NM_021954.4(GJA3):c.895C>A (p.Leu299Met)
|
rs968566
|
0.96584
|
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=)
|
rs5761637
|
0.88601
|
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln)
|
rs4683158
|
0.84476
|
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=)
|
rs1463680
|
0.78251
|
NM_000496.3(CRYBB2):c.449+9G>A
|
rs4049505
|
0.71163
|
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_000394.4(CRYAA):c.6C>T (p.Asp2=)
|
rs872331
|
0.60786
|
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)
|
rs9608378
|
0.58489
|
NM_001886.3(CRYBA4):c.159-20A>G
|
rs4276
|
0.57999
|
NM_003571.4(BFSP2):c.603= (p.Ala201=)
|
rs2276737
|
0.54090
|
NM_014290.3(TDRD7):c.33A>G (p.Leu11=)
|
rs1381532
|
0.53541
|
NM_014290.3(TDRD7):c.449T>C (p.Val150Ala)
|
rs2045732
|
0.53529
|
NM_005210.4(CRYGB):c.192T>C (p.Pro64=)
|
rs2854723
|
0.48090
|
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_004431.5(EPHA2):c.987C>T (p.Pro329=)
|
rs2230597
|
0.37785
|
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val)
|
rs3796375
|
0.35386
|
NM_024513.4(FYCO1):c.289-14T>A
|
rs751552
|
0.34838
|
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_001195.5(BFSP1):c.1926C>T (p.Thr642=)
|
rs6080717
|
0.26382
|
NM_004431.5(EPHA2):c.570G>A (p.Ala190=)
|
rs6678618
|
0.26138
|
NM_000496.3(CRYBB2):c.483G>A (p.Gly161=)
|
rs8140949
|
0.24115
|
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_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)
|
rs6080719
|
0.20403
|
NM_004431.5(EPHA2):c.1738+16C>T
|
rs6669624
|
0.19542
|
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.3587+15C>T
|
rs13069079
|
0.08025
|
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys)
|
rs13079478
|
0.07989
|
NM_014290.3(TDRD7):c.588A>G (p.Gln196=)
|
rs7853578
|
0.07327
|
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_001374675.1(HSF4):c.123+9C>T
|
rs115335849
|
0.04892
|
NM_005267.5(GJA8):c.804C>T (p.Leu268=)
|
rs3766503
|
0.04698
|
NM_014290.3(TDRD7):c.1923G>A (p.Lys641=)
|
rs41281938
|
0.04583
|
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_000394.4(CRYAA):c.444T>A (p.Thr148=)
|
rs61735857
|
0.03116
|
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=)
|
rs41289618
|
0.02650
|
NM_014290.3(TDRD7):c.563+14G>A
|
rs13290426
|
0.02374
|
NM_014290.3(TDRD7):c.207+18C>T
|
rs10817568
|
0.02115
|
NM_012064.4(MIP):c.319G>A (p.Val107Ile)
|
rs74641138
|
0.01986
|
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu)
|
rs142631461
|
0.01935
|
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=)
|
rs35586310
|
0.01913
|
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_004431.5(EPHA2):c.2352C>T (p.Thr784=)
|
rs112285834
|
0.01597
|
NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser)
|
rs16986560
|
0.01554
|
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu)
|
rs16999317
|
0.01485
|
NM_020989.4(CRYGC):c.357C>T (p.Ser119=)
|
rs61736036
|
0.01345
|
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_000394.4(CRYAA):c.327C>T (p.Tyr109=)
|
rs79100529
|
0.01190
|
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_000394.4(CRYAA):c.246G>A (p.Pro82=)
|
rs61735856
|
0.01115
|
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_020989.4(CRYGC):c.143G>A (p.Arg48His)
|
rs61751949
|
0.01047
|
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_014290.3(TDRD7):c.912G>A (p.Lys304=)
|
rs78579695
|
0.00950
|
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=)
|
rs34068905
|
0.00893
|
NM_014290.3(TDRD7):c.1869A>G (p.Ser623=)
|
rs115297535
|
0.00890
|
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)
|
rs4455261
|
0.00874
|
NM_000394.4(CRYAA):c.54C>T (p.Tyr18=)
|
rs61729442
|
0.00859
|
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_176812.5(CHMP4B):c.558C>T (p.Pro186=)
|
rs79766928
|
0.00784
|
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met)
|
rs61731097
|
0.00776
|
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=)
|
rs12552100
|
0.00769
|
NM_004431.5(EPHA2):c.648C>T (p.Ala216=)
|
rs34753465
|
0.00766
|
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)
|
rs76323117
|
0.00746
|
NM_004431.5(EPHA2):c.1864+12C>T
|
rs183236745
|
0.00718
|
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=)
|
rs35318346
|
0.00670
|
NM_014290.3(TDRD7):c.2489G>A (p.Arg830His)
|
rs78820996
|
0.00648
|
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_020989.4(CRYGC):c.123C>T (p.Gly41=)
|
rs115828074
|
0.00612
|
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_014290.3(TDRD7):c.207+19G>A
|
rs16920147
|
0.00568
|
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_024513.4(FYCO1):c.2718T>C (p.Ala906=)
|
rs114548859
|
0.00520
|
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_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_145649.5(GCNT2):c.926-34857G>A
|
rs56106312
|
0.00419
|
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=)
|
rs137986696
|
0.00410
|
NM_000394.4(CRYAA):c.324C>T (p.Gly108=)
|
rs113802426
|
0.00399
|
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.3212A>G (p.Gln1071Arg)
|
rs142618914
|
0.00387
|
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu)
|
rs6795530
|
0.00381
|
NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn)
|
rs149859061
|
0.00366
|
NM_005267.5(GJA8):c.741T>G (p.Ile247Met)
|
rs80358202
|
0.00365
|
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_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_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_001195.5(BFSP1):c.887C>T (p.Ala296Val)
