NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_012293.3(PXDN):c.3921A>G (p.Val1307=)
|
rs6730800
|
0.86660
|
NM_012293.3(PXDN):c.4206+79G>A
|
rs6742040
|
0.84241
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_000104.4(CYP1B1):c.*695G>T
|
rs10916
|
0.76280
|
NM_012293.3(PXDN):c.1567+67C>T
|
rs12475392
|
0.75111
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NM_012293.3(PXDN):c.1836T>C (p.Asn612=)
|
rs17841813
|
0.71557
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)
|
rs7613447
|
0.68442
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_000104.4(CYP1B1):c.*350C>A
|
rs162562
|
0.67224
|
NM_005029.4(PITX3):c.285C>T (p.Ile95=)
|
rs2281983
|
0.66644
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)
|
rs1056837
|
0.49486
|
NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
|
rs1056836
|
0.48746
|
NM_000104.4(CYP1B1):c.*975A>G
|
rs2855658
|
0.48745
|
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)
|
rs10012
|
0.36324
|
NM_012293.3(PXDN):c.200+35C>T
|
rs62116430
|
0.35690
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_000104.4(CYP1B1):c.-1-12C>T
|
rs2617266
|
0.28114
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
NM_012293.3(PXDN):c.2892C>T (p.Asn964=)
|
rs3811613
|
0.25189
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_000104.4(CYP1B1):c.*2409A>T
|
rs162549
|
0.18874
|
NM_153427.2(PITX2):c.-1068C>T
|
rs62338989
|
0.17862
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
NM_012293.3(PXDN):c.4074-40A>G
|
rs66753271
|
0.09593
|
NM_012293.3(PXDN):c.3953-14T>C
|
rs7578605
|
0.09206
|
NM_012293.3(PXDN):c.1568-19C>G
|
rs7588627
|
0.07897
|
NM_000104.4(CYP1B1):c.729G>C (p.Val243=)
|
rs9341249
|
0.06879
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_012293.3(PXDN):c.1946+6G>A
|
rs73178792
|
0.05765
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_000325.6(PITX2):c.*454C>T
|
rs6533526
|
0.05143
|
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_000104.4(CYP1B1):c.*1871C>T
|
rs9341266
|
0.03671
|
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_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=)
|
rs9341247
|
0.02411
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
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_000325.6(PITX2):c.*471G>A
|
rs75911264
|
0.01337
|
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_153427.2(PITX2):c.-392G>T
|
rs113778706
|
0.01298
|
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_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
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_153427.3(PITX2):c.-211G>A
|
rs111733107
|
0.00270
|
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_153427.2(PITX2):c.-362C>G
|
rs181197472
|
0.00251
|
NM_153427.2(PITX2):c.-1024G>A
|
rs181439547
|
0.00231
|
NM_153427.2(PITX2):c.-1111C>G
|
rs187210297
|
0.00231
|
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_153427.2(PITX2):c.-1335C>A
|
rs145638916
|
0.00177
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_153427.2(PITX2):c.-793C>A
|
rs145044365
|
0.00165
|
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
|
rs202132697
|
0.00162
|
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.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_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_012293.3(PXDN):c.2283C>T (p.Thr761=)
|
rs201654539
|
0.00098
|
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_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.969C>T (p.Ala323=)
|
rs61746899
|
0.00074
|
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_012293.3(PXDN):c.1347C>T (p.Thr449=)
|
rs184142208
|
0.00063
|
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_012293.3(PXDN):c.921A>G (p.Thr307=)
|
rs117914830
|
0.00043
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
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_153427.2(PITX2):c.-1311G>T
|
rs192250966
|
0.00030
|
NM_012186.3(FOXE3):c.234G>A (p.Ala78=)
|
rs201158701
|
0.00027
|
NM_012186.3(FOXE3):c.831C>T (p.Gly277=)
|
rs527783871
|
0.00025
|
NM_153427.2(PITX2):c.-967C>T
|
rs368647502
|
0.00024
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys)
|
rs151054868
|
0.00021
|
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
NM_001453.3(FOXC1):c.216G>A (p.Gln72=)
|
rs200040370
|
0.00016
|
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr)
|
rs186563338
|
0.00013
|
NM_001453.3(FOXC1):c.279C>T (p.Asn93=)
|
rs141798688
|
0.00012
|
NM_153427.3(PITX2):c.-79G>A
|
rs535056127
|
0.00012
|
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)
|
rs78290542
|
0.00011
|
NM_001204398.1(PITX2):c.-11+12T>C
|
rs140614517
|
0.00009
|
NM_012186.3(FOXE3):c.135G>A (p.Ala45=)
|
rs886044273
|
0.00005
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001368894.2(PAX6):c.959-7C>T
|
rs750093295
|
0.00003
|
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)
|
rs771974160
|
0.00001
|
NM_001453.3(FOXC1):c.333C>T (p.Arg111=)
|
rs547414473
|
0.00001
|
NM_001453.3(FOXC1):c.600G>C (p.Gln200His)
|
rs549370363
|
0.00001
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NM_000104.4(CYP1B1):c.*210dup
|
rs4646431
|
|
NM_000104.4(CYP1B1):c.-97dup
|
rs11379588
|
|
NM_000325.6(PITX2):c.*340A>G
|
rs551209662
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
NM_001368894.2(PAX6):c.724+14del
|
rs772158967
|
|
NM_001378452.1(ITPR1):c.951+35G>C
|
rs6442895
|
|
NM_001453.3(FOXC1):c.-244C>T
|
rs185790394
|
|
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)
|
rs76840944
|
|
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.1464GGC[3] (p.Ala493_Ala495del)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
|
|
|
NM_001453.3(FOXC1):c.573C>T (p.Leu191=)
|
rs545282380
|
|
NM_001453.3(FOXC1):c.639G>T (p.Ala213=)
|
|
|
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
|
NM_012293.3(PXDN):c.1408+164T>C
|
rs890055
|
|
NM_012293.3(PXDN):c.2640C>G (p.Arg880=)
|
rs79442404
|
|
NM_012293.3(PXDN):c.272+18A>G
|
|
|
NM_012293.3(PXDN):c.2730A>C (p.Ile910=)
|
rs1863135
|
|
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
|
|
|
NM_012293.3(PXDN):c.2821G>A (p.Val941Met)
|
rs189824177
|
|
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=)
|
rs147695468
|
|
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)
|
rs111450110
|
|
NM_012293.3(PXDN):c.4206+73G>C
|
rs6742039
|
|
NM_012293.3(PXDN):c.4206+81A>G
|
rs6729142
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_153427.2(PITX2):c.-1532C>A
|
rs117231596
|
|
NM_153427.2(PITX2):c.-485C>G
|
rs2739200
|
|