|
NM_019040.5(ELP4):c.927+4C>A
|
rs4922872
|
0.98610
|
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
|
NM_017583.6(TRIM44):c.670-27G>C
|
rs3740798
|
0.13698
|
|
NM_017583.6(TRIM44):c.*23A>G
|
rs61881297
|
0.12522
|
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
|
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_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
|
NM_000280.4(PAX6):c.-7421C>T
|
rs537446654
|
0.00248
|
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
0.00198
|
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
|
NM_001368894.2(PAX6):c.1075-275A>C
|
rs3026392
|
0.00180
|
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
|
NM_024426.6(WT1):c.1161A>G (p.Ala387=)
|
rs141834493
|
0.00051
|
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
|
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.978C>T (p.Gly326=)
|
rs115833025
|
0.00035
|
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
0.00019
|
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
|
NM_001368894.2(PAX6):c.-118T>C
|
rs992201562
|
0.00016
|
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
|
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_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
|
NM_024426.6(WT1):c.1264+19C>T
|
rs2234592
|
0.00010
|
|
NM_024426.6(WT1):c.849C>T (p.Thr283=)
|
rs145425799
|
0.00010
|
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
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_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
|
NM_024426.6(WT1):c.887+14G>A
|
rs757237600
|
0.00008
|
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
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_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
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_024426.6(WT1):c.1016+15C>T
|
rs752756426
|
0.00004
|
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
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_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
|
NM_024426.6(WT1):c.1038C>T (p.Ser346=)
|
rs750018485
|
0.00003
|
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
|
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_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
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_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
|
NM_024426.6(WT1):c.115C>A (p.Arg39=)
|
rs763147828
|
0.00001
|
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
|
NM_024426.6(WT1):c.27G>A (p.Pro9=)
|
rs556835183
|
0.00001
|
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
|
NM_024426.6(WT1):c.945C>T (p.Asn315=)
|
rs775085343
|
0.00001
|
|
GRCh37/hg19 11p13(chr11:31083877-31704548)x1
|
|
|
|
GRCh37/hg19 11p13(chr11:31147306-31714853)x1
|
|
|
|
GRCh37/hg19 11p13(chr11:31186493-31698208)x1
|
|
|
|
GRCh37/hg19 11p13(chr11:31760458-31823847)x1
|
|
|
|
GRCh37/hg19 11p13(chr11:31820789-31824052)x1
|
|
|
|
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1
|
|
|
|
NC_000004.10:g.111994000_115504000del3510001
|
|
|
|
NC_000006.10:g.1543591_1675085del131495
|
|
|
|
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_000011.10:g.30896521_31676711del
|
|
|
|
NC_000011.10:g.30988877_31725876del
|
|
|
|
NC_000011.10:g.31130456_31671718del
|
|
|
|
NC_000011.10:g.31256273_31773692del
|
|
|
|
NC_000011.10:g.31400877_31729876del
|
|
|
|
NC_000011.8:g.31199000_31849000del650001
|
|
|
|
NC_000011.8:g.31199000_31914000del715001
|
|
|
|
NC_000011.8:g.31698271_31794414del96144
|
|
|
|
NC_000011.8:g.31779000_31933000del154001
|
|
|
|
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.-125dup
|
|
|
|
NM_000280.4(PAX6):c.358delG
|
rs886042838
|
|
|
NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg)
|
rs150310830
|
|
|
NM_001173464.2(KIF21A):c.2287G>A (p.Val763Met)
|
rs869025264
|
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
|
