NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_005573.4(LMNB1):c.*284T>G
|
rs550205958
|
0.00297
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_005573.4(LMNB1):c.*54A>T
|
rs370551700
|
0.00099
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176
|
0.00042
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887
|
0.00035
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_001002295.2(GATA3):c.-495G>C
|
rs556347150
|
0.00030
|
NM_001002295.2(GATA3):c.*575A>C
|
rs552915242
|
0.00029
|
NM_022039.4(FBXW4):c.192G>A (p.Thr64=)
|
rs886046647
|
0.00024
|
NM_000304.4(PMP22):c.*894C>T
|
rs916402753
|
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_000057.4(BLM):c.-65C>T
|
rs577293550
|
0.00019
|
NM_001002295.2(GATA3):c.*383T>G
|
rs116910852
|
0.00017
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370
|
0.00016
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262
|
0.00014
|
NM_001002295.2(GATA3):c.*952G>A
|
rs773450577
|
0.00014
|
NM_022039.4(FBXW4):c.*600G>A
|
rs1022774144
|
0.00014
|
NM_000057.4(BLM):c.-70G>T
|
rs552669203
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_001002295.2(GATA3):c.990G>A (p.Arg330=)
|
rs374947324
|
0.00013
|
NM_005573.4(LMNB1):c.*270T>C
|
rs1021872186
|
0.00013
|
NM_000057.4(BLM):c.*142T>C
|
rs1040068612
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_005573.4(LMNB1):c.*301T>C
|
rs960666703
|
0.00011
|
NM_022039.4(FBXW4):c.726-12G>T
|
rs755969920
|
0.00011
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala)
|
rs933647897
|
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_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
NM_001002295.2(GATA3):c.-40G>A
|
rs201178566
|
0.00006
|
NM_001042424.3(NSD2):c.*1922dup
|
rs886059331
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys)
|
rs770518721
|
0.00006
|
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)
|
rs994236399
|
0.00005
|
NM_022455.5(NSD1):c.*1014dup
|
rs886060448
|
0.00005
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)
|
rs149598003
|
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_022039.4(FBXW4):c.*606A>C
|
rs886046641
|
0.00004
|
NM_000057.4(BLM):c.-29C>T
|
rs886051549
|
0.00003
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
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_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_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
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.631G>A (p.Ala211Thr)
|
rs778421571
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_005573.4(LMNB1):c.1161-6A>G
|
rs765920630
|
0.00002
|
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)
|
rs374998378
|
0.00002
|
NM_000057.4(BLM):c.-59T>A
|
rs1438250598
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
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.74T>G (p.Val25Gly)
|
rs765741053
|
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.436G>A (p.Ala146Thr)
|
rs752779081
|
0.00001
|
NM_001002295.2(GATA3):c.489G>A (p.Pro163=)
|
rs766774125
|
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_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser)
|
rs1234645097
|
0.00001
|
NM_005068.3(SIM1):c.*1484T>C
|
rs886060891
|
0.00001
|
NM_005068.3(SIM1):c.743+10C>G
|
rs886060897
|
0.00001
|
NM_005573.4(LMNB1):c.*640G>A
|
rs1294635743
|
0.00001
|
NM_005573.4(LMNB1):c.775C>T (p.Leu259=)
|
rs575662572
|
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_000057.4(BLM):c.-33G>C
|
rs938444227
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.436G>C (p.Asp146His)
|
rs1895616204
|
|
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.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000612.6(IGF2):c.199G>A (p.Val67Ile)
|
rs1564894953
|
|
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.327C>T (p.Ala109=)
|
rs1832681004
|
|
NM_001002295.2(GATA3):c.492C>T (p.Asp164=)
|
rs1832688600
|
|
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.708C>A (p.Pro236=)
|
rs143582578
|
|
NM_001042424.3(NSD2):c.*1370dup
|
rs886059325
|
|
NM_001042424.3(NSD2):c.*2012dup
|
rs766138833
|
|
NM_001042424.3(NSD2):c.-29-6901dup
|
rs886059308
|
|
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu)
|
rs2073219406
|
|
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.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter)
|
rs2083274586
|
|
NM_005068.3(SIM1):c.*1447TG[4]
|
rs886060892
|
|
NM_005068.3(SIM1):c.-200del
|
rs146022425
|
|
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.987T>C (p.Ala329=)
|
rs1751792373
|
|
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_019066.5(MAGEL2):c.48G>T (p.Glu16Asp)
|
rs2140719597
|
|
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_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.136G>T (p.Ala46Ser)
|
rs886048233
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|