ClinVar Miner

List of variants studied for anterior segment dysgenesis by Invitae

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1273
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_012293.3(PXDN):c.1568-19C>G rs7588627 0.07897
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_012293.3(PXDN):c.1946+6G>A rs73178792 0.05765
NM_012293.3(PXDN):c.2661C>T (p.Ser887=) rs1863134 0.04731
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=) rs6752525 0.03782
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_012293.3(PXDN):c.1182T>C (p.Ser394=) rs76057922 0.01411
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln) rs6723697 0.01353
NM_012293.3(PXDN):c.111G>C (p.Pro37=) rs140134102 0.01330
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=) rs61976956 0.01306
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_012293.3(PXDN):c.4321-16C>T rs113997519 0.01052
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_153426.3(PITX2):c.46+8_46+9insTT rs571056388 0.01006
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=) rs61731247 0.00844
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile) rs61747875 0.00688
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=) rs115076385 0.00686
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu) rs73910815 0.00635
NM_012293.3(PXDN):c.1242G>A (p.Ala414=) rs111448491 0.00609
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) rs79322931 0.00537
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu) rs147066927 0.00460
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_012293.3(PXDN):c.1380G>A (p.Pro460=) rs191647762 0.00406
NM_012293.3(PXDN):c.1018+9C>T rs182152963 0.00400
NM_012293.3(PXDN):c.1113G>A (p.Pro371=) rs200996147 0.00399
NM_012293.3(PXDN):c.1680+19G>A rs201018276 0.00382
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_012293.3(PXDN):c.1392C>T (p.Ile464=) rs61749582 0.00278
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
NM_012293.3(PXDN):c.1176G>T (p.Thr392=) rs140056124 0.00223
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) rs372463004 0.00204
NM_012293.3(PXDN):c.4207-6C>T rs117207020 0.00190
NM_012293.3(PXDN):c.488+8G>C rs142878073 0.00184
NM_001368894.2(PAX6):c.1075-275A>C rs3026392 0.00180
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=) rs767285866 0.00177
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) rs200127189 0.00160
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) rs143712915 0.00134
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) rs775995985 0.00133
NM_012293.3(PXDN):c.648G>A (p.Ala216=) rs183196973 0.00115
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=) rs147851300 0.00114
NM_001453.3(FOXC1):c.207G>T (p.Pro69=) rs35974174 0.00112
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001453.3(FOXC1):c.114C>T (p.Thr38=) rs538126253 0.00104
NM_012293.3(PXDN):c.2283C>T (p.Thr761=) rs201654539 0.00098
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) rs201592851 0.00096
NM_012293.3(PXDN):c.531A>G (p.Thr177=) rs577963506 0.00093
NM_012293.3(PXDN):c.2385G>A (p.Pro795=) rs373265335 0.00091
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn) rs201763004 0.00090
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_012293.3(PXDN):c.3743+9G>A rs184138871 0.00075
NM_012293.3(PXDN):c.969C>T (p.Ala323=) rs61746899 0.00074
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) rs200276592 0.00066
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_001453.3(FOXC1):c.718C>T (p.Leu240=) rs754033600 0.00063
NM_012293.3(PXDN):c.1347C>T (p.Thr449=) rs184142208 0.00063
NM_001453.3(FOXC1):c.1173G>T (p.Gly391=) rs773512259 0.00053
NM_012293.3(PXDN):c.1422C>T (p.Ser474=) rs112778384 0.00051
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=) rs144382074 0.00051
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) rs534479543 0.00050
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
NM_012293.3(PXDN):c.273G>A (p.Leu91=) rs200915485 0.00048
NM_000325.6(PITX2):c.206-9C>T rs367757020 0.00046
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) rs75454260 0.00046
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_012293.3(PXDN):c.921A>G (p.Thr307=) rs117914830 0.00043
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn) rs142371761 0.00039
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_012293.3(PXDN):c.2097C>T (p.Asn699=) rs369631419 0.00036
NM_012293.3(PXDN):c.270A>G (p.Thr90=) rs147536472 0.00036
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_001368894.2(PAX6):c.978C>T (p.Gly326=) rs115833025 0.00035
NM_012293.3(PXDN):c.1443C>A (p.Val481=) rs370752629 0.00033
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=) rs771039137 0.00032
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala) rs201039175 0.00031
NM_012293.3(PXDN):c.730+16C>T rs373245706 0.00031
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) rs560327746 0.00029
NM_001453.3(FOXC1):c.1639G>A (p.Val547Ile) rs570658290 0.00027
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00026
NM_001453.3(FOXC1):c.843G>T (p.Arg281=) rs1006154109 0.00026
NM_012186.3(FOXE3):c.426C>T (p.Gly142=) rs1370214494 0.00025
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) rs527783871 0.00025
NM_000325.6(PITX2):c.206-8G>C rs373965144 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_001453.3(FOXC1):c.171G>C (p.Pro57=) rs188085399 0.00024
