ClinVar Miner

List of variants studied for cataract by Invitae

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1289
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) rs968566 0.96584
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=) rs5761637 0.88601
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158 0.84476
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680 0.78251
NM_000496.3(CRYBB2):c.449+9G>A rs4049505 0.71163
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu) rs796287 0.69716
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_000394.4(CRYAA):c.6C>T (p.Asp2=) rs872331 0.60786
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_001886.3(CRYBA4):c.159-20A>G rs4276 0.57999
NM_003571.4(BFSP2):c.603= (p.Ala201=) rs2276737 0.54090
NM_014290.3(TDRD7):c.33A>G (p.Leu11=) rs1381532 0.53541
NM_014290.3(TDRD7):c.449T>C (p.Val150Ala) rs2045732 0.53529
NM_005210.4(CRYGB):c.192T>C (p.Pro64=) rs2854723 0.48090
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_003571.4(BFSP2):c.603G>A (p.Ala201=) rs2276737 0.45910
NM_004431.5(EPHA2):c.987C>T (p.Pro329=) rs2230597 0.37785
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375 0.35386
NM_024513.4(FYCO1):c.289-14T>A rs751552 0.34838
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=) rs6136118 0.27904
NM_004431.5(EPHA2):c.573G>A (p.Leu191=) rs6678616 0.27639
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=) rs6080717 0.26382
NM_004431.5(EPHA2):c.570G>A (p.Ala190=) rs6678618 0.26138
NM_000496.3(CRYBB2):c.483G>A (p.Gly161=) rs8140949 0.24115
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=) rs3754334 0.23636
NM_005208.5(CRYBA1):c.456C>T (p.Gly152=) rs1047790 0.22069
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser) rs6080719 0.20403
NM_004431.5(EPHA2):c.1738+16C>T rs6669624 0.19542
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=) rs10907223 0.15604
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376 0.15512
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) rs2230906 0.10090
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726 0.09577
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) rs33910087 0.08920
NM_024513.4(FYCO1):c.819A>G (p.Gln273=) rs13071283 0.08538
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) rs13059238 0.08514
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) rs13079869 0.08069
NM_024513.4(FYCO1):c.3587+15C>T rs13069079 0.08025
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) rs13079478 0.07989
NM_014290.3(TDRD7):c.588A>G (p.Gln196=) rs7853578 0.07327
NM_001886.3(CRYBA4):c.300+3A>G rs56117601 0.06378
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630 0.05424
NM_001195.5(BFSP1):c.804C>T (p.Asn268=) rs11537702 0.05390
NM_003380.5(VIM):c.813C>T (p.Asp271=) rs4903 0.05252
NM_001374675.1(HSF4):c.123+9C>T rs115335849 0.04892
NM_005267.5(GJA8):c.804C>T (p.Leu268=) rs3766503 0.04698
NM_014290.3(TDRD7):c.1923G>A (p.Lys641=) rs41281938 0.04583
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_005208.5(CRYBA1):c.215+16C>T rs72819448 0.04171
NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp) rs79087781 0.04138
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=) rs2230598 0.03581
NM_021954.4(GJA3):c.543C>T (p.Cys181=) rs74607195 0.03391
NM_001886.3(CRYBA4):c.444-18G>A rs75205052 0.03174
NM_000394.4(CRYAA):c.444T>A (p.Thr148=) rs61735857 0.03116
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618 0.02650
NM_014290.3(TDRD7):c.563+14G>A rs13290426 0.02374
NM_014290.3(TDRD7):c.207+18C>T rs10817568 0.02115
NM_012064.4(MIP):c.319G>A (p.Val107Ile) rs74641138 0.01986
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu) rs142631461 0.01935
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=) rs35586310 0.01913
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr) rs34021505 0.01910
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356 0.01862
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His) rs35903225 0.01759
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492 0.01745
NM_001886.3(CRYBA4):c.106G>A (p.Val36Met) rs35520672 0.01724
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) rs35537333 0.01705
NM_004431.5(EPHA2):c.824-11G>A rs2291804 0.01705
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549 0.01659
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=) rs112285834 0.01597
NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser) rs16986560 0.01554
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu) rs16999317 0.01485
NM_020989.4(CRYGC):c.357C>T (p.Ser119=) rs61736036 0.01345
NM_001161748.2(LIM2):c.231C>T (p.Ser77=) rs8111243 0.01252
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_000394.4(CRYAA):c.327C>T (p.Tyr109=) rs79100529 0.01190
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=) rs56043737 0.01185
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_003380.5(VIM):c.879C>G (p.Ser293=) rs11254467 0.01153
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp) rs139124891 0.01147
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01145
NM_000394.4(CRYAA):c.246G>A (p.Pro82=) rs61735856 0.01115
NM_003571.4(BFSP2):c.369C>T (p.His123=) rs34163197 0.01054
NM_003571.4(BFSP2):c.162C>T (p.Pro54=) rs112142146 0.01053
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln) rs200899362 0.01003
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala) rs143850362 0.00985
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_014290.3(TDRD7):c.912G>A (p.Lys304=) rs78579695 0.00950
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905 0.00893
NM_014290.3(TDRD7):c.1869A>G (p.Ser623=) rs115297535 0.00890
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_000394.4(CRYAA):c.54C>T (p.Tyr18=) rs61729442 0.00859
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) rs34266136 0.00838
NM_003571.4(BFSP2):c.892-17G>C rs17366213 0.00831
NM_001161748.2(LIM2):c.175+11C>T rs73933350 0.00824
NM_176812.5(CHMP4B):c.558C>T (p.Pro186=) rs79766928 0.00784
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met) rs61731097 0.00776
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=) rs12552100 0.00769
NM_004431.5(EPHA2):c.648C>T (p.Ala216=) rs34753465 0.00766
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp) rs76323117 0.00746
NM_004431.5(EPHA2):c.1864+12C>T rs183236745 0.00718
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) rs35318346 0.00670
NM_014290.3(TDRD7):c.2489G>A (p.Arg830His) rs78820996 0.00648
NM_021954.4(GJA3):c.375A>G (p.Pro125=) rs111863858 0.00642
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) rs75648279 0.00632
NM_020989.4(CRYGC):c.123C>T (p.Gly41=) rs115828074 0.00612
NM_004431.5(EPHA2):c.86-9C>T rs138164293 0.00608
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly) rs114498261 0.00582
NM_003380.5(VIM):c.1009-10C>T rs79719081 0.00570
NM_014290.3(TDRD7):c.207+19G>A rs16920147 0.00568
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=) rs55655135 0.00541
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00540
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859 0.00520
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=) rs35676629 0.00491
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=) rs114895977 0.00475
