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_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_152385.4(CLHC1):c.1145G>A (p.Arg382Gln)
|
rs144133542
|
0.00115
|
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val)
|
rs137939966
|
0.00086
|
NM_017553.3(INO80):c.3737G>A (p.Arg1246Gln)
|
rs199722402
|
0.00086
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys)
|
rs141086610
|
0.00048
|
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_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)
|
rs140119177
|
0.00023
|
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_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)
|
rs28937869
|
0.00009
|
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_138383.3(MTSS2):c.1790C>T (p.Thr597Met)
|
rs531163149
|
0.00007
|
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln)
|
rs141094096
|
0.00006
|
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_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)
|
rs751375244
|
0.00006
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
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_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
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_017553.3(INO80):c.1501T>C (p.Ser501Pro)
|
rs730882226
|
0.00004
|
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)
|
rs751931568
|
0.00004
|
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)
|
rs201037487
|
0.00004
|
NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)
|
rs730882212
|
0.00004
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)
|
rs886039806
|
0.00003
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
NM_003157.6(NEK4):c.2017dup (p.Ile673fs)
|
rs770418305
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His)
|
rs539275646
|
0.00003
|
NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)
|
rs201118996
|
0.00003
|
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu)
|
rs769211787
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)
|
rs786205519
|
0.00003
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
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_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
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_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
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_022140.5(EPB41L4A):c.1298C>T (p.Ser433Leu)
|
rs730882207
|
0.00002
|
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)
|
rs730882241
|
0.00002
|
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
|
rs200133991
|
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_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys)
|
rs369082457
|
0.00002
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
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_001079514.3(UBN1):c.2356T>A (p.Leu786Met)
|
rs765004815
|
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_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)
|
rs864321622
|
0.00001
|
NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys)
|
rs747094879
|
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_001384479.1(AGT):c.77G>A (p.Arg26Gln)
|
rs776421645
|
0.00001
|
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
|
rs786205550
|
0.00001
|
NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met)
|
rs751200138
|
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_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)
|
rs137852920
|
0.00001
|
NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser)
|
rs764828665
|
0.00001
|
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)
|
rs397514487
|
0.00001
|
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)
|
rs587777420
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)
|
rs752732384
|
0.00001
|
NM_018451.5(CENPJ):c.133C>T (p.Arg45Ter)
|
rs786205481
|
0.00001
|
NM_020223.4(FAM20C):c.1225C>T (p.Arg409Cys)
|
rs730882220
|
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_024649.5(BBS1):c.830+2T>C
|
rs1856209722
|
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_032806.6(POMGNT2):c.473G>A (p.Arg158His)
|
rs387907300
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
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_173630.4(RTTN):c.5750A>G (p.Asp1917Gly)
|
rs780270096
|
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_000079.4(CHRNA1):c.687C>T (p.Arg229=)
|
rs545520806
|
|
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_000098.3(CPT2):c.241_242del (p.Glu81fs)
|
rs1645358577
|
|
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)
|
rs755253596
|
|
NM_000126.4(ETFA):c.884_886del (p.Thr295del)
|
rs2038999395
|
|
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_000181.4(GUSB):c.1586A>G (p.Tyr529Cys)
|
rs786205674
|
|
NM_000181.4(GUSB):c.398G>C (p.Trp133Ser)
|
rs786205671
|
|
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_000308.4(CTSA):c.521T>C (p.Leu174Pro)
|
rs2145815915
|
|
NM_000308.4(CTSA):c.595del (p.Leu199fs)
|
rs786205670
|
|
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_000405.5(GM2A):c.164C>T (p.Pro55Leu)
|
rs730882196
|
|
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_000789.4(ACE):c.3296G>A (p.Gly1099Asp)
|
rs775421383
|
|
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_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
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_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
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_001080449.3(DNA2):c.3114+6del
|
rs587777614
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
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_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001142800.2(EYS):c.179del (p.Leu60fs)
