NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)
|
rs41298896
|
0.01123
|
NM_021939.4(FKBP10):c.917+53G>T
|
rs141387386
|
0.00927
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_001195129.2(PRSS56):c.1400G>T (p.Arg467Leu)
|
rs554826646
|
0.00130
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys)
|
rs200040003
|
0.00037
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr)
|
rs533933463
|
0.00014
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile)
|
rs770561064
|
0.00007
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001701.4(BAAT):c.761C>T (p.Thr254Met)
|
rs768526453
|
0.00006
|
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)
|
rs766589610
|
0.00006
|
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser)
|
rs368098126
|
0.00006
|
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)
|
rs786205473
|
0.00005
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)
|
rs750969198
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)
|
rs751931568
|
0.00004
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His)
|
rs539275646
|
0.00003
|
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu)
|
rs769211787
|
0.00003
|
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)
|
rs786205519
|
0.00003
|
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn)
|
rs776996552
|
0.00002
|
NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys)
|
rs759157320
|
0.00002
|
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)
|
rs542184779
|
0.00002
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)
|
rs749056160
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter)
|
rs773734224
|
0.00002
|
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)
|
rs752274637
|
0.00002
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter)
|
rs377074720
|
0.00002
|
NM_000215.4(JAK3):c.308G>A (p.Arg103His)
|
rs774202259
|
0.00001
|
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro)
|
rs786205501
|
0.00001
|
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)
|
rs786205604
|
0.00001
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000489.6(ATRX):c.2102G>A (p.Arg701His)
|
rs797044563
|
0.00001
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys)
|
rs786205544
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr)
|
rs786205539
|
0.00001
|
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His)
|
rs765512476
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)
|
rs753625117
|
0.00001
|
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)
|
rs771414481
|
0.00001
|
NM_001353214.3(DYM):c.422G>A (p.Ser141Asn)
|
rs148059981
|
0.00001
|
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)
|
rs757139660
|
0.00001
|
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter)
|
rs786205554
|
0.00001
|
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)
|
rs753824908
|
0.00001
|
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
|
rs786205550
|
0.00001
|
NM_003835.4(RGS9):c.704C>T (p.Ala235Val)
|
rs786205509
|
0.00001
|
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn)
|
rs786205497
|
0.00001
|
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
|
rs529829552
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)
|
rs757094189
|
0.00001
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
NM_006204.4(PDE6C):c.939+5G>A
|
rs374805348
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)
|
rs786205493
|
0.00001
|
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys)
|
rs786205461
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_018451.5(CENPJ):c.133C>T (p.Arg45Ter)
|
rs786205481
|
0.00001
|
NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp)
|
rs373890183
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met)
|
rs372108744
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)
|
rs786205551
|
0.00001
|
NM_024757.5(EHMT1):c.611G>A (p.Arg204His)
|
rs786205601
|
0.00001
|
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)
|
rs786205498
|
0.00001
|
NM_138694.4(PKHD1):c.2978A>G (p.His993Arg)
|
rs786205582
|
0.00001
|
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys)
|
rs786205577
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000070.3(CAPN3):c.2381-1G>A
|
rs786205491
|
|
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter)
|
rs786205490
|
|
NM_000074.3(CD40LG):c.506A>G (p.Tyr169Cys)
|
rs786205606
|
|
NM_000074.3(CD40LG):c.719_720del (p.Asn240fs)
|
rs786205607
|
|
NM_000081.4(LYST):c.6694G>T (p.Gly2232Ter)
|
rs748659198
|
|
NM_000082.4(ERCC8):c.1016G>A (p.Cys339Tyr)
|
rs786205573
|
|
NM_000088.4(COL1A1):c.1002+2T>A
|
rs786205507
|
|
NM_000088.4(COL1A1):c.2354G>A (p.Gly785Asp)
|
rs786205506
|
|
NM_000088.4(COL1A1):c.2668-11T>G
|
rs786205505
|
|
NM_000088.4(COL1A1):c.3622A>T (p.Lys1208Ter)
