NM_001368894.2(PAX6):c.-128-2del
|
rs1131692282
|
|
NM_001368894.2(PAX6):c.-129+2T>A
|
rs878852979
|
|
NM_001368894.2(PAX6):c.-138_-129+3del
|
rs1592654547
|
|
NM_001368894.2(PAX6):c.-52+1G>A
|
rs1592614756
|
|
NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)
|
rs1592410582
|
|
NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer)
|
rs1592409736
|
|
NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs)
|
rs1592409876
|
|
NM_001368894.2(PAX6):c.1075-1G>A
|
rs1592370265
|
|
NM_001368894.2(PAX6):c.1079del (p.Pro360fs)
|
rs1592370052
|
|
NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs)
|
rs1592563333
|
|
NM_001368894.2(PAX6):c.1086dup (p.Ser363fs)
|
rs1592369895
|
|
NM_001368894.2(PAX6):c.109dup (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.11-2A>G
|
rs1592564908
|
|
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)
|
rs121907915
|
|
NM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs)
|
rs1592369407
|
|
NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter)
|
rs1592369500
|
|
NM_001368894.2(PAX6):c.1119del (p.Thr374fs)
|
rs864309681
|
|
NM_001368894.2(PAX6):c.112del (p.Arg38fs)
|
rs1592563428
|
|
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)
|
rs1411880763
|
|
NM_001368894.2(PAX6):c.113_114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)
|
rs1592563240
|
|
NM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs)
|
rs1592367623
|
|
NM_001368894.2(PAX6):c.1211del (p.Gly404fs)
|
rs1592367444
|
|
NM_001368894.2(PAX6):c.121del (p.Asp41fs)
|
rs1592563047
|
|
NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg)
|
rs1131692318
|
|
NM_001368894.2(PAX6):c.1226-1G>C
|
rs1592350356
|
|
NM_001368894.2(PAX6):c.1282dup (p.Met428fs)
|
rs1592349567
|
|
NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs)
|
rs1592348542
|
|
NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)
|
rs1592348901
|
|
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)
|
rs750848278
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.140A>C (p.Gln47Pro)
|
rs1131692289
|
|
NM_001368894.2(PAX6):c.141+4A>T
|
rs1131692290
|
|
NM_001368894.2(PAX6):c.184-1G>A
|
rs1592546566
|
|
NM_001368894.2(PAX6):c.184-1_195dup
|
rs1592546340
|
|
NM_001368894.2(PAX6):c.184-2A>G
|
rs1592546589
|
|
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
|
rs1131692293
|
|
NM_001368894.2(PAX6):c.19G>T (p.Gly7Ter)
|
rs1131692285
|
|
NM_001368894.2(PAX6):c.200T>G (p.Val67Gly)
|
rs1592546273
|
|
NM_001368894.2(PAX6):c.200_201del (p.Val67fs)
|
|
|
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)
|
rs1592546120
|
|
NM_001368894.2(PAX6):c.208del (p.Ile70fs)
|
rs1592546024
|
|
NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter)
|
rs760490431
|
|
NM_001368894.2(PAX6):c.233G>T (p.Gly78Val)
|
rs121907920
|
|
NM_001368894.2(PAX6):c.246dup (p.Arg83fs)
|
rs1592545392
|
|
NM_001368894.2(PAX6):c.288dup (p.Val97fs)
|
rs1592544553
|
|
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer)
|
rs1592544327
|
|
NM_001368894.2(PAX6):c.323del (p.Cys108fs)
|
rs1592543841
|
|
NM_001368894.2(PAX6):c.328_337del (p.Ser110fs)
|
rs1592543499
|
|
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)
|
rs1565246499
|
|
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
|
rs1554985305
|
|
NM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs)
|
rs1592542942
|
|
NM_001368894.2(PAX6):c.367del (p.Glu123fs)
|
rs1592543032
|
|
NM_001368894.2(PAX6):c.372_373dup (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373del (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373dup (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter)
|
rs1592542343
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399_399+5del
|
rs1592542060
|
|
NM_001368894.2(PAX6):c.400-1G>A
|
rs1592532561
|
|
NM_001368894.2(PAX6):c.400-2A>G
|
rs1592532580
|
|
NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter)
|
rs1554985100
|
|
NM_001368894.2(PAX6):c.415dup (p.Arg139fs)
|
rs1592532169
|
|
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs)
|
rs1592532084
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.47_57del (p.Val16fs)
|
rs1592564219
|
|
NM_001368894.2(PAX6):c.4del (p.Gln2fs)
|
rs1592610205
|
|
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
|
rs1554985028
|
|
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
|
rs1592530521
|
|
NM_001368894.2(PAX6):c.517del (p.Arg173fs)
