ClinVar Miner

List of variants studied for cataract 34 multiple types

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1985
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HGVS dbSNP gnomAD frequency
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
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.217A>G (p.Lys73Glu) rs1796233762
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.355A>G (p.Ile119Val) rs180770509
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>G rs766413410
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)
NM_018238.4(AGK):c.519-19A>G
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.519-4_519-3del rs770005760
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) rs200104400
NM_018238.4(AGK):c.573T>C (p.Asp191=)
NM_018238.4(AGK):c.579G>A (p.Leu193=) rs745967065
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.621C>G (p.Thr207=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.632G>A (p.Trp211Ter) rs2116998520
NM_018238.4(AGK):c.654C>A (p.Gly218=)
NM_018238.4(AGK):c.654C>T (p.Gly218=)
NM_018238.4(AGK):c.668+9T>C
NM_018238.4(AGK):c.669-16C>A
NM_018238.4(AGK):c.669-6del
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.717C>T (p.Ser239=)
NM_018238.4(AGK):c.726+18T>G
NM_018238.4(AGK):c.726+9G>T
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.819T>C (p.Pro273=)
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.877+13G>A
NM_018238.4(AGK):c.877+19A>G
NM_018238.4(AGK):c.878-15A>T
NM_018238.4(AGK):c.878-17C>T
NM_018238.4(AGK):c.878-6C>T rs2117014175
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.900G>A (p.Pro300=)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.924G>A (p.Leu308=)
NM_018238.4(AGK):c.954G>A (p.Arg318=)
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_018238.4(AGK):c.972G>A (p.Pro324=)
NM_018238.4(AGK):c.975+16dup
NM_018238.4(AGK):c.976-9C>T rs746375297
NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys) rs147591659
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) rs1695062782
NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) rs137853924
NM_020989.4(CRYGC):c.394del (p.Val132fs) rs2105857937
NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)
NM_020989.4(CRYGC):c.423del (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) rs398122944
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
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)
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=)
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

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