|
rs786205652
|
|
NM_001143986.2(TLE6):c.805_806del (p.Lys269fs)
|
rs752098612
|
|
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.599G>A (p.Arg200His)
|
rs764109067
|
|
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_001205254.2(OCLN):c.514dup (p.Tyr172fs)
|
rs730882227
|
|
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_001277062.2(MFF):c.112C>T (p.Gln38Ter)
|
rs397514615
|
|
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)
|
rs587776994
|
|
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_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)
|
rs192669225
|
|
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter)
|
rs786205467
|
|
NM_001369598.1(ST7):c.489T>G (p.Tyr163Ter)
|
rs550492993
|
|
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)
|
rs786205575
|
|
NM_001371986.1(UNC80):c.565G>A (p.Val189Met)
|
rs864321623
|
|
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter)
|
rs786205584
|
|
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg)
|
rs886039812
|
|
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.2339-2A>C
|
rs1719092280
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)
|
rs730882245
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)
|
rs1797611349
|
|
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala)
|
rs730882210
|
|
NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup)
|
rs773722162
|
|
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_001909.5(CTSD):c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe)
|
rs730882208
|
|
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)
|
rs797044566
|
|
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg)
|
rs786205559
|
|
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)
|
rs730882230
|
|
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_002408.4(MGAT2):c.711G>C (p.Lys237Asn)
|
rs730882218
|
|
NM_002471.4(MYH6):c.1203C>A (p.Cys401Ter)
|
rs786205484
|
|
NM_002508.3(NID1):c.3385+1G>A
|
rs730882225
|
|
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln)
|
rs786205449
|
|
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe)
|
rs786205594
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
NM_002700.3(POU4F3):c.848C>T (p.Ala283Val)
|
rs759091617
|
|
NM_002860.4(ALDH18A1):c.332A>G (p.Glu111Gly)
|
rs786205614
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_003322.6(TULP1):c.180del (p.Lys61fs)
|
rs786205650
|
|
NM_003358.3(UGCG):c.142dup (p.Ser48fs)
|
rs2118539976
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter)
|
rs786205478
|
|
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)
|
rs786205672
|
|
NM_003560.4(PLA2G6):c.1911del (p.Ser637fs)
|
rs730882214
|
|
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_004426.3(PHC1):c.2974C>T (p.Leu992Phe)
|
rs587777036
|
|
NM_004431.5(EPHA2):c.2007G>T (p.Gln669His)
|
rs786205441
|
|
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)
|
rs786205518
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
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_005006.7(NDUFS1):c.758T>G (p.Val253Gly)
|
rs786205666
|
|
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_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)
|
rs730882242
|
|
NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr)
|
rs786205486
|
|
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile)
|
rs786205514
|
|
NM_005427.4(TP73):c.613G>T (p.Glu205Ter)
|
rs2124478772
|
|
NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val)
|
rs140630794
|
|
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_006063.3(KLHL41):c.641del (p.Asn214fs)
|
rs730882235
|
|
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_006420.3(ARFGEF2):c.656dup (p.Val220fs)
|
rs730882200
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
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_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
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_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs)
|
rs730882224
|
|
NM_013247.5(HTRA2):c.1013_1015del (p.Leu338del)
|
rs1675617353
|
|
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_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)
|
rs577173144
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
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_014822.4(SEC24D):c.697G>C (p.Gly233Arg)
|
rs730882211
|
|
NM_014967.5(FAN1):c.93T>G (p.Ile31Met)
|
rs781134478
|
|
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)
|
rs730882209
|
|
NM_015087.5(SPART):c.1450dup (p.Thr484fs)
|
rs730882198
|
|
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)
|
rs757493420
|
|
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)
|
rs864309712
|
|
NM_015214.2(DDHD2):c.1249_1891del
|
|
|
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_015466.4(PTPN23):c.3995G>T (p.Arg1332Leu)
|
rs730882229
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)
|
rs730882219
|
|
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)
|
rs786205487
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs)
|
rs730882243
|
|
NM_016169.4(SUFU):c.1296+1635C>A
|
rs975490066
|
|
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_016356.5(DCDC2):c.223_293del (p.Arg75fs)
|
rs1760494153
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)
|
rs886039804
|
|
NM_016955.4(SEPSECS):c.1028_1120+1del
|
rs1553878395
|
|
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_017785.5(SPDL1):c.1724_1747del (p.Ser575_Thr582del)
|
rs730882228
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)
|
rs1843823774
|
|
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)
|
rs899172501
