ClinVar Miner

List of variants reported as uncertain significance for autosomal anomaly

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2378
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00297
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00099
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_001002295.2(GATA3):c.-495G>C rs556347150 0.00030
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu) rs201187772 0.00030
NM_001002295.2(GATA3):c.*575A>C rs552915242 0.00029
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_001002295.2(GATA3):c.*383T>G rs116910852 0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His) rs777568201 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_001002295.2(GATA3):c.*952G>A rs773450577 0.00014
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_016111.4(TELO2):c.238C>A (p.His80Asn) rs199863486 0.00014
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) rs374947324 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_024426.6(WT1):c.343C>T (p.Pro115Ser) rs916583720 0.00011
NM_032322.4(RNF135):c.857G>A (p.Arg286His) rs121918162 0.00011
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile) rs146031838 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024426.6(WT1):c.421C>T (p.Pro141Ser) rs750548251 0.00009
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_001002295.2(GATA3):c.*656G>A rs929190496 0.00008
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser) rs1161083244 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_001002295.2(GATA3):c.-40G>A rs201178566 0.00006
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) rs768570356 0.00006
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu) rs151167488 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser) rs368524494 0.00006
NM_024426.6(WT1):c.121C>T (p.Pro41Ser) rs926668379 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024426.6(WT1):c.29C>T (p.Ala10Val) rs997104313 0.00006
NM_024426.6(WT1):c.689C>T (p.Thr230Met) rs777166391 0.00006
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001378120.1(MBD5):c.370G>C (p.Val124Leu) rs751595371 0.00005
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val) rs572436251 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_024426.6(WT1):c.730T>A (p.Phe244Ile) rs771455202 0.00005
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) rs756787389 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_001002295.2(GATA3):c.*857A>T rs886047304 0.00004
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00004
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile) rs376249586 0.00004
NM_002397.5(MEF2C):c.34A>G (p.Met12Val) rs965091526 0.00004
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00004
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile) rs775272837 0.00004
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) rs770541943 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro) rs750785772 0.00004
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) rs878855086 0.00004
NM_024426.6(WT1):c.925A>G (p.Met309Val) rs754336808 0.00004
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser) rs1194767470 0.00004
NM_144997.7(FLCN):c.716G>A (p.Arg239His) rs753948488 0.00004
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00004
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_001002295.2(GATA3):c.*105A>G rs886047300 0.00003
NM_001002295.2(GATA3):c.*746C>T rs545858251 0.00003
NM_001002295.2(GATA3):c.-369-11C>T rs886047297 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile) rs1201673032 0.00003
NM_001172509.2(SATB2):c.2182G>C (p.Ala728Pro) rs377368865 0.00003
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) rs959566693 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro) rs775791197 0.00003
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) rs367876435 0.00003
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val) rs398124343 0.00003
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val) rs796052721 0.00003
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp) rs1276079664 0.00003
NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg) rs769480362 0.00003
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg) rs184415910 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu) rs907317201 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln) rs727504000 0.00003
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) rs373234696 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) rs774169673 0.00003
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) rs539453877 0.00003
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) rs770120153 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys) rs1172760612 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_024426.6(WT1):c.397C>A (p.Pro133Thr) rs1202603651 0.00003
NM_024426.6(WT1):c.419C>T (p.Pro140Leu) rs1164390603 0.00003
NM_024426.6(WT1):c.475G>A (p.Glu159Lys) rs768165877 0.00003
NM_024426.6(WT1):c.661+6T>C rs557166021 0.00003
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter) rs121918161 0.00003
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg) rs150439088 0.00003
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) rs369115472 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553 0.00003
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser) rs774491699 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr) rs769250170 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_001002295.2(GATA3):c.*1029C>T rs530772797 0.00002
NM_001002295.2(GATA3):c.*1072C>A rs886047306 0.00002
NM_001002295.2(GATA3):c.-561G>T rs1486145282 0.00002
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) rs749900784 0.00002
NM_001002295.2(GATA3):c.605G>A (p.Arg202His) rs767671768 0.00002
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) rs778421571 0.00002
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala) rs764552856 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val) rs114251920 0.00002
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser) rs749574412 0.00002
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) rs759990854 0.00002
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser) rs1358383505 0.00002
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 0.00002
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val) rs150408488 0.00002
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) rs774999439 0.00002
NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg) rs781432636 0.00002
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala) rs764468729 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) rs139042949 0.00002
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe) rs780774076 0.00002
NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe) rs774820392 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro) rs745715010 0.00002
NM_002397.5(MEF2C):c.1100+3A>G rs779821248 0.00002
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.360-8T>C rs376081850 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_016628.5(WAC):c.140G>A (p.Arg47Gln) rs374821442 0.00002
NM_016628.5(WAC):c.367A>C (p.Lys123Gln) rs949649739 0.00002
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) rs780179136 0.00002
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser) rs760029045 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) rs753389957 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala) rs778841211 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln) rs772590420 0.00002
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln) rs144788858 0.00002
NM_024426.6(WT1):c.146G>T (p.Gly49Val) rs1475923286 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.248C>T (p.Ala83Val) rs1278102757 0.00002
NM_024426.6(WT1):c.406C>A (p.Pro136Thr) rs748045691 0.00002
NM_024426.6(WT1):c.586G>A (p.Gly196Ser) rs756501972 0.00002
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) rs753112302 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.736A>G (p.Asn246Asp) rs1285224919 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_024426.6(WT1):c.806C>G (p.Pro269Arg) rs756078681 0.00002
NM_024426.6(WT1):c.830C>T (p.Thr277Ile) rs138073760 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321 0.00002
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala) rs766801011 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00002
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
NM_001002295.2(GATA3):c.*267G>A rs886047301 0.00001
NM_001002295.2(GATA3):c.*320T>C rs1003189936 0.00001
NM_001002295.2(GATA3):c.-148A>G rs886047299 0.00001
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) rs150229374 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074 0.00001
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp) rs761676499 0.00001
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) rs752779081 0.00001
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) rs766774125 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr) rs754385480 0.00001
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr) rs1294387707 0.00001
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn) rs1329250891 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr) rs770212471 0.00001
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu) rs746076990 0.00001
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val) rs1367720345 0.00001
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp) rs377609161 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr) rs372032415 0.00001
NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly) rs140532313 0.00001
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His) rs778160560 0.00001
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys) rs372822699 0.00001
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu) rs1689785051 0.00001
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val) rs746240750 0.00001
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser) rs1371535617 0.00001
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile) rs777062011 0.00001
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg) rs1176416627 0.00001
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile) rs767767817 0.00001
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg) rs200620268 0.00001
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala) rs1473042227 0.00001
NM_001172509.2(SATB2):c.772A>G (p.Met258Val) rs200074373 0.00001
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala) rs1410113037 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) rs757748286 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser) rs755505551 0.00001
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile) rs1201462027 0.00001
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) rs142661175 0.00001
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) rs990365646 0.00001
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) rs766571687 0.00001