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met) rs183629867 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_012186.3(FOXE3):c.405G>A (p.Glu135=) rs574859994 0.00021
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) rs151054868 0.00021
NM_012186.3(FOXE3):c.240C>T (p.Ile80=) rs146608794 0.00020
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) rs202086896 0.00020
NM_001453.3(FOXC1):c.1452C>T (p.His484=) rs749512415 0.00019
NM_012186.3(FOXE3):c.828C>G (p.Pro276=) rs887265865 0.00019
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=) rs369851999 0.00018
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=) rs368271183 0.00018
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=) rs183970787 0.00017
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_001368894.2(PAX6):c.-118T>C rs992201562 0.00016
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00016
NM_012186.3(FOXE3):c.849T>C (p.Ala283=) rs911846788 0.00016
NM_012293.3(PXDN):c.1827C>T (p.Leu609=) rs202108023 0.00016
NM_012293.3(PXDN):c.165G>A (p.Glu55=) rs781119752 0.00015
NM_012293.3(PXDN):c.2787G>A (p.Leu929=) rs753095408 0.00015
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met) rs201077249 0.00015
NM_012293.3(PXDN):c.612G>A (p.Ala204=) rs748974745 0.00015
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_012186.3(FOXE3):c.51T>C (p.Pro17=) rs548368038 0.00014
NM_012293.3(PXDN):c.1596C>T (p.Ser532=) rs375578544 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.3175G>A (p.Ala1059Thr) rs186563338 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_001453.3(FOXC1):c.279C>T (p.Asn93=) rs141798688 0.00012
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met) rs772632642 0.00012
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.1236C>T (p.Ser412=) rs78290542 0.00011
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_001453.3(FOXC1):c.1230C>T (p.Gly410=) rs1176446421 0.00009
NM_001453.3(FOXC1):c.567G>A (p.Leu189=) rs543542572 0.00009
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.11-12C>G rs766046559 0.00008
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001453.3(FOXC1):c.252C>T (p.Ile84=) rs751286982 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_000325.6(PITX2):c.816G>A (p.Ala272=) rs778779105 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.783C>T (p.Asp261=) rs754761427 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.882C>G (p.Ala294=) rs946810051 0.00007
NM_001368894.2(PAX6):c.462C>T (p.Asp154=) rs1800427 0.00006
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser) rs758013827 0.00006
NM_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001453.3(FOXC1):c.9G>T (p.Ala3=) rs779435104 0.00006
NM_012186.3(FOXE3):c.192G>A (p.Arg64=) rs757496166 0.00006
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_012186.3(FOXE3):c.813G>A (p.Leu271=) rs1003802007 0.00006
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu) rs372395551 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_001453.3(FOXC1):c.1170C>G (p.Ala390=) rs908957809 0.00005
NM_001453.3(FOXC1):c.1284G>A (p.Leu428=) rs1201818386 0.00005
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00005
NM_001453.3(FOXC1):c.195G>A (p.Gly65=) rs150084174 0.00005
NM_012186.3(FOXE3):c.135G>A (p.Ala45=) rs886044273 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012293.3(PXDN):c.2394G>A (p.Val798=) rs548975446 0.00005
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) rs995348999 0.00005
NM_001368894.2(PAX6):c.1074+9G>A rs376883598 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001453.3(FOXC1):c.474C>T (p.Ser158=) rs369346224 0.00004
NM_001453.3(FOXC1):c.708G>A (p.Pro236=) rs775979008 0.00004
NM_001453.3(FOXC1):c.915C>T (p.Ser305=) rs570694575 0.00004
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.537G>C (p.Ala179=) rs544902810 0.00004
NM_012186.3(FOXE3):c.585C>G (p.Pro195=) rs890514968 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.837C>T (p.Gly279=) rs752441939 0.00004
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) rs994486517 0.00004
NM_012293.3(PXDN):c.1329C>T (p.Val443=) rs550694319 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.2313C>T (p.Tyr771=) rs370841716 0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu) rs748447804 0.00004
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) rs368223046 0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) rs577701184 0.00004
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln) rs200015827 0.00003
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.807+6G>A rs375134684 0.00003
NM_001368894.2(PAX6):c.959-20G>A rs751109356 0.00003
NM_001368894.2(PAX6):c.959-7C>T rs750093295 0.00003
NM_001453.3(FOXC1):c.1032C>A (p.Ile344=) rs539532417 0.00003
NM_001453.3(FOXC1):c.1074C>T (p.Ser358=) rs747540420 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.132G>A (p.Ala44=) rs1417103494 0.00003
NM_012186.3(FOXE3):c.282G>A (p.Leu94=) rs762854169 0.00003
NM_012186.3(FOXE3):c.378C>T (p.Asn126=) rs556872254 0.00003
NM_012186.3(FOXE3):c.492C>T (p.Arg164=) rs747963189 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_012186.3(FOXE3):c.777G>A (p.Pro259=) rs1045485277 0.00003
NM_012293.3(PXDN):c.1018+10G>A rs972175216 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.1131G>A (p.Ser377=) rs369447790 0.00002
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser) rs141021880 0.00002
NM_001368894.2(PAX6):c.717G>A (p.Leu239=) rs766564648 0.00002