|
rs142996076
|
0.00285
|
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_005267.5(GJA8):c.658A>G (p.Asn220Asp)
|
rs138140155
|
0.00247
|
NM_004431.5(EPHA2):c.1313-20C>T
|
rs146418694
|
0.00240
|
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu)
|
rs144800101
|
0.00236
|
NM_018238.4(AGK):c.518+18G>A
|
rs192082201
|
0.00235
|
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)
|
rs146914780
|
0.00234
|
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_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_001887.4(CRYBB1):c.399T>C (p.Ser133=)
|
rs34027527
|
0.00209
|
NM_001886.3(CRYBA4):c.324A>T (p.Thr108=)
|
rs143137736
|
0.00206
|
NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr)
|
rs117457580
|
0.00205
|
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_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_001887.4(CRYBB1):c.74G>A (p.Gly25Glu)
|
rs77431464
|
0.00169
|
NM_014290.3(TDRD7):c.2079+9G>A
|
rs375910025
|
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_005267.5(GJA8):c.893A>G (p.Asn298Ser)
|
rs142376567
|
0.00163
|
NM_018238.4(AGK):c.29A>G (p.Asn10Ser)
|
rs35269563
|
0.00161
|
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.489G>A (p.Leu163=)
|
rs146626026
|
0.00153
|
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=)
|
rs149080726
|
0.00152
|
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_004431.5(EPHA2):c.2239G>A (p.Val747Ile)
|
rs145592908
|
0.00139
|
NM_020989.4(CRYGC):c.10-10T>C
|
rs199901300
|
0.00136
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
NM_005208.5(CRYBA1):c.97-8C>T
|
rs376499974
|
0.00134
|
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_014290.3(TDRD7):c.231C>T (p.Cys77=)
|
rs143579801
|
0.00129
|
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_020989.4(CRYGC):c.271C>T (p.Arg91Trp)
|
rs140120148
|
0.00116
|
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_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_000496.3(CRYBB2):c.559G>A (p.Val187Met)
|
rs143080187
|
0.00094
|
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_014290.3(TDRD7):c.2488C>T (p.Arg830Cys)
|
rs140697341
|
0.00086
|
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=)
|
rs201532782
|
0.00083
|
NM_005267.5(GJA8):c.19C>A (p.Leu7Met)
|
rs150441169
|
0.00083
|
NM_003571.4(BFSP2):c.366G>A (p.Val122=)
|
rs139476224
|
0.00079
|
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.1248G>A (p.Lys416=)
|
rs149643762
|
0.00071
|
NM_005267.5(GJA8):c.385G>A (p.Val129Ile)
|
rs142415337
|
0.00070
|
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_005360.5(MAF):c.649G>A (p.Gly217Ser)
|
rs977933498
|
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_020989.4(CRYGC):c.256G>T (p.Val86Phe)
|
rs150910237
|
0.00066
|
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_001195.5(BFSP1):c.675G>A (p.Leu225=)
|
rs140834233
|
0.00064
|
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_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_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_005267.5(GJA8):c.994G>A (p.Glu332Lys)
|
rs143688085
|
0.00048
|
NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp)
|
rs144477083
|
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_018238.4(AGK):c.1088C>T (p.Thr363Met)
|
rs142069429
|
0.00043
|
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr)
|
rs139107757
|
0.00042
|
NM_018238.4(AGK):c.877+14C>T
|
rs41275003
|
0.00041
|
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala)
|
rs117543659
|
0.00041
|
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.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_005267.5(GJA8):c.439C>T (p.Leu147=)
|
rs145974798
|
0.00036
|
NM_024513.4(FYCO1):c.1425G>A (p.Glu475=)
|
rs144119495
|
0.00036
|
NM_014290.3(TDRD7):c.1341C>T (p.Thr447=)
|
rs143511562
|
0.00035
|
NM_014290.3(TDRD7):c.2079+7C>T
|
rs201253435
|
0.00035
|
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala)
|
rs142081868
|
0.00035
|
NM_001374675.1(HSF4):c.627-11C>T
|
rs199856104
|
0.00034
|
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)
|
rs149232677
|
0.00034
|
NM_020989.4(CRYGC):c.84G>A (p.Pro28=)
|
rs142890808
|
0.00034
|
NM_014290.3(TDRD7):c.444C>T (p.Asn148=)
|
rs144510531
|
0.00033
|
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)
|
rs185127002
|
0.00033
|
NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu)
|
rs147971015
|
0.00032
|
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu)
|
rs185816798
|
0.00031
|
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala)
|
rs770718484
|
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_001161748.2(LIM2):c.175+50G>A
|
rs147625714
|
0.00029
|
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala)
|
rs139706467
|
0.00029
|
NM_018238.4(AGK):c.877+15G>A
|
rs201052151
|
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_001195.5(BFSP1):c.812T>C (p.Ile271Thr)
|
rs147718368
|
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_000394.4(CRYAA):c.198C>T (p.Ser66=)
|
rs527765691
|
0.00024
|
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser)
|
rs140057151
|
0.00024
|
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val)
|
rs147977279
|
0.00023
|
NM_020989.4(CRYGC):c.120C>T (p.Ser40=)
|
rs184571576
|
0.00023
|
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val)
|
rs148445016
|
0.00023
|
NM_004431.5(EPHA2):c.2472C>T (p.His824=)
|
rs145425916
|
0.00022
|
