NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)
|
rs374919553
|
0.00002
|
NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter)
|
rs1290506364
|
0.00002
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2663-1G>C
|
rs1444037196
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3013_3019+4del
|
rs765392662
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
NM_001211.6(BUB1B):c.581+1G>T
|
rs2037228249
|
0.00001
|
NM_016111.4(TELO2):c.682+1G>A
|
rs779227414
|
0.00001
|
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter)
|
rs368965952
|
0.00001
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
NM_024426.6(WT1):c.965+1G>A
|
rs771527206
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
|
|
|
GRCh37/hg19 16p12.2(chr16:21973828-22361172)
|
|
|
GRCh37/hg19 16p13.11(chr16:14892880-16533890)
|
|
|
GRCh37/hg19 16p13.11(chr16:14892880-16544222)
|
|
|
GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)
|
|
|
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
|
|
|
GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)
|
|
|
GRCh37/hg19 22q11.21(chr22:20732808-21465659)
|
|
|
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
|
|
|
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
|
|
|
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)
|
|
|
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
|
|
|
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
|
|
|
NC_000002.11:g.(?_149267619)_(149267714_?)dup
|
|
|
NC_000002.11:g.(?_200213424)_(200246543_?)dup
|
|
|
NC_000002.11:g.(?_200320572)_(200320780_?)dup
|
|
|
NC_000002.12:g.(?_199380344)_(199433534_?)dup
|
|
|
NC_000005.9:g.(?_176618865)_(176619040_?)dup
|
|
|
NC_000005.9:g.(?_176631101)_(176631313_?)dup
|
|
|
NC_000005.9:g.(?_176662802)_(176662966_?)dup
|
|
|
NC_000011.9:g.(?_95549619)_(95562458_?)del
|
|
|
NC_000015.10:g.(?_90794157)_(90798347_?)del
|
|
|
NC_000015.10:g.(?_90803511)_(90804369_?)del
|
|
|
NC_000015.10:g.(?_90809127)_(90815289_?)del
|
|
|
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91328321_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91334084_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)dup
|
|
|
NC_000015.9:g.(?_91341448)_(91344889_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358519_?)del
|
|
|
NC_000015.9:g.(?_91352357)_(91358509_?)del
|
|
|
NC_000017.11:g.2688360_2784321del
|
|
|
NC_000023.10:g.(152882907_152991027)del
|
|
|
NC_000023.10:g.(152886255_152976269)del
|
|
|
NC_000023.10:g.(152982350_153041544)del
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
NM_000057.4(BLM):c.1087+1G>T
|
|
|
NM_000057.4(BLM):c.1087+2T>C
|
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1114del (p.Ile373fs)
|
rs1555419704
|
|
NM_000057.4(BLM):c.1151del (p.Asp384fs)
|
rs1555419724
|
|
NM_000057.4(BLM):c.1210del (p.Arg404fs)
|
rs1555419742
|
|
NM_000057.4(BLM):c.1220+1G>A
|
rs1555419748
|
|
NM_000057.4(BLM):c.1220+1G>T
|
|
|
NM_000057.4(BLM):c.1220+2T>C
|
|
|
NM_000057.4(BLM):c.1220+2T>G
|
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs)
|
rs1057517266
|
|
NM_000057.4(BLM):c.1740del (p.Thr581fs)
|
rs1057517432
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1795del (p.Arg599fs)
|
rs1057517431
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1882+1G>C
|
rs757841012
|
|
NM_000057.4(BLM):c.1882+2T>C
|
|
|
NM_000057.4(BLM):c.1883-1G>A
|
rs772230310
|
|
NM_000057.4(BLM):c.1883-2A>G
|
rs1555420142
|
|
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
|
|
|
NM_000057.4(BLM):c.1A>C (p.Met1Leu)
|
rs1215497457
|
|
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
|
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
|
|
|
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
|
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2307+1G>A
|
|
|
NM_000057.4(BLM):c.2307+2T>G
|
rs2151164052
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407-1G>A
|
rs1555420871
|
|
NM_000057.4(BLM):c.2407-2A>G
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
|
|
|
NM_000057.4(BLM):c.2516del (p.Lys839fs)
|
|
|
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
|
|
NM_000057.4(BLM):c.2548_2555+12del
|
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2555+1G>T
|
rs1555420917
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs)
|
rs1567052178
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2603del (p.Pro868fs)
|
|
|
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
|
|
|
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
|
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
|
|
NM_000057.4(BLM):c.2663-2A>G
|
rs1567053170
|
|
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
|
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)
|
rs1057516452
|
|
NM_000057.4(BLM):c.2756del (p.His919fs)
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2807del (p.Asn936fs)
|
rs1245531016
|
|
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)
|
rs1057516700
|
|
NM_000057.4(BLM):c.2823_2823+3del
|
|
|
NM_000057.4(BLM):c.2824-1G>C
|
rs1555423062
|
|
NM_000057.4(BLM):c.2824-2A>C
|
rs745538883
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs)
|
rs797045115
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.3022del (p.Glu1008fs)
|
rs1057516719
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.3210+1G>A
|
|
|
NM_000057.4(BLM):c.3211-2A>G
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3358+1G>A
|
|
|
NM_000057.4(BLM):c.3358+1G>T
|
|
|
NM_000057.4(BLM):c.3359-1G>A
|
|
|
NM_000057.4(BLM):c.3359-2A>G
|
|
|
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
|
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs)
|
rs2151194257
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3554_3559-116del
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3751+1G>A
|
rs1897239335
