G
|
rs201592109
|
0.00015
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000548.5(TSC2):c.1947-3C>T
|
rs201106259
|
0.00014
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=)
|
rs1056117590
|
0.00014
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_016955.4(SEPSECS):c.84T>C (p.His28=)
|
rs532571185
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=)
|
rs183344879
|
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_178161.3(PTF1A):c.102C>T (p.Asp34=)
|
rs199831799
|
0.00014
|
NM_000368.5(TSC1):c.2502+18A>C
|
rs200908079
|
0.00013
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=)
|
rs201146203
|
0.00013
|
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=)
|
rs893028434
|
0.00013
|
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=)
|
rs370853734
|
0.00013
|
NM_014846.4(WASHC5):c.405A>G (p.Gly135=)
|
rs529518868
|
0.00013
|
NM_018082.6(POLR3B):c.1707T>C (p.Asn569=)
|
rs17038450
|
0.00013
|
NM_021926.4(ALX4):c.728C>T (p.Ala243Val)
|
rs145166164
|
0.00013
|
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=)
|
rs201015677
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)
|
rs370177269
|
0.00012
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
NM_001384732.1(CPLANE1):c.834+15G>A
|
rs373984590
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr)
|
rs941281903
|
0.00012
|
NM_014846.4(WASHC5):c.187-6T>C
|
rs200227798
|
0.00012
|
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)
|
rs146623998
|
0.00012
|
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=)
|
rs369339497
|
0.00012
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=)
|
rs768137956
|
0.00012
|
NM_015631.6(TCTN3):c.159G>A (p.Ala53=)
|
rs540555381
|
0.00012
|
NM_016464.5(TMEM138):c.414C>T (p.Ala138=)
|
rs151094420
|
0.00012
|
NM_153240.5(NPHP3):c.2883+16C>T
|
rs376492280
|
0.00012
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=)
|
rs374146919
|
0.00011
|
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
|
rs367703283
|
0.00011
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
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_001368809.2(AMPD2):c.27C>A (p.Gly9=)
|
rs141792341
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln)
|
rs374448993
|
0.00011
|
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)
|
rs150430170
|
0.00011
|
NM_014846.4(WASHC5):c.2098-13G>A
|
rs375720047
|
0.00011
|
NM_014846.4(WASHC5):c.552C>T (p.Asp184=)
|
rs140203497
|
0.00011
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
NM_015631.6(TCTN3):c.1452+16T>C
|
rs779934498
|
0.00011
|
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)
|
rs141851191
|
0.00011
|
NM_021926.4(ALX4):c.*563C>T
|
rs574340639
|
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_000368.5(TSC1):c.2423C>T (p.Ala808Val)
|
rs756514375
|
0.00010
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=)
|
rs45455897
|
0.00010
|
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)
|
rs371944986
|
0.00010
|
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=)
|
rs760164880
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly)
|
rs756274300
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
NM_004958.4(MTOR):c.706-18C>A
|
rs778886695
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_015631.6(TCTN3):c.1299-11T>C
|
rs532774999
|
0.00010
|
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=)
|
rs201367852
|
0.00010
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr)
|
rs549685905
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000548.5(TSC2):c.4006-19T>G
|
rs200900825
|
0.00009
|
NM_000548.5(TSC2):c.481+12C>T
|
rs777645015
|
0.00009
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=)
|
rs747442212
|
0.00009
|
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=)
|
rs565485814
|
0.00009
|
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn)
|
rs111848145
|
0.00009
|
NM_005559.4(LAMA1):c.8962C>T (p.Arg2988Cys)
|
rs138692442
|
0.00009
|
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)
|
rs758919422
|
0.00009
|
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=)
|
rs201066199
|
0.00009
|
NM_015631.6(TCTN3):c.576C>T (p.Gly192=)
|
rs143020764
|
0.00009
|
NM_016464.5(TMEM138):c.129-4A>G
|
rs372877379
|
0.00009
|
NM_021926.4(ALX4):c.*407G>A
|
rs539799951
|
0.00009
|
NM_021926.4(ALX4):c.217C>T (p.Leu73=)
|
rs766525768
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg)
|
rs200389969
|
0.00009
|
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)
|
rs146316936
|
0.00009
|
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)
|
rs199682817
|
0.00009
|
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)
|
rs45517188
|
0.00008
|
NM_000548.5(TSC2):c.3815-16C>T
|
rs546810161
|
0.00008
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)
|
rs199980707
|
0.00008
|
NM_002449.5(MSX2):c.379+7G>C
|
rs569601106
|
0.00008
|
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)
|
rs760280114
|
0.00008
|
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=)
|
rs370069674
|
0.00008
|
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=)
|
rs199507509
|
0.00008
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)
|
rs201525586
|
0.00007
|
NM_000548.5(TSC2):c.2220+12G>A
|
rs780039835
|
0.00007
|
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)
|
rs760704956
|
0.00007
|
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=)
|
rs140081676
|
0.00007
|
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=)
|
rs556045045
|
0.00007
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=)
|
rs376535591
|
0.00007
|
NM_005465.7(AKT3):c.165A>G (p.Ser55=)
|
rs369662909
|
0.00007
|
NM_005465.7(AKT3):c.306C>A (p.Ile102=)
|
rs528649886
|
0.00007
|
NM_014846.4(WASHC5):c.1522-10T>A
|
rs200283018
|
0.00007
|
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)
|
rs375214976
|
0.00007
|
NM_014846.4(WASHC5):c.451C>T (p.Leu151=)
|
rs6470336
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
NM_000548.5(TSC2):c.1731C>T (p.Thr577=)
|
rs144122318
|
0.00006
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00006
|
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)
|
rs144891432
|
0.00006
|
NM_000548.5(TSC2):c.482-16G>A
|
rs200647260
|
0.00006
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)
|
rs373818076
|
0.00006
|
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)
|
rs199947989
|
0.00006
|
NM_001044385.3(TMEM237):c.74+15C>T
|
rs375401635
|
0.00006
|
NM_001044385.3(TMEM237):c.79+15T>C
|
rs182250754
|
0.00006
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
0.00006
|
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)
|
rs185249049
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001368809.2(AMPD2):c.2269-9T>G
|
rs778204030
|
0.00006
|
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)
|
rs776483432
|
0.00006
|
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=)
|
rs148286269
|
0.00006
|
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=)
|
rs374320265
|
0.00006
|
NM_001384732.1(CPLANE1):c.938+20T>C
|
rs1391242118
|
0.00006
|
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=)
|
rs200942752
|
0.00006
|
NM_002449.5(MSX2):c.*1206T>C
|
rs77229212
|
0.00006
|
NM_002601.4(PDE6D):c.201G>A (p.Ser67=)
|
rs764377846
|
0.00006
|
NM_002601.4(PDE6D):c.408C>T (p.Asp136=)
|
rs547505745
|
0.00006
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
NM_004958.4(MTOR):c.6810+12G>A
|
rs373052413
|
0.00006
|
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=)
|
rs774532039
|
0.00006
|
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=)
|
rs756868198
|
0.00006
|
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)
|
rs542398089
|
0.00006
|
NM_005465.7(AKT3):c.840C>T (p.Asp280=)
|
rs201347487
|
0.00006
|
NM_014846.4(WASHC5):c.18C>T (p.Ala6=)
|
rs17852424
|
0.00006
|
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=)
|
rs766145087
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
NM_015631.6(TCTN3):c.1096-13C>T
|
rs372991715
|
0.00006
|
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=)
|
rs761227686
|
0.00006
|
NM_016464.5(TMEM138):c.81C>T (p.Phe27=)
|
rs149327827
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu)
|
rs545377358
|
0.00006
|
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=)
|
rs768273057
|
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_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
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_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)
|
rs920286007
|
0.00005
|
NM_000548.5(TSC2):c.1599+9C>T
|
rs776274603
|
0.00005
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
NM_001368809.2(AMPD2):c.72G>A (p.Gln24=)
|
rs143354905
|
0.00005
|
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=)
|
rs773819961
|
0.00005
|
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=)
|
rs372380629
|
0.00005
|
NM_002601.4(PDE6D):c.174A>G (p.Ala58=)
|
rs139835658
|
0.00005
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=)
|
rs748631629
|
0.00005
|
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=)
|
rs756748269
|
0.00005
|
NM_005465.7(AKT3):c.996A>G (p.Leu332=)
|
rs371532988
|
0.00005
|
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)
|
rs202216835
|
0.00005
|
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=)
|
rs769262318
|
0.00005
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
NM_015631.6(TCTN3):c.1452+17A>G
|
