NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)
|
rs201039175
|
0.00031
|
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg)
|
rs560327746
|
0.00029
|
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val)
|
rs865901577
|
0.00026
|
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met)
|
rs183629867
|
0.00024
|
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser)
|
rs775345164
|
0.00017
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp)
|
rs373022614
|
0.00014
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met)
|
rs370226454
|
0.00013
|
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)
|
rs371739601
|
0.00013
|
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala)
|
rs919121619
|
0.00012
|
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met)
|
rs772632642
|
0.00012
|
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr)
|
rs535065221
|
0.00011
|
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr)
|
rs916755482
|
0.00009
|
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu)
|
rs371048362
|
0.00009
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu)
|
rs886043447
|
0.00008
|
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)
|
rs1030716081
|
0.00008
|
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser)
|
rs1213749118
|
0.00008
|
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val)
|
rs767729842
|
0.00007
|
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg)
|
rs901581290
|
0.00007
|
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser)
|
rs758013827
|
0.00006
|
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu)
|
rs372395551
|
0.00006
|
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly)
|
rs756037576
|
0.00005
|
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)
|
rs995348999
|
0.00005
|
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly)
|
rs768651099
|
0.00004
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly)
|
rs372281087
|
0.00004
|
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu)
|
rs745950487
|
0.00004
|
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr)
|
rs886379083
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr)
|
rs921860618
|
0.00004
|
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser)
|
rs994486517
|
0.00004
|
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His)
|
rs368890003
|
0.00004
|
NM_012293.3(PXDN):c.1680+6C>T
|
rs930569592
|
0.00004
|
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu)
|
rs748447804
|
0.00004
|
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)
|
rs577701184
|
0.00004
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
0.00003
|
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr)
|
rs281865460
|
0.00003
|
NM_001453.3(FOXC1):c.532G>C (p.Asp178His)
|
rs751970827
|
0.00003
|
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg)
|
rs1277775861
|
0.00003
|
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg)
|
rs1226906213
|
0.00003
|
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg)
|
rs780276474
|
0.00003
|
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu)
|
rs575642508
|
0.00003
|
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)
|
rs376902965
|
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_001453.3(FOXC1):c.1154G>A (p.Gly385Glu)
|
rs1215019381
|
0.00002
|
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser)
|
rs772035500
|
0.00002
|
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)
|
rs908841297
|
0.00002
|
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser)
|
rs1032706802
|
0.00002
|
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser)
|
rs769224835
|
0.00002
|
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe)
|
rs775681400
|
0.00002
|
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys)
|
rs900562270
|
0.00002
|
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu)
|
rs751816743
|
0.00002
|
NM_012186.3(FOXE3):c.19A>G (p.Met7Val)
|
rs1300297197
|
0.00002
|
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln)
|
rs768674287
|
0.00002
|
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala)
|
rs768612848
|
0.00002
|
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu)
|
rs754614447
|
0.00002
|
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val)
|
rs777536289
|
0.00002
|
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser)
|
rs1037554225
|
0.00002
|
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln)
|
rs1308848565
|
0.00002
|
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)
|
rs769037467
|
0.00002
|
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)
|
rs567182921
|
0.00002
|
NM_000325.6(PITX2):c.916G>A (p.Val306Met)
|
rs760790139
|
0.00001
|
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)
|
rs571758306
|
0.00001
|
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)
|
rs749992296
|
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.1282A>G (p.Met428Val)
|
rs541260494
|
0.00001
|
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser)
|
rs867806300
|
0.00001
|
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup)
|
rs1762557230
|
0.00001
|
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser)
|
rs1311597906
|
0.00001
|
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg)
|
rs759264099
|
0.00001
|
NM_001453.3(FOXC1):c.37C>G (p.Leu13Val)
|
rs1245309163
|
0.00001
|
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)
|
rs1581373871
|
0.00001
|
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe)
|
rs1762529243
|
0.00001
|
NM_001453.3(FOXC1):c.605C>A (p.Pro202Gln)
|
rs1288507437
|
0.00001
|
NM_001453.3(FOXC1):c.646C>A (p.Pro216Thr)
|
rs1419864390
|
0.00001
|
NM_001453.3(FOXC1):c.673G>A (p.Asp225Asn)
|
rs747618420
|
0.00001
|
NM_001453.3(FOXC1):c.695C>T (p.Thr232Met)
|
rs1762534255
|
0.00001
|
NM_001453.3(FOXC1):c.746G>T (p.Gly249Val)
|
rs936269544
|
0.00001
|
NM_001453.3(FOXC1):c.836C>T (p.Ser279Leu)
|
rs1255472143
|
0.00001
|
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser)
|
rs1331057949
|
0.00001
|
NM_001453.3(FOXC1):c.986G>C (p.Ser329Thr)
|
rs748832697
|
0.00001
|
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg)
|
rs958293767
|
0.00001
|
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys)
|
rs747148416
|
0.00001
|
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro)
|
rs1401137576
|
0.00001
|
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln)
|
rs1646887555
|
0.00001
|
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg)
|
rs1304716566
|
0.00001
|
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val)
|
rs1646888269
|
0.00001
|
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr)
|
rs911732099
|
0.00001
|
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser)
|
rs1170907926
|
0.00001
|
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp)
|
rs1189285117
|
0.00001
|
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly)
|
rs956520813
|
0.00001
|
NM_012186.3(FOXE3):c.854C>A (p.Pro285His)
|
rs1184373895
|
0.00001
|
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu)
|
rs1570406106
|
0.00001
|
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr)
|
rs1085307504
|
0.00001
|
NM_012293.3(PXDN):c.1650C>T (p.Gly550=)
|
rs753678349
|
0.00001
|
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)
|
rs755097189
|
0.00001
|
NM_012293.3(PXDN):c.1885G>A (p.Val629Met)
|
rs770134392
|
0.00001
|
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln)
|
rs748238090
|
0.00001
|
NM_012293.3(PXDN):c.2369A>T (p.His790Leu)
|
rs1682956712
|
0.00001
|
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe)
|
rs757055936
|
0.00001
|
NC_000001.10:g.(?_47716808)_(47882947_?)dup
|
|
|
NC_000001.11:g.47416279_47416517del
|
rs2124040836
|
|
NC_000002.11:g.(?_1748008)_(1748227_?)dup
|
|
|
NC_000006.11:g.(?_1610681)_(1612342_?)dup
|
|
|
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
|
|
|
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
|
|
|
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr)
|
rs2110435645
|
|
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
|
|
|
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)
|
rs104893859
|
|
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
|
|
|
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
|
|
|
NM_001368894.2(PAX6):c.-120_-118dup
