NM_001368894.2(PAX6):c.141+1G>A
|
rs1554985714
|
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_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
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)_(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.358delG
|
rs886042838
|
|
NM_001368894.2(PAX6):c.-118_-117del
|
rs1554986858
|
|
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.-52+1G>A
|
rs1592614756
|
|
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+1G>A
|
|
|
NM_001368894.2(PAX6):c.10+1G>C
|
rs1592610121
|
|
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
|
|
|
NM_001368894.2(PAX6):c.1009del (p.Thr337fs)
|
rs1950537152
|
|
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.1024_1030del (p.Ala342fs)
|
rs1950522383
|
|
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs)
|
rs1565245835
|
|
NM_001368894.2(PAX6):c.102del (p.His34fs)
|
|
|
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)
|
|
|
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+1G>C
|
rs1950507886
|
|
NM_001368894.2(PAX6):c.1075-1G>A
|
rs1592370265
|
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
NM_001368894.2(PAX6):c.1079del (p.Pro360fs)
|
rs1592370052
|
|
NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs)
|
rs1592563333
|
|
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.109del (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.109dup (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.11-218_565+80del
|
|
|
NM_001368894.2(PAX6):c.11-2A>G
|
rs1592564908
|
|
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)
|
rs121907915
|
|
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.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.113_114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
|
|
|
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs)
|
rs1554985737
|
|
NM_001368894.2(PAX6):c.114del (p.Pro39fs)
|
|
|
NM_001368894.2(PAX6):c.114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)
|
rs1592563240
|
|
NM_001368894.2(PAX6):c.117del (p.Cys40fs)
|
|
|
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.1211del (p.Gly404fs)
|
rs1592367444
|
|
NM_001368894.2(PAX6):c.121del (p.Asp41fs)
|
rs1592563047
|
|
NM_001368894.2(PAX6):c.1225+1G>A
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.1225+2T>C
|
rs1131692319
|
|
NM_001368894.2(PAX6):c.1225+5G>A
|
rs1592366898
|
|
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.1226-1G>C
|
rs1592350356
|
|
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)
|
rs1554982299
|
|
NM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs)
|
rs1131692287
|
|
NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)
|
|
|
NM_001368894.2(PAX6):c.1282dup (p.Met428fs)
|
rs1592349567
|
|
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
|
rs1592562836
|
|
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.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+1G>C
|
rs1554985714
|
|
NM_001368894.2(PAX6):c.141+4A>T
|
rs1131692290
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
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.184-5T>G
|
rs1131692292
|
|
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
|
rs1131692293
|
|
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.208del (p.Ile70fs)
|
rs1592546024
|
|
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.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.246dup (p.Arg83fs)
|
rs1592545392
|
|
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)
|
|
|
NM_001368894.2(PAX6):c.27dup (p.Gln10fs)
|
|
|
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.301del (p.Lys100_Ile101insTer)
|
rs1592544327
|
|
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)
|
rs1131692297
|
|
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.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>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)
|
rs1565246499
|
|
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>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.372_373dup (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373del (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373dup (p.Val125fs)
|
rs1357628990
|
|
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.395del (p.Pro132fs)
|
rs1131692301
|
|
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+4A>T
|
rs1554985282
|
|
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.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.400-1G>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.417_418del (p.Arg139fs)
|
rs1592532084
|
|
NM_001368894.2(PAX6):c.417del (p.Val140fs)
|
rs2135051167
|
|
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.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.469dup (p.Tyr157fs)
|
|
|
NM_001368894.2(PAX6):c.47_57del (p.Val16fs)
|
rs1592564219
|
|
NM_001368894.2(PAX6):c.47del (p.Val16fs)
|
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NM_001368894.2(PAX6):c.483del (p.Met162fs)
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rs2135047165
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NM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs)
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rs1131692305
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|
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter)
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rs1953513506
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NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)
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NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del)
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rs1592564313
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NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)
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NM_001368894.2(PAX6):c.4del (p.Gln2fs)
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rs1592610205
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NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter)
|
rs1131692306
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NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
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rs1554985028
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NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
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rs1592530521
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NM_001368894.2(PAX6):c.512del (p.Gly171fs)
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rs1554985024
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NM_001368894.2(PAX6):c.517del (p.Arg173fs)
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rs1592530379
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NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)
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rs1953478890
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NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)
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rs1057520755
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NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)
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rs886044289
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NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
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rs886044289
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NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)
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rs1592530126
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NM_001368894.2(PAX6):c.532_536del (p.Pro178fs)
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rs1953470546
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NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)
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NM_001368894.2(PAX6):c.533del (p.Pro178fs)
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rs1131692307
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NM_001368894.2(PAX6):c.537del (p.Thr180fs)
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rs1554984996
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NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)
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rs151086737
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NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
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rs1131692308
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NM_001368894.2(PAX6):c.560del (p.Thr187fs)
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|
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NM_001368894.2(PAX6):c.566-14_567del