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu) rs759150602 0.00002
NM_001453.3(FOXC1):c.1017C>T (p.Ser339=) rs770183159 0.00002
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381 0.00002
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=) rs759491792 0.00002
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg) rs998203463 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.147C>T (p.His49=) rs1400944385 0.00002
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser) rs1032706802 0.00002
NM_001453.3(FOXC1):c.735C>T (p.Ala245=) rs1455631339 0.00002
NM_001453.3(FOXC1):c.786C>T (p.Ser262=) rs1284573981 0.00002
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser) rs769224835 0.00002
NM_001453.3(FOXC1):c.864G>A (p.Ala288=) rs1477621509 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.291C>G (p.Ile97Met) rs762006562 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.543G>T (p.Gly181=) rs765016567 0.00002
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) rs777536289 0.00002
NM_012186.3(FOXE3):c.570C>T (p.Pro190=) rs1182253342 0.00002
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) rs1035206433 0.00002
NM_012186.3(FOXE3):c.876G>A (p.Pro292=) rs1646890706 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.2592C>T (p.Pro864=) rs552146038 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.1020C>T (p.Tyr340=) rs786205467 0.00001
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr) rs749992296 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.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.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.1282A>G (p.Met428Val) rs541260494 0.00001
NM_001368894.2(PAX6):c.141+1G>A rs1554985714 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.243A>G (p.Arg81=) rs771974160 0.00001
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 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_001453.3(FOXC1):c.1038C>G (p.Pro346=) rs1355905429 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=) rs1011576688 0.00001
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup) rs1762557230 0.00001
NM_001453.3(FOXC1):c.1386C>T (p.His462=) rs1413952291 0.00001
NM_001453.3(FOXC1):c.144G>T (p.Ser48=) rs112885689 0.00001
NM_001453.3(FOXC1):c.1575G>T (p.Gly525=) rs139877144 0.00001
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=) rs747055801 0.00001
NM_001453.3(FOXC1):c.1638C>T (p.Phe546=) rs1327937746 0.00001
NM_001453.3(FOXC1):c.306C>T (p.Asn102=) rs750797555 0.00001
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser) rs1311597906 0.00001
NM_001453.3(FOXC1):c.333C>T (p.Arg111=) rs547414473 0.00001
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099 0.00001
NM_001453.3(FOXC1):c.375C>T (p.Ser125=) rs765626020 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.498C>T (p.Ser166=) rs1199147210 0.00001
NM_001453.3(FOXC1):c.570C>T (p.His190=) rs1199142990 0.00001
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe) rs1762529243 0.00001
NM_001453.3(FOXC1):c.600G>C (p.Gln200His) rs549370363 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.660C>T (p.Pro220=) rs1438325732 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.114G>A (p.Gly38=) rs1305763469 0.00001
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) rs958293767 0.00001
NM_012186.3(FOXE3):c.171C>A (p.Pro57=) rs1303056091 0.00001
NM_012186.3(FOXE3):c.181del (p.Arg61fs) rs1646883385 0.00001
NM_012186.3(FOXE3):c.183G>C (p.Arg61=) rs1646883402 0.00001
NM_012186.3(FOXE3):c.258C>T (p.His86=) rs1225853707 0.00001
NM_012186.3(FOXE3):c.324C>T (p.Tyr108=) rs370268389 0.00001
NM_012186.3(FOXE3):c.343_347del (p.Trp115fs) rs958241794 0.00001
NM_012186.3(FOXE3):c.411C>A (p.Gly137=) rs536267128 0.00001
NM_012186.3(FOXE3):c.420C>T (p.Gly140=) rs1352061807 0.00001
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) rs747148416 0.00001
NM_012186.3(FOXE3):c.447C>G (p.Pro149=) rs1344716602 0.00001
NM_012186.3(FOXE3):c.489C>T (p.Arg163=) rs754808758 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012186.3(FOXE3):c.579C>G (p.Pro193=) rs1174698590 0.00001
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) rs1646887555 0.00001
NM_012186.3(FOXE3):c.624G>C (p.Pro208=) rs1400982636 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.711G>T (p.Pro237=) rs1177501502 0.00001
NM_012186.3(FOXE3):c.741C>T (p.Ala247=) rs1369565616 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.804C>T (p.Arg268=) rs1332275509 0.00001
NM_012186.3(FOXE3):c.819G>A (p.Ala273=) rs1035152511 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_012186.3(FOXE3):c.930C>T (p.Gly310=) rs963646314 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
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=) rs544242132 0.00001
NM_012293.3(PXDN):c.3768G>C (p.Val1256=) rs746169929 0.00001
NM_012293.3(PXDN):c.639G>A (p.Ser213=) rs778985833 0.00001
NM_012293.3(PXDN):c.750C>T (p.Ser250=) rs762530703 0.00001
NC_000001.10:g.(?_47716808)_(47882947_?)dup
NC_000001.11:g.47416279_47416517del rs2124040836
NC_000002.11:g.(?_1748008)_(1748227_?)dup
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.11:g.(?_111539281)_(111554154_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NC_000006.11:g.(?_1609367)_(1610939_?)del
NC_000006.11:g.(?_1610666)_(1612017_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)dup
NC_000006.12:g.(?_1610426)_(1612841_?)del
