NM_145649.5(GCNT2):c.926-34546C>G
|
rs539351
|
0.99662
|
NM_021954.4(GJA3):c.*2426C>A
|
rs6490521
|
0.98063
|
NM_021954.4(GJA3):c.*618G>A
|
rs9509051
|
0.98010
|
NM_012064.4(MIP):c.*94T>G
|
rs2935008
|
0.97210
|
NM_021954.4(GJA3):c.895C>A (p.Leu299Met)
|
rs968566
|
0.96584
|
NM_021954.4(GJA3):c.*2593A>T
|
rs6490520
|
0.95210
|
NM_004431.5(EPHA2):c.*297G>A
|
rs1803527
|
0.94295
|
NM_003571.4(BFSP2):c.572+160A>G
|
rs7644197
|
0.93297
|
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=)
|
rs5761637
|
0.88601
|
NM_024513.4(FYCO1):c.*455A>G
|
rs6441934
|
0.86048
|
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln)
|
rs4683158
|
0.84476
|
NM_012064.4(MIP):c.*505T>C
|
rs774053
|
0.83411
|
NM_024513.4(FYCO1):c.*3742T>A
|
rs7130
|
0.83012
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=)
|
rs1463680
|
0.78251
|
NM_024513.4(FYCO1):c.*505A>G
|
rs7652331
|
0.73831
|
NM_002340.6(LSS):c.1924T>G (p.Leu642Val)
|
rs2254524
|
0.72214
|
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)
|
rs796287
|
0.69716
|
NM_024513.4(FYCO1):c.267C>A (p.Arg89=)
|
rs4682801
|
0.68219
|
NM_005029.4(PITX3):c.285C>T (p.Ile95=)
|
rs2281983
|
0.66644
|
NM_003571.4(BFSP2):c.1244+44A>G
|
rs7628499
|
0.61687
|
NM_004076.5(CRYBB3):c.-20-13T>C
|
rs2269672
|
0.60613
|
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)
|
rs9608378
|
0.58489
|
NM_001886.3(CRYBA4):c.159-20A>G
|
rs4276
|
0.57999
|
NM_002340.6(LSS):c.784-6C>T
|
rs11701729
|
0.56553
|
NM_003571.4(BFSP2):c.603= (p.Ala201=)
|
rs2276737
|
0.54090
|
NM_002340.6(LSS):c.551-6G>C
|
rs2277826
|
0.53664
|
NM_001195.5(BFSP1):c.957-83T>C
|
rs6044850
|
0.51642
|
NM_005210.4(CRYGB):c.192T>C (p.Pro64=)
|
rs2854723
|
0.48090
|
NM_001195.5(BFSP1):c.735+121G>T
|
rs1016211
|
0.46631
|
NM_015073.3(SIPA1L3):c.5203-23T>C
|
rs10419131
|
0.46560
|
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala)
|
rs3733100
|
0.46235
|
NM_003571.4(BFSP2):c.603G>A (p.Ala201=)
|
rs2276737
|
0.45910
|
NM_024513.4(FYCO1):c.3438-29C>T
|
rs1532071
|
0.45750
|
NM_003571.4(BFSP2):c.1023+31T>C
|
rs2737717
|
0.43165
|
NM_002340.6(LSS):c.864G>C (p.Pro288=)
|
rs9980968
|
0.38541
|
NM_024513.4(FYCO1):c.*2406G>A
|
rs3796373
|
0.38430
|
NM_004431.5(EPHA2):c.987C>T (p.Pro329=)
|
rs2230597
|
0.37785
|
NM_012064.4(MIP):c.*1171C>A
|
rs2371455
|
0.37529
|
NM_024513.4(FYCO1):c.*3498A>G
|
rs7129
|
0.35978
|
NM_024513.4(FYCO1):c.*315G>A
|
rs2291470
|
0.35781
|
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val)
|
rs3796375
|
0.35386
|
NM_024513.4(FYCO1):c.289-14T>A
|
rs751552
|
0.34838
|
NM_003380.5(VIM):c.-22G>C
|
rs3758410
|
0.34400
|
NM_024513.4(FYCO1):c.*662G>C
|
rs3733103
|
0.34001
|
NM_012064.4(MIP):c.*715G>A
|
rs3809125
|
0.32150
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_024513.4(FYCO1):c.*2695A>T
|
rs61519998
|
0.30131
|
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=)
|
rs6136118
|
0.27904
|
NM_004431.5(EPHA2):c.573G>A (p.Leu191=)
|
rs6678616
|
0.27639
|
NM_001289808.2(CRYAB):c.324+4T>G
|
rs11603779
|
0.26871
|
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=)
|
rs6080717
|
0.26382
|
NM_004431.5(EPHA2):c.570G>A (p.Ala190=)
|
rs6678618
|
0.26138
|
NM_021954.4(GJA3):c.*319G>T
|
rs1886176
|
0.24473
|
NM_021954.4(GJA3):c.*2602T>C
|
rs6490519
|
0.24235
|
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=)
|
rs3754334
|
0.23636
|
NM_005208.5(CRYBA1):c.456C>T (p.Gly152=)
|
rs1047790
|
0.22069
|
NM_021954.4(GJA3):c.*1257G>A
|
rs12427963
|
0.21768
|
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)
|
rs6080719
|
0.20403
|
NM_004431.5(EPHA2):c.1738+16C>T
|
rs6669624
|
0.19542
|
NM_021954.4(GJA3):c.*2231A>G
|
rs59606061
|
0.18912
|
NM_021954.4(GJA3):c.*2469T>C
|
rs60759737
|
0.18797
|
NM_021954.4(GJA3):c.*243G>A
|
rs4769953
|
0.18639
|
NM_001267052.2(UNC45B):c.808+39G>A
|
rs11869662
|
0.15718
|
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=)
|
rs10907223
|
0.15604
|
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=)
|
rs3796376
|
0.15512
|
NM_001491.3(GCNT2):c.216C>T (p.Cys72=)
|
rs2230906
|
0.10090
|
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=)
|
rs34147726
|
0.09577
|
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys)
|
rs33910087
|
0.08920
|
NM_024513.4(FYCO1):c.819A>G (p.Gln273=)
|
rs13071283
|
0.08538
|
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp)
|
rs13059238
|
0.08514
|
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=)
|
rs13079869
|
0.08069
|
NM_024513.4(FYCO1):c.*2837C>G
|
rs1994491
|
0.08051
|
NM_024513.4(FYCO1):c.3587+15C>T
|
rs13069079
|
0.08025
|
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys)
|
rs13079478
|
0.07989
|
NM_024513.4(FYCO1):c.*654T>C
|
rs75928798
|
0.07934
|
NM_024513.4(FYCO1):c.*2557G>A
|
rs1994493
|
0.07933
|
NM_024513.4(FYCO1):c.*2611A>G
|
rs1994492
|
0.07931
|
NM_024513.4(FYCO1):c.*1303C>G
|
rs60431156
|
0.07452
|
NM_024513.4(FYCO1):c.*308A>G
|
rs2291471
|
0.07001
|
NM_001886.3(CRYBA4):c.300+3A>G
|
rs56117601
|
0.06378
|
NM_004076.5(CRYBB3):c.471-6C>T
|
rs13055430
|
0.06273
|
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys)
|
rs34801630
|
0.05424
|
NM_001195.5(BFSP1):c.804C>T (p.Asn268=)
|
rs11537702
|
0.05390
|
NM_003380.5(VIM):c.813C>T (p.Asp271=)
|
rs4903
|
0.05252
|
NM_018378.3(FBXL8):c.711G>A (p.Leu237=)
|
rs61735433
|
0.04927
|
NM_001374675.1(HSF4):c.123+9C>T
|
rs115335849
|
0.04892
|
NM_012064.4(MIP):c.*615A>G
|
rs17118657
|
0.04797
|
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)
|
rs17670506
|
0.04579
|
NM_005208.5(CRYBA1):c.215+16C>T
|
rs72819448
|
0.04171
|
NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp)
|
rs79087781
|
0.04138
|
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=)
|
rs2230598
|
0.03581
|
NM_021954.4(GJA3):c.543C>T (p.Cys181=)
|
rs74607195
|
0.03391
|
NM_001886.3(CRYBA4):c.444-18G>A
|
rs75205052
|
0.03174
|
NM_018238.4(AGK):c.*1175C>T
|
rs71545336
|
0.02792
|
NM_021954.4(GJA3):c.*581A>G
|
rs61950897
|
0.02766
|
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=)
|
rs41289618
|
0.02650
|
NM_001538.4(HSF4):c.-250C>T
|
rs140579779
|
0.02554
|
NM_024513.4(FYCO1):c.*3439A>T
|
rs113723273
|
0.02359
|
NM_021954.4(GJA3):c.*3166C>T
|
rs74035923
|
0.02351
|
NM_024513.4(FYCO1):c.*2060C>A
|
rs75347427
|
0.02289
|
NM_012064.4(MIP):c.319G>A (p.Val107Ile)
|
rs74641138
|
0.01986
|
NM_018238.4(AGK):c.*141C>T
|
rs6943245
|
0.01947
|
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu)
|
rs142631461
|
0.01935
|
NM_004431.5(EPHA2):c.*443T>C
|
rs113810531
|
0.01920
|
NM_004431.5(EPHA2):c.*166G>A
|
rs11543935
|
0.01917
|
NM_004431.5(EPHA2):c.*714G>A
|
rs78569898
|
0.01916
|
NM_004431.5(EPHA2):c.*742T>A
|
rs111512184
|
0.01913
|
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=)
|
rs35586310
|
0.01913
|
NM_024513.4(FYCO1):c.*191G>A
|
rs111480321
|
0.01912
|
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr)
|
rs34021505
|
0.01910
|
NM_024513.4(FYCO1):c.845G>A (p.Arg282His)
|
rs9875356
|
0.01862
|
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His)
|
rs35903225
|
0.01759
|
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn)
|
rs36014492
|
0.01745
|
NM_001886.3(CRYBA4):c.106G>A (p.Val36Met)
|
rs35520672
|
0.01724
|
NM_001491.3(GCNT2):c.330G>A (p.Arg110=)
|
rs35537333
|
0.01705
|
NM_004431.5(EPHA2):c.824-11G>A
|
rs2291804
|
0.01705
|
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)
|
rs34192549
|
0.01659
|
NM_012064.4(MIP):c.-10C>A
|
rs61759527
|
0.01631
|
NM_021954.4(GJA3):c.*509A>G
|
rs141040647
|
0.01615
|
NM_021954.4(GJA3):c.*1083T>C
|
rs144491437
|
0.01612
|
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=)
|
rs112285834
|
0.01597
|
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu)
|
rs16999317
|
0.01485
|
NM_018238.4(AGK):c.*320G>A
|
rs3735282
|
0.01469
|
NM_012064.4(MIP):c.*284T>C
|
rs148601602
|
0.01399
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
NM_001161748.2(LIM2):c.231C>T (p.Ser77=)
|
rs8111243
|
0.01252
|
NM_005360.5(MAF):c.702A>C (p.Gly234=)
|
rs779108045
|
0.01232
|
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=)
|
rs56043737
|
0.01185
|
NM_005360.5(MAF):c.696C>A (p.Gly232=)
|
rs868331592
|
0.01160
|
NM_003380.5(VIM):c.879C>G (p.Ser293=)
|
rs11254467
|
0.01153
|
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp)
|
rs139124891
|
0.01147
|
NM_005360.5(MAF):c.611G>T (p.Gly204Val)
|
rs867401075
|
0.01145
|
NM_024513.4(FYCO1):c.*466C>T
|
rs73830632
|
0.01121
|
NM_021954.4(GJA3):c.*2864T>C
|
rs140291136
|
0.01090
|
NM_003571.4(BFSP2):c.369C>T (p.His123=)
|
rs34163197
|
0.01054
|
NM_003571.4(BFSP2):c.162C>T (p.Pro54=)
|
rs112142146
|
0.01053
|
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=)
|
rs144842183
|
0.01025
|
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln)
|
rs200899362
|
0.01003
|
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala)
|
rs143850362
|
0.00985
|
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)
|
rs41289620
|
0.00981
|
NM_002340.6(LSS):c.752C>T (p.Ala251Val)
|
rs61735801
|
0.00978
|
NM_018238.4(AGK):c.*1210A>T
|
rs184938991
|
0.00966
|
NM_021954.4(GJA3):c.*1997G>A
|
rs58325462
|
0.00903
|
NM_012064.4(MIP):c.*774G>C
|
rs66826398
|
0.00894
|
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=)
|
rs34068905
|
0.00893
|
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)
|
rs4455261
|
0.00874
|
NM_024513.4(FYCO1):c.*1056C>T
|
rs114644287
|
0.00847
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp)
|
rs149507450
|
0.00840
|
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His)
|
rs34266136
|
0.00838
|
NM_003571.4(BFSP2):c.892-17G>C
|
rs17366213
|
0.00831
|
NM_001161748.2(LIM2):c.175+11C>T
|
rs73933350
|
0.00824
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_024513.4(FYCO1):c.*1419C>T
|
rs116230454
|
0.00793
|
NM_176812.5(CHMP4B):c.558C>T (p.Pro186=)
|
rs79766928
|
0.00784
|
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met)
|
rs61731097
|
0.00776
|
NM_004431.5(EPHA2):c.648C>T (p.Ala216=)
|
rs34753465
|
0.00766
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)
|
rs76323117
|
0.00746
|
NM_004431.5(EPHA2):c.1864+12C>T
|
rs183236745
|
0.00718
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=)
|
rs35318346
|
0.00670
|
NM_021954.4(GJA3):c.375A>G (p.Pro125=)
|
rs111863858
|
0.00642
|
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser)
|
rs75648279
|
0.00632
|
NM_001374675.1(HSF4):c.*89G>T
|
rs11642409
|
0.00612
|
NM_018238.4(AGK):c.*1024C>T
|
rs78124534
|
0.00609
|
NM_004431.5(EPHA2):c.86-9C>T
|
rs138164293
|
0.00608
|
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly)
|
rs114498261
|
0.00582
|
NM_003380.5(VIM):c.1009-10C>T
|
rs79719081
|
0.00570
|
NM_012064.4(MIP):c.*407A>G
|
rs72478920
|
0.00559
|
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=)
|
rs55655135
|
0.00541
|
NM_005360.5(MAF):c.453C>A (p.Gly151=)
|
rs529173060
|
0.00540
|
NM_021954.4(GJA3):c.*2416A>G
|
rs138134157
|
0.00529
|
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=)
|
rs114548859
|
0.00520
|
NM_021954.4(GJA3):c.*358T>C
|
rs186827757
|
0.00509
|
NM_024513.4(FYCO1):c.*3057G>A
|
rs537667165
|
0.00497
|
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=)
|
rs35676629
|
0.00491
|
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=)
|
rs114895977
|
0.00475
|
NM_018238.4(AGK):c.*184C>T
|
rs116500538
|
0.00466
|
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile)
|
rs41289612
|
0.00446
|
NM_004431.5(EPHA2):c.493G>A (p.Val165Met)
|
rs150790360
|
0.00444
|
NM_001195.5(BFSP1):c.736-16G>A
|
rs76806936
|
0.00427
|
NM_024513.4(FYCO1):c.*21C>T
|
rs145828463
|
0.00422
|
NM_024513.4(FYCO1):c.*724C>A
|
rs148133261
|
0.00421
|
NM_145649.5(GCNT2):c.926-34857G>A
|
rs56106312
|
0.00419
|
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=)
|
rs137986696
|
0.00410
|
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met)
|
rs35678722
|
0.00395
|
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly)
|
rs147831812
|
0.00394
|
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln)
|
rs114145679
|
0.00391
|
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln)
|
rs116404907
|
0.00390
|
NM_024513.4(FYCO1):c.630+15G>T
|
rs76456912
|
0.00389
|
NM_024513.4(FYCO1):c.*3725A>G
|
rs547425913
|
0.00387
|
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg)
|
rs142618914
|
0.00387
|
NM_021954.4(GJA3):c.*904G>T
|
rs148572505
|
0.00384
|
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu)
|
rs6795530
|
0.00381
|
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe)
|
rs140002692
|
0.00363
|
NM_017541.4(CRYGS):c.24T>A (p.Ile8=)
|
rs113031838
|
0.00359
|
NM_001886.3(CRYBA4):c.40-1G>C
|
rs142090709
|
0.00358
|
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=)
|
rs55700006
|
0.00355
|
NM_018238.4(AGK):c.101+5C>T
|
rs150421355
|
0.00346
|
NM_021954.4(GJA3):c.1086C>A (p.Leu362=)
|
rs368180843
|
0.00339
|
NM_021954.4(GJA3):c.*223T>G
|
rs78201355
|
0.00330
|
NM_012064.4(MIP):c.-4T>C
|
rs117788190
|
0.00325
|
NM_004431.5(EPHA2):c.*355A>G
|
rs140956748
|
0.00321
|
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu)
|
rs35484156
|
0.00309
|
NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)
|
rs201011907
|
0.00303
|
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln)
|
rs149933083
|
0.00301
|
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp)
|
rs35937665
|
0.00299
|
NM_021954.4(GJA3):c.*1351C>T
|
rs138516703
|
0.00295
|
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr)
|
rs149818737
|
0.00295
|
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr)
|
rs11543934
|
0.00292
|
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn)
|
rs115171763
|
0.00292
|
NM_018238.4(AGK):c.*933C>T
|
rs73171606
|
0.00289
|
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val)
|
rs142996076
|
0.00285
|
NM_021954.4(GJA3):c.231C>T (p.Phe77=)
|
rs143508620
|
0.00277
|
NM_001195.5(BFSP1):c.418A>G (p.Met140Val)
|
rs142092768
|
0.00275
|
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met)
|
rs146711260
|
0.00271
|
NM_024513.4(FYCO1):c.869G>A (p.Arg290His)
|
rs146311777
|
0.00269
|
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg)
|
rs144182297
|
0.00266
|
NM_001886.3(CRYBA4):c.307C>T (p.Arg103Cys)
|
rs149353652
|
0.00265
|
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp)
|
rs143704916
|
0.00265
|
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)
|
rs548358901
|
0.00264
|
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=)
|
rs116798205
|
0.00264
|
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=)
|
rs55869078
|
0.00255
|
NM_004431.5(EPHA2):c.507C>T (p.Ser169=)
|
rs139064351
|
0.00254
|
NM_004431.5(EPHA2):c.*213C>T
|
rs112600002
|
0.00253
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_004431.5(EPHA2):c.1313-20C>T
|
rs146418694
|
0.00240
|
NM_012064.4(MIP):c.*1104T>A
|
rs72478921
|
0.00239
|
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu)
|
rs144800101
|
0.00236
|
NM_018238.4(AGK):c.518+18G>A
|
rs192082201
|
0.00235
|
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
|
rs117757092
|
0.00232
|
NM_012064.4(MIP):c.516C>T (p.His172=)
|
rs36032520
|
0.00232
|
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu)
|
rs73830668
|
0.00232
|
NM_001887.4(CRYBB1):c.432+15G>A
|
rs181227194
|
0.00226
|
NM_018238.4(AGK):c.17A>G (p.Lys6Arg)
|
rs148294392
|
0.00226
|
NM_018238.4(AGK):c.297+18A>G
|
rs138364626
|
0.00225
|
NM_012064.4(MIP):c.*491A>C
|
rs137926387
|
0.00222
|
NM_001538.4(HSF4):c.-186C>T
|
rs772601480
|
0.00221
|
NM_001538.4(HSF4):c.-191C>G
|
rs769427775
|
0.00220
|
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)
|
rs147206089
|
0.00220
|
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr)
|
rs141882615
|
0.00217
|
NM_012064.4(MIP):c.199G>A (p.Val67Ile)
|
rs77163805
|
0.00215
|
NM_001195.5(BFSP1):c.762A>G (p.Lys254=)
|
rs35042144
|
0.00210
|
NM_012064.4(MIP):c.*799A>G
|
rs140453442
|
0.00210
|
NM_001887.4(CRYBB1):c.399T>C (p.Ser133=)
|
rs34027527
|
0.00209
|
NM_004431.5(EPHA2):c.*668G>T
|
rs146367469
|
0.00207
|
NM_001886.3(CRYBA4):c.324A>T (p.Thr108=)
|
rs143137736
|
0.00206
|
NM_006005.3(WFS1):c.854G>A (p.Arg285His)
|
rs61735404
|
0.00205
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)
|
rs145770544
|
0.00202
|
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln)
|
rs113517878
|
0.00200
|
NM_017541.4(CRYGS):c.294C>A (p.Ile98=)
|
rs140421841
|
0.00198
|
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile)
|
rs199742128
|
0.00196
|
NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser)
|
rs146972354
|
0.00186
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
NM_004431.5(EPHA2):c.1170C>T (p.His390=)
|
rs113173342
|
0.00182
|
NM_001886.3(CRYBA4):c.216C>T (p.Gly72=)
|
rs148454808
|
0.00179
|
NM_017541.4(CRYGS):c.306G>A (p.Gly102=)
|
rs114186269
|
0.00176
|
NM_018238.4(AGK):c.*992G>A
|
rs191308473
|
0.00172
|
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu)
|
rs77431464
|
0.00169
|
NM_001491.3(GCNT2):c.630T>G (p.Gly210=)
|
rs148372193
|
0.00167
|
NM_018238.4(AGK):c.416C>G (p.Thr139Arg)
|
rs144706178
|
0.00166
|
NM_024513.4(FYCO1):c.*2851C>T
|
rs182350140
|
0.00165
|
NM_018378.3(FBXL8):c.823G>A (p.Val275Ile)
|
rs201963745
|
0.00162
|
NM_018238.4(AGK):c.29A>G (p.Asn10Ser)
|
rs35269563
|
0.00161
|
NM_024513.4(FYCO1):c.*1173C>T
|
rs187327525
|
0.00161
|
NM_021954.4(GJA3):c.*2870C>T
|
rs575352846
|
0.00160
|
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His)
|
rs138818894
|
0.00159
|
NM_001374675.1(HSF4):c.561+4T>G
|
rs180744555
|
0.00158
|
NM_004431.5(EPHA2):c.*360G>A
|
rs41269181
|
0.00155
|
NM_004431.5(EPHA2):c.489G>A (p.Leu163=)
|
rs146626026
|
0.00153
|
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=)
|
rs149080726
|
0.00152
|
NM_024513.4(FYCO1):c.*1445C>T
|
rs143753654
|
0.00148
|
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys)
|
rs184524046
|
0.00148
|
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln)
|
rs139176878
|
0.00147
|
NM_018378.3(FBXL8):c.775G>C (p.Glu259Gln)
|
rs201429195
|
0.00143
|
NM_021954.4(GJA3):c.-60G>A
|
rs533095023
|
0.00143
|
NM_024513.4(FYCO1):c.*3063G>A
|
rs570276173
|
0.00140
|
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)
|
rs145592908
|
0.00139
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
NM_005208.5(CRYBA1):c.97-8C>T
|
rs376499974
|
0.00134
|
NM_021954.4(GJA3):c.*47A>G
|
rs75630774
|
0.00133
|
NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg)
|
rs139535132
|
0.00133
|
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg)
|
rs201955819
|
0.00132
|
NM_024513.4(FYCO1):c.*3560C>A
|
rs185588322
|
0.00130
|
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe)
|
rs150785981
|
0.00127
|
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn)
|
rs141155944
|
0.00126
|
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met)
|
rs3733101
|
0.00123
|
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=)
|
rs144393956
|
0.00119
|
NM_001374675.1(HSF4):c.925C>G (p.Leu309Val)
|
rs201430635
|
0.00115
|
NM_003380.5(VIM):c.542A>C (p.Asp181Ala)
|
rs149942621
|
0.00115
|
NM_018238.4(AGK):c.803C>A (p.Thr268Asn)
|
rs142779190
|
0.00115
|
NM_001886.3(CRYBA4):c.465G>A (p.Pro155=)
|
rs117467748
|
0.00111
|
NM_003380.5(VIM):c.749A>G (p.Gln250Arg)
|
rs145152785
|
0.00111
|
NM_003571.4(BFSP2):c.75G>A (p.Ala25=)
|
rs146992682
|
0.00111
|
NM_003380.5(VIM):c.282C>T (p.Thr94=)
|
rs144539901
|
0.00107
|
NM_001538.4(HSF4):c.-223C>T
|
rs192479571
|
0.00105
|
NM_003380.5(VIM):c.1008+18A>G
|
rs368836644
|
0.00103
|
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=)
|
rs141594918
|
0.00103
|
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)
|
rs17637756
|
0.00101
|
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser)
|
rs150798461
|
0.00099
|
NM_001538.4(HSF4):c.-244A>C
|
rs754262946
|
0.00091
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=)
|
rs149902597
|
0.00087
|
NM_005360.5(MAF):c.1179G>A (p.Gln393=)
|
rs149118803
|
0.00086
|
NM_006005.3(WFS1):c.2184C>T (p.Gly728=)
|
rs71530908
|
0.00084
|
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=)
|
rs201532782
|
0.00083
|
NM_024513.4(FYCO1):c.*678A>G
|
rs141954427
|
0.00080
|
NM_003571.4(BFSP2):c.366G>A (p.Val122=)
|
rs139476224
|
0.00079
|
NM_024513.4(FYCO1):c.*342C>T
|
rs536237093
|
0.00079
|
NM_001538.4(HSF4):c.-211A>G
|
rs369313270
|
0.00078
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
NM_024513.4(FYCO1):c.3944+18C>G
|
rs144463828
|
0.00076
|
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
|
rs116506614
|
0.00073
|
NM_005360.5(MAF):c.433G>A (p.Gly145Ser)
|
rs550438083
|
0.00072
|
NM_024513.4(FYCO1):c.*709C>T
|
rs559852330
|
0.00072
|
NM_021954.4(GJA3):c.*1957G>C
|
rs142629563
|
0.00071
|
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=)
|
rs149643762
|
0.00071
|
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=)
|
rs144525738
|
0.00070
|
NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val)
|
rs145703098
|
0.00069
|
NM_001161748.2(LIM2):c.57G>A (p.Leu19=)
|
rs142517355
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_005360.5(MAF):c.649G>A (p.Gly217Ser)
|
rs977933498
|
0.00068
|
NM_024513.4(FYCO1):c.*3583C>T
|
rs575175874
|
0.00068
|
NM_003571.4(BFSP2):c.246T>C (p.Ser82=)
|
rs145934653
|
0.00067
|
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met)
|
rs55747232
|
0.00067
|
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)
|
rs149783680
|
0.00067
|
NM_024513.4(FYCO1):c.1887C>T (p.Val629=)
|
rs140372149
|
0.00066
|
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)
|
rs146592828
|
0.00066
|
NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe)
|
rs151173407
|
0.00065
|
NM_024513.4(FYCO1):c.-214C>T
|
rs576623682
|
0.00065
|
NM_001195.5(BFSP1):c.675G>A (p.Leu225=)
|
rs140834233
|
0.00064
|
NM_001161748.2(LIM2):c.175+77T>C
|
rs145192236
|
0.00063
|
NM_001374675.1(HSF4):c.81G>A (p.Leu27=)
|
rs375172660
|
0.00063
|
NM_004076.5(CRYBB3):c.75+18G>A
|
rs141199896
|
0.00063
|
NM_005360.5(MAF):c.882G>A (p.Arg294=)
|
rs140303158
|
0.00061
|
NM_004431.5(EPHA2):c.453C>T (p.Thr151=)
|
rs139200871
|
0.00060
|
NM_018238.4(AGK):c.*621T>C
|
rs192654792
|
0.00060
|
NM_004431.5(EPHA2):c.523C>T (p.Arg175Cys)
|
rs147352564
|
0.00059
|
NM_005360.5(MAF):c.715G>A (p.Ala239Thr)
|
rs561314990
|
0.00058
|
NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys)
|
rs150085001
|
0.00056
|
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn)
|
rs561395667
|
0.00056
|
NM_001161748.2(LIM2):c.175+83A>G
|
rs201295572
|
0.00055
|
NM_004431.5(EPHA2):c.*284C>T
|
rs537231128
|
0.00053
|
NM_004076.5(CRYBB3):c.327+1G>T
|
rs143187630
|
0.00052
|
NM_018238.4(AGK):c.743A>C (p.His248Pro)
|
rs150160397
|
0.00051
|
NM_024513.4(FYCO1):c.56-4A>G
|
rs150959263
|
0.00051
|
NM_004431.5(EPHA2):c.2579G>A (p.Arg860His)
|
rs139225059
|
0.00049
|
NM_021954.4(GJA3):c.*2831A>G
|
rs529957247
|
0.00049
|
NM_024513.4(FYCO1):c.*2771A>G
|
rs759567503
|
0.00049
|
NM_004431.5(EPHA2):c.*659T>A
|
rs139754494
|
0.00046
|
NM_021954.4(GJA3):c.*491T>A
|
rs563280044
|
0.00046
|
NM_005208.5(CRYBA1):c.75G>A (p.Pro25=)
|
rs368469355
|
0.00044
|
NM_018238.4(AGK):c.424-11T>C
|
rs200973491
|
0.00044
|
NM_005208.5(CRYBA1):c.555T>C (p.Cys185=)
|
rs145678386
|
0.00043
|
NM_006005.3(WFS1):c.2085C>T (p.Gly695=)
|
rs150568382
|
0.00043
|
NM_018238.4(AGK):c.*197C>T
|
rs987287830
|
0.00043
|
NM_018238.4(AGK):c.1088C>T (p.Thr363Met)
|
rs142069429
|
0.00043
|
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr)
|
rs139107757
|
0.00042
|
NM_001374675.1(HSF4):c.63C>A (p.Leu21=)
|
rs372135101
|
0.00041
|
NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys)
|
rs145444931
|
0.00041
|
NM_018238.4(AGK):c.877+14C>T
|
rs41275003
|
0.00041
|
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala)
|
rs117543659
|
0.00041
|
NM_024513.4(FYCO1):c.*3366T>G
|
rs886058550
|
0.00040
|
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=)
|
rs55740291
|
0.00039
|
NM_018238.4(AGK):c.1131+11A>G
|
rs202069684
|
0.00038
|
NM_024513.4(FYCO1):c.1549T>A (p.Phe517Ile)
|
rs148594622
|
0.00038
|
NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met)
|
rs201764993
|
0.00038
|
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=)
|
rs142495368
|
0.00036
|
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr)
|
rs139787163
|
0.00036
|
NM_024513.4(FYCO1):c.1425G>A (p.Glu475=)
|
rs144119495
|
0.00036
|
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala)
|
rs142081868
|
0.00035
|
NM_001374675.1(HSF4):c.627-11C>T
|
rs199856104
|
0.00034
|
NM_003571.4(BFSP2):c.*159T>G
|
rs540920442
|
0.00034
|
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)
|
rs149232677
|
0.00034
|
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His)
|
rs151051126
|
0.00034
|
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)
|
rs185127002
|
0.00033
|
NM_004431.5(EPHA2):c.1215C>T (p.His405=)
|
rs142848257
|
0.00032
|
NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu)
|
rs147971015
|
0.00032
|
NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr)
|
rs139604029
|
0.00032
|
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu)
|
rs185816798
|
0.00031
|
NM_021954.4(GJA3):c.*2093A>C
|
rs1040384781
|
0.00031
|
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala)
|
rs770718484
|
0.00031
|
NM_021954.4(GJA3):c.261G>A (p.Thr87=)
|
rs368890350
|
0.00031
|
NM_024513.4(FYCO1):c.*3512T>A
|
rs35867098
|
0.00031
|
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp)
|
rs150498691
|
0.00031
|
NM_001195.5(BFSP1):c.183C>T (p.Leu61=)
|
rs545346553
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_001161748.2(LIM2):c.175+50G>A
|
rs147625714
|
0.00029
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
0.00029
|
NM_006005.3(WFS1):c.1124G>A (p.Arg375His)
|
rs142671083
|
0.00029
|
NM_018238.4(AGK):c.877+15G>A
|
rs201052151
|
0.00029
|
NM_021954.4(GJA3):c.*1449C>T
|
rs867076363
|
0.00029
|
NM_021954.4(GJA3):c.1083A>C (p.Pro361=)
|
rs779251021
|
0.00029
|
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp)
|
rs141828619
|
0.00029
|
NM_024513.4(FYCO1):c.2622G>A (p.Gln874=)
|
rs761900261
|
0.00029
|
NM_024513.4(FYCO1):c.186C>T (p.Thr62=)
|
rs147216026
|
0.00028
|
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met)
|
rs145017887
|
0.00027
|
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr)
|
rs140135049
|
0.00027
|
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu)
|
rs145026721
|
0.00027
|
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr)
|
rs147718368
|
0.00026
|
NM_001374675.1(HSF4):c.*8C>T
|
rs372224972
|
0.00026
|
NM_003380.5(VIM):c.987A>G (p.Glu329=)
|
rs147429387
|
0.00026
|
NM_017541.4(CRYGS):c.215G>A (p.Arg72His)
|
rs144812537
|
0.00026
|
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn)
|
rs200708134
|
0.00025
|
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
|
rs139944598
|
0.00025
|
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser)
|
rs144342633
|
0.00025
|
NM_006005.3(WFS1):c.1470C>T (p.Thr490=)
|
rs146027767
|
0.00025
|
NM_024513.4(FYCO1):c.*2757C>A
|
rs186073318
|
0.00025
|
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser)
|
rs140057151
|
0.00024
|
NM_006005.3(WFS1):c.1419C>T (p.Ser473=)
|
rs150997327
|
0.00024
|
NM_018378.3(FBXL8):c.1033G>C (p.Asp345His)
|
rs200404151
|
0.00024
|
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val)
|
rs147977279
|
0.00023
|
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys)
|
rs149540655
|
0.00023
|
NM_015073.3(SIPA1L3):c.4808C>G (p.Pro1603Arg)
|
rs769799297
|
0.00023
|
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val)
|
rs148445016
|
0.00023
|
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)
|
rs185805779
|
0.00023
|
NM_004431.5(EPHA2):c.*510G>A
|
rs144559615
|
0.00022
|
NM_004431.5(EPHA2):c.2472C>T (p.His824=)
|
rs145425916
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_012064.4(MIP):c.*32T>C
|
rs185699444
|
0.00022
|
NM_018238.4(AGK):c.*1467T>C
|
rs140297904
|
0.00022
|
NM_001887.4(CRYBB1):c.-7G>A
|
rs200292741
|
0.00021
|
NM_003380.5(VIM):c.911G>A (p.Arg304Gln)
|
rs552165238
|
0.00021
|
NM_006005.3(WFS1):c.712+19C>T
|
rs376973865
|
0.00021
|
NM_018238.4(AGK):c.742C>T (p.His248Tyr)
|
rs78219214
|
0.00021
|
NM_024513.4(FYCO1):c.*810G>A
|
rs778420399
|
0.00021
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys)
|
rs144172331
|
0.00020
|
NM_006005.3(WFS1):c.712+8C>T
|
rs369185545
|
0.00020
|
NM_006005.3(WFS1):c.762C>T (p.Tyr254=)
|
rs140266808
|
0.00020
|
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro)
|
rs142111893
|
0.00019
|
NM_001289808.2(CRYAB):c.-21C>T
|
rs376222434
|
0.00019
|
NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys)
|
rs148083686
|
0.00019
|
NM_003571.4(BFSP2):c.720C>T (p.Asn240=)
|
rs376911067
|
0.00019
|
NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys)
|
rs370785666
|
0.00019
|
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)
|
rs200095753
|
0.00019
|
NM_006005.3(WFS1):c.1377G>A (p.Leu459=)
|
rs143672793
|
0.00019
|
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)
|
rs373862003
|
0.00019
|
NM_006005.3(WFS1):c.315+18G>A
|
rs375473654
|
0.00019
|
NM_018238.4(AGK):c.*1301C>T
|
rs553433680
|
0.00019
|
NM_024513.4(FYCO1):c.*3326G>A
|
rs982945628
|
0.00019
|
NM_024513.4(FYCO1):c.2815G>C (p.Ala939Pro)
|
rs531750827
|
0.00019
|
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_001161748.2(LIM2):c.281G>A (p.Arg94His)
|
rs770425768
|
0.00018
|
NM_004431.5(EPHA2):c.*845G>A
|
rs181703453
|
0.00018
|
NM_006005.3(WFS1):c.2622C>T (p.Ala874=)
|
rs141052196
|
0.00018
|
NM_012064.4(MIP):c.*969G>A
|
rs543075454
|
0.00018
|
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly)
|
rs143507827
|
0.00018
|
NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln)
|
rs148119487
|
0.00017
|
NM_003571.4(BFSP2):c.51C>T (p.Ser17=)
|
rs141310092
|
0.00017
|
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)
|
rs147937174
|
0.00017
|
NM_006005.3(WFS1):c.1755C>T (p.Phe585=)
|
rs1801210
|
0.00017
|
NM_018238.4(AGK):c.727-9C>T
|
rs199977261
|
0.00017
|
NM_021954.4(GJA3):c.*2311A>C
|
rs555846962
|
0.00017
|
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)
|
rs201263814
|
0.00016
|
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=)
|
rs367756178
|
0.00016
|
NM_003380.5(VIM):c.384T>C (p.Asn128=)
|
rs147857896
|
0.00016
|
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn)
|
rs142897070
|
0.00016
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)
|
rs148089728
|
0.00016
|
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
|
rs147724970
|
0.00016
|
NM_006005.3(WFS1):c.801C>T (p.Asp267=)
|
rs147734431
|
0.00016
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
NM_021954.4(GJA3):c.-41G>T
|
rs886050024
|
0.00016
|
NM_021954.4(GJA3):c.852C>G (p.Ala284=)
|
rs557677250
|
0.00016
|
NM_024513.4(FYCO1):c.337G>A (p.Val113Met)
|
rs145897969
|
0.00016
|
NM_024513.4(FYCO1):c.443C>T (p.Ser148Leu)
|
rs149818406
|
0.00016
|
NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp)
|
rs142017802
|
0.00016
|
NM_006005.3(WFS1):c.71G>A (p.Arg24His)
|
rs71524364
|
0.00015
|
NM_018238.4(AGK):c.764C>T (p.Thr255Met)
|
rs112625649
|
0.00015
|
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=)
|
rs373400491
|
0.00015
|
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp)
|
rs3821885
|
0.00015
|
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile)
|
rs142030761
|
0.00014
|
NM_003571.4(BFSP2):c.*73C>T
|
rs537979573
|
0.00014
|
NM_004076.5(CRYBB3):c.-61C>T
|
rs113563958
|
0.00014
|
NM_004076.5(CRYBB3):c.263G>A (p.Arg88His)
|
rs138167578
|
0.00014
|
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)
|
rs144993516
|
0.00014
|
NM_021954.4(GJA3):c.*1176A>C
|
rs886050014
|
0.00014
|
NM_021954.4(GJA3):c.*2931A>G
|
rs544693111
|
0.00014
|
NM_024513.4(FYCO1):c.546G>A (p.Thr182=)
|
rs201372127
|
0.00014
|
NM_024513.4(FYCO1):c.678C>T (p.Asn226=)
|
rs140730556
|
0.00014
|
NM_001491.3(GCNT2):c.60del (p.Ile20fs)
|
rs1184095219
|
0.00013
|
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys)
|
rs367616021
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile)
|
rs71524358
|
0.00013
|
NM_012064.4(MIP):c.*601G>A
|
rs565229690
|
0.00013
|
NM_012064.4(MIP):c.378C>T (p.Ser126=)
|
rs35033450
|
0.00013
|
NM_018238.4(AGK):c.*1127C>A
|
rs886062027
|
0.00013
|
NM_018238.4(AGK):c.222-13C>T
|
rs374601217
|
0.00013
|
NM_018238.4(AGK):c.26G>A (p.Arg9Gln)
|
rs577821330
|
0.00013
|
NM_018238.4(AGK):c.852G>A (p.Ala284=)
|
rs183816817
|
0.00013
|
NM_021954.4(GJA3):c.771C>A (p.Pro257=)
|
rs553789027
|
0.00013
|
NM_024513.4(FYCO1):c.3151-12G>A
|
rs372806650
|
0.00013
|
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=)
|
rs370574556
|
0.00013
|
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)
|
rs375878222
|
0.00012
|
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu)
|
rs376402047
|
0.00012
|
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro)
|
rs376341411
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu)