rs376162804
|
0.00005
|
NM_015631.6(TCTN3):c.1591-4G>A
|
rs376757601
|
0.00005
|
NM_015631.6(TCTN3):c.888+10T>C
|
rs746513472
|
0.00005
|
NM_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_021926.4(ALX4):c.*196C>T
|
rs189945537
|
0.00005
|
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=)
|
rs199758910
|
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_138959.3(VANGL1):c.*707C>T
|
rs562969850
|
0.00005
|
NM_153240.5(NPHP3):c.3126-4T>A
|
rs746873186
|
0.00005
|
NM_000368.5(TSC1):c.1506C>T (p.Gly502=)
|
rs772337076
|
0.00004
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000368.5(TSC1):c.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)
|
rs757325185
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_000548.5(TSC2):c.2967-6C>T
|
rs200746335
|
0.00004
|
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=)
|
rs373950550
|
0.00004
|
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=)
|
rs779122170
|
0.00004
|
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)
|
rs528080018
|
0.00004
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
0.00004
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
0.00004
|
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
NM_001082486.1(ACD):c.78C>T (p.Ser26=)
|
rs142762905
|
0.00004
|
NM_001082486.1(ACD):c.9C>G (p.Gly3=)
|
rs201685459
|
0.00004
|
NM_001082486.2(ACD):c.1207-8C>T
|
rs201192255
|
0.00004
|
NM_001082486.2(ACD):c.242+7G>A
|
rs368510441
|
0.00004
|
NM_001082486.2(ACD):c.513T>G (p.Leu171=)
|
rs755523137
|
0.00004
|
NM_001082486.2(ACD):c.861C>T (p.Ser287=)
|
rs751515020
|
0.00004
|
NM_001082486.2(ACD):c.876C>T (p.Thr292=)
|
rs372485172
|
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_001368809.2(AMPD2):c.-43G>T
|
rs768664971
|
0.00004
|
NM_001368809.2(AMPD2):c.-94G>T
|
rs1012698060
|
0.00004
|
NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=)
|
rs143970486
|
0.00004
|
NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=)
|
rs777419165
|
0.00004
|
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=)
|
rs781503038
|
0.00004
|
NM_001368809.2(AMPD2):c.222+19C>T
|
rs200880116
|
0.00004
|
NM_001368809.2(AMPD2):c.2269-12C>T
|
rs753510697
|
0.00004
|
NM_001368809.2(AMPD2):c.423-20C>T
|
rs112705694
|
0.00004
|
NM_001368809.2(AMPD2):c.861-11C>T
|
rs368738130
|
0.00004
|
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=)
|
rs772082205
|
0.00004
|
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=)
|
rs769298457
|
0.00004
|
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=)
|
rs561079089
|
0.00004
|
NM_001384732.1(CPLANE1):c.7589-12A>C
|
rs767934439
|
0.00004
|
NM_001384732.1(CPLANE1):c.8120-6A>G
|
rs373606578
|
0.00004
|
NM_002449.5(MSX2):c.380-9G>C
|
rs769673082
|
0.00004
|
NM_002601.4(PDE6D):c.50+16C>A
|
rs993589615
|
0.00004
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=)
|
rs761735561
|
0.00004
|
NM_005027.4(PIK3R2):c.1980-5C>T
|
rs771103459
|
0.00004
|
NM_005465.7(AKT3):c.1104A>G (p.Thr368=)
|
rs774883413
|
0.00004
|
NM_005465.7(AKT3):c.820-18A>G
|
rs750153115
|
0.00004
|
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)
|
rs201402676
|
0.00004
|
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=)
|
rs190138661
|
0.00004
|
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=)
|
rs376307168
|
0.00004
|
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)
|
rs200733182
|
0.00004
|
NM_014846.4(WASHC5):c.612A>G (p.Pro204=)
|
rs376240904
|
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_015631.6(TCTN3):c.1591-12T>C
|
rs373643964
|
0.00004
|
NM_015631.6(TCTN3):c.381-19C>G
|
rs759096352
|
0.00004
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_018718.3(CEP41):c.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_020320.5(RARS2):c.444C>T (p.Thr148=)
|
rs201596004
|
0.00004
|
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=)
|
rs746144334
|
0.00004
|
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=)
|
rs774530909
|
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_153240.5(NPHP3):c.3399C>T (p.Asp1133=)
|
rs766231228
|
0.00004
|
NM_000368.4(TSC1):c.-242G>T
|
rs571288003
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000368.5(TSC1):c.1334-16C>T
|
rs373774544
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)
|
rs201192125
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)
|
rs748774860
|
0.00003
|
NM_000548.5(TSC2):c.138+18G>A
|
rs966402370
|
0.00003
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2837+12G>A
|
rs755041349
|
0.00003
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)
|
rs1060504106
|
0.00003
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
0.00003
|
NM_001044385.3(TMEM237):c.75-8C>T
|
rs1274569461
|
0.00003
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
NM_001082486.1(ACD):c.27C>T (p.Ala9=)
|
rs780167082
|
0.00003
|
NM_001082486.2(ACD):c.1017C>T (p.Ser339=)
|
rs769298187
|
0.00003
|
NM_001082486.2(ACD):c.1269G>A (p.Thr423=)
|
rs751284994
|
0.00003
|
NM_001082486.2(ACD):c.242+13dup
|
rs774149870
|
0.00003
|
NM_001082486.2(ACD):c.255G>A (p.Glu85=)
|
rs146942923
|
0.00003
|
NM_001082486.2(ACD):c.337-14C>T
|
rs765992071
|
0.00003
|
NM_001082486.2(ACD):c.829+11G>A
|
rs778449742
|
0.00003
|
NM_001082486.2(ACD):c.891G>A (p.Leu297=)
|
rs1459307216
|
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_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001368809.2(AMPD2):c.-13C>T
|
rs759860840
|
0.00003
|
NM_001368809.2(AMPD2):c.-19C>T
|
rs771607197
|
0.00003
|
NM_001368809.2(AMPD2):c.-67T>C
|
rs745646206
|
0.00003
|
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=)
|
rs367822022
|
0.00003
|
NM_001368809.2(AMPD2):c.353+9G>A
|
rs371094107
|
0.00003
|
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=)
|
rs183170041
|
0.00003
|
NM_001384732.1(CPLANE1):c.570+12C>T
|
rs1339498232
|
0.00003
|
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=)
|
rs370303703
|
0.00003
|
NM_002449.5(MSX2):c.-42C>T
|
rs758437365
|
0.00003
|
NM_002449.5(MSX2):c.255C>T (p.Gly85=)
|
rs367614252
|
0.00003
|
NM_002449.5(MSX2):c.379+9G>A
|
rs766596963
|
0.00003
|
NM_002449.5(MSX2):c.749C>T (p.Pro250Leu)
|
rs374244313
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
NM_005027.4(PIK3R2):c.1808+10C>T
|
rs549556976
|
0.00003
|
NM_005027.4(PIK3R2):c.467-17C>T
|
rs373288144
|
0.00003
|
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp)
|
rs897040629
|
0.00003
|
NM_005465.7(AKT3):c.906C>T (p.Thr302=)
|
rs770248544
|
0.00003
|
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=)
|
rs1344658074
|
0.00003
|
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)
|
rs147434450
|
0.00003
|
NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=)
|
rs754759068
|
0.00003
|
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)
|
rs749478956
|
0.00003
|
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=)
|
rs781517421
|
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_015631.6(TCTN3):c.1134T>G (p.Pro378=)
|
rs771848227
|
0.00003
|
NM_015631.6(TCTN3):c.153A>G (p.Ser51=)
|
rs937027387
|
0.00003
|
NM_015631.6(TCTN3):c.18C>T (p.Leu6=)
|
rs879694012
|
0.00003
|
NM_018718.3(CEP41):c.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_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_000368.5(TSC1):c.3075C>T (p.Ser1025=)
|
rs765753157
|
0.00002
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.2098-18C>T
|
rs1246072517
|
0.00002
|
NM_000548.5(TSC2):c.3284+11C>A
|
rs769334480
|
0.00002
|
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=)
|
rs757244510
|
0.00002
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
NM_000548.5(TSC2):c.5161-8G>A
|
rs374674097
|
0.00002
|
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=)
|
rs753336580
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
NM_000548.5(TSC2):c.976-16C>T
|
rs773016098
|
0.00002
|
NM_001044385.3(TMEM237):c.274+18G>A
|
rs762194214
|
0.00002
|
NM_001044385.3(TMEM237):c.75-7G>A
|
rs1443411958
|
0.00002
|
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
|
rs934193386
|
0.00002
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
NM_001082486.1(ACD):c.102A>C (p.Arg34=)
|
rs773306733
|
0.00002
|
NM_001082486.1(ACD):c.84T>C (p.Ser28=)
|
rs753040978
|
0.00002
|
NM_001082486.2(ACD):c.1314C>T (p.Leu438=)
|
rs528476326
|
0.00002
|
NM_001082486.2(ACD):c.1320C>T (p.Ala440=)
|
rs765091780
|
0.00002
|
NM_001082486.2(ACD):c.159C>T (p.Asp53=)
|
rs761226246
|
0.00002
|
NM_001082486.2(ACD):c.413+9T>C
|
rs774274068
|
0.00002
|
NM_001082486.2(ACD):c.459-18G>A
|
rs1449515028
|
0.00002
|
NM_001082486.2(ACD):c.609T>C (p.Pro203=)
|
rs752926001
|
0.00002
|
NM_001082486.2(ACD):c.642C>T (p.Ala214=)
|
rs375866577
|
0.00002
|
NM_001082486.2(ACD):c.743-14C>T
|
rs781614614
|
0.00002
|
NM_001082486.2(ACD):c.743-17C>T
|
rs746257998
|
0.00002
|
NM_001082486.2(ACD):c.99+20C>T
|
rs751731124
|
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_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_001368809.2(AMPD2):c.-112G>A
|
rs759948714
|
0.00002
|
NM_001368809.2(AMPD2):c.1050G>A (p.Val350=)
|
rs758064430
|
0.00002
|
NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=)
|
rs756936910
|
0.00002
|
NM_001368809.2(AMPD2):c.1276-4C>T
|
rs769541378
|
0.00002
|
NM_001368809.2(AMPD2):c.1862+10C>T
|
rs371378180
|
0.00002
|
NM_001368809.2(AMPD2):c.223-5C>A
|
rs764953041
|
0.00002
|
NM_001368809.2(AMPD2):c.353+10G>A
|
rs1269768577
|
0.00002
|