|
rs1592530379
|
|
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)
|
rs1592530126
|
|
NM_001368894.2(PAX6):c.537del (p.Thr180fs)
|
rs1554984996
|
|
NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)
|
rs151086737
|
|
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
|
rs1131692308
|
|
NM_001368894.2(PAX6):c.566-14_567del
|
rs1592435527
|
|
NM_001368894.2(PAX6):c.566-1G>A
|
rs1592435632
|
|
NM_001368894.2(PAX6):c.566-2A>G
|
rs1592435653
|
|
NM_001368894.2(PAX6):c.569del (p.Gly190fs)
|
rs1592435423
|
|
NM_001368894.2(PAX6):c.62del (p.Leu21fs)
|
rs1592564157
|
|
NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)
|
rs1592434096
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.66_75del (p.Asp23fs)
|
rs1592564013
|
|
NM_001368894.2(PAX6):c.677_680del (p.Arg226fs)
|
rs1592433606
|
|
NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)
|
rs1592433545
|
|
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)
|
rs1131692309
|
|
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.807G>C (p.Gln269His)
|
rs1592420967
|
|
NM_001368894.2(PAX6):c.808-1G>A
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.808-1G>C
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)
|
rs1592416453
|
|
NM_001368894.2(PAX6):c.817dup (p.Ser273fs)
|
rs1592416305
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.834del (p.Lys278fs)
|
rs1131692313
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
NM_001368894.2(PAX6):c.843del (p.Glu282fs)
|
rs1592415958
|
|
NM_001368894.2(PAX6):c.846del (p.Glu283fs)
|
rs1592415868
|
|
NM_001368894.2(PAX6):c.854_855del (p.Leu285fs)
|
rs1592415745
|
|
NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)
|
rs1592415563
|
|
NM_001368894.2(PAX6):c.951del (p.Thr318fs)
|
rs1592414464
|
|
NM_001368894.2(PAX6):c.958+1G>A
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.958+1G>C
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.958+1G>T
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.959-1G>C
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.967_968del (p.Phe323fs)
|
rs1592411896
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
|
rs1601610306
|
|
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
|
rs1601613391
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
NM_001429.4(EP300):c.3367del (p.Met1124fs)
|
rs1601624722
|
|
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
|
rs1601624754
|
|
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
|
rs1601634247
|
|
NM_001429.4(EP300):c.494_497del (p.Met165fs)
|
rs1601598354
|
|
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)
|
rs1555912040
|
|
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)
|
rs1601640102
|
|
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
|
rs1601640370
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
|
rs1601642812
|
|
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
|
rs1596948052
|
|
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
|
rs121434625
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
|
rs1596947743
|
|
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
|
rs1596947732
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1216+2T>A
|
rs1596947522
|
|
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
|
rs1596944340
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)
|
rs1596920745
|
|
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
|
rs1596920501
|
|
NM_004380.3(CREBBP):c.1573+1G>A
|
rs1596920360
|
|
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
|
rs1596917200
|
|
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
|
rs1597054837
|
|
NM_004380.3(CREBBP):c.1824-1G>A
|
rs1596910004
|
|
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
|
rs1596909791
|
|
NM_004380.3(CREBBP):c.1941+2T>C
|
rs1596909656
|
|
NM_004380.3(CREBBP):c.2159-1G>T
|
rs1596897799
|
|
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
|
rs1596895500
|
|
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
|
rs1597054662
|
|
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
|
rs1596894889
|
|
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
|
rs1596886295
|
|
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
|
rs1596886132
|
|
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
|
rs1596886048
|
|
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
|
rs1596885894
