NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_001368894.2(PAX6):c.141+55G>A
|
rs571151963
|
0.00101
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
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.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
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.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_001368894.2(PAX6):c.1074+139C>T
|
rs1019883076
|
0.00003
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
0.00003
|
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_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.1078C>G (p.Pro360Ala)
|
rs780973082
|
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.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)
|
rs1159095794
|
0.00001
|
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)
|
rs374396492
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)
|
rs75572362
|
0.00001
|
NM_000280.4(PAX6):c.-125dup
|
|
|
NM_001368894.2(PAX6):c.-120_-118dup
|
|
|
NM_001368894.2(PAX6):c.-129+1G>C
|
rs1565277245
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-167G>T
|
rs1956928845
|
|
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+140G>A
|
|
|
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.1075-3C>G
|
rs886044223
|
|
NM_001368894.2(PAX6):c.1075-4A>T
|
rs1592370421
|
|
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.121G>C (p.Asp41His)
|
rs886044222
|
|
NM_001368894.2(PAX6):c.1225+4dup
|
rs1592366970
|
|
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.142-3T>C
|
|
|
NM_001368894.2(PAX6):c.161T>G (p.Val54Gly)
|
rs121907921
|
|
NM_001368894.2(PAX6):c.173A>G (p.Asp58Gly)
|
|
|
NM_001368894.2(PAX6):c.183C>G (p.Asn61Lys)
|
|
|
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.192C>A (p.Asn64Lys)
|
rs727504064
|
|
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
|
|
|
NM_001368894.2(PAX6):c.199G>A (p.Val67Met)
|
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)
|
rs1953969921
|
|
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.275T>C (p.Val92Ala)
|
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.295A>G (p.Ser99Gly)
|
|
|
NM_001368894.2(PAX6):c.297C>T (p.Ser99=)
|
rs1064793223
|
|
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)
|
rs1167005463
|
|
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.399+4A>G
|
rs1554985282
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
NM_001368894.2(PAX6):c.400G>A (p.Val134Met)
|
|
|
NM_001368894.2(PAX6):c.416G>A (p.Arg139Lys)
|
|
|
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
|
|
|
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
|
rs1231578758
|
|
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)
|
rs371018133
|
|
NM_001368894.2(PAX6):c.458C>T (p.Ala153Val)
|
|
|
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.511G>A (p.Gly171Ser)
|
rs1953501315
|
|
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.55C>T (p.Arg19Trp)
|
rs1263617876
|
|
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.619A>G (p.Asn207Asp)
|
rs886044618
|
|
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.647T>C (p.Met216Thr)
|
|
|
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)
|
rs1954533614
|
|
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)
|
rs373715028
|
|
NM_001368894.2(PAX6):c.691T>C (p.Phe231Leu)
|
|
|
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>C (p.Val270Leu)
|
rs779126789
|
|
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>A (p.Gln27=)
|
rs1954524676
|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
|
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)
|
rs1592415376
|
|
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
|
|
|
NM_001368894.2(PAX6):c.920C>G (p.Thr307Ser)
|
|
|
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_001368894.2(PAX6):c.997G>A (p.Asp333Asn)
|
rs1554983133
|
|
NM_001368894.2(PAX6):c.999C>G (p.Asp333Glu)
|
rs184589894
|
|