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=)
|
rs1420586506
|
0.00002
|
NM_001384732.1(CPLANE1):c.3508-19A>G
|
rs754906346
|
0.00002
|
NM_001384732.1(CPLANE1):c.5738-5G>A
|
rs570312147
|
0.00002
|
NM_002449.5(MSX2):c.803A>G (p.Ter268=)
|
rs1436220047
|
0.00002
|
NM_002601.4(PDE6D):c.363C>T (p.Ser121=)
|
rs1206823310
|
0.00002
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
|
rs1260959326
|
0.00002
|
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)
|
rs760415071
|
0.00002
|
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=)
|
rs112163556
|
0.00002
|
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys)
|
rs759139578
|
0.00002
|
NM_005027.4(PIK3R2):c.322+7A>G
|
rs774883359
|
0.00002
|
NM_005465.7(AKT3):c.1050C>T (p.Asp350=)
|
rs1026697335
|
0.00002
|
NM_005465.7(AKT3):c.1386T>C (p.Asn462=)
|
rs778193336
|
0.00002
|
NM_005465.7(AKT3):c.47-18C>T
|
rs186964075
|
0.00002
|
NM_005465.7(AKT3):c.564T>C (p.Asp188=)
|
rs775503811
|
0.00002
|
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=)
|
rs199725572
|
0.00002
|
NM_014846.4(WASHC5):c.1689-4A>G
|
rs777297323
|
0.00002
|
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=)
|
rs750122277
|
0.00002
|
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=)
|
rs769221945
|
0.00002
|
NM_014846.4(WASHC5):c.2380-6T>C
|
rs375887732
|
0.00002
|
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)
|
rs554772608
|
0.00002
|
NM_014846.4(WASHC5):c.417+9T>C
|
rs758034244
|
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_015631.6(TCTN3):c.1298+16C>T
|
rs777492522
|
0.00002
|
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=)
|
rs1026823695
|
0.00002
|
NM_015631.6(TCTN3):c.1591-9T>G
|
rs1317879597
|
0.00002
|
NM_015631.6(TCTN3):c.889-18G>C
|
rs1254012662
|
0.00002
|
NM_015631.6(TCTN3):c.931C>T (p.Leu311=)
|
rs774592467
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
NM_016464.5(TMEM138):c.128+8C>T
|
rs769334895
|
0.00002
|
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)
|
rs199841349
|
0.00002
|
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)
|
rs781330063
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
0.00002
|
NM_018718.3(CEP41):c.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
0.00002
|
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
NM_020320.5(RARS2):c.1170C>T (p.Val390=)
|
rs780796866
|
0.00002
|
NM_021926.4(ALX4):c.1218C>T (p.Ala406=)
|
rs745849255
|
0.00002
|
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=)
|
rs760179150
|
0.00002
|
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=)
|
rs144459176
|
0.00002
|
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=)
|
rs574323645
|
0.00002
|
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=)
|
rs773997509
|
0.00002
|
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=)
|
rs750879802
|
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_153240.5(NPHP3):c.1308A>G (p.Gly436=)
|
rs777911324
|
0.00002
|
NM_153240.5(NPHP3):c.3813-10T>C
|
rs372263313
|
0.00002
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1263+6_1263+8dup
|
rs751182565
|
0.00001
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)
|
rs118203580
|
0.00001
|
NM_000368.5(TSC1):c.2208+7A>G
|
rs777732621
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=)
|
rs745475737
|
0.00001
|
NM_000368.5(TSC1):c.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)
|
rs749616364
|
0.00001
|
NM_000548.5(TSC2):c.1361+20C>G
|
rs538626543
|
0.00001
|
NM_000548.5(TSC2):c.1443+19G>A
|
rs1219381067
|
0.00001
|
NM_000548.5(TSC2):c.1662G>A (p.Ser554=)
|
rs775617895
|
0.00001
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
NM_000548.5(TSC2):c.225+12C>A
|
rs886038352
|
0.00001
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)
|
rs141728350
|
0.00001
|
NM_000548.5(TSC2):c.2778C>T (p.Asp926=)
|
rs776069297
|
0.00001
|
NM_000548.5(TSC2):c.336+10A>G
|
rs587778005
|
0.00001
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)
|
rs773240506
|
0.00001
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
NM_000548.5(TSC2):c.3732C>T (p.His1244=)
|
rs1264194267
|
0.00001
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.4494-12C>T
|
rs780056359
|
0.00001
|
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=)
|
rs45517361
|
0.00001
|
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)
|
rs766665967
|
0.00001
|
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)
|
rs930171871
|
0.00001
|
NM_000548.5(TSC2):c.4850-12G>A
|
rs371810493
|
0.00001
|
NM_000548.5(TSC2):c.4850-18G>A
|
rs902020009
|
0.00001
|
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=)
|
rs878854113
|
0.00001
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
NM_000548.5(TSC2):c.5400G>C (p.Val1800=)
|
rs777327091
|
0.00001
|
NM_000548.5(TSC2):c.648+17C>A
|
rs755431618
|
0.00001
|
NM_000548.5(TSC2):c.693G>A (p.Leu231=)
|
rs764417359
|
0.00001
|
NM_000548.5(TSC2):c.848+10G>A
|
rs1405925936
|
0.00001
|
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)
|
rs770907860
|
0.00001
|
NM_001044385.3(TMEM237):c.1159+20G>A
|
rs1162670210
|
0.00001
|
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
NM_001044385.3(TMEM237):c.42+15G>A
|
rs1461749315
|
0.00001
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
0.00001
|
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
|
rs1466574515
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
0.00001
|
NM_001077418.3(TMEM231):c.770+18G>T
|
rs1413880610
|
0.00001
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
NM_001082486.1(ACD):c.174G>A (p.Lys58=)
|
rs780457506
|
0.00001
|
NM_001082486.2(ACD):c.-1G>C
|
rs1432567553
|
0.00001
|
NM_001082486.2(ACD):c.-37C>T
|
rs1377497479
|
0.00001
|
NM_001082486.2(ACD):c.1002C>T (p.Ser334=)
|
rs372195324
|
0.00001
|
NM_001082486.2(ACD):c.1032C>T (p.Cys344=)
|
rs776364958
|
0.00001
|
NM_001082486.2(ACD):c.114C>G (p.Ala38=)
|
rs756189227
|
0.00001
|
NM_001082486.2(ACD):c.1158T>C (p.Phe386=)
|
rs1371779126
|
0.00001
|
NM_001082486.2(ACD):c.1167C>T (p.Thr389=)
|
rs370757729
|
0.00001
|
NM_001082486.2(ACD):c.1299-16G>A
|
rs746378955
|
0.00001
|
NM_001082486.2(ACD):c.15G>T (p.Gly5=)
|
rs1032620777
|
0.00001
|
NM_001082486.2(ACD):c.186C>T (p.Asp62=)
|
rs998982026
|
0.00001
|
NM_001082486.2(ACD):c.242+8G>A
|
rs1402954442
|
0.00001
|
NM_001082486.2(ACD):c.261C>A (p.Gly87=)
|
rs752019137
|
0.00001
|
NM_001082486.2(ACD):c.337-10A>C
|
rs566079044
|
0.00001
|
NM_001082486.2(ACD):c.414-5C>A
|
rs372700670
|
0.00001
|
NM_001082486.2(ACD):c.486C>T (p.Ser162=)
|
rs777238079
|
0.00001
|
NM_001082486.2(ACD):c.494-10_494-9del
|
rs1190418028
|
0.00001
|
NM_001082486.2(ACD):c.494-11C>T
|
rs368882788
|
0.00001
|
NM_001082486.2(ACD):c.666C>T (p.Val222=)
|
rs374438854
|
0.00001
|
NM_001082486.2(ACD):c.693G>A (p.Glu231=)
|
rs780267725
|
0.00001
|
NM_001082486.2(ACD):c.696T>C (p.Asn232=)
|
rs544679646
|
0.00001
|
NM_001082486.2(ACD):c.711G>T (p.Leu237=)
|
rs1212715141
|
0.00001
|
NM_001082486.2(ACD):c.743-4C>A
|
rs1455941784
|
0.00001
|
NM_001082486.2(ACD):c.829+10T>C
|
rs1332514211
|
0.00001
|
NM_001082486.2(ACD):c.830-12C>T
|
rs748678952
|
0.00001
|
NM_001128178.3(NPHP1):c.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
NM_001134831.2(AHI1):c.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_001368809.2(AMPD2):c.-151T>C
|
rs748788622
|
0.00001
|
NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=)
|
rs1048375978
|
0.00001
|
NM_001368809.2(AMPD2):c.1571+9C>T
|
rs991003516
|
0.00001
|
NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=)
|
rs758218441
|
0.00001
|
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=)
|
rs767362652
|
0.00001
|
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=)
|
rs753496081
|
0.00001
|
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=)
|
rs745929697
|
0.00001
|
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)
|
rs1351463033
|
0.00001
|
NM_001368809.2(AMPD2):c.21C>T (p.Gly7=)
|
rs762011633
|
0.00001
|
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=)
|
rs778185309
|
0.00001
|
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=)
|
rs1369584235
|
0.00001
|
NM_001384732.1(CPLANE1):c.1121+7C>T
|
rs776591358
|
0.00001
|
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=)
|
rs1561663335
|
0.00001
|
NM_001384732.1(CPLANE1):c.2501-7T>C
|
rs1315683149
|
0.00001
|
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=)
|
rs571145214
|
0.00001
|
NM_001384732.1(CPLANE1):c.6463-17T>C
|
rs753835579
|
0.00001
|
NM_001384732.1(CPLANE1):c.7401-14A>G
|
rs1052354484
|
0.00001
|
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=)
|
rs145750519
|
0.00001
|
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=)
|
rs771793682
|
0.00001
|
NM_001384732.1(CPLANE1):c.8461+19G>A
|
rs772961080
|
0.00001
|
NM_002449.5(MSX2):c.174G>A (p.Pro58=)
|
rs1234123597
|
0.00001
|
NM_002449.5(MSX2):c.228G>A (p.Leu76=)
|
rs999180495
|
0.00001
|
NM_002449.5(MSX2):c.252C>T (p.His84=)
|
rs531764887
|
0.00001
|
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn)
|
rs760574628
|
0.00001
|
NM_002449.5(MSX2):c.750G>A (p.Pro250=)
|
rs760404926
|
0.00001
|
NM_002601.4(PDE6D):c.140-19T>C
|
rs766425103
|
0.00001
|
NM_002601.4(PDE6D):c.405C>T (p.Asp135=)
|
rs373459369
|
0.00001
|
NM_002601.4(PDE6D):c.50+11G>C
|
rs758184957
|
0.00001
|
NM_002601.4(PDE6D):c.50+18G>A
|
rs747869732
|
0.00001
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser)
|
rs778914291
|
0.00001
|
