ClinVar Miner

List of variants reported as likely benign for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2405
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HGVS dbSNP gnomAD frequency
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

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