NC_000011.10:g.(?_31664397)_(31794829_?)del
NC_000011.10:g.(?_31789914)_(31790880_?)del
NC_000011.10:g.(?_31789914)_(31794829_?)del
NC_000011.10:g.(?_31789934)_(31806411_?)del
NC_000011.10:g.(?_31794610)_(31794829_?)del
NC_000011.9:g.(?_31284590)_(31824402_?)del
NC_000011.9:g.(?_31284590)_(31832374_?)del
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_31625295)_(31822424_?)del
NC_000011.9:g.(?_31804921)_(31812428_?)del
NC_000011.9:g.(?_31804921)_(31816356_?)del
NC_000011.9:g.(?_31804921)_(31816377_?)del
NC_000011.9:g.(?_31814966)_(31816356_?)del
NC_000011.9:g.(?_31815560)_(31824402_?)del
NC_000011.9:g.(?_31822233)_(31823148_?)del
NC_000011.9:g.(?_31824326)_(31832375_?)del
NM_000280.4(PAX6):c.358delG rs886042838
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
NM_000325.6(PITX2):c.264del (p.Lys89fs) rs1729007624
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) rs2110435742
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter) rs1051887
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.373del (p.Ile125fs) rs1729001104
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr) rs2110435645
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) rs1729000976
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
NM_000325.6(PITX2):c.489C>T (p.Phe163=)
NM_000325.6(PITX2):c.515del (p.Gln172fs)
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) rs1728873590
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.588A>C (p.Leu196=)
NM_000325.6(PITX2):c.592A>T (p.Thr198Ser) rs2110431786
NM_000325.6(PITX2):c.633C>T (p.Pro211=)
NM_000325.6(PITX2):c.634C>T (p.Leu212=)
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer) rs2110431524
NM_000325.6(PITX2):c.927G>A (p.Pro309=)
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.-120_-118dup
NM_001368894.2(PAX6):c.-128-2del rs1131692282
NM_001368894.2(PAX6):c.-129+2T>A rs878852979
NM_001368894.2(PAX6):c.-52+1del rs1955943115
NM_001368894.2(PAX6):c.10+11C>A
NM_001368894.2(PAX6):c.10+13G>A
NM_001368894.2(PAX6):c.10+1635_70del
NM_001368894.2(PAX6):c.10+1G>A
NM_001368894.2(PAX6):c.10+5G>T
NM_001368894.2(PAX6):c.10+7G>A rs2135296029
NM_001368894.2(PAX6):c.10+7G>T rs2135296029
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
NM_001368894.2(PAX6):c.1009del (p.Thr337fs) rs1950537152
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs) rs1950522383
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs) rs1565245835
NM_001368894.2(PAX6):c.102del (p.His34fs)
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
NM_001368894.2(PAX6):c.1061del (p.Asn354fs) rs2134574071
NM_001368894.2(PAX6):c.1074+16G>A
NM_001368894.2(PAX6):c.1074+1G>C rs1950507886
NM_001368894.2(PAX6):c.1074+3_1074+6del rs2134572801
NM_001368894.2(PAX6):c.1074+4A>G
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1074+8C>T
NM_001368894.2(PAX6):c.1075-2A>G rs794726661
NM_001368894.2(PAX6):c.1075-3C>A
NM_001368894.2(PAX6):c.1075-8C>T
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile) rs1346292898
NM_001368894.2(PAX6):c.1086del (p.Ser363fs) rs1592369895
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
NM_001368894.2(PAX6):c.109del (p.Ala37fs) rs1057517780
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.1102_1106dup (p.Cys370fs) rs1554982609
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) rs397514640
NM_001368894.2(PAX6):c.112del (p.Arg38fs) rs1592563428
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
NM_001368894.2(PAX6):c.114del (p.Pro39fs)
NM_001368894.2(PAX6):c.114dup (p.Pro39fs) rs1565245598
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.115_116dup (p.Cys40fs) rs1592563240
NM_001368894.2(PAX6):c.1166dup (p.His390fs) rs756801119
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
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.117del (p.Cys40fs)
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.120C>A (p.Cys40Ter) rs1329112134
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.1225+5G>A rs1592366898
NM_001368894.2(PAX6):c.1225+5G>T
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg) rs1131692318
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.124A>C (p.Ile42Leu)
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs) rs1554982299
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe) rs1592562836
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter) rs1554985716
NM_001368894.2(PAX6):c.141+19C>T
NM_001368894.2(PAX6):c.141+3G>A
NM_001368894.2(PAX6):c.141+3G>C rs369243018
NM_001368894.2(PAX6):c.141+9C>G rs1194088876
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.184-3C>T rs2135101861
NM_001368894.2(PAX6):c.184-5T>C
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu) rs1131692284
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val) rs1190491499
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter) rs760490431
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs) rs1953961273
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
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.255C>T (p.Ile85=)
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys) rs1565239425
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln) rs2135096558
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu) rs2135096558
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu) rs886042622
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
NM_001368894.2(PAX6):c.27dup (p.Gln10fs)