|
|
|
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+4A>G
|
|
|
NM_001368894.2(PAX6):c.1074+6T>C
|
|
|
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.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.184-3C>T
|
rs2135101861
|
|
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
|
|
|
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
|
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
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.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.280A>G (p.Thr94Ala)
|
|
|
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala)
|
rs2135095172
|
|
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+3A>T
|
rs2135086830
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
|
|
|
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
|
rs1231578758
|
|
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.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.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.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.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.65C>T (p.Pro22Leu)
|
rs1954533614
|
|
NM_001368894.2(PAX6):c.724+20T>C
|
|
|
NM_001368894.2(PAX6):c.724+3G>A
|
|
|
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>T (p.Val270Leu)
|
rs779126789
|
|
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
|
|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
|
|
|
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_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
|
|
|
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
|
|
|
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
|
|
|
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
|
|
|
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)
|
|
|
NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser)
|
rs888646491
|
|
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)
|
|
|
NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)
|
|
|
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
|
|
|
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg)
|
rs897755884
|
|
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
|
|
|
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
|
|
|
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
|
|
|
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
|
|
|
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)
|
|
|
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)
|
|
|
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)
|
|
|
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)
|
|
|
NM_001453.3(FOXC1):c.1124GCG[3] (p.Gly378_Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[8] (p.Gly379_Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)
|
|
|
NM_001453.3(FOXC1):c.1145G>A (p.Gly382Glu)
|
|
|
NM_001453.3(FOXC1):c.1148C>G (p.Ala383Gly)
|
|
|
NM_001453.3(FOXC1):c.1148_1156del (p.Ala383_Gly385del)
|
rs975290027
|
|
NM_001453.3(FOXC1):c.1155_1163del (p.386GAG[1])
|
|
|
NM_001453.3(FOXC1):c.1157G>C (p.Gly386Ala)
|
rs1411477778
|
|
NM_001453.3(FOXC1):c.1159G>C (p.Ala387Pro)
|
|
|
NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)
|
|
|
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3])
|
rs1462344492
|
|
NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)
|
|
|
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
|
|
|
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
|
|
|
NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)
|
|
|
NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)
|
|
|
NM_001453.3(FOXC1):c.1231C>T (p.His411Tyr)
|
rs2113114171
|
|
NM_001453.3(FOXC1):c.1231_1254del (p.His411_Gly418del)
|
|
|
NM_001453.3(FOXC1):c.1235T>G (p.Leu412Trp)
|
|
|
NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)
|
|
|
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val)
|
rs1056318557
|
|
NM_001453.3(FOXC1):c.1262G>A (p.Gly421Asp)
|
|
|
NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)
|
|
|
NM_001453.3(FOXC1):c.1288G>A (p.Asp430Asn)
|
rs2113114322
|
|
NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)
|
|
|
NM_001453.3(FOXC1):c.129C>T (p.Pro43=)
|
|
|
NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)
|
|
|
NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)
|
|
|
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del)
|
rs1208223684
|
|
NM_001453.3(FOXC1):c.1336C>G (p.His446Asp)
|
rs2113114444
|
|
NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)
|
|
|
NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)
|
|
|
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla)
|
rs1203559520
|
|
NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)
|
|
|
NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)
|
|
|
NM_001453.3(FOXC1):c.1399C>G (p.Gln467Glu)
|
|
|
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
|
|
|
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
|
|
|
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.1464GGC[8] (p.Ala495_Gly496insAlaAla)
|
|
|
NM_001453.3(FOXC1):c.1482_1484dup (p.Ala495_Gly496insAla)
|
|
|
NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)
|
|
|
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)
|
|
|
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)
|
|
|
NM_001453.3(FOXC1):c.155A>G (p.His52Arg)
|
|
|
NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)
|
|
|
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs)
|
rs1762565496
|
|
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser)
|
rs1481638796
|
|
NM_001453.3(FOXC1):c.1612T>C (p.Ser538Pro)
|
|
|
NM_001453.3(FOXC1):c.1631G>A (p.Gly544Glu)
|
|
|
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)
|
|
|
NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)
|
|
|
NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)
|
|
|
NM_001453.3(FOXC1):c.185G>A (p.Arg62His)
|
|
|
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala)
|
rs1762519905
|
|
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
|
|
|
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
|
|
|
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)
|
rs1554100945
|
|
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro)
|
rs1762520834
|
|
NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)
|
|
|
NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)
|
|
|
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)
|
|
|
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)
|
|
|
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)
|
|
|
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)
|
|
|
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile)
|
rs748064350
|
|
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)
|
rs1581373749
|
|
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
|
|
|
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
|
|
|
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys)
|
rs1762523183
|
|
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
|
|
|
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
|
|
|
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
|
|
|
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
|
|
|
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
|
|
|
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
|
|
|
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del)
|
rs2113111795
|
|
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
|
|
|
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
|
|
|
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
|
|
|
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln)
|
rs2113111855
|
|
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
|
|
|
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly)
|
rs752984586
|
|
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
|
|
|
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
|
|
|
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del)
|
rs774823663
|
|
NM_001453.3(FOXC1):c.553G>C (p.Glu185Gln)
|
|
|
NM_001453.3(FOXC1):c.556A>G (p.Lys186Glu)
|
|
|
NM_001453.3(FOXC1):c.556_558del (p.Lys186del)
|
rs1486212361
|
|
NM_001453.3(FOXC1):c.559G>A (p.Asp187Asn)
|
|
|
NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)
|
|
|
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln)
|
rs1227876001
|
|
NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)