|
rs377677067
|
0.00012
|
NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln)
|
rs142234866
|
0.00011
|
NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu)
|
rs777977625
|
0.00011
|
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val)
|
rs199755934
|
0.00011
|
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp)
|
rs376115617
|
0.00011
|
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met)
|
rs200490325
|
0.00011
|
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=)
|
rs143828420
|
0.00011
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)
|
rs767561828
|
0.00011
|
NM_006005.3(WFS1):c.1752G>A (p.Gln584=)
|
rs76577786
|
0.00011
|
NM_012064.4(MIP):c.490G>A (p.Val164Ile)
|
rs149279854
|
0.00011
|
NM_018378.3(FBXL8):c.883G>T (p.Ala295Ser)
|
rs201135322
|
0.00011
|
NM_021954.4(GJA3):c.*2107T>A
|
rs553286295
|
0.00011
|
NM_021954.4(GJA3):c.*3509C>G
|
rs966696205
|
0.00011
|
NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp)
|
rs370424081
|
0.00010
|
NM_003380.5(VIM):c.1360-17T>G
|
rs764183925
|
0.00010
|
NM_004076.5(CRYBB3):c.*129G>A
|
rs561311265
|
0.00010
|
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys)
|
rs201941686
|
0.00010
|
NM_004431.5(EPHA2):c.2671G>A (p.Val891Met)
|
rs139168333
|
0.00010
|
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=)
|
rs140726562
|
0.00010
|
NM_005210.4(CRYGB):c.44G>A (p.Arg15His)
|
rs370450145
|
0.00010
|
NM_005360.5(MAF):c.285C>A (p.Thr95=)
|
rs369752568
|
0.00010
|
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
|
rs71532861
|
0.00010
|
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)
|
rs56393026
|
0.00010
|
NM_018238.4(AGK):c.*1237G>A
|
rs202211411
|
0.00010
|
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln)
|
rs374861637
|
0.00010
|
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser)
|
rs372021321
|
0.00010
|
NM_001161748.2(LIM2):c.369C>T (p.Thr123=)
|
rs200033512
|
0.00009
|
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp)
|
rs372210205
|
0.00009
|
NM_001374675.1(HSF4):c.347G>A (p.Arg116His)
|
rs79121622
|
0.00009
|
NM_001374675.1(HSF4):c.991G>A (p.Ala331Thr)
|
rs199773890
|
0.00009
|
NM_001491.3(GCNT2):c.741G>A (p.Ala247=)
|
rs200874437
|
0.00009
|
NM_001491.3(GCNT2):c.816C>T (p.Ala272=)
|
rs773819612
|
0.00009
|
NM_001538.4(HSF4):c.-125C>T
|
rs2272420
|
0.00009
|
NM_001538.4(HSF4):c.-198C>T
|
rs893014096
|
0.00009
|
NM_001887.4(CRYBB1):c.510C>T (p.Asp170=)
|
rs748025775
|
0.00009
|
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)
|
rs201027853
|
0.00009
|
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala)
|
rs767366742
|
0.00009
|
NM_006005.3(WFS1):c.1494C>T (p.Val498=)
|
rs778206175
|
0.00009
|
NM_006005.3(WFS1):c.1770G>A (p.Thr590=)
|
rs71532858
|
0.00009
|
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr)
|
rs201335980
|
0.00009
|
NM_006005.3(WFS1):c.747G>A (p.Glu249=)
|
rs752638064
|
0.00009
|
NM_006005.3(WFS1):c.862-19C>T
|
rs370767782
|
0.00009
|
NM_012064.4(MIP):c.*674G>A
|
rs150155933
|
0.00009
|
NM_012064.4(MIP):c.713A>C (p.Lys238Thr)
|
rs755752015
|
0.00009
|
NM_018238.4(AGK):c.-14-3T>C
|
rs371437227
|
0.00009
|
NM_018238.4(AGK):c.445A>G (p.Ile149Val)
|
rs113986866
|
0.00009
|
NM_021954.4(GJA3):c.672C>T (p.His224=)
|
rs757939318
|
0.00009
|
NM_024513.4(FYCO1):c.*176C>T
|
rs544729621
|
0.00009
|
NM_024513.4(FYCO1):c.*3527G>A
|
rs756372595
|
0.00009
|
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys)
|
rs72889997
|
0.00009
|
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=)
|
rs766375149
|
0.00009
|
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)
|
rs148284531
|
0.00009
|
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp)
|
rs139154341
|
0.00008
|
NM_001195.5(BFSP1):c.735+9G>A
|
rs774559581
|
0.00008
|
NM_001374675.1(HSF4):c.510G>A (p.Glu170=)
|
rs372473149
|
0.00008
|
NM_001538.3(HSF4):c.*159T>C
|
rs776129671
|
0.00008
|
NM_001887.4(CRYBB1):c.282C>T (p.Ile94=)
|
rs372418411
|
0.00008
|
NM_003571.4(BFSP2):c.*132G>C
|
rs578233592
|
0.00008
|
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His)
|
rs138475231
|
0.00008
|
NM_006005.3(WFS1):c.1148G>A (p.Arg383His)
|
rs369450642
|
0.00008
|
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val)
|
rs574657627
|
0.00008
|
NM_006005.3(WFS1):c.2391C>T (p.Asp797=)
|
rs548415089
|
0.00008
|
NM_006005.3(WFS1):c.393C>T (p.Val131=)
|
rs758199900
|
0.00008
|
NM_018238.4(AGK):c.*1126T>A
|
rs1269074943
|
0.00008
|
NM_021954.4(GJA3):c.*2695C>T
|
rs774238106
|
0.00008
|
NM_024513.4(FYCO1):c.*3278G>A
|
rs546718807
|
0.00008
|
NM_024513.4(FYCO1):c.*988C>A
|
rs912973615
|
0.00008
|
NM_001161748.2(LIM2):c.*245A>G
|
rs758862764
|
0.00007
|
NM_001374675.1(HSF4):c.250G>C (p.Val84Leu)
|
rs747840876
|
0.00007
|
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys)
|
rs367654370
|
0.00007
|
NM_001886.3(CRYBA4):c.61G>A (p.Gly21Ser)
|
rs201421932
|
0.00007
|
NM_004431.5(EPHA2):c.2682G>A (p.Arg894=)
|
rs747921529
|
0.00007
|
NM_006005.3(WFS1):c.1633G>A (p.Val545Met)
|
rs201993978
|
0.00007
|
NM_006005.3(WFS1):c.342C>T (p.Ala114=)
|
rs201151892
|
0.00007
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
NM_012064.4(MIP):c.*1495T>C
|
rs769951572
|
0.00007
|
NM_018238.4(AGK):c.519-5T>C
|
rs755469922
|
0.00007
|
NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp)
|
rs768152063
|
0.00007
|
NM_021954.4(GJA3):c.1233C>T (p.Leu411=)
|
rs543711227
|
0.00007
|
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln)
|
rs755500518
|
0.00007
|
NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu)
|
rs377256529
|
0.00007
|
NM_024513.4(FYCO1):c.4251+11G>A
|
rs777307225
|
0.00007
|
NM_001161748.2(LIM2):c.108C>T (p.Ser36=)
|
rs760441995
|
0.00006
|
NM_001161748.2(LIM2):c.326-15G>A
|
rs752385175
|
0.00006
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
NM_001887.4(CRYBB1):c.-6G>A
|
rs200241940
|
0.00006
|
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr)
|
rs200002097
|
0.00006
|
NM_001887.4(CRYBB1):c.507C>T (p.Asp169=)
|
rs549883505
|
0.00006
|
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)
|
rs200457939
|
0.00006
|
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His)
|
rs200584818
|
0.00006
|
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile)
|
rs568736295
|
0.00006
|
NM_004431.5(EPHA2):c.153+15G>A
|
rs753000983
|
0.00006
|
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)
|
rs201325716
|
0.00006
|
NM_004431.5(EPHA2):c.2898G>A (p.Lys966=)
|
rs142825252
|
0.00006
|
NM_004431.5(EPHA2):c.606C>T (p.Pro202=)
|
rs201175373
|
0.00006
|
NM_005360.5(MAF):c.1028C>T (p.Ala343Val)
|
rs201126542
|
0.00006
|
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)
|
rs181988441
|
0.00006
|
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys)
|
rs144452795
|
0.00006
|
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)
|
rs371911218
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006005.3(WFS1):c.1791C>T (p.Ile597=)
|
rs141883293
|
0.00006
|
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln)
|
rs140667597
|
0.00006
|
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg)
|
rs758613421
|
0.00006
|
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)
|
rs148611943
|
0.00006
|
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)
|
rs200775335
|
0.00006
|
NM_006005.3(WFS1):c.315+17C>T
|
rs766977344
|
0.00006
|
NM_006005.3(WFS1):c.514C>T (p.Leu172=)
|
rs371632935
|
0.00006
|
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu)
|
rs767957602
|
0.00006
|
NM_006005.3(WFS1):c.642G>A (p.Ala214=)
|
rs761245713
|
0.00006
|
NM_006005.3(WFS1):c.656T>C (p.Val219Ala)
|
rs373662682
|
0.00006
|
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly)
|
rs769151204
|
0.00006
|
NM_006005.3(WFS1):c.862-3C>G
|
rs201889635
|
0.00006
|
NM_017541.4(CRYGS):c.265-12G>A
|
rs367680173
|
0.00006
|
NM_018238.4(AGK):c.327C>T (p.Leu109=)
|
rs148971840
|
0.00006
|
NM_018238.4(AGK):c.410G>A (p.Arg137Gln)
|
rs770394329
|
0.00006
|
NM_018238.4(AGK):c.804C>T (p.Thr268=)
|
rs543549513
|
0.00006
|
NM_018238.4(AGK):c.976-20A>G
|
rs201192380
|
0.00006
|
NM_018378.3(FBXL8):c.*277C>T
|
rs562489000
|
0.00006
|
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu)
|
rs766975987
|
0.00006
|
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu)
|
rs774444626
|
0.00006
|
NM_024513.4(FYCO1):c.*2286T>C
|
rs886058557
|
0.00006
|
NM_024513.4(FYCO1):c.*2301A>G
|
rs886058556
|
0.00006
|
NM_024513.4(FYCO1):c.*3191G>A
|
rs886058552
|
0.00006
|
NM_024513.4(FYCO1):c.*3502A>T
|
rs753979161
|
0.00006
|
NM_024513.4(FYCO1):c.1933G>A (p.Asp645Asn)
|
rs145238648
|
0.00006
|
NM_024513.4(FYCO1):c.2359C>T (p.Arg787Trp)
|
rs200040076
|
0.00006
|
NM_024513.4(FYCO1):c.2433C>G (p.Ser811Arg)
|
rs367782717
|
0.00006
|
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val)
|
rs142098311
|
0.00006
|
NM_024513.4(FYCO1):c.3935C>T (p.Ala1312Val)
|
rs140583635
|
0.00006
|
NM_176812.5(CHMP4B):c.191-5C>T
|
rs377095745
|
0.00006
|
NM_001161748.2(LIM2):c.175+113G>C
|
rs754470902
|
0.00005
|
NM_001161748.2(LIM2):c.40G>A (p.Val14Met)
|
rs202081431
|
0.00005
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
|
rs727504039
|
0.00005
|
NM_001374675.1(HSF4):c.*148T>G
|
rs985380596
|
0.00005
|
NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys)
|
rs144399466
|
0.00005
|
NM_004431.5(EPHA2):c.*625G>A
|
rs886045502
|
0.00005
|
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val)
|
rs374476265
|
0.00005
|
NM_006005.3(WFS1):c.1026C>T (p.Ala342=)
|
rs777072078
|
0.00005
|
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)
|
rs759466443
|
0.00005
|
NM_006005.3(WFS1):c.1471G>A (p.Val491Met)
|
rs143597170
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser)
|
rs753237278
|
0.00005
|
NM_006005.3(WFS1):c.1958G>A (p.Arg653His)
|
rs199697430
|
0.00005
|
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile)
|
rs377712049
|
0.00005
|
NM_006005.3(WFS1):c.444C>T (p.Cys148=)
|
rs998539254
|
0.00005
|
NM_006005.3(WFS1):c.477C>T (p.Asn159=)
|
rs753964845
|
0.00005
|
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)
|
rs376335216
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_018238.4(AGK):c.297+2T>C
|
rs765471424
|
0.00005
|
NM_018238.4(AGK):c.621C>T (p.Thr207=)
|
rs140431258
|
0.00005
|
NM_018238.4(AGK):c.655G>A (p.Val219Ile)
|
rs201584377
|
0.00005
|
NM_018238.4(AGK):c.684G>A (p.Gly228=)
|
rs150732826
|
0.00005
|
NM_021954.4(GJA3):c.*1931G>C
|
rs1244045985
|
0.00005
|
NM_021954.4(GJA3):c.*532A>G
|
rs1169670475
|
0.00005
|
NM_024513.4(FYCO1):c.*1270T>C
|
rs1296033449
|
0.00005
|
NM_024513.4(FYCO1):c.*2889C>A
|
rs886058553
|
0.00005
|
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=)
|
rs759845569
|
0.00005
|
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu)
|
rs56141211
|
0.00005
|
NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr)
|
rs773568535
|
0.00004
|
NM_001195.5(BFSP1):c.627+9T>G
|
rs776455142
|
0.00004
|
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)
|
rs1256600488
|
0.00004
|
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)
|
rs4252582
|
0.00004
|
NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp)
|
rs199896245
|
0.00004
|
NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr)
|
rs758027535
|
0.00004
|
NM_001374675.1(HSF4):c.394C>T (p.Arg132Cys)
|
rs769736356
|
0.00004
|
NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)
|
rs760351849
|
0.00004
|
NM_001374675.1(HSF4):c.854+5G>A
|
rs775017771
|
0.00004
|
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys)
|
rs200427106
|
0.00004
|
NM_001886.3(CRYBA4):c.158+1G>A
|
rs752903519
|
0.00004
|
NM_001887.4(CRYBB1):c.*67C>G
|
rs144489412
|
0.00004
|
NM_001887.4(CRYBB1):c.717C>T (p.Leu239=)
|
rs779509832
|
0.00004
|
NM_003380.5(VIM):c.758A>G (p.His253Arg)
|
rs773762488
|
0.00004
|
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter)
|
rs1224719314
|
0.00004
|
NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln)
|
rs80176276
|
0.00004
|
NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn)
|
rs886058007
|
0.00004
|
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp)
|
rs200862865
|
0.00004
|
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=)
|
rs147906885
|
0.00004
|
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)
|
rs201863246
|
0.00004
|
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys)
|
rs755475309
|
0.00004
|
NM_004431.5(EPHA2):c.1071C>T (p.Arg357=)
|
rs769561791
|
0.00004
|
NM_004431.5(EPHA2):c.1380G>A (p.Pro460=)
|
rs767195093
|
0.00004
|
NM_004431.5(EPHA2):c.141G>A (p.Pro47=)
|
rs370213656
|
0.00004
|
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=)
|
rs746512965
|
0.00004
|
NM_004431.5(EPHA2):c.1533G>A (p.Thr511=)
|
rs550085875
|
0.00004
|
NM_004431.5(EPHA2):c.1583-15G>C
|
rs376854026
|
0.00004
|
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn)
|
rs754447639
|
0.00004
|
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn)
|
rs200541087
|
0.00004
|
NM_004431.5(EPHA2):c.681C>T (p.Ala227=)
|
rs770700471
|
0.00004
|
NM_004431.5(EPHA2):c.717G>A (p.Gly239=)
|
rs377158184
|
0.00004
|
NM_005208.5(CRYBA1):c.97-20G>A
|
rs201548192
|
0.00004
|
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)
|
rs373146435
|
0.00004
|
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)
|
rs151244358
|
0.00004
|
NM_006005.3(WFS1):c.1220A>G (p.His407Arg)
|
rs140407862
|
0.00004
|
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr)
|
rs773280611
|
0.00004
|
NM_006005.3(WFS1):c.1320C>T (p.Thr440=)
|
rs762339922
|
0.00004
|
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr)
|
rs71524357
|
0.00004
|
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser)
|
rs760692398
|
0.00004
|
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile)
|
rs148544389
|
0.00004
|
NM_006005.3(WFS1):c.1929C>T (p.Ile643=)
|
rs544473222
|
0.00004
|
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)
|
rs765322804
|
0.00004
|
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)
|
rs757027394
|
0.00004
|
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)
|
rs138165486
|
0.00004
|
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=)
|
rs375408391
|
0.00004
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
NM_006005.3(WFS1):c.2349C>T (p.Phe783=)
|
rs759746525
|
0.00004
|
NM_006005.3(WFS1):c.2520C>T (p.Phe840=)
|
rs777254962
|
0.00004
|
NM_006005.3(WFS1):c.2607C>T (p.Ser869=)
|
rs1410561677
|
0.00004
|
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu)
|
rs547089139
|
0.00004
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser)
|
rs770713329
|
0.00004
|
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala)
|
rs375632598
|
0.00004
|
NM_018238.4(AGK):c.101+7A>C
|
rs373899577
|
0.00004
|
NM_018238.4(AGK):c.142-11T>C
|
rs899737243
|
0.00004
|
NM_018238.4(AGK):c.203A>G (p.Asn68Ser)
|
rs565745559
|
0.00004
|
NM_018238.4(AGK):c.55C>T (p.Leu19Phe)
|
rs367844999
|
0.00004
|
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)
|
rs28931604
|
0.00004
|
NM_021954.4(GJA3):c.*101G>A
|
rs886050019
|
0.00004
|
NM_021954.4(GJA3):c.*1365G>A
|
rs1032039343
|
0.00004
|
NM_021954.4(GJA3):c.*1841C>T
|
rs886050011
|
0.00004
|
NM_024513.4(FYCO1):c.*1398G>A
|
rs757256026
|
0.00004
|
NM_024513.4(FYCO1):c.*2343G>A
|
rs987356196
|
0.00004
|
NM_024513.4(FYCO1):c.107C>T (p.Thr36Met)
|
rs762961354
|
0.00004
|
NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg)
|
rs146010173
|
0.00004
|
NM_024513.4(FYCO1):c.1676C>T (p.Pro559Leu)
|
rs759805930
|
0.00004
|
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp)
|
rs745338967
|
0.00004
|
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His)
|
rs375376263
|
0.00004
|
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=)
|
rs755502918
|
0.00004
|
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly)
|
rs778635228
|
0.00004
|
NM_001161748.2(LIM2):c.175+28G>A
|
rs199913969
|
0.00003
|
NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp)
|
rs558484735
|
0.00003
|
NM_001195.5(BFSP1):c.735+17C>T
|
rs368674829
|
0.00003
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)
|
rs782122417
|
0.00003
|
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)
|
rs782316391
|
0.00003
|
NM_001374675.1(HSF4):c.1127T>C (p.Leu376Pro)
|
rs373962350
|
0.00003
|
NM_001374675.1(HSF4):c.1137G>A (p.Pro379=)
|
rs369862977
|
0.00003
|
NM_001374675.1(HSF4):c.523C>G (p.Arg175Gly)
|
rs377009893
|
0.00003
|
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly)
|