|
|
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
|
rs1596885651
|
|
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
|
rs1596882629
|
|
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
|
rs1374436403
|
|
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
|
rs1596882124
|
|
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
|
rs1596882010
|
|
NM_004380.3(CREBBP):c.3060+1G>T
|
rs1596882004
|
|
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
|
rs1596878921
|
|
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
|
rs1596878700
|
|
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
|
rs1596856390
|
|
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
|
rs1596856285
|
|
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
|
rs1596856176
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
|
rs1596854369
|
|
NM_004380.3(CREBBP):c.3610-1G>C
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-2A>G
|
rs1596852674
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
|
rs1596852463
|
|
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
|
rs1596852443
|
|
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
|
rs748451307
|
|
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
|
rs1597054242
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
|
rs1596834998
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3914+1G>A
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
|
rs1596813570
|
|
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
|
rs1596812306
|
|
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
|
rs1596812202
|
|
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
|
|
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)
|
rs1555472938
|
|
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4728+2del
|
rs1596803811
|
|
NM_004380.3(CREBBP):c.4890+1G>A
|
rs1596793242
|
|
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
|
rs1597053322
|
|
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
|
rs1596984633
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|
NM_023067.4(FOXL2):c.1103del (p.Gly368fs)
|
rs1559921677
|
|
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu)
|
rs1559922657
|
|
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs)
|
rs1559922628
|
|
NM_023067.4(FOXL2):c.18del (p.Glu7fs)
|
rs1559922829
|
|
NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter)
|
rs1559922476
|
|
NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter)
|
rs1559922472
|
|
NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer)
|
rs1559922473
|
|
NM_023067.4(FOXL2):c.387del (p.Leu130fs)
|
rs1559922470
|
|
NM_023067.4(FOXL2):c.399del (p.Cys134fs)
|
rs1559922462
|
|
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs)
|
rs1559922381
|
|
NM_023067.4(FOXL2):c.525del (p.Cys176fs)
|
rs1559922308
|
|
NM_023067.4(FOXL2):c.52_53del (p.Pro18fs)
|
rs1559922782
|
|
NM_023067.4(FOXL2):c.549dup (p.Asp184fs)
|
rs1559922261
|
|
NM_023067.4(FOXL2):c.551dup (p.Asp184fs)
|
rs1559922257
|
|
NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter)
|
rs759236439
|
|
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)
|
rs764243782
|
|
NM_023067.4(FOXL2):c.669_681del (p.Ala224fs)
|
rs1559922136
|
|
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)
|
rs387906321
|
|
NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs)
|
rs1559922033
|
|
NM_023067.4(FOXL2):c.773del (p.Tyr258fs)
|
rs1559922026
|
|
NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter)
|
rs1559922013
|
|
NM_023067.4(FOXL2):c.804del (p.Gly269fs)
|
rs797044528
|
|
NM_023067.4(FOXL2):c.804dup (p.Gly269fs)
|
rs797044528
|
|
NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter)
|
rs1559921973
|
|
NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs)
|
rs1559921944
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)
|
rs797044532
|
|
NM_023067.4(FOXL2):c.855_871dup (p.His291fs)
|
rs797044532
|
|
NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs)
|
rs1559921874
|
|
NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs)
|
rs1559921800
|
|
NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs)
|
rs1559921849
|
|
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)
|
rs1576469579
|
|
NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs)
|
rs672601358
|
|
NM_023067.4(FOXL2):c.998dup (p.Ala334fs)
|
rs1559921797
|
|