NM_020989.4(CRYGC):c.10-14T>C
|
rs367944766
|
0.00022
|
NM_000394.4(CRYAA):c.189+14C>T
|
rs191516889
|
0.00021
|
NM_003380.5(VIM):c.911G>A (p.Arg304Gln)
|
rs552165238
|
0.00021
|
NM_018238.4(AGK):c.742C>T (p.His248Tyr)
|
rs78219214
|
0.00021
|
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys)
|
rs144172331
|
0.00020
|
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro)
|
rs142111893
|
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_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_001161748.2(LIM2):c.281G>A (p.Arg94His)
|
rs770425768
|
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_018238.4(AGK):c.727-9C>T
|
rs199977261
|
0.00017
|
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_005267.5(GJA8):c.1248G>T (p.Leu416=)
|
rs200369834
|
0.00016
|
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_004076.5(CRYBB3):c.263G>A (p.Arg88His)
|
rs138167578
|
0.00014
|
NM_014290.3(TDRD7):c.350-10A>G
|
rs201833921
|
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_012064.4(MIP):c.378C>T (p.Ser126=)
|
rs35033450
|
0.00013
|
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met)
|
rs141457141
|
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_145649.5(GCNT2):c.1155C>T (p.Arg385=)
|
rs370574556
|
0.00013
|
NM_014290.3(TDRD7):c.295C>T (p.Arg99Cys)
|
rs200783564
|
0.00012
|
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu)
|
rs377677067
|
0.00012
|
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_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_014290.3(TDRD7):c.1629+7A>G
|
rs151288166
|
0.00011
|
NM_020989.4(CRYGC):c.52G>A (p.Glu18Lys)
|
rs145041511
|
0.00011
|
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His)
|
rs146763276
|
0.00010
|
NM_003380.5(VIM):c.1360-17T>G
|
rs764183925
|
0.00010
|
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys)
|
rs201941686
|
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_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_001491.3(GCNT2):c.741G>A (p.Ala247=)
|
rs200874437
|
0.00009
|
NM_001491.3(GCNT2):c.816C>T (p.Ala272=)
|
rs773819612
|
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_012064.4(MIP):c.713A>C (p.Lys238Thr)
|
rs755752015
|
0.00009
|
NM_014290.3(TDRD7):c.391A>G (p.Asn131Asp)
|
rs200841827
|
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.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_000394.4(CRYAA):c.335G>A (p.Arg112His)
|
rs200594555
|
0.00008
|
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys)
|
rs369609046
|
0.00008
|
NM_000496.3(CRYBB2):c.231T>C (p.Gly77=)
|
rs761853361
|
0.00008
|
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp)
|
rs139154341
|
0.00008
|
NM_001195.5(BFSP1):c.735+9G>A
|
rs774559581
|
0.00008
|
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His)
|
rs138475231
|
0.00008
|
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_018238.4(AGK):c.519-5T>C
|
rs755469922
|
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_000394.4(CRYAA):c.202C>T (p.Arg68Trp)
|
rs376164744
|
0.00006
|
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser)
|
rs770592991
|
0.00006
|
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met)
|
rs769620041
|
0.00006
|
NM_001161748.2(LIM2):c.326-15G>A
|
rs752385175
|
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.153+15G>A
|
rs753000983
|
0.00006
|
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)
|
rs201325716
|
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_014290.3(TDRD7):c.2104T>A (p.Ser702Thr)
|
rs946019953
|
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_020989.4(CRYGC):c.55A>G (p.Thr19Ala)
|
rs546890057
|
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.2966C>T (p.Ala989Val)
|
rs142098311
|
0.00006
|
NM_176812.5(CHMP4B):c.191-5C>T
|
rs377095745
|
0.00006
|
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val)
|
rs374476265
|
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_020989.4(CRYGC):c.121G>A (p.Gly41Ser)
|
rs559463428
|
0.00005
|
NM_020989.4(CRYGC):c.253-7C>T
|
rs754304396
|
0.00005
|
NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys)
|
rs368393196
|
0.00005
|
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=)
|
rs759845569
|
0.00005
|
NM_001195.5(BFSP1):c.627+9T>G
|
rs776455142
|
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_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.717C>T (p.Leu239=)
|
rs779509832
|
0.00004
|
NM_003380.5(VIM):c.758A>G (p.His253Arg)
|
rs773762488
|
0.00004
|
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp)
|
rs200862865
|
0.00004
|
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)
|
rs201863246
|
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.442G>A (p.Asp148Asn)
|
rs754447639
|
0.00004
|
NM_004431.5(EPHA2):c.681C>T (p.Ala227=)
|
rs770700471
|
0.00004
|
NM_005208.5(CRYBA1):c.97-20G>A
|
rs201548192
|
0.00004
|
NM_005267.5(GJA8):c.353C>T (p.Ala118Val)
|
rs782306193
|
0.00004
|
NM_014290.3(TDRD7):c.1261C>A (p.His421Asn)
|
rs112811088
|
0.00004
|
NM_014290.3(TDRD7):c.2872G>A (p.Ala958Thr)
|
rs751158396
|
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.280G>A (p.Glu94Lys)
|
rs200572745
|
0.00004
|
NM_020989.4(CRYGC):c.33C>T (p.Ala11=)
|
rs533923837
|
0.00004
|
NM_020989.4(CRYGC):c.365G>A (p.Arg122His)
|
rs544008612
|
0.00004
|
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)
|
rs28931604
|
0.00004
|
NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg)
|
rs146010173
|