|
rs786205504
|
|
NM_000089.4(COL1A2):c.1135G>A (p.Gly379Arg)
|
rs786205587
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000092.5(COL4A4):c.3577+3A>T
|
rs786205548
|
|
NM_000094.4(COL7A1):c.4864G>C (p.Gly1622Arg)
|
rs786205561
|
|
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)
|
rs786205593
|
|
NM_000180.4(GUCY2D):c.416T>C (p.Leu139Pro)
|
rs786205499
|
|
NM_000180.4(GUCY2D):c.527T>C (p.Leu176Pro)
|
rs786205500
|
|
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)
|
rs786205464
|
|
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)
|
rs786205517
|
|
NM_000228.3(LAMB3):c.1977-1G>A
|
rs786205451
|
|
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His)
|
rs786205588
|
|
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu)
|
rs367990952
|
|
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala)
|
rs786205470
|
|
NM_000258.3(MYL3):c.482-10C>T
|
rs567723663
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.616C>T (p.Gln206Ter)
|
rs786205502
|
|
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter)
|
rs786205580
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000326.5(RLBP1):c.773T>G (p.Leu258Trp)
|
rs786205494
|
|
NM_000329.3(RPE65):c.1366del (p.Glu456fs)
|
rs786205444
|
|
NM_000335.5(SCN5A):c.3184dup (p.Asp1062fs)
|
rs1553699607
|
|
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)
|
rs793888523
|
|
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)
|
rs786205447
|
|
NM_000350.3(ABCA4):c.4852T>A (p.Trp1618Arg)
|
rs786205446
|
|
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)
|
rs786205445
|
|
NM_000359.3(TGM1):c.977_978del (p.Ser326fs)
|
rs786205485
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
|
NM_000426.4(LAMA2):c.1762del (p.Ala588fs)
|
rs786205654
|
|
NM_000428.3(LTBP2):c.2428+5G>C
|
rs786205624
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly)
|
rs772340017
|
|
NM_000448.3(RAG1):c.555del (p.Lys186fs)
|
rs786205615
|
|
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter)
|
rs786205655
|
|
NM_000466.3(PEX1):c.2894T>C (p.Leu965Pro)
|
rs786205586
|
|
NM_000466.3(PEX1):c.657_660del (p.Ser220fs)
|
rs786205656
|
|
NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del)
|
rs786205658
|
|
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)
|
rs786205605
|
|
NM_000536.4(RAG2):c.1403_1406del (p.His468fs)
|
rs786205616
|
|
NM_000536.4(RAG2):c.374_375del (p.Thr125fs)
|
rs786205469
|
|
NM_000536.4(RAG2):c.547T>C (p.Phe183Leu)
|
rs786205468
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
NM_000554.6(CRX):c.695del (p.Pro232fs)
|
rs786205630
|
|
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)
|
rs786205528
|
|
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp)
|
rs779187338
|
|
NM_001005242.3(PKP2):c.1719G>C (p.Gln573His)
|
rs786205476
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg)
|
rs786205456
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)
|
rs786205454
|
|
NM_001040142.2(SCN2A):c.1676_1679del (p.Ser558_Leu559insTer)
|
rs786205635
|
|
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe)
|
rs786205597
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile)
|
rs786205489
|
|
NM_001098484.3(SLC4A4):c.842A>T (p.Asp281Val)
|
rs786205569
|
|
NM_001101.5(ACTB):c.217C>G (p.His73Asp)
|
rs786205585
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001122769.3(LCA5):c.1020del (p.Lys340fs)
|
rs786205653
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
NM_001127671.2(LIFR):c.1121+1G>A
|
rs786205647
|
|
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs)
|
rs786205632
|
|
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu)
|
rs786205525
|
|
NM_001130987.2(DYSF):c.92-1G>A
|
rs786205524
|
|
NM_001142800.2(EYS):c.179del (p.Leu60fs)
|
rs786205652
|
|
NM_001148.6(ANK2):c.7844C>A (p.Pro2615His)
|
rs786205571
|
|
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)
|
rs786205595
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
NM_001174150.2(ARL13B):c.765T>A (p.Asn255Lys)
|
rs786205563
|
|
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs)
|
rs797044565
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001267550.2(TTN):c.32470+3A>G
|
rs786205543
|
|
NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val)
|
rs786205542
|
|
NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu)
|
rs786205541
|
|
NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly)
|
rs763722868
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.88613del (p.Gly29538fs)
|
rs786205639
|
|
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)
|
rs786205538
|
|
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr)
|
rs786205537
|
|
NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr)
|
rs786205536
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