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_004431.5(EPHA2):c.493G>A (p.Val165Met) rs150790360 0.00444
NM_001195.5(BFSP1):c.736-16G>A rs76806936 0.00427
NM_145649.5(GCNT2):c.926-34857G>A rs56106312 0.00419
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696 0.00410
NM_000394.4(CRYAA):c.324C>T (p.Gly108=) rs113802426 0.00399
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) rs35678722 0.00395
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly) rs147831812 0.00394
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln) rs114145679 0.00391
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) rs116404907 0.00390
NM_024513.4(FYCO1):c.630+15G>T rs76456912 0.00389
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg) rs142618914 0.00387
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530 0.00381
NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn) rs149859061 0.00366
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692 0.00363
NM_017541.4(CRYGS):c.24T>A (p.Ile8=) rs113031838 0.00359
NM_001886.3(CRYBA4):c.40-1G>C rs142090709 0.00358
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=) rs55700006 0.00355
NM_018238.4(AGK):c.101+5C>T rs150421355 0.00346
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) rs368180843 0.00339
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu) rs35484156 0.00309
NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val) rs201011907 0.00303
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) rs149933083 0.00301
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665 0.00299
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737 0.00295
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr) rs11543934 0.00292
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn) rs115171763 0.00292
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val) rs142996076 0.00285
NM_001195.5(BFSP1):c.418A>G (p.Met140Val) rs142092768 0.00275
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_024513.4(FYCO1):c.869G>A (p.Arg290His) rs146311777 0.00269
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_001886.3(CRYBA4):c.307C>T (p.Arg103Cys) rs149353652 0.00265
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) rs548358901 0.00264
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205 0.00264
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_004431.5(EPHA2):c.507C>T (p.Ser169=) rs139064351 0.00254
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_004431.5(EPHA2):c.1313-20C>T rs146418694 0.00240
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu) rs144800101 0.00236
NM_018238.4(AGK):c.518+18G>A rs192082201 0.00235
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_012064.4(MIP):c.516C>T (p.His172=) rs36032520 0.00232
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668 0.00232
NM_001887.4(CRYBB1):c.432+15G>A rs181227194 0.00226
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) rs147206089 0.00220
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_012064.4(MIP):c.199G>A (p.Val67Ile) rs77163805 0.00215
NM_001195.5(BFSP1):c.762A>G (p.Lys254=) rs35042144 0.00210
NM_001887.4(CRYBB1):c.399T>C (p.Ser133=) rs34027527 0.00209
NM_001886.3(CRYBA4):c.324A>T (p.Thr108=) rs143137736 0.00206
NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr) rs117457580 0.00205
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu) rs145770544 0.00202
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) rs113517878 0.00200
NM_017541.4(CRYGS):c.294C>A (p.Ile98=) rs140421841 0.00198
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser) rs146972354 0.00186
NM_004431.5(EPHA2):c.1170C>T (p.His390=) rs113173342 0.00182
NM_001886.3(CRYBA4):c.216C>T (p.Gly72=) rs148454808 0.00179
NM_017541.4(CRYGS):c.306G>A (p.Gly102=) rs114186269 0.00176
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu) rs77431464 0.00169
NM_014290.3(TDRD7):c.2079+9G>A rs375910025 0.00169
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) rs148372193 0.00167
NM_018238.4(AGK):c.416C>G (p.Thr139Arg) rs144706178 0.00166
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) rs35269563 0.00161
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His) rs138818894 0.00159
NM_001374675.1(HSF4):c.561+4T>G rs180744555 0.00158
NM_004431.5(EPHA2):c.489G>A (p.Leu163=) rs146626026 0.00153
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=) rs149080726 0.00152
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) rs184524046 0.00148
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln) rs139176878 0.00147
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) rs145592908 0.00139
NM_020989.4(CRYGC):c.10-10T>C rs199901300 0.00136
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_005208.5(CRYBA1):c.97-8C>T rs376499974 0.00134
NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg) rs139535132 0.00133
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) rs201955819 0.00132
NM_014290.3(TDRD7):c.231C>T (p.Cys77=) rs143579801 0.00129
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101 0.00123
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956 0.00119
NM_020989.4(CRYGC):c.271C>T (p.Arg91Trp) rs140120148 0.00116
NM_003380.5(VIM):c.542A>C (p.Asp181Ala) rs149942621 0.00115
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_001886.3(CRYBA4):c.465G>A (p.Pro155=) rs117467748 0.00111
NM_003380.5(VIM):c.749A>G (p.Gln250Arg) rs145152785 0.00111
NM_003571.4(BFSP2):c.75G>A (p.Ala25=) rs146992682 0.00111
NM_003380.5(VIM):c.282C>T (p.Thr94=) rs144539901 0.00107
NM_003380.5(VIM):c.1008+18A>G rs368836644 0.00103
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=) rs141594918 0.00103
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser) rs150798461 0.00099
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) rs143080187 0.00094
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys) rs140697341 0.00086
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=) rs201532782 0.00083
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_003571.4(BFSP2):c.366G>A (p.Val122=) rs139476224 0.00079
NM_024513.4(FYCO1):c.3944+18C>G rs144463828 0.00076
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val) rs145703098 0.00069
NM_001161748.2(LIM2):c.57G>A (p.Leu19=) rs142517355 0.00068
NM_005360.5(MAF):c.649G>A (p.Gly217Ser) rs977933498 0.00068
NM_003571.4(BFSP2):c.246T>C (p.Ser82=) rs145934653 0.00067
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met) rs55747232 0.00067
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_020989.4(CRYGC):c.256G>T (p.Val86Phe) rs150910237 0.00066
NM_024513.4(FYCO1):c.1887C>T (p.Val629=) rs140372149 0.00066
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) rs146592828 0.00066
NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe) rs151173407 0.00065
NM_001195.5(BFSP1):c.675G>A (p.Leu225=) rs140834233 0.00064
NM_001374675.1(HSF4):c.81G>A (p.Leu27=) rs375172660 0.00063
NM_004076.5(CRYBB3):c.75+18G>A rs141199896 0.00063
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00061
NM_004431.5(EPHA2):c.453C>T (p.Thr151=) rs139200871 0.00060
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys) rs150085001 0.00056
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn) rs561395667 0.00056