NM_001378120.1(MBD5):c.1420A>G (p.Met474Val) rs577567411 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) rs116235310 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser) rs1277304345 0.00001
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) rs1370214658 0.00001
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) rs750882049 0.00001
NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser) rs775494046 0.00001
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg) rs398124342 0.00001
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp) rs112334672 0.00001
NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala) rs142431261 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val) rs1417817158 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) rs747127657 0.00001
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg) rs528789050 0.00001
NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg) rs1442226073 0.00001
NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr) rs1031639264 0.00001
NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr) rs921434746 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr) rs778118780 0.00001
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) rs777686665 0.00001
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser) rs768601611 0.00001
NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys) rs865860163 0.00001
NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu) rs369612300 0.00001
NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys) rs1446479503 0.00001
NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr) rs756231796 0.00001
NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala) rs139911474 0.00001
NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr) rs1286239142 0.00001
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp) rs1216163190 0.00001
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) rs756065878 0.00001
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) rs780490918 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val) rs1346667597 0.00001
NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn) rs748689212 0.00001
NM_001378120.1(MBD5):c.2795A>G (p.His932Arg) rs140228960 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile) rs776251206 0.00001
NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr) rs1681324168 0.00001
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys) rs758196921 0.00001
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) rs1553520435 0.00001
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser) rs373177231 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn) rs1037868450 0.00001
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val) rs767306594 0.00001
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg) rs760629404 0.00001
NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly) rs773278945 0.00001
NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser) rs1312513915 0.00001
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) rs749348330 0.00001
NM_001378120.1(MBD5):c.428C>T (p.Ala143Val) rs750151785 0.00001
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile) rs1411318062 0.00001
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val) rs1400713495 0.00001
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) rs142913108 0.00001
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp) rs370659853 0.00001
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg) rs747948310 0.00001
NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser) rs755983540 0.00001
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys) rs764472472 0.00001
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn) rs755214586 0.00001
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val) rs1470442862 0.00001
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) rs763299719 0.00001
NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys) rs1395912880 0.00001
NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn) rs780805788 0.00001
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) rs770196931 0.00001
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met) rs957554797 0.00001
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) rs750291645 0.00001
NM_001378120.1(MBD5):c.5036+6C>T rs372049573 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly) rs1243468520 0.00001
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met) rs757256547 0.00001
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu) rs1680672960 0.00001
NM_001378120.1(MBD5):c.742G>C (p.Asp248His) rs753529014 0.00001
NM_001378120.1(MBD5):c.801C>G (p.His267Gln) rs747135508 0.00001
NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe) rs776894242 0.00001
NM_001378120.1(MBD5):c.83G>A (p.Arg28His) rs201699340 0.00001
NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu) rs1411303556 0.00001
NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr) rs200561241 0.00001
NM_001378120.1(MBD5):c.962T>C (p.Met321Thr) rs140978568 0.00001
NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln) rs760694122 0.00001
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr) rs778783316 0.00001
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr) rs753156153 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 0.00001
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser) rs1366038563 0.00001
NM_002397.5(MEF2C):c.544A>G (p.Met182Val) rs1250885583 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu) rs777826971 0.00001
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) rs1553242966 0.00001
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) rs1205547665 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) rs371364235 0.00001
NM_006940.6(SOX5):c.1226C>A (p.Pro409His) rs1565958110 0.00001
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser) rs764767423 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_016628.5(WAC):c.31C>T (p.Leu11Phe) rs139935489 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_022455.5(NSD1):c.108A>G (p.Gln36=) rs549091873 0.00001
NM_022455.5(NSD1):c.1237-10T>C rs587784070 0.00001
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys) rs587784074 0.00001
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) rs1215568879 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn) rs1763231304 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) rs368345846 0.00001
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) rs766184697 0.00001
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn) rs781142476 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg) rs1442977122 0.00001
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) rs587784090 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu) rs1021852466 0.00001
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) rs111638717 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile) rs1249385869 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) rs1765619618 0.00001
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) rs1251583221 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val) rs1766327804 0.00001
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu) rs1766333203 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) rs746925986 0.00001
NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile) rs759106773 0.00001
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) rs746726463 0.00001
NM_022455.5(NSD1):c.5892+6A>G rs1231700818 0.00001
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His) rs1401142770 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu) rs769699822 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly) rs1406542990 0.00001
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) rs587784216 0.00001
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093 0.00001
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) rs1388409083 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990 0.00001
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn) rs748112905 0.00001
NM_024426.6(WT1):c.1016+4A>C rs776489080 0.00001
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys) rs547783372 0.00001
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro) rs1362066206 0.00001
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp) rs769934402 0.00001
NM_024426.6(WT1):c.109G>A (p.Gly37Arg) rs1397886023 0.00001
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys) rs150194429 0.00001
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser) rs544966826 0.00001
NM_024426.6(WT1):c.1113+5G>A rs930795675 0.00001
NM_024426.6(WT1):c.1114-7C>A rs1396821797 0.00001
NM_024426.6(WT1):c.1117G>A (p.Val373Met) rs747377024 0.00001
NM_024426.6(WT1):c.112G>C (p.Val38Leu) rs1229949294 0.00001
NM_024426.6(WT1):c.1135G>A (p.Val379Ile) rs755936509 0.00001
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp) rs765218093 0.00001
NM_024426.6(WT1):c.116G>A (p.Arg39Gln) rs1590411426 0.00001
NM_024426.6(WT1):c.1198T>C (p.Tyr400His) rs746353651 0.00001
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu) rs1060501258 0.00001
NM_024426.6(WT1):c.1210A>C (p.Asn404His) rs774976881 0.00001
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr) rs748864758 0.00001
NM_024426.6(WT1):c.122C>T (p.Pro41Leu) rs773550149 0.00001
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.133T>C (p.Trp45Arg) rs1186470250 0.00001
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu) rs533043871 0.00001
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln) rs139893274 0.00001
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly) rs776256676 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.149C>A (p.Ala50Asp) rs967658170 0.00001
NM_024426.6(WT1):c.1513G>C (p.Val505Leu) rs1399910889 0.00001
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) rs1212035248 0.00001
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter) rs866837692 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.172C>G (p.Leu58Val) rs1412425868 0.00001
NM_024426.6(WT1):c.200C>G (p.Ser67Cys) rs1327516147 0.00001
NM_024426.6(WT1):c.202G>A (p.Gly68Arg) rs1353446740 0.00001
NM_024426.6(WT1):c.211C>A (p.Pro71Thr) rs1392405207 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.231C>A (p.Asp77Glu) rs1193574882 0.00001
NM_024426.6(WT1):c.262G>A (p.Val88Ile) rs1410971862 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.284G>T (p.Gly95Val) rs1454795891 0.00001
NM_024426.6(WT1):c.286G>A (p.Gly96Ser) rs1060501254 0.00001
NM_024426.6(WT1):c.304A>G (p.Ser102Gly) rs1336319420 0.00001
NM_024426.6(WT1):c.311C>G (p.Ala104Gly) rs1044394214 0.00001
NM_024426.6(WT1):c.326C>G (p.Pro109Arg) rs1853459569 0.00001
NM_024426.6(WT1):c.32C>G (p.Ser11Cys) rs1412950681 0.00001
NM_024426.6(WT1):c.341C>A (p.Ala114Glu) rs1311557029 0.00001
NM_024426.6(WT1):c.34A>C (p.Thr12Pro) rs764111950 0.00001
NM_024426.6(WT1):c.350G>A (p.Gly117Asp) rs939385459 0.00001
NM_024426.6(WT1):c.352G>C (p.Ala118Pro) rs1253163678 0.00001
NM_024426.6(WT1):c.355T>C (p.Ser119Pro) rs1187111469 0.00001