rs560637463
|
0.00003
|
NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val)
|
rs530186829
|
0.00003
|
NM_001886.3(CRYBA4):c.300+2T>C
|
rs372271933
|
0.00003
|
NM_001886.3(CRYBA4):c.40-5C>T
|
rs751503329
|
0.00003
|
NM_002340.6(LSS):c.1025T>G (p.Ile342Ser)
|
rs749141857
|
0.00003
|
NM_003380.5(VIM):c.1009-8C>A
|
rs372984113
|
0.00003
|
NM_003380.5(VIM):c.451G>A (p.Glu151Lys)
|
rs121917775
|
0.00003
|
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=)
|
rs886057291
|
0.00003
|
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys)
|
rs200985752
|
0.00003
|
NM_004431.5(EPHA2):c.*790C>T
|
rs371642899
|
0.00003
|
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe)
|
rs758978165
|
0.00003
|
NM_004431.5(EPHA2):c.1608G>A (p.Ala536=)
|
rs777962415
|
0.00003
|
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=)
|
rs55660973
|
0.00003
|
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His)
|
rs750878968
|
0.00003
|
NM_004431.5(EPHA2):c.1734G>A (p.Lys578=)
|
rs1156858324
|
0.00003
|
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp)
|
rs373953344
|
0.00003
|
NM_004431.5(EPHA2):c.2116-6C>T
|
rs765586631
|
0.00003
|
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=)
|
rs372191320
|
0.00003
|
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=)
|
rs199875761
|
0.00003
|
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=)
|
rs749180343
|
0.00003
|
NM_004431.5(EPHA2):c.390C>T (p.Tyr130=)
|
rs374988801
|
0.00003
|
NM_005208.5(CRYBA1):c.500+1G>A
|
rs775038545
|
0.00003
|
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser)
|
rs773038726
|
0.00003
|
NM_005360.5(MAF):c.412C>A (p.Leu138Met)
|
rs771268967
|
0.00003
|
NM_006005.3(WFS1):c.1008C>G (p.Leu336=)
|
rs755063164
|
0.00003
|
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr)
|
rs942866942
|
0.00003
|
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)
|
rs544933961
|
0.00003
|
NM_006005.3(WFS1):c.1680C>T (p.Ser560=)
|
rs760906868
|
0.00003
|
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val)
|
rs749172015
|
0.00003
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
0.00003
|
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met)
|
rs368236000
|
0.00003
|
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly)
|
rs143280847
|
0.00003
|
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser)
|
rs566587586
|
0.00003
|
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)
|
rs377102310
|
0.00003
|
NM_006005.3(WFS1):c.2406C>T (p.Ile802=)
|
rs201102144
|
0.00003
|
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe)
|
rs771391168
|
0.00003
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
NM_006005.3(WFS1):c.882C>T (p.His294=)
|
rs571928866
|
0.00003
|
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)
|
rs727504730
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_012064.4(MIP):c.*136T>G
|
rs1481521864
|
0.00003
|
NM_012064.4(MIP):c.*542C>T
|
rs1400800798
|
0.00003
|
NM_012064.4(MIP):c.*955G>A
|
rs1043213686
|
0.00003
|
NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys)
|
rs1057518738
|
0.00003
|
NM_017541.4(CRYGS):c.236G>A (p.Arg79His)
|
rs764969189
|
0.00003
|
NM_018238.4(AGK):c.*241A>G
|
rs914935906
|
0.00003
|
NM_018238.4(AGK):c.221+9G>A
|
rs200123164
|
0.00003
|
NM_018238.4(AGK):c.257C>G (p.Pro86Arg)
|
rs762680550
|
0.00003
|
NM_018238.4(AGK):c.589-20G>T
|
rs751876434
|
0.00003
|
NM_021954.4(GJA3):c.*1232T>C
|
rs886050013
|
0.00003
|
NM_021954.4(GJA3):c.*3108C>T
|
rs886050006
|
0.00003
|
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)
|
rs747097789
|
0.00003
|
NM_024513.4(FYCO1):c.*132C>T
|
rs886058563
|
0.00003
|
NM_024513.4(FYCO1):c.2389G>A (p.Ala797Thr)
|
rs751988341
|
0.00003
|
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg)
|
rs751793566
|
0.00003
|
NM_024513.4(FYCO1):c.2844G>A (p.Glu948=)
|
rs182162227
|
0.00003
|
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg)
|
rs149020169
|
0.00003
|
NM_024513.4(FYCO1):c.833G>A (p.Arg278Lys)
|
rs753095430
|
0.00003
|
NM_024513.4(FYCO1):c.868C>T (p.Arg290Cys)
|
rs760164181
|
0.00003
|
NM_176812.5(CHMP4B):c.240G>A (p.Ala80=)
|
rs774485925
|
0.00003
|
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala)
|
rs765835212
|
0.00003
|
NM_001161748.2(LIM2):c.-41G>A
|
rs539594698
|
0.00002
|
NM_001161748.2(LIM2):c.24C>T (p.Gly8=)
|
rs147551022
|
0.00002
|
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln)
|
rs765144287
|
0.00002
|
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala)
|
rs756439203
|
0.00002
|
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile)
|
rs752902567
|
0.00002
|
NM_001374675.1(HSF4):c.1255-2A>G
|
rs1456161420
|
0.00002
|
NM_001374675.1(HSF4):c.1325-1G>T
|
rs142731757
|
0.00002
|
NM_001374675.1(HSF4):c.741G>A (p.Glu247=)
|
rs373435397
|
0.00002
|
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser)
|
rs372922337
|
0.00002
|
NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys)
|
rs374800624
|
0.00002
|
NM_001887.4(CRYBB1):c.357C>T (p.Gly119=)
|
rs763685652
|
0.00002
|
NM_003380.5(VIM):c.1141C>T (p.Arg381Cys)
|
rs749084801
|
0.00002
|
NM_003571.4(BFSP2):c.-4G>A
|
rs534216602
|
0.00002
|
NM_003571.4(BFSP2):c.24G>A (p.Val8=)
|
rs777311531
|
0.00002
|
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr)
|
rs754811534
|
0.00002
|
NM_003571.4(BFSP2):c.396G>A (p.Leu132=)
|
rs373365813
|
0.00002
|
NM_003571.4(BFSP2):c.522C>T (p.Leu174=)
|
rs375822049
|
0.00002
|
NM_004076.5(CRYBB3):c.327+13C>T
|
rs1013210463
|
0.00002
|
NM_004431.5(EPHA2):c.*624C>T
|
rs886045503
|
0.00002
|
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His)
|
rs988452109
|
0.00002
|
NM_004431.5(EPHA2):c.1429-4A>G
|
rs374403114
|
0.00002
|
NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val)
|
rs140392218
|
0.00002
|
NM_004431.5(EPHA2):c.303T>C (p.Thr101=)
|
rs779193586
|
0.00002
|
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu)
|
rs747087417
|
0.00002
|
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val)
|
rs372094298
|
0.00002
|
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=)
|
rs755489260
|
0.00002
|
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr)
|
rs767998582
|
0.00002
|
NM_006005.3(WFS1):c.1550G>A (p.Arg517His)
|
rs150394063
|
0.00002
|
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2125G>A (p.Val709Met)
|
rs761216725
|
0.00002
|
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr)
|
rs563972671
|
0.00002
|
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)
|
rs199769524
|
0.00002
|
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
|
rs200528166
|
0.00002
|
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)
|
rs367547063
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr)
|
rs1252423572
|
0.00002
|
NM_006005.3(WFS1):c.401C>T (p.Ala134Val)
|
rs746010848
|
0.00002
|
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr)
|
rs760226129
|
0.00002
|
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe)
|
rs71537678
|
0.00002
|
NM_012064.4(MIP):c.*49G>A
|
rs746044208
|
0.00002
|
NM_012064.4(MIP):c.*793C>A
|
rs891386760
|
0.00002
|
NM_012064.4(MIP):c.424G>A (p.Val142Met)
|
rs966166555
|
0.00002
|
NM_018238.4(AGK):c.*1319G>A
|
rs535922151
|
0.00002
|
NM_018238.4(AGK):c.*758T>C
|
rs1345762130
|
0.00002
|
NM_018238.4(AGK):c.-36G>A
|
rs570988835
|
0.00002
|
NM_018238.4(AGK):c.243A>G (p.Glu81=)
|
rs745864268
|
0.00002
|
NM_018238.4(AGK):c.401G>A (p.Gly134Asp)
|
rs568195338
|
0.00002
|
NM_018238.4(AGK):c.562G>A (p.Val188Ile)
|
rs747244579
|
0.00002
|
NM_018238.4(AGK):c.63G>C (p.Leu21=)
|
rs779484397
|
0.00002
|
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)
|
rs771945804
|
0.00002
|
NM_018378.3(FBXL8):c.*248A>G
|
rs886052213
|
0.00002
|
NM_018378.3(FBXL8):c.781G>C (p.Ala261Pro)
|
rs936318443
|
0.00002
|
NM_021954.4(GJA3):c.*1535C>T
|
rs1190517873
|
0.00002
|
NM_021954.4(GJA3):c.*2079A>G
|
rs886050010
|
0.00002
|
NM_021954.4(GJA3):c.*3609G>A
|
rs767584645
|
0.00002
|
NM_021954.4(GJA3):c.522G>A (p.Glu174=)
|
rs772086761
|
0.00002
|
NM_024513.4(FYCO1):c.*1411G>A
|
rs868776572
|
0.00002
|
NM_024513.4(FYCO1):c.*2741G>A
|
rs886058554
|
0.00002
|
NM_024513.4(FYCO1):c.1677G>A (p.Pro559=)
|
rs928579946
|
0.00002
|
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)
|
rs387906964
|
0.00002
|
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=)
|
rs367690473
|
0.00002
|
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)
|
rs748985200
|
0.00002
|
NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser)
|
rs568547927
|
0.00002
|
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
|
rs55940927
|
0.00002
|
NM_001161748.2(LIM2):c.*291T>C
|
rs932195033
|
0.00001
|
NM_001161748.2(LIM2):c.-7+14G>A
|
rs568064524
|
0.00001
|
NM_001161748.2(LIM2):c.174C>T (p.Ile58=)
|
rs776429566
|
0.00001
|
NM_001161748.2(LIM2):c.175+30G>A
|
rs376861251
|
0.00001
|
NM_001161748.2(LIM2):c.175+56C>T
|
rs560748825
|
0.00001
|
NM_001161748.2(LIM2):c.175+87A>G
|
rs369343996
|
0.00001
|
NM_001161748.2(LIM2):c.313T>G (p.Phe105Val)
|
rs121913555
|
0.00001
|
NM_001161748.2(LIM2):c.333C>T (p.Phe111=)
|
rs566729340
|
0.00001
|
NM_001161748.2(LIM2):c.357C>T (p.Tyr119=)
|
rs761154589
|
0.00001
|
NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln)
|
rs191407731
|
0.00001
|
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln)
|
rs780229198
|
0.00001
|
NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=)
|
rs760220303
|
0.00001
|
NM_001195.5(BFSP1):c.735+19C>T
|
rs747126284
|
0.00001
|
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)
|
rs1246080692
|
0.00001
|
NM_001289808.2(CRYAB):c.*60G>A
|
rs540926728
|
0.00001
|
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)
|
rs886047688
|
0.00001
|
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)
|
rs1264081192
|
0.00001
|
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp)
|
rs1555165555
|
0.00001
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)
|
rs781915800
|
0.00001
|
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu)
|
rs759834255
|
0.00001
|
NM_001374675.1(HSF4):c.-23C>T
|
rs760188385
|
0.00001
|
NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser)
|
rs932918368
|
0.00001
|
NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala)
|
rs760918985
|
0.00001
|
NM_001374675.1(HSF4):c.1315C>T (p.Pro439Ser)
|
rs777720209
|
0.00001
|
NM_001374675.1(HSF4):c.1395C>A (p.Gly465=)
|
rs28364624
|
0.00001
|
NM_001374675.1(HSF4):c.203T>C (p.Met68Thr)
|
rs751405773
|
0.00001
|
NM_001374675.1(HSF4):c.401A>T (p.Glu134Val)
|
rs368518618
|
0.00001
|
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly)
|
rs753084587
|
0.00001
|
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)
|
rs770940749
|
0.00001
|
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs)
|
rs949335475
|
0.00001
|
NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr)
|
rs776573050
|
0.00001
|
NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu)
|
rs1305546354
|
0.00001
|
NM_001886.3(CRYBA4):c.40-7G>T
|
rs764078479
|
0.00001
|
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu)
|
rs780358100
|
0.00001
|
NM_001886.3(CRYBA4):c.81C>T (p.His27=)
|
rs138148141
|
0.00001
|
NM_001887.4(CRYBB1):c.294G>A (p.Ala98=)
|
rs760235124
|
0.00001
|
NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys)
|
rs762762177
|
0.00001
|
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)
|
rs370514627
|
0.00001
|
NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu)
|
rs886057326
|
0.00001
|
NM_001887.4(CRYBB1):c.576-3C>A
|
rs142497666
|
0.00001
|
NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser)
|
rs762942964
|
0.00001
|
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)
|
rs561449819
|
0.00001
|
NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)
|
rs764098604
|
0.00001
|
NM_003380.5(VIM):c.134G>A (p.Arg45His)
|
rs778098458
|
0.00001
|
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr)
|
rs773938980
|
0.00001
|
NM_003380.5(VIM):c.99G>T (p.Thr33=)
|
rs531385322
|
0.00001
|
NM_003571.4(BFSP2):c.*209C>T
|
rs150374124
|
0.00001
|
NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro)
|
rs200208769
|
0.00001
|
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg)
|
rs746239628
|
0.00001
|
NM_003571.4(BFSP2):c.285C>T (p.Thr95=)
|
rs748115575
|
0.00001
|
NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro)
|
rs886058011
|
0.00001
|
NM_003571.4(BFSP2):c.730-7T>C
|
rs75746794
|
0.00001
|
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)
|
rs104893685
|
0.00001
|
NM_004076.5(CRYBB3):c.*143C>T
|
rs886057294
|
0.00001
|
NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe)
|
rs1232309133
|
0.00001
|
NM_004076.5(CRYBB3):c.328-8G>A
|
rs756648232
|
0.00001
|
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys)
|
rs375275387
|
0.00001
|
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)
|
rs1203386884
|
0.00001
|
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His)
|
rs374984300
|
0.00001
|
NM_004076.5(CRYBB3):c.51T>C (p.His17=)
|
rs1449380333
|
0.00001
|
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln)
|
rs200791666
|
0.00001
|
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp)
|
rs752618205
|
0.00001
|
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=)
|
rs373954142
|
0.00001
|
NM_004431.5(EPHA2):c.*273G>A
|
rs1208362952
|
0.00001
|
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His)
|
rs761928478
|
0.00001
|
NM_004431.5(EPHA2):c.1062C>T (p.Ser354=)
|
rs781610786
|
0.00001
|
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg)
|
rs1253625963
|
0.00001
|
NM_004431.5(EPHA2):c.1312+10del
|
rs751606166
|
0.00001
|
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=)
|
rs774658304
|
0.00001
|
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=)
|
rs763210348
|
0.00001
|
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu)
|
rs548968171
|
0.00001
|
NM_004431.5(EPHA2):c.1814C>T (p.Thr605Ile)
|
rs753345828
|
0.00001
|
NM_004431.5(EPHA2):c.1950C>T (p.Ala650=)
|
rs370135733
|
0.00001
|
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys)
|
rs765261745
|
0.00001
|
NM_004431.5(EPHA2):c.2030G>A (p.Arg677His)
|
rs145962326
|
0.00001
|
NM_004431.5(EPHA2):c.2116-9C>T
|
rs753038083
|
0.00001
|
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly)
|
rs2024583180
|
0.00001
|
NM_004431.5(EPHA2):c.2326-4G>A
|
rs781762535
|
0.00001
|
NM_004431.5(EPHA2):c.2353G>A (p.Ala785Thr)
|
rs766078852
|
0.00001
|
NM_004431.5(EPHA2):c.441C>T (p.Pro147=)
|
rs778278534
|
0.00001
|
NM_004431.5(EPHA2):c.524G>A (p.Arg175His)
|
rs759687964
|
0.00001
|
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys)
|
rs368758045
|
0.00001
|
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met)
|
rs754323552
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu)
|
rs745991398
|
0.00001
|
NM_005208.5(CRYBA1):c.357+7C>T
|
rs1473744071
|
0.00001
|
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys)
|
rs1380012052
|
0.00001
|
NM_005208.5(CRYBA1):c.500+17G>A
|
rs761853246
|
0.00001
|
NM_005210.4(CRYGB):c.312A>G (p.Ser104=)
|
rs200750137
|
0.00001
|
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro)
|
rs1045592971
|
0.00001
|
NM_005210.4(CRYGB):c.513C>T (p.Val171=)
|
rs541388467
|
0.00001
|
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)
|
rs775799498
|
0.00001
|
NM_005360.5(MAF):c.942C>T (p.His314=)
|
rs765806184
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly)
|
rs771498413
|
0.00001
|
NM_006005.3(WFS1):c.1179C>T (p.Ala393=)
|
rs746433560
|
0.00001
|
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu)
|
rs935411471
|
0.00001
|
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)
|
rs775039116
|
0.00001
|
NM_006005.3(WFS1):c.1365G>A (p.Thr455=)
|
rs769749907
|
0.00001
|
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)
|
rs727503750
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val)
|
rs201557396
|
0.00001
|
NM_006005.3(WFS1):c.1560G>A (p.Gln520=)
|
rs776513501
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala)
|
rs760990181
|
0.00001
|
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr)
|
rs876658118
|
0.00001
|
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser)
|
rs1432704019
|
0.00001
|
NM_006005.3(WFS1):c.2108G>A (p.Arg703His)
|
rs1323852277
|
0.00001
|
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr)
|
rs146418094
|
0.00001
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
NM_006005.3(WFS1):c.2286G>A (p.Lys762=)
|
rs200663929