NM_001161748.2(LIM2):c.175+83A>G rs201295572 0.00055
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_004431.5(EPHA2):c.2579G>A (p.Arg860His) rs139225059 0.00049
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp) rs144477083 0.00046
NM_005208.5(CRYBA1):c.75G>A (p.Pro25=) rs368469355 0.00044
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_005208.5(CRYBA1):c.555T>C (p.Cys185=) rs145678386 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) rs139107757 0.00042
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659 0.00041
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=) rs55740291 0.00039
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) rs201764993 0.00038
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr) rs139787163 0.00036
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00036
NM_024513.4(FYCO1):c.1425G>A (p.Glu475=) rs144119495 0.00036
NM_014290.3(TDRD7):c.1341C>T (p.Thr447=) rs143511562 0.00035
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_001374675.1(HSF4):c.627-11C>T rs199856104 0.00034
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His) rs149232677 0.00034
NM_020989.4(CRYGC):c.84G>A (p.Pro28=) rs142890808 0.00034
NM_014290.3(TDRD7):c.444C>T (p.Asn148=) rs144510531 0.00033
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu) rs147971015 0.00032
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu) rs185816798 0.00031
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) rs770718484 0.00031
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_001195.5(BFSP1):c.183C>T (p.Leu61=) rs545346553 0.00030
NM_001161748.2(LIM2):c.175+50G>A rs147625714 0.00029
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) rs779251021 0.00029
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619 0.00029
NM_024513.4(FYCO1):c.2622G>A (p.Gln874=) rs761900261 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met) rs145017887 0.00027
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr) rs140135049 0.00027
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr) rs147718368 0.00026
NM_003380.5(VIM):c.987A>G (p.Glu329=) rs147429387 0.00026
NM_017541.4(CRYGS):c.215G>A (p.Arg72His) rs144812537 0.00026
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn) rs200708134 0.00025
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_000394.4(CRYAA):c.198C>T (p.Ser66=) rs527765691 0.00024
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser) rs140057151 0.00024
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val) rs147977279 0.00023
NM_020989.4(CRYGC):c.120C>T (p.Ser40=) rs184571576 0.00023
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val) rs148445016 0.00023
NM_004431.5(EPHA2):c.2472C>T (p.His824=) rs145425916 0.00022
NM_020989.4(CRYGC):c.10-14T>C rs367944766 0.00022
NM_000394.4(CRYAA):c.189+14C>T rs191516889 0.00021
NM_003380.5(VIM):c.911G>A (p.Arg304Gln) rs552165238 0.00021
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys) rs144172331 0.00020
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) rs142111893 0.00019
NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys) rs148083686 0.00019
NM_003571.4(BFSP2):c.720C>T (p.Asn240=) rs376911067 0.00019
NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys) rs370785666 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_001161748.2(LIM2):c.281G>A (p.Arg94His) rs770425768 0.00018
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln) rs148119487 0.00017
NM_003571.4(BFSP2):c.51C>T (p.Ser17=) rs141310092 0.00017
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=) rs367756178 0.00016
NM_003380.5(VIM):c.384T>C (p.Asn128=) rs147857896 0.00016
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_005267.5(GJA8):c.1248G>T (p.Leu416=) rs200369834 0.00016
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) rs3821885 0.00015
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) rs142030761 0.00014
NM_004076.5(CRYBB3):c.263G>A (p.Arg88His) rs138167578 0.00014
NM_014290.3(TDRD7):c.350-10A>G rs201833921 0.00014
NM_024513.4(FYCO1):c.546G>A (p.Thr182=) rs201372127 0.00014
NM_024513.4(FYCO1):c.678C>T (p.Asn226=) rs140730556 0.00014
NM_001491.3(GCNT2):c.60del (p.Ile20fs) rs1184095219 0.00013
NM_012064.4(MIP):c.378C>T (p.Ser126=) rs35033450 0.00013
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) rs141457141 0.00013
NM_018238.4(AGK):c.222-13C>T rs374601217 0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_018238.4(AGK):c.852G>A (p.Ala284=) rs183816817 0.00013
NM_021954.4(GJA3):c.771C>A (p.Pro257=) rs553789027 0.00013
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=) rs370574556 0.00013
NM_014290.3(TDRD7):c.295C>T (p.Arg99Cys) rs200783564 0.00012
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) rs377677067 0.00012
NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu) rs777977625 0.00011
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=) rs143828420 0.00011
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_014290.3(TDRD7):c.1629+7A>G rs151288166 0.00011
NM_020989.4(CRYGC):c.52G>A (p.Glu18Lys) rs145041511 0.00011
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) rs146763276 0.00010
NM_003380.5(VIM):c.1360-17T>G rs764183925 0.00010
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys) rs201941686 0.00010
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=) rs140726562 0.00010
NM_005210.4(CRYGB):c.44G>A (p.Arg15His) rs370450145 0.00010
NM_005360.5(MAF):c.285C>A (p.Thr95=) rs369752568 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321 0.00010
NM_001161748.2(LIM2):c.369C>T (p.Thr123=) rs200033512 0.00009
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp) rs372210205 0.00009
NM_001491.3(GCNT2):c.741G>A (p.Ala247=) rs200874437 0.00009
NM_001491.3(GCNT2):c.816C>T (p.Ala272=) rs773819612 0.00009
NM_001887.4(CRYBB1):c.510C>T (p.Asp170=) rs748025775 0.00009
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_012064.4(MIP):c.713A>C (p.Lys238Thr) rs755752015 0.00009
NM_014290.3(TDRD7):c.391A>G (p.Asn131Asp) rs200841827 0.00009
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_021954.4(GJA3):c.672C>T (p.His224=) rs757939318 0.00009
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) rs72889997 0.00009
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) rs148284531 0.00009
NM_000394.4(CRYAA):c.335G>A (p.Arg112His) rs200594555 0.00008
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys) rs369609046 0.00008
NM_000496.3(CRYBB2):c.231T>C (p.Gly77=) rs761853361 0.00008
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp) rs139154341 0.00008
NM_001195.5(BFSP1):c.735+9G>A rs774559581 0.00008
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His) rs138475231 0.00008
NM_001374675.1(HSF4):c.250G>C (p.Val84Leu) rs747840876 0.00007
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_001886.3(CRYBA4):c.61G>A (p.Gly21Ser) rs201421932 0.00007
NM_004431.5(EPHA2):c.2682G>A (p.Arg894=) rs747921529 0.00007
NM_018238.4(AGK):c.519-5T>C rs755469922 0.00007
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) rs543711227 0.00007
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln) rs755500518 0.00007
NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu) rs377256529 0.00007
NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp) rs376164744 0.00006