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter) rs1954553083
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala) rs2135095172
NM_001368894.2(PAX6):c.306C>G (p.Ala102=) rs1160160301
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter) rs1131692297
NM_001368894.2(PAX6):c.318G>A (p.Arg106=) rs1953919512
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu) rs2135091755
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
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.349C>T (p.Arg117Ter) rs121907914
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg) rs1565246499
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
NM_001368894.2(PAX6):c.358_359insA (p.Leu120fs) rs1953896100
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)
NM_001368894.2(PAX6):c.35del (p.Gly12fs) rs1592564672
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
NM_001368894.2(PAX6):c.373del (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.373dup (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs) rs2135088191
NM_001368894.2(PAX6):c.399+10_399+11del rs2135085957
NM_001368894.2(PAX6):c.399+18A>G
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399+1G>C rs398123295
NM_001368894.2(PAX6):c.399+2T>C rs2135086958
NM_001368894.2(PAX6):c.399+3A>T rs2135086830
NM_001368894.2(PAX6):c.399+4A>T rs1554985282
NM_001368894.2(PAX6):c.399+9A>G
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile) rs1554986754
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195
NM_001368894.2(PAX6):c.400-18T>G
NM_001368894.2(PAX6):c.400-2A>T rs1592532580
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) rs1554985100
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser) rs1231578758
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs) rs1592532084
NM_001368894.2(PAX6):c.417del (p.Val140fs) rs2135051167
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) rs121907919
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro) rs1592531953
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) rs1131692304
NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)
NM_001368894.2(PAX6):c.456C>T (p.Gly152=) rs1304237286
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys) rs201983312
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
NM_001368894.2(PAX6):c.47del (p.Val16fs)
NM_001368894.2(PAX6):c.483del (p.Met162fs) rs2135047165
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp) rs1299258202
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter) rs1953513506
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)
NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del) rs1592564313
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) rs1554985028
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
NM_001368894.2(PAX6):c.512del (p.Gly171fs) rs1554985024
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp) rs1592530260
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.52G>A (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
NM_001368894.2(PAX6):c.532_536del (p.Pro178fs) rs1953470546
NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu) rs954552997
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
NM_001368894.2(PAX6):c.537del (p.Thr180fs) rs1554984996
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.553C>T (p.Gln185Ter) rs1131692308
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
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.560del (p.Thr187fs)
NM_001368894.2(PAX6):c.565+17C>T
NM_001368894.2(PAX6):c.566-1G>T
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu) rs2135152943
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs) rs1554983577
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) rs1554983571
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.591G>A (p.Gly197=)
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs) rs1954534591
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu) rs1954533614
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) rs1592433640
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)
NM_001368894.2(PAX6):c.690del (p.Phe231fs) rs2134656843
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter) rs1131692309
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter) rs2134655427
NM_001368894.2(PAX6):c.714C>T (p.Ala238=) rs1554983496
NM_001368894.2(PAX6):c.720del (p.Glu242fs) rs2134654635
NM_001368894.2(PAX6):c.724+14del rs772158967
NM_001368894.2(PAX6):c.724+16A>G
NM_001368894.2(PAX6):c.724+1G>A
NM_001368894.2(PAX6):c.724+20T>C
NM_001368894.2(PAX6):c.724+3G>A
NM_001368894.2(PAX6):c.724+7G>C
NM_001368894.2(PAX6):c.724+8_724+9del
NM_001368894.2(PAX6):c.725-14A>G
NM_001368894.2(PAX6):c.725-18A>G rs2134615673
NM_001368894.2(PAX6):c.725-19A>C rs369866279
NM_001368894.2(PAX6):c.725-8T>A
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
NM_001368894.2(PAX6):c.741T>C (p.His247=)
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.762A>G (p.Arg254=)
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) rs121907913
NM_001368894.2(PAX6):c.787_807+102del
NM_001368894.2(PAX6):c.78del (p.Gln27fs) rs1131692286
NM_001368894.2(PAX6):c.790_806del (p.Pro264fs) rs2134609949
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
NM_001368894.2(PAX6):c.802_807+9del rs2134609369
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg) rs2134610066
NM_001368894.2(PAX6):c.803dup (p.Gln269fs)
NM_001368894.2(PAX6):c.807+14G>A rs1404270061