|
0.00001
|
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly)
|
rs752023481
|
0.00001
|
NM_006005.3(WFS1):c.2388C>T (p.Asp796=)
|
rs71532868
|
0.00001
|
NM_006005.3(WFS1):c.2407G>A (p.Val803Met)
|
rs745988826
|
0.00001
|
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)
|
rs756972444
|
0.00001
|
NM_006005.3(WFS1):c.2495G>A (p.Arg832His)
|
rs141816346
|
0.00001
|
NM_006005.3(WFS1):c.33C>A (p.Ser11=)
|
rs1185590827
|
0.00001
|
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg)
|
rs763992743
|
0.00001
|
NM_006005.3(WFS1):c.527T>C (p.Val176Ala)
|
rs772915458
|
0.00001
|
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)
|
rs776685250
|
0.00001
|
NM_006005.3(WFS1):c.593C>T (p.Ala198Val)
|
rs142687752
|
0.00001
|
NM_006005.3(WFS1):c.631+5G>A
|
rs863224261
|
0.00001
|
NM_006005.3(WFS1):c.641C>T (p.Ala214Val)
|
rs750861249
|
0.00001
|
NM_006005.3(WFS1):c.686T>C (p.Met229Thr)
|
rs774525063
|
0.00001
|
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)
|
rs727503747
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln)
|
rs551867477
|
0.00001
|
NM_006005.3(WFS1):c.816C>T (p.Asp272=)
|
rs762774307
|
0.00001
|
NM_006005.3(WFS1):c.862G>A (p.Val288Met)
|
rs71537685
|
0.00001
|
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)
|
rs564413149
|
0.00001
|
NM_012064.4(MIP):c.*661C>T
|
rs1470004718
|
0.00001
|
NM_012064.4(MIP):c.119A>G (p.His40Arg)
|
rs1436119727
|
0.00001
|
NM_012064.4(MIP):c.361-10C>T
|
rs886049693
|
0.00001
|
NM_012064.4(MIP):c.694G>C (p.Glu232Gln)
|
rs773085032
|
0.00001
|
NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter)
|
rs756898971
|
0.00001
|
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys)
|
rs1035614113
|
0.00001
|
NM_018238.4(AGK):c.*1067T>G
|
rs1797627785
|
0.00001
|
NM_018238.4(AGK):c.*125C>T
|
rs1211083355
|
0.00001
|
NM_018238.4(AGK):c.*265G>A
|
rs886062022
|
0.00001
|
NM_018238.4(AGK):c.*58G>A
|
rs562245960
|
0.00001
|
NM_018238.4(AGK):c.*662A>G
|
rs760797830
|
0.00001
|
NM_018238.4(AGK):c.*97G>T
|
rs1474393370
|
0.00001
|
NM_018238.4(AGK):c.1197G>A (p.Leu399=)
|
rs139412235
|
0.00001
|
NM_018238.4(AGK):c.297+3A>G
|
rs972525482
|
0.00001
|
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)
|
rs746709222
|
0.00001
|
NM_018238.4(AGK):c.412C>T (p.Arg138Ter)
|
rs1199705359
|
0.00001
|
NM_018238.4(AGK):c.498C>T (p.Ala166=)
|
rs748557845
|
0.00001
|
NM_018238.4(AGK):c.511A>G (p.Lys171Glu)
|
rs771035261
|
0.00001
|
NM_018238.4(AGK):c.619A>G (p.Thr207Ala)
|
rs561898521
|
0.00001
|
NM_018238.4(AGK):c.637T>C (p.Ser213Pro)
|
rs886062019
|
0.00001
|
NM_018238.4(AGK):c.863C>T (p.Ala288Val)
|
rs763068104
|
0.00001
|
NM_018238.4(AGK):c.880C>A (p.Leu294Ile)
|
rs139547145
|
0.00001
|
NM_018238.4(AGK):c.881T>C (p.Leu294Pro)
|
rs863223893
|
0.00001
|
NM_018378.3(FBXL8):c.822C>T (p.Ala274=)
|
rs1332713508
|
0.00001
|
NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)
|
rs777343855
|
0.00001
|
NM_021954.4(GJA3):c.*2340A>G
|
rs1008861631
|
0.00001
|
NM_021954.4(GJA3):c.*3210A>G
|
rs779184721
|
0.00001
|
NM_021954.4(GJA3):c.*647G>A
|
rs549434985
|
0.00001
|
NM_021954.4(GJA3):c.*691G>A
|
rs560674293
|
0.00001
|
NM_021954.4(GJA3):c.-98G>A
|
rs935261635
|
0.00001
|
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu)
|
rs886050020
|
0.00001
|
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp)
|
rs1958811300
|
0.00001
|
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)
|
rs1477019809
|
0.00001
|
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln)
|
rs753251437
|
0.00001
|
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly)
|
rs886050023
|
0.00001
|
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)
|
rs140332366
|
0.00001
|
NM_021954.4(GJA3):c.655A>G (p.Met219Val)
|
rs746511873
|
0.00001
|
NM_021954.4(GJA3):c.84G>A (p.Val28=)
|
rs531379398
|
0.00001
|
NM_024513.4(FYCO1):c.*1211C>A
|
rs541087301
|
0.00001
|
NM_024513.4(FYCO1):c.*3006G>A
|
rs970550677
|
0.00001
|
NM_024513.4(FYCO1):c.*3283G>A
|
rs886058551
|
0.00001
|
NM_024513.4(FYCO1):c.*59C>G
|
rs1703099079
|
0.00001
|
NM_024513.4(FYCO1):c.*620G>A
|
rs886058562
|
0.00001
|
NM_024513.4(FYCO1):c.108G>A (p.Thr36=)
|
rs558777911
|
0.00001
|
NM_024513.4(FYCO1):c.1098C>T (p.Ala366=)
|
rs201904937
|
0.00001
|
NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr)
|
rs886058570
|
0.00001
|
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr)
|
rs752338309
|
0.00001
|
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)
|
rs768945306
|
0.00001
|
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=)
|
rs746026639
|
0.00001
|
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=)
|
rs552928719
|
0.00001
|
NM_024513.4(FYCO1):c.2334G>A (p.Leu778=)
|
rs369350326
|
0.00001
|
NM_024513.4(FYCO1):c.2399G>A (p.Arg800Gln)
|
rs773582689
|
0.00001
|
NM_024513.4(FYCO1):c.241G>A (p.Val81Met)
|
rs1167055520
|
0.00001
|
NM_024513.4(FYCO1):c.2507C>A (p.Ala836Asp)
|
rs766825040
|
0.00001
|
NM_024513.4(FYCO1):c.2552G>A (p.Arg851His)
|
rs145893350
|
0.00001
|
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=)
|
rs1575368474
|
0.00001
|
NM_024513.4(FYCO1):c.297A>T (p.Thr99=)
|
rs779232144
|
0.00001
|
NM_024513.4(FYCO1):c.3150+1G>T
|
rs766522434
|
0.00001
|
NM_024513.4(FYCO1):c.3413A>G (p.Glu1138Gly)
|
rs886058566
|
0.00001
|
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp)
|
rs1346321563
|
0.00001
|
NM_024513.4(FYCO1):c.3587G>C (p.Arg1196Thr)
|
rs1705557579
|
0.00001
|
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His)
|
rs775657304
|
0.00001
|
NM_024513.4(FYCO1):c.3809C>T (p.Thr1270Ile)
|
rs775300505
|
0.00001
|
NM_024513.4(FYCO1):c.3959C>A (p.Thr1320Asn)
|
rs201278075
|
0.00001
|
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys)
|
rs776739152
|
0.00001
|
NM_024513.4(FYCO1):c.4254C>A (p.Val1418=)
|
rs1553620269
|
0.00001
|
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile)
|
rs150218695
|
0.00001
|
NM_024513.4(FYCO1):c.816G>A (p.Glu272=)
|
rs375970181
|
0.00001
|
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val)
|
rs762929660
|
0.00001
|
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys)
|
rs786205577
|
0.00001
|
NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter)
|
rs754060575
|
0.00001
|
NC_000001.10:g.(?_16451710)_(16532835_?)del
|
|
|
NC_000001.10:g.(?_16460943)_(16482447_?)dup
|
|
|
NC_000002.12:g.208146167G>A
|
rs2289917
|
|
NC_000006.11:g.(?_10398650)_(10882026_?)dup
|
|
|
NC_000006.11:g.(?_10556657)_(10626840_?)del
|
|
|
NC_000006.12:g.(?_10528892)_(10557362_?)del
|
|
|
NC_000006.12:g.(?_10556404)_(10626627_?)del
|
|
|
NC_000007.13:g.(?_141255267)_(141301100_?)del
|
|
|
NC_000007.13:g.(?_141255267)_(141352724_?)dup
|
|
|
NC_000007.13:g.(?_141292926)_(141293005_?)del
|
|
|
NC_000007.13:g.(?_141292926)_(141293005_?)dup
|
|
|
NC_000013.10:g.(?_20716100)_(20717447_?)dup
|
|
|
NC_000013.11:g.(?_20141961)_(20824841_?)del
|
|
|
NC_000016.10:g.(?_78278583)_(80589366_?)del
|
|
|
NC_000016.10:g.(?_79594440)_(79599922_?)del
|
|
|
NC_000016.9:g.(?_65821800)_(67208957_?)del
|
|
|
NC_000017.10:g.(?_27579473)_(27581294_?)del
|
|
|
NC_000020.10:g.(?_17462209)_(17511974_?)dup
|
|
|
NC_000022.10:g.(?_25601167)_(25601349_?)dup
|
|
|
NC_000022.10:g.(?_26142492)_(27026451_?)del
|
|
|
NC_000022.10:g.(?_26995454)_(26995657_?)del
|
|
|
NHS, 500-KB TRIPLICATION
|
|
|
NM_001161748.2(LIM2):c.*218C>G
|
rs886054600
|
|
NM_001161748.2(LIM2):c.*58G>A
|
rs569373539
|
|
NM_001161748.2(LIM2):c.-27C>A
|
rs113926789
|
|
NM_001161748.2(LIM2):c.-27C>T
|
rs113926789
|
|
NM_001161748.2(LIM2):c.-29C>G
|
rs886054601
|
|
NM_001161748.2(LIM2):c.100T>A (p.Ser34Thr)
|
rs76269472
|
|
NM_001161748.2(LIM2):c.141G>C (p.Leu47=)
|
rs1987093521
|
|
NM_001161748.2(LIM2):c.144C>T (p.Gly48=)
|
|
|
NM_001161748.2(LIM2):c.175+46G>A
|
rs1987086753
|
|
NM_001161748.2(LIM2):c.222C>T (p.Cys74=)
|
|
|
NM_001161748.2(LIM2):c.321del (p.Ser108fs)
|
rs1986917705
|
|
NM_001161748.2(LIM2):c.337G>A (p.Val113Met)
|
rs73934370
|
|
NM_001161748.2(LIM2):c.337G>C (p.Val113Leu)
|
rs73934370
|
|
NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)
|
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter)
|
rs1212925287
|
|
NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)
|
|
|
NM_001161748.2(LIM2):c.460+13A>T
|
|
|
NM_001161748.2(LIM2):c.460+19G>C
|
|
|
NM_001161748.2(LIM2):c.460+9G>A
|
rs1568480003
|
|
NM_001161748.2(LIM2):c.461-15C>A
|
|
|
NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu)
|
rs869312732
|
|
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
|
|
|
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
|
|
|
NM_001195.5(BFSP1):c.1042+3A>G
|
rs1085307127
|
|
NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)
|
rs1085307126
|
|
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)
|
rs886038419
|
|
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)
|
|
|
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)
|
|
|
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)
|
|
|
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)
|
|
|
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)
|
|
|
NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu)
|
rs767136257
|
|
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)
|
|
|
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=)
|
rs6080718
|
|
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=)
|
rs6080718
|
|
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)
|
|
|
NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)
|
|
|
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)
|
|
|
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs)
|
rs1555799947
|
|
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)
|
|
|
NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)
|
rs2123536475
|
|
NM_001195.5(BFSP1):c.30C>T (p.Thr10=)
|
|
|
NM_001195.5(BFSP1):c.366G>A (p.Glu122=)
|
|
|
NM_001195.5(BFSP1):c.378-16T>C
|
rs1600661739
|
|
NM_001195.5(BFSP1):c.384A>G (p.Glu128=)
|
|
|
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)
|
|
|
NM_001195.5(BFSP1):c.535-42G>A
|
rs1559956
|
|
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)
|
|
|
NM_001195.5(BFSP1):c.561C>T (p.Ile187=)
|
|
|
NM_001195.5(BFSP1):c.628-14C>T
|
|
|
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)
|
|
|
NM_001195.5(BFSP1):c.736-1384_957-66del
|
|
|
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)
|
|
|
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)
|
|
|
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)
|
|
|
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)
|
|
|
NM_001195.5(BFSP1):c.93C>A (p.Ala31=)
|
|
|
NM_001195.5(BFSP1):c.956+7G>C
|
rs202146533
|
|
NM_001195.5(BFSP1):c.957-3C>T
|
|
|
NM_001267052.2(UNC45B):c.2209G>T (p.Ala737Ser)
|
rs572473522
|
|
NM_001289808.2(CRYAB):c.*107A>G
|
rs886047686
|
|
NM_001289808.2(CRYAB):c.*38G>C
|
rs781853968
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)
|
rs794728982
|
|
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)
|
rs1555165546
|
|
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)
|
rs782520163
|
|
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)
|
rs781902168
|
|
NM_001289808.2(CRYAB):c.324+13dup
|
rs782303631
|
|
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)
|
rs886047687
|
|
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)
|
rs387907336
|
|
NM_001289808.2(CRYAB):c.450del (p.Lys150fs)
|
rs1566402656
|
|
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)
|
rs1592506005
|
|
NM_001289808.2(CRYAB):c.525del (p.Lys175fs)
|
rs2137378244
|
|
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)
|
rs387907337
|
|
NM_001291867.2(NHS):c.1108+1G>A
|
|
|
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)
|
rs797045739
|
|
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro)
|
rs794727936
|
|
NM_001291867.2(NHS):c.566-10dup
|
rs5901624
|
|
NM_001291867.2(NHS):c.566-154020_566-149209del
|
|
|
NM_001291867.2(NHS):c.566-52355A>G
|
|
|
NM_001291867.2(NHS):c.853-2A>C
|
|
|
NM_001374675.1(HSF4):c.104A>G (p.His35Arg)
|
rs2031129932
|
|
NM_001374675.1(HSF4):c.1075C>A (p.Pro359Thr)
|
rs886052216
|
|
NM_001374675.1(HSF4):c.1162dup (p.Ser388fs)
|
rs2145927381
|
|
NM_001374675.1(HSF4):c.1324+8T>A
|
rs2145929301
|
|
NM_001374675.1(HSF4):c.1341C>G (p.Leu447=)
|
rs35750776
|
|
NM_001374675.1(HSF4):c.1475C>A (p.Pro492His)
|
rs182365484
|
|
NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)
|
|
|
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
|
|
|
NM_001374675.1(HSF4):c.195T>A (p.His65Gln)
|
rs2031203646
|
|
NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp)
|
rs2031203924
|
|
NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)
|
|
|
NM_001374675.1(HSF4):c.232+4A>G
|
rs1567668314
|
|
NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)
|
rs121909050
|
|
NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)
|
|
|
NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly)
|
rs886052215
|
|
NM_001374675.1(HSF4):c.330C>G (p.Arg110=)
|
rs754881447
|
|
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
|
|
|
NM_001374675.1(HSF4):c.341T>C (p.Leu114Pro)
|
rs121909048
|
|
NM_001374675.1(HSF4):c.350T>G (p.Val117Gly)
|
rs1555549881
|
|
NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp)
|
rs1567668570
|
|
NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)
|
|
|
NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)
|
rs28937573
|
|
NM_001374675.1(HSF4):c.360G>A (p.Lys120=)
|
|
|
NM_001374675.1(HSF4):c.361-17G>A
|
|
|
NM_001374675.1(HSF4):c.392G>A (p.Trp131Ter)
|
rs2145920428
|
|
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)
|
|
|
NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)
|
|
|
NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg)
|
rs1567668765
|
|
NM_001374675.1(HSF4):c.561+16del
|
|
|
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)
|
|
|
NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp)
|
rs121909049
|
|
NM_001374675.1(HSF4):c.594G>T (p.Ala198=)
|
rs763541172
|
|
NM_001374675.1(HSF4):c.627-2A>G
|
|
|
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)
|
|
|
NM_001374675.1(HSF4):c.730-22G>A
|
|
|
NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)
|
|
|
NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)
|
|
|
NM_001374675.1(HSF4):c.89del (p.Asp30fs)
|
rs1555549755
|
|
NM_001374675.1(HSF4):c.965dup (p.Pro323fs)
|
rs776129797
|
|
NM_001491.2(GCNT2):c.-117_*41del
|
|
|
NM_001491.3(GCNT2):c.259_262del (p.Ser87fs)
|
rs1085307067
|
|
NM_001491.3(GCNT2):c.558C>T (p.Ile186=)
|
rs763988372
|
|
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
|
|
|
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val)
|
rs1554129925
|
|
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
|
|
|
NM_001491.3(GCNT2):c.760del (p.His254fs)
|
|
|
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg)
|
rs771422892
|
|
NM_001538.4(HSF4):c.-354C>A
|
rs886052214
|
|
NM_001886.3(CRYBA4):c.108G>A (p.Val36=)
|
|
|
NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro)
|
rs1929601316
|
|
NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer)
|
rs2145979078
|
|
NM_001886.3(CRYBA4):c.159-21_159-20inv
|
|
|
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
|
|
|
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val)
|
rs1929674480
|
|
NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp)
|
rs1114167427
|
|
NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis)
|
rs1929675709
|
|
NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro)
|
rs74315487
|
|
NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter)
|
rs199635152
|
|
NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser)
|
rs1929676368
|
|
NM_001886.3(CRYBA4):c.258C>T (p.Tyr86=)
|
|
|
NM_001886.3(CRYBA4):c.277T>C (p.Ser93Pro)
|
rs2145980854
|
|
NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)
|
|
|
NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser)
|
rs74315486
|
|
NM_001886.3(CRYBA4):c.300+1del
|
|
|
NM_001886.3(CRYBA4):c.318G>A (p.Arg106=)
|
|
|
NM_001886.3(CRYBA4):c.345C>T (p.Phe115=)
|
|
|
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
|
|
|
NM_001886.3(CRYBA4):c.384C>T (p.Ser128=)
|
|
|
NM_001886.3(CRYBA4):c.40-11T>C
|
|
|
NM_001886.3(CRYBA4):c.40-11del
|
|
|
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
|
|
|
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
|
|
|
NM_001886.3(CRYBA4):c.510C>T (p.Ser170=)
|
|
|
NM_001886.3(CRYBA4):c.540C>A (p.Gly180=)
|
|
|