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_000394.4(CRYAA):c.160C>T (p.Arg54Cys)
|
rs397515623
|
0.00003
|
NM_001195.5(BFSP1):c.735+17C>T
|
rs368674829
|
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_003380.5(VIM):c.1009-8C>A
|
rs372984113
|
0.00003
|
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe)
|
rs758978165
|
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.390C>T (p.Tyr130=)
|
rs374988801
|
0.00003
|
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser)
|
rs773038726
|
0.00003
|
NM_005267.5(GJA8):c.477C>T (p.Thr159=)
|
rs782140553
|
0.00003
|
NM_005267.5(GJA8):c.487G>A (p.Val163Met)
|
rs374680617
|
0.00003
|
NM_005267.5(GJA8):c.933C>T (p.Asp311=)
|
rs587747861
|
0.00003
|
NM_005360.5(MAF):c.412C>A (p.Leu138Met)
|
rs771268967
|
0.00003
|
NM_017541.4(CRYGS):c.236G>A (p.Arg79His)
|
rs764969189
|
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_020989.4(CRYGC):c.258C>T (p.Val86=)
|
rs761447168
|
0.00003
|
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)
|
rs747097789
|
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_176812.5(CHMP4B):c.240G>A (p.Ala80=)
|
rs774485925
|
0.00003
|
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala)
|
rs765835212
|
0.00003
|
NM_000394.4(CRYAA):c.111G>A (p.Leu37=)
|
rs151213687
|
0.00002
|
NM_000394.4(CRYAA):c.75G>C (p.Gln25His)
|
rs754701447
|
0.00002
|
NM_000496.3(CRYBB2):c.279C>T (p.Ser93=)
|
rs371287851
|
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.741G>A (p.Glu247=)
|
rs373435397
|
0.00002
|
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser)
|
rs372922337
|
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.522C>T (p.Leu174=)
|
rs375822049
|
0.00002
|
NM_004076.5(CRYBB3):c.327+13C>T
|
rs1013210463
|
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.844A>G (p.Lys282Glu)
|
rs747087417
|
0.00002
|
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=)
|
rs755489260
|
0.00002
|
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=)
|
rs111320552
|
0.00002
|
NM_014290.3(TDRD7):c.1276A>G (p.Ile426Val)
|
rs766673237
|
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_024513.4(FYCO1):c.1677G>A (p.Pro559=)
|
rs928579946
|
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_000394.4(CRYAA):c.145C>T (p.Arg49Cys)
|
rs74315441
|
0.00001
|
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr)
|
rs1227057051
|
0.00001
|
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)
|
rs397515626
|
0.00001
|
NM_001161748.2(LIM2):c.175+87A>G
|
rs369343996
|
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_001374675.1(HSF4):c.1030C>T (p.Pro344Ser)
|
rs932918368
|
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.358G>A (p.Glu120Lys)
|
rs762762177
|
0.00001
|
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)
|
rs370514627
|
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.1058A>G (p.Lys353Arg)
|
rs746239628
|
0.00001
|
NM_003571.4(BFSP2):c.730-7T>C
|
rs75746794
|
0.00001
|
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)
|
rs1203386884
|
0.00001
|
NM_004076.5(CRYBB3):c.51T>C (p.His17=)
|
rs1449380333
|
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.1312+10del
|
rs751606166
|
0.00001
|
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=)
|
rs774658304
|
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.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.524G>A (p.Arg175His)
|
rs759687964
|
0.00001
|
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met)
|
rs754323552
|
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_005267.5(GJA8):c.1016A>T (p.Glu339Val)
|
rs781871271
|
0.00001
|
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn)
|
rs782429592
|
0.00001
|
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)
|
rs864309688
|
0.00001
|
NM_005267.5(GJA8):c.317G>A (p.Arg106His)
|
rs917690151
|
0.00001
|
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu)
|
rs1368547478
|
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_012064.4(MIP):c.119A>G (p.His40Arg)
|
rs1436119727
|
0.00001
|
NM_014290.3(TDRD7):c.2223T>C (p.Thr741=)
|
rs374967438
|
0.00001
|
NM_014290.3(TDRD7):c.2941A>G (p.Ile981Val)
|
rs763792246
|
0.00001
|
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=)
|
rs201216195
|
0.00001
|
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln)
|
rs758400042
|
0.00001
|
NM_014290.3(TDRD7):c.605A>G (p.His202Arg)
|
rs200603850
|
0.00001
|
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys)
|
rs1035614113
|
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.880C>A (p.Leu294Ile)
|
rs139547145
|
0.00001
|
NM_018238.4(AGK):c.881T>C (p.Leu294Pro)
|
rs863223893
|
0.00001
|
NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr)
|
rs1351742978
|
0.00001
|
NM_020989.4(CRYGC):c.304A>G (p.Met102Val)
|
rs756540358
|
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.108G>A (p.Thr36=)
|
rs558777911
|
0.00001
|
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr)
|
rs752338309
|
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.241G>A (p.Val81Met)
|
rs1167055520
|
0.00001
|
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=)
|
rs1575368474
|
0.00001
|
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp)
|
rs1346321563
|
0.00001
|
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His)
|
rs775657304
|
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
|
NC_000001.10:g.(?_146714354)_(147381384_?)del
|
|
|
NC_000001.10:g.(?_146714354)_(147381384_?)dup
|
|
|
NC_000001.10:g.(?_147380063)_(147381404_?)del
