NM_012293.3(PXDN):c.3921A>G (p.Val1307=)
|
rs6730800
|
0.86660
|
NM_012293.3(PXDN):c.1836T>C (p.Asn612=)
|
rs17841813
|
0.71557
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_012293.3(PXDN):c.2892C>T (p.Asn964=)
|
rs3811613
|
0.25189
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_012293.3(PXDN):c.3953-14T>C
|
rs7578605
|
0.09206
|
NM_012293.3(PXDN):c.1568-19C>G
|
rs7588627
|
0.07897
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_012293.3(PXDN):c.1946+6G>A
|
rs73178792
|
0.05765
|
NM_012293.3(PXDN):c.2661C>T (p.Ser887=)
|
rs1863134
|
0.04731
|
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=)
|
rs6752525
|
0.03782
|
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=)
|
rs73406891
|
0.03175
|
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_001453.3(FOXC1):c.405C>T (p.Cys135=)
|
rs2230096
|
0.03096
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_012293.3(PXDN):c.1182T>C (p.Ser394=)
|
rs76057922
|
0.01411
|
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)
|
rs566961335
|
0.01396
|
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)
|
rs6723697
|
0.01353
|
NM_012293.3(PXDN):c.111G>C (p.Pro37=)
|
rs140134102
|
0.01330
|
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=)
|
rs61976956
|
0.01306
|
NM_000325.6(PITX2):c.618T>G (p.Ser206=)
|
rs35946364
|
0.01175
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_012293.3(PXDN):c.4321-16C>T
|
rs113997519
|
0.01052
|
NM_153427.3(PITX2):c.46+8C>G
|
rs199896960
|
0.01041
|
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
|
rs145081583
|
0.01025
|
NM_153426.3(PITX2):c.46+8_46+9insTT
|
rs571056388
|
0.01006
|
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)
|
rs765169217
|
0.00868
|
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=)
|
rs61731247
|
0.00844
|
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)
|
rs61747868
|
0.00788
|
NM_012186.3(FOXE3):c.618C>G (p.Ala206=)
|
rs189628587
|
0.00737
|
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile)
|
rs61747875
|
0.00688
|
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)
|
rs115076385
|
0.00686
|
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu)
|
rs73910815
|
0.00635
|
NM_012293.3(PXDN):c.1242G>A (p.Ala414=)
|
rs111448491
|
0.00609
|
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met)
|
rs79322931
|
0.00537
|
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)
|
rs147066927
|
0.00460
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_012293.3(PXDN):c.1380G>A (p.Pro460=)
|
rs191647762
|
0.00406
|
NM_012293.3(PXDN):c.1018+9C>T
|
rs182152963
|
0.00400
|
NM_012293.3(PXDN):c.1113G>A (p.Pro371=)
|
rs200996147
|
0.00399
|
NM_012293.3(PXDN):c.1680+19G>A
|
rs201018276
|
0.00382
|
NM_001453.3(FOXC1):c.502C>T (p.Leu168=)
|
rs148739656
|
0.00363
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg)
|
rs75089353
|
0.00284
|
NM_012293.3(PXDN):c.1392C>T (p.Ile464=)
|
rs61749582
|
0.00278
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=)
|
rs76166083
|
0.00259
|
NM_012293.3(PXDN):c.1176G>T (p.Thr392=)
|
rs140056124
|
0.00223
|
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=)
|
rs372463004
|
0.00204
|
NM_012293.3(PXDN):c.4207-6C>T
|
rs117207020
|
0.00190
|
NM_012293.3(PXDN):c.488+8G>C
|
rs142878073
|
0.00184
|
NM_001368894.2(PAX6):c.1075-275A>C
|
rs3026392
|
0.00180
|
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=)
|
rs767285866
|
0.00177
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
|
rs202132697
|
0.00162
|
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp)
|
rs200127189
|
0.00160
|
NM_000325.6(PITX2):c.819G>A (p.Pro273=)
|
rs148191851
|
0.00135
|
NM_012186.3(FOXE3):c.276C>T (p.Leu92=)
|
rs143712915
|
0.00134
|
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)
|
rs775995985
|
0.00133
|
NM_012293.3(PXDN):c.648G>A (p.Ala216=)
|
rs183196973
|
0.00115
|
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=)
|
rs147851300
|
0.00114
|
NM_001453.3(FOXC1):c.207G>T (p.Pro69=)
|
rs35974174
|
0.00112
|
NM_001453.3(FOXC1):c.921C>T (p.Gly307=)
|
rs369300819
|
0.00105
|
NM_001453.3(FOXC1):c.114C>T (p.Thr38=)
|
rs538126253
|
0.00104
|
NM_012293.3(PXDN):c.2283C>T (p.Thr761=)
|
rs201654539
|
0.00098
|
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu)
|
rs201592851
|
0.00096
|
NM_012293.3(PXDN):c.531A>G (p.Thr177=)
|
rs577963506
|
0.00093
|
NM_012293.3(PXDN):c.2385G>A (p.Pro795=)
|
rs373265335
|
0.00091
|
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn)
|
rs201763004
|
0.00090
|
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=)
|
rs147749489
|
0.00077
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_012293.3(PXDN):c.3743+9G>A
|
rs184138871
|
0.00075
|
NM_012293.3(PXDN):c.969C>T (p.Ala323=)
|
rs61746899
|
0.00074
|
NM_001453.3(FOXC1):c.597C>G (p.Arg199=)
|
rs529227054
|
0.00070
|
NM_012293.3(PXDN):c.1656C>T (p.Pro552=)
|
rs200276592
|
0.00066
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
NM_001453.3(FOXC1):c.718C>T (p.Leu240=)
|
rs754033600
|
0.00063
|
NM_012293.3(PXDN):c.1347C>T (p.Thr449=)
|
rs184142208
|
0.00063
|
NM_001453.3(FOXC1):c.1173G>T (p.Gly391=)
|
rs773512259
|
0.00053
|
NM_012293.3(PXDN):c.1422C>T (p.Ser474=)
|
rs112778384
|
0.00051
|
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)
|
rs144382074
|
0.00051
|
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)
|
rs534479543
|
0.00050
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
NM_012293.3(PXDN):c.273G>A (p.Leu91=)
|
rs200915485
|
0.00048
|
NM_000325.6(PITX2):c.206-9C>T
|
rs367757020
|
0.00046
|
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)
|
rs75454260
|
0.00046
|
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
NM_012293.3(PXDN):c.921A>G (p.Thr307=)
|
rs117914830
|
0.00043
|
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn)
|
rs142371761
|
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_012293.3(PXDN):c.2097C>T (p.Asn699=)
|
rs369631419
|
0.00036
|
NM_012293.3(PXDN):c.270A>G (p.Thr90=)
|
rs147536472
|
0.00036
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
NM_001368894.2(PAX6):c.978C>T (p.Gly326=)
|
rs115833025
|
0.00035
|
NM_012293.3(PXDN):c.1443C>A (p.Val481=)
|
rs370752629
|
0.00033
|
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=)
|
rs771039137
|
0.00032
|
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)
|
rs201039175
|
0.00031
|
NM_012293.3(PXDN):c.730+16C>T
|
rs373245706
|
0.00031
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg)
|
rs560327746
|
0.00029
|
NM_001453.3(FOXC1):c.1639G>A (p.Val547Ile)
|
rs570658290
|
0.00027
|
NM_012186.3(FOXE3):c.234G>A (p.Ala78=)
|
rs201158701
|
0.00027
|
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val)
|
rs865901577
|
0.00026
|
NM_001453.3(FOXC1):c.843G>T (p.Arg281=)
|
rs1006154109
|
0.00026
|
NM_012186.3(FOXE3):c.426C>T (p.Gly142=)
|
rs1370214494
|
0.00025
|
NM_012186.3(FOXE3):c.831C>T (p.Gly277=)
|
rs527783871
|
0.00025
|
NM_000325.6(PITX2):c.206-8G>C
|
rs373965144
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_001453.3(FOXC1):c.171G>C (p.Pro57=)
|
rs188085399
|
0.00024
|
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln)
|
rs754743917
|
0.00024
|
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met)
|
rs183629867
|
0.00024
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
NM_012186.3(FOXE3):c.405G>A (p.Glu135=)
|
rs574859994
|
0.00021
|
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys)
|
rs151054868
|
0.00021
|
NM_012186.3(FOXE3):c.240C>T (p.Ile80=)
|
rs146608794
|
0.00020
|
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn)
|
rs202086896
|
0.00020
|
NM_001453.3(FOXC1):c.1452C>T (p.His484=)
|
rs749512415
|
0.00019
|
NM_012186.3(FOXE3):c.828C>G (p.Pro276=)
|
rs887265865
|
0.00019
|
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=)
|
rs369851999
|
0.00018
|
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=)
|
rs368271183
|
0.00018
|
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=)
|
rs183970787
|
0.00017
|
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser)
|
rs775345164
|
0.00017
|
NM_001368894.2(PAX6):c.-118T>C
|
rs992201562
|
0.00016
|
NM_001453.3(FOXC1):c.216G>A (p.Gln72=)
|
rs200040370
|
0.00016
|
NM_012186.3(FOXE3):c.849T>C (p.Ala283=)
|
rs911846788
|
0.00016
|
NM_012293.3(PXDN):c.1827C>T (p.Leu609=)
|
rs202108023
|
0.00016
|
NM_012293.3(PXDN):c.165G>A (p.Glu55=)
|
rs781119752
|
0.00015
|
NM_012293.3(PXDN):c.2787G>A (p.Leu929=)
|
rs753095408
|
0.00015
|
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met)
|
rs201077249
|
0.00015
|
NM_012293.3(PXDN):c.612G>A (p.Ala204=)
|
rs748974745
|
0.00015
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)
|
rs545478008
|
0.00014
|
NM_012186.3(FOXE3):c.51T>C (p.Pro17=)
|
rs548368038
|
0.00014
|
NM_012293.3(PXDN):c.1596C>T (p.Ser532=)
|
rs375578544
|
0.00014
|
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp)
|
rs373022614
|
0.00014
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr)
|
rs186563338
|
0.00013
|
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met)
|
rs370226454
|
0.00013
|
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)
|
rs371739601
|
0.00013
|
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala)
|
rs919121619
|
0.00012
|
NM_001453.3(FOXC1):c.279C>T (p.Asn93=)
|
rs141798688
|
0.00012
|
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met)
|
rs772632642
|
0.00012
|
NM_001368894.2(PAX6):c.10+17T>C
|
rs766982377
|
0.00011
|
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=)
|
rs139416026
|
0.00011
|
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)
|
rs78290542
|
0.00011
|
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr)
|
rs535065221
|
0.00011
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001453.3(FOXC1):c.1230C>T (p.Gly410=)
|
rs1176446421
|
0.00009
|
NM_001453.3(FOXC1):c.567G>A (p.Leu189=)
|
rs543542572
|
0.00009
|
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr)
|
rs916755482
|
0.00009
|
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu)
|
rs371048362
|
0.00009
|
NM_001368894.2(PAX6):c.11-12C>G
|
rs766046559
|
0.00008
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu)
|
rs886043447
|
0.00008
|
NM_001453.3(FOXC1):c.252C>T (p.Ile84=)
|
rs751286982
|
0.00008
|
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)
|
rs1030716081
|
0.00008
|
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser)
|
rs1213749118
|
0.00008
|
NM_000325.6(PITX2):c.816G>A (p.Ala272=)
|
rs778779105
|
0.00007
|
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val)
|
rs767729842
|
0.00007
|
NM_001453.3(FOXC1):c.783C>T (p.Asp261=)
|
rs754761427
|