NM_001298.3(CNGA3):c.1457G>A (p.Cys486Tyr)
|
rs786205531
|
|
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)
|
rs786205532
|
|
NM_001353214.3(DYM):c.2025+1G>A
|
rs786205511
|
|
NM_001353214.3(DYM):c.272C>G (p.Ser91Ter)
|
rs786205513
|
|
NM_001353214.3(DYM):c.946+1G>A
|
rs786205512
|
|
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter)
|
rs786205515
|
|
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter)
|
rs786205467
|
|
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)
|
rs786205575
|
|
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter)
|
rs786205584
|
|
NM_001378454.1(ALMS1):c.11873-2A>T
|
rs786205527
|
|
NM_001378454.1(ALMS1):c.1671del (p.Pro558fs)
|
rs786205633
|
|
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.764G>A (p.Arg255Lys)
|
rs786205526
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter)
|
rs786205557
|
|
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val)
|
rs786205477
|
|
NM_001848.3(COL6A1):c.128A>C (p.Asp43Ala)
|
rs786205555
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)
|
rs797044566
|
|
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg)
|
rs786205559
|
|
NM_002076.4(GNS):c.83del (p.Leu28fs)
|
rs786205619
|
|
NM_002185.5(IL7R):c.636T>G (p.Tyr212Ter)
|
rs786205572
|
|
NM_002185.5(IL7R):c.885del (p.Asn295fs)
|
rs786205646
|
|
NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg)
|
rs786205480
|
|
NM_002292.4(LAMB2):c.374A>C (p.Gln125Pro)
|
rs786205643
|
|
NM_002292.4(LAMB2):c.5056G>T (p.Glu1686Ter)
|
rs786205562
|
|
NM_002471.4(MYH6):c.1203C>A (p.Cys401Ter)
|
rs786205484
|
|
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln)
|
rs786205449
|
|
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe)
|
rs786205594
|
|
NM_002700.3(POU4F3):c.848C>T (p.Ala283Val)
|
rs759091617
|
|
NM_002860.4(ALDH18A1):c.332A>G (p.Glu111Gly)
|
rs786205614
|
|
NM_003322.6(TULP1):c.180del (p.Lys61fs)
|
rs786205650
|
|
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter)
|
rs786205478
|
|
NM_003680.4(YARS1):c.789C>A (p.Phe263Leu)
|
rs786205442
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004281.4(BAG3):c.1630G>C (p.Asp544His)
|
rs786205466
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
NM_004380.3(CREBBP):c.4890+2T>C
|
rs786205495
|
|
NM_004431.5(EPHA2):c.2007G>T (p.Gln669His)
|
rs786205441
|
|
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)
|
rs786205518
|
|
NM_004744.5(LRAT):c.233_242del (p.Leu78fs)
|
rs786205644
|
|
NM_004817.4(TJP2):c.1001del (p.Arg334fs)
|
rs786205659
|
|
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)
|
rs786205583
|
|
NM_005045.4(RELN):c.7030_7031del (p.Met2344fs)
|
rs786205657
|
|
NM_005199.5(CHRNG):c.55+1G>A
|
rs786205549
|
|
NM_005208.5(CRYBA1):c.588_591del (p.Arg196fs)
|
rs786205628
|
|
NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr)
|
rs786205486
|
|
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile)
|
rs786205514
|
|
NM_005633.4(SOS1):c.224A>T (p.Gln75Leu)
|
rs786205522
|
|
NM_005804.4(DDX39A):c.677T>A (p.Phe226Tyr)
|
rs786205516
|
|
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly)
|
rs786205479
|
|
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)
|
rs587779355
|
|
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
|
rs151020551
|
|
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser)
|
rs786205462
|
|
NM_006204.4(PDE6C):c.1946T>C (p.Ile649Thr)
|
rs786205463
|
|
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)
|
rs750542962
|
|
NM_006269.2(RP1):c.607G>A (p.Gly203Arg)
|
rs786205589
|
|
NM_006343.3(MERTK):c.1604+2T>G
|
rs786205534
|
|
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)
|
rs786205535
|
|
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)
|
rs786205533
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs)
|
rs786205649
|
|
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro)
|
rs786205546
|
|
NM_006915.3(RP2):c.2T>C (p.Met1Thr)
|
rs797044561
|
|
NM_006946.4(SPTBN2):c.3791_3792del (p.Gln1264fs)
|
rs786205617
|
|
NM_006953.4(UPK3A):c.53-1G>A
|
rs786205558
|
|
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro)
|
rs747523570
|
|
NM_013382.7(POMT2):c.1603del (p.Gln535fs)
|
rs786205625
|
|
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)
|
rs786205529
|
|
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)
|
rs761628767
|
|
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)
|
rs577173144
|
|
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter)
|
rs201406974
|
|
NM_014780.5(CUL7):c.263del (p.Val88fs)
|
rs786205651
|
|
NM_014780.5(CUL7):c.4529G>T (p.Gly1510Val)
|
rs786205581
|
|
NM_014967.5(FAN1):c.93T>G (p.Ile31Met)
|
rs781134478
|
|
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter)
|
rs780389591
|
|
NM_015338.6(ASXL1):c.2989G>C (p.Glu997Gln)