|
|
|
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_000021.8:g.(?_43160998)_(47865240_?)dup
|
|
|
NC_000022.10:g.(?_25601167)_(25601349_?)dup
|
|
|
NC_000022.10:g.(?_26142492)_(27026451_?)del
|
|
|
NC_000022.10:g.(?_26995454)_(26995657_?)del
|
|
|
NM_000394.4(CRYAA):c.159C>T (p.Phe53=)
|
|
|
NM_000394.4(CRYAA):c.189+15G>A
|
rs377222721
|
|
NM_000394.4(CRYAA):c.190-24_190-10del
|
|
|
NM_000394.4(CRYAA):c.199G>C (p.Asp67His)
|
rs747872625
|
|
NM_000394.4(CRYAA):c.213C>T (p.Phe71=)
|
|
|
NM_000394.4(CRYAA):c.225C>T (p.Leu75=)
|
|
|
NM_000394.4(CRYAA):c.249G>A (p.Glu83=)
|
|
|
NM_000394.4(CRYAA):c.291C>T (p.His97=)
|
|
|
NM_000394.4(CRYAA):c.303C>T (p.Asn101=)
|
|
|
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup)
|
rs2146498671
|
|
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)
|
rs74315439
|
|
NM_000394.4(CRYAA):c.347G>A (p.Arg116His)
|
rs121912973
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000394.4(CRYAA):c.35G>A (p.Arg12His)
|
rs776884812
|
|
NM_000394.4(CRYAA):c.440del (p.Gln147fs)
|
rs1114167311
|
|
NM_000394.4(CRYAA):c.486G>A (p.Ser162=)
|
rs376490511
|
|
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
|
|
|
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
|
|
|
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)
|
|
|
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)
|
rs397515625
|
|
NM_000496.3(CRYBB2):c.135C>T (p.Gly45=)
|
|
|
NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly)
|
rs1555888762
|
|
NM_000496.3(CRYBB2):c.173+1G>T
|
rs770540384
|
|
NM_000496.3(CRYBB2):c.174-12T>A
|
|
|
NM_000496.3(CRYBB2):c.273G>A (p.Thr91=)
|
|
|
NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)
|
|
|
NM_000496.3(CRYBB2):c.307-12C>T
|
|
|
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)
|
rs864309698
|
|
NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu)
|
rs1395903116
|
|
NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)
|
|
|
NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu)
|
rs2146093751
|
|
NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)
|
|
|
NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val)
|
rs1935496594
|
|
NM_000496.3(CRYBB2):c.449+18C>T
|
|
|
NM_000496.3(CRYBB2):c.449+6T>A
|
|
|
NM_000496.3(CRYBB2):c.450-16A>C
|
|
|
NM_000496.3(CRYBB2):c.450-19A>C
|
|
|
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)
|
rs74315489
|
|
NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)
|
|
|
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg)
|
rs1569022638
|
|
NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly)
|
rs1555889308
|
|
NM_000496.3(CRYBB2):c.563G>A (p.Arg188His)
|
rs886041410
|
|
NM_000496.3(CRYBB2):c.573C>T (p.Arg191=)
|
|
|
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val)
|
rs1935386462
|
|
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.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.461-15C>A
|
|
|
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
|
|
|
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
|
|
|
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.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.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.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_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>G (p.Pro492Arg)
|
|
|
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
|
|
|
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.322C>A (p.Arg108Ser)
|
|
|
NM_001374675.1(HSF4):c.330C>G (p.Arg110=)
|
rs754881447
|
|
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
|
|
|
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.360G>A (p.Lys120=)
|
|
|
NM_001374675.1(HSF4):c.361-17G>A
|
|
|
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.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.89del (p.Asp30fs)
|
rs1555549755
|
|
NM_001374675.1(HSF4):c.965dup (p.Pro323fs)
|
rs776129797
|
|
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_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.198_200del (p.Gln66_Tyr67delinsHis)
|
rs1929675709
|
|
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.27G>A (p.Ala9=)
|
|
|
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.155C>A (p.Ala52Glu)
|
rs533765538
|
|
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=)
|
rs1569206910
|
|
NM_001887.4(CRYBB1):c.299+16C>A
|
rs57400078
|
|
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
|
|
|
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
|
|
|
NM_001887.4(CRYBB1):c.432+5G>C
|
rs1555940959
|
|
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
|
|
|
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs)
|
rs1569203234
|
|
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
|
|
|
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_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.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.563+15A>C
|
|
|
NM_003380.5(VIM):c.598G>C (p.Glu200Gln)
|
rs1037734535
|
|
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.1100T>G (p.Val367Gly)
|
rs144693104
|
|
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
|
|
|
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.344TGG[1] (p.Val116del)
|
rs2107871422
|
|
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
|
|
|
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp)
|
rs375380005
|
|
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)
|
rs121908938
|
|