0.00007
|
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg)
|
rs901581290
|
0.00007
|
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr)
|
rs377669670
|
0.00007
|
NM_012186.3(FOXE3):c.882C>G (p.Ala294=)
|
rs946810051
|
0.00007
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser)
|
rs758013827
|
0.00006
|
NM_001453.3(FOXC1):c.351C>T (p.Asp117=)
|
rs1391853754
|
0.00006
|
NM_001453.3(FOXC1):c.9G>T (p.Ala3=)
|
rs779435104
|
0.00006
|
NM_012186.3(FOXE3):c.192G>A (p.Arg64=)
|
rs757496166
|
0.00006
|
NM_012186.3(FOXE3):c.457G>C (p.Asp153His)
|
rs367943249
|
0.00006
|
NM_012186.3(FOXE3):c.813G>A (p.Leu271=)
|
rs1003802007
|
0.00006
|
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu)
|
rs372395551
|
0.00006
|
NM_001368894.2(PAX6):c.438C>T (p.Ser146=)
|
rs146769256
|
0.00005
|
NM_001368894.2(PAX6):c.699A>G (p.Gln233=)
|
rs539046948
|
0.00005
|
NM_001453.3(FOXC1):c.1170C>G (p.Ala390=)
|
rs908957809
|
0.00005
|
NM_001453.3(FOXC1):c.1284G>A (p.Leu428=)
|
rs1201818386
|
0.00005
|
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly)
|
rs756037576
|
0.00005
|
NM_001453.3(FOXC1):c.195G>A (p.Gly65=)
|
rs150084174
|
0.00005
|
NM_012186.3(FOXE3):c.135G>A (p.Ala45=)
|
rs886044273
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_012293.3(PXDN):c.2394G>A (p.Val798=)
|
rs548975446
|
0.00005
|
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)
|
rs995348999
|
0.00005
|
NM_001368894.2(PAX6):c.1074+9G>A
|
rs376883598
|
0.00004
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)
|
rs369346224
|
0.00004
|
NM_001453.3(FOXC1):c.708G>A (p.Pro236=)
|
rs775979008
|
0.00004
|
NM_001453.3(FOXC1):c.915C>T (p.Ser305=)
|
rs570694575
|
0.00004
|
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly)
|
rs768651099
|
0.00004
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly)
|
rs372281087
|
0.00004
|
NM_012186.3(FOXE3):c.537G>C (p.Ala179=)
|
rs544902810
|
0.00004
|
NM_012186.3(FOXE3):c.585C>G (p.Pro195=)
|
rs890514968
|
0.00004
|
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu)
|
rs745950487
|
0.00004
|
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr)
|
rs886379083
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr)
|
rs921860618
|
0.00004
|
NM_012186.3(FOXE3):c.837C>T (p.Gly279=)
|
rs752441939
|
0.00004
|
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser)
|
rs994486517
|
0.00004
|
NM_012293.3(PXDN):c.1329C>T (p.Val443=)
|
rs550694319
|
0.00004
|
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His)
|
rs368890003
|
0.00004
|
NM_012293.3(PXDN):c.1680+6C>T
|
rs930569592
|
0.00004
|
NM_012293.3(PXDN):c.2313C>T (p.Tyr771=)
|
rs370841716
|
0.00004
|
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu)
|
rs748447804
|
0.00004
|
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=)
|
rs368223046
|
0.00004
|
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)
|
rs577701184
|
0.00004
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001368894.2(PAX6):c.276A>G (p.Val92=)
|
rs750195797
|
0.00003
|
NM_001368894.2(PAX6):c.405A>G (p.Ser135=)
|
rs760926425
|
0.00003
|
NM_001368894.2(PAX6):c.537G>C (p.Gly179=)
|
rs374226064
|
0.00003
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
0.00003
|
NM_001368894.2(PAX6):c.959-20G>A
|
rs751109356
|
0.00003
|
NM_001368894.2(PAX6):c.959-7C>T
|
rs750093295
|
0.00003
|
NM_001453.3(FOXC1):c.1032C>A (p.Ile344=)
|
rs539532417
|
0.00003
|
NM_001453.3(FOXC1):c.1074C>T (p.Ser358=)
|
rs747540420
|
0.00003
|
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr)
|
rs281865460
|
0.00003
|
NM_001453.3(FOXC1):c.532G>C (p.Asp178His)
|
rs751970827
|
0.00003
|
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg)
|
rs1277775861
|
0.00003
|
NM_012186.3(FOXE3):c.132G>A (p.Ala44=)
|
rs1417103494
|
0.00003
|
NM_012186.3(FOXE3):c.282G>A (p.Leu94=)
|
rs762854169
|
0.00003
|
NM_012186.3(FOXE3):c.378C>T (p.Asn126=)
|
rs556872254
|
0.00003
|
NM_012186.3(FOXE3):c.492C>T (p.Arg164=)
|
rs747963189
|
0.00003
|
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg)
|
rs1226906213
|
0.00003
|
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg)
|
rs780276474
|
0.00003
|
NM_012186.3(FOXE3):c.777G>A (p.Pro259=)
|
rs1045485277
|
0.00003
|
NM_012293.3(PXDN):c.1018+10G>A
|
rs972175216
|
0.00003
|
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu)
|
rs575642508
|
0.00003
|
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)
|
rs376902965
|
0.00003
|
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=)
|
rs369447790
|
0.00002
|
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser)
|
rs141021880
|
0.00002
|
NM_001368894.2(PAX6):c.717G>A (p.Leu239=)
|
rs766564648
|
0.00002
|
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu)
|
rs759150602
|
0.00002
|
NM_001453.3(FOXC1):c.1017C>T (p.Ser339=)
|
rs770183159
|
0.00002
|
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu)
|
rs1215019381
|
0.00002
|
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=)
|
rs759491792
|
0.00002
|
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser)
|
rs772035500
|
0.00002
|
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg)
|
rs998203463
|
0.00002
|
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)
|
rs908841297
|
0.00002
|
NM_001453.3(FOXC1):c.147C>T (p.His49=)
|
rs1400944385
|
0.00002
|
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser)
|
rs1032706802
|
0.00002
|
NM_001453.3(FOXC1):c.735C>T (p.Ala245=)
|
rs1455631339
|
0.00002
|
NM_001453.3(FOXC1):c.786C>T (p.Ser262=)
|
rs1284573981
|
0.00002
|
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser)
|
rs769224835
|
0.00002
|
NM_001453.3(FOXC1):c.864G>A (p.Ala288=)
|
rs1477621509
|
0.00002
|
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe)
|
rs775681400
|
0.00002
|
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys)
|
rs900562270
|
0.00002
|
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu)
|
rs751816743
|
0.00002
|
NM_012186.3(FOXE3):c.19A>G (p.Met7Val)
|
rs1300297197
|
0.00002
|
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met)
|
rs762006562
|
0.00002
|
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln)
|
rs768674287
|
0.00002
|
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala)
|
rs768612848
|
0.00002
|
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu)
|
rs754614447
|
0.00002
|
NM_012186.3(FOXE3):c.543G>T (p.Gly181=)
|
rs765016567
|
0.00002
|
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val)
|
rs777536289
|
0.00002
|
NM_012186.3(FOXE3):c.570C>T (p.Pro190=)
|
rs1182253342
|
0.00002
|
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter)
|
rs1035206433
|
0.00002
|
NM_012186.3(FOXE3):c.876G>A (p.Pro292=)
|
rs1646890706
|
0.00002
|
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser)
|
rs1037554225
|
0.00002
|
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln)
|
rs1308848565
|
0.00002
|
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)
|
rs769037467
|
0.00002
|
NM_012293.3(PXDN):c.2592C>T (p.Pro864=)
|
rs552146038
|
0.00002
|
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)
|
rs567182921
|
0.00002
|
NM_000325.6(PITX2):c.916G>A (p.Val306Met)
|
rs760790139
|
0.00001
|
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)
|
rs571758306
|
0.00001
|
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=)
|
rs786205467
|
0.00001
|
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)
|
rs749992296
|
0.00001
|
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=)
|
rs1185901527
|
0.00001
|
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=)
|
rs1949682214
|
0.00001
|
NM_001368894.2(PAX6):c.11-10C>G
|
rs762637284
|
0.00001
|
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile)
|
rs1361659182
|
0.00001
|
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu)
|
rs1411880763
|
0.00001
|
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln)
|
rs780115865
|
0.00001
|
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=)
|
rs764134540
|
0.00001
|
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=)
|
rs766842413
|
0.00001
|
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=)
|
rs372956285
|
0.00001
|
NM_001368894.2(PAX6):c.1282A>G (p.Met428Val)
|
rs541260494
|
0.00001
|
NM_001368894.2(PAX6):c.141+1G>A
|
rs1554985714
|
0.00001
|
NM_001368894.2(PAX6):c.184-4G>T
|
rs761362173
|
0.00001
|
NM_001368894.2(PAX6):c.184-9C>G
|
rs764872492
|
0.00001
|
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)
|
rs771974160
|
0.00001
|
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)
|
rs759557055
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.501C>T (p.Thr167=)
|
rs201200280
|
0.00001
|
NM_001368894.2(PAX6):c.525T>A (p.Gly175=)
|
rs1315078444
|
0.00001
|
NM_001368894.2(PAX6):c.561G>A (p.Thr187=)
|
rs771257263
|
0.00001
|
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)
|
rs374396492
|
0.00001
|
NM_001368894.2(PAX6):c.658C>T (p.Leu220=)
|
rs778895282
|
0.00001
|
NM_001368894.2(PAX6):c.702G>A (p.Glu234=)
|
rs755018027
|
0.00001
|
NM_001368894.2(PAX6):c.768A>G (p.Arg256=)
|
rs757591036
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_001453.3(FOXC1):c.1038C>G (p.Pro346=)
|
rs1355905429
|
0.00001
|
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser)
|
rs867806300
|
0.00001
|
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=)
|
rs1011576688
|
0.00001
|
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup)
|
rs1762557230
|
0.00001
|
NM_001453.3(FOXC1):c.1386C>T (p.His462=)
|
rs1413952291
|
0.00001
|
NM_001453.3(FOXC1):c.144G>T (p.Ser48=)
|
rs112885689
|
0.00001
|
NM_001453.3(FOXC1):c.1575G>T (p.Gly525=)
|
rs139877144
|
0.00001
|
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=)
|
rs747055801
|
0.00001
|
NM_001453.3(FOXC1):c.1638C>T (p.Phe546=)
|
rs1327937746
|
0.00001
|
NM_001453.3(FOXC1):c.306C>T (p.Asn102=)
|
rs750797555
|
0.00001
|
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser)
|
rs1311597906
|
0.00001
|
NM_001453.3(FOXC1):c.333C>T (p.Arg111=)
|
rs547414473
|
0.00001
|
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg)
|
rs759264099
|
0.00001
|
NM_001453.3(FOXC1):c.375C>T (p.Ser125=)
|
rs765626020
|
0.00001
|
NM_001453.3(FOXC1):c.37C>G (p.Leu13Val)
|
rs1245309163
|
0.00001
|
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)
|
rs1581373871
|
0.00001
|
NM_001453.3(FOXC1):c.498C>T (p.Ser166=)
|
rs1199147210
|
0.00001
|
NM_001453.3(FOXC1):c.570C>T (p.His190=)
|
rs1199142990
|
0.00001
|
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe)
|
rs1762529243
|
0.00001
|
NM_001453.3(FOXC1):c.600G>C (p.Gln200His)
|
rs549370363
|
0.00001
|
NM_001453.3(FOXC1):c.605C>A (p.Pro202Gln)
|