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) rs770592991 0.00006
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) rs769620041 0.00006
NM_001161748.2(LIM2):c.326-15G>A rs752385175 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_001887.4(CRYBB1):c.507C>T (p.Asp169=) rs549883505 0.00006
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004431.5(EPHA2):c.153+15G>A rs753000983 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_004431.5(EPHA2):c.606C>T (p.Pro202=) rs201175373 0.00006
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_014290.3(TDRD7):c.2104T>A (p.Ser702Thr) rs946019953 0.00006
NM_017541.4(CRYGS):c.265-12G>A rs367680173 0.00006
NM_018238.4(AGK):c.327C>T (p.Leu109=) rs148971840 0.00006
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) rs770394329 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.976-20A>G rs201192380 0.00006
NM_020989.4(CRYGC):c.55A>G (p.Thr19Ala) rs546890057 0.00006
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) rs774444626 0.00006
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val) rs142098311 0.00006
NM_176812.5(CHMP4B):c.191-5C>T rs377095745 0.00006
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) rs374476265 0.00005
NM_018238.4(AGK):c.297+2T>C rs765471424 0.00005
NM_018238.4(AGK):c.621C>T (p.Thr207=) rs140431258 0.00005
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_020989.4(CRYGC):c.121G>A (p.Gly41Ser) rs559463428 0.00005
NM_020989.4(CRYGC):c.253-7C>T rs754304396 0.00005
NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys) rs368393196 0.00005
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=) rs759845569 0.00005
NM_001195.5(BFSP1):c.627+9T>G rs776455142 0.00004
NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp) rs199896245 0.00004
NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr) rs758027535 0.00004
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) rs200427106 0.00004
NM_001886.3(CRYBA4):c.158+1G>A rs752903519 0.00004
NM_001887.4(CRYBB1):c.717C>T (p.Leu239=) rs779509832 0.00004
NM_003380.5(VIM):c.758A>G (p.His253Arg) rs773762488 0.00004
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp) rs200862865 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004431.5(EPHA2):c.141G>A (p.Pro47=) rs370213656 0.00004
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=) rs746512965 0.00004
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) rs754447639 0.00004
NM_004431.5(EPHA2):c.681C>T (p.Ala227=) rs770700471 0.00004
NM_005208.5(CRYBA1):c.97-20G>A rs201548192 0.00004
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 0.00004
NM_014290.3(TDRD7):c.1261C>A (p.His421Asn) rs112811088 0.00004
NM_014290.3(TDRD7):c.2872G>A (p.Ala958Thr) rs751158396 0.00004
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala) rs375632598 0.00004
NM_018238.4(AGK):c.101+7A>C rs373899577 0.00004
NM_018238.4(AGK):c.142-11T>C rs899737243 0.00004
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) rs565745559 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_020989.4(CRYGC):c.280G>A (p.Glu94Lys) rs200572745 0.00004
NM_020989.4(CRYGC):c.33C>T (p.Ala11=) rs533923837 0.00004
NM_020989.4(CRYGC):c.365G>A (p.Arg122His) rs544008612 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg) rs146010173 0.00004
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) rs745338967 0.00004
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His) rs375376263 0.00004
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00004
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly) rs778635228 0.00004
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) rs397515623 0.00003
NM_001195.5(BFSP1):c.735+17C>T rs368674829 0.00003
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) rs560637463 0.00003
NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val) rs530186829 0.00003
NM_001886.3(CRYBA4):c.300+2T>C rs372271933 0.00003
NM_001886.3(CRYBA4):c.40-5C>T rs751503329 0.00003
NM_003380.5(VIM):c.1009-8C>A rs372984113 0.00003
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) rs758978165 0.00003
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=) rs55660973 0.00003
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) rs750878968 0.00003
NM_004431.5(EPHA2):c.1734G>A (p.Lys578=) rs1156858324 0.00003
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) rs373953344 0.00003
NM_004431.5(EPHA2):c.2116-6C>T rs765586631 0.00003
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=) rs372191320 0.00003
NM_004431.5(EPHA2):c.390C>T (p.Tyr130=) rs374988801 0.00003
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) rs773038726 0.00003
NM_005267.5(GJA8):c.477C>T (p.Thr159=) rs782140553 0.00003
NM_005267.5(GJA8):c.487G>A (p.Val163Met) rs374680617 0.00003
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00003
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_017541.4(CRYGS):c.236G>A (p.Arg79His) rs764969189 0.00003
NM_018238.4(AGK):c.221+9G>A rs200123164 0.00003
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) rs762680550 0.00003
NM_018238.4(AGK):c.589-20G>T rs751876434 0.00003
NM_020989.4(CRYGC):c.258C>T (p.Val86=) rs761447168 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) rs751793566 0.00003
NM_024513.4(FYCO1):c.2844G>A (p.Glu948=) rs182162227 0.00003
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) rs149020169 0.00003
NM_176812.5(CHMP4B):c.240G>A (p.Ala80=) rs774485925 0.00003
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala) rs765835212 0.00003
NM_000394.4(CRYAA):c.111G>A (p.Leu37=) rs151213687 0.00002
NM_000394.4(CRYAA):c.75G>C (p.Gln25His) rs754701447 0.00002
NM_000496.3(CRYBB2):c.279C>T (p.Ser93=) rs371287851 0.00002
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln) rs765144287 0.00002
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala) rs756439203 0.00002
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile) rs752902567 0.00002
NM_001374675.1(HSF4):c.1255-2A>G rs1456161420 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser) rs372922337 0.00002
NM_003571.4(BFSP2):c.24G>A (p.Val8=) rs777311531 0.00002
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_003571.4(BFSP2):c.522C>T (p.Leu174=) rs375822049 0.00002
NM_004076.5(CRYBB3):c.327+13C>T rs1013210463 0.00002
NM_004431.5(EPHA2):c.1429-4A>G rs374403114 0.00002
NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val) rs140392218 0.00002
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu) rs747087417 0.00002
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=) rs755489260 0.00002
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_014290.3(TDRD7):c.1276A>G (p.Ile426Val) rs766673237 0.00002
NM_018238.4(AGK):c.243A>G (p.Glu81=) rs745864268 0.00002
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) rs568195338 0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile) rs747244579 0.00002
NM_018238.4(AGK):c.63G>C (p.Leu21=) rs779484397 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_024513.4(FYCO1):c.1677G>A (p.Pro559=) rs928579946 0.00002
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) rs367690473 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser) rs568547927 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys) rs74315441 0.00001