NM_001368894.2(PAX6):c.-118_-117del
|
rs1554986858
|
|
|
NM_001368894.2(PAX6):c.-120_-118dup
|
|
|
|
NM_001368894.2(PAX6):c.-122dup
|
rs2135311510
|
|
|
NM_001368894.2(PAX6):c.-128-2del
|
rs1131692282
|
|
|
NM_001368894.2(PAX6):c.-129+1G>A
|
rs1565277245
|
|
|
NM_001368894.2(PAX6):c.-129+2T>A
|
rs878852979
|
|
|
NM_001368894.2(PAX6):c.-138_-129+3del
|
rs1592654547
|
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
|
NM_001368894.2(PAX6):c.-52+1G>A
|
rs1592614756
|
|
|
NM_001368894.2(PAX6):c.-52+1del
|
rs1955943115
|
|
|
NM_001368894.2(PAX6):c.-52+3_-52+4del
|
rs1565264399
|
|
|
NM_001368894.2(PAX6):c.-52+3_-52+6delinsTG
|
rs1565264372
|
|
|
NM_001368894.2(PAX6):c.-52+5del
|
rs1565264387
|
|
|
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+1G>C
|
rs1592610121
|
|
|
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.1017del (p.Tyr340fs)
|
|
|
|
NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)
|
|
|
|
NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)
|
rs1592410582
|
|
|
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.1052_1064dup (p.Leu355_Pro356insGlyLysTer)
|
rs1592409736
|
|
|
NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs)
|
rs1592409876
|
|
|
NM_001368894.2(PAX6):c.1061del (p.Asn354fs)
|
rs2134574071
|
|
|
NM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter)
|
|
|
|
NM_001368894.2(PAX6):c.1074+16G>A
|
|
|
|
NM_001368894.2(PAX6):c.1074+1G>C
|
rs1950507886
|
|
|
NM_001368894.2(PAX6):c.1074+3A>G
|
rs1592409561
|
|
|
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+6T>G
|
rs1131692316
|
|
|
NM_001368894.2(PAX6):c.1074+8C>T
|
|
|
|
NM_001368894.2(PAX6):c.1075-1G>A
|
rs1592370265
|
|
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
|
NM_001368894.2(PAX6):c.1075-3C>A
|
|
|
|
NM_001368894.2(PAX6):c.1075-3C>G
|
rs886044223
|
|
|
NM_001368894.2(PAX6):c.1075-8C>T
|
|
|
|
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
|
|
|
|
NM_001368894.2(PAX6):c.1079del (p.Pro360fs)
|
rs1592370052
|
|
|
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu)
|
rs1592563636
|
|
|
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val)
|
rs1592563636
|
|
|
NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs)
|
rs1592563333
|
|
|
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)
|
rs1346292898
|
|
|
NM_001368894.2(PAX6):c.1086del (p.Ser363fs)
|
rs1592369895
|
|
|
NM_001368894.2(PAX6):c.1086dup (p.Ser363fs)
|
rs1592369895
|
|
|
NM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs)
|
rs1131692317
|
|
|
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.109dup (p.Ala37fs)
|
rs1057517780
|
|
|
NM_001368894.2(PAX6):c.11-20T>C
|
|
|
|
NM_001368894.2(PAX6):c.11-218_565+80del
|
|
|
|
NM_001368894.2(PAX6):c.11-24_11-20dup
|
rs2135156050
|
|
|
NM_001368894.2(PAX6):c.11-2A>G
|
rs1592564908
|
|
|
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)
|
rs121907915
|
|
|
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.1103_1112del (p.Tyr368fs)
|
rs1592369407
|
|
|
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)
|
|
|
|
NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter)
|
rs1592369500
|
|
|
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
|
|
|
|
NM_001368894.2(PAX6):c.1119del (p.Thr374fs)
|
rs864309681
|
|
|
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
|
rs397514640
|
|
|
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.113_114dup (p.Pro39fs)
|
rs1565245598
|
|
|
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
|
|
|
|
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
|
|
|
|
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs)
|
rs1554985737
|
|
|
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del)
|
rs1592562717
|
|
|
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.1202_1205del (p.Gly401fs)
|
rs1592367623
|
|
|
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)
|
rs1329112134
|
|
|
NM_001368894.2(PAX6):c.1211_1225+1del
