NM_000104.4(CYP1B1):c.*1027del
|
rs144188082
|
0.00927
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_000104.4(CYP1B1):c.*981T>C
|
rs9341262
|
0.00358
|
NM_000104.4(CYP1B1):c.-2G>A
|
rs9341245
|
0.00309
|
NM_000104.4(CYP1B1):c.*1062G>T
|
rs185371002
|
0.00297
|
NM_000104.4(CYP1B1):c.*2333G>A
|
rs35320531
|
0.00263
|
NM_000104.4(CYP1B1):c.*2349G>A
|
rs9341268
|
0.00257
|
NM_000104.4(CYP1B1):c.*3024T>C
|
rs532039339
|
0.00257
|
NM_000104.4(CYP1B1):c.*2207G>A
|
rs9341267
|
0.00244
|
NM_000104.4(CYP1B1):c.*118C>G
|
rs1799885
|
0.00226
|
NM_000104.4(CYP1B1):c.*1460A>G
|
rs137915099
|
0.00198
|
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=)
|
rs4987137
|
0.00191
|
NM_000104.4(CYP1B1):c.-84T>C
|
rs886055999
|
0.00139
|
NM_000104.4(CYP1B1):c.*1056G>C
|
rs187540802
|
0.00137
|
NM_000104.4(CYP1B1):c.*380G>A
|
rs35007750
|
0.00137
|
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)
|
rs141245683
|
0.00121
|
NM_000104.4(CYP1B1):c.*466G>A
|
rs9341260
|
0.00116
|
NM_153427.2(PITX2):c.-1137G>A
|
rs141922822
|
0.00086
|
NM_000104.4(CYP1B1):c.*1938G>A
|
rs570132783
|
0.00085
|
NM_000104.4(CYP1B1):c.*1075G>C
|
rs77105857
|
0.00054
|
NM_000104.4(CYP1B1):c.*1746T>C
|
rs34169771
|
0.00053
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_000104.4(CYP1B1):c.*115G>A
|
rs555706078
|
0.00046
|
NM_153427.2(PITX2):c.-436G>C
|
rs1026660025
|
0.00045
|
NM_000325.6(PITX2):c.*687A>G
|
rs185925533
|
0.00043
|
NM_000104.4(CYP1B1):c.*1781T>C
|
rs750990195
|
0.00035
|
NM_000104.4(CYP1B1):c.*1005C>T
|
rs35978993
|
0.00033
|
NM_000325.6(PITX2):c.*522T>C
|
rs188349821
|
0.00032
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_000104.4(CYP1B1):c.*1683A>G
|
rs189809220
|
0.00029
|
NM_000104.4(CYP1B1):c.*2760C>A
|
rs375588205
|
0.00021
|
NM_000104.4(CYP1B1):c.*1798T>G
|
rs900163227
|
0.00019
|
NM_153427.3(PITX2):c.-40G>A
|
rs942688607
|
0.00016
|
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp)
|
rs368249322
|
0.00015
|
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)
|
rs148461905
|
0.00014
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_000104.4(CYP1B1):c.*1269T>A
|
rs570388762
|
0.00013
|
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)
|
rs148542782
|
0.00013
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
NM_000104.4(CYP1B1):c.*1141A>G
|
rs759611970
|
0.00011
|
NM_000104.4(CYP1B1):c.*917G>A
|
rs3755026
|
0.00011
|
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
|
rs56339482
|
0.00011
|
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)
|
rs59472972
|
0.00009
|
NM_000325.6(PITX2):c.*176A>T
|
rs567517676
|
0.00009
|
NM_000104.4(CYP1B1):c.*233A>G
|
rs9341259
|
0.00008
|
NM_000104.4(CYP1B1):c.-80C>G
|
rs894434388
|
0.00008
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys)
|
rs771737035
|
0.00007
|
NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser)
|
rs377210850
|
0.00007
|
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)
|
rs375391843
|
0.00007
|
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)
|
rs780375338
|
0.00007
|
NM_000104.4(CYP1B1):c.*1491G>T
|
rs562799717
|
0.00006
|
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)
|
rs72549383
|
0.00006
|
NM_000325.6(PITX2):c.*440C>T
|
rs1301785358
|
0.00006
|
NM_153427.2(PITX2):c.-1421G>C
|
rs758425186
|
0.00006
|
NM_153427.2(PITX2):c.-501T>G
|
rs915152120
|
0.00006
|
NM_000104.4(CYP1B1):c.*2597A>G
|
rs746236755
|
0.00005
|
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)
|
rs775908245
|
0.00005
|
NM_153427.2(PITX2):c.-270A>G
|
rs1163979542
|
0.00005
|
NM_000104.4(CYP1B1):c.*1346A>G
|
rs960122791
|
0.00004
|
NM_000104.4(CYP1B1):c.*2209A>G
|
rs949462503
|
0.00004
|
NM_000104.4(CYP1B1):c.*2499T>C
|
rs886055988
|
0.00004
|
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu)
|
rs769402060
|
0.00004
|
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=)
|
rs748708268
|
0.00004
|
NM_153427.2(PITX2):c.-1092G>A
|
rs754809224
|
0.00004
|
NM_153427.2(PITX2):c.-920C>T
|
rs779178803
|
0.00004
|
NM_000104.4(CYP1B1):c.*105C>T
|
rs756083290
|
0.00003
|
NM_000104.4(CYP1B1):c.*1561A>C
|
rs34474461
|
0.00003
|
NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln)
|
rs747324108
|
0.00003
|
NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn)
|
rs372685881
|
0.00003
|
NM_000325.6(PITX2):c.*107A>C
|
rs752553102
|
0.00003
|
NM_000325.6(PITX2):c.*264A>C
|
rs886059006
|
0.00003
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
0.00003
|
NM_000104.4(CYP1B1):c.*1173del
|
rs3834137
|
0.00002
|
NM_000104.4(CYP1B1):c.*1611G>A
|
rs572531079
|
0.00002
|
NM_000104.4(CYP1B1):c.-1-10C>T
|
rs780269033
|
0.00002
|
NM_000325.6(PITX2):c.*572T>C
|
rs886059003
|
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_153427.2(PITX2):c.-1422C>A
|
rs1423855887
|
0.00002
|
NM_153427.3(PITX2):c.-53G>A
|
rs1388707841
|
0.00002
|
NM_000104.4(CYP1B1):c.*1079C>G