rs1288507437
|
0.00001
|
NM_001453.3(FOXC1):c.646C>A (p.Pro216Thr)
|
rs1419864390
|
0.00001
|
NM_001453.3(FOXC1):c.660C>T (p.Pro220=)
|
rs1438325732
|
0.00001
|
NM_001453.3(FOXC1):c.673G>A (p.Asp225Asn)
|
rs747618420
|
0.00001
|
NM_001453.3(FOXC1):c.695C>T (p.Thr232Met)
|
rs1762534255
|
0.00001
|
NM_001453.3(FOXC1):c.746G>T (p.Gly249Val)
|
rs936269544
|
0.00001
|
NM_001453.3(FOXC1):c.836C>T (p.Ser279Leu)
|
rs1255472143
|
0.00001
|
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser)
|
rs1331057949
|
0.00001
|
NM_001453.3(FOXC1):c.986G>C (p.Ser329Thr)
|
rs748832697
|
0.00001
|
NM_012186.3(FOXE3):c.114G>A (p.Gly38=)
|
rs1305763469
|
0.00001
|
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg)
|
rs958293767
|
0.00001
|
NM_012186.3(FOXE3):c.171C>A (p.Pro57=)
|
rs1303056091
|
0.00001
|
NM_012186.3(FOXE3):c.181del (p.Arg61fs)
|
rs1646883385
|
0.00001
|
NM_012186.3(FOXE3):c.183G>C (p.Arg61=)
|
rs1646883402
|
0.00001
|
NM_012186.3(FOXE3):c.258C>T (p.His86=)
|
rs1225853707
|
0.00001
|
NM_012186.3(FOXE3):c.324C>T (p.Tyr108=)
|
rs370268389
|
0.00001
|
NM_012186.3(FOXE3):c.343_347del (p.Trp115fs)
|
rs958241794
|
0.00001
|
NM_012186.3(FOXE3):c.411C>A (p.Gly137=)
|
rs536267128
|
0.00001
|
NM_012186.3(FOXE3):c.420C>T (p.Gly140=)
|
rs1352061807
|
0.00001
|
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys)
|
rs747148416
|
0.00001
|
NM_012186.3(FOXE3):c.447C>G (p.Pro149=)
|
rs1344716602
|
0.00001
|
NM_012186.3(FOXE3):c.489C>T (p.Arg163=)
|
rs754808758
|
0.00001
|
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro)
|
rs1401137576
|
0.00001
|
NM_012186.3(FOXE3):c.579C>G (p.Pro193=)
|
rs1174698590
|
0.00001
|
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln)
|
rs1646887555
|
0.00001
|
NM_012186.3(FOXE3):c.624G>C (p.Pro208=)
|
rs1400982636
|
0.00001
|
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg)
|
rs1304716566
|
0.00001
|
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val)
|
rs1646888269
|
0.00001
|
NM_012186.3(FOXE3):c.711G>T (p.Pro237=)
|
rs1177501502
|
0.00001
|
NM_012186.3(FOXE3):c.741C>T (p.Ala247=)
|
rs1369565616
|
0.00001
|
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr)
|
rs911732099
|
0.00001
|
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser)
|
rs1170907926
|
0.00001
|
NM_012186.3(FOXE3):c.804C>T (p.Arg268=)
|
rs1332275509
|
0.00001
|
NM_012186.3(FOXE3):c.819G>A (p.Ala273=)
|
rs1035152511
|
0.00001
|
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp)
|
rs1189285117
|
0.00001
|
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly)
|
rs956520813
|
0.00001
|
NM_012186.3(FOXE3):c.854C>A (p.Pro285His)
|
rs1184373895
|
0.00001
|
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu)
|
rs1570406106
|
0.00001
|
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr)
|
rs1085307504
|
0.00001
|
NM_012186.3(FOXE3):c.930C>T (p.Gly310=)
|
rs963646314
|
0.00001
|
NM_012293.3(PXDN):c.1650C>T (p.Gly550=)
|
rs753678349
|
0.00001
|
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)
|
rs755097189
|
0.00001
|
NM_012293.3(PXDN):c.1885G>A (p.Val629Met)
|
rs770134392
|
0.00001
|
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln)
|
rs748238090
|
0.00001
|
NM_012293.3(PXDN):c.2369A>T (p.His790Leu)
|
rs1682956712
|
0.00001
|
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe)
|
rs757055936
|
0.00001
|
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=)
|
rs544242132
|
0.00001
|
NM_012293.3(PXDN):c.3768G>C (p.Val1256=)
|
rs746169929
|
0.00001
|
NM_012293.3(PXDN):c.639G>A (p.Ser213=)
|
rs778985833
|
0.00001
|
NM_012293.3(PXDN):c.750C>T (p.Ser250=)
|
rs762530703
|
0.00001
|
NC_000001.10:g.(?_47716808)_(47882947_?)dup
|
|
|
NC_000001.11:g.47416279_47416517del
|
rs2124040836
|
|
NC_000002.11:g.(?_1748008)_(1748227_?)dup
|
|
|
NC_000004.11:g.(?_111539261)_(111543636_?)del
|
|
|
NC_000004.11:g.(?_111539281)_(111554154_?)del
|
|
|
NC_000004.12:g.(?_110618105)_(110633018_?)del
|
|
|
NC_000004.12:g.(?_110618181)_(110621345_?)del
|
|
|
NC_000006.11:g.(?_1609367)_(1610939_?)del
|
|
|
NC_000006.11:g.(?_1610666)_(1612017_?)del
|
|
|
NC_000006.11:g.(?_1610681)_(1612342_?)del
|
|
|
NC_000006.11:g.(?_1610681)_(1612342_?)dup
|
|
|
NC_000006.12:g.(?_1610426)_(1612841_?)del
|
|
|
NC_000011.10:g.(?_31664397)_(31794829_?)del
|
|
|
NC_000011.10:g.(?_31789914)_(31790880_?)del
|
|
|
NC_000011.10:g.(?_31789914)_(31794829_?)del
|
|
|
NC_000011.10:g.(?_31789934)_(31806411_?)del
|
|
|
NC_000011.10:g.(?_31794610)_(31794829_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(31824402_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(31832374_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(32456911_?)del
|
|
|
NC_000011.9:g.(?_31625295)_(31822424_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31812428_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31816356_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31816377_?)del
|
|
|
NC_000011.9:g.(?_31814966)_(31816356_?)del
|
|
|
NC_000011.9:g.(?_31815560)_(31824402_?)del
|
|
|
NC_000011.9:g.(?_31822233)_(31823148_?)del
|
|
|
NC_000011.9:g.(?_31824326)_(31832375_?)del
|
|
|
NM_000280.4(PAX6):c.358delG
|
rs886042838
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
|
|
|
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
|
|
|
NM_000325.6(PITX2):c.264del (p.Lys89fs)
|
rs1729007624
|
|
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp)
|
rs2110435742
|
|
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
|
|
|
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter)
|
rs1051887
|
|
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
|
|
|
NM_000325.6(PITX2):c.361dup (p.Thr121fs)
|
rs1553922891
|
|
NM_000325.6(PITX2):c.373del (p.Ile125fs)
|
rs1729001104
|
|
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr)
|
rs2110435645
|
|
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
|
|
|
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter)
|
rs1729000976
|
|
NM_000325.6(PITX2):c.411+2T>G
|
rs1578450728
|
|
NM_000325.6(PITX2):c.412-11A>G
|
rs1198152064
|
|
NM_000325.6(PITX2):c.412-2A>G
|
rs1553922583
|
|
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)
|
rs772800095
|
|
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
|
|
|
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp)
|
rs1057519485
|
|
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)
|
rs104893859
|
|
NM_000325.6(PITX2):c.448_449del (p.Arg150fs)
|
rs2110432091
|
|
NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
|
|
|
NM_000325.6(PITX2):c.489C>T (p.Phe163=)
|
|
|
NM_000325.6(PITX2):c.515del (p.Gln172fs)
|
|
|
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
|
|
|
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)
|
rs951710742
|
|
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer)
|
rs1728873590
|
|
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)
|
rs1578446544
|
|
NM_000325.6(PITX2):c.588A>C (p.Leu196=)
|
|
|
NM_000325.6(PITX2):c.592A>T (p.Thr198Ser)
|
rs2110431786
|
|
NM_000325.6(PITX2):c.633C>T (p.Pro211=)
|
|
|
NM_000325.6(PITX2):c.634C>T (p.Leu212=)
|
|
|
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
|
|
|
NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer)
|
rs2110431524
|
|
NM_000325.6(PITX2):c.927G>A (p.Pro309=)
|
|
|
NM_001368894.2(PAX6):c.-118_-117del
|
rs1554986858
|
|
NM_001368894.2(PAX6):c.-120_-118dup
|
|
|
NM_001368894.2(PAX6):c.-128-2del
|
rs1131692282
|
|
NM_001368894.2(PAX6):c.-129+2T>A
|
rs878852979
|
|
NM_001368894.2(PAX6):c.-52+1del
|
rs1955943115
|
|
NM_001368894.2(PAX6):c.10+11C>A
|
|
|
NM_001368894.2(PAX6):c.10+13G>A
|
|
|
NM_001368894.2(PAX6):c.10+1635_70del
|
|
|
NM_001368894.2(PAX6):c.10+1G>A
|
|
|
NM_001368894.2(PAX6):c.10+5G>T
|
|
|
NM_001368894.2(PAX6):c.10+7G>A
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.10+7G>T
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
|
|
|
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001368894.2(PAX6):c.1009del (p.Thr337fs)
|
rs1950537152
|
|
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
|
|
|
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
|
|
|
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)
|
rs1950522383
|
|
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
|
|
|
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs)
|
rs1565245835
|
|
NM_001368894.2(PAX6):c.102del (p.His34fs)
|
|
|
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
|
|
|
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)
|
|
|
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
|
|
|
NM_001368894.2(PAX6):c.1061del (p.Asn354fs)
|
rs2134574071
|
|
NM_001368894.2(PAX6):c.1074+16G>A
|
|
|
NM_001368894.2(PAX6):c.1074+1G>C
|
rs1950507886
|
|
NM_001368894.2(PAX6):c.1074+3_1074+6del
|
rs2134572801
|
|
NM_001368894.2(PAX6):c.1074+4A>G
|
|
|
NM_001368894.2(PAX6):c.1074+6T>C
|
|
|
NM_001368894.2(PAX6):c.1074+8C>T
|
|
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
NM_001368894.2(PAX6):c.1075-3C>A
|
|
|
NM_001368894.2(PAX6):c.1075-8C>T
|
|
|
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
|
|
|
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)
|
rs1346292898
|
|
NM_001368894.2(PAX6):c.1086del (p.Ser363fs)
|
rs1592369895
|
|
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)
|
rs1237278944
|
|
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
|
|
|
NM_001368894.2(PAX6):c.109del (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.11-20T>C
|
|
|
NM_001368894.2(PAX6):c.11-24_11-20dup
|
rs2135156050
|
|
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=)
|
rs1328757289
|
|
NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs)
|
rs1554982609
|
|
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)
|
|
|
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
|
|
|
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)
|
rs397514640
|
|
NM_001368894.2(PAX6):c.112del (p.Arg38fs)
|
rs1592563428
|
|
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)
|
rs1411880763
|
|
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
|
|
|
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
|
|
|
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
|
|
|
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
|
|
|
NM_001368894.2(PAX6):c.114del (p.Pro39fs)
|
|
|
NM_001368894.2(PAX6):c.114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)
|
|
|
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)
|
|
|
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)
|
|
|
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)
|
rs1592563240
|
|
NM_001368894.2(PAX6):c.1166dup (p.His390fs)
|
rs756801119
|
|