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr) rs1227057051 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_001161748.2(LIM2):c.175+87A>G rs369343996 0.00001
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln) rs780229198 0.00001
NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=) rs760220303 0.00001
NM_001195.5(BFSP1):c.735+19C>T rs747126284 0.00001
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter) rs1246080692 0.00001
NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser) rs932918368 0.00001
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly) rs753084587 0.00001
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) rs770940749 0.00001
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs) rs949335475 0.00001
NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr) rs776573050 0.00001
NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu) rs1305546354 0.00001
NM_001886.3(CRYBA4):c.40-7G>T rs764078479 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NM_001886.3(CRYBA4):c.81C>T (p.His27=) rs138148141 0.00001
NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys) rs762762177 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_003380.5(VIM):c.134G>A (p.Arg45His) rs778098458 0.00001
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) rs773938980 0.00001
NM_003380.5(VIM):c.99G>T (p.Thr33=) rs531385322 0.00001
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg) rs746239628 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004076.5(CRYBB3):c.51T>C (p.His17=) rs1449380333 0.00001
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) rs761928478 0.00001
NM_004431.5(EPHA2):c.1062C>T (p.Ser354=) rs781610786 0.00001
NM_004431.5(EPHA2):c.1312+10del rs751606166 0.00001
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=) rs774658304 0.00001
NM_004431.5(EPHA2):c.1950C>T (p.Ala650=) rs370135733 0.00001
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) rs765261745 0.00001
NM_004431.5(EPHA2):c.2116-9C>T rs753038083 0.00001
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) rs2024583180 0.00001
NM_004431.5(EPHA2):c.2326-4G>A rs781762535 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) rs754323552 0.00001
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) rs745991398 0.00001
NM_005208.5(CRYBA1):c.357+7C>T rs1473744071 0.00001
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) rs1380012052 0.00001
NM_005208.5(CRYBA1):c.500+17G>A rs761853246 0.00001
NM_005210.4(CRYGB):c.312A>G (p.Ser104=) rs200750137 0.00001
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro) rs1045592971 0.00001
NM_005210.4(CRYGB):c.513C>T (p.Val171=) rs541388467 0.00001
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) rs781871271 0.00001
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) rs782429592 0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005267.5(GJA8):c.317G>A (p.Arg106His) rs917690151 0.00001
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) rs1368547478 0.00001
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) rs775799498 0.00001
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184 0.00001
NM_012064.4(MIP):c.119A>G (p.His40Arg) rs1436119727 0.00001
NM_014290.3(TDRD7):c.2223T>C (p.Thr741=) rs374967438 0.00001
NM_014290.3(TDRD7):c.2941A>G (p.Ile981Val) rs763792246 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) rs758400042 0.00001
NM_014290.3(TDRD7):c.605A>G (p.His202Arg) rs200603850 0.00001
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys) rs1035614113 0.00001
NM_018238.4(AGK):c.1197G>A (p.Leu399=) rs139412235 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter) rs1199705359 0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=) rs748557845 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr) rs1351742978 0.00001
NM_020989.4(CRYGC):c.304A>G (p.Met102Val) rs756540358 0.00001
NM_021954.4(GJA3):c.655A>G (p.Met219Val) rs746511873 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NM_024513.4(FYCO1):c.108G>A (p.Thr36=) rs558777911 0.00001
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr) rs752338309 0.00001
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) rs746026639 0.00001
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=) rs552928719 0.00001
NM_024513.4(FYCO1):c.2334G>A (p.Leu778=) rs369350326 0.00001
NM_024513.4(FYCO1):c.241G>A (p.Val81Met) rs1167055520 0.00001
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=) rs1575368474 0.00001
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp) rs1346321563 0.00001
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His) rs775657304 0.00001
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys) rs776739152 0.00001
NM_024513.4(FYCO1):c.4254C>A (p.Val1418=) rs1553620269 0.00001
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695 0.00001
NM_024513.4(FYCO1):c.816G>A (p.Glu272=) rs375970181 0.00001
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660 0.00001
NC_000001.10:g.(?_146714354)_(147381384_?)del
NC_000001.10:g.(?_146714354)_(147381384_?)dup
NC_000001.10:g.(?_147380063)_(147381404_?)del
NC_000001.10:g.(?_16451710)_(16532835_?)del
NC_000001.10:g.(?_16460943)_(16482447_?)dup
NC_000002.12:g.208146167G>A rs2289917
NC_000006.11:g.(?_10398650)_(10882026_?)dup
NC_000006.11:g.(?_10556657)_(10626840_?)del
NC_000006.12:g.(?_10528892)_(10557362_?)del
NC_000006.12:g.(?_10556404)_(10626627_?)del
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NC_000013.10:g.(?_20716100)_(20717447_?)dup
NC_000013.11:g.(?_20141961)_(20824841_?)del
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NC_000016.9:g.(?_65821800)_(67208957_?)del
NC_000017.10:g.(?_27579473)_(27581294_?)del
NC_000020.10:g.(?_17462209)_(17511974_?)dup
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NC_000022.10:g.(?_25601167)_(25601349_?)dup
NC_000022.10:g.(?_26142492)_(27026451_?)del
NC_000022.10:g.(?_26995454)_(26995657_?)del
NM_000394.4(CRYAA):c.159C>T (p.Phe53=)
NM_000394.4(CRYAA):c.189+15G>A rs377222721
NM_000394.4(CRYAA):c.190-24_190-10del
NM_000394.4(CRYAA):c.199G>C (p.Asp67His) rs747872625
NM_000394.4(CRYAA):c.213C>T (p.Phe71=)
NM_000394.4(CRYAA):c.225C>T (p.Leu75=)
NM_000394.4(CRYAA):c.249G>A (p.Glu83=)
NM_000394.4(CRYAA):c.291C>T (p.His97=)
NM_000394.4(CRYAA):c.303C>T (p.Asn101=)
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup) rs2146498671
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) rs74315439
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) rs121912973
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.35G>A (p.Arg12His) rs776884812
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000394.4(CRYAA):c.486G>A (p.Ser162=) rs376490511
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000496.3(CRYBB2):c.135C>T (p.Gly45=)
NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) rs1555888762
NM_000496.3(CRYBB2):c.173+1G>T rs770540384
NM_000496.3(CRYBB2):c.174-12T>A
NM_000496.3(CRYBB2):c.273G>A (p.Thr91=)
NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)
NM_000496.3(CRYBB2):c.307-12C>T
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu) rs1395903116
NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)
NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu) rs2146093751
NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)
NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) rs1935496594
NM_000496.3(CRYBB2):c.449+18C>T
NM_000496.3(CRYBB2):c.449+6T>A
NM_000496.3(CRYBB2):c.450-16A>C
NM_000496.3(CRYBB2):c.450-19A>C
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) rs1569022638
NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) rs1555889308
NM_000496.3(CRYBB2):c.563G>A (p.Arg188His) rs886041410
NM_000496.3(CRYBB2):c.573C>T (p.Arg191=)
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) rs1935386462
NM_001161748.2(LIM2):c.144C>T (p.Gly48=)
NM_001161748.2(LIM2):c.175+46G>A rs1987086753
NM_001161748.2(LIM2):c.222C>T (p.Cys74=)
NM_001161748.2(LIM2):c.321del (p.Ser108fs) rs1986917705
NM_001161748.2(LIM2):c.337G>A (p.Val113Met) rs73934370
NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter) rs1212925287
NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)
NM_001161748.2(LIM2):c.460+13A>T
NM_001161748.2(LIM2):c.460+19G>C
NM_001161748.2(LIM2):c.461-15C>A
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)
NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs) rs1555799947
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)
NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro) rs2123536475
NM_001195.5(BFSP1):c.30C>T (p.Thr10=)
NM_001195.5(BFSP1):c.366G>A (p.Glu122=)
NM_001195.5(BFSP1):c.378-16T>C rs1600661739
NM_001195.5(BFSP1):c.384A>G (p.Glu128=)
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)
NM_001195.5(BFSP1):c.561C>T (p.Ile187=)
NM_001195.5(BFSP1):c.628-14C>T
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)
NM_001195.5(BFSP1):c.93C>A (p.Ala31=)
NM_001195.5(BFSP1):c.956+7G>C rs202146533
NM_001195.5(BFSP1):c.957-3C>T
NM_001374675.1(HSF4):c.1162dup (p.Ser388fs) rs2145927381
NM_001374675.1(HSF4):c.1324+8T>A rs2145929301
NM_001374675.1(HSF4):c.1341C>G (p.Leu447=) rs35750776
NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp) rs2031203924
NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)
NM_001374675.1(HSF4):c.232+4A>G rs1567668314
NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)
NM_001374675.1(HSF4):c.330C>G (p.Arg110=) rs754881447
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
NM_001374675.1(HSF4):c.350T>G (p.Val117Gly) rs1555549881
NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp) rs1567668570
NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)
NM_001374675.1(HSF4):c.360G>A (p.Lys120=)
NM_001374675.1(HSF4):c.361-17G>A
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)
NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)
NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg) rs1567668765
NM_001374675.1(HSF4):c.561+16del
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)
NM_001374675.1(HSF4):c.730-22G>A
NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)
NM_001374675.1(HSF4):c.89del (p.Asp30fs) rs1555549755
NM_001374675.1(HSF4):c.965dup (p.Pro323fs) rs776129797
NM_001491.3(GCNT2):c.558C>T (p.Ile186=) rs763988372
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) rs1554129925
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
NM_001491.3(GCNT2):c.760del (p.His254fs)
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) rs771422892
NM_001886.3(CRYBA4):c.108G>A (p.Val36=)
NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro) rs1929601316
NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer) rs2145979078
NM_001886.3(CRYBA4):c.159-21_159-20inv
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) rs1929674480
NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis) rs1929675709
NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter) rs199635152
NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser) rs1929676368
NM_001886.3(CRYBA4):c.258C>T (p.Tyr86=)
NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)
NM_001886.3(CRYBA4):c.300+1del
NM_001886.3(CRYBA4):c.318G>A (p.Arg106=)
NM_001886.3(CRYBA4):c.345C>T (p.Phe115=)
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
NM_001886.3(CRYBA4):c.384C>T (p.Ser128=)
NM_001886.3(CRYBA4):c.40-11T>C
NM_001886.3(CRYBA4):c.40-11del
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
NM_001886.3(CRYBA4):c.510C>T (p.Ser170=)
NM_001886.3(CRYBA4):c.540C>A (p.Gly180=)
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) rs758790937
NM_001886.3(CRYBA4):c.60C>T (p.Asp20=)
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) rs1602338380
NM_001886.3(CRYBA4):c.89C>T (p.Thr30Met)
NM_001886.3(CRYBA4):c.90G>A (p.Thr30=)
NM_001887.4(CRYBB1):c.155C>A (p.Ala52Glu) rs533765538
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=) rs1569206910
NM_001887.4(CRYBB1):c.299+16C>A rs57400078
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
NM_001887.4(CRYBB1):c.432+5G>C rs1555940959
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs) rs1569203234
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)
NM_001887.4(CRYBB1):c.698G>A (p.Arg233His)
NM_001887.4(CRYBB1):c.712dup (p.His238fs) rs1602319108
NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
NM_003380.5(VIM):c.1122G>A (p.Glu374=)
NM_003380.5(VIM):c.1360-18G>T
NM_003380.5(VIM):c.1360-7del
NM_003380.5(VIM):c.1360-7dup rs750651760
NM_003380.5(VIM):c.1368C>T (p.Asn456=)
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) rs1846907790
NM_003380.5(VIM):c.423A>G (p.Gln141=) rs2131679660
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
NM_003380.5(VIM):c.468G>C (p.Glu156Asp) rs1846752790
NM_003380.5(VIM):c.563+15A>C
NM_003380.5(VIM):c.598G>C (p.Glu200Gln) rs1037734535
NM_003380.5(VIM):c.624+17C>G
NM_003380.5(VIM):c.624+7A>C rs376197279
NM_003380.5(VIM):c.624+7A>G
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
NM_003380.5(VIM):c.720+18C>T rs7096093
NM_003380.5(VIM):c.807G>T (p.Leu269=) rs745874397
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)
NM_003380.5(VIM):c.882+20G>A
NM_003380.5(VIM):c.990G>C (p.Val330=)
NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly) rs144693104
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
NM_003571.4(BFSP2):c.166del (p.Val56fs) rs1576552712
NM_003571.4(BFSP2):c.185C>A (p.Pro62His)
NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)
NM_003571.4(BFSP2):c.215G>A (p.Arg72His)
NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del) rs2107871422
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del) rs121908938
NM_003571.4(BFSP2):c.859C>A (p.Arg287=) rs104893685
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
NM_003571.4(BFSP2):c.888T>G (p.Ala296=) rs199694156
NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met) rs1363417170
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu) rs1935047601
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
NM_004076.5(CRYBB3):c.75+7G>C
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)
NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) rs1248366791
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)
NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)
NM_004431.5(EPHA2):c.1200C>T (p.Ser400=)
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala) rs1181387702
NM_004431.5(EPHA2):c.1428+16G>A
NM_004431.5(EPHA2):c.1428+18G>A
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
NM_004431.5(EPHA2):c.153+20G>A