NM_024426.6(WT1):c.380C>G (p.Pro127Arg) rs1387576357 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.392C>G (p.Pro131Arg) rs1443423967 0.00001
NM_024426.6(WT1):c.404C>T (p.Pro135Leu) rs769642496 0.00001
NM_024426.6(WT1):c.412C>T (p.Pro138Ser) rs544477985 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.440A>G (p.Gln147Arg) rs764552529 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.489C>A (p.Ser163Arg) rs908414065 0.00001
NM_024426.6(WT1):c.499G>A (p.Val167Ile) rs1474496518 0.00001
NM_024426.6(WT1):c.53C>T (p.Ala18Val) rs1853481284 0.00001
NM_024426.6(WT1):c.566C>T (p.Pro189Leu) rs745879965 0.00001
NM_024426.6(WT1):c.584C>G (p.Ser195Cys) rs778194188 0.00001
NM_024426.6(WT1):c.595A>G (p.Arg199Gly) rs1307678573 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024426.6(WT1):c.627C>G (p.Ser209Arg) rs761530541 0.00001
NM_024426.6(WT1):c.641A>C (p.Gln214Pro) rs771024882 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.650T>G (p.Ile217Ser) rs1853431800 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.662G>A (p.Gly221Asp) rs369444006 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.710C>T (p.Pro237Leu) rs760776653 0.00001
NM_024426.6(WT1):c.71G>A (p.Arg24His) rs1330792627 0.00001
NM_024426.6(WT1):c.724G>A (p.Ala242Thr) rs1590395740 0.00001
NM_024426.6(WT1):c.761C>T (p.Pro254Leu) rs1213160959 0.00001
NM_024426.6(WT1):c.763A>G (p.Met255Val) rs142653301 0.00001
NM_024426.6(WT1):c.76G>A (p.Gly26Arg) rs1189241211 0.00001
NM_024426.6(WT1):c.771G>T (p.Gln257His) rs1853140764 0.00001
NM_024426.6(WT1):c.77G>A (p.Gly26Glu) rs1484558172 0.00001
NM_024426.6(WT1):c.803T>G (p.Val268Gly) rs765230888 0.00001
NM_024426.6(WT1):c.815T>C (p.Val272Ala) rs1298646630 0.00001
NM_024426.6(WT1):c.832C>G (p.Pro278Ala) rs773527284 0.00001
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) rs751641518 0.00001
NM_024426.6(WT1):c.850G>A (p.Gly284Ser) rs1271732325 0.00001
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr) rs992227366 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.973G>A (p.Ala325Thr) rs1712081462 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_024426.6(WT1):c.980G>A (p.Ser327Asn) rs1308955642 0.00001
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile) rs1907708509 0.00001
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) rs756399764 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu) rs1313891453 0.00001
NM_144997.7(FLCN):c.1315G>A (p.Val439Met) rs112980409 0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.1709G>A (p.Arg570His) rs201056799 0.00001
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys) rs778275358 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu) rs773648142 0.00001
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr) rs746556970 0.00001
NM_144997.7(FLCN):c.251G>T (p.Gly84Val) rs1386417463 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu) rs1040675580 0.00001
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys) rs765251703 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln) rs756807584 0.00001
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr) rs370074267 0.00001
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys) rs371401039 0.00001
NM_144997.7(FLCN):c.748C>A (p.Leu250Met) rs898441209 0.00001
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) rs748031634 0.00001
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) rs770027312 0.00001
GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
NC_000002.11:g.(?_149216308)_(149270530_?)dup
NC_000002.11:g.(?_200136914)_(200298257_?)dup
NC_000002.11:g.(?_200136934)_(200246563_?)dup
NC_000002.11:g.(?_200173463)_(200320780_?)dup
NC_000002.11:g.(?_200245067)_(200320760_?)dup
NC_000005.9:g.(?_175158654)_(179263593_?)dup
NC_000005.9:g.(?_176618865)_(177036696_?)dup
NC_000011.10:g.(?_32416480)_(32417664_?)del
NC_000011.9:g.(?_32410594)_(32421600_?)dup
NC_000011.9:g.(?_32410604)_(32410745_?)dup
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.102C>A (p.His34Gln) rs779654897
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro) rs1907131144
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) rs1597597683
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.433dup (p.Leu145fs) rs1567698872
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_001002295.2(GATA3):c.*264_*265dup rs3839918
NM_001002295.2(GATA3):c.*265dup rs3839918
NM_001002295.2(GATA3):c.*356G>A rs886047302
NM_001002295.2(GATA3):c.*588C>A rs1832985629
NM_001002295.2(GATA3):c.*592G>A rs1832985780
NM_001002295.2(GATA3):c.*598G>A rs187150410
NM_001002295.2(GATA3):c.*647A>G rs563624409
NM_001002295.2(GATA3):c.*714G>A rs886047303
NM_001002295.2(GATA3):c.*747G>A rs899862408
NM_001002295.2(GATA3):c.*863T>A rs1832990708
NM_001002295.2(GATA3):c.*895T>G rs886047305
NM_001002295.2(GATA3):c.-287G>A rs886047298
NM_001002295.2(GATA3):c.-370+28dup rs397846644
NM_001002295.2(GATA3):c.-413C>T rs540527013
NM_001002295.2(GATA3):c.-503_-502dup rs60098638
NM_001002295.2(GATA3):c.-80C>T rs569360560
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) rs1832975214
NM_001002295.2(GATA3):c.257G>A (p.Arg86His) rs1245137314
NM_001002295.2(GATA3):c.273T>A (p.His91Gln) rs2131488207
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) rs148835259
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser) rs148835259
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) rs143582578
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
NM_001002295.2(GATA3):c.924+3_924+6del
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) rs1716385543
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) rs2108976523
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
NM_001145512.2(NFIA):c.104+5G>C rs992223479
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile) rs1688727085
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys) rs1341868380
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val) rs1574510913
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp) rs775219160
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu) rs1306994967
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala) rs2105795391
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr) rs1402503767
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu) rs1692259118
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val) rs765116524
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val) rs1057524205
NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys) rs2105769188
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His) rs1574492405
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His) rs2105769137
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)
NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys) rs2105707604
NM_001172509.2(SATB2):c.1754A>G (p.Gln585Arg) rs1692196085
NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys) rs2105707521
NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)
NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)
NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys) rs2105707260
NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)
NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)
NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu) rs1559136030
NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)
NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)
NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)
NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)
NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys) rs1559135904
NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)
NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)
NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)
NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys) rs1574458712
NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly) rs2105706602
NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile) rs1286415699
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr) rs531933724
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln) rs2105706499
NM_001172509.2(SATB2):c.2167del (p.Ser723fs)
NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val) rs767329844
NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys) rs1489038642
NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr) rs373319001
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln) rs530118484
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu) rs1559052032
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr) rs1182083147
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001172509.2(SATB2):c.700+6del rs1574554422
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys) rs752232729
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser) rs2105823534
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser) rs768080548
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe) rs759677622
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu) rs1574645369
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu) rs2105823252
NM_001172509.2(SATB2):c.917T>A (p.Leu306His) rs1688732391
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro) rs1167005463
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001378120.1(MBD5):c.1010C>A (p.Pro337His)
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu) rs748307129
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del) rs1388983985
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His) rs1406381561
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe) rs2105629006
NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn) rs1335443686
NM_001378120.1(MBD5):c.1084G>C (p.Asp362His) rs1335443686
NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg)
NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn)
NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser)
NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)
NM_001378120.1(MBD5):c.113+5G>A
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly) rs1680696075
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu)
NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly) rs1311216238
NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del) rs1559086500
NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr) rs1574460069
NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile)
NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile) rs1559086508
NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr)
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg) rs1680702734
NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg) rs1352167434
NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn) rs2105631080
NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu) rs2105631231
NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser) rs2105631326
NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala)
NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr) rs2105631414
NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)
NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg) rs1247282095
NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro)
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) rs2105632032
NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys) rs796052709
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del) rs1680710056
NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu)
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser)
NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn) rs1680712001
NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile) rs778427674
NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser)
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu)
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala) rs762417251
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu) rs113472052
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu) rs1300246516
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro) rs1414607857
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys) rs1553518618
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn) rs2105635382
NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp) rs750365107
NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met) rs2105635656
NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe)
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met)
NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp)
NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe)
NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)
NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu)
NM_001378120.1(MBD5):c.1706A>G (p.His569Arg)
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe) rs540723139
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser) rs1302791673
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del) rs780715275
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)
NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr) rs1036713038
NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile) rs1680731400
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala) rs779256872
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile) rs1475773218
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)
NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu) rs139953766
NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser)
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly)
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln) rs1280684603
NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr)
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) rs755862882
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg) rs766104877
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile)
NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe)
NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)
NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu) rs1680739908
NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp)
NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp)
NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu)
NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys)
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala) rs1394309796
NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe) rs2105639837
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys)
NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn)
NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn)
NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)
NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg)
NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys) rs143584574
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu) rs781532539
NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr)
NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser) rs2105581271
NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr) rs1060501150
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His) rs1574462092
NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe)
NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) rs2105642407
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile) rs1187810931
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) rs1680753685
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)
NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg) rs1413186409
NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met)
NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile)
NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu) rs2105643339
NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met) rs1574462288
NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu) rs1559083055
NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu) rs2105643462
NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys) rs954814725
NM_001378120.1(MBD5):c.2518+6G>A
NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala) rs2105071209
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del) rs1681214533
NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg)
NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup) rs2105071357
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu) rs2105071391
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro) rs2105071445
NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val)
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) rs144557654
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) rs2105071741
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile) rs1681217722
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr) rs755990856
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe) rs116207524
NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) rs753164504
NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn) rs1559094826
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val) rs2105072567
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
NM_001378120.1(MBD5):c.268G>A (p.Val90Ile) rs1329667912
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser) rs2105073027
NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys)
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr) rs1681223936
NM_001378120.1(MBD5):c.2736C>A (p.His912Gln) rs756653034
NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu)
NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)
NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)
NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys)
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg) rs1706964102
NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile) rs1341554170
NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr) rs1559083106
NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met) rs1553517962
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
NM_001378120.1(MBD5):c.3545-3T>C
NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn)
NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr) rs1681317802
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys) rs1559096615
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) rs1200329763
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile) rs750939401
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg) rs1681321643
NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del) rs2105093794
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)
NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr)
NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys) rs2105094167
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) rs1429887811
NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val) rs1681325771
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) rs1435405119
NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr) rs1386609853
NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr) rs1559096858
NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro)
NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)
NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro)
NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys) rs1064796473
NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val) rs1681443164
NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser) rs1553520432
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile) rs2105123807
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) rs1681444814
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro) rs963277503
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) rs796052715
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) rs1352862206
NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys) rs1172686822
NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala) rs1707177360
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
NM_001378120.1(MBD5):c.398-3C>T
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His) rs1681454577
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser) rs886054912
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)
NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp) rs2105126261
NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)
NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser)
NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg) rs2105126294
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val) rs1363547537
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg) rs1559098890
NM_001378120.1(MBD5):c.413T>C (p.Val138Ala) rs2105622190
NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)
NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)
NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys) rs758083193
NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp)
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn) rs2105127714
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala)
NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp) rs201465308
NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr)
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe) rs1486727511
NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala) rs1681466995
NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr)
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu) rs1681467295
NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg)
NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly) rs1681467352
NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)
NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu) rs1559099144
NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val) rs1559099144
NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)
NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile) rs1553518402
NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser) rs1574485128
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser) rs1371018820
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) rs1681472341
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) rs2105129435
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
NM_001378120.1(MBD5):c.443T>C (p.Val148Ala)