|
rs886055994
|
0.00001
|
NM_000104.4(CYP1B1):c.*1601C>T
|
rs886055992
|
0.00001
|
NM_000104.4(CYP1B1):c.*1730A>G
|
rs886055991
|
0.00001
|
NM_000104.4(CYP1B1):c.*1895C>T
|
rs886055990
|
0.00001
|
NM_000104.4(CYP1B1):c.*1910A>G
|
rs1405956907
|
0.00001
|
NM_000104.4(CYP1B1):c.*1956A>G
|
rs1235898139
|
0.00001
|
NM_000104.4(CYP1B1):c.*2151T>C
|
rs886055989
|
0.00001
|
NM_000104.4(CYP1B1):c.*2498T>C
|
rs572548236
|
0.00001
|
NM_000104.4(CYP1B1):c.*3086T>A
|
rs969140341
|
0.00001
|
NM_000104.4(CYP1B1):c.*43C>T
|
rs371252753
|
0.00001
|
NM_000104.4(CYP1B1):c.*661T>A
|
rs886055995
|
0.00001
|
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)
|
rs886055997
|
0.00001
|
NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn)
|
rs776848093
|
0.00001
|
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=)
|
rs142995558
|
0.00001
|
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser)
|
rs1156997078
|
0.00001
|
NM_000104.4(CYP1B1):c.381C>T (p.Ser127=)
|
rs780857657
|
0.00001
|
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=)
|
rs775055418
|
0.00001
|
NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys)
|
rs886055998
|
0.00001
|
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)
|
rs777678299
|
0.00001
|
NM_000325.6(PITX2):c.*611A>G
|
rs886059002
|
0.00001
|
NM_000325.6(PITX2):c.282G>T (p.Arg94=)
|
rs768386257
|
0.00001
|
NM_000325.6(PITX2):c.412-7C>T
|
rs762349019
|
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_153427.2(PITX2):c.-1411C>T
|
rs1256005721
|
0.00001
|
NM_153427.2(PITX2):c.-1491G>A
|
rs888167422
|
0.00001
|
NM_153427.2(PITX2):c.-483C>T
|
rs1729689311
|
0.00001
|
NM_153427.2(PITX2):c.-966A>G
|
rs1049702206
|
0.00001
|
46;XX;t(X;22)(q13;q13)
|
|
|
NM_000104.4(CYP1B1):c.*1450T>C
|
rs886055993
|
|
NM_000104.4(CYP1B1):c.*1544G>A
|
rs1682376790
|
|
NM_000104.4(CYP1B1):c.*1766G>A
|
rs1682371906
|
|
NM_000104.4(CYP1B1):c.*1908G>A
|
rs34544682
|
|
NM_000104.4(CYP1B1):c.*1961G>C
|
rs767403314
|
|
NM_000104.4(CYP1B1):c.*2289G>T
|
rs1682355981
|
|
NM_000104.4(CYP1B1):c.*2304A>C
|
rs909259463
|
|
NM_000104.4(CYP1B1):c.*2314dup
|
rs561615550
|
|
NM_000104.4(CYP1B1):c.*2660T>A
|
rs886055987
|
|
NM_000104.4(CYP1B1):c.*3064A>T
|
rs1682335231
|
|
NM_000104.4(CYP1B1):c.*3078G>A
|
rs886055986
|
|
NM_000104.4(CYP1B1):c.*493G>A
|
rs886055996
|
|
NM_000104.4(CYP1B1):c.*688T>C
|
rs1682396717
|
|
NM_000104.4(CYP1B1):c.*864T>C
|
rs987237179
|
|
NM_000104.4(CYP1B1):c.*867dup
|
rs200949126
|
|
NM_000104.4(CYP1B1):c.*879del
|
rs4646433
|
|
NM_000104.4(CYP1B1):c.*945C>T
|
rs1327335898
|
|
NM_000104.4(CYP1B1):c.*972T>C
|
rs1682390062
|
|
NM_000104.4(CYP1B1):c.*980A>C
|
rs34521017
|
|
NM_000104.4(CYP1B1):c.-197C>G
|
rs886056001
|
|
NM_000104.4(CYP1B1):c.-360G>C
|
rs886056002
|
|
NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr)
|
rs149049138
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg)
|
rs901961745
|
|
NM_000104.4(CYP1B1):c.371G>A (p.Arg124His)
|
rs1177366364
|
|
NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr)
|
rs72549384
|
|
NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys)
|
rs1682493984
|
|
NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser)
|
rs1381317977
|
|
NM_000325.6(PITX2):c.*119T>A
|
rs765040142
|
|
NM_000325.6(PITX2):c.*173G>A
|
rs1728830475
|
|
NM_000325.6(PITX2):c.*370G>C
|
rs886059005
|
|
NM_000325.6(PITX2):c.*373GTT[1]
|
rs886059004
|
|
NM_000325.6(PITX2):c.*696A>C
|
rs1728803615
|
|
NM_000325.6(PITX2):c.412-11del
|
rs886059007
|
|
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)
|
rs746908680
|
|
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.-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+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.124A>C (p.Ile42Leu)
|
|
|
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.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.260G>A (p.Gly87Asp)
|
rs2135097306
|
|
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.336T>A (p.Phe112Leu)
|
rs2135091755
|
|
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
|
|
|
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
|
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NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
|
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NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
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NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
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NM_001368894.2(PAX6):c.399+3A>T
|
rs2135086830
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NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
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NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
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NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