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)
|
rs2125107877
|
|
NM_018136.5(ASPM):c.5064del (p.Val1689fs)
|
rs786205609
|
|
NM_018249.6(CDK5RAP2):c.140del (p.Val47fs)
|
rs786205660
|
|
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)
|
rs786205669
|
|
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)
|
rs9536062
|
|
NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)
|
rs730882202
|
|
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)
|
rs372292910
|
|
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter)
|
rs786205590
|
|
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu)
|
rs786205591
|
|
NM_019108.4(SMG9):c.520_521del (p.Pro174fs)
|
rs869312741
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter)
|
rs786205510
|
|
NM_020184.4(CNNM4):c.734C>T (p.Ser245Leu)
|
rs786205530
|
|
NM_020212.2(WDR93):c.280T>C (p.Tyr94His)
|
rs730882204
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020297.4(ABCC9):c.3520C>T (p.His1174Tyr)
|
rs786205475
|
|
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)
|
rs786205623
|
|
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)
|
rs730882197
|
|
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)
|
rs730882216
|
|
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_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)
|
rs730882238
|
|
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)
|
rs587777132
|
|
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter)
|
rs750872744
|
|
NM_021147.5(CCNO):c.964del (p.Leu322fs)
|
rs1745570250
|
|
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)
|
rs730882233
|
|
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_024301.5(FKRP):c.883C>G (p.Arg295Gly)
|
rs2054921636
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024596.3(MCPH1):c.1_114del
|
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro)
|
rs2076207767
|
|
NM_024715.4(TXNDC15):c.103+1G>A
|
rs886039792
|
|
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)
|
rs886039791
|
|
NM_024757.5(EHMT1):c.2382+1697T>G
|
rs786205602
|
|
NM_024782.3(NHEJ1):c.390+1G>C
|
rs786205547
|
|
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)
|
rs1956235509
|
|
NM_024809.5(TCTN2):c.254_255del (p.Val85fs)
|
rs786205622
|
|
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)
|
rs61748106
|
|
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser)
|
rs1794039778
|
|
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.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)
|
rs1730093487
|
|
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_025214.3(CCDC68):c.775dup (p.Ser259fs)
|
rs2044011378
|
|
NM_031433.4(MFRP):c.574G>C (p.Glu192Gln)
|
rs786205472
|
|
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)
|
rs786205471
|
|
NM_031885.5(BBS2):c.365del (p.Ala122fs)
|
rs1964569500
|
|
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)
|
rs886039797
|
|
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_033402.5(LRRCC1):c.105-1G>C
|
rs886039794
|
|
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)
|
rs730882223
|
|
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_138568.4(EXOC3L2):c.398dup (p.Leu134fs)
|
rs886039793
|
|
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs)
|
rs1802018167
|
|
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)
|
rs1810936262
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
|
rs1771471295
|
|
NM_139276.3(STAT3):c.1868G>T (p.Trp623Leu)
|
rs786205503
|
|
NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)
|
rs2065139570
|
|
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
|
rs1595959305
|
|
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup)
|
rs730882232
|
|
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_152766.5(TMEM256):c.244_265del (p.Phe82fs)
|
rs886039795
|
|
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)
|
rs730880295
|
|
NM_153229.3(TMEM92):c.95+3A>G
|
rs730882247
|
|
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)
|
rs1939111919
|
|
NM_153447.4(NLRP5):c.2274_2275del (p.Trp759fs)
|
rs1982970899
|
|
NM_153704.6(TMEM67):c.1413-2A>G
|
rs786205608
|
|
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
|
rs886039810
|
|
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)
|
rs1812685381
|
|
NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu)
|
rs786205592
|
|
NM_153717.3(EVC):c.2450-1G>A
|
rs1715585498
|
|
NM_153717.3(EVC):c.770T>A (p.Leu257Gln)
|
rs750565190
|
|
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)
|
rs786205667
|
|
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)
|
rs730882203
|
|
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)
|
rs1589150410
|
|
NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)
|
rs730882244
|
|
NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro)
|
rs775277800
|
|
NM_173630.4(RTTN):c.2885+8A>G
|
rs864321620
|
|
NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln)
|
rs864321621
|
|
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys)
|
rs786205492
|
|
NM_177550.5(SLC13A5):c.231+2T>G
|
rs730882222
|
|
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)
|
rs756455049
|
|
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)
|
rs762826555
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_182914.3(SYNE2):c.4462C>T (p.Gln1488Ter)
|
rs786205488
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198525.3(KIF7):c.2286_2287insT (p.Gln763fs)
|
rs1963937785
|
|
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_207111.4(RNF216):c.2061G>A (p.Lys687=)
|
rs730882248
|
|
NM_207341.4(ZP1):c.1168del (p.Ile390fs)
|
rs1590594352
|
|
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)
|
rs786205460
|
|
Single allele
|
rs1555502637
|
|