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser) rs747940875
NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr) rs1681475025
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) rs370231736
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp)
NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile)
NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu) rs1574485440
NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)
NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)
NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn)
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly) rs781154198
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro)
NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)
NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) rs1278585545
NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile) rs1559099606
NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr) rs1465957655
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)
NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn) rs1553520621
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg) rs999944646
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg) rs1396512077
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn) rs2105131988
NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=) rs1681489070
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) rs773779478
NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala) rs773779478
NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)
NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp) rs1681490063
NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr) rs753754490
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile) rs1681492416
NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg)
NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu) rs768363712
NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe) rs770196931
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
NM_001378120.1(MBD5):c.4962+6C>A rs2105133581
NM_001378120.1(MBD5):c.4963-2A>T rs2105225632
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)
NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu) rs1706964965
NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs)
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro) rs1131691294
NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs)
NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His) rs2105294933
NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys) rs913152551
NM_001378120.1(MBD5):c.513G>A (p.Met171Ile) rs1301707163
NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys)
NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter)
NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs)
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) rs1553523408
NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu) rs2105295194
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) rs1481914876
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu)
NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)
NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser)
NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle) rs1680666363
NM_001378120.1(MBD5):c.55A>G (p.Ile19Val) rs1559080667
NM_001378120.1(MBD5):c.560C>A (p.Pro187His) rs2105623463
NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del)
NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln)
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp) rs2105624053
NM_001378120.1(MBD5):c.622C>T (p.His208Tyr) rs1574458957
NM_001378120.1(MBD5):c.623A>G (p.His208Arg)
NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val) rs1680672762
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu) rs1680673882
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala) rs1680674275
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)
NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys) rs1680677784
NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg)
NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp)
NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)
NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser) rs2105626027
NM_001378120.1(MBD5):c.800A>G (p.His267Arg) rs796052708
NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys)
NM_001378120.1(MBD5):c.80G>A (p.Arg27His) rs1706965994
NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala) rs899476247
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) rs776894242
NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)
NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp) rs759201974
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser) rs990703439
NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu) rs2105626905
NM_001378120.1(MBD5):c.889A>G (p.Ile297Val) rs2105626905
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
NM_001378120.1(MBD5):c.979A>G (p.Met327Val) rs1680685772
NM_001378120.1(MBD5):c.989A>G (p.His330Arg) rs750043178
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) rs2040205774
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs) rs748900140
NM_001378414.1(HDAC4):c.490+56_490+120del
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser) rs745976416
NM_001386298.1(CIC):c.2917C>T (p.His973Tyr)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser) rs1481007836
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His) rs1756837959
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly) rs2153074606
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn) rs1756812909
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup) rs1272732104
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val) rs1799664202
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg) rs2152042647
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val) rs1756753374
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter) rs2152041454
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe) rs607159
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe) rs2153074116
NM_002397.5(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_002397.5(MEF2C):c.258+20G>A
NM_002397.5(MEF2C):c.258+3G>A
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met) rs2153222916
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp) rs1777743502
NM_002397.5(MEF2C):c.304G>C (p.Asp102His) rs2152674244
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu) rs1777713411
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg) rs2152673311
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe) rs2152673081
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala) rs1057349061
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) rs1772995609
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
NM_002397.5(MEF2C):c.54+5G>A
NM_002397.5(MEF2C):c.54+6T>C
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg) rs1772929062
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
NM_002397.5(MEF2C):c.589+6T>A rs1370610061
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala) rs1554139870
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser) rs1029856807
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile) rs2153075088
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) rs1554110298
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs) rs2152497336
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu) rs1761821562
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys) rs1761787183
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln) rs1761775496
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile) rs2152279598
NM_002397.5(MEF2C):c.811-5C>G rs1760866808
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004933.3(CDH15):c.160G>T (p.Val54Leu)
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg) rs1589239722
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>A rs761208282
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*631G>A rs569902214
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1387-3T>C rs886059859
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) rs2138723102
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) rs780885506
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
NM_006940.6(SOX5):c.1343-4733C>T rs1947477250
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) rs2097171827
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) rs772035716
NM_006940.6(SOX5):c.291del (p.Met98fs)
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) rs1217393451
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
NM_006940.6(SOX5):c.616A>G (p.Ile206Val) rs2093775713
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
NM_006940.6(SOX5):c.798G>T (p.Gln266His) rs2093521806
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala) rs1224542564
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) rs1711880083
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu) rs2039707751
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr) rs2040070431
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro) rs750187494
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.460G>A (p.Val154Ile) rs2132669331
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
NM_018328.4:c.-925+35305_-557+13791del
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) rs1761727286
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) rs1762711811
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln) rs1374361789
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu) rs367809750
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His) rs1763178149
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg) rs757392008
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) rs546116718
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile) rs776330654
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe) rs371775975
NM_022455.5(NSD1):c.1428G>A (p.Leu476=) rs587784072
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val) rs925398929
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro) rs1763212012
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser) rs1265667423
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser) rs1449506408
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val) rs1410310481
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) rs1763234813
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg) rs1281302772
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) rs1581318727
NM_022455.5(NSD1):c.2215_2217del (p.Val739del) rs1763260903
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) rs139085502
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr) rs1763266375
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr) rs1763273634
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val) rs1562208925
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe) rs1763281290
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val) rs2149845759
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) rs2095343853