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
NM_004431.5(EPHA2):c.1582+1G>A rs1570403798
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=) rs2124200644
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser) rs922655349
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp) rs55869078
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=) rs143247718
NM_004431.5(EPHA2):c.252C>T (p.Asn84=)
NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)
NM_004431.5(EPHA2):c.267A>G (p.Gly89=)
NM_004431.5(EPHA2):c.2694G>A (p.Thr898=)
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) rs903033191
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro) rs775490586
NM_004431.5(EPHA2):c.2826-35_2890del
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs) rs2024441691
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
NM_004431.5(EPHA2):c.438G>A (p.Ala146=)
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
NM_004431.5(EPHA2):c.714G>C (p.Pro238=) rs36037949
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) rs1569602837
NM_004431.5(EPHA2):c.824-7C>T rs1301165838
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp) rs759269511
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His) rs147994059
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) rs2068927678
NM_005208.5(CRYBA1):c.215+1G>C rs1264025914
NM_005208.5(CRYBA1):c.215+1G>T rs1264025914
NM_005208.5(CRYBA1):c.215+5G>A
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=) rs759439567
NM_005208.5(CRYBA1):c.31+7A>G rs757547144
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val)
NM_005208.5(CRYBA1):c.358-11C>G
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs) rs2153009713
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del) rs1555547008
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) rs773038726
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005210.4(CRYGB):c.179G>A (p.Arg60His)
NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)
NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu) rs200143566
NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)
NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA rs386654563
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
NM_005267.5(GJA8):c.1125dup (p.Gly376fs)
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) rs782314953
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)
NM_005267.5(GJA8):c.117G>A (p.Thr39=)
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys) rs983216627
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly) rs2149015418
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)
NM_005267.5(GJA8):c.150C>T (p.Ser50=)
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
NM_005267.5(GJA8):c.180C>T (p.Gly60=)
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) rs1571175950
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) rs1651881222
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) rs1651881222
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) rs781782991
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) rs80358200
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg)
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.264G>C (p.Pro88=) rs1227166611
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.426G>A (p.Arg142=)
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg) rs2149015799
NM_005267.5(GJA8):c.481T>G (p.Phe161Val) rs1558009685
NM_005267.5(GJA8):c.499G>T (p.Val167Leu) rs1426006227
NM_005267.5(GJA8):c.528G>T (p.Arg176=)
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) rs1651919374
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser)
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) rs2149016020
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly) rs1558009094
NM_005267.5(GJA8):c.756C>T (p.Leu252=)
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu) rs1571177590
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)
NM_005267.5(GJA8):c.978G>A (p.Val326=)
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840
NM_005360.5(MAF):c.1119-12T>C
NM_005360.5(MAF):c.138C>T (p.Cys46=)
NM_005360.5(MAF):c.185C>T (p.Thr62Met) rs727502771
NM_005360.5(MAF):c.260A>C (p.His87Pro)
NM_005360.5(MAF):c.264G>A (p.Leu88=)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.308C>A (p.Pro103His)
NM_005360.5(MAF):c.435_440del (p.143GA[2]) rs753758729
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
NM_005360.5(MAF):c.528C>G (p.Gly176=) rs2143809805
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) rs887468453
NM_005360.5(MAF):c.696C>T (p.Gly232=) rs868331592
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)
NM_005360.5(MAF):c.726G>T (p.Ala242=)
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.797T>G (p.Leu266Arg) rs2143802492
NM_005360.5(MAF):c.810T>G (p.Ser270=) rs2143802343
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
NM_005360.5(MAF):c.828G>A (p.Arg276=)
NM_005360.5(MAF):c.861C>T (p.Ile287=)
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.892A>C (p.Asn298His)
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
NM_005360.5(MAF):c.895C>T (p.Arg299Cys) rs786205221
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
NM_005360.5(MAF):c.905C>A (p.Ala302Asp) rs1481963503
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) rs1913782042
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)
NM_005360.5(MAF):c.939A>G (p.Arg313=) rs1231719173
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)
NM_012064.4(MIP):c.323C>T (p.Thr108Ile) rs760722691
NM_012064.4(MIP):c.433A>C (p.Ile145Leu) rs1868692984
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
NM_012064.4(MIP):c.525+1G>A rs1868687508
NM_012064.4(MIP):c.560G>T (p.Arg187Leu) rs759746926
NM_012064.4(MIP):c.606+1G>C rs1220143491
NM_012064.4(MIP):c.606+1G>T
NM_012064.4(MIP):c.623del (p.Pro208fs) rs1555179713
NM_012064.4(MIP):c.638del (p.Gly213fs) rs398122378
NM_012064.4(MIP):c.714G>A (p.Lys238=)
NM_012064.4(MIP):c.97C>T (p.Arg33Cys) rs864309693
NM_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)
NM_014290.3(TDRD7):c.1572C>T (p.Ala524=)
NM_014290.3(TDRD7):c.1760A>G (p.Asp587Gly) rs1828932238
NM_014290.3(TDRD7):c.1857G>A (p.Leu619=)
NM_014290.3(TDRD7):c.2025T>A (p.Gly675=) rs1828958858
NM_014290.3(TDRD7):c.2147G>A (p.Gly716Glu)
NM_014290.3(TDRD7):c.2338A>G (p.Ile780Val)
NM_014290.3(TDRD7):c.2344A>C (p.Met782Leu) rs752597965
NM_014290.3(TDRD7):c.2344A>G (p.Met782Val)
NM_014290.3(TDRD7):c.2412+8A>G
NM_014290.3(TDRD7):c.2494A>G (p.Ile832Val)
NM_014290.3(TDRD7):c.2603C>T (p.Pro868Leu) rs764446051
NM_014290.3(TDRD7):c.2641C>G (p.Leu881Val)
NM_014290.3(TDRD7):c.2683G>A (p.Ala895Thr)
NM_014290.3(TDRD7):c.2684C>A (p.Ala895Asp)
NM_014290.3(TDRD7):c.2841A>G (p.Leu947=)
NM_014290.3(TDRD7):c.2915+11G>A
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val) rs202206922
NM_014290.3(TDRD7):c.3010A>G (p.Lys1004Glu)
NM_014290.3(TDRD7):c.624T>C (p.Thr208=)
NM_014290.3(TDRD7):c.692C>G (p.Thr231Ser) rs756033246
NM_014290.3(TDRD7):c.825A>G (p.Gln275=)
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)
NM_017541.4(CRYGS):c.21+6T>C
NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp) rs761628147
NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg) rs1714002505
NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr) rs1714002434
NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr) rs1553846926
NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr) rs1275239379
NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)
NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys) rs143424000
NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)
NM_018238.4(AGK):c.101+13C>G
NM_018238.4(AGK):c.101+4_101+7dup
NM_018238.4(AGK):c.1035dup (p.Ile346fs) rs1259937492
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1046+11T>C
NM_018238.4(AGK):c.1046+13G>C
NM_018238.4(AGK):c.1046+7G>T
NM_018238.4(AGK):c.1047-12C>G
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1047-7C>T
NM_018238.4(AGK):c.1047-8G>A
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1068C>T (p.Pro356=)
NM_018238.4(AGK):c.1077C>T (p.His359=)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) rs748320721
NM_018238.4(AGK):c.1089G>A (p.Thr363=)
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1131+19G>A
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1132-13C>A
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1140G>A (p.Gly380=)
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) rs1554405928
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1176G>C (p.Ala392=)
NM_018238.4(AGK):c.1236G>A (p.Lys412=)
NM_018238.4(AGK):c.1260C>T (p.Pro420=)
NM_018238.4(AGK):c.1263C>A (p.Thr421=) rs1166298575
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.141+16del
NM_018238.4(AGK):c.142-10del
NM_018238.4(AGK):c.142-14C>G
NM_018238.4(AGK):c.142-18T>G
NM_018238.4(AGK):c.142-4T>C
NM_018238.4(AGK):c.142-8T>A
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.174A>G (p.Ala58=)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.221+13G>A
NM_018238.4(AGK):c.222-20A>G
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.237A>G (p.Leu79=)
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.267T>C (p.His89=)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.298-18G>A
NM_018238.4(AGK):c.298-18G>C
NM_018238.4(AGK):c.298-18G>T
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.391-13A>G rs752545115
NM_018238.4(AGK):c.391-6T>C
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.396T>C (p.Val132=)
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.411A>T (p.Arg137=)
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.423+19T>C
NM_018238.4(AGK):c.424-14C>T
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-3del
NM_018238.4(AGK):c.424-3dup rs201762775
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-4C>T
NM_018238.4(AGK):c.424-5C>A rs113599212
NM_018238.4(AGK):c.424-5C>G rs113599212
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.424-6C>T
NM_018238.4(AGK):c.424-8C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.462G>A (p.Leu154=)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) rs888790526
NM_018238.4(AGK):c.492C>G (p.Leu164=) rs1485021759
NM_018238.4(AGK):c.495T>C (p.Phe165=)
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
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.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_020989.4(CRYGC):c.135C>G (p.Leu45=) rs1437464751
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro) rs104893618
NM_020989.4(CRYGC):c.142C>T (p.Arg48Cys)
NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro) rs1553585708
NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)
NM_020989.4(CRYGC):c.212G>T (p.Gly71Val) rs1574551119
NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)
NM_020989.4(CRYGC):c.230G>A (p.Arg77His)
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) rs200505176
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)
NM_020989.4(CRYGC):c.413A>G (p.Asn138Ser)
NM_020989.4(CRYGC):c.418dup (p.Arg140fs) rs2105857887
NM_020989.4(CRYGC):c.423dup (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.44G>A (p.Arg15His)
NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
NM_020989.4(CRYGC):c.61_63del (p.Thr21del)
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) rs11617415
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) rs1593332899
NM_021954.4(GJA3):c.130G>A (p.Val44Met) rs981126461
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) rs1566515377
NM_021954.4(GJA3):c.151G>C (p.Asp51His) rs2141138391
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) rs2141138370
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
NM_021954.4(GJA3):c.196T>C (p.Tyr66His)
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) rs1555339543
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys) rs1566515310
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) rs781267768
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) rs755792418
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) rs2141138491
NM_021954.4(GJA3):c.519C>T (p.Phe173=)
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) rs771424292
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) rs1958816239
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021954.4(GJA3):c.868del (p.Ala290fs)
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val) rs2125852762
NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser) rs533418314
NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)
NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)
NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His) rs762153899
NM_024513.4(FYCO1):c.2328G>A (p.Ala776=)
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) rs755356775
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs) rs2125846016
NM_024513.4(FYCO1):c.3270-6C>T rs113516581
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter) rs73830668
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)
NM_024513.4(FYCO1):c.3438-9_3438-8del rs536305273
NM_024513.4(FYCO1):c.3645C>T (p.His1215=)
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu) rs779617235
NM_024513.4(FYCO1):c.3799+12G>A
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs) rs777269054
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) rs1705246252
NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
NM_024513.4(FYCO1):c.417C>T (p.Ser139=)
NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)
NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe) rs2125787935
NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)
NM_024513.4(FYCO1):c.4362-2A>G
NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) rs1460800228
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs) rs2125859204
NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter) rs200679450
NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)
NM_024513.4(FYCO1):c.990G>A (p.Glu330=)
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter) rs2127444957
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) rs1554139314
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)
NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)
NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)
NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)
NM_176812.5(CHMP4B):c.368+15G>A rs199832068
NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln) rs118203966

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.