NM_001368894.2(PAX6):c.10+300T>C
|
rs2440246
|
1.00000
|
NM_001368894.2(PAX6):c.1075-174G>A
|
rs2071754
|
0.68628
|
NM_001368894.2(PAX6):c.725-234A>T
|
rs2239789
|
0.44333
|
NM_001368894.2(PAX6):c.1074+107C>T
|
rs3026384
|
0.22891
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_001368894.2(PAX6):c.-128-204G>A
|
rs3026361
|
0.05132
|
NM_001368894.2(PAX6):c.11-195G>A
|
rs3026371
|
0.05128
|
NM_001368894.2(PAX6):c.11-41T>C
|
rs73477673
|
0.03878
|
NM_001368894.2(PAX6):c.141+231C>T
|
rs3026372
|
0.03824
|
NM_001368894.2(PAX6):c.958+33T>A
|
rs73477665
|
0.02969
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_001368894.2(PAX6):c.142-148A>T
|
rs11031479
|
0.02537
|
NM_001368894.2(PAX6):c.399+255A>G
|
rs41275154
|
0.02233
|
NM_001368894.2(PAX6):c.-52+123T>C
|
rs56281044
|
0.01288
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001368894.2(PAX6):c.-129+229G>C
|
rs577333042
|
0.01018
|
NM_001368894.2(PAX6):c.142-149T>A
|
rs563032643
|
0.00786
|
NM_001368894.2(PAX6):c.399+38G>A
|
rs192353192
|
0.00453
|
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.-118T>C
|
rs992201562
|
0.00016
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
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_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.1078C>G (p.Pro360Ala)
|
rs780973082
|
0.00001
|
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.622G>A (p.Gly208Arg)
|
rs374396492
|
0.00001
|
NM_000280.4(PAX6):c.-125dup
|
|
|
NM_000280.6(PAX6):c.143T>C (p.Val48Ala)
|
rs2135101631
|
|
NM_001368894.2(PAX6):c.-117dup
|
rs1554986858
|
|
NM_001368894.2(PAX6):c.-129+1G>C
|
rs1565277245
|
|
NM_001368894.2(PAX6):c.10+275C>G
|
rs3026362
|
|
NM_001368894.2(PAX6):c.10+305C>T
|
rs12278087
|
|
NM_001368894.2(PAX6):c.1074+3_1074+6del
|
rs2134572801
|
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
NM_001368894.2(PAX6):c.1081del (p.Val361fs)
|
rs1131691426
|
|
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs)
|
rs1554982615
|
|
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.11-275dup
|
rs5790867
|
|
NM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs)
|
rs1592563502
|
|
NM_001368894.2(PAX6):c.1166dup (p.His390fs)
|
rs756801119
|
|
NM_001368894.2(PAX6):c.117G>C (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.1225+1G>T
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
|
|
|
NM_001368894.2(PAX6):c.1225+43T>G
|
rs3026393
|
|
NM_001368894.2(PAX6):c.141+2T>A
|
|
|
NM_001368894.2(PAX6):c.141+2T>G
|
rs1057517782
|
|
NM_001368894.2(PAX6):c.141+318C>T
|
rs3026373
|
|
NM_001368894.2(PAX6):c.142-142dup
|
rs202204811
|
|
NM_001368894.2(PAX6):c.142-3T>C
|
|
|
NM_001368894.2(PAX6):c.142-52del
|
rs145866071
|
|
NM_001368894.2(PAX6):c.161T>G (p.Val54Gly)
|
rs121907921
|
|
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu)
|
|
|
NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr)
|
rs1554985430
|
|
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
|
rs1131692293
|
|
NM_001368894.2(PAX6):c.201_204del (p.Ser68fs)
|
rs1131691570
|
|
NM_001368894.2(PAX6):c.216C>T (p.Gly72=)
|
rs763807196
|
|
NM_001368894.2(PAX6):c.219G>T (p.Arg73Ser)
|
|
|
NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)
|
|
|
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter)
|
rs775355156
|
|
NM_001368894.2(PAX6):c.297C>T (p.Ser99=)
|
rs1064793223
|
|
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)
|
|
|
NM_001368894.2(PAX6):c.321del (p.Glu107fs)
|
rs1554985335
|
|
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.373_377del (p.Val125fs)
|
rs1592542615
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+2dup
|
rs1554985285
|
|
NM_001368894.2(PAX6):c.399+4A>G
|
rs1554985282
|
|
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg)
|
rs121907928
|
|
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)
|
rs1554985100
|
|
NM_001368894.2(PAX6):c.413del (p.Asn138fs)
|
rs886041221
|
|
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)
|
rs121907918
|
|
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.531T>G (p.Tyr177Ter)
|
rs1592530126
|
|
NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter)
|
rs2135040318
|
|
NM_001368894.2(PAX6):c.54del (p.Arg19fs)
|
rs2135153182
|
|
NM_001368894.2(PAX6):c.55C>T (p.Arg19Trp)
|
rs1263617876
|
|
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)
|
rs1554983586
|
|
NM_001368894.2(PAX6):c.593del (p.Gly198fs)
|
rs886041679
|
|
NM_001368894.2(PAX6):c.609dup (p.Ile204fs)
|
rs773606401
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.724+152TG[17]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.724+152TG[18]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.724+152TG[19]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.724+152TG[20]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.724+152TG[21]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.724+152TG[27]
|
rs10525266
|
|
NM_001368894.2(PAX6):c.734_735del (p.Arg245fs)
|
rs2134613305
|
|
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.808-1G>T
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.808-2A>C
|
rs1554983251
|
|
NM_001368894.2(PAX6):c.808G>C (p.Val270Leu)
|
rs779126789
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter)
|
rs1554983238
|
|
NM_001368894.2(PAX6):c.844_848del (p.Glu282fs)
|
|
|
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs)
|
rs1592415625
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
NM_001368894.2(PAX6):c.958+1G>C
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.958+2T>C
|
rs1131691549
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.959-3C>G
|
rs1057523821
|
|
NM_001368894.2(PAX6):c.959-9T>A
|
rs1057517784
|
|
NM_001368894.2(PAX6):c.961del (p.Ser321fs)
|
rs2134582202
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|