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp) rs371226812
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) rs1465577289
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys) rs1581089074
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile) rs1581324163
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro) rs749444972
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) rs1180409864
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) rs372004424
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His) rs1161564727
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.5(NSD1):c.3922-9T>A
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) rs587784108
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val) rs1554195876
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser) rs1554195885
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
NM_022455.5(NSD1):c.4302+3A>T
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His) rs1435199225
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu) rs587784113
NM_022455.5(NSD1):c.4378+7A>G rs587784116
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln) rs1581430053
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser) rs1766449552
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) rs2149899575
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn) rs1401885898
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe) rs1581433960
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser) rs1755989003
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly) rs2149904592
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
NM_022455.5(NSD1):c.4766-2A>C
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn) rs1756521704
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln) rs1756860552
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His) rs1562269357
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln) rs146414176
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp) rs2149918094
NM_022455.5(NSD1):c.5121T>C (p.Val1707=) rs1756870315
NM_022455.5(NSD1):c.5146+2dup rs1581468671
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg) rs1043343803
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly) rs1581491894
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn) rs1135401952
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
NM_022455.5(NSD1):c.5310G>C (p.Trp1770Cys) rs1060501496
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly) rs2149934442
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn) rs1757805156
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022455.5(NSD1):c.557A>T (p.Glu186Val) rs1756255240
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) rs1756207246
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr) rs1554204110
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp) rs528069420
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr) rs1758804006
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro) rs1554204128
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) rs1391504793
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys) rs1758806559
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro) rs587784159
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) rs377302741
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
NM_022455.5(NSD1):c.6009+3A>C rs2127261070
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg) rs2127262871
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly) rs1554204958
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser) rs2127263182
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser) rs587784195
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile) rs1208967470
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly) rs587784199
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6464-1G>A rs1760055914
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) rs1562098870
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr) rs1581562963
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del) rs1756266305
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp) rs1760067330
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val) rs587784212
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro) rs1760072488
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=) rs587784215
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro) rs2127280443
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) rs1319472971
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) rs765876148
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) rs1416255762
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val) rs1760151289
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) rs1180593710
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr) rs1450153384
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
NM_022455.5(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val) rs1371700950
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys) rs751787444
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala) rs1709968423
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly) rs2133032382
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg) rs1852674776
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly) rs1852674776
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp) rs1852674511
NM_024426.6(WT1):c.1016+6T>C
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
NM_024426.6(WT1):c.1017-1G>A rs868047507
NM_024426.6(WT1):c.1017-2A>G
NM_024426.6(WT1):c.1017-3C>T rs1554940545
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg) rs1564975891
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn) rs371021920
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu) rs2132959011
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys) rs1852103005
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys) rs2132958801
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg) rs750018485
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn) rs267602851
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala) rs2132958406
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
NM_024426.6(WT1):c.1052C>T (p.Thr351Met) rs761627098
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
NM_024426.6(WT1):c.1057A>G (p.Ile353Val) rs1554940527
NM_024426.6(WT1):c.105G>T (p.Gln35His)
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu) rs760654956
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu) rs771117558
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg) rs1554940518
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly) rs1852099254
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr) rs2132957665
NM_024426.6(WT1):c.1086C>G (p.His362Gln) rs1421853816
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg) rs1852098454
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn) rs2132957418
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser) rs1852096499
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
NM_024426.6(WT1):c.110G>C (p.Gly37Ala) rs1853477982
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg) rs1852096219
NM_024426.6(WT1):c.1113+3G>A
NM_024426.6(WT1):c.1113+5G>C rs930795675
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln) rs2132942126
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro) rs554416372
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu) rs554416372
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
NM_024426.6(WT1):c.112G>T (p.Val38Phe) rs1229949294
NM_024426.6(WT1):c.1130C>A (p.Pro377His) rs1590339111
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp) rs2132941654
NM_024426.6(WT1):c.1139C>T (p.Ala380Val) rs2132941654
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala) rs1851973152
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile) rs2132941453
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro) rs147241955
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu) rs147241955
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr) rs1412336417
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys) rs1851970123
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) rs1564972874
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr) rs267602850
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu) rs1851969544
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu) rs200539928
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
NM_024426.6(WT1):c.118G>C (p.Asp40His) rs1853477193
NM_024426.6(WT1):c.118del (p.Asp40fs) rs2133107122
NM_024426.6(WT1):c.1190T>C (p.Met397Thr) rs2132940385
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
NM_024426.6(WT1):c.1191G>A (p.Met397Ile) rs2132940348
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser) rs2132940315
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly) rs1590338798
NM_024426.6(WT1):c.1196C>T (p.Ala399Val) rs1590338798
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser) rs748864758
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys) rs1851967853
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
NM_024426.6(WT1):c.121C>G (p.Pro41Ala) rs926668379
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
NM_024426.6(WT1):c.1264+3A>G
NM_024426.6(WT1):c.1264+6T>A rs1366602349
NM_024426.6(WT1):c.1265-18A>G
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg) rs2132921474
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
NM_024426.6(WT1):c.127G>T (p.Gly43Cys) rs1166553415
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro) rs1358408901
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys) rs2132920559
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys) rs2132920415
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg) rs1851852482
NM_024426.6(WT1):c.133T>G (p.Trp45Gly) rs1186470250
NM_024426.6(WT1):c.1341A>C (p.Gln447His) rs772822466
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
NM_024426.6(WT1):c.136G>A (p.Ala46Thr) rs886048233
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser) rs2132915129
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg) rs1851834162
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1408C>T (p.His470Tyr) rs1554939072
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
NM_024426.6(WT1):c.143T>C (p.Leu48Ser) rs1565002394
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
NM_024426.6(WT1):c.1447+3G>A rs2132913499
NM_024426.6(WT1):c.1448-3C>A rs904330511
NM_024426.6(WT1):c.1448-3C>T
NM_024426.6(WT1):c.1448-6C>G
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn) rs267602849
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp) rs1315549918
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser) rs761360324
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg) rs776256676
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) rs763551837
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly) rs2132898997
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