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
|
|
|
NM_001368894.2(PAX6):c.117G>C (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.117G>T (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.117del (p.Cys40fs)
|
|
|
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)
|
|
|
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
|
|
|
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)
|
rs1230504203
|
|
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)
|
rs1329112134
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
NM_001368894.2(PAX6):c.1225+5G>A
|
rs1592366898
|
|
NM_001368894.2(PAX6):c.1225+5G>T
|
|
|
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)
|
rs1131692318
|
|
NM_001368894.2(PAX6):c.1226-13C>T
|
rs2134386969
|
|
NM_001368894.2(PAX6):c.1226-4C>G
|
rs11031477
|
|
NM_001368894.2(PAX6):c.1226-7C>T
|
|
|
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=)
|
rs776244636
|
|
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
|
|
|
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)
|
rs1554982299
|
|
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
|
|
|
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
|
|
|
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
|
rs1592562836
|
|
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
|
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)
|
rs1554985716
|
|
NM_001368894.2(PAX6):c.141+19C>T
|
|
|
NM_001368894.2(PAX6):c.141+3G>A
|
|
|
NM_001368894.2(PAX6):c.141+3G>C
|
rs369243018
|
|
NM_001368894.2(PAX6):c.141+9C>G
|
rs1194088876
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001368894.2(PAX6):c.184-3C>T
|
rs2135101861
|
|
NM_001368894.2(PAX6):c.184-5T>C
|
|
|
NM_001368894.2(PAX6):c.184-5T>G
|
rs1131692292
|
|
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
|
|
|
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
|
|
|
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
|
|
|
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
|
|
|
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)
|
rs1131692284
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)
|
rs760490431
|
|
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
|
|
|
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs)
|
rs1953961273
|
|
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
|
|
|
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu)
|
rs1953954636
|
|
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser)
|
rs2135097990
|
|
NM_001368894.2(PAX6):c.255C>T (p.Ile85=)
|
|
|
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)
|
|
|
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
|
|
|
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)
|
rs2135097306
|
|
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys)
|
rs1565239425
|
|
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
|
|
|
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
|
|
|
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu)
|
rs886042622
|
|
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
|
|
|
NM_001368894.2(PAX6):c.27dup (p.Gln10fs)
|
|
|
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
|
|
|
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter)
|
rs1954553083
|
|
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala)
|
rs2135095172
|
|
NM_001368894.2(PAX6):c.306C>G (p.Ala102=)
|
rs1160160301
|
|
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)
|
rs1131692297
|
|
NM_001368894.2(PAX6):c.318G>A (p.Arg106=)
|
rs1953919512
|
|
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)
|
|
|
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu)
|
rs2135091755
|
|
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
|
|
|
NM_001368894.2(PAX6):c.339T>C (p.Ala113=)
|
|
|
NM_001368894.2(PAX6):c.33C>T (p.Leu11=)
|
|
|
NM_001368894.2(PAX6):c.349C>A (p.Arg117=)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)
|
rs1565246499
|
|
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
|
|
|
NM_001368894.2(PAX6):c.358_359insA (p.Leu120fs)
|
rs1953896100
|
|
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)
|
|
|
NM_001368894.2(PAX6):c.35del (p.Gly12fs)
|
rs1592564672
|
|
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
|
|
|
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
|
rs1554985305
|
|
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
|
|
|
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
|
|
|
NM_001368894.2(PAX6):c.373del (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373dup (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
|
|
|
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs)
|
rs2135088191
|
|
NM_001368894.2(PAX6):c.399+10_399+11del
|
rs2135085957
|
|
NM_001368894.2(PAX6):c.399+18A>G
|
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+1G>C
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+2T>C
|
rs2135086958
|
|
NM_001368894.2(PAX6):c.399+3A>T
|
rs2135086830
|
|
NM_001368894.2(PAX6):c.399+4A>T
|
rs1554985282
|
|
NM_001368894.2(PAX6):c.399+9A>G
|
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)
|
rs1554986754
|
|
NM_001368894.2(PAX6):c.400-15_400-5del
|
rs758179195
|
|
NM_001368894.2(PAX6):c.400-18T>G
|
|
|
NM_001368894.2(PAX6):c.400-2A>T
|
rs1592532580
|
|
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)
|
rs1554985100
|
|
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)
|
|
|
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
|
|
|
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
|
rs1231578758
|
|
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs)
|
rs1592532084
|
|
NM_001368894.2(PAX6):c.417del (p.Val140fs)
|
rs2135051167
|
|
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)
|
rs121907919
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
|
|
|
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)
|
rs1131692304
|
|
NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)
|
|
|
NM_001368894.2(PAX6):c.456C>T (p.Gly152=)
|
rs1304237286
|
|
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
|
|
|
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
|
|
|
NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)
|
|
|
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)
|
rs201983312
|
|
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
|
|
|
NM_001368894.2(PAX6):c.47del (p.Val16fs)
|
|
|
NM_001368894.2(PAX6):c.483del (p.Met162fs)
|
rs2135047165
|
|
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
|
|
|
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)
|
rs1299258202
|
|
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter)
|
rs1953513506
|
|
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)
|
|
|
NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del)
|
rs1592564313
|
|
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)
|
|
|
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
|
rs1554985028
|
|
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
|
|
|
NM_001368894.2(PAX6):c.512del (p.Gly171fs)
|
rs1554985024
|
|
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
|
|
|
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)
|
rs1592530260
|
|
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)
|
rs1953478890
|
|
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)
|
rs1057520755
|
|
NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
|
|
|
NM_001368894.2(PAX6):c.532_536del (p.Pro178fs)
|
rs1953470546
|
|
NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)
|
|
|
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)
|
rs954552997
|
|
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
|
|
|
NM_001368894.2(PAX6):c.537del (p.Thr180fs)
|
rs1554984996
|
|
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)
|
rs1592529768
|
|
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)
|
rs1131692308
|
|
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
|
rs1131692308
|
|
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
|
|
|
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr)
|
rs1049560370
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.560del (p.Thr187fs)
|
|
|
NM_001368894.2(PAX6):c.565+17C>T
|
|
|
NM_001368894.2(PAX6):c.566-1G>T
|
|
|
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)
|
rs2135152943
|
|
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
|
|
|
NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs)
|
rs1554983577
|
|
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
|
rs1554983571
|
|
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
|
|
|
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
|
|
|
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)
|
rs541894561
|
|
NM_001368894.2(PAX6):c.591G>A (p.Gly197=)
|
|
|
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
|
|
|
NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)
|
|
|
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
|
|
|
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
|
|
|
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
|
|
|
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)
|
|
|
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)
|
rs1954534591
|
|
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
|
|
|
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
|
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
|
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)
|
rs1954533614
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
|
|
|
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)
|
rs1592433640
|
|
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)
|
|
|
NM_001368894.2(PAX6):c.690del (p.Phe231fs)
|
rs2134656843
|
|
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)
|
rs1131692309
|
|
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)
|
rs2134655427
|
|
NM_001368894.2(PAX6):c.714C>T (p.Ala238=)
|
rs1554983496
|
|
NM_001368894.2(PAX6):c.720del (p.Glu242fs)
|
rs2134654635
|
|
NM_001368894.2(PAX6):c.724+14del
|
rs772158967
|
|
NM_001368894.2(PAX6):c.724+16A>G
|
|
|
NM_001368894.2(PAX6):c.724+1G>A
|
|
|
NM_001368894.2(PAX6):c.724+20T>C
|
|
|
NM_001368894.2(PAX6):c.724+3G>A
|
|
|
NM_001368894.2(PAX6):c.724+7G>C
|
|
|
NM_001368894.2(PAX6):c.724+8_724+9del
|
|
|
NM_001368894.2(PAX6):c.725-14A>G
|
|
|
NM_001368894.2(PAX6):c.725-18A>G
|
rs2134615673
|
|
NM_001368894.2(PAX6):c.725-19A>C
|
rs369866279
|
|
NM_001368894.2(PAX6):c.725-8T>A
|
|
|
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
|
|
|
NM_001368894.2(PAX6):c.741T>C (p.His247=)
|
|
|
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
|
rs121907917