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)
|
rs1010993658
|
0.00001
|
NM_004958.4(MTOR):c.7447+27C>A
|
rs369718641
|
0.00001
|
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=)
|
rs1031365601
|
0.00001
|
NM_005027.4(PIK3R2):c.1559+10G>A
|
rs562886046
|
0.00001
|
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=)
|
rs750813850
|
0.00001
|
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=)
|
rs780181859
|
0.00001
|
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=)
|
rs991022925
|
0.00001
|
NM_005027.4(PIK3R2):c.467-11T>C
|
rs746464481
|
0.00001
|
NM_005027.4(PIK3R2):c.598+20C>T
|
rs1287594814
|
0.00001
|
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=)
|
rs977691358
|
0.00001
|
NM_005465.7(AKT3):c.1164-7C>T
|
rs187627364
|
0.00001
|
NM_005465.7(AKT3):c.172+19T>C
|
rs746689777
|
0.00001
|
NM_005465.7(AKT3):c.284+10T>C
|
rs371954528
|
0.00001
|
NM_005465.7(AKT3):c.417T>C (p.His139=)
|
rs1283519302
|
0.00001
|
NM_005465.7(AKT3):c.47-10C>T
|
rs751741670
|
0.00001
|
NM_005465.7(AKT3):c.504G>A (p.Lys168=)
|
rs751924257
|
0.00001
|
NM_005465.7(AKT3):c.562-6T>C
|
rs1277089927
|
0.00001
|
NM_005465.7(AKT3):c.726G>A (p.Val242=)
|
rs781331863
|
0.00001
|
NM_005465.7(AKT3):c.729C>T (p.Phe243=)
|
rs1340146435
|
0.00001
|
NM_014846.4(WASHC5):c.1521+10C>T
|
rs760233617
|
0.00001
|
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=)
|
rs1375065582
|
0.00001
|
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=)
|
rs780912744
|
0.00001
|
NM_014846.4(WASHC5):c.1688+10G>A
|
rs200755877
|
0.00001
|
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=)
|
rs767965256
|
0.00001
|
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=)
|
rs1044612540
|
0.00001
|
NM_014846.4(WASHC5):c.2098-6A>G
|
rs984555140
|
0.00001
|
NM_014846.4(WASHC5):c.2199+14A>G
|
rs754889043
|
0.00001
|
NM_014846.4(WASHC5):c.2379+8A>T
|
rs1198647443
|
0.00001
|
NM_014846.4(WASHC5):c.2955-10C>G
|
rs1388469388
|
0.00001
|
NM_014846.4(WASHC5):c.348C>T (p.Leu116=)
|
rs1817292048
|
0.00001
|
NM_014846.4(WASHC5):c.435A>G (p.Leu145=)
|
rs145842027
|
0.00001
|
NM_014846.4(WASHC5):c.518+12C>T
|
rs776771436
|
0.00001
|
NM_014846.4(WASHC5):c.654C>T (p.Asn218=)
|
rs144085283
|
0.00001
|
NM_014846.4(WASHC5):c.885G>A (p.Gly295=)
|
rs1435894101
|
0.00001
|
NM_014846.4(WASHC5):c.975A>G (p.Glu325=)
|
rs773768832
|
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_015631.6(TCTN3):c.1298+17G>A
|
rs776775920
|
0.00001
|
NM_015631.6(TCTN3):c.1299-19C>T
|
rs751339831
|
0.00001
|
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=)
|
rs2097944339
|
0.00001
|
NM_015631.6(TCTN3):c.1590+15A>G
|
rs781078051
|
0.00001
|
NM_015631.6(TCTN3):c.222G>A (p.Ser74=)
|
rs913092788
|
0.00001
|
NM_015631.6(TCTN3):c.257-11T>G
|
rs1201207763
|
0.00001
|
NM_015631.6(TCTN3):c.499+11A>G
|
rs1428675552
|
0.00001
|
NM_015631.6(TCTN3):c.499+18G>A
|
rs1386147381
|
0.00001
|
NM_015631.6(TCTN3):c.507A>G (p.Leu169=)
|
rs1566075059
|
0.00001
|
NM_015631.6(TCTN3):c.531G>A (p.Lys177=)
|
rs199774247
|
0.00001
|
NM_015631.6(TCTN3):c.549C>T (p.Phe183=)
|
rs1403001274
|
0.00001
|
NM_015631.6(TCTN3):c.627+18G>A
|
rs763302632
|
0.00001
|
NM_015631.6(TCTN3):c.705T>C (p.Ala235=)
|
rs1251898935
|
0.00001
|
NM_015631.6(TCTN3):c.889-15T>G
|
rs760597184
|
0.00001
|
NM_015631.6(TCTN3):c.889-9C>T
|
rs924437747
|
0.00001
|
NM_015631.6(TCTN3):c.945C>T (p.Asn315=)
|
rs763364836
|
0.00001
|
NM_015631.6(TCTN3):c.9C>A (p.Thr3=)
|
rs1471002377
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
NM_016464.5(TMEM138):c.129-18T>A
|
rs1181378192
|
0.00001
|
NM_016464.5(TMEM138):c.129-20A>T
|
rs1477684645
|
0.00001
|
NM_016464.5(TMEM138):c.129-8G>T
|
rs1438561210
|
0.00001
|
NM_016464.5(TMEM138):c.276C>T (p.Ser92=)
|
rs756828257
|
0.00001
|
NM_016464.5(TMEM138):c.300+17G>A
|
rs1858147311
|
0.00001
|
NM_016464.5(TMEM138):c.301-9C>A
|
rs764884921
|
0.00001
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
0.00001
|
NM_018718.3(CEP41):c.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
NM_018718.3(CEP41):c.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
0.00001
|
NM_018718.3(CEP41):c.643-12T>C
|
rs782521409
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
0.00001
|
NM_018718.3(CEP41):c.973+11T>C
|
rs781847285
|
0.00001
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
NM_020320.5(RARS2):c.660A>C (p.Ala220=)
|
rs553502877
|
0.00001
|
NM_020320.5(RARS2):c.885A>G (p.Gly295=)
|
rs769636930
|
0.00001
|
NM_021926.4(ALX4):c.*25C>T
|
rs780898515
|
0.00001
|
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=)
|
rs34713392
|
0.00001
|
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=)
|
rs768672121
|
0.00001
|
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=)
|
rs1558110685
|
0.00001
|
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=)
|
rs760666458
|
0.00001
|
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=)
|
rs762552451
|
0.00001
|
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=)
|
rs1421095735
|
0.00001
|
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=)
|
rs771842799
|
0.00001
|
NM_022836.4(DCLRE1B):c.99C>T (p.His33=)
|
rs747335906
|
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_033026.6(PCLO):c.4595G>A (p.Ser1532Asn)
|
rs557658951
|
0.00001
|
NM_138959.3(VANGL1):c.*2344A>C
|
rs531884184
|
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_178161.3(PTF1A):c.499G>A (p.Ala167Thr)
|
rs565666569
|
0.00001
|
NC_000016.10:g.67660284T>C
|
rs2142976427
|
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
NM_000368.5(TSC1):c.*2228G>A
|
rs528833042
|
|
NM_000368.5(TSC1):c.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*295C>A
|
rs113549339
|
|
NM_000368.5(TSC1):c.*4631del
|
rs60000611
|
|
NM_000368.5(TSC1):c.1344T>C (p.Pro448=)
|
rs530908428
|
|
NM_000368.5(TSC1):c.1536C>T (p.Leu512=)
|
rs1264512400
|
|
NM_000368.5(TSC1):c.217T>C (p.Leu73=)
|
rs2132239282
|
|
NM_000368.5(TSC1):c.2392-8_2392-7del
|
rs1554814696
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)
|
rs1060504857
|
|
NM_000368.5(TSC1):c.509-9C>G
|
rs1275897593
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
|
rs397515293
|
|
NM_000435.3(NOTCH3):c.2410+15dup
|
rs747731340
|
|
NM_000548.5(TSC2):c.1119+11G>C
|
rs1026151983
|
|
NM_000548.5(TSC2):c.1119+12dup
|
rs750078037
|
|
NM_000548.5(TSC2):c.1258-4A>G
|
rs2086763634
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
NM_000548.5(TSC2):c.1443+9C>G
|
rs2151173612
|
|
NM_000548.5(TSC2):c.1599+16C>A
|
rs45517181
|
|
NM_000548.5(TSC2):c.1717-20G>T
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.2220+12G>T
|
rs780039835
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2639+12C>T
|
rs1400051232
|
|
NM_000548.5(TSC2):c.2742+11G>A
|
rs1256570311
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=)
|
rs2151455530
|
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.444C>T (p.Asp148=)
|
rs767968378
|
|
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT
|
rs2151539107
|
|
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4570-13C>T
|
rs370549253
|
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
NM_000548.5(TSC2):c.600-18G>C
|
rs199683502
|
|
NM_000548.5(TSC2):c.648+11C>G
|
rs371896390
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
NM_000548.5(TSC2):c.975+15G>A
|
rs753334357
|
|
NM_000548.5(TSC2):c.975+19G>T
|
rs909473730
|
|
NM_001044385.3(TMEM237):c.*2142G>C
|
rs76042698
|
|
NM_001044385.3(TMEM237):c.-25G>A
|
rs568671275
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
NM_001044385.3(TMEM237):c.1038-13T>C
|
|
|
NM_001044385.3(TMEM237):c.1038-16G>A
|
|
|
NM_001044385.3(TMEM237):c.1038-18G>C
|
rs1462537932
|
|
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
|
|
|
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
|
|
|
NM_001044385.3(TMEM237):c.1159+15A>C
|
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
NM_001044385.3(TMEM237):c.136+19T>C
|
rs2105903480
|
|
NM_001044385.3(TMEM237):c.136+20T>C
|
|
|
NM_001044385.3(TMEM237):c.137-14_137-13del
|
|
|
NM_001044385.3(TMEM237):c.137-17A>G
|
|
|
NM_001044385.3(TMEM237):c.137-19C>G
|
rs369430368
|
|
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=)
|
rs2105902384
|
|
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)
|
rs2105902371
|
|
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)
|
rs2105902357
|
|
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)
|
rs377090903
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
NM_001044385.3(TMEM237):c.274+14C>G
|
|
|
NM_001044385.3(TMEM237):c.274+18G>C
|
|
|
NM_001044385.3(TMEM237):c.274+9A>G
|
|
|
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
|
|
|
NM_001044385.3(TMEM237):c.395+16T>C
|
|
|
NM_001044385.3(TMEM237):c.396-15A>G
|
|
|
NM_001044385.3(TMEM237):c.396-4A>G
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)
|
rs2105900286
|
|
NM_001044385.3(TMEM237):c.42+16C>G
|
rs2105906044
|
|
NM_001044385.3(TMEM237):c.42+18C>T
|
|
|
NM_001044385.3(TMEM237):c.42+7G>T
|
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
|
|
|
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)
|
rs2105900225
|
|
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
|
rs1433478535
|
|
NM_001044385.3(TMEM237):c.554-3dup
|
rs778807445
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
|
rs2105899171
|
|
NM_001044385.3(TMEM237):c.677+18A>G
|
|
|
NM_001044385.3(TMEM237):c.678-13C>T
|
rs1957789089
|
|
NM_001044385.3(TMEM237):c.678-15C>A