NM_024426.6(WT1):c.150del (p.Ala51fs) rs2133106747
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu) rs1851744303
NM_024426.6(WT1):c.1519del (p.His507fs)
NM_024426.6(WT1):c.151G>A (p.Ala51Thr) rs1853473868
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn) rs2133106703
NM_024426.6(WT1):c.1524C>A (p.His508Gln) rs1451629862
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile) rs2132898041
NM_024426.6(WT1):c.1528A>G (p.Met510Val) rs1554938534
NM_024426.6(WT1):c.1529T>A (p.Met510Lys) rs1851743827
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr) rs1363144688
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser) rs1554938531
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile) rs1554938531
NM_024426.6(WT1):c.1545G>A (p.Met515Ile) rs2132897547
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro) rs1851742668
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp) rs1851742229
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
NM_024426.6(WT1):c.162C>A (p.Ser54Arg) rs776954184
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val) rs2133106545
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
NM_024426.6(WT1):c.169C>A (p.Arg57Ser) rs961526551
NM_024426.6(WT1):c.169C>G (p.Arg57Gly) rs961526551
NM_024426.6(WT1):c.16C>T (p.Leu6=)
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
NM_024426.6(WT1):c.170G>A (p.Arg57His) rs1011628259
NM_024426.6(WT1):c.170G>T (p.Arg57Leu) rs1011628259
NM_024426.6(WT1):c.172C>T (p.Leu58Phe) rs1412425868
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
NM_024426.6(WT1):c.176A>G (p.Gln59Arg) rs2133106426
NM_024426.6(WT1):c.177G>A (p.Gln59=) rs1311704660
NM_024426.6(WT1):c.177G>C (p.Gln59His) rs1311704660
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
NM_024426.6(WT1):c.185G>A (p.Arg62Lys) rs1295712217
NM_024426.6(WT1):c.189C>A (p.Ser63Arg) rs1215127008
NM_024426.6(WT1):c.191G>A (p.Arg64His) rs1853471149
NM_024426.6(WT1):c.193G>T (p.Gly65Trp) rs374404615
NM_024426.6(WT1):c.194G>A (p.Gly65Glu) rs1853470727
NM_024426.6(WT1):c.196G>A (p.Ala66Thr) rs1590410967
NM_024426.6(WT1):c.196del (p.Ala66fs)
NM_024426.6(WT1):c.197C>A (p.Ala66Glu) rs1341675324
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
NM_024426.6(WT1):c.19C>A (p.Gln7Lys) rs2133108011
NM_024426.6(WT1):c.19C>T (p.Gln7Ter) rs2133108011
NM_024426.6(WT1):c.200C>T (p.Ser67Phe) rs1327516147
NM_024426.6(WT1):c.202G>C (p.Gly68Arg) rs1353446740
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.210G>C (p.Glu70Asp) rs745506215
NM_024426.6(WT1):c.211C>T (p.Pro71Ser) rs1392405207
NM_024426.6(WT1):c.215A>T (p.Gln72Leu) rs2133106001
NM_024426.6(WT1):c.216G>C (p.Gln72His) rs5030135
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
NM_024426.6(WT1):c.232G>A (p.Val78Met) rs1590410789
NM_024426.6(WT1):c.236G>A (p.Arg79Gln) rs1853467176
NM_024426.6(WT1):c.238G>C (p.Asp80His)
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
NM_024426.6(WT1):c.240C>G (p.Asp80Glu) rs2133105820
NM_024426.6(WT1):c.241C>A (p.Leu81Met) rs777617460
NM_024426.6(WT1):c.242T>G (p.Leu81Arg) rs2133105795
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
NM_024426.6(WT1):c.247G>C (p.Ala83Pro) rs886048231
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
NM_024426.6(WT1):c.24C>A (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.24C>G (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
NM_024426.6(WT1):c.25C>A (p.Pro9Thr) rs1314273962
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
NM_024426.6(WT1):c.262G>T (p.Val88Phe) rs1410971862
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
NM_024426.6(WT1):c.268T>C (p.Ser90Pro) rs1590410623
NM_024426.6(WT1):c.269C>T (p.Ser90Phe) rs1853464700
NM_024426.6(WT1):c.26C>G (p.Pro9Arg) rs948132360
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del) rs770519620
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup) rs770519620
NM_024426.6(WT1):c.278G>A (p.Gly93Asp) rs1590410578
NM_024426.6(WT1):c.280G>A (p.Gly94Ser) rs758512604
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230
NM_024426.6(WT1):c.286G>T (p.Gly96Cys) rs1060501254
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
NM_024426.6(WT1):c.289T>C (p.Cys97Arg) rs1383360383
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
NM_024426.6(WT1):c.28G>T (p.Ala10Ser) rs1351753257
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile) rs1554946803
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.290G>C (p.Cys97Ser) rs1853462998
NM_024426.6(WT1):c.293C>G (p.Ala98Gly) rs1853462729
NM_024426.6(WT1):c.293C>T (p.Ala98Val) rs1853462729
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
NM_024426.6(WT1):c.296T>A (p.Leu99Gln) rs1565001942
NM_024426.6(WT1):c.296T>C (p.Leu99Pro) rs1565001942
NM_024426.6(WT1):c.298C>A (p.Pro100Thr) rs567200038
NM_024426.6(WT1):c.298C>T (p.Pro100Ser) rs567200038
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
NM_024426.6(WT1):c.301G>C (p.Val101Leu) rs1853461708
NM_024426.6(WT1):c.305G>A (p.Ser102Asn) rs1210117032
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
NM_024426.6(WT1):c.307G>T (p.Gly103Cys) rs1348287926
NM_024426.6(WT1):c.310G>A (p.Ala104Thr) rs1853461168
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) rs1236417259
NM_024426.6(WT1):c.319T>G (p.Trp107Gly) rs1853460114
NM_024426.6(WT1):c.320G>T (p.Trp107Leu) rs1009810769
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
NM_024426.6(WT1):c.326C>A (p.Pro109Gln) rs1853459569
NM_024426.6(WT1):c.329T>C (p.Val110Ala) rs1853459284
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro) rs2133107830
NM_024426.6(WT1):c.340G>A (p.Ala114Thr) rs1590410300
NM_024426.6(WT1):c.341C>T (p.Ala114Val) rs1311557029
NM_024426.6(WT1):c.343C>A (p.Pro115Thr) rs916583720
NM_024426.6(WT1):c.344C>A (p.Pro115His) rs1565001804
NM_024426.6(WT1):c.346C>A (p.Pro116Thr) rs1554946595
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) rs886048229
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.352G>A (p.Ala118Thr) rs1253163678
NM_024426.6(WT1):c.356C>G (p.Ser119Trp) rs1853456180
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
NM_024426.6(WT1):c.358G>A (p.Ala120Thr) rs1590410151
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
NM_024426.6(WT1):c.35C>T (p.Thr12Met) rs2133107793
NM_024426.6(WT1):c.368C>T (p.Ser123Leu) rs2133104248
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
NM_024426.6(WT1):c.376G>A (p.Gly126Ser) rs1853454814
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
NM_024426.6(WT1):c.376G>T (p.Gly126Cys) rs1853454814
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
NM_024426.6(WT1):c.377G>C (p.Gly126Ala) rs2133104145
NM_024426.6(WT1):c.379C>A (p.Pro127Thr) rs1554946578
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
NM_024426.6(WT1):c.382G>A (p.Ala128Thr) rs1853454136
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.388C>T (p.Pro130Ser) rs1554946573
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
NM_024426.6(WT1):c.390_401dup (p.128APPP[3]) rs2133103848
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
NM_024426.6(WT1):c.391C>T (p.Pro131Ser) rs564706633
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
NM_024426.6(WT1):c.393G>A (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del) rs1853451296
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup) rs1853451296
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
NM_024426.6(WT1):c.397C>T (p.Pro133Ser) rs1202603651
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
NM_024426.6(WT1):c.400C>T (p.Pro134Ser) rs2133103862
NM_024426.6(WT1):c.401C>G (p.Pro134Arg) rs748974419
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup) rs1469499452
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del) rs2133103594
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup) rs1853449457
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
NM_024426.6(WT1):c.409C>G (p.Pro137Ala) rs1853451078
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) rs760304811
NM_024426.6(WT1):c.413C>A (p.Pro138Gln) rs1853450493
NM_024426.6(WT1):c.413C>G (p.Pro138Arg) rs1853450493
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
NM_024426.6(WT1):c.416C>G (p.Pro139Arg) rs878855085
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
NM_024426.6(WT1):c.425A>C (p.His142Pro) rs1565001515
NM_024426.6(WT1):c.425A>T (p.His142Leu) rs1565001515
NM_024426.6(WT1):c.426C>G (p.His142Gln) rs1183359726
NM_024426.6(WT1):c.427T>C (p.Ser143Pro) rs778937284
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
NM_024426.6(WT1):c.430_432del (p.Phe144del)
NM_024426.6(WT1):c.433A>G (p.Ile145Val) rs2133103410
NM_024426.6(WT1):c.445C>T (p.Pro149Ser) rs1554946517
NM_024426.6(WT1):c.446C>A (p.Pro149Gln) rs1853447771
NM_024426.6(WT1):c.446C>G (p.Pro149Arg) rs1853447771
NM_024426.6(WT1):c.448A>G (p.Ser150Gly) rs1853447534
NM_024426.6(WT1):c.449G>A (p.Ser150Asn) rs1853447426
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
NM_024426.6(WT1):c.44C>T (p.Pro15Leu) rs2133107749
NM_024426.6(WT1):c.450C>A (p.Ser150Arg) rs1213710686
NM_024426.6(WT1):c.451T>A (p.Trp151Arg) rs1853446972
NM_024426.6(WT1):c.455G>A (p.Gly152Asp) rs1853446628
NM_024426.6(WT1):c.463G>A (p.Glu155Lys) rs1853446395
NM_024426.6(WT1):c.466C>T (p.Pro156Ser) rs1353428791
NM_024426.6(WT1):c.467C>A (p.Pro156Gln) rs1225927150
NM_024426.6(WT1):c.467C>T (p.Pro156Leu) rs1225927150
NM_024426.6(WT1):c.46G>A (p.Glu16Lys) rs2133107724
NM_024426.6(WT1):c.471C>A (p.His157Gln) rs753238865
NM_024426.6(WT1):c.471C>G (p.His157Gln) rs753238865
NM_024426.6(WT1):c.472G>A (p.Glu158Lys) rs1565001383
NM_024426.6(WT1):c.472G>C (p.Glu158Gln) rs1565001383
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
NM_024426.6(WT1):c.477G>C (p.Glu159Asp) rs2133102935
NM_024426.6(WT1):c.478C>G (p.Gln160Glu) rs1554946500
NM_024426.6(WT1):c.480G>C (p.Gln160His) rs758900425
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
NM_024426.6(WT1):c.482G>T (p.Cys161Phe) rs1201988298
NM_024426.6(WT1):c.488G>A (p.Ser163Asn) rs1853444119
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
NM_024426.6(WT1):c.490G>C (p.Ala164Pro) rs986597775
NM_024426.6(WT1):c.496A>G (p.Thr166Ala) rs1853443725
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
NM_024426.6(WT1):c.503A>G (p.His168Arg) rs762660918
NM_024426.6(WT1):c.505T>C (p.Phe169Leu) rs2133102637
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
NM_024426.6(WT1):c.50C>T (p.Pro17Leu) rs1853481697
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
NM_024426.6(WT1):c.520A>G (p.Thr174Ala) rs955122145
NM_024426.6(WT1):c.524G>A (p.Gly175Asp) rs1853442286
NM_024426.6(WT1):c.527C>T (p.Thr176Ile) rs1853442157
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
NM_024426.6(WT1):c.52G>C (p.Ala18Pro) rs1590411684
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
NM_024426.6(WT1):c.535G>A (p.Ala179Thr) rs2133102397
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) rs1565001278
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
NM_024426.6(WT1):c.542G>C (p.Arg181Pro) rs1853441270
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
