NM_000104.4(CYP1B1):c.-1-14C>T
|
rs4987134
|
0.02460
|
NM_000104.4(CYP1B1):c.*2371T>C
|
rs9309020
|
0.02296
|
NM_000104.4(CYP1B1):c.*926A>C
|
rs9341261
|
0.01416
|
NM_000104.4(CYP1B1):c.*2158T>C
|
rs112948057
|
0.01121
|
NM_000104.4(CYP1B1):c.*2261A>C
|
rs77534033
|
0.00985
|
NM_000104.4(CYP1B1):c.*1853G>T
|
rs9341265
|
0.00338
|
NM_153427.3(PITX2):c.-211G>A
|
rs111733107
|
0.00270
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)
|
rs200828005
|
0.00078
|
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)
|
rs200221425
|
0.00049
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_153427.2(PITX2):c.-967C>T
|
rs368647502
|
0.00024
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
NM_001368894.2(PAX6):c.-118T>C
|
rs992201562
|
0.00016
|
NM_001368894.2(PAX6):c.10+17T>C
|
rs766982377
|
0.00011
|
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=)
|
rs139416026
|
0.00011
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)
|
rs150803261
|
0.00009
|
NM_001368894.2(PAX6):c.11-12C>G
|
rs766046559
|
0.00008
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
NM_001368894.2(PAX6):c.438C>T (p.Ser146=)
|
rs146769256
|
0.00005
|
NM_001368894.2(PAX6):c.699A>G (p.Gln233=)
|
rs539046948
|
0.00005
|
NM_001368894.2(PAX6):c.1074+9G>A
|
rs376883598
|
0.00004
|
NM_001368894.2(PAX6):c.276A>G (p.Val92=)
|
rs750195797
|
0.00003
|
NM_001368894.2(PAX6):c.405A>G (p.Ser135=)
|
rs760926425
|
0.00003
|
NM_001368894.2(PAX6):c.537G>C (p.Gly179=)
|
rs374226064
|
0.00003
|
NM_001368894.2(PAX6):c.959-20G>A
|
rs751109356
|
0.00003
|
NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg)
|
rs746363033
|
0.00002
|
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=)
|
rs369447790
|
0.00002
|
NM_001368894.2(PAX6):c.717G>A (p.Leu239=)
|
rs766564648
|
0.00002
|
NM_000966.6(RARG):c.245C>T (p.Pro82Leu)
|
rs769476878
|
0.00001
|
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=)
|
rs786205467
|
0.00001
|
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=)
|
rs1185901527
|
0.00001
|
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=)
|
rs1949682214
|
0.00001
|
NM_001368894.2(PAX6):c.11-10C>G
|
rs762637284
|
0.00001
|
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=)
|
rs764134540
|
0.00001
|
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=)
|
rs766842413
|
0.00001
|
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=)
|
rs372956285
|
0.00001
|
NM_001368894.2(PAX6):c.184-4G>T
|
rs761362173
|
0.00001
|
NM_001368894.2(PAX6):c.184-9C>G
|
rs764872492
|
0.00001
|
NM_001368894.2(PAX6):c.501C>T (p.Thr167=)
|
rs201200280
|
0.00001
|
NM_001368894.2(PAX6):c.525T>A (p.Gly175=)
|
rs1315078444
|
0.00001
|
NM_001368894.2(PAX6):c.561G>A (p.Thr187=)
|
rs771257263
|
0.00001
|
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)
|
rs374396492
|
0.00001
|
NM_001368894.2(PAX6):c.658C>T (p.Leu220=)
|
rs778895282
|
0.00001
|
NM_001368894.2(PAX6):c.702G>A (p.Glu234=)
|
rs755018027
|
0.00001
|
NM_001368894.2(PAX6):c.768A>G (p.Arg256=)
|
rs757591036
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)
|
rs869025266
|
0.00001
|
NM_001368894.2(PAX6):c.10+11C>A
|
|
|
NM_001368894.2(PAX6):c.10+13G>A
|
|
|
NM_001368894.2(PAX6):c.10+7G>A
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.10+7G>T
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
|
|
|
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
|
|
|
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
|
|
|
NM_001368894.2(PAX6):c.1074+16G>A
|
|
|
NM_001368894.2(PAX6):c.1074+8C>T
|
|
|
NM_001368894.2(PAX6):c.1075-3C>A
|
|
|
NM_001368894.2(PAX6):c.1075-8C>T
