NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_000280.4(PAX6):c.-7421C>T
|
rs537446654
|
0.00248
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
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.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser)
|
rs141021880
|
0.00002
|
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu)
|
rs759150602
|
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.1043G>C (p.Ser348Thr)
|
rs749992296
|
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.1282A>G (p.Met428Val)
|
rs541260494
|
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.1253G>T (p.Arg418Met)
|
rs373176048
|
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.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_000280.4(PAX6):c.-125dup
|
|
|
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.-120_-118dup
|
|
|
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+1del
|
rs1955943115
|
|
NM_001368894.2(PAX6):c.10+5G>T
|
|
|
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
|
|
|
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
|
|
|
NM_001368894.2(PAX6):c.1074+3A>G
|
rs1592409561
|
|
NM_001368894.2(PAX6):c.1074+4A>G
|
|
|
NM_001368894.2(PAX6):c.1074+6T>C
|
|
|
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
|
|
|
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)
|
rs1346292898
|
|
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
|
|
|
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.1166dup (p.His390fs)
|
rs756801119
|
|
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
|
|
|
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.1211_1225+1del
|
|
|
NM_001368894.2(PAX6):c.1225+4dup
|
rs1592366970
|
|
NM_001368894.2(PAX6):c.1231A>T (p.Ile411Phe)
|
|
|
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
|
|
|
NM_001368894.2(PAX6):c.1266C>G (p.Pro422=)
|
rs369180308
|
|
NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?)
|
rs1160348364
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.141+3G>A
|
|
|
NM_001368894.2(PAX6):c.141+3G>C
|
rs369243018
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001368894.2(PAX6):c.184-3C>T
|
rs2135101861
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
|
|
|
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
|
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
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.257G>C (p.Gly86Ala)
|
|
|
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys)
|
rs1565239425
|
|
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
|
|
|
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu)
|
rs886042622
|
|
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
|
|
|
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.336T>A (p.Phe112Leu)
|
rs2135091755
|
|
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
|
|
|
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
|
|
|
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
|
|
|
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
|
|
|
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
|
|
|
NM_001368894.2(PAX6):c.399+136G>A
|
rs1565237004
|
|
NM_001368894.2(PAX6):c.399+334G>A
|
rs1565236383
|
|
NM_001368894.2(PAX6):c.399+3A>T
|
rs2135086830
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
|
|
|
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
|
rs1231578758
|
|
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
|
|
|
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)
|
rs201983312
|
|
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
|
|
|
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)
|
rs1299258202
|
|
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
|
|
|
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
|
|
|
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)
|
rs1592530260
|
|
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)
|
rs954552997
|
|
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.556C>A (p.Pro186Thr)
|
rs1049560370
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)
|
rs2135152943
|
|
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
|
|
|
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.593G>T (p.Gly198Val)
|
|
|
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
|
|
|
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
|
|
|
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
|
|
|
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
|
|
|
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)
|
rs1954533614
|
|
NM_001368894.2(PAX6):c.724+20T>C
|
|
|
NM_001368894.2(PAX6):c.724+3G>A
|
|
|
NM_001368894.2(PAX6):c.724+4del
|
rs1131692311
|
|
NM_001368894.2(PAX6):c.724+8_724+9del
|
|
|
NM_001368894.2(PAX6):c.725-14A>G
|
|
|
NM_001368894.2(PAX6):c.725-8T>A
|
|
|
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)
|
rs2134611494
|
|
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg)
|
rs2134610066
|
|
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu)
|
rs779126789
|
|
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
|
|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
|
|
|
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
|
|
|
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)
|
rs1326972158
|
|
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)
|
rs1954518916
|
|
NM_003106.4(SOX2):c.20C>T (p.Thr7Met)
|
rs1714834018
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
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.*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.1023T>G (p.Tyr341Ter)
|
rs1945237259
|
|
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.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.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.722C>T (p.Ala241Val)
|
rs1190263054
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|