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro)
|
rs758790937
|
|
NM_001886.3(CRYBA4):c.60C>T (p.Asp20=)
|
|
|
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser)
|
rs1602338380
|
|
NM_001886.3(CRYBA4):c.89C>T (p.Thr30Met)
|
|
|
NM_001886.3(CRYBA4):c.90G>A (p.Thr30=)
|
|
|
NM_001887.4(CRYBB1):c.-58C>T
|
rs886057327
|
|
NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr)
|
rs1929353737
|
|
NM_001887.4(CRYBB1):c.155C>A (p.Ala52Glu)
|
rs533765538
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter)
|
rs762814574
|
|
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=)
|
rs1569206910
|
|
NM_001887.4(CRYBB1):c.275G>A (p.Arg92His)
|
rs750427170
|
|
NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu)
|
rs144372140
|
|
NM_001887.4(CRYBB1):c.299+16C>A
|
rs57400078
|
|
NM_001887.4(CRYBB1):c.300-9T>G
|
rs1929039318
|
|
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
|
|
|
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
|
|
|
NM_001887.4(CRYBB1):c.37G>A (p.Val13Met)
|
rs747901309
|
|
NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg)
|
rs1114167433
|
|
NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly)
|
rs148083686
|
|
NM_001887.4(CRYBB1):c.419G>C (p.Arg140Pro)
|
rs752315498
|
|
NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu)
|
rs764907340
|
|
NM_001887.4(CRYBB1):c.432+5G>C
|
rs1555940959
|
|
NM_001887.4(CRYBB1):c.508G>C (p.Asp170His)
|
|
|
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
|
|
|
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs)
|
rs1569203234
|
|
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
|
|
|
NM_001887.4(CRYBB1):c.63C>A (p.Thr21=)
|
rs1371584623
|
|
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
|
|
|
NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter)
|
rs74315488
|
|
NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)
|
|
|
NM_001887.4(CRYBB1):c.698G>A (p.Arg233His)
|
|
|
NM_001887.4(CRYBB1):c.712dup (p.His238fs)
|
rs1602319108
|
|
NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)
|
|
|
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)
|
rs1114167432
|
|
NM_002340.6(LSS):c.1228T>C (p.Cys410Arg)
|
rs2080101374
|
|
NM_002340.6(LSS):c.1741T>C (p.Trp581Arg)
|
rs864622780
|
|
NM_002340.6(LSS):c.181-16_181-15del
|
rs10550493
|
|
NM_002340.6(LSS):c.181-27dup
|
rs10550493
|
|
NM_002340.6(LSS):c.347G>A (p.Arg116His)
|
rs146421852
|
|
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
|
|
|
NM_003380.5(VIM):c.1122G>A (p.Glu374=)
|
|
|
NM_003380.5(VIM):c.1360-18G>T
|
|
|
NM_003380.5(VIM):c.1360-7del
|
|
|
NM_003380.5(VIM):c.1360-7dup
|
rs750651760
|
|
NM_003380.5(VIM):c.1368C>T (p.Asn456=)
|
|
|
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
|
|
|
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs)
|
rs1846907790
|
|
NM_003380.5(VIM):c.15del (p.Val6fs)
|
rs864309690
|
|
NM_003380.5(VIM):c.423A>G (p.Gln141=)
|
rs2131679660
|
|
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
|
|
|
NM_003380.5(VIM):c.468G>C (p.Glu156Asp)
|
rs1846752790
|
|
NM_003380.5(VIM):c.46G>A (p.Gly16Ser)
|
rs773471865
|
|
NM_003380.5(VIM):c.563+15A>C
|
|
|
NM_003380.5(VIM):c.598G>C (p.Glu200Gln)
|
rs1037734535
|
|
NM_003380.5(VIM):c.623A>G (p.Gln208Arg)
|
rs1085307141
|
|
NM_003380.5(VIM):c.624+17C>G
|
|
|
NM_003380.5(VIM):c.624+7A>C
|
rs376197279
|
|
NM_003380.5(VIM):c.624+7A>G
|
|
|
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
|
|
|
NM_003380.5(VIM):c.720+18C>T
|
rs7096093
|
|
NM_003380.5(VIM):c.807G>T (p.Leu269=)
|
rs745874397
|
|
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
|
|
|
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)
|
|
|
NM_003380.5(VIM):c.882+20G>A
|
|
|
NM_003380.5(VIM):c.990G>C (p.Val330=)
|
|
|
NM_003571.4(BFSP2):c.*225G>A
|
rs2074202598
|
|
NM_003571.4(BFSP2):c.*226C>A
|
rs574253958
|
|
NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly)
|
rs144693104
|
|
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
|
|
|
NM_003571.4(BFSP2):c.1244+8T>C
|
rs2074175378
|
|
NM_003571.4(BFSP2):c.166del (p.Val56fs)
|
rs1576552712
|
|
NM_003571.4(BFSP2):c.185C>A (p.Pro62His)
|
|
|
NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)
|
|
|
NM_003571.4(BFSP2):c.215G>A (p.Arg72His)
|
|
|
NM_003571.4(BFSP2):c.251dup (p.Leu85fs)
|
rs886058008
|
|
NM_003571.4(BFSP2):c.27C>G (p.Asp9Glu)
|
|
|
NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del)
|
rs2107871422
|
|
NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala)
|
rs886058009
|
|
NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu)
|
rs148759360
|
|
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
|
|
|
NM_003571.4(BFSP2):c.461G>T (p.Arg154Leu)
|
|
|
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp)
|
rs375380005
|
|
NM_003571.4(BFSP2):c.567A>G (p.Lys189=)
|
rs886058010
|
|
NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly)
|
rs2073924367
|
|
NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer)
|
rs768745697
|
|
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)
|
rs121908938
|
|
NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys)
|
rs886058012
|
|
NM_003571.4(BFSP2):c.859C>A (p.Arg287=)
|
rs104893685
|
|
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
|
|
|
NM_003571.4(BFSP2):c.888T>G (p.Ala296=)
|
rs199694156
|
|
NM_003571.4(BFSP2):c.918C>G (p.Ser306=)
|
rs1157387539
|
|
NM_004076.4(CRYBB3):c.[493G>C];[493G>C]
|
rs74315490
|
|
NM_004076.5(CRYBB3):c.*103C>T
|
rs886057293
|
|
NM_004076.5(CRYBB3):c.-57C>G
|
rs777375397
|
|
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser)
|
rs780319207
|
|
NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met)
|
rs1363417170
|
|
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
|
|
|
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=)
|
rs886057292
|
|
NM_004076.5(CRYBB3):c.194+1G>T
|
rs200444299
|
|
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)
|
rs183587921
|
|
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)
|
rs183587921
|
|
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
|
|
|
NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)
|
|
|
NM_004076.5(CRYBB3):c.471-5G>A
|
rs776776705
|
|
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=)
|
rs139487214
|
|
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu)
|
rs1935047601
|
|
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
|
|
|
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu)
|
rs587777601
|
|
NM_004076.5(CRYBB3):c.75+7G>C
|
|
|
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
|
|
|
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)
|
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
NM_004431.5(EPHA2):c.*224G>T
|
rs886045504
|
|
NM_004431.5(EPHA2):c.*543C>T
|
rs2024433310
|
|
NM_004431.5(EPHA2):c.-81G>T
|
rs748513356
|
|
NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)
|
|
|
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp)
|
rs1248366791
|
|
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)
|
|
|
NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)
|
|
|
NM_004431.5(EPHA2):c.1200C>T (p.Ser400=)
|
|
|
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala)
|
rs1181387702
|
|
NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser)
|
rs886045506
|
|
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe)
|
rs993473436
|
|
NM_004431.5(EPHA2):c.1405T>C (p.Tyr469His)
|
|
|
NM_004431.5(EPHA2):c.1428+16G>A
|
|
|
NM_004431.5(EPHA2):c.1428+18G>A
|
|
|
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
|
|
|
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
|
|
|
NM_004431.5(EPHA2):c.153+20G>A
|
|
|
NM_004431.5(EPHA2):c.154-5C>T
|
rs369642940
|
|
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
|
|
|
NM_004431.5(EPHA2):c.1582+1G>A
|
rs1570403798
|
|
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys)
|
rs1380993138
|
|
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
|
|
|
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=)
|
rs2024630377
|
|
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
|
|
|
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
|
|
|
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)
|
|
|
NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)
|
|
|
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
|
|
|
NM_004431.5(EPHA2):c.205G>A (p.Val69Met)
|
rs994302854
|
|
NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)
|
|
|
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=)
|
rs2124200644
|
|
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=)
|
rs757876769
|
|
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser)
|
rs922655349
|
|
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp)
|
rs55869078
|
|
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
|
|
|
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=)
|
rs143247718
|
|
NM_004431.5(EPHA2):c.2476-5G>A
|
rs374463695
|
|
NM_004431.5(EPHA2):c.252C>T (p.Asn84=)
|
|
|
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter)
|
rs143590250
|
|
NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)
|
|
|
NM_004431.5(EPHA2):c.2677_2680dup (p.Arg894fs)
|
|
|
NM_004431.5(EPHA2):c.267A>G (p.Gly89=)
|
|
|
NM_004431.5(EPHA2):c.2694G>A (p.Thr898=)
|
|
|
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys)
|
rs903033191
|
|
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro)
|
rs775490586
|
|
NM_004431.5(EPHA2):c.2815_2825+9del
|
rs2124192639
|
|
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)
|
rs137853200
|
|
NM_004431.5(EPHA2):c.2825+2del
|
|
|
NM_004431.5(EPHA2):c.2826-35_2890del
|
|
|
NM_004431.5(EPHA2):c.2826-9G>A
|
rs886041412
|
|
NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)
|
|
|
NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp)
|
rs137853199
|
|
NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)
|
|
|
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)
|
rs2024441691
|
|
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
|
|
|
NM_004431.5(EPHA2):c.438G>A (p.Ala146=)
|
|
|
NM_004431.5(EPHA2):c.508G>A (p.Val170Met)
|
|
|
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
|
|
|
NM_004431.5(EPHA2):c.714G>C (p.Pro238=)
|
rs36037949
|
|
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter)
|
rs1569602837
|
|
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val)
|
rs1557520529
|
|
NM_004431.5(EPHA2):c.824-7C>T
|
rs1301165838
|
|
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp)
|
rs759269511
|
|
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)
|
|
|
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)
|
rs104894175
|
|
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)
|
rs1411557416
|
|
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
|
|
|
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His)
|
rs147994059
|
|
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg)
|
rs2068927678
|
|
NM_005208.5(CRYBA1):c.215+1G>C
|
rs1264025914
|
|
NM_005208.5(CRYBA1):c.215+1G>T
|
rs1264025914
|
|
NM_005208.5(CRYBA1):c.215+5G>A
|
|
|
NM_005208.5(CRYBA1):c.258del (p.Phe86fs)
|
rs745555171
|
|
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)
|
rs1064797219
|
|
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=)
|
rs759439567
|
|
NM_005208.5(CRYBA1):c.31+7A>G
|
rs757547144
|
|
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
|
|
|
NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val)
|
|
|
NM_005208.5(CRYBA1):c.358-11C>G
|
|
|
NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys)
|
rs2068949378
|
|
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs)
|
rs2153009713
|
|
NM_005208.5(CRYBA1):c.500+1G>T
|
rs775038545
|
|
NM_005208.5(CRYBA1):c.501-2_522del
|
|
|
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del)
|
rs1555547008
|
|
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter)
|
rs773038726
|
|
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs)
|
rs786205628
|
|
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs)
|
rs1567671947
|
|
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp)
|
rs2153009764
|
|
NM_005210.4(CRYGB):c.10-38del
|
rs3214759
|
|
NM_005210.4(CRYGB):c.179G>A (p.Arg60His)
|
|
|
NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)
|
|
|
NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)
|
|
|
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu)
|
rs200143566
|
|
NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)
|
|
|
NM_005210.4(CRYGB):c.72del (p.Asn25fs)
|
rs387907342
|
|
NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)
|
|
|
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA
|
rs386654563
|
|
NM_005360.5(MAF):c.-30GGC[4]
|
rs5818251
|
|
NM_005360.5(MAF):c.-30GGC[7]
|
rs5818251
|
|
NM_005360.5(MAF):c.1119-12T>C
|
|
|
NM_005360.5(MAF):c.138C>T (p.Cys46=)
|
|
|
NM_005360.5(MAF):c.185C>T (p.Thr62Met)
|
rs727502771
|
|
NM_005360.5(MAF):c.260A>C (p.His87Pro)
|
|
|
NM_005360.5(MAF):c.264G>A (p.Leu88=)
|
|
|
NM_005360.5(MAF):c.293C>A (p.Pro98Gln)
|
rs878873480
|
|
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)
|
rs1555530022
|
|
NM_005360.5(MAF):c.308C>A (p.Pro103His)
|
|
|
NM_005360.5(MAF):c.435_440del (p.143GA[2])
|
rs753758729
|
|
NM_005360.5(MAF):c.456C>T (p.Gly152=)
|
rs1913849090
|
|
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
|
|
|
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
|
|
|
NM_005360.5(MAF):c.528C>G (p.Gly176=)
|
rs2143809805
|
|
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)
|
|
|
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
|
|
|
NM_005360.5(MAF):c.594C>T (p.Gly198=)
|
|
|
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
|
|
|
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
|
|
|
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
|
|
|
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
|
|
|
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)
|
|
|
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)
|
|
|
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)
|
rs887468453
|
|
NM_005360.5(MAF):c.696C>T (p.Gly232=)
|
rs868331592
|
|
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)
|
rs1229626204
|
|
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)
|
|
|
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)
|
|
|
NM_005360.5(MAF):c.726G>T (p.Ala242=)
|
|
|
NM_005360.5(MAF):c.768C>G (p.His256Gln)
|
rs1555529827
|
|
NM_005360.5(MAF):c.797T>G (p.Leu266Arg)
|
rs2143802492
|
|
NM_005360.5(MAF):c.810T>G (p.Ser270=)
|
rs2143802343
|
|
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
|
|
|
NM_005360.5(MAF):c.828G>A (p.Arg276=)
|
|
|
NM_005360.5(MAF):c.860T>G (p.Ile287Ser)
|
|
|
NM_005360.5(MAF):c.861C>T (p.Ile287=)
|
|
|
NM_005360.5(MAF):c.863G>C (p.Arg288Pro)
|
rs121917735
|
|
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
|
|
|
NM_005360.5(MAF):c.871C>G (p.Gln291Glu)
|
|
|
NM_005360.5(MAF):c.881G>A (p.Arg294Gln)
|
rs1597847611
|
|
NM_005360.5(MAF):c.890A>G (p.Lys297Arg)
|
rs121917736
|
|
NM_005360.5(MAF):c.892A>C (p.Asn298His)
|
|
|
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
|
|
|
NM_005360.5(MAF):c.895C>A (p.Arg299Ser)
|
rs786205221
|
|
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)
|
rs786205221
|
|
NM_005360.5(MAF):c.899G>A (p.Gly300Asp)
|
|
|
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
|
|
|
NM_005360.5(MAF):c.905C>A (p.Ala302Asp)
|
rs1481963503
|
|
NM_005360.5(MAF):c.905C>T (p.Ala302Val)
|
rs1481963503
|
|
NM_005360.5(MAF):c.908A>C (p.Gln303Pro)
|
rs786205222
|
|
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)
|
rs1913782042
|
|
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)
|
rs1913781557
|
|
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
|
|
|
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)
|
|
|
NM_005360.5(MAF):c.939A>G (p.Arg313=)
|
rs1231719173
|
|
NM_005360.5(MAF):c.941A>C (p.His314Pro)
|
rs1913779276
|
|
NM_006005.3(WFS1):c.1038G>A (p.Pro346=)
|
rs143886476
|
|
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn)
|
rs2109125284
|
|
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn)
|
rs775342800
|
|
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)
|
rs201282601
|
|
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala)
|
rs756869880
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1233T>G (p.Ser411=)
|
rs760897070
|
|
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243G>T (p.Val415Phe)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys)