|
|
|
NM_001368894.2(PAX6):c.11-20T>C
|
|
|
NM_001368894.2(PAX6):c.11-24_11-20dup
|
rs2135156050
|
|
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=)
|
rs1328757289
|
|
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
|
|
|
NM_001368894.2(PAX6):c.117G>C (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.117G>T (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
NM_001368894.2(PAX6):c.1226-13C>T
|
rs2134386969
|
|
NM_001368894.2(PAX6):c.1226-4C>G
|
rs11031477
|
|
NM_001368894.2(PAX6):c.1226-7C>T
|
|
|
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=)
|
rs776244636
|
|
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
|
|
|
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
|
|
|
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
|
|
|
NM_001368894.2(PAX6):c.141+19C>T
|
|
|
NM_001368894.2(PAX6):c.141+9C>G
|
rs1194088876
|
|
NM_001368894.2(PAX6):c.184-5T>C
|
|
|
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
|
|
|
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
|
|
|
NM_001368894.2(PAX6):c.255C>T (p.Ile85=)
|
|
|
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
|
|
|
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
|
|
|
NM_001368894.2(PAX6):c.306C>G (p.Ala102=)
|
rs1160160301
|
|
NM_001368894.2(PAX6):c.318G>A (p.Arg106=)
|
rs1953919512
|
|
NM_001368894.2(PAX6):c.339T>C (p.Ala113=)
|
|
|
NM_001368894.2(PAX6):c.33C>T (p.Leu11=)
|
|
|
NM_001368894.2(PAX6):c.349C>A (p.Arg117=)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.399+10_399+11del
|
rs2135085957
|
|
NM_001368894.2(PAX6):c.399+18A>G
|
|
|
NM_001368894.2(PAX6):c.399+9A>G
|
|
|
NM_001368894.2(PAX6):c.400-15_400-5del
|
rs758179195
|
|
NM_001368894.2(PAX6):c.400-18T>G
|
|
|
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
|
|
|
NM_001368894.2(PAX6):c.456C>T (p.Gly152=)
|
rs1304237286
|
|
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
|
|
|
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
|
|
|
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
|
|
|
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
|
|
|
NM_001368894.2(PAX6):c.565+17C>T
|
|
|
NM_001368894.2(PAX6):c.591G>A (p.Gly197=)
|
|
|
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
|
|
|
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
|
|
|
NM_001368894.2(PAX6):c.714C>T (p.Ala238=)
|
rs1554983496
|
|
NM_001368894.2(PAX6):c.724+16A>G
|
|
|
NM_001368894.2(PAX6):c.724+7G>C
|
|
|
NM_001368894.2(PAX6):c.725-18A>G
|
rs2134615673
|
|
NM_001368894.2(PAX6):c.725-19A>C
|
rs369866279
|
|
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
|
|
|
NM_001368894.2(PAX6):c.741T>C (p.His247=)
|
|
|
NM_001368894.2(PAX6):c.762A>G (p.Arg254=)
|
|
|
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
|
|
|
NM_001368894.2(PAX6):c.807+14G>A
|
rs1404270061
|
|
NM_001368894.2(PAX6):c.808-13A>G
|
|
|
NM_001368894.2(PAX6):c.808-15C>T
|
|
|
NM_001368894.2(PAX6):c.808-18G>A
|
|
|
NM_001368894.2(PAX6):c.808-19T>C
|
|
|
NM_001368894.2(PAX6):c.808-19del
|
|
|
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
|
|
|
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
|
|
|
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
|
|
|
NM_001368894.2(PAX6):c.958+18T>C
|
|
|
NM_001368894.2(PAX6):c.958+18T>G
|
|
|
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
|
|
|
NM_001368894.2(PAX6):c.981C>T (p.Ser327=)
|
rs1042417987
|
|
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
|
|
|
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe)
|
rs869025267
|
|
NM_153427.2(PITX2):c.-1532C>A
|
rs117231596
|
|