NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)
|
rs759557055
|
0.00001
|
NM_001368894.2(PAX6):c.1075-3C>G
|
rs886044223
|
|
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu)
|
rs1592563636
|
|
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val)
|
rs1592563636
|
|
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
|
rs397514640
|
|
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del)
|
rs1592562717
|
|
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser)
|
rs1592562910
|
|
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
|
rs1592562836
|
|
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro)
|
rs1592545972
|
|
NM_001368894.2(PAX6):c.216C>T (p.Gly72=)
|
rs763807196
|
|
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)
|
rs759557055
|
|
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro)
|
rs769095184
|
|
NM_001368894.2(PAX6):c.375C>A (p.Val125=)
|
rs1592542705
|
|
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)
|
rs1592542273
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
|
NM_001368894.2(PAX6):c.425G>A (p.Arg142His)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys)
|
rs1388158419
|
|
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala)
|
rs1592564366
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.723A>G (p.Lys241=)
|
rs1592433022
|
|
NM_001368894.2(PAX6):c.725-5T>C
|
rs1592421981
|
|
NM_001368894.2(PAX6):c.725-9C>G
|
rs1592422097
|
|
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val)
|
rs1592563721
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)
|
rs1596854023
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)
|
rs1057519207
|
|
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)
|
rs1596805792
|
|
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn)
|
rs1559922647
|
|
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp)
|
rs1057516142
|
|
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp)
|
rs1559922634
|
|
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)
|
rs863225452
|
|
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn)
|
rs1315073489
|
|
NM_023067.4(FOXL2):c.193A>G (p.Met65Val)
|
rs1559922621
|
|
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro)
|
rs1559922577
|
|
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile)
|
rs1559922558
|
|
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg)
|
rs1226344391
|
|
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp)
|
rs1559922528
|
|
NM_023067.4(FOXL2):c.311A>G (p.His104Arg)
|
rs1057516153
|
|
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)
|
rs1057516154
|
|
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del)
|
rs1559922498
|
|
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)
|
rs1057516160
|
|
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)
|
rs797044527
|
|