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_004076.5(CRYBB3):c.157C>A (p.Leu53Met)
|
rs1363417170
|
|
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
|
|
|
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.75+7G>C
|
|
|
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
|
|
|
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)
|
|
|
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.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.1577C>T (p.Thr526Met)
|
|
|
NM_004431.5(EPHA2):c.1582+1G>A
|
rs1570403798
|
|
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
|
|
|
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
|
|
|
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
|
|
|
NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)
|
|
|
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
|
|
|
NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)
|
|
|
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=)
|
rs2124200644
|
|
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.252C>T (p.Asn84=)
|
|
|
NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)
|
|
|
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.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.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.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.824-7C>T
|
rs1301165838
|
|
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp)
|
rs759269511
|
|
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)
|
|
|
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.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.490_491del (p.Gln164fs)
|
rs2153009713
|
|
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_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.83C>G (p.Pro28Arg)
|
|
|
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA
|
rs386654563
|
|
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
|
|
|
NM_005267.5(GJA8):c.1125dup (p.Gly376fs)
|
|
|
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg)
|
rs782314953
|
|
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)
|
|
|
NM_005267.5(GJA8):c.117G>A (p.Thr39=)
|
|
|
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
|
|
|
NM_005267.5(GJA8):c.1272C>T (p.Ser424=)
|
rs2149016663
|
|
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu)
|
rs782206624
|
|
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
|
|
|
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
|
|
|
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)
|
rs864309688
|
|
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys)
|
rs983216627
|
|
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg)
|
rs1553242554
|
|
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
|
|
|
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly)
|
rs2149015418
|
|
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)
|
|
|
NM_005267.5(GJA8):c.150C>T (p.Ser50=)
|
|
|
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)
|
rs864309703
|
|
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu)
|
rs1307969607
|
|
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu)
|
rs1651879427
|
|
NM_005267.5(GJA8):c.180C>T (p.Gly60=)
|
|
|
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys)
|
rs2149015470
|
|
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
|
|
|
NM_005267.5(GJA8):c.196T>C (p.Tyr66His)
|
rs1571175950
|
|
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser)
|
rs1651881222
|
|
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys)
|
rs1651881222
|
|
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly)
|
rs2149015482
|
|
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu)
|
rs781782991
|
|
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
|
|
|
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys)
|
rs1553242577
|
|
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
|
|
|
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg)
|
rs2149015529
|
|
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
|
|
|
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala)
|
rs80358200
|
|
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)
|
rs80358200
|
|
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg)
|
|
|
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)
|
rs782199122
|
|
NM_005267.5(GJA8):c.264G>C (p.Pro88=)
|
rs1227166611
|
|
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
|
|
|
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
|
|
|
NM_005267.5(GJA8):c.270G>C (p.Leu90=)
|
rs1651886484
|
|
NM_005267.5(GJA8):c.426G>A (p.Arg142=)
|
|
|
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg)
|
rs2149015799
|
|
NM_005267.5(GJA8):c.481T>G (p.Phe161Val)
|
rs1558009685
|
|
NM_005267.5(GJA8):c.499G>T (p.Val167Leu)
|
rs1426006227
|
|
NM_005267.5(GJA8):c.528G>T (p.Arg176=)
|
|
|
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
|
|
|
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)
|
rs80358205
|
|
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser)
|
rs1651918704
|
|
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly)
|
rs1651919374
|
|
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser)
|
|
|
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)
|
|
|
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly)
|
rs2149016020
|
|
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly)
|
rs1558009094
|
|
NM_005267.5(GJA8):c.756C>T (p.Leu252=)
|
|
|