|
|
|
|
NM_001368894.2(PAX6):c.1211del (p.Gly404fs)
|
rs1592367444
|
|
|
NM_001368894.2(PAX6):c.121del (p.Asp41fs)
|
rs1592563047
|
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
|
NM_001368894.2(PAX6):c.1225+1G>A
|
rs1554982537
|
|
|
NM_001368894.2(PAX6):c.1225+2T>C
|
rs1131692319
|
|
|
NM_001368894.2(PAX6):c.1225+4dup
|
rs1592366970
|
|
|
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.1225G>C (p.Gly409Arg)
|
rs1131692318
|
|
|
NM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter)
|
rs1131692318
|
|
|
NM_001368894.2(PAX6):c.1226-13C>T
|
rs2134386969
|
|
|
NM_001368894.2(PAX6):c.1226-1G>C
|
rs1592350356
|
|
|
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.1231A>T (p.Ile411Phe)
|
|
|
|
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
|
|
|
|
NM_001368894.2(PAX6):c.1253del (p.Pro418fs)
|
|
|
|
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)
|
rs1554982299
|
|
|
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser)
|
rs1592562910
|
|
|
NM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs)
|
rs1131692287
|
|
|
NM_001368894.2(PAX6):c.1266C>G (p.Pro422=)
|
rs369180308
|
|
|
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
|
|
|
|
NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)
|
|
|
|
NM_001368894.2(PAX6):c.1282dup (p.Met428fs)
|
rs1592349567
|
|
|
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.1294_1308delinsACAGTAAA (p.Trp432fs)
|
rs1592348542
|
|
|
NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)
|
rs1592348901
|
|
|
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)
|
rs750848278
|
|
|
NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?)
|
rs1160348364
|
|
|
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)
|
rs1592348310
|
|
|
NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter)
|
rs141873759
|
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
|
NM_001368894.2(PAX6):c.133_141+4del
|
rs1554985709
|
|
|
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)
|
rs1554985716
|
|
|
NM_001368894.2(PAX6):c.140A>C (p.Gln47Pro)
|
rs1131692289
|
|
|
NM_001368894.2(PAX6):c.140A>G (p.Gln47Arg)
|
rs1131692289
|
|
|
NM_001368894.2(PAX6):c.141+19C>T
|
|
|
|
NM_001368894.2(PAX6):c.141+1G>C
|
rs1554985714
|
|
|
NM_001368894.2(PAX6):c.141+3G>A
|
|
|
|
NM_001368894.2(PAX6):c.141+3G>C
|
rs369243018
|
|
|
NM_001368894.2(PAX6):c.141+4A>G
|
rs1131692290
|
|
|
NM_001368894.2(PAX6):c.141+4A>T
|
rs1131692290
|
|
|
NM_001368894.2(PAX6):c.141+9C>G
|
rs1194088876
|
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
|
NM_001368894.2(PAX6):c.184-14C>G
|
rs1131692291
|
|
|
NM_001368894.2(PAX6):c.184-1G>A
|
rs1592546566
|
|
|
NM_001368894.2(PAX6):c.184-1_195dup
|
rs1592546340
|
|
|
NM_001368894.2(PAX6):c.184-2A>G
|
rs1592546589
|
|
|
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.184-8C>T
|
rs886048203
|
|
|
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
|
|
|
|
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
|
rs1131692293
|
|
|
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.19G>C (p.Gly7Arg)
|
rs1131692285
|
|
|
NM_001368894.2(PAX6):c.19G>T (p.Gly7Ter)
|
rs1131692285
|
|
|
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)
|
rs1131692284
|
|
|
NM_001368894.2(PAX6):c.1A>G (p.Met1Val)
|
rs1131692284
|
|
|
NM_001368894.2(PAX6):c.200T>G (p.Val67Gly)
|
rs1592546273
|
|
|
NM_001368894.2(PAX6):c.200_201del (p.Val67fs)
|
|
|
|
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)
|
rs1592546120
|
|
|
NM_001368894.2(PAX6):c.206A>C (p.Lys69Thr)
|
rs1131692294
|
|
|
NM_001368894.2(PAX6):c.208del (p.Ile70fs)
|
rs1592546024
|
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
|
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro)
|
rs1592545972
|
|
|
NM_001368894.2(PAX6):c.216C>T (p.Gly72=)
|
rs763807196
|
|
|
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)
|
rs760490431
|
|
|
NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter)
|
rs760490431
|
|
|
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
|
|
|
|
NM_001368894.2(PAX6):c.226G>T (p.Glu76Ter)
|
rs1131692295
|
|
|
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs)
|
rs1953961273
|
|
|
NM_001368894.2(PAX6):c.233G>T (p.Gly78Val)
|
rs121907920
|
|
|
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
|
|
|
|
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu)
|
rs1953954636
|
|
|
NM_001368894.2(PAX6):c.246dup (p.Arg83fs)
|
rs1592545392
|
|
|
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.280_283dup (p.Pro95fs)
|
rs1554985378
|
|
|
NM_001368894.2(PAX6):c.286G>T (p.Glu96Ter)
|
rs1131692296
|
|
|
NM_001368894.2(PAX6):c.288dup (p.Val97fs)
|
rs1592544553
|
|
|
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.297C>T (p.Ser99=)
|
rs1064793223
|
|
|
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer)
|
rs1592544327
|
|
|
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.317G>C (p.Arg106Pro)
|
rs769095184
|
|
|
NM_001368894.2(PAX6):c.318G>A (p.Arg106=)
|
rs1953919512
|
|
|
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)
|
|
|
|
NM_001368894.2(PAX6):c.323del (p.Cys108fs)
|
rs1592543841
|
|
|
NM_001368894.2(PAX6):c.328_337del (p.Ser110fs)
|
rs1592543499
|
|
|
NM_001368894.2(PAX6):c.333_336dup (p.Ala113fs)
|
rs1131692298
|
|
|
NM_001368894.2(PAX6):c.335_340delinsGTTCA (p.Phe112fs)
|
rs1131692299
|
|
|
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.341G>A (p.Trp114Ter)
|
rs1554985320
|
|
|
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter)
|
rs1131692300
|
|
|
NM_001368894.2(PAX6):c.343del (p.Glu115fs)
|
|
|
|
NM_001368894.2(PAX6):c.347T>A (p.Ile116Asn)
|
rs1565238322
|
|
|
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.367_368delinsCAG (p.Glu123fs)
|
rs1592542942
|
|
|
NM_001368894.2(PAX6):c.367del (p.Glu123fs)
|
rs1592543032
|
|
|
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_001368894.2(PAX6):c.372_373dup (p.Val125fs)
|
rs1357628990
|
|
|
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.375C>A (p.Val125=)
|
rs1592542705
|
|
|
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
|
|
|
|
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs)
|
rs2135088191
|
|
|
NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter)
|
rs1592542343
|
|
|
NM_001368894.2(PAX6):c.38_41delinsAATCAGC (p.Gly13_Val14delinsGluSerAla)
|
|
|
|
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)
|
rs1592542273
|
|
|
NM_001368894.2(PAX6):c.395del (p.Pro132fs)
|
rs1131692301
|
|
|
NM_001368894.2(PAX6):c.399+10_399+11del
|
rs2135085957
|
|
|
NM_001368894.2(PAX6):c.399+136G>A
|
rs1565237004
|
|
|
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+334G>A
|
rs1565236383
|
|
|
NM_001368894.2(PAX6):c.399+3A>T
|
rs2135086830
|
|
|
NM_001368894.2(PAX6):c.399+4A>T
|
rs1554985282
|
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
|
|
NM_001368894.2(PAX6):c.399+9A>G
|
|
|
|
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg)
|
rs121907928
|
|
|
NM_001368894.2(PAX6):c.399C>G (p.Ser133Arg)
|
rs121907928
|
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
|
NM_001368894.2(PAX6):c.399_399+5del
|
rs1592542060
|
|
|
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)
|
rs1554986754
|
|
|
NM_001368894.2(PAX6):c.3G>T (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.400-1G>A
|
rs1592532561
|
|
|
NM_001368894.2(PAX6):c.400-2A>G
|
rs1592532580
|
|
|
NM_001368894.2(PAX6):c.400-2A>T
|
rs1592532580
|
|
|
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)
|
rs1554985100
|
|
|
NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter)
|
rs1554985100
|
|
|
NM_001368894.2(PAX6):c.409_415del (p.Ile137fs)
|
rs1131692302
|
|
|
NM_001368894.2(PAX6):c.410T>A (p.Ile137Lys)
|
|
|
|
NM_001368894.2(PAX6):c.413del (p.Asn138fs)
|
rs886041221
|
|
|
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)