|
|
|
NM_001044385.3(TMEM237):c.678-6A>G
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
|
rs1957787811
|
|
NM_001044385.3(TMEM237):c.75-19G>A
|
|
|
NM_001044385.3(TMEM237):c.75-5G>A
|
|
|
NM_001044385.3(TMEM237):c.79+20A>T
|
rs745908076
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.80-20C>T
|
rs753443048
|
|
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
|
|
|
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)
|
rs2105898943
|
|
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
|
|
|
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
|
rs2105898925
|
|
NM_001044385.3(TMEM237):c.869+11T>C
|
|
|
NM_001044385.3(TMEM237):c.869+15T>C
|
|
|
NM_001044385.3(TMEM237):c.869+16C>T
|
rs980158363
|
|
NM_001044385.3(TMEM237):c.869+8C>G
|
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
|
|
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
|
|
NM_001044385.3(TMEM237):c.943+15dup
|
|
|
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
|
|
|
NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
|
|
NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
|
|
|
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
|
|
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
|
|
|
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
|
|
|
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
|
|
|
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
|
|
|
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
|
|
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
NM_001077418.3(TMEM231):c.310-15G>C
|
rs2151703201
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
|
|
|
NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
|
|
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
|
|
|
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
|
|
|
NM_001077418.3(TMEM231):c.582+17T>G
|
|
|
NM_001077418.3(TMEM231):c.582+8C>T
|
|
|
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001077418.3(TMEM231):c.665-13G>C
|
|
|
NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
|
|
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
NM_001077418.3(TMEM231):c.770+20G>A
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
NM_001077418.3(TMEM231):c.771-4A>G
|
|
|
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
|
|
|
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
|
|
|
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
|
|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
|
|
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
|
|
|
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
|
|
NM_001077446.4(TSEN34):c.*385A>T
|
rs36622
|
|
NM_001082486.1(ACD):c.102A>G (p.Arg34=)
|
|
|
NM_001082486.1(ACD):c.123G>A (p.Gln41=)
|
rs974748354
|
|
NM_001082486.1(ACD):c.132T>C (p.Gly44=)
|
|
|
NM_001082486.1(ACD):c.135A>T (p.Val45=)
|
rs1567643005
|
|
NM_001082486.1(ACD):c.138T>C (p.Arg46=)
|
|
|
NM_001082486.1(ACD):c.150C>A (p.Leu50=)
|
|
|
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
|
|
|
NM_001082486.1(ACD):c.157C>A (p.Arg53=)
|
rs773291286
|
|
NM_001082486.1(ACD):c.183T>C (p.Pro61=)
|
rs2052981802
|
|
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
|
|
|
NM_001082486.1(ACD):c.60A>C (p.Ala20=)
|
|
|
NM_001082486.1(ACD):c.66G>C (p.Ala22=)
|
rs766076324
|
|
NM_001082486.1(ACD):c.69G>A (p.Gly23=)
|
rs554258142
|
|
NM_001082486.1(ACD):c.69G>C (p.Gly23=)
|
|
|
NM_001082486.1(ACD):c.87G>A (p.Leu29=)
|
rs1295714510
|
|
NM_001082486.1(ACD):c.90C>T (p.His30=)
|
rs2052986707
|
|
NM_001082486.1(ACD):c.96C>A (p.Gly32=)
|
rs574891736
|
|
NM_001082486.1(ACD):c.96C>G (p.Gly32=)
|
rs574891736
|
|
NM_001082486.1(ACD):c.96C>T (p.Gly32=)
|
|
|
NM_001082486.2(ACD):c.-16G>C
|
|
|
NM_001082486.2(ACD):c.-19G>T
|
|
|
NM_001082486.2(ACD):c.-31C>A
|
rs775903443
|
|
NM_001082486.2(ACD):c.-31C>T
|
|
|
NM_001082486.2(ACD):c.-34G>C
|
|
|
NM_001082486.2(ACD):c.100-12C>T
|
|
|
NM_001082486.2(ACD):c.100-15G>A
|
|
|
NM_001082486.2(ACD):c.100-15G>C
|
|
|
NM_001082486.2(ACD):c.100-15G>T
|
rs747553547
|
|
NM_001082486.2(ACD):c.100-16C>T
|
|
|
NM_001082486.2(ACD):c.100-19C>T
|
|
|
NM_001082486.2(ACD):c.100-6C>T
|
rs1597774112
|
|
NM_001082486.2(ACD):c.100-9C>T
|
|
|
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
|
|
|
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
|
|
|
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
|
|
|
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
|
|
|
NM_001082486.2(ACD):c.1074C>T (p.His358=)
|
|
|
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
|
|
|
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
|
|
|
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
|
|
|
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
|
|
|
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
|
|
|
NM_001082486.2(ACD):c.114C>T (p.Ala38=)
|
rs756189227
|
|
NM_001082486.2(ACD):c.1206+10G>C
|
|
|
NM_001082486.2(ACD):c.1206+10del
|
rs2052907559
|
|
NM_001082486.2(ACD):c.1206+18G>A
|
|
|
NM_001082486.2(ACD):c.1206+8T>C
|
|
|
NM_001082486.2(ACD):c.1207-18A>G
|
|
|
NM_001082486.2(ACD):c.1224T>C (p.His408=)
|
|
|
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
|
|
|
NM_001082486.2(ACD):c.1293T>C (p.Ala431=)
|
rs1597767407
|
|
NM_001082486.2(ACD):c.1298+17G>A
|
|
|
NM_001082486.2(ACD):c.1298+9C>T
|
rs776494951
|
|
NM_001082486.2(ACD):c.1299-14T>C
|
rs1413270785
|
|
NM_001082486.2(ACD):c.1299-4C>T
|
rs1597767023
|
|
NM_001082486.2(ACD):c.1332C>T (p.His444=)
|
|
|
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
|
|
|
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
|
|
|
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
|
|
|
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
|
|
|
NM_001082486.2(ACD):c.174G>A (p.Leu58=)
|
rs768395580
|
|
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
|
|
|
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
|
|
|
NM_001082486.2(ACD):c.18G>A (p.Arg6=)
|
rs779383442
|
|
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
|
|
|
NM_001082486.2(ACD):c.201C>T (p.Val67=)
|
rs1428575354
|
|
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
|
|
|
NM_001082486.2(ACD):c.243-13C>T
|
|
|
NM_001082486.2(ACD):c.243-14C>G
|
rs531965174
|
|
NM_001082486.2(ACD):c.243-14C>T
|
|
|
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
|
|
|
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
|
|
|
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
|
|
|
NM_001082486.2(ACD):c.283C>T (p.Leu95=)
|
rs2142974673
|
|
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
|
|
|
NM_001082486.2(ACD):c.303C>T (p.Cys101=)
|
rs2142974629
|
|
NM_001082486.2(ACD):c.330C>A (p.Gly110=)
|
rs1214995325
|
|
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
|
|
|
NM_001082486.2(ACD):c.336+8G>A
|
|
|
NM_001082486.2(ACD):c.336+8G>T
|
|
|
NM_001082486.2(ACD):c.337-12G>A
|
rs1021416366
|
|
NM_001082486.2(ACD):c.337-16C>G
|
|
|
NM_001082486.2(ACD):c.337-17C>T
|
rs1186068061
|
|
NM_001082486.2(ACD):c.337-20T>G
|
rs1567641944
|
|
NM_001082486.2(ACD):c.337-5_337-3del
|
|
|
NM_001082486.2(ACD):c.394C>A (p.Arg132=)
|
rs2052957232
|
|
NM_001082486.2(ACD):c.405G>A (p.Val135=)
|
|
|
NM_001082486.2(ACD):c.413+11C>T
|
|
|
NM_001082486.2(ACD):c.413+7G>A
|
rs1017802690
|
|
NM_001082486.2(ACD):c.413+9T>A
|
|
|
NM_001082486.2(ACD):c.414-16C>A
|
rs1363142172
|
|
NM_001082486.2(ACD):c.414-17C>G
|
rs1291861643
|
|
NM_001082486.2(ACD):c.414-7T>C
|
|
|
NM_001082486.2(ACD):c.414-9T>G
|
|
|
NM_001082486.2(ACD):c.458+20C>T
|
|
|
NM_001082486.2(ACD):c.459-12C>G
|
|
|
NM_001082486.2(ACD):c.459-14C>T
|
rs2142972775
|
|
NM_001082486.2(ACD):c.459-16C>T
|
rs1422483519
|
|
NM_001082486.2(ACD):c.459-4G>A
|
|
|
NM_001082486.2(ACD):c.459-4G>T
|
|
|
NM_001082486.2(ACD):c.459-5T>C
|
rs367821436
|
|
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
|
|
|
NM_001082486.2(ACD):c.493+10A>C
|
|
|
NM_001082486.2(ACD):c.493+16A>G
|
|
|
NM_001082486.2(ACD):c.493+19A>G
|
|
|
NM_001082486.2(ACD):c.494-19C>T
|
rs749224903
|
|
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
|
|
|
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
|
|
|
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
|
|
|
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
|
|
|
NM_001082486.2(ACD):c.558G>A (p.Val186=)
|
|
|
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
|
|
|
NM_001082486.2(ACD):c.583C>T (p.Leu195=)
|
rs2142971297
|
|
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
|
|
|
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
|
|
|
NM_001082486.2(ACD):c.612C>T (p.Val204=)
|
|
|
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
|
|
|
NM_001082486.2(ACD):c.645+16T>C
|
|
|
NM_001082486.2(ACD):c.645+16T>G
|
|
|
NM_001082486.2(ACD):c.645+7C>G
|
|
|
NM_001082486.2(ACD):c.646-11A>G
|
|
|
NM_001082486.2(ACD):c.646-6C>T
|
|
|
NM_001082486.2(ACD):c.666C>A (p.Val222=)
|
|
|
NM_001082486.2(ACD):c.723C>T (p.Gly241=)
|
rs757919779
|
|
NM_001082486.2(ACD):c.743-6C>T
|
|
|
NM_001082486.2(ACD):c.743-7C>A
|
rs541174802
|
|
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
|
|
|
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
|
|
|
NM_001082486.2(ACD):c.781C>T (p.Leu261=)
|
rs760404492
|
|
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
|
|
|
NM_001082486.2(ACD):c.813C>T (p.Ser271=)
|
rs878924464
|
|
NM_001082486.2(ACD):c.825C>T (p.Ser275=)
|
rs747335465
|
|
NM_001082486.2(ACD):c.830-11C>T
|
|
|
NM_001082486.2(ACD):c.830-12C>A