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
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.808-1G>C rs1592416538
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu) rs779126789
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter) rs1592416453
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
NM_001368894.2(PAX6):c.817dup (p.Ser273fs) rs1592416305
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) rs1950629763
NM_001368894.2(PAX6):c.829del (p.Ala277fs) rs2134595824
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) rs1554983229
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
NM_001368894.2(PAX6):c.893dup (p.His298fs)
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
NM_001368894.2(PAX6):c.939dup (p.Pro314fs)
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala) rs1326972158
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.958+1G>A rs1057517783
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-3_959-2del
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg) rs1954518916
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
NM_001368894.2(PAX6):c.981C>T (p.Ser327=) rs1042417987
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785
NM_001368894.2(PAX6):c.992dup (p.Thr332fs)
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)
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.104_105insT (p.Gly36fs)
NM_001453.3(FOXC1):c.104del (p.Gly35fs)
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=) rs1364012338
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.1113G>T (p.Ala371=) rs1762548215
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[7] (p.Gly380dup) 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.1137C>T (p.Gly379=)
NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
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.1149_1158dup (p.Ala387fs)
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.1157dup (p.Ala387fs)
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.1179C>G (p.Tyr393Ter)
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)
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.1245G>C (p.Ala415=)
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.1299G>A (p.Leu433=)
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.1326G>A (p.Ser442=)
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)
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.1338CGG[10] (p.Gly455_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
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.135dup (p.Val46fs)
NM_001453.3(FOXC1):c.1362G>C (p.Gly454=)
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)
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.1399C>T (p.Gln467Ter) rs1297907614
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter) rs372857241
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter) rs1408057194
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del) rs747574884
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.1509C>T (p.Asn503=)
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)
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.159C>G (p.Ala53=)
NM_001453.3(FOXC1):c.159C>T (p.Ala53=) rs374448293
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.163C>T (p.Gln55Ter)
NM_001453.3(FOXC1):c.173del (p.Gly58fs)
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.18C>G (p.Ser6=) rs1363320651
NM_001453.3(FOXC1):c.18C>T (p.Ser6=)
NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)
NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala) rs1762519905
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser) rs1554100945
NM_001453.3(FOXC1):c.244dup (p.Ser82fs) rs2113111289
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)
NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del) rs2113111322
NM_001453.3(FOXC1):c.261C>T (p.Ile87=)
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro) rs1762520834
NM_001453.3(FOXC1):c.264C>T (p.Thr88=)
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro) rs2113111355
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)
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.301_331del (p.Leu101fs) rs1762521548
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)
NM_001453.3(FOXC1):c.309C>T (p.Gly103=)
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)
NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile) rs748064350
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys) rs1581373749
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter) rs1762522833
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys) rs1762523183
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys) rs562467758
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter) rs2230096
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
NM_001453.3(FOXC1):c.451dup (p.Tyr151fs) rs1762525473
NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)
NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup) rs1183655796
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp) rs1581373890
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln) rs2113111855
NM_001453.3(FOXC1):c.51del (p.Tyr18fs) rs2113110720
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
NM_001453.3(FOXC1):c.534C>T (p.Asp178=) rs755160620
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly) rs752984586
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)