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu)
|
rs1571177590
|
|
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)
|
|
|
NM_005267.5(GJA8):c.978G>A (p.Val326=)
|
|
|
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp)
|
rs587710840
|
|
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.861C>T (p.Ile287=)
|
|
|
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
|
|
|
NM_005360.5(MAF):c.881G>A (p.Arg294Gln)
|
rs1597847611
|
|
NM_005360.5(MAF):c.892A>C (p.Asn298His)
|
|
|
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
|
|
|
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)
|
rs786205221
|
|
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.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_012064.4(MIP):c.172T>G (p.Ser58Ala)
|
|
|
NM_012064.4(MIP):c.323C>T (p.Thr108Ile)
|
rs760722691
|
|
NM_012064.4(MIP):c.433A>C (p.Ile145Leu)
|
rs1868692984
|
|
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
|
|
|
NM_012064.4(MIP):c.525+1G>A
|
rs1868687508
|
|
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.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_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)
|
|
|
NM_014290.3(TDRD7):c.1572C>T (p.Ala524=)
|
|
|
NM_014290.3(TDRD7):c.1760A>G (p.Asp587Gly)
|
rs1828932238
|
|
NM_014290.3(TDRD7):c.1857G>A (p.Leu619=)
|
|
|
NM_014290.3(TDRD7):c.2025T>A (p.Gly675=)
|
rs1828958858
|
|
NM_014290.3(TDRD7):c.2147G>A (p.Gly716Glu)
|
|
|
NM_014290.3(TDRD7):c.2338A>G (p.Ile780Val)
|
|
|
NM_014290.3(TDRD7):c.2344A>C (p.Met782Leu)
|
rs752597965
|
|
NM_014290.3(TDRD7):c.2344A>G (p.Met782Val)
|
|
|
NM_014290.3(TDRD7):c.2412+8A>G
|
|
|
NM_014290.3(TDRD7):c.2494A>G (p.Ile832Val)
|
|
|
NM_014290.3(TDRD7):c.2603C>T (p.Pro868Leu)
|
rs764446051
|
|
NM_014290.3(TDRD7):c.2641C>G (p.Leu881Val)
|
|
|
NM_014290.3(TDRD7):c.2683G>A (p.Ala895Thr)
|
|
|
NM_014290.3(TDRD7):c.2684C>A (p.Ala895Asp)
|
|
|
NM_014290.3(TDRD7):c.2841A>G (p.Leu947=)
|
|
|
NM_014290.3(TDRD7):c.2915+11G>A
|
|
|
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val)
|
rs202206922
|
|
NM_014290.3(TDRD7):c.3010A>G (p.Lys1004Glu)
|
|
|
NM_014290.3(TDRD7):c.624T>C (p.Thr208=)
|
|
|
NM_014290.3(TDRD7):c.692C>G (p.Thr231Ser)
|
rs756033246
|
|
NM_014290.3(TDRD7):c.825A>G (p.Gln275=)
|
|
|
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
|
|
|
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.450C>A (p.Tyr150Ter)
|
|
|
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
|
|
|
NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)
|
|
|
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.1127C>T (p.Pro376Leu)
|
|
|
NM_018238.4(AGK):c.1131+19G>A
|
|
|
NM_018238.4(AGK):c.1132-10_1132-9del
|
|
|
NM_018238.4(AGK):c.1132-13C>A
|
|
|
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
|
|
|
NM_018238.4(AGK):c.1140G>A (p.Gly380=)
|
|
|
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)
|
rs1554405928
|
|
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
|
|
|
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
|
|
|
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
|
|
|
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
|
|
|
NM_018238.4(AGK):c.1176G>C (p.Ala392=)
|
|
|
NM_018238.4(AGK):c.1236G>A (p.Lys412=)
|
|
|
NM_018238.4(AGK):c.1260C>T (p.Pro420=)
|
|
|
NM_018238.4(AGK):c.1263C>A (p.Thr421=)
|
rs1166298575
|
|
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
|
|
|
NM_018238.4(AGK):c.141+16del
|
|
|
NM_018238.4(AGK):c.142-10del
|
|
|
NM_018238.4(AGK):c.142-14C>G
|
|
|
NM_018238.4(AGK):c.142-18T>G
|
|
|
NM_018238.4(AGK):c.142-4T>C
|
|
|
NM_018238.4(AGK):c.142-8T>A
|
|
|
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
|
|
|
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
|
|
|
NM_018238.4(AGK):c.174A>G (p.Ala58=)
|
|
|
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
|
|
|
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
|
|
|
NM_018238.4(AGK):c.221+13G>A
|
|
|
NM_018238.4(AGK):c.222-20A>G
|
|
|
NM_018238.4(AGK):c.222-3C>G
|
|
|
NM_018238.4(AGK):c.237A>G (p.Leu79=)
|
|
|
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
|
|
|
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
|
|
|
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
|
|
|
NM_018238.4(AGK):c.267T>C (p.His89=)
|
|
|
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
|
|
|
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
|
|
|
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
|
|
|
NM_018238.4(AGK):c.298-18G>A
|
|
|
NM_018238.4(AGK):c.298-18G>C
|
|
|
NM_018238.4(AGK):c.298-18G>T
|
|
|
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
|
|
|
NM_018238.4(AGK):c.331G>C (p.Glu111Gln)
|
rs145805257
|
|
NM_018238.4(AGK):c.343A>C (p.Asn115His)
|
|
|
NM_018238.4(AGK):c.352G>A (p.Val118Met)
|
|
|
NM_018238.4(AGK):c.356dup (p.Ile120fs)
|
|
|
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
|
|
|
NM_018238.4(AGK):c.391-13A>G
|
rs752545115
|
|
NM_018238.4(AGK):c.391-6T>C
|
|
|
NM_018238.4(AGK):c.391-9C>G
|
|
|
NM_018238.4(AGK):c.396T>C (p.Val132=)
|
|
|
NM_018238.4(AGK):c.409del (p.Arg137fs)
|
|
|
NM_018238.4(AGK):c.411A>T (p.Arg137=)
|
|
|
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
|
|
|
NM_018238.4(AGK):c.423+19T>C
|
|
|
NM_018238.4(AGK):c.424-14C>T
|
|
|
NM_018238.4(AGK):c.424-3C>A
|
|
|
NM_018238.4(AGK):c.424-3C>T
|
|
|
NM_018238.4(AGK):c.424-3del
|
|
|
NM_018238.4(AGK):c.424-3dup
|
rs201762775
|
|
NM_018238.4(AGK):c.424-4C>A
|
rs113085050
|
|
NM_018238.4(AGK):c.424-4C>G