|
|
|
|
NM_001368894.2(PAX6):c.415dup (p.Arg139fs)
|
rs1592532169
|
|
|
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>A (p.Arg142His)
|
rs1592531953
|
|
|
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)
|
rs1592531953
|
|
|
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu)
|
rs1592531953
|
|
|
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
|
|
|
|
NM_001368894.2(PAX6):c.443del (p.Lys148fs)
|
rs1131692303
|
|
|
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)
|
rs1131692304
|
|
|
NM_001368894.2(PAX6):c.448C>T (p.Gln150Ter)
|
rs121907912
|
|
|
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.47_57del (p.Val16fs)
|
rs1592564219
|
|
|
NM_001368894.2(PAX6):c.47del (p.Val16fs)
|
|
|
|
NM_001368894.2(PAX6):c.483del (p.Met162fs)
|
rs2135047165
|
|
|
NM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs)
|
rs1131692305
|
|
|
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.4del (p.Gln2fs)
|
rs1592610205
|
|
|
NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter)
|
rs1131692306
|
|
|
NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)
|
|
|
|
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
|
rs1554985028
|
|
|
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
|
|
|
|
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
|
rs1592530521
|
|
|
NM_001368894.2(PAX6):c.512del (p.Gly171fs)
|
rs1554985024
|
|
|
NM_001368894.2(PAX6):c.517del (p.Arg173fs)
|
rs1592530379
|
|
|
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
|
|
|
|
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys)
|
rs1388158419
|
|
|
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.531T>G (p.Tyr177Ter)
|
rs1592530126
|
|
|
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.533del (p.Pro178fs)
|
rs1131692307
|
|
|
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
|
|
|
|
NM_001368894.2(PAX6):c.537del (p.Thr180fs)
|
rs1554984996
|
|
|
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala)
|
rs1592564366
|
|
|
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)
|
rs1592529768
|
|
|
NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)
|
rs151086737
|
|
|
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.566-14_567del
|
rs1592435527
|
|
|
NM_001368894.2(PAX6):c.566-1G>A
|
rs1592435632
|
|
|
NM_001368894.2(PAX6):c.566-1G>T
|
|
|
|
NM_001368894.2(PAX6):c.566-2A>G
|
rs1592435653
|
|
|
NM_001368894.2(PAX6):c.569del (p.Gly190fs)
|
rs1592435423
|
|
|
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)
|
rs2135152943
|
|
|
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
|
|
|
|
NM_001368894.2(PAX6):c.574C>T (p.Gln192Ter)
|
rs1565207028
|
|
|
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.589G>C (p.Gly197Arg)
|
rs886048202
|
|
|
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.62del (p.Leu21fs)
|
rs1592564157
|
|
|
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
|
|
|
|
NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)
|
rs1592434096
|
|
|
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_75del (p.Asp23fs)
|
rs1592564013
|
|
|
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
|
|
|
|
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)
|
rs1592433640
|
|
|
NM_001368894.2(PAX6):c.677_680del (p.Arg226fs)
|
rs1592433606
|
|
|
NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)
|
rs1592433545
|
|
|
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.723A>G (p.Lys241=)
|
rs1592433022
|
|
|
NM_001368894.2(PAX6):c.724+14del
|
rs772158967
|
|
|
NM_001368894.2(PAX6):c.724+16A>G
|
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|
|
NM_001368894.2(PAX6):c.724+1G>A
|
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|
NM_001368894.2(PAX6):c.724+20T>C
|
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NM_001368894.2(PAX6):c.724+3G>A
|
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|
NM_001368894.2(PAX6):c.724+4del