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.564G>A (p.Arg188=)
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln) rs1227876001
NM_001453.3(FOXC1):c.573C>T (p.Leu191=) rs545282380
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.591C>T (p.Pro197=) rs761021950
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.639G>T (p.Ala213=)
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.684C>A (p.Thr228=)
NM_001453.3(FOXC1):c.693T>C (p.Gly231=)
NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter) rs2113112422
NM_001453.3(FOXC1):c.712dup (p.Gln238fs) rs1762534894
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)
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.736C>T (p.Leu246=) rs1282700439
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.752_759del (p.Ala251fs) rs1762536800
NM_001453.3(FOXC1):c.753C>T (p.Ala251=) rs1554100998
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>G (p.Ala252=)
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter) rs1554101000
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.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)
NM_001453.3(FOXC1):c.796dup (p.Ser266fs)
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His) rs2113112684
NM_001453.3(FOXC1):c.804C>G (p.Ser268=) rs1040137792
NM_001453.3(FOXC1):c.807C>T (p.Ser269=)
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
NM_001453.3(FOXC1):c.819C>A (p.Pro273=) rs931714808
NM_001453.3(FOXC1):c.81_100del (p.Ala28fs) rs2113110795
NM_001453.3(FOXC1):c.821dup (p.Ser276fs) rs2113112720
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001453.3(FOXC1):c.846G>A (p.Pro282=) rs1261991191
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr) rs775681400
NM_001453.3(FOXC1):c.873G>A (p.Ala291=)
NM_001453.3(FOXC1):c.888G>T (p.Ala296=)
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
NM_001453.3(FOXC1):c.906G>T (p.Pro302=) rs1262103111
NM_001453.3(FOXC1):c.90C>G (p.Ala30=) rs1333340503
NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)
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.930G>A (p.Val310=)
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
NM_001453.3(FOXC1):c.936C>T (p.Asn312=)
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
NM_001453.3(FOXC1):c.957del (p.Ser320fs) rs1241813534
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)
NM_001453.3(FOXC1):c.975C>T (p.Ala325=)
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.993C>T (p.Gly331=)
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
NM_012186.3(FOXE3):c.105C>T (p.Ala35=) rs1646882637
NM_012186.3(FOXE3):c.115C>A (p.Arg39=)
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.138T>C (p.Ala46=) rs1031196506
NM_012186.3(FOXE3):c.144C>G (p.Arg48=) rs1646883029
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)
NM_012186.3(FOXE3):c.150G>A (p.Glu50=)
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) rs1366587048
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
NM_012186.3(FOXE3):c.165C>G (p.Pro55=)
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.177G>C (p.Pro59=)
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.180G>A (p.Gly60=)
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)
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) rs1646883579
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
NM_012186.3(FOXE3):c.21_24del (p.Met7fs) rs1464817302
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) rs1646882092
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) rs1289511554
NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) rs2124042280
NM_012186.3(FOXE3):c.285C>G (p.Ala95=)
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
NM_012186.3(FOXE3):c.2del (p.Met1fs) rs2124041028
NM_012186.3(FOXE3):c.306C>T (p.Thr102=)
NM_012186.3(FOXE3):c.309A>G (p.Glu103=) rs2124042422
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
NM_012186.3(FOXE3):c.315T>C (p.Phe105=) rs2124042461
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
NM_012186.3(FOXE3):c.327C>A (p.Arg109=) rs2124042503
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) rs779654261
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg) rs2124042559
NM_012186.3(FOXE3):c.348G>A (p.Gln116=) rs774479548
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) rs1646884682
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro) rs2124042635
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu) rs2124042660
NM_012186.3(FOXE3):c.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer)
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
NM_012186.3(FOXE3):c.408G>A (p.Pro136=)
NM_012186.3(FOXE3):c.408G>C (p.Pro136=) rs780736595
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) rs373777806
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
NM_012186.3(FOXE3):c.438G>A (p.Thr146=)
NM_012186.3(FOXE3):c.453C>G (p.Ala151=)
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) rs1389713794
NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.519C>A (p.Pro173=) rs577539007
NM_012186.3(FOXE3):c.519C>T (p.Pro173=)
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) rs2124043258
NM_012186.3(FOXE3):c.534G>A (p.Ala178=)
NM_012186.3(FOXE3):c.535del (p.Ala179fs)
NM_012186.3(FOXE3):c.552C>T (p.Leu184=)
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) rs2124043406
NM_012186.3(FOXE3):c.555dup (p.Phe186fs) rs1465921700
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