|
rs113085050
|
|
NM_018238.4(AGK):c.424-4C>T
|
|
|
NM_018238.4(AGK):c.424-5C>A
|
rs113599212
|
|
NM_018238.4(AGK):c.424-5C>G
|
rs113599212
|
|
NM_018238.4(AGK):c.424-5C>T
|
rs113599212
|
|
NM_018238.4(AGK):c.424-6C>G
|
|
|
NM_018238.4(AGK):c.424-6C>T
|
|
|
NM_018238.4(AGK):c.424-8C>G
|
|
|
NM_018238.4(AGK):c.42A>G (p.Lys14=)
|
|
|
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
|
|
|
NM_018238.4(AGK):c.462G>A (p.Leu154=)
|
|
|
NM_018238.4(AGK):c.472A>G (p.Ser158Gly)
|
rs888790526
|
|
NM_018238.4(AGK):c.492C>G (p.Leu164=)
|
rs1485021759
|
|
NM_018238.4(AGK):c.495T>C (p.Phe165=)
|
|
|
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)
|
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=)
|
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)
|
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)
|
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.776A>G (p.Glu259Gly)
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|
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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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|
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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
|
|
NM_020989.4(CRYGC):c.135C>G (p.Leu45=)
|
rs1437464751
|
|
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)
|
rs104893618
|
|
NM_020989.4(CRYGC):c.142C>T (p.Arg48Cys)
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|
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NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro)
|
rs1553585708
|
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NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)
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|
|
NM_020989.4(CRYGC):c.212G>T (p.Gly71Val)
|
rs1574551119
|
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NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)
|
|
|
NM_020989.4(CRYGC):c.230G>A (p.Arg77His)
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|
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NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter)
|
rs200505176
|
|
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)
|
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NM_020989.4(CRYGC):c.413A>G (p.Asn138Ser)
|
|
|
NM_020989.4(CRYGC):c.418dup (p.Arg140fs)
|
rs2105857887
|
|
NM_020989.4(CRYGC):c.423dup (p.Arg142fs)
|
rs1553585262
|
|
NM_020989.4(CRYGC):c.44G>A (p.Arg15His)
|
|
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NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)
|
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NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
|
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NM_020989.4(CRYGC):c.61_63del (p.Thr21del)
|
|
|
NM_021954.4(GJA3):c.1017G>A (p.Ala339=)
|
rs11617415
|
|
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
|
|
|
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)
|
|
|
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)
|
|
|
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg)
|
rs1593332899
|
|
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.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.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>G (p.Phe70Leu)
|
|
|
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys)
|
rs1566515310
|
|
NM_021954.4(GJA3):c.246C>G (p.Ile82Met)
|
rs781267768
|
|
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
|
|
|
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.595G>A (p.Glu199Lys)
|
rs2141137977
|
|
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
|
|
|
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.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.7G>T (p.Asp3Tyr)
|
|
|
NM_021954.4(GJA3):c.82G>A (p.Val28Met)
|
rs1555339539
|
|
NM_021954.4(GJA3):c.868del (p.Ala290fs)
|
|
|
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
|
|
|
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.1535C>G (p.Thr512Ser)
|
|
|
NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)
|
|
|
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His)
|
rs762153899
|
|
NM_024513.4(FYCO1):c.2328G>A (p.Ala776=)
|
|
|
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
|
|
|
NM_024513.4(FYCO1):c.2505del (p.Ala836fs)
|
rs1575369255
|
|
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val)
|
rs755356775
|
|
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
|
|
|
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs)
|
rs2125846016
|
|
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.3367A>G (p.Met1123Val)
|
|
|
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)
|
|
|
NM_024513.4(FYCO1):c.3438-9_3438-8del
|
rs536305273
|
|
NM_024513.4(FYCO1):c.3645C>T (p.His1215=)
|
|
|
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu)
|
rs779617235
|
|
NM_024513.4(FYCO1):c.3799+12G>A
|
|
|
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs)
|
rs777269054
|
|
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe)
|
rs1705246252
|
|
NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)
|
|
|
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
|
|
|
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.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.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.450G>A (p.Ser150=)
|
|
|
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln)
|
rs118203966
|
|