|
|
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)
|
rs2134611494
|
|
NM_001368894.2(PAX6):c.762A>G (p.Arg254=)
|
|
|
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.787_807+102del
|
|
|
NM_001368894.2(PAX6):c.78del (p.Gln27fs)
|
rs1131692286
|
|
NM_001368894.2(PAX6):c.790_806del (p.Pro264fs)
|
rs2134609949
|
|
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
|
|
|
NM_001368894.2(PAX6):c.802_807+9del
|
rs2134609369
|
|
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg)
|
rs2134610066
|
|
NM_001368894.2(PAX6):c.803dup (p.Gln269fs)
|
|
|
NM_001368894.2(PAX6):c.807+14G>A
|
rs1404270061
|
|
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
|
|
|
NM_001368894.2(PAX6):c.808-13A>G
|
|
|
NM_001368894.2(PAX6):c.808-15C>T
|
|
|
NM_001368894.2(PAX6):c.808-18G>A
|
|
|
NM_001368894.2(PAX6):c.808-19T>C
|
|
|
NM_001368894.2(PAX6):c.808-19del
|
|
|
NM_001368894.2(PAX6):c.808-1G>C
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu)
|
rs779126789
|
|
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)
|
rs1592416453
|
|
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
|
|
|
NM_001368894.2(PAX6):c.817dup (p.Ser273fs)
|
rs1592416305
|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
|
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)
|
rs1950629763
|
|
NM_001368894.2(PAX6):c.829del (p.Ala277fs)
|
rs2134595824
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
|
rs1554983229
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
|
|
|
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
|
|
|
NM_001368894.2(PAX6):c.893dup (p.His298fs)
|
|
|
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
|
|
|
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
|
|
|
NM_001368894.2(PAX6):c.939dup (p.Pro314fs)
|
|
|
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)
|
rs1326972158
|
|
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
|
|
|
NM_001368894.2(PAX6):c.958+18T>C
|
|
|
NM_001368894.2(PAX6):c.958+18T>G
|
|
|
NM_001368894.2(PAX6):c.958+1G>A
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.959-3C>G
|
rs1057523821
|
|
NM_001368894.2(PAX6):c.959-3_959-2del
|
|
|
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)
|
rs1954518916
|
|
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
|
|
|
NM_001368894.2(PAX6):c.981C>T (p.Ser327=)
|
rs1042417987
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|
NM_001368894.2(PAX6):c.992dup (p.Thr332fs)
|
|
|
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
|
|
|
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)
|
|
|
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
|
|
|
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
|
|
|
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)
|
|
|
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
|
|
|
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
|
|
|
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
|
|
|
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)
|
|
|
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)
|
|
|
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)
|
|
|
NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser)
|
rs888646491
|
|
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)
|
|
|
NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)
|
|
|
NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)
|
|
|
NM_001453.3(FOXC1):c.104del (p.Gly35fs)
|
|
|
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)
|
|
|
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
|
|
|
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg)
|
rs897755884
|
|
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)
|
|
|
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)
|
|
|
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
|
|
|
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
|
|
|
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)
|
|
|
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
|
|
|
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
|
|
|
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=)
|
rs1364012338
|
|
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)
|
|
|
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)
|
|
|
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)
|
|
|
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)
|
|
|
NM_001453.3(FOXC1):c.1113G>T (p.Ala371=)
|
rs1762548215
|
|
NM_001453.3(FOXC1):c.1124GCG[3] (p.Gly378_Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[8] (p.Gly379_Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)
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|
NM_001453.3(FOXC1):c.1137C>T (p.Gly379=)
|
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|
NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)
|
|
|
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs)
|
rs1554101058
|
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NM_001453.3(FOXC1):c.1145G>A (p.Gly382Glu)
|
|
|
NM_001453.3(FOXC1):c.1148C>G (p.Ala383Gly)
|
|
|
NM_001453.3(FOXC1):c.1148_1156del (p.Ala383_Gly385del)
|
rs975290027
|
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NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)
|
|
|
NM_001453.3(FOXC1):c.1155_1163del (p.386GAG[1])
|
|
|
NM_001453.3(FOXC1):c.1157G>C (p.Gly386Ala)
|
rs1411477778
|
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NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)
|
|
|
NM_001453.3(FOXC1):c.1159G>C (p.Ala387Pro)
|
|
|
NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)
|
|
|
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3])
|
rs1462344492
|
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NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)
|
|
|
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)
|
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|
NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)
|
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|
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
|
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|
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
|
|
|
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)
|
|
|
NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)
|
|
|
NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)
|
|
|
NM_001453.3(FOXC1):c.1231C>T (p.His411Tyr)
|
rs2113114171
|
|
NM_001453.3(FOXC1):c.1231_1254del (p.His411_Gly418del)
|
|
|
NM_001453.3(FOXC1):c.1235T>G (p.Leu412Trp)
|
|
|
NM_001453.3(FOXC1):c.1245G>C (p.Ala415=)
|
|
|
NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)
|
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|
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val)
|
rs1056318557
|
|
NM_001453.3(FOXC1):c.1262G>A (p.Gly421Asp)
|
|
|
NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)
|
|
|
NM_001453.3(FOXC1):c.1288G>A (p.Asp430Asn)
|
rs2113114322
|
|
NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)
|
|
|
NM_001453.3(FOXC1):c.1299G>A (p.Leu433=)
|
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|
NM_001453.3(FOXC1):c.129C>T (p.Pro43=)
|
|
|
NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)
|
|
|
NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)
|
|
|
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del)
|
rs1208223684
|
|
NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)
|
|
|
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)
|
|
|
NM_001453.3(FOXC1):c.1336C>G (p.His446Asp)
|
rs2113114444
|
|
NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)
|
|
|
NM_001453.3(FOXC1):c.1338CGG[10] (p.Gly455_Gly456dup)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)
|
|
|
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla)
|
rs1203559520
|
|
NM_001453.3(FOXC1):c.135dup (p.Val46fs)
|
|
|
NM_001453.3(FOXC1):c.1362G>C (p.Gly454=)
|
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|
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)
|
|
|
NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)
|
|
|
NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)
|
|
|
NM_001453.3(FOXC1):c.1399C>G (p.Gln467Glu)
|
|
|
NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter)
|
rs1297907614
|
|
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)
|
rs372857241
|
|
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
|
|
|
NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)
|
rs1408057194
|
|
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
|
|
|
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)
|
|
|
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.1464GGC[8] (p.Ala495_Gly496insAlaAla)
|
|
|
NM_001453.3(FOXC1):c.1482_1484dup (p.Ala495_Gly496insAla)
|
|
|
NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)
|
|
|
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)
|
|
|
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)
|
|
|
NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)
|
|
|
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)
|
|
|
NM_001453.3(FOXC1):c.155A>G (p.His52Arg)
|
|
|
NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)
|
|
|
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs)
|
rs1762565496
|
|
NM_001453.3(FOXC1):c.159C>G (p.Ala53=)
|
|
|
NM_001453.3(FOXC1):c.159C>T (p.Ala53=)
|
rs374448293
|
|
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser)
|
rs1481638796
|
|
NM_001453.3(FOXC1):c.1612T>C (p.Ser538Pro)
|
|
|
NM_001453.3(FOXC1):c.1631G>A (p.Gly544Glu)
|
|
|
NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)
|
|
|
NM_001453.3(FOXC1):c.173del (p.Gly58fs)
|
|
|
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)
|
|
|
NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)
|
|
|
NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)
|
|
|
NM_001453.3(FOXC1):c.185G>A (p.Arg62His)
|
|
|
NM_001453.3(FOXC1):c.18C>G (p.Ser6=)
|
rs1363320651
|
|
NM_001453.3(FOXC1):c.18C>T (p.Ser6=)
|
|
|
NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)
|
|
|
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)
|
|
|
NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)
|
|
|
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala)
|
rs1762519905
|
|
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
|
|
|
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
|
|
|
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
|
|
|
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)
|
rs1554100945
|
|
NM_001453.3(FOXC1):c.244dup (p.Ser82fs)
|
rs2113111289
|
|
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)
|
|
|
NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)
|
|
|
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)
|
rs886039568
|
|
NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)
|
rs2113111322
|
|
NM_001453.3(FOXC1):c.261C>T (p.Ile87=)
|
|
|
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro)
|
rs1762520834
|
|
NM_001453.3(FOXC1):c.264C>T (p.Thr88=)
|
|
|
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
|
|
|
NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro)
|
rs2113111355
|
|
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)
|
|
|
NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)
|
|
|
NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)
|
|
|
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)
|
|
|
NM_001453.3(FOXC1):c.301_331del (p.Leu101fs)
|
rs1762521548
|
|
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)
|
|
|
NM_001453.3(FOXC1):c.309C>T (p.Gly103=)
|
|
|
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)
|
|
|
NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)
|
|
|
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)
|
rs1057519475
|
|
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)
|
|
|
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile)
|
rs748064350
|
|
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)
|
|
|
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)
|
rs1581373749
|
|
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
|
|
|
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)
|
rs121909339
|
|
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter)
|
rs1762522833
|
|
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
|
|
|
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys)
|
rs1762523183
|
|
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)
|
|
|
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)
|
|
|
NM_001453.3(FOXC1):c.380G>A (p.Arg127His)
|
rs1085307884
|
|
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu)
|
rs1085307884
|
|
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)
|
|
|
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)
|
rs121909338
|
|
NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)
|
|
|
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)
|
rs104893957
|
|
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
|
|
|
NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys)
|
rs562467758
|
|
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
|
|
|
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
|
|
|
NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter)
|
rs2230096
|
|
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
|
|
|
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
|
|
|
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
|
|
|
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)
|
|
|
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
|
|
|
NM_001453.3(FOXC1):c.451dup (p.Tyr151fs)
|
rs1762525473
|
|
NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)
|
|
|
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)
|
|
|
NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)
|
|
|
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del)
|
rs2113111795
|
|
NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
|
|
|
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
|
|
|
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
|
|
|
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)
|
rs1183655796
|
|
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
|
|
|
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)
|
rs1581373890
|
|
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln)
|
rs2113111855
|
|
NM_001453.3(FOXC1):c.51del (p.Tyr18fs)
|
rs2113110720
|
|
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
|
|
|
NM_001453.3(FOXC1):c.534C>T (p.Asp178=)
|
rs755160620
|
|
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly)
|
rs752984586
|
|
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
|
|
|
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)
|
|
|
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
|
|
|
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del)
|
rs774823663
|
|
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)
|
|
|
NM_001453.3(FOXC1):c.553G>C (p.Glu185Gln)
|
|
|
NM_001453.3(FOXC1):c.556A>G (p.Lys186Glu)
|
|
|
NM_001453.3(FOXC1):c.556_558del (p.Lys186del)
|
rs1486212361
|
|
NM_001453.3(FOXC1):c.559G>A (p.Asp187Asn)
|
|
|
NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)
|
|
|
NM_001453.3(FOXC1):c.564G>A (p.Arg188=)
|
|
|
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln)
|
rs1227876001
|
|
NM_001453.3(FOXC1):c.573C>T (p.Leu191=)
|
rs545282380
|
|
NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)
|
|
|
NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)
|
|
|
NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)
|
|
|
NM_001453.3(FOXC1):c.591C>T (p.Pro197=)
|
rs761021950
|
|
NM_001453.3(FOXC1):c.602C>A (p.Pro201His)
|
rs1762531102
|
|
NM_001453.3(FOXC1):c.603_614del (p.Pro203_Pro206del)
|
rs1762531002
|
|
NM_001453.3(FOXC1):c.608C>T (p.Pro203Leu)
|
|
|
NM_001453.3(FOXC1):c.609_614del (p.Ala204_Pro205del)
|
|
|
NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)
|
|
|
NM_001453.3(FOXC1):c.617C>G (p.Pro206Arg)
|
rs1245295588
|
|
NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys)
|
rs932770511
|
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NM_001453.3(FOXC1):c.623A>G (p.Gln208Arg)
|
|
|
NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)
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NM_001453.3(FOXC1):c.639G>T (p.Ala213=)
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NM_001453.3(FOXC1):c.642C>A (p.Pro214=)
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NM_001453.3(FOXC1):c.647C>A (p.Pro216Gln)
|
rs1762532606
|
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NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)
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NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)
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NM_001453.3(FOXC1):c.684C>A (p.Thr228=)
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NM_001453.3(FOXC1):c.693T>C (p.Gly231=)
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NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter)
|
rs2113112422
|
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NM_001453.3(FOXC1):c.712dup (p.Gln238fs)
|
rs1762534894
|
|
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
|
rs1057519480
|
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NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
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NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)
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NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)
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NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)
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NM_001453.3(FOXC1):c.735_758del (p.Leu246_Ala253del)
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NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)
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NM_001453.3(FOXC1):c.736C>T (p.Leu246=)
|
rs1282700439
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NM_001453.3(FOXC1):c.736_759del (p.Leu246_Ala253del)
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NM_001453.3(FOXC1):c.740_754del (p.Gly247_Ala251del)
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NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)
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NM_001453.3(FOXC1):c.750C>G (p.Ser250Arg)
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NM_001453.3(FOXC1):c.751G>A (p.Ala251Thr)
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NM_001453.3(FOXC1):c.752_759del (p.Ala251fs)
|
rs1762536800
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NM_001453.3(FOXC1):c.753C>T (p.Ala251=)
|
rs1554100998
|
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NM_001453.3(FOXC1):c.754G>A (p.Ala252Thr)
|
rs2113112550
|
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NM_001453.3(FOXC1):c.755C>T (p.Ala252Val)
|
rs1259243589
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NM_001453.3(FOXC1):c.756C>G (p.Ala252=)
|
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NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
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NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
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NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter)
|
rs1554101000
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NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)
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NM_001453.3(FOXC1):c.782A>G (p.Asp261Gly)
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NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del)
|
rs761199025
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NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup)
|
rs761199025
|
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NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)
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NM_001453.3(FOXC1):c.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)
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NM_001453.3(FOXC1):c.796dup (p.Ser266fs)
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NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His)
|
rs2113112684
|
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NM_001453.3(FOXC1):c.804C>G (p.Ser268=)
|
rs1040137792
|
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NM_001453.3(FOXC1):c.807C>T (p.Ser269=)
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NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
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NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
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NM_001453.3(FOXC1):c.819C>A (p.Pro273=)
|
rs931714808
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NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)
|
rs2113110795
|
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NM_001453.3(FOXC1):c.821dup (p.Ser276fs)
|
rs2113112720
|
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NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