NM_012186.3(FOXE3):c.55C>T (p.Leu19=)
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1]) rs768610152
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
NM_012186.3(FOXE3):c.576G>A (p.Ala192=) rs2124043529
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
NM_012186.3(FOXE3):c.636G>T (p.Pro212=) rs1289906223
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
NM_012186.3(FOXE3):c.666G>A (p.Leu222=) rs959738363
NM_012186.3(FOXE3):c.669G>T (p.Val223=)
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) rs1255205439
NM_012186.3(FOXE3):c.681G>A (p.Pro227=)
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile) rs2124043930
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
NM_012186.3(FOXE3):c.696G>C (p.Leu232=)
NM_012186.3(FOXE3):c.6G>C (p.Ala2=) rs928328635
NM_012186.3(FOXE3):c.6G>T (p.Ala2=)
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
NM_012186.3(FOXE3):c.705C>G (p.Pro235=)
NM_012186.3(FOXE3):c.705del (p.Glu236fs)
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)
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)
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
NM_012186.3(FOXE3):c.729C>T (p.Pro243=)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
NM_012186.3(FOXE3):c.756C>G (p.Pro252=)
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del) rs761938618
NM_012186.3(FOXE3):c.75G>C (p.Ser25=) rs1327386935
NM_012186.3(FOXE3):c.75G>T (p.Ser25=)
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
NM_012186.3(FOXE3):c.774C>T (p.Ser258=)
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu) rs2124041379
NM_012186.3(FOXE3):c.780A>G (p.Pro260=)
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
NM_012186.3(FOXE3):c.789G>A (p.Ser263=) rs1252974267
NM_012186.3(FOXE3):c.798C>G (p.Pro266=)
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
NM_012186.3(FOXE3):c.801C>T (p.Asp267=)
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) rs1351111614
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
NM_012186.3(FOXE3):c.831C>A (p.Gly277=) rs527783871
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) rs886042525
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.84G>A (p.Pro28=) rs2124041428
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) rs1184373895
NM_012186.3(FOXE3):c.855C>T (p.Pro285=)
NM_012186.3(FOXE3):c.861G>A (p.Leu287=) rs1570406069
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
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.927G>A (p.Pro309=) rs1338427430
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs) rs2124045053
NM_012186.3(FOXE3):c.942G>T (p.Gly314=) rs1295698690
NM_012186.3(FOXE3):c.943C>T (p.Leu315=) rs1473311737
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
NM_012186.3(FOXE3):c.96C>T (p.Leu32=)
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) rs1646882579
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
NM_012293.3(PXDN):c.1284C>T (p.Ile428=)
NM_012293.3(PXDN):c.1383G>A (p.Pro461=)
NM_012293.3(PXDN):c.1386C>T (p.Pro462=)
NM_012293.3(PXDN):c.1408+15G>A
NM_012293.3(PXDN):c.1408+8_1408+9dup
NM_012293.3(PXDN):c.1409-16G>A
NM_012293.3(PXDN):c.1409-16G>T
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser) rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) rs773445177
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
NM_012293.3(PXDN):c.2172C>T (p.Thr724=) rs368483848
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.2350del (p.His784fs) rs2125412042
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter) rs1316655042
NM_012293.3(PXDN):c.243A>G (p.Ala81=) rs1572164777
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2569del (p.Cys857fs) rs1408683917
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg) rs769171499
NM_012293.3(PXDN):c.2640C>G (p.Arg880=) rs79442404
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
NM_012293.3(PXDN):c.272+18A>G
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) rs1863135
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
NM_012293.3(PXDN):c.2821G>A (p.Val941Met) rs189824177
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter) rs2125411312
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=) rs147695468
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
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.3441A>G (p.Ala1147=) rs773884838
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln)
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=) rs375049627
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=) rs2125410277
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=) rs377271958
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) rs111450110
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) rs367602205
NM_012293.3(PXDN):c.3953-5T>C
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
NM_012293.3(PXDN):c.417-7C>T
NM_012293.3(PXDN):c.4206+15G>A
NM_012293.3(PXDN):c.4320+10G>A
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
NM_012293.3(PXDN):c.657G>A (p.Ala219=) rs764442724
NM_012293.3(PXDN):c.717A>G (p.Glu239=) rs2125441165
NM_012293.3(PXDN):c.730+15dup
NM_012293.3(PXDN):c.730+18C>T
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
NM_012293.3(PXDN):c.831C>A (p.Ile277=) rs1553362974
NM_012293.3(PXDN):c.849-8C>T
NM_012293.3(PXDN):c.873T>C (p.Asp291=)
NM_019040.5(ELP4):c.*2022_*2023del rs777790874

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