NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
|
rs73885319
|
0.06773
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000128.4(F11):c.731A>G (p.Gln244Arg)
|
rs5969
|
0.00564
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)
|
rs61754019
|
0.00098
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)
|
rs144072210
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)
|
rs151090729
|
0.00047
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)
|
rs144526169
|
0.00040
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)
|
rs201909029
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)
|
rs149664056
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)
|
rs748531024
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_019616.4(F7):c.781C>T (p.Arg261Trp)
|
rs779589651
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)
|
rs140800288
|
0.00006
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
|
rs145300204
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
NM_000419.5(ITGA2B):c.3060+2T>C
|
rs74664206
|
0.00004
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)
|
rs113993970
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)
|
rs551140561
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
|
rs763073715
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000128.4(F11):c.976C>T (p.Arg326Cys)
|
rs28934608
|
0.00002
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00002
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)
|
rs200666300
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)
|
rs553547069
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)
|
rs267598278
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.302A>G (p.Lys101Arg)
|
rs281875272
|
0.00001
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)
|
rs757817254
|
0.00001
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
|
rs118203910
|
0.00001
|
NM_000131.4(F7):c.-61T>G
|
rs1367115848
|
0.00001
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)
|
rs781062792
|
0.00001
|
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)
|
rs958609406
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)
|
rs121918153
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)
|
rs1214448436
|
0.00001
|
NM_000419.5(ITGA2B):c.1210+105A>G
|
rs992856733
|
0.00001
|
NM_000419.5(ITGA2B):c.409-1G>A
|
rs1393747638
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
|
rs121964944
|
0.00001
|
NM_000506.5(F2):c.1814_1815del (p.His605fs)
|
rs776618390
|
0.00001
|
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)
|
rs121909608
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_000552.5(VWF):c.3108+5G>A
|
rs61748495
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)
|
rs61751288
|
0.00001
|
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
|
rs771450991
|
0.00001
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)
|
rs1567479117
|
0.00001
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)
|
rs751386365
|
0.00001
|
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)
|
rs1581573705
|
0.00001
|
NM_006017.3(PROM1):c.1579-1G>C
|
rs372513650
|
0.00001
|
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp)
|
rs1584926038
|
0.00001
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)
|
rs1277383877
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_019616.4(F7):c.443G>A (p.Arg148His)
|
rs375134790
|
0.00001
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NC_000022.11:g.19721912_19724790del
|
|
|
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
|
rs1940813707
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)
|
rs778993919
|
|
NM_000128.4(F11):c.1325del (p.Leu442fs)
|
rs757530565
|
|
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)
|
rs28934609
|
|
NM_000128.4(F11):c.449C>T (p.Thr150Met)
|
rs1340928778
|
|
NM_000128.4(F11):c.908del (p.Gly303fs)
|
rs786204722
|
|
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)
|
rs768024997
|
|
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)
|
rs1571581722
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
NM_000131.4(F7):c.-55C>T
|
rs1418012389
|
|
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)
|
rs1603431508
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)
|
rs121908064
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)
|
rs1598694640
|
|
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)
|
rs121918445
|
|
NM_000212.3(ITGB3):c.55dup (p.Ala19fs)
|
rs1302506624
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000313.4(PROS1):c.785del (p.Gly262fs)
|
rs1576182838
|
|
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)
|
rs753657349
|
|
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)
|
rs1553192682
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)
|
rs121909752
|
|
NM_000419.5(ITGA2B):c.1440-1G>A
|
rs1598379928
|
|
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)
|
rs1598377051
|
|
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)
|
rs1598375578
|
|
NM_000419.5(ITGA2B):c.559del (p.Val187fs)
|
rs1469711487
|
|
NM_000419.5(ITGA2B):c.998+1G>C
|
rs1598381778
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000488.4(SERPINC1):c.1154-14G>A
|
rs542881762
|
|
NM_000488.4(SERPINC1):c.830del (p.Glu277fs)
|
rs1572088775
|
|
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)
|
rs1460568494
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)
|
rs104893779
|
|
NM_000552.5(VWF):c.2516del (p.Gly839fs)
|
rs61748481
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)
|
rs61749384
|
|
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)
|
rs61749395
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.421G>A (p.Asp141Asn)
|
rs61753992
|
|
NM_000552.5(VWF):c.449T>C (p.Leu150Pro)
|
rs61753994
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)
|
rs587777102
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)
|
rs774996406
|
|
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)
|
rs752492512
|
|
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)
|
rs1060499609
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
|
rs1830383454
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)
|
rs878853382
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)
|
rs1594771155
|
|
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)
|
rs372031019
|
|
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)
|
rs387907349
|
|
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)
|
rs387907345
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)
|
rs1489114116
|
|
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)
|
rs80356474
|
|
NM_001367916.1(MAGT1):c.992+1G>A
|
rs1557213306
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
|
rs1569097392
|
|
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)
|
rs104893967
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp)
|
rs144437882
|
|
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)
|
rs1064797085
|
|
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)
|
rs1603483077
|
|
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)
|
rs1603484047
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
|
rs121909616
|
|
NM_005141.4(FGB):c.586C>T (p.Arg196Cys)
|
rs121909623
|
|
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)
|
rs1568211172
|
|
NM_005859.5(PURA):c.98del (p.Gly33fs)
|
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp)
|
rs1584925614
|
|
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)
|
rs752997229
|
|
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)
|
rs1556313414
|
|
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)
|
rs1556318633
|
|
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)
|
rs1574657750
|
|
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)
|
rs780680047
|
|
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)
|
rs772267579
|
|
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)
|
rs377257254
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
|
rs771025246
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.149C>G (p.Ser50Cys)
|
rs546856641
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)
|
rs886041715
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)
|
rs776817952
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)
|
rs377619533
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
|
rs886041300
|
|
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)
|
rs878853370
|
|
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)
|
rs773233587
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
Single allele
|
|
|