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
|
|
|