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NM_001453.3(FOXC1):c.846G>A (p.Pro282=)
|
rs1261991191
|
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NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
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NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr)
|
rs775681400
|
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NM_001453.3(FOXC1):c.873G>A (p.Ala291=)
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NM_001453.3(FOXC1):c.888G>T (p.Ala296=)
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NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
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NM_001453.3(FOXC1):c.906G>T (p.Pro302=)
|
rs1262103111
|
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NM_001453.3(FOXC1):c.90C>G (p.Ala30=)
|
rs1333340503
|
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NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)
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NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)
|
rs774848608
|
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NM_001453.3(FOXC1):c.927C>A (p.Ser309Arg)
|
rs1762541775
|
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NM_001453.3(FOXC1):c.930G>A (p.Val310=)
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NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
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NM_001453.3(FOXC1):c.936C>T (p.Asn312=)
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NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
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NM_001453.3(FOXC1):c.957del (p.Ser320fs)
|
rs1241813534
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NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
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NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
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NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)
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NM_001453.3(FOXC1):c.975C>T (p.Ala325=)
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NM_001453.3(FOXC1):c.976G>T (p.Ala326Ser)
|
|
|
NM_001453.3(FOXC1):c.979G>A (p.Glu327Lys)
|
rs2113113220
|
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NM_001453.3(FOXC1):c.991G>A (p.Gly331Ser)
|
rs1242365822
|
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NM_001453.3(FOXC1):c.991G>C (p.Gly331Arg)
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NM_001453.3(FOXC1):c.993C>T (p.Gly331=)
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NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
|
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NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
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NM_012186.3(FOXE3):c.105C>T (p.Ala35=)
|
rs1646882637
|
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NM_012186.3(FOXE3):c.115C>A (p.Arg39=)
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NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala)
|
rs886042841
|
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NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)
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NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
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NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)
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NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del)
|
rs1415958869
|
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NM_012186.3(FOXE3):c.138T>C (p.Ala46=)
|
rs1031196506
|
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NM_012186.3(FOXE3):c.144C>G (p.Arg48=)
|
rs1646883029
|
|
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
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NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)
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NM_012186.3(FOXE3):c.150G>A (p.Glu50=)
|
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NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser)
|
rs1366587048
|
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NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
|
|
|
NM_012186.3(FOXE3):c.165C>G (p.Pro55=)
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NM_012186.3(FOXE3):c.167C>T (p.Ala56Val)
|
rs2124041820
|
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NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)
|
|
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NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)
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NM_012186.3(FOXE3):c.177G>C (p.Pro59=)
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NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp)
|
rs1646883301
|
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NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)
|
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NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup)
|
rs775343166
|
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NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)
|
|
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NM_012186.3(FOXE3):c.180G>A (p.Gly60=)
|
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NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)
|
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NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)
|
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NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
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NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
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NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
|
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|
NM_012186.3(FOXE3):c.204G>C (p.Gln68His)
|
rs1646883579
|
|
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
|
|
|
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
|
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|
NM_012186.3(FOXE3):c.21_24del (p.Met7fs)
|
rs1464817302
|
|
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)
|
|
|
NM_012186.3(FOXE3):c.22G>C (p.Asp8His)
|
rs1646882092
|
|
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
|
|
|
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
|
|
|
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp)
|
rs1289511554
|
|
NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
|
|
|
NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
|
|
|
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser)
|
rs2124042280
|
|
NM_012186.3(FOXE3):c.285C>G (p.Ala95=)
|
|
|
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
|
|
|
NM_012186.3(FOXE3):c.2del (p.Met1fs)
|
rs2124041028
|
|
NM_012186.3(FOXE3):c.306C>T (p.Thr102=)
|
|
|
NM_012186.3(FOXE3):c.309A>G (p.Glu103=)
|
rs2124042422
|
|
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
|
|
|
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)
|
rs755377651
|
|
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
|
|
|
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
|
|
|
NM_012186.3(FOXE3):c.315T>C (p.Phe105=)
|
rs2124042461
|
|
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
|
|
|
NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
|
|
|
NM_012186.3(FOXE3):c.327C>A (p.Arg109=)
|
rs2124042503
|
|
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
|
|
|
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro)
|
rs779654261
|
|
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg)
|
rs2124042559
|
|
NM_012186.3(FOXE3):c.348G>A (p.Gln116=)
|
rs774479548
|
|
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)
|
rs1057518737
|
|
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
|
|
|
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys)
|
rs1646884682
|
|
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro)
|
rs2124042635
|
|
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu)
|
rs2124042660
|
|
NM_012186.3(FOXE3):c.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer)
|
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|
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
|
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|
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
|
|
|
NM_012186.3(FOXE3):c.408G>A (p.Pro136=)
|
|
|
NM_012186.3(FOXE3):c.408G>C (p.Pro136=)
|
rs780736595
|
|
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser)
|
rs373777806
|
|
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
|
|
|
NM_012186.3(FOXE3):c.438G>A (p.Thr146=)
|
|
|
NM_012186.3(FOXE3):c.453C>G (p.Ala151=)
|
|
|
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
|
|
|
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
|
|
|
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys)
|
rs1389713794
|
|
NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
|
|
|
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser)
|
rs1391534565
|
|
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
|
|
|
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
|
|
|
NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
|
|
|
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
|
|
|
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
|
|
|
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
|
|
|
NM_012186.3(FOXE3):c.519C>A (p.Pro173=)
|
rs577539007
|
|
NM_012186.3(FOXE3):c.519C>T (p.Pro173=)
|
|
|
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs)
|
rs2124043258
|
|
NM_012186.3(FOXE3):c.534G>A (p.Ala178=)
|
|
|
NM_012186.3(FOXE3):c.535del (p.Ala179fs)
|
|
|
NM_012186.3(FOXE3):c.552C>T (p.Leu184=)
|
|
|
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu)
|
rs2124043406
|
|
NM_012186.3(FOXE3):c.555dup (p.Phe186fs)
|
rs1465921700
|
|
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
|
|
|
NM_012186.3(FOXE3):c.55C>T (p.Leu19=)
|
|
|
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
|
|
|
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1])
|
rs768610152
|
|
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])
|
rs768610152
|
|
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
|
|
|
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
|
|
|
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1])
|
rs1336140217
|
|
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
|
|
|
NM_012186.3(FOXE3):c.576G>A (p.Ala192=)
|
rs2124043529
|
|