|
|
|
NM_001082486.2(ACD):c.830-13C>A
|
|
|
NM_001082486.2(ACD):c.830-14C>T
|
rs2142968964
|
|
NM_001082486.2(ACD):c.830-5C>T
|
|
|
NM_001082486.2(ACD):c.830-9C>T
|
|
|
NM_001082486.2(ACD):c.861C>G (p.Ser287=)
|
rs751515020
|
|
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
|
|
|
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
|
|
|
NM_001082486.2(ACD):c.891G>C (p.Leu297=)
|
rs1459307216
|
|
NM_001082486.2(ACD):c.894T>A (p.Pro298=)
|
rs773774371
|
|
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
|
|
|
NM_001082486.2(ACD):c.939C>G (p.Ser313=)
|
rs1368630251
|
|
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
|
|
|
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
|
|
|
NM_001082486.2(ACD):c.99+19C>T
|
|
|
NM_001082486.2(ACD):c.9T>G (p.Gly3=)
|
rs2142976114
|
|
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.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)
|
rs1299907778
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001232.4(CASQ2):c.*1017del
|
rs11347859
|
|
NM_001367721.1(CASK):c.1504-97G>A
|
|
|
NM_001368809.2(AMPD2):c.-133C>T
|
|
|
NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)
|
|
|
NM_001368809.2(AMPD2):c.1080+16G>A
|
|
|
NM_001368809.2(AMPD2):c.1080+18G>A
|
|
|
NM_001368809.2(AMPD2):c.1081-18T>C
|
|
|
NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)
|
|
|
NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)
|
|
|
NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)
|
|
|
NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)
|
|
|
NM_001368809.2(AMPD2):c.1179C>T (p.His393=)
|
|
|
NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)
|
|
|
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
|
|
|
NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)
|
|
|
NM_001368809.2(AMPD2):c.1275+15C>T
|
|
|
NM_001368809.2(AMPD2):c.1276-13C>T
|
|
|
NM_001368809.2(AMPD2):c.1276-18C>G
|
|
|
NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)
|
|
|
NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)
|
|
|
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
|
|
|
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
|
|
|
NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)
|
|
|
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
|
|
|
NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=)
|
rs769002205
|
|
NM_001368809.2(AMPD2):c.1571+19G>A
|
|
|
NM_001368809.2(AMPD2):c.1572-13G>T
|
rs1370260788
|
|
NM_001368809.2(AMPD2):c.1699-5A>G
|
|
|
NM_001368809.2(AMPD2):c.1699-9C>A
|
|
|
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
|
|
|
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=)
|
rs2101169930
|
|
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=)
|
rs767362652
|
|
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
|
|
|
NM_001368809.2(AMPD2):c.1862+10C>G
|
|
|
NM_001368809.2(AMPD2):c.1863-7C>T
|
|
|
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
|
|
|
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
|
|
|
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=)
|
rs780963535
|
|
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
|
|
|
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
|
|
|
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
|
|
|
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
|
|
|
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
|
|
|
NM_001368809.2(AMPD2):c.2157+16G>T
|
|
|
NM_001368809.2(AMPD2):c.2158-14C>T
|
|
|
NM_001368809.2(AMPD2):c.2158-6G>C
|
|
|
NM_001368809.2(AMPD2):c.222+15C>T
|
|
|
NM_001368809.2(AMPD2):c.222+20G>T
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>A
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>C
|
|
|
NM_001368809.2(AMPD2):c.2268+18T>C
|
|
|
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=)
|
rs1650609306
|
|
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
|
|
|
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=)
|
rs2101154925
|
|
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=)
|
rs2101154929
|
|
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
|
|
|
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
|
|
|
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
|
|
|
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
|
|
|
NM_001368809.2(AMPD2):c.353+8C>A
|
|
|
NM_001368809.2(AMPD2):c.353+8C>T
|
rs376994583
|
|
NM_001368809.2(AMPD2):c.423-10C>T
|
rs1010263262
|
|
NM_001368809.2(AMPD2):c.423-6C>G
|
|
|
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
|
|
|
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=)
|
rs2101157468
|
|
NM_001368809.2(AMPD2):c.531+12G>A
|
rs765227765
|
|
NM_001368809.2(AMPD2):c.532-19C>T
|
|
|
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
|
|
|
NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)
|
|
|
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
|
|
|
NM_001368809.2(AMPD2):c.719-13C>T
|
|
|
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
|
|
|
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
|
|
|
NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)
|
|
|
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
|
|
|
NM_001368809.2(AMPD2):c.91+9G>A
|
rs750556724
|
|
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
|
|
|
NM_001368809.2(AMPD2):c.950+12G>C
|
|
|
NM_001368809.2(AMPD2):c.950+19C>A
|
|
|
NM_001368809.2(AMPD2):c.951-11_951-9del
|
rs2101163203
|
|
NM_001368809.2(AMPD2):c.951-7T>C
|
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=)
|
rs761587080
|
|
NM_001384732.1(CPLANE1):c.1522-16dup
|
rs370335300
|
|
NM_001384732.1(CPLANE1):c.2746+15_2746+16del
|
rs751625561
|
|
NM_001384732.1(CPLANE1):c.2746+16dup
|
rs751625561
|
|
NM_001384732.1(CPLANE1):c.3673-8_3673-4del
|
rs1163206555
|
|
NM_001384732.1(CPLANE1):c.699T>C (p.His233=)
|
rs762115051
|
|
NM_001384732.1(CPLANE1):c.8011+12del
|
rs774770884
|
|
NM_001384732.1(CPLANE1):c.8374-13G>T
|
rs771664716
|
|
NM_002449.5(MSX2):c.*1086dup
|
rs145784193
|
|
NM_002449.5(MSX2):c.177C>T (p.Pro59=)
|
|
|
NM_002449.5(MSX2):c.213G>T (p.Ser71=)
|
|
|
NM_002449.5(MSX2):c.22A>C (p.Asn8His)
|
rs1760735062
|
|
NM_002449.5(MSX2):c.235C>T (p.Leu79=)
|
|
|
NM_002449.5(MSX2):c.23A>G (p.Asn8Ser)
|
|
|
NM_002449.5(MSX2):c.357C>G (p.Pro119=)
|
|
|
NM_002449.5(MSX2):c.360C>T (p.Gly120=)
|
rs778509123
|
|
NM_002449.5(MSX2):c.379+11G>A
|
|
|
NM_002449.5(MSX2):c.379+13C>T
|
|
|
NM_002449.5(MSX2):c.379+8C>G
|
rs1382294618
|
|
NM_002449.5(MSX2):c.380-11C>G
|
|
|
NM_002449.5(MSX2):c.380-16T>A
|
|
|
NM_002449.5(MSX2):c.380-17CT[3]
|
|
|
NM_002449.5(MSX2):c.380-18C>G
|
rs200429446
|
|
NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)
|
|
|
NM_002449.5(MSX2):c.39C>T (p.Pro13=)
|
|
|
NM_002449.5(MSX2):c.465C>T (p.Leu155=)
|
|
|
NM_002449.5(MSX2):c.474G>A (p.Glu158=)
|
|
|
NM_002449.5(MSX2):c.501C>T (p.Leu167=)
|
|
|
NM_002449.5(MSX2):c.528C>T (p.Ser176=)
|
|
|
NM_002449.5(MSX2):c.591G>A (p.Ala197=)
|
|
|
NM_002449.5(MSX2):c.597A>G (p.Arg199=)
|
|
|
NM_002449.5(MSX2):c.762C>G (p.Leu254=)
|
|
|
NM_002449.5(MSX2):c.771G>A (p.Thr257=)
|
|
|
NM_002449.5(MSX2):c.798G>C (p.Leu266=)
|
|
|
NM_002601.4(PDE6D):c.117T>A (p.Ser39=)
|
rs2106261946
|
|
NM_002601.4(PDE6D):c.126T>G (p.Gly42=)
|
rs2106261935
|
|
NM_002601.4(PDE6D):c.139+14C>G
|
|
|
NM_002601.4(PDE6D):c.139+19T>C
|
|
|
NM_002601.4(PDE6D):c.139+20C>G
|
|
|
NM_002601.4(PDE6D):c.15C>T (p.Asp5=)
|
rs2106294236
|
|
NM_002601.4(PDE6D):c.183A>G (p.Arg61=)
|
rs2106261155
|
|
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
|
|
|
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
|
|
|
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
|
|
|
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
|
|
|
NM_002601.4(PDE6D):c.372-7C>A
|
rs2048664865
|
|
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
|
|
|
NM_002601.4(PDE6D):c.50+7G>T
|
rs2106294152
|
|
NM_002601.4(PDE6D):c.51-12A>G
|
|
|
NM_002601.4(PDE6D):c.51-19del
|
|
|
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
|
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr)
|
rs138117203
|
|
NM_004958.4(MTOR):c.1256A>G (p.His419Arg)
|
|
|
NM_004958.4(MTOR):c.2331+6A>G
|
rs761030701
|
|
NM_004958.4(MTOR):c.348C>T (p.Pro116=)
|
rs558389352
|
|
NM_004958.4(MTOR):c.5506G>A (p.Ala1836Thr)
|
rs180992388
|
|
NM_005027.4(PIK3R2):c.1010+11G>T
|
|
|
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)
|
|
|
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)
|
|
|
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)
|
|
|
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val)
|
|
|
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn)
|
rs2147952202
|
|
NM_005027.4(PIK3R2):c.1109+14C>T
|
|
|
NM_005027.4(PIK3R2):c.1109+7G>T
|
|
|
NM_005027.4(PIK3R2):c.1110-10C>A
|
rs1599977480
|
|
NM_005027.4(PIK3R2):c.1110-3C>A
|
|
|
NM_005027.4(PIK3R2):c.1110-4C>T
|
rs948209108
|
|
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
|
|
|
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
|
|
|
NM_005027.4(PIK3R2):c.1290+12C>T
|
|
|
NM_005027.4(PIK3R2):c.1290+19G>A
|
|
|
NM_005027.4(PIK3R2):c.1291-11C>T
|
|
|
NM_005027.4(PIK3R2):c.1291-15G>A
|
rs767807584
|
|
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)
|
|
|
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)
|
|
|
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=)
|
rs2147953748
|
|
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)
|
|
|
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)