|
|
|
NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)
|
|
|
NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)
|
|
|
NM_001453.3(FOXC1):c.602C>A (p.Pro201His)
|
rs1762531102
|
|
NM_001453.3(FOXC1):c.603_614del (p.Pro203_Pro206del)
|
rs1762531002
|
|
NM_001453.3(FOXC1):c.608C>T (p.Pro203Leu)
|
|
|
NM_001453.3(FOXC1):c.609_614del (p.Ala204_Pro205del)
|
|
|
NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)
|
|
|
NM_001453.3(FOXC1):c.617C>G (p.Pro206Arg)
|
rs1245295588
|
|
NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys)
|
rs932770511
|
|
NM_001453.3(FOXC1):c.623A>G (p.Gln208Arg)
|
|
|
NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)
|
|
|
NM_001453.3(FOXC1):c.642C>A (p.Pro214=)
|
|
|
NM_001453.3(FOXC1):c.647C>A (p.Pro216Gln)
|
rs1762532606
|
|
NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)
|
|
|
NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)
|
|
|
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
|
|
|
NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)
|
|
|
NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)
|
|
|
NM_001453.3(FOXC1):c.735_758del (p.Leu246_Ala253del)
|
|
|
NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)
|
|
|
NM_001453.3(FOXC1):c.736_759del (p.Leu246_Ala253del)
|
|
|
NM_001453.3(FOXC1):c.740_754del (p.Gly247_Ala251del)
|
|
|
NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)
|
|
|
NM_001453.3(FOXC1):c.750C>G (p.Ser250Arg)
|
|
|
NM_001453.3(FOXC1):c.751G>A (p.Ala251Thr)
|
|
|
NM_001453.3(FOXC1):c.754G>A (p.Ala252Thr)
|
rs2113112550
|
|
NM_001453.3(FOXC1):c.755C>T (p.Ala252Val)
|
rs1259243589
|
|
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
|
|
|
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
|
|
|
NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)
|
|
|
NM_001453.3(FOXC1):c.782A>G (p.Asp261Gly)
|
|
|
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del)
|
rs761199025
|
|
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup)
|
rs761199025
|
|
NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)
|
|
|
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His)
|
rs2113112684
|
|
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
|
|
|
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
|
|
|
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
|
|
|
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr)
|
rs775681400
|
|
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
|
|
|
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)
|
rs774848608
|
|
NM_001453.3(FOXC1):c.927C>A (p.Ser309Arg)
|
rs1762541775
|
|
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
|
|
|
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
|
|
|
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
|
|
|
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
|
|
|
NM_001453.3(FOXC1):c.976G>T (p.Ala326Ser)
|
|
|
NM_001453.3(FOXC1):c.979G>A (p.Glu327Lys)
|
rs2113113220
|
|
NM_001453.3(FOXC1):c.991G>A (p.Gly331Ser)
|
rs1242365822
|
|
NM_001453.3(FOXC1):c.991G>C (p.Gly331Arg)
|
|
|
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
|
|
|
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
|
|
|
NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala)
|
rs886042841
|
|
NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)
|
|
|
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
|
|
|
NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)
|
|
|
NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del)
|
rs1415958869
|
|
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
|
|
|
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser)
|
rs1366587048
|
|
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
|
|
|
NM_012186.3(FOXE3):c.167C>T (p.Ala56Val)
|
rs2124041820
|
|
NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)
|
|
|
NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)
|
|
|
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp)
|
rs1646883301
|
|
NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)
|
|
|
NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup)
|
rs775343166
|
|
NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)
|
|
|
NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)
|
|
|
NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)
|
|
|
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
|
|
|
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
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NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
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NM_012186.3(FOXE3):c.204G>C (p.Gln68His)
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rs1646883579
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NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
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NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
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NM_012186.3(FOXE3):c.22G>C (p.Asp8His)
|
rs1646882092
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NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
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NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
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NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp)
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rs1289511554
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NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
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NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
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NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser)
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rs2124042280
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NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
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NM_012186.3(FOXE3):c.2del (p.Met1fs)
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rs2124041028
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NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
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NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)
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rs755377651
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NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
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NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
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NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
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NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
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NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
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NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro)
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rs779654261
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NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg)
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rs2124042559
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NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)
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rs1057518737
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NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
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NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys)
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rs1646884682
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NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro)
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rs2124042635
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NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
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NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
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NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser)
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rs373777806