|
rs1131692311
|
|
|
NM_001368894.2(PAX6):c.724+7G>C
|
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|
NM_001368894.2(PAX6):c.724+8_724+9del
|
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|
|
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.725-1G>C
|
rs1131692310
|
|
|
NM_001368894.2(PAX6):c.725-5T>C
|
rs1592421981
|
|
|
NM_001368894.2(PAX6):c.725-6T>A
|
|
|
|
NM_001368894.2(PAX6):c.725-8T>A
|
|
|
|
NM_001368894.2(PAX6):c.725-9C>G
|
rs1592422097
|
|
|
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
|
|
|
|
NM_001368894.2(PAX6):c.741T>C (p.His247=)
|
|
|
|
NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)
|
rs1592421398
|
|
|
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.767G>C (p.Arg256Thr)
|
rs121907927
|
|
|
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)
|
rs121907913
|
|
|
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.801_807del (p.Ile268fs)
|
|
|
|
NM_001368894.2(PAX6):c.802_807+9del
|
rs2134609369
|
|
|
NM_001368894.2(PAX6):c.802del (p.Ile268fs)
|
rs1131692312
|
|
|
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.807G>C (p.Gln269His)
|
rs1592420967
|
|
|
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>A
|
rs1592416538
|
|
|
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.813G>A (p.Trp271Ter)
|
rs121907929
|
|
|
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.834del (p.Lys278fs)
|
rs1131692313
|
|
|
NM_001368894.2(PAX6):c.834dup (p.Trp279fs)
|
rs1131692313
|
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
|
NM_001368894.2(PAX6):c.843del (p.Glu282fs)
|
rs1592415958
|
|
|
NM_001368894.2(PAX6):c.846del (p.Glu283fs)
|
rs1592415868
|
|
|
NM_001368894.2(PAX6):c.854_855del (p.Leu285fs)
|
rs1592415745
|
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
|
rs1554983229
|
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
|
NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)
|
rs1592415563
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
|
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
|
|
|
|
NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs)
|
rs1565200471
|
|
|
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.921del (p.Ser308fs)
|
rs1131692315
|
|
|
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.94C>G (p.Leu32Val)
|
rs1592563721
|
|
|
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
|
|
|
|
NM_001368894.2(PAX6):c.951del (p.Thr318fs)
|
rs1592414464
|
|
|
NM_001368894.2(PAX6):c.956del (p.Pro319fs)
|
rs2134588361
|
|
|
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.958+1G>C
|
rs1057517783
|
|
|
NM_001368894.2(PAX6):c.958+1G>T
|
rs1057517783
|
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
|
NM_001368894.2(PAX6):c.959-1G>C
|
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.967_968del (p.Phe323fs)
|
rs1592411896
|
|
|
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_001604.5(PAX6):c.(10+1_11-1)_(1311_?)del
|
|
|
|
NM_003106.4(SOX2):c.20C>T (p.Thr7Met)
|
rs1714834018
|
|
|
NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)
|
rs2124283411
|
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
|
NM_019040.5(ELP4):c.*2022_*2023del
|
rs777790874
|
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
|
NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter)
|
rs1945237259
|
|
|
NM_019040.5(ELP4):c.1143+14176C>A
|
rs606231388
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
|
NM_024426.6(WT1):c.1448-10G>A
|
rs185744719
|
|
|
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
|
NM_024426.6(WT1):c.543C>T (p.Arg181=)
|
rs369870529
|
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
|
NM_024426.6(WT1):c.662-10G>T
|
rs1554945255
|
|
|
NM_024426.6(WT1):c.708G>A (p.Thr236=)
|
rs768828897
|
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
|
NM_024426.6(WT1):c.780G>A (p.Ser260=)
|
rs1403311573
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|