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rs1592435527
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NM_001368894.2(PAX6):c.566-1G>A
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rs1592435632
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NM_001368894.2(PAX6):c.566-1G>T
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NM_001368894.2(PAX6):c.566-2A>G
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rs1592435653
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NM_001368894.2(PAX6):c.569del (p.Gly190fs)
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rs1592435423
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NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs)
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rs1554983577
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NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
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rs1554983571
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NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)
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NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)
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NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)
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rs1954534591
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NM_001368894.2(PAX6):c.62del (p.Leu21fs)
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rs1592564157
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NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)
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rs1592434096
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NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
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NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
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rs121907924
|
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NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
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rs757259413
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NM_001368894.2(PAX6):c.66_75del (p.Asp23fs)
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rs1592564013
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NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
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NM_001368894.2(PAX6):c.677_680del (p.Arg226fs)
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rs1592433606
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NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)
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rs1592433545
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NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)
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|
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NM_001368894.2(PAX6):c.690del (p.Phe231fs)
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rs2134656843
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NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)
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rs1131692309
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NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)
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rs2134655427
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NM_001368894.2(PAX6):c.720del (p.Glu242fs)
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rs2134654635
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NM_001368894.2(PAX6):c.725-1G>C
|
rs1131692310
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NM_001368894.2(PAX6):c.725-6T>A
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NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)
|
rs1592421398
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NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
|
rs121907917
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|
NM_001368894.2(PAX6):c.767G>C (p.Arg256Thr)
|
rs121907927
|
|
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)
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rs121907913
|
|
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.787_807+102del
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|
|
NM_001368894.2(PAX6):c.78del (p.Gln27fs)
|
rs1131692286
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NM_001368894.2(PAX6):c.790_806del (p.Pro264fs)
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rs2134609949
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NM_001368894.2(PAX6):c.801_807del (p.Ile268fs)
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|
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NM_001368894.2(PAX6):c.802_807+9del
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rs2134609369
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NM_001368894.2(PAX6):c.802del (p.Ile268fs)
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rs1131692312
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|
NM_001368894.2(PAX6):c.803dup (p.Gln269fs)
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|
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NM_001368894.2(PAX6):c.807G>C (p.Gln269His)
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rs1592420967
|
|
NM_001368894.2(PAX6):c.808-1G>A
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rs1592416538
|
|
NM_001368894.2(PAX6):c.808-1G>C
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rs1592416538
|
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NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)
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rs1592416453
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NM_001368894.2(PAX6):c.813G>A (p.Trp271Ter)
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rs121907929
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NM_001368894.2(PAX6):c.817dup (p.Ser273fs)
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rs1592416305
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
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rs886041222
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NM_001368894.2(PAX6):c.829del (p.Ala277fs)
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rs2134595824
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NM_001368894.2(PAX6):c.834del (p.Lys278fs)
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rs1131692313
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NM_001368894.2(PAX6):c.834dup (p.Trp279fs)
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rs1131692313
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NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
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rs1131692314
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|
NM_001368894.2(PAX6):c.843del (p.Glu282fs)
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rs1592415958
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|
NM_001368894.2(PAX6):c.846del (p.Glu283fs)
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rs1592415868
|
|
NM_001368894.2(PAX6):c.854_855del (p.Leu285fs)
|
rs1592415745
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
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rs1554983229
|
|
NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)
|
rs1592415563
|
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NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs)
|
rs1565200471
|
|
NM_001368894.2(PAX6):c.893dup (p.His298fs)
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|
|
NM_001368894.2(PAX6):c.921del (p.Ser308fs)
|
rs1131692315
|
|
NM_001368894.2(PAX6):c.939dup (p.Pro314fs)
|
|
|
NM_001368894.2(PAX6):c.951del (p.Thr318fs)
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rs1592414464
|
|
NM_001368894.2(PAX6):c.956del (p.Pro319fs)
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rs2134588361
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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.967_968del (p.Phe323fs)
|
rs1592411896
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
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NM_001368894.2(PAX6):c.992dup (p.Thr332fs)
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|
|
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)
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|
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NM_001604.5(PAX6):c.(10+1_11-1)_(1311_?)del
|
|
|
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.1143+14176C>A
|
rs606231388
|
|
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
|
|