|
|
|
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)
|
|
|
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)
|
|
|
NM_005027.4(PIK3R2):c.1559+11C>T
|
|
|
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
|
|
|
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
|
|
|
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=)
|
|
|
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)
|
|
|
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)
|
|
|
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=)
|
rs557476940
|
|
NM_005027.4(PIK3R2):c.1808+11G>C
|
|
|
NM_005027.4(PIK3R2):c.1809-6C>T
|
|
|
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)
|
|
|
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)
|
|
|
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=)
|
rs201568661
|
|
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)
|
|
|
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)
|
|
|
NM_005027.4(PIK3R2):c.1979+12G>A
|
|
|
NM_005027.4(PIK3R2):c.1980-4A>C
|
|
|
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)
|
|
|
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp)
|
rs2147960455
|
|
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=)
|
rs372448001
|
|
NM_005027.4(PIK3R2):c.2085C>T (p.His695=)
|
|
|
NM_005027.4(PIK3R2):c.2094C>T (p.His698=)
|
|
|
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)
|
|
|
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)
|
|
|
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)
|
|
|
NM_005027.4(PIK3R2):c.322+18G>C
|
|
|
NM_005027.4(PIK3R2):c.322+18G>T
|
rs201235026
|
|
NM_005027.4(PIK3R2):c.323-8C>T
|
|
|
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)
|
|
|
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)
|
|
|
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)
|
|
|
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)
|
|
|
NM_005027.4(PIK3R2):c.415+17C>T
|
|
|
NM_005027.4(PIK3R2):c.415+8C>T
|
|
|
NM_005027.4(PIK3R2):c.416-5C>G
|
|
|
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=)
|
rs767495472
|
|
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=)
|
rs2147949807
|
|
NM_005027.4(PIK3R2):c.466+11G>T
|
rs376952388
|
|
NM_005027.4(PIK3R2):c.466+17A>G
|
|
|
NM_005027.4(PIK3R2):c.466+20G>C
|
|
|
NM_005027.4(PIK3R2):c.467-5C>T
|
|
|
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)
|
|
|
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
|
|
|
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
|
|
|
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
|
|
|
NM_005027.4(PIK3R2):c.598+15T>C
|
|
|
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
|
|
|
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
|
|
|
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=)
|
rs2043744166
|
|
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
|
|
|
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
|
|
|
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
|
|
|
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
|
|
|
NM_005027.4(PIK3R2):c.815+5GGGGC[3]
|
rs1008971604
|
|
NM_005027.4(PIK3R2):c.815+7G>A
|
rs2147950994
|
|
NM_005027.4(PIK3R2):c.816-9C>T
|
|
|
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=)
|
|
|
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=)
|
|
|
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)
|
|
|
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)
|
|
|
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
|
|
|
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)
|
|
|
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)
|
|
|
NM_005465.7(AKT3):c.1101A>C (p.Arg367=)
|
rs2148466016
|
|
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
|
|
|
NM_005465.7(AKT3):c.1252-10C>G
|
rs2148363624
|
|
NM_005465.7(AKT3):c.1252-20C>G
|
|
|
NM_005465.7(AKT3):c.1252-20_1252-19del
|
|
|
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr)
|
rs2148363374
|
|
NM_005465.7(AKT3):c.172+13T>A
|
|
|
NM_005465.7(AKT3):c.273T>C (p.Thr91=)
|
rs1057522821
|
|
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
|
|
|
NM_005465.7(AKT3):c.429+15C>T
|
|
|
NM_005465.7(AKT3):c.430-19T>C
|
|
|
NM_005465.7(AKT3):c.46+18C>G
|
|
|
NM_005465.7(AKT3):c.47-4G>A
|
|
|
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
|
|
|
NM_005465.7(AKT3):c.562-17C>T
|
|
|
NM_005465.7(AKT3):c.627+7G>A
|
|
|
NM_005465.7(AKT3):c.720G>A (p.Glu240=)
|
rs1204640048
|
|
NM_005465.7(AKT3):c.820-10T>A
|
rs370193515
|
|
NM_005465.7(AKT3):c.820-12C>G
|
rs1558618010
|
|
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
|
|
|
NM_005465.7(AKT3):c.948+9C>A
|
rs776361820
|
|
NM_005465.7(AKT3):c.948+9C>T
|
|
|
NM_005465.7(AKT3):c.949-18T>C
|
|
|
NM_006416.5(SLC35A1):c.*294dup
|
rs11432150
|
|
NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)
|
|
|
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
|
|
|
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
|
|
|
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
|
|
|
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
|
|
|
NM_014846.4(WASHC5):c.1151-16C>T
|
|
|
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
|
|
|
NM_014846.4(WASHC5):c.1278+13G>T
|
|
|
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
|
|
|
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=)
|
rs763975296
|
|
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)
|
rs886062653
|
|
NM_014846.4(WASHC5):c.1409-8A>C
|
rs878854986
|
|
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
|
|
|
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
|
|
|
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
|
|
|
NM_014846.4(WASHC5):c.1522-20A>G
|
|
|
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=)
|
rs1340926359
|
|
NM_014846.4(WASHC5):c.1688+10del
|
rs757113799
|
|
NM_014846.4(WASHC5):c.1689-19G>A
|
|
|
NM_014846.4(WASHC5):c.1764+14A>G
|
|
|
NM_014846.4(WASHC5):c.1765-19T>A
|
|
|
NM_014846.4(WASHC5):c.1765-3dup
|
|
|
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
|
|
|
NM_014846.4(WASHC5):c.187-18T>C
|
|
|
NM_014846.4(WASHC5):c.1875+14C>T
|
|
|
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
|
|
|
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
|
|
|
NM_014846.4(WASHC5):c.2016+10C>G
|
rs1260941212
|
|
NM_014846.4(WASHC5):c.2017-16T>A
|
|
|
NM_014846.4(WASHC5):c.2017-20C>A
|
rs759179193
|
|
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
|
|
|
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
|
|
|
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)
|
rs886062652
|
|
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=)
|
rs955321507
|
|
NM_014846.4(WASHC5):c.2200-18G>A
|
|
|
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=)
|
rs376307168
|
|
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
|
|
|
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=)
|
rs140742485
|
|
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=)
|
rs760598224
|
|
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
|
|
|
NM_014846.4(WASHC5):c.2668-18G>A
|
|
|
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
|
|
|
NM_014846.4(WASHC5):c.2771-17A>G
|
|
|
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
|
|
|
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
|
|
|
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
|
|
|
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
|
|
|
NM_014846.4(WASHC5):c.2955-7C>T
|
rs767591968
|
|
NM_014846.4(WASHC5):c.3084+18A>G
|
|
|
NM_014846.4(WASHC5):c.3085-8C>T
|
|
|
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
|
|
|
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=)
|
rs777978845
|
|
NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=)
|
rs200733182
|
|
NM_014846.4(WASHC5):c.332+11A>G
|
rs755037747
|
|
NM_014846.4(WASHC5):c.333-20_333-19inv
|
|
|
NM_014846.4(WASHC5):c.3335+9G>T
|
|
|
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=)
|
rs2129947881
|
|
NM_014846.4(WASHC5):c.3424-19_3424-15del
|
|
|
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
|
|
|
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
|
|
|
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)
|
rs148562491
|
|
NM_014846.4(WASHC5):c.450A>G (p.Leu150=)
|
rs778468473
|
|
NM_014846.4(WASHC5):c.498G>A (p.Leu166=)
|
rs1586388281
|
|
NM_014846.4(WASHC5):c.666C>T (p.Ile222=)
|
rs367837906
|
|
NM_014846.4(WASHC5):c.712-13C>G
|
|
|
NM_014846.4(WASHC5):c.712-15G>A
|
|
|
NM_014846.4(WASHC5):c.712-16C>T
|
|
|
NM_014846.4(WASHC5):c.712-7A>G
|
|
|
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
|
|
|
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
|
|
|
NM_014846.4(WASHC5):c.93A>G (p.Arg31=)
|
rs2130220935
|
|
NM_014846.4(WASHC5):c.96C>G (p.Leu32=)
|
rs1060504698
|
|
NM_014846.4(WASHC5):c.978+20C>T
|
|
|
NM_014846.4(WASHC5):c.979-6G>A
|
|
|
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)
|
|
|
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_015631.6(TCTN3):c.1008C>A (p.Ile336=)
|
|
|
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=)
|
rs747888353
|
|
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=)
|
rs2097946417
|
|
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
|
|
|
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
|
|
|
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
|
|
|
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=)
|
rs2139742208
|
|