|
rs786205552
|
|
NM_015340.4(LARS2):c.457A>C (p.Asn153His)
|
rs786205560
|
|
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)
|
rs786205487
|
|
NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys)
|
rs786205565
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro)
|
rs766305807
|
|
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro)
|
rs786205600
|
|
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro)
|
rs786205599
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.5064del (p.Val1689fs)
|
rs786205609
|
|
NM_018249.6(CDK5RAP2):c.140del (p.Val47fs)
|
rs786205660
|
|
NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)
|
rs730882202
|
|
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter)
|
rs786205590
|
|
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu)
|
rs786205591
|
|
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter)
|
rs786205510
|
|
NM_020184.4(CNNM4):c.734C>T (p.Ser245Leu)
|
rs786205530
|
|
NM_020297.4(ABCC9):c.3520C>T (p.His1174Tyr)
|
rs786205475
|
|
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)
|
rs786205623
|
|
NM_020634.3(GDF3):c.232G>C (p.Val78Leu)
|
rs780787386
|
|
NM_020661.4(AICDA):c.169G>A (p.Val57Met)
|
rs786205474
|
|
NM_020686.6(ABAT):c.709G>A (p.Asp237Asn)
|
rs786205496
|
|
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)
|
rs587777132
|
|
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter)
|
rs750872744
|
|
NM_021939.4(FKBP10):c.354del (p.Ile118fs)
|
rs797044559
|
|
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)
|
rs786205612
|
|
NM_022356.4(P3H1):c.1170+9G>A
|
rs786205443
|
|
NM_022455.5(NSD1):c.1824del (p.Lys608fs)
|
rs786205648
|
|
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)
|
rs786205576
|
|
NM_024101.7(MLPH):c.987del (p.Lys330fs)
|
rs786205641
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024757.5(EHMT1):c.2382+1697T>G
|
rs786205602
|
|
NM_024782.3(NHEJ1):c.390+1G>C
|
rs786205547
|
|
NM_024809.5(TCTN2):c.254_255del (p.Val85fs)
|
rs786205622
|
|
NM_025000.4(DCAF17):c.322-14del
|
rs201494527
|
|
NM_025000.4(DCAF17):c.459-7_499del
|
rs786205638
|
|
NM_025074.7(FRAS1):c.8098+2T>A
|
rs786205570
|
|
NM_025074.7(FRAS1):c.8403_8404del (p.Ser2802fs)
|
rs876661304
|
|
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer)
|
rs786205620
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)
|
rs751386429
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
NM_025193.4(HSD3B7):c.694+2del
|
rs786205627
|
|
NM_031433.4(MFRP):c.574G>C (p.Glu192Gln)
|
rs786205472
|
|
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)
|
rs786205471
|
|
NM_032193.4(RNASEH2C):c.478C>T (p.Gln160Ter)
|
rs771013055
|
|
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe)
|
rs786205457
|
|
NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter)
|
rs786205459
|
|
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu)
|
rs763399323
|
|
NM_033100.4(CDHR1):c.709del (p.Glu237fs)
|
rs786205613
|
|
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val)
|
rs786205566
|
|
NM_052989.3(IFT122):c.2375+2T>C
|
rs786205567
|
|
NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter)
|
rs786205578
|
|
NM_130466.4(UBE3B):c.1689CTC[1] (p.Ser565del)
|
rs786205621
|
|
NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter)
|
rs786205523
|
|
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)
|
rs730882205
|
|
NM_139276.3(STAT3):c.1868G>T (p.Trp623Leu)
|
rs786205503
|
|
NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu)
|
rs730882201
|
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636
|
|
NM_152384.3(BBS5):c.952GAA[1] (p.Glu319del)
|
rs786205637
|
|
NM_152722.5(HEPACAM):c.757_759del (p.Leu253del)
|
rs786205618
|
|
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)
|
rs730880295
|
|
NM_153704.6(TMEM67):c.1413-2A>G
|
rs786205608
|
|
NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu)
|
rs786205592
|
|
NM_153717.3(EVC):c.770T>A (p.Leu257Gln)
|
rs750565190
|
|
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys)
|
rs786205492
|
|
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)
|
rs756455049
|
|
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)
|
rs762826555
|
|
NM_182914.3(SYNE2):c.4462C>T (p.Gln1488Ter)
|
rs786205488
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)
|
rs786205450
|
|
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)
|
rs752212470
|
|
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs)
|
rs786205610
|
|
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)
|
rs786205545
|
|
NM_203447.4(DOCK8):c.1797+61A>C
|
rs786205596
|
|
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter)
|
rs786205452
|
|
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)
|
rs786205460
|
|
Single allele
|
rs1555502637
|
|