NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_019040.5(ELP4):c.927+4C>A
|
rs4922872
|
0.98610
|
NM_000280.4(PAX6):c.*3202G>A
|
rs608293
|
0.88020
|
NM_000280.4(PAX6):c.*2893_*2896dupATTT
|
rs397795797
|
0.87931
|
NM_000280.4(PAX6):c.*1184A>T
|
rs1506
|
0.72043
|
NM_000280.4(PAX6):c.*3958G>A
|
rs3026401
|
0.70691
|
NM_000245.4(MET):c.*1428G>A
|
rs1621
|
0.63315
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_000280.4(PAX6):c.*2160G>A
|
rs12421026
|
0.42881
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_000245.4(MET):c.*2240G>A
|
rs6566
|
0.34157
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
NM_000245.4(MET):c.*1028A>G
|
rs41738
|
0.34071
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
NM_000245.4(MET):c.*1326A>G
|
rs41739
|
0.34010
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
NM_000280.4(PAX6):c.*2707C>T
|
rs3026398
|
0.22983
|
NM_000245.4(MET):c.1944A>G (p.Gln648=)
|
rs13223756
|
0.16754
|
NC_000011.10:g.31787522C>T
|
rs662702
|
0.14929
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
NM_017583.6(TRIM44):c.670-27G>C
|
rs3740798
|
0.13698
|
NM_017583.6(TRIM44):c.*23A>G
|
rs61881297
|
0.12522
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_000245.4(MET):c.*684G>A
|
rs12540703
|
0.05662
|
NM_000280.4(PAX6):c.*4296G>C
|
rs16922475
|
0.05615
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_000280.4(PAX6):c.*2901T>C
|
rs542906080
|
0.04927
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_000280.4(PAX6):c.*3736_*3737delCA
|
rs141022497
|
0.02792
|
NM_000280.4(PAX6):c.*2305G>A
|
rs73477656
|
0.02650
|
NM_000245.4(MET):c.*216C>A
|
rs149188493
|
0.02223
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_000245.4(MET):c.-14-13C>T
|
rs36080330
|
0.00978
|
NM_000280.4(PAX6):c.*2559G>A
|
rs141344418
|
0.00935
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000280.4(PAX6):c.*2416G>T
|
rs79739975
|
0.00857
|
NM_000280.4(PAX6):c.*2985G>A
|
rs3026399
|
0.00813
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_000545.8(HNF1A):c.326+20C>A
|
rs80051981
|
0.00772
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_000245.4(MET):c.390C>T (p.Leu130=)
|
rs150588908
|
0.00740
|
NM_000280.4(PAX6):c.*2238T>G
|
rs73477658
|
0.00701
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_000245.4(MET):c.*2202G>A
|
rs14456
|
0.00515
|
NM_000245.4(MET):c.*1987C>T
|
rs76322625
|
0.00499
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000280.4(PAX6):c.*3670C>T
|
rs149777109
|
0.00394
|
NM_000245.4(MET):c.*1220G>A
|
rs139535303
|
0.00336
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_000280.4(PAX6):c.*3168C>T
|
rs187705792
|
0.00303
|
NM_000245.4(MET):c.*787G>A
|
rs143472935
|
0.00290
|
NM_000245.4(MET):c.*231T>G
|
rs59399612
|
0.00287
|
NM_000245.4(MET):c.*1010G>T
|
rs150534017
|
0.00272
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
NM_000245.4(MET):c.*87G>A
|
rs41281081
|
0.00250
|
NM_000245.4(MET):c.3522T>C (p.His1174=)
|
rs146651797
|
0.00243
|
NM_000280.4(PAX6):c.*2697T>A
|
rs138881442
|
0.00236
|
NM_000245.4(MET):c.*385G>A
|
rs181068390
|
0.00235
|
NM_000280.4(PAX6):c.*1063A>G
|
rs117590302
|
0.00220
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
NM_000280.4(PAX6):c.*1478C>T
|
rs181818313
|
0.00198
|
NM_000280.4(PAX6):c.*4370C>G
|
rs183115097
|
0.00194
|
NM_000245.4(MET):c.*201C>T
|
rs1129355
|
0.00192
|
NM_000280.4(PAX6):c.*2506C>T
|
rs3026397
|
0.00189
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000245.4(MET):c.*2100C>T
|
rs190739281
|
0.00165
|
NM_000245.4(MET):c.*1871G>A
|
rs139377965
|
0.00152
|
NM_000245.4(MET):c.*1224C>T
|
rs149713628
|
0.00150
|
NM_000280.4(PAX6):c.*1436G>A
|
rs138035131
|
0.00148
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_000280.4(PAX6):c.*5108A>G
|
rs146579778
|
0.00120
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_000245.4(MET):c.*656G>A
|
rs531456758
|
0.00104
|
NM_000280.4(PAX6):c.*3885G>T
|
rs183433948
|
0.00096
|
NM_000245.4(MET):c.*602C>T
|
rs147343288
|
0.00093
|
NM_000245.4(MET):c.*944A>G
|
rs565768785
|
0.00076
|
NM_000280.4(PAX6):c.*3428C>T
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_000245.4(MET):c.3549C>T (p.Gly1183=)
|
rs371165052
|
0.00074
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000545.8(HNF1A):c.210C>T (p.Ser70=)
|
rs146686581
|
0.00061
|
NM_000280.4(PAX6):c.*2882T>C
|
rs143185259
|
0.00060
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000245.4(MET):c.3810C>T (p.Gly1270=)
|
rs200865810
|
0.00039
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_000280.4(PAX6):c.*4627A>C
|
rs140971065
|
0.00030
|
NM_000245.4(MET):c.1191C>T (p.Cys397=)
|
rs35763409
|
0.00028
|
NM_000245.4(MET):c.4105T>C (p.Leu1369=)
|
rs45575438
|
0.00021
|
NM_000245.4(MET):c.3522+12G>T
|
rs200624981
|
0.00019
|
NM_000245.4(MET):c.1263C>T (p.Thr421=)
|
rs45499391
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_144997.7(FLCN):c.1538+10A>C
|
rs12451312
|
0.00010
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.960G>A (p.Ala320=)
|
rs191198682
|
0.00007
|
NM_000245.4(MET):c.36C>T (p.Leu12=)
|
rs188625702
|
0.00006
|
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)
|
rs752669237
|
0.00006
|
NM_000280.4(PAX6):c.*3318A>G
|
rs371438311
|
0.00006
|
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln)
|
rs45612435
|
0.00005
|
NM_000280.4(PAX6):c.*3746C>T
|
rs567720234
|
0.00005
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_000245.4(MET):c.*397A>G
|
rs559231345
|
0.00003
|
NM_000245.4(MET):c.690G>A (p.Thr230=)
|
rs200138253
|
0.00003
|
NM_000245.4(MET):c.1965+14T>C
|
rs543293293
|
0.00002
|
NM_000280.4(PAX6):c.*4696G>C
|
rs180780893
|
0.00002
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_000545.8(HNF1A):c.-4A>G
|
rs561269721
|
0.00001
|
NM_000245.4(MET):c.*1233G>A
|
rs560568639
|
|
NM_000245.4(MET):c.*1244G>A
|
rs144559852
|
|
NM_000245.4(MET):c.*376G>T
|
rs553602374
|
|
NM_000245.4(MET):c.-182C>A
|
rs536603694
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+59G>T
|
rs759007523
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000280.4(PAX6):c.*3246_*3247insTTTT
|
rs34919147
|
|
NM_000280.4(PAX6):c.*4599T>G
|
rs185968715
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|