|
rs147974629
|
|
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met)
|
rs139361521
|
|
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)
|
rs398123066
|
|
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln)
|
rs2109125928
|
|
NM_006005.3(WFS1):c.1476T>C (p.Pro492=)
|
rs1730893286
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser)
|
rs111773340
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met)
|
rs1801211
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)
|
rs372783392
|
|
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)
|
rs1057524887
|
|
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)
|
rs140773453
|
|
NM_006005.3(WFS1):c.1744G>A (p.Val582Met)
|
rs377677092
|
|
NM_006005.3(WFS1):c.1797C>A (p.Val599=)
|
rs71524361
|
|
NM_006005.3(WFS1):c.1806G>A (p.Ala602=)
|
rs142295878
|
|
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala)
|
rs780471127
|
|
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr)
|
rs863224266
|
|
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met)
|
rs376626985
|
|
NM_006005.3(WFS1):c.1930G>A (p.Val644Met)
|
rs141570700
|
|
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu)
|
rs150465110
|
|
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
|
rs1730930342
|
|
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser)
|
rs757027394
|
|
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu)
|
rs2109127017
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp)
|
rs1560421124
|
|
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys)
|
rs147465252
|
|
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val)
|
rs71526459
|
|
NM_006005.3(WFS1):c.2315G>A (p.Arg772His)
|
rs758646445
|
|
NM_006005.3(WFS1):c.2372G>A (p.Arg791His)
|
rs775659531
|
|
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp)
|
rs764842865
|
|
NM_006005.3(WFS1):c.2565A>T (p.Ser855=)
|
rs1046316
|
|
NM_006005.3(WFS1):c.2580C>A (p.His860Gln)
|
rs754802246
|
|
NM_006005.3(WFS1):c.2595C>A (p.His865Gln)
|
rs142469572
|
|
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr)
|
rs3821945
|
|
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)
|
rs56393026
|
|
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn)
|
rs759360634
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.316-14T>C
|
rs749922151
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006005.3(WFS1):c.510C>T (p.Thr170=)
|
rs151277039
|
|
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser)
|
rs776488772
|
|
NM_006005.3(WFS1):c.713-19G>A
|
rs776845938
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006005.3(WFS1):c.81C>T (p.Leu27=)
|
rs777168956
|
|
NM_006005.3(WFS1):c.862-18G>A
|
rs763167503
|
|
NM_006005.3(WFS1):c.876C>G (p.Pro292=)
|
rs1159812254
|
|
NM_006005.3(WFS1):c.889A>G (p.Met297Val)
|
rs1553878254
|
|
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile)
|
rs71537678
|
|
NM_012064.4(MIP):c.*1103C>T
|
rs886049689
|
|
NM_012064.4(MIP):c.*1262C>G
|
rs1868534260
|
|
NM_012064.4(MIP):c.*1373A>G
|
rs181959264
|
|
NM_012064.4(MIP):c.*342C>T
|
rs886049690
|
|
NM_012064.4(MIP):c.*957G>A
|
rs924408819
|
|
NM_012064.4(MIP):c.-26C>A
|
rs1172594016
|
|
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)
|
|
|
NM_012064.4(MIP):c.323C>T (p.Thr108Ile)
|
rs760722691
|
|
NM_012064.4(MIP):c.401A>G (p.Glu134Gly)
|
rs121917869
|
|
NM_012064.4(MIP):c.413C>G (p.Thr138Arg)
|
rs121917867
|
|
NM_012064.4(MIP):c.433A>C (p.Ile145Leu)
|
rs1868692984
|
|
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
|
|
|
NM_012064.4(MIP):c.493G>A (p.Gly165Ser)
|
rs886049692
|
|
NM_012064.4(MIP):c.493_494insT (p.Gly165fs)
|
|
|
NM_012064.4(MIP):c.506C>A (p.Ala169Asp)
|
rs1868688639
|
|
NM_012064.4(MIP):c.508dup (p.Leu170fs)
|
rs1057519616
|
|
NM_012064.4(MIP):c.525+1G>A
|
rs1868687508
|
|
NM_012064.4(MIP):c.559del (p.Arg187fs)
|
|
|
NM_012064.4(MIP):c.560G>T (p.Arg187Leu)
|
rs759746926
|
|
NM_012064.4(MIP):c.606+1G>C
|
rs1220143491
|
|
NM_012064.4(MIP):c.606+1G>T
|
|
|
NM_012064.4(MIP):c.616_632del (p.Val206fs)
|
|
|
NM_012064.4(MIP):c.623del (p.Pro208fs)
|
rs1555179713
|
|
NM_012064.4(MIP):c.638del (p.Gly213fs)
|
rs398122378
|
|
NM_012064.4(MIP):c.714G>A (p.Lys238=)
|
|
|
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)
|
rs864309693
|
|
NM_012064.4(MIP):c.98G>A (p.Arg33His)
|
rs139963297
|
|
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)
|
rs1057518737
|
|
NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg)
|
rs2124045186
|
|
NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser)
|
rs387906793
|
|
NM_015073.3(SIPA1L3):c.3492dup (p.Gly1165fs)
|
rs1568573490
|
|
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp)
|
rs1971857507
|
|
NM_015073.3(SIPA1L3):c.5203-29G>A
|
rs74573108
|
|
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp)
|
rs1261792226
|
|
NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His)
|
rs767672961
|
|
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
|
|
|
NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)
|
rs1184398243
|
|
NM_017541.4(CRYGS):c.124G>A (p.Val42Met)
|
rs1578956689
|
|
NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)
|
|
|
NM_017541.4(CRYGS):c.21+6T>C
|
|
|
NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp)
|
rs761628147
|
|
NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg)
|
rs1714002505
|
|
NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr)
|
rs1714002434
|
|
NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr)
|
rs1553846926
|
|
NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr)
|
rs1275239379
|
|
NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)
|
|
|
NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys)
|
rs143424000
|
|
NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)
|
|
|
NM_017541.4(CRYGS):c.436C>T (p.Arg146Cys)
|
|
|
NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)
|
|
|
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
|
|
|
NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)
|
|
|
NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)
|
rs104893736
|
|
NM_018238.4(AGK):c.*1006T>C
|
rs1387554008
|
|
NM_018238.4(AGK):c.*231C>T
|
rs1797606303
|
|
NM_018238.4(AGK):c.*364C>G
|
rs368718308
|
|
NM_018238.4(AGK):c.*365G>A
|
rs886062024
|
|
NM_018238.4(AGK):c.*754G>A
|
rs1797619409
|
|
NM_018238.4(AGK):c.*967T>C
|
rs886062026
|
|
NM_018238.4(AGK):c.101+13C>G
|
|
|
NM_018238.4(AGK):c.101+4_101+7dup
|
|
|
NM_018238.4(AGK):c.1035dup (p.Ile346fs)
|
rs1259937492
|
|
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del)
|
rs758017978
|
|
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
|
|
|
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
|
|
|
NM_018238.4(AGK):c.1046+11T>C
|
|
|
NM_018238.4(AGK):c.1046+13G>C
|
|
|
NM_018238.4(AGK):c.1046+7G>T
|
|
|
NM_018238.4(AGK):c.1047-12C>G
|
|
|
NM_018238.4(AGK):c.1047-2A>T
|
rs886041491
|
|
NM_018238.4(AGK):c.1047-7C>T
|
|
|
NM_018238.4(AGK):c.1047-8G>A
|
|
|
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
|
|
|
NM_018238.4(AGK):c.1068C>T (p.Pro356=)
|
|
|
NM_018238.4(AGK):c.1077C>T (p.His359=)
|
|
|
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
|
|
|
NM_018238.4(AGK):c.1079T>G (p.Val360Gly)
|
rs748320721
|
|
NM_018238.4(AGK):c.1089G>A (p.Thr363=)
|
|
|
NM_018238.4(AGK):c.1098C>T (p.Leu366=)
|
rs369042931
|
|
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
|
|
|
NM_018238.4(AGK):c.1131+19G>A
|
|
|
NM_018238.4(AGK):c.1132-10_1132-9del
|
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NM_018238.4(AGK):c.1132-13C>A
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NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
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NM_018238.4(AGK):c.1140G>A (p.Gly380=)
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NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)
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rs1554405928
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NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
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NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
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NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
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NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
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NM_018238.4(AGK):c.1176G>C (p.Ala392=)
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NM_018238.4(AGK):c.1236G>A (p.Lys412=)
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NM_018238.4(AGK):c.1260C>T (p.Pro420=)
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NM_018238.4(AGK):c.1263C>A (p.Thr421=)
|
rs1166298575
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NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
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NM_018238.4(AGK):c.141+16del
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NM_018238.4(AGK):c.142-10del
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NM_018238.4(AGK):c.142-14C>G
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NM_018238.4(AGK):c.142-18T>G
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NM_018238.4(AGK):c.142-4T>C
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NM_018238.4(AGK):c.142-8T>A
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NM_018238.4(AGK):c.145T>G (p.Phe49Val)
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NM_018238.4(AGK):c.173C>T (p.Ala58Val)
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NM_018238.4(AGK):c.174A>G (p.Ala58=)
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NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
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NM_018238.4(AGK):c.212C>T (p.Ala71Val)
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NM_018238.4(AGK):c.217A>G (p.Lys73Glu)
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rs1796233762
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NM_018238.4(AGK):c.221+13G>A
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NM_018238.4(AGK):c.222-20A>G
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NM_018238.4(AGK):c.222-3C>G
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NM_018238.4(AGK):c.237A>G (p.Leu79=)
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NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
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NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
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NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
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NM_018238.4(AGK):c.267T>C (p.His89=)
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NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
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NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
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NM_018238.4(AGK):c.289A>G (p.Ile97Val)
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NM_018238.4(AGK):c.298-18G>A
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NM_018238.4(AGK):c.298-18G>C
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NM_018238.4(AGK):c.298-18G>T
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NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
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NM_018238.4(AGK):c.331G>C (p.Glu111Gln)
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rs145805257
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NM_018238.4(AGK):c.343A>C (p.Asn115His)
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NM_018238.4(AGK):c.352G>A (p.Val118Met)
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NM_018238.4(AGK):c.355A>G (p.Ile119Val)
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rs180770509
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NM_018238.4(AGK):c.356dup (p.Ile120fs)
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NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
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NM_018238.4(AGK):c.391-13A>G
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rs752545115
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NM_018238.4(AGK):c.391-6T>C
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NM_018238.4(AGK):c.391-9C>G
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NM_018238.4(AGK):c.396T>C (p.Val132=)
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NM_018238.4(AGK):c.409del (p.Arg137fs)
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NM_018238.4(AGK):c.411A>T (p.Arg137=)
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NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
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NM_018238.4(AGK):c.423+19T>C
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NM_018238.4(AGK):c.424-14C>T
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NM_018238.4(AGK):c.424-3C>A
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NM_018238.4(AGK):c.424-3C>G
|
rs766413410
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NM_018238.4(AGK):c.424-3C>T
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NM_018238.4(AGK):c.424-3del
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NM_018238.4(AGK):c.424-3dup
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rs201762775
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NM_018238.4(AGK):c.424-4C>A
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rs113085050
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NM_018238.4(AGK):c.424-4C>G
|
rs113085050
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NM_018238.4(AGK):c.424-4C>T
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NM_018238.4(AGK):c.424-5C>A
|
rs113599212
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NM_018238.4(AGK):c.424-5C>G
|
rs113599212
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NM_018238.4(AGK):c.424-5C>T
|
rs113599212
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NM_018238.4(AGK):c.424-6C>G
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NM_018238.4(AGK):c.424-6C>T
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NM_018238.4(AGK):c.424-8C>G
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NM_018238.4(AGK):c.42A>G (p.Lys14=)
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NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
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NM_018238.4(AGK):c.462G>A (p.Leu154=)
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NM_018238.4(AGK):c.472A>G (p.Ser158Gly)
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rs888790526
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NM_018238.4(AGK):c.492C>G (p.Leu164=)
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rs1485021759
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NM_018238.4(AGK):c.495T>C (p.Phe165=)
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NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
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NM_018238.4(AGK):c.519-19A>G
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NM_018238.4(AGK):c.519-1G>A
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NM_018238.4(AGK):c.519-2A>G
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NM_018238.4(AGK):c.519-4_519-3del
|
rs770005760
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NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
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NM_018238.4(AGK):c.544A>C (p.Ile182Leu)
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rs200104400
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NM_018238.4(AGK):c.573T>C (p.Asp191=)
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NM_018238.4(AGK):c.579G>A (p.Leu193=)
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rs745967065
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NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
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NM_018238.4(AGK):c.615A>G (p.Ala205=)
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NM_018238.4(AGK):c.621C>G (p.Thr207=)
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NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