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
|
|
|
NM_012186.3(FOXE3):c.636G>T (p.Pro212=)
|
rs1289906223
|
|
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
|
|
|
NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
|
|
|
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
|
|
|
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
|
|
|
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
|
|
|
NM_012186.3(FOXE3):c.666G>A (p.Leu222=)
|
rs959738363
|
|
NM_012186.3(FOXE3):c.669G>T (p.Val223=)
|
|
|
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys)
|
rs1255205439
|
|
NM_012186.3(FOXE3):c.681G>A (p.Pro227=)
|
|
|
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile)
|
rs2124043930
|
|
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
|
|
|
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
|
|
|
NM_012186.3(FOXE3):c.696G>C (p.Leu232=)
|
|
|
NM_012186.3(FOXE3):c.6G>C (p.Ala2=)
|
rs928328635
|
|
NM_012186.3(FOXE3):c.6G>T (p.Ala2=)
|
|
|
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
|
|
|
NM_012186.3(FOXE3):c.705C>G (p.Pro235=)
|
|
|
NM_012186.3(FOXE3):c.705del (p.Glu236fs)
|
|
|
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
|
|
|
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)
|
|
|
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser)
|
rs1646888724
|
|
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser)
|
rs1327526761
|
|
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)
|
|
|
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
|
|
|
NM_012186.3(FOXE3):c.729C>T (p.Pro243=)
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|
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
|
|
|
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
|
|
|
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
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NM_012186.3(FOXE3):c.756C>G (p.Pro252=)
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|
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del)
|
rs761938618
|
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NM_012186.3(FOXE3):c.75G>C (p.Ser25=)
|
rs1327386935
|
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NM_012186.3(FOXE3):c.75G>T (p.Ser25=)
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|
|
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
|
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|
NM_012186.3(FOXE3):c.774C>T (p.Ser258=)
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|
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
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|
|
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu)
|
rs2124041379
|
|
NM_012186.3(FOXE3):c.780A>G (p.Pro260=)
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|
|
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
|
|
|
NM_012186.3(FOXE3):c.789G>A (p.Ser263=)
|
rs1252974267
|
|
NM_012186.3(FOXE3):c.798C>G (p.Pro266=)
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|
|
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
|
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|
NM_012186.3(FOXE3):c.801C>T (p.Asp267=)
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NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
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NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
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NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
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NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro)
|
rs1351111614
|
|
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
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NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
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NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
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NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
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NM_012186.3(FOXE3):c.831C>A (p.Gly277=)
|
rs527783871
|
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NM_012186.3(FOXE3):c.834C>T (p.Pro278=)
|
rs886042525
|
|
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
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NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
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NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer)
|
rs1476879051
|
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NM_012186.3(FOXE3):c.84G>A (p.Pro28=)
|
rs2124041428
|
|
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu)
|
rs1184373895
|
|
NM_012186.3(FOXE3):c.855C>T (p.Pro285=)
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|
NM_012186.3(FOXE3):c.861G>A (p.Leu287=)
|
rs1570406069
|
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NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
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NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
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NM_012186.3(FOXE3):c.877dup (p.Ala293fs)
|
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NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)
|
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NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr)
|
|
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NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
|
|
|
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)
|
|
|
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg)
|
|
|
NM_012186.3(FOXE3):c.927G>A (p.Pro309=)
|
rs1338427430
|
|
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
|
|
|
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs)
|
rs2124045053
|
|
NM_012186.3(FOXE3):c.942G>T (p.Gly314=)
|
rs1295698690
|
|
NM_012186.3(FOXE3):c.943C>T (p.Leu315=)
|
rs1473311737
|
|
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
|
|
|
NM_012186.3(FOXE3):c.96C>T (p.Leu32=)
|
|
|
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr)
|
rs1646882579
|
|
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
|
|
|
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
|
|
|
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
|
|
|
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
|
|
|
NM_012293.3(PXDN):c.1284C>T (p.Ile428=)
|
|
|
NM_012293.3(PXDN):c.1383G>A (p.Pro461=)
|
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|
NM_012293.3(PXDN):c.1386C>T (p.Pro462=)
|
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|
NM_012293.3(PXDN):c.1408+15G>A
|
|
|
NM_012293.3(PXDN):c.1408+8_1408+9dup
|
|
|
NM_012293.3(PXDN):c.1409-16G>A
|
|
|
NM_012293.3(PXDN):c.1409-16G>T
|
|
|
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser)
|
rs2125425458
|
|
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
|
|
|
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter)
|
|
|
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
|
|
|
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile)
|
rs773445177
|
|
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
|
|
|
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
|
|
|
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
|
|
|
NM_012293.3(PXDN):c.2172C>T (p.Thr724=)
|
rs368483848
|
|
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
|
|
|
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys)
|
rs2125412247
|
|
NM_012293.3(PXDN):c.2350del (p.His784fs)
|
rs2125412042
|
|
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter)
|
rs1316655042
|
|
NM_012293.3(PXDN):c.243A>G (p.Ala81=)
|
rs1572164777
|
|
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
|
|
|
NM_012293.3(PXDN):c.2569del (p.Cys857fs)
|
rs1408683917
|
|
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg)
|
rs769171499
|
|
NM_012293.3(PXDN):c.2640C>G (p.Arg880=)
|
rs79442404
|
|
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
|
|
|
NM_012293.3(PXDN):c.272+18A>G
|
|
|
NM_012293.3(PXDN):c.2730A>C (p.Ile910=)
|
rs1863135
|
|
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
|
|
|
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
|
|
|
NM_012293.3(PXDN):c.2821G>A (p.Val941Met)
|
rs189824177
|
|
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter)
|
rs2125411312
|
|
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
|
|
|
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
|
|
|
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
|
|
|
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
|
|
|
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=)
|
rs147695468
|
|
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
|
|
|
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
|
|
|
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
|
|
|
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
|
|
|
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu)
|
rs2125500995
|
|
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
|
|
|
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=)
|
rs773884838
|
|
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
|
|
|
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln)
|
|
|
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=)
|
rs375049627
|
|
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=)
|
rs2125410277
|
|
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
|
|
|
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=)
|
rs377271958
|
|
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)
|
rs111450110
|
|
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)
|
rs367602205
|
|
NM_012293.3(PXDN):c.3953-5T>C
|
|
|
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
|
|
|
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
|
|
|
NM_012293.3(PXDN):c.417-7C>T
|
|
|
NM_012293.3(PXDN):c.4206+15G>A
|
|
|
NM_012293.3(PXDN):c.4320+10G>A
|
|
|
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
|
|
|
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
|
|
|
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
|
|
|
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
|
|
|
NM_012293.3(PXDN):c.657G>A (p.Ala219=)
|
rs764442724
|
|
NM_012293.3(PXDN):c.717A>G (p.Glu239=)
|
rs2125441165
|
|
NM_012293.3(PXDN):c.730+15dup
|
|
|
NM_012293.3(PXDN):c.730+18C>T
|
|
|
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
|
|
|
NM_012293.3(PXDN):c.831C>A (p.Ile277=)
|
rs1553362974
|
|
NM_012293.3(PXDN):c.849-8C>T
|
|
|
NM_012293.3(PXDN):c.873T>C (p.Asp291=)
|
|
|
NM_019040.5(ELP4):c.*2022_*2023del
|
rs777790874
|
|