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NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
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NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
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NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
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NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys)
|
rs1389713794
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NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
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NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser)
|
rs1391534565
|
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NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
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NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
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NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
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NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
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NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
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NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
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NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu)
|
rs2124043406
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NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
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NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
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NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1])
|
rs768610152
|
|
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])
|
rs768610152
|
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NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
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NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
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NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1])
|
rs1336140217
|
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NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
|
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NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
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NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
|
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NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
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NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
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NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
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NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
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NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys)
|
rs1255205439
|
|
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile)
|
rs2124043930
|
|
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
|
|
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NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
|
|
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NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
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NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
|
|
|
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser)
|
rs1646888724
|
|
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser)
|
rs1327526761
|
|
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)
|
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NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
|
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NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
|
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NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
|
|
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NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
|
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|
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del)
|
rs761938618
|
|
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
|
|
|
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
|
|
|
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu)
|
rs2124041379
|
|
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
|
|
|
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
|
|
|
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
|
|
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NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
|
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NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
|
|
|
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro)
|
rs1351111614
|
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NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
|
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|
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
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NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
|
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NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
|
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NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
|
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|
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
|
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|
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer)
|
rs1476879051
|
|
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu)
|
rs1184373895
|
|
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
|
|
|
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
|
|
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NM_012186.3(FOXE3):c.877dup (p.Ala293fs)
|
|
|
NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)
|
|
|
NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr)
|
|
|
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
|
|
|
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)
|
|
|
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg)
|
|
|
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
|
|
|
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs)
|
rs2124045053
|
|
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
|
|
|
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr)
|
rs1646882579
|
|
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
|
|
|
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
|
|
|
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser)
|
rs2125425458
|
|
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
|
|
|
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
|
|
|
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile)
|
rs773445177
|
|
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
|
|
|
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
|
|
|
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys)
|
rs2125412247
|
|
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
|
|
|
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg)
|
rs769171499
|
|
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
|
|
|
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
|
|
|
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
|
|
|
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
|
|
|
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu)
|
rs2125500995
|
|
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
|
|
|
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
|
|
|
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
|
|
|
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)
|
rs367602205
|
|
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
|
|
|
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
|
|
|
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
|
|
|
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
|
|
|
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
|
|
|
NM_019040.5(ELP4):c.*2022_*2023del
|
rs777790874
|
|