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NM_018238.4(AGK):c.632G>A (p.Trp211Ter)
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rs2116998520
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NM_018238.4(AGK):c.654C>A (p.Gly218=)
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NM_018238.4(AGK):c.654C>T (p.Gly218=)
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NM_018238.4(AGK):c.668+9T>C
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NM_018238.4(AGK):c.669-16C>A
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NM_018238.4(AGK):c.669-6del
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NM_018238.4(AGK):c.670T>C (p.Tyr224His)
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NM_018238.4(AGK):c.671A>G (p.Tyr224Cys)
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rs1057521780
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NM_018238.4(AGK):c.717C>T (p.Ser239=)
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NM_018238.4(AGK):c.726+18T>G
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NM_018238.4(AGK):c.726+9G>T
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NM_018238.4(AGK):c.763A>G (p.Thr255Ala)
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rs886062020
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NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
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NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
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NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
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NM_018238.4(AGK):c.805C>A (p.Pro269Thr)
|
rs773675584
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NM_018238.4(AGK):c.80A>C (p.His27Pro)
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NM_018238.4(AGK):c.80A>G (p.His27Arg)
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NM_018238.4(AGK):c.819T>C (p.Pro273=)
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NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
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NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
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NM_018238.4(AGK):c.877+13G>A
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NM_018238.4(AGK):c.877+19A>G
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NM_018238.4(AGK):c.878-15A>T
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NM_018238.4(AGK):c.878-17C>T
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NM_018238.4(AGK):c.878-6C>T
|
rs2117014175
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NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
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NM_018238.4(AGK):c.900G>A (p.Pro300=)
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NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
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NM_018238.4(AGK):c.924G>A (p.Leu308=)
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NM_018238.4(AGK):c.954G>A (p.Arg318=)
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NM_018238.4(AGK):c.963G>A (p.Gln321=)
|
rs746403177
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NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
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NM_018238.4(AGK):c.972G>A (p.Pro324=)
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NM_018238.4(AGK):c.975+16dup
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NM_018238.4(AGK):c.976-9C>T
|
rs746375297
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NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)
|
rs147591659
|
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NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs)
|
rs1695062782
|
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NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)
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|
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NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys)
|
rs137853924
|
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NM_020989.4(CRYGC):c.394del (p.Val132fs)
|
rs2105857937
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NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)
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|
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NM_020989.4(CRYGC):c.423del (p.Arg142fs)
|
rs1553585262
|
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NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)
|
rs398122392
|
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NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter)
|
rs398122944
|
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NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)
|
rs587778872
|
|
NM_021954.4(GJA3):c.*1239C>G
|
rs575890873
|
|
NM_021954.4(GJA3):c.*1495G>C
|
rs1324857690
|
|
NM_021954.4(GJA3):c.*1760G>A
|
rs183550581
|
|
NM_021954.4(GJA3):c.*1941C>G
|
rs960605395
|
|
NM_021954.4(GJA3):c.*1965C>T
|
rs1958798103
|
|
NM_021954.4(GJA3):c.*198T>C
|
rs886050018
|
|
NM_021954.4(GJA3):c.*201G>C
|
rs1025195589
|
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NM_021954.4(GJA3):c.*2086G>T
|
rs1958797398
|
|
NM_021954.4(GJA3):c.*2363A>G
|
rs1958795891
|
|
NM_021954.4(GJA3):c.*2829A>T
|
rs886050009
|
|
NM_021954.4(GJA3):c.*2923A>G
|
rs886050008
|
|
NM_021954.4(GJA3):c.*3099C>A
|
rs886050007
|
|
NM_021954.4(GJA3):c.*3182T>G
|
rs886050005
|
|
NM_021954.4(GJA3):c.*3389G>A
|
rs886050004
|
|
NM_021954.4(GJA3):c.*740G>C
|
rs141947045
|
|
NM_021954.4(GJA3):c.*744A>G
|
rs755473152
|
|
NM_021954.4(GJA3):c.*846G>A
|
rs886050015
|
|
NM_021954.4(GJA3):c.*846G>C
|
rs886050015
|
|
NM_021954.4(GJA3):c.1017G>A (p.Ala339=)
|
rs11617415
|
|
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
|
|
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NM_021954.4(GJA3):c.1065C>G (p.Val355=)
|
rs989998887
|
|
NM_021954.4(GJA3):c.1089G>A (p.Ala363=)
|
rs1958811917
|
|
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)
|
|
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NM_021954.4(GJA3):c.1137dup (p.Ser380fs)
|
rs1593332981
|
|
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn)
|
rs1958811054
|
|
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)
|
|
|
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg)
|
rs1593332899
|
|
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)
|
rs1047204525
|
|
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)
|
rs1958809965
|
|
NM_021954.4(GJA3):c.130G>A (p.Val44Met)
|
rs981126461
|
|
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
|
|
|
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr)
|
rs1566515377
|
|
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro)
|
rs2141138396
|
|
NM_021954.4(GJA3):c.151G>C (p.Asp51His)
|
rs2141138391
|
|
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)
|
rs864309691
|
|
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser)
|
rs2141138370
|
|
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)
|
rs2141138365
|
|
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)
|
rs121917823
|
|
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
|
|
|
NM_021954.4(GJA3):c.196T>C (p.Tyr66His)
|
|
|
NM_021954.4(GJA3):c.19C>G (p.Leu7Val)
|
rs1555339543
|
|
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu)
|
rs1958822283
|
|
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
|
|
|
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys)
|
rs1566515310
|
|
NM_021954.4(GJA3):c.227G>A (p.Arg76His)
|
rs121917827
|
|
NM_021954.4(GJA3):c.246C>G (p.Ile82Met)
|
rs781267768
|
|
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
|
|
|
NM_021954.4(GJA3):c.383A>T (p.Asp128Val)
|
rs1440873571
|
|
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)
|
rs398122937
|
|
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp)
|
rs755792418
|
|
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile)
|
rs1555339477
|
|
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
|
|
|
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg)
|
rs2141138491
|
|
NM_021954.4(GJA3):c.519C>T (p.Phe173=)
|
|
|
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
|
|
|
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)
|
rs2141138001
|
|
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)
|
rs121917825
|
|
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)
|
rs140332366
|
|
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)
|
rs140332366
|
|
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys)
|
rs2141137977
|
|
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)
|
rs397514703
|
|
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
|
|
|
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)
|
rs397514704
|
|
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
|
|
|
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
|
|
|
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
|
|
|
NM_021954.4(GJA3):c.720G>A (p.Pro240=)
|
rs746223535
|
|
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu)
|
rs771424292
|
|
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
|
|
|
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln)
|
rs1958816239
|
|
NM_021954.4(GJA3):c.78G>A (p.Leu26=)
|
rs1172500719
|
|
NM_021954.4(GJA3):c.7G>C (p.Asp3His)
|
rs864309694
|
|
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
|
|
|
NM_021954.4(GJA3):c.82G>A (p.Val28Met)
|
rs1555339539
|
|
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser)
|
rs886050022
|
|
NM_021954.4(GJA3):c.868del (p.Ala290fs)
|
|
|
NM_021954.4(GJA3):c.885G>C (p.Ala295=)
|
rs886050021
|
|
NM_021954.4(GJA3):c.902C>T (p.Ala301Val)
|
rs1460869929
|
|
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
|
|
|
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg)
|
rs377190812
|
|
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu)
|
rs374701362
|
|
NM_024513.4(FYCO1):c.*1074C>T
|
rs1703060519
|
|
NM_024513.4(FYCO1):c.*1149C>G
|
rs886058561
|
|
NM_024513.4(FYCO1):c.*1185A>T
|
rs538032998
|
|
NM_024513.4(FYCO1):c.*1235C>A
|
rs886058560
|
|
NM_024513.4(FYCO1):c.*1285G>C
|
rs780841652
|
|
NM_024513.4(FYCO1):c.*1349T>C
|
rs1703050607
|
|
NM_024513.4(FYCO1):c.*1415G>A
|
rs1488374
|
|
NM_024513.4(FYCO1):c.*1686A>G
|
rs527649068
|
|
NM_024513.4(FYCO1):c.*1748C>T
|
rs149016664
|
|
NM_024513.4(FYCO1):c.*2238C>A
|
rs144987706
|
|
NM_024513.4(FYCO1):c.*2275G>A
|
rs773693634
|
|
NM_024513.4(FYCO1):c.*2307C>G
|
rs886058555
|
|
NM_024513.4(FYCO1):c.*3178G>T
|
rs1047444
|
|
NM_024513.4(FYCO1):c.*3691A>C
|
rs1322082910
|
|
NM_024513.4(FYCO1):c.*431A>G
|
rs965506856
|
|
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)
|
rs387906963
|
|
NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val)
|
rs2125852762
|
|
NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser)
|
rs533418314
|
|
NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)
|
|
|
NM_024513.4(FYCO1):c.1464A>T (p.Ala488=)
|
rs886058569
|
|
NM_024513.4(FYCO1):c.150G>A (p.Glu50=)
|
rs886058572
|
|
NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)
|
|
|
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)
|
rs387906966
|
|
NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter)
|
rs200557771
|
|
NM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs)
|
rs766571780
|
|
NM_024513.4(FYCO1):c.1651G>T (p.Gly551Cys)
|
rs775726960
|
|
NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)
|
|
|
NM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys)
|
rs886058568
|
|
NM_024513.4(FYCO1):c.1826G>T (p.Ser609Ile)
|
rs768501163
|
|
NM_024513.4(FYCO1):c.2121C>T (p.Gly707=)
|
rs761520600
|
|
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His)
|
rs762153899
|
|
NM_024513.4(FYCO1):c.2200G>C (p.Glu734Gln)
|
rs750356269
|
|
NM_024513.4(FYCO1):c.2328G>A (p.Ala776=)
|
|
|
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
|
|
|
NM_024513.4(FYCO1):c.2455G>T (p.Val819Phe)
|
rs749304983
|
|
NM_024513.4(FYCO1):c.2505del (p.Ala836fs)
|
rs1575369255
|
|
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
|
|
|
NM_024513.4(FYCO1):c.2780C>T (p.Ala927Val)
|
rs1706029083
|
|
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val)
|
rs755356775
|
|
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
|
|
|
NM_024513.4(FYCO1):c.2932C>G (p.Leu978Val)
|
rs886058567
|
|
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)
|
rs71622515
|
|
NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn)
|
rs1374835987
|
|
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs)
|
rs2125846016
|
|
NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys)
|
rs886058571
|
|
NM_024513.4(FYCO1):c.3269+10A>T
|
rs1705867971
|
|
NM_024513.4(FYCO1):c.3270-6C>T
|
rs113516581
|
|
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
|
|
|
NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter)
|
rs73830668
|
|
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)
|
rs747093432
|
|
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
|
|
|
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)
|
|
|
NM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val)
|
rs1705732142
|
|
NM_024513.4(FYCO1):c.3438-9_3438-8del
|
rs536305273
|
|
NM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter)
|
|
|
NM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr)
|
rs1705562623
|
|
NM_024513.4(FYCO1):c.3645C>T (p.His1215=)
|
|
|
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu)
|
rs779617235
|
|
NM_024513.4(FYCO1):c.368A>C (p.Gln123Pro)
|
rs998386465
|
|
NM_024513.4(FYCO1):c.3799+12G>A
|
|
|
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)
|
rs1240503246
|
|
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs)
|
rs777269054
|
|
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe)
|
rs1705246252
|
|
NM_024513.4(FYCO1):c.3920C>A (p.Ser1307Tyr)
|
rs1489293292
|
|
NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)
|
|
|
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
|
|
|
NM_024513.4(FYCO1):c.3993C>T (p.Pro1331=)
|
rs752606656
|
|
NM_024513.4(FYCO1):c.3999G>T (p.Gly1333=)
|
rs751515767
|
|
NM_024513.4(FYCO1):c.4042A>G (p.Ile1348Val)
|
rs886058565
|
|
NM_024513.4(FYCO1):c.4078T>C (p.Phe1360Leu)
|
rs886058564
|
|
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)
|
rs387906965
|
|
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
|
|
|
NM_024513.4(FYCO1):c.417C>T (p.Ser139=)
|
|
|
NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)
|
|
|
NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe)
|
rs2125787935
|
|
NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)
|
|
|
NM_024513.4(FYCO1):c.4362-2A>G
|
|
|
NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)
|
|
|
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu)
|
rs1460800228
|
|
NM_024513.4(FYCO1):c.524G>A (p.Trp175Ter)
|
rs2125859216
|
|
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs)
|
rs2125859204
|
|
NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter)
|
rs200679450
|
|
NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)
|
|
|
NM_024513.4(FYCO1):c.708A>G (p.Arg236=)
|
rs1706249535
|
|
NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr)
|
rs1706240236
|
|
NM_024513.4(FYCO1):c.793dup (p.Ala265fs)
|
rs1706240480
|
|
NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly)
|
rs201358723
|
|
NM_024513.4(FYCO1):c.844C>T (p.Arg282Cys)
|
rs201358723
|
|
NM_024513.4(FYCO1):c.933T>C (p.Thr311=)
|
rs202166104
|
|
NM_024513.4(FYCO1):c.990G>A (p.Glu330=)
|
|
|
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter)
|
rs2127444957
|
|
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr)
|
rs1554139314
|
|
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)
|
|
|
NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)
|
|
|
NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)
|
|
|
NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)
|
|
|
NM_176812.5(CHMP4B):c.368+15G>A
|
rs199832068
|
|
NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val)
|
rs118203965
|
|
NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)
|
|
|
NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys)
|
rs118203966
|
|
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln)
|
rs118203966
|
|
NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)
|
rs878852983
|
|