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NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
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rs1231578758
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NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
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NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)
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rs201983312
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NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
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NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)
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rs1299258202
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NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
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NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
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NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)
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rs1592530260
|
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NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)
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rs954552997
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NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)
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rs1592529768
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NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)
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rs1131692308
|
|
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr)
|
rs1049560370
|
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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)
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NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
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NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
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NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)
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rs541894561
|
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NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
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|
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NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
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NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
|
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NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
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NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
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NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)
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rs1954533614
|
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NM_001368894.2(PAX6):c.724+20T>C
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|
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NM_001368894.2(PAX6):c.724+3G>A
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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
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NM_001368894.2(PAX6):c.725-8T>A
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NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)
|
rs2134611494
|
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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)
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|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
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|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
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NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
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NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
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|
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NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)
|
rs1326972158
|
|
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)
|
rs1954518916
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*2022_*2023del
|
rs777790874
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_153427.2(PITX2):c.-1078C>A
|
rs1309981396
|
|
NM_153427.2(PITX2):c.-1209C>T
|
rs563409386
|
|
NM_153427.2(PITX2):c.-245G>A
|
rs1729676876
|
|
NM_153427.2(PITX2):c.-300A>T
|
rs1188264847
|
|
NM_153427.2(PITX2):c.-429C>G
|
rs985015612
|
|
NM_153427.2(PITX2):c.-515C>T
|
rs904945318
|
|
NM_153427.2(PITX2):c.-670C>T
|
rs1017565030
|
|