NM_024426.6(WT1):c.547G>C (p.Gly183Arg) rs1462705405
NM_024426.6(WT1):c.548G>A (p.Gly183Glu) rs1060501256
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
NM_024426.6(WT1):c.556G>A (p.Gly186Ser) rs768644520
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
NM_024426.6(WT1):c.563C>T (p.Pro188Leu) rs2133102091
NM_024426.6(WT1):c.565C>G (p.Pro189Ala) rs1853439331
NM_024426.6(WT1):c.565C>T (p.Pro189Ser) rs1853439331
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
NM_024426.6(WT1):c.566C>G (p.Pro189Arg) rs745879965
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
NM_024426.6(WT1):c.572G>C (p.Ser191Thr) rs2133101967
NM_024426.6(WT1):c.575A>G (p.Gln192Arg) rs1853438394
NM_024426.6(WT1):c.577G>A (p.Ala193Thr) rs1590409175
NM_024426.6(WT1):c.577G>C (p.Ala193Pro) rs1590409175
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
NM_024426.6(WT1):c.578C>G (p.Ala193Gly) rs572926487
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
NM_024426.6(WT1):c.581C>T (p.Ser194Leu) rs2133101846
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
NM_024426.6(WT1):c.584C>T (p.Ser195Phe) rs778194188
NM_024426.6(WT1):c.589C>A (p.Gln197Lys) rs2133101720
NM_024426.6(WT1):c.590A>G (p.Gln197Arg) rs1853436737
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.593C>T (p.Ala198Val) rs1853436133
NM_024426.6(WT1):c.598A>G (p.Met200Val)
NM_024426.6(WT1):c.598A>T (p.Met200Leu) rs1853435610
NM_024426.6(WT1):c.599T>G (p.Met200Arg) rs2133101589
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.604C>T (p.Pro202Ser) rs1853435385
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
NM_024426.6(WT1):c.609C>G (p.Asn203Lys) rs2234583
NM_024426.6(WT1):c.611C>T (p.Ala204Val) rs1277548839
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
NM_024426.6(WT1):c.62A>G (p.His21Arg) rs1853481014
NM_024426.6(WT1):c.62A>T (p.His21Leu) rs1853481014
NM_024426.6(WT1):c.631C>T (p.Leu211Phe) rs1853433365
NM_024426.6(WT1):c.635A>G (p.Glu212Gly) rs2133101294
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
NM_024426.6(WT1):c.638G>A (p.Ser213Asn) rs746964440
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
NM_024426.6(WT1):c.649A>C (p.Ile217Leu) rs1384974578
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024426.6(WT1):c.649A>T (p.Ile217Phe) rs1384974578
NM_024426.6(WT1):c.64A>G (p.Thr22Ala) rs2133107584
NM_024426.6(WT1):c.652C>A (p.Arg218Ser) rs2133101131
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.653G>T (p.Arg218Leu) rs756414084
NM_024426.6(WT1):c.655A>C (p.Asn219His) rs748435329
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
NM_024426.6(WT1):c.659A>G (p.Gln220Arg) rs1554946409
NM_024426.6(WT1):c.659A>T (p.Gln220Leu) rs1554946409
NM_024426.6(WT1):c.660G>A (p.Gln220=)
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.661+3A>G
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
NM_024426.6(WT1):c.662-3C>T rs1853152059
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
NM_024426.6(WT1):c.664T>C (p.Tyr222His) rs746367691
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
NM_024426.6(WT1):c.670A>T (p.Thr224Ser) rs1554945246
NM_024426.6(WT1):c.671C>T (p.Thr224Met) rs779451877
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
NM_024426.6(WT1):c.676A>C (p.Thr226Pro) rs1853150433
NM_024426.6(WT1):c.677C>A (p.Thr226Asn) rs556804456
NM_024426.6(WT1):c.677C>T (p.Thr226Ile) rs556804456
NM_024426.6(WT1):c.67C>T (p.Leu23Phe) rs2133107546
NM_024426.6(WT1):c.680T>C (p.Phe227Ser) rs1554945235
NM_024426.6(WT1):c.682G>A (p.Asp228Asn) rs1193052708
NM_024426.6(WT1):c.685G>C (p.Gly229Arg) rs767419243
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
NM_024426.6(WT1):c.689C>G (p.Thr230Arg) rs777166391
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser) rs1853148368
NM_024426.6(WT1):c.691C>G (p.Pro231Ala) rs766425764
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr) rs1853147640
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
NM_024426.6(WT1):c.700G>C (p.Gly234Arg) rs1307992683
NM_024426.6(WT1):c.700G>T (p.Gly234Cys) rs1307992683
NM_024426.6(WT1):c.707C>T (p.Thr236Met) rs1372808262
NM_024426.6(WT1):c.709C>T (p.Pro237Ser) rs2133075717
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
NM_024426.6(WT1):c.718C>T (p.His240Tyr) rs2133075605
NM_024426.6(WT1):c.719A>G (p.His240Arg) rs886932571
NM_024426.6(WT1):c.719A>T (p.His240Leu) rs886932571
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
NM_024426.6(WT1):c.721G>A (p.Ala241Thr) rs1853145802
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.725C>T (p.Ala242Val) rs1853145265
NM_024426.6(WT1):c.730T>C (p.Phe244Leu) rs771455202
NM_024426.6(WT1):c.733C>T (p.Pro245Ser) rs2133075412
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
NM_024426.6(WT1):c.740A>G (p.His247Arg) rs749860238
NM_024426.6(WT1):c.740A>T (p.His247Leu) rs749860238
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
NM_024426.6(WT1):c.745T>A (p.Phe249Ile) rs2133075297
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.747C>G (p.Phe249Leu) rs1060501259
NM_024426.6(WT1):c.752A>G (p.His251Arg) rs914029023
NM_024426.6(WT1):c.752A>T (p.His251Leu) rs914029023
NM_024426.6(WT1):c.757G>A (p.Asp253Asn) rs1853142313
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
NM_024426.6(WT1):c.760C>A (p.Pro254Thr) rs2234584
NM_024426.6(WT1):c.763A>C (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.763A>T (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.765G>C (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.765G>T (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
NM_024426.6(WT1):c.767G>T (p.Gly256Val) rs1554945190
NM_024426.6(WT1):c.76G>C (p.Gly26Arg) rs1189241211
NM_024426.6(WT1):c.773A>G (p.Gln258Arg) rs1853140674
NM_024426.6(WT1):c.774G>C (p.Gln258His) rs1853140429
NM_024426.6(WT1):c.776G>A (p.Gly259Asp) rs1311184469
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
NM_024426.6(WT1):c.784+5G>A
NM_024426.6(WT1):c.784+6C>T rs1455790542
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.785-3C>T rs1590394595
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
NM_024426.6(WT1):c.800C>T (p.Ser267Leu) rs2133073025
NM_024426.6(WT1):c.806C>T (p.Pro269Leu) rs756078681
NM_024426.6(WT1):c.809C>T (p.Pro270Leu) rs1853120541
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
NM_024426.6(WT1):c.825C>G (p.Cys275Trp) rs200222400
NM_024426.6(WT1):c.830C>A (p.Thr277Asn) rs138073760
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
NM_024426.6(WT1):c.848C>T (p.Thr283Ile) rs776258782
NM_024426.6(WT1):c.854G>A (p.Ser285Asn) rs779813097
NM_024426.6(WT1):c.854G>C (p.Ser285Thr) rs779813097
NM_024426.6(WT1):c.855C>A (p.Ser285Arg) rs1320428764
NM_024426.6(WT1):c.857A>C (p.Gln286Pro) rs2133072249
NM_024426.6(WT1):c.859G>C (p.Ala287Pro) rs368452754
NM_024426.6(WT1):c.866T>C (p.Leu289Pro) rs2133072199
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
NM_024426.6(WT1):c.874A>G (p.Thr292Ala) rs1853114494
NM_024426.6(WT1):c.875C>A (p.Thr292Lys) rs1853114358
NM_024426.6(WT1):c.875C>T (p.Thr292Met) rs1853114358
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
NM_024426.6(WT1):c.87C>A (p.Cys29Ter) rs1554946770
NM_024426.6(WT1):c.883A>G (p.Ser295Gly) rs1853113579
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
NM_024426.6(WT1):c.887+15_887+16delinsAA
NM_024426.6(WT1):c.888-1G>A
NM_024426.6(WT1):c.888-9T>A rs1852720933
NM_024426.6(WT1):c.891C>A (p.Asp297Glu) rs2133037806
NM_024426.6(WT1):c.892A>G (p.Asn298Asp) rs1554943492
NM_024426.6(WT1):c.893A>G (p.Asn298Ser) rs907964605
NM_024426.6(WT1):c.905T>A (p.Met302Lys) rs1208241960
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
NM_024426.6(WT1):c.916C>A (p.Leu306Ile) rs2133037398
NM_024426.6(WT1):c.919G>C (p.Glu307Gln) rs1852718651
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
NM_024426.6(WT1):c.91C>T (p.Gln31Ter) rs914057243
NM_024426.6(WT1):c.922T>G (p.Cys308Gly) rs1852718495
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
NM_024426.6(WT1):c.946T>A (p.Leu316Ile) rs2133036912
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
NM_024426.6(WT1):c.953C>G (p.Ala318Gly) rs1201042140
NM_024426.6(WT1):c.955A>G (p.Thr319Ala) rs1852716784
NM_024426.6(WT1):c.956C>A (p.Thr319Asn) rs372630828
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
NM_024426.6(WT1):c.965+5G>A rs2133036572
NM_024426.6(WT1):c.965+6G>A
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
NM_024426.6(WT1):c.966-1G>A rs773989805
NM_024426.6(WT1):c.966-3T>C
NM_024426.6(WT1):c.968T>C (p.Val323Ala) rs1852677213
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
NM_024426.6(WT1):c.979A>C (p.Ser327Arg) rs1590373542
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
NM_024426.6(WT1):c.987C>G (p.Ser329Arg) rs2133032527
NM_024426.6(WT1):c.988T>C (p.Ser330Pro) rs879279620
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
NM_024426.6(WT1):c.996A>T (p.Lys332Asn) rs758410591
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032322.4(RNF135):c.742del (p.Leu248fs) rs724159977
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter) rs2116378500
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) rs1816390931
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
NM_078480.3(PUF60):c.1381-3_1381-2del
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp) rs2130258570
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
NM_078480.3(PUF60):c.603G>A (p.Lys201=) rs1816591218
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser) rs1439430129
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg) rs752337482
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1285C>G (p.His429Asp) rs375082054
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1300+4C>T rs1207963576
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) rs750104212
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser) rs2046880742
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe) rs750535468
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe) rs1360467783
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg) rs2046824022
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) rs201056799
NM_144997.7(FLCN):c.1715C>A (p.Pro572His) rs1567804824
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln) rs1048214486
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) rs587778365
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln) rs1567822604
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe) rs1229735191
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro) rs878855219
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1]) rs1209487287
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu) rs1026067642
NM_144997.7(FLCN):c.798C>T (p.Gly266=) rs2047092959
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser) rs779449668
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg) rs748031634
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)
NM_152989.5(SOX5):c.-1-87764T>C rs1949815031
NM_152989.5(SOX5):c.-175-344A>G rs2136240323
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075
Single allele

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