NM_015631.6(TCTN3):c.1096-12del
|
|
|
NM_015631.6(TCTN3):c.1096-17C>G
|
|
|
NM_015631.6(TCTN3):c.1096-17C>T
|
|
|
NM_015631.6(TCTN3):c.1096-5T>G
|
|
|
NM_015631.6(TCTN3):c.114G>T (p.Leu38=)
|
rs1027956965
|
|
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=)
|
rs759892719
|
|
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=)
|
rs759892719
|
|
NM_015631.6(TCTN3):c.1203+18G>A
|
rs1353637039
|
|
NM_015631.6(TCTN3):c.1203+20G>A
|
|
|
NM_015631.6(TCTN3):c.1204-14C>T
|
|
|
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
|
|
|
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=)
|
rs368389310
|
|
NM_015631.6(TCTN3):c.1298+12C>T
|
|
|
NM_015631.6(TCTN3):c.1298+8T>C
|
|
|
NM_015631.6(TCTN3):c.1299-15G>A
|
rs1589614065
|
|
NM_015631.6(TCTN3):c.1299-17A>G
|
|
|
NM_015631.6(TCTN3):c.1299-18C>T
|
rs2097944406
|
|
NM_015631.6(TCTN3):c.1299-4A>G
|
|
|
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=)
|
rs2139737404
|
|
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
|
|
|
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
|
|
|
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
|
|
|
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
|
|
|
NM_015631.6(TCTN3):c.138C>T (p.Thr46=)
|
rs887435654
|
|
NM_015631.6(TCTN3):c.1440C>T (p.His480=)
|
rs753883610
|
|
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
|
|
|
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=)
|
rs2139731591
|
|
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
|
|
|
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
|
|
|
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=)
|
rs201367852
|
|
NM_015631.6(TCTN3):c.1590+14C>T
|
|
|
NM_015631.6(TCTN3):c.1590+15A>T
|
rs781078051
|
|
NM_015631.6(TCTN3):c.1590+8A>G
|
|
|
NM_015631.6(TCTN3):c.1591-7C>G
|
|
|
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
|
|
|
NM_015631.6(TCTN3):c.159G>T (p.Ala53=)
|
rs540555381
|
|
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
|
|
|
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
|
|
|
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
|
|
|
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
|
|
|
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=)
|
rs2097923995
|
|
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
|
|
|
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
|
|
|
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
|
|
|
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=)
|
rs2097923946
|
|
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
|
|
|
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
|
|
|
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
|
|
|
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
|
|
|
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
|
|
|
NM_015631.6(TCTN3):c.18C>G (p.Leu6=)
|
rs879694012
|
|
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
|
|
|
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
|
|
|
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
|
|
|
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
|
|
|
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
|
|
|
NM_015631.6(TCTN3):c.256+11A>G
|
|
|
NM_015631.6(TCTN3):c.256+14T>C
|
|
|
NM_015631.6(TCTN3):c.257-13C>G
|
|
|
NM_015631.6(TCTN3):c.257-13C>T
|
rs768606622
|
|
NM_015631.6(TCTN3):c.257-22_257-19del
|
rs1426583967
|
|
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
|
|
|
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
|
|
|
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
|
|
|
NM_015631.6(TCTN3):c.27G>A (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.27G>T (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
|
|
|
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
|
|
|
NM_015631.6(TCTN3):c.380+16C>A
|
|
|
NM_015631.6(TCTN3):c.380+16C>T
|
|
|
NM_015631.6(TCTN3):c.381-13T>A
|
|
|
NM_015631.6(TCTN3):c.381-17C>T
|
rs1317078515
|
|
NM_015631.6(TCTN3):c.381-18C>T
|
|
|
NM_015631.6(TCTN3):c.381-9T>C
|
|
|
NM_015631.6(TCTN3):c.435G>A (p.Pro145=)
|
rs769335959
|
|
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
|
|
|
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
|
|
|
NM_015631.6(TCTN3):c.489T>C (p.His163=)
|
|
|
NM_015631.6(TCTN3):c.500-14A>T
|
|
|
NM_015631.6(TCTN3):c.500-19del
|
|
|
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=)
|
rs2139750906
|
|
NM_015631.6(TCTN3):c.51C>G (p.Pro17=)
|
rs1482900802
|
|
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
|
|
|
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
|
|
|
NM_015631.6(TCTN3):c.615A>G (p.Pro205=)
|
rs1247615743
|
|
NM_015631.6(TCTN3):c.628-10T>C
|
|
|
NM_015631.6(TCTN3):c.628-12T>C
|
|
|
NM_015631.6(TCTN3):c.628-14T>C
|
|
|
NM_015631.6(TCTN3):c.628-4T>C
|
rs1321301372
|
|
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
|
|
|
NM_015631.6(TCTN3):c.675C>T (p.Ser225=)
|
rs2097949322
|
|
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
|
|
|
NM_015631.6(TCTN3):c.736+18G>A
|
|
|
NM_015631.6(TCTN3):c.736+19T>C
|
|
|
NM_015631.6(TCTN3):c.737-18del
|
|
|
NM_015631.6(TCTN3):c.770G>A (p.Arg257His)
|
rs758733887
|
|
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
|
|
|
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
|
|
|
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
|
|
|
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
|
|
|
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
|
|
|
NM_015631.6(TCTN3):c.847T>C (p.Leu283=)
|
rs2139748578
|
|
NM_015631.6(TCTN3):c.852+7G>A
|
rs1275344078
|
|
NM_015631.6(TCTN3):c.888+13T>C
|
|
|
NM_015631.6(TCTN3):c.888+14G>T
|
rs2139747034
|
|
NM_015631.6(TCTN3):c.888+18C>A
|
|
|
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)
|
rs546805063
|
|
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
|
|
|
NM_015631.6(TCTN3):c.969+17C>T
|
rs2139744560
|
|
NM_015631.6(TCTN3):c.969+18A>C
|
|
|
NM_015631.6(TCTN3):c.969+19_969+37del
|
|
|
NM_015631.6(TCTN3):c.970-15C>A
|
rs773472275
|
|
NM_015631.6(TCTN3):c.970-15C>G
|
rs773472275
|
|
NM_015631.6(TCTN3):c.993T>C (p.Asn331=)
|
rs1273105227
|
|
NM_016042.4(EXOSC3):c.*571TAT[1]
|
rs34753153
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
NM_016464.5(TMEM138):c.105T>C (p.Pro35=)
|
rs1370730016
|
|
NM_016464.5(TMEM138):c.128+19T>G
|
|
|
NM_016464.5(TMEM138):c.129-10A>G
|
|
|
NM_016464.5(TMEM138):c.129-10dup
|
rs2135157730
|
|
NM_016464.5(TMEM138):c.129-19C>T
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)
|
rs376500080
|
|
NM_016464.5(TMEM138):c.195C>T (p.Val65=)
|
rs2135158008
|
|
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)
|
rs2135158047
|
|
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
|
|
|
NM_016464.5(TMEM138):c.231G>A (p.Lys77=)
|
rs2135158146
|
|
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
|
|
|
NM_016464.5(TMEM138):c.288T>C (p.His96=)
|
|
|
NM_016464.5(TMEM138):c.300+13G>A
|
rs2135158448
|
|
NM_016464.5(TMEM138):c.301-12C>T
|
|
|
NM_016464.5(TMEM138):c.301-13A>G
|
|
|
NM_016464.5(TMEM138):c.301-16C>T
|
|
|
NM_016464.5(TMEM138):c.301-18A>G
|
|
|
NM_016464.5(TMEM138):c.303C>T (p.Asn101=)
|
rs2135162983
|
|
NM_016464.5(TMEM138):c.377-11C>T
|
rs749034092
|
|
NM_016464.5(TMEM138):c.377-19T>C
|
|
|
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
|
|
|
NM_016464.5(TMEM138):c.435C>T (p.His145=)
|
|
|
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
|
|
|
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
|
|
|
NM_016955.3(SEPSECS):c.-147dup
|
rs536637971
|
|
NM_016955.4(SEPSECS):c.*236_*237insTTT
|
rs140928773
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)
|
rs536647518
|
|
NM_018082.6(POLR3B):c.1776A>T (p.Leu592=)
|
rs201223367
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
|
|
NM_018718.3(CEP41):c.145+16G>C
|
|
|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
|
|
NM_018718.3(CEP41):c.33+20C>A
|
|
|
NM_018718.3(CEP41):c.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
NM_018718.3(CEP41):c.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|
NM_020320.5(RARS2):c.1587-10C>G
|
rs531179961
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
NM_021926.4(ALX4):c.*2861C>A
|
rs192487688
|
|
NM_021926.4(ALX4):c.*424dup
|
rs113592690
|
|
NM_021926.4(ALX4):c.*804AAG[1]
|
rs149719812
|
|
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=)
|
rs1669276096
|
|
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=)
|
rs2101075850
|
|
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=)
|
rs1669111834
|
|
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=)
|
rs2101074559
|
|
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=)
|
rs574323645
|
|
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=)
|
rs532282272
|
|
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=)
|
rs532282272
|
|
NM_022914.2(ACD):c.147C>T (p.Gly49=)
|
|
|
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_025265.4(TSEN2):c.-200C>T
|
rs540294443
|
|
NM_025265.4(TSEN2):c.-297C>T
|
rs190941859
|
|
NM_025265.4(TSEN2):c.-373C>T
|
rs550947754
|
|
NM_025265.4(TSEN2):c.-374G>A
|
rs28657473
|
|
NM_138959.3(VANGL1):c.*3762CAAA[2]
|
rs144395099
|
|
NM_138959.3(VANGL1):c.*4089del
|
rs138659832
|
|
NM_138959.3(VANGL1):c.*4788C>G
|
rs148437823
|
|
NM_138959.3(VANGL1):c.*5008T>A
|
rs117347999
|
|
NM_138959.3(VANGL1):c.*6763dup
|
rs5777244
|
|
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_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|