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3845dup (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)
|
rs1057516728
|
|
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
|
|
|
NM_000057.4(BLM):c.3874+1G>A
|
|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
|
NM_000057.4(BLM):c.3875-1G>A
|
rs2151199690
|
|
NM_000057.4(BLM):c.3875-2A>T
|
rs150421256
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
|
|
|
NM_000057.4(BLM):c.3901del (p.Leu1301fs)
|
rs1555425063
|
|
NM_000057.4(BLM):c.3917del (p.Gly1306fs)
|
rs764086459
|
|
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)
|
rs1555425074
|
|
NM_000057.4(BLM):c.3956del (p.Ile1319fs)
|
rs1555425080
|
|
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
|
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
|
|
|
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
|
|
|
NM_000057.4(BLM):c.443dup (p.Leu148fs)
|
rs1057516297
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.516del (p.Gln174fs)
|
|
|
NM_000057.4(BLM):c.543del (p.Ser181fs)
|
rs1555418380
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.662_665del (p.Thr221fs)
|
rs1057517229
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.746del (p.Asn249fs)
|
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.799+1G>A
|
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
|
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
|
|
|
NM_000057.4(BLM):c.942del (p.Ser315fs)
|
rs1555418701
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
NM_000057.4(BLM):c.959_959+16del
|
|
|
NM_000057.4(BLM):c.960-1G>A
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-1G>T
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-2A>C
|
rs1286600850
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000057.4(BLM):c.98_98+1del
|
|
|
NM_000057.4(BLM):c.99-1G>C
|
rs897262346
|
|
NM_000057.4(BLM):c.99-1G>T
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)
|
rs1858937359
|
|
NM_000612.6(IGF2):c.106del (p.Glu36fs)
|
|
|
NM_000612.6(IGF2):c.195del (p.Ile66fs)
|
rs1858779370
|
|
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)
|
|
|
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter)
|
rs142012621
|
|
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
|
|
|
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
|
|
|
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)
|
|
|
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
|
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
|
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)
|
rs2065902096
|
|
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)
|
rs267608399
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001130053.5(EEF1D):c.1488+1G>A
|
|
|
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)
|
rs2100414085
|
|
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)
|
rs2100520890
|
|
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)
|
rs1665711818
|
|
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs)
|
rs2100414172
|
|
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)
|
rs1553149202
|
|
NM_001134673.4(NFIA):c.352G>C (p.Asp118His)
|
rs1570123287
|
|
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)
|
rs769522583
|
|
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter)
|
rs2100414767
|
|
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs)
|
rs2141486160
|
|
NM_001145358.2(SIN3A):c.1526+1G>T
|
|
|
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)
|
rs2073302769
|
|
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)
|
rs1595897117
|
|
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
|
|
|
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)
|
rs2141424841
|
|
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs)
|
rs1555443600
|
|
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs)
|
rs1555443581
|
|
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)
|
rs2141415824
|
|
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs)
|
rs2141396556
|
|
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs)
|
rs2141368718
|
|
NM_001145358.2(SIN3A):c.366+5T>C
|
|
|
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
|
|
|
NM_001145358.2(SIN3A):c.474-1G>A
|
|
|
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
|
rs1347764887
|
|
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
|
|
|
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
|
|
|
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile)
|
rs863224917
|
|
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)
|
rs2105822776
|
|
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg)
|
rs1688108689
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)
|
rs1574510975
|
|
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro)
|
rs2105795469
|
|
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser)
|
rs1688103993
|
|
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)
|
rs1688103803
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
|
|
|
NM_001172509.2(SATB2):c.170-2A>G
|
|
|
NM_001172509.2(SATB2):c.1741-2A>C
|
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
NM_001172509.2(SATB2):c.473+1G>A
|
|
|
NM_001172509.2(SATB2):c.597+1G>A
|
rs1559016679
|
|
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter)
|
rs2105850080
|
|
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
|
|
|
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
|
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
|
|
|
NM_001172509.2(SATB2):c.75del (p.Pro26fs)
|
rs1574645416
|
|
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
|
|
|
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
|
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
|
|
|
NM_001211.6(BUB1B):c.1372del (p.Thr458fs)
|
|
|
NM_001211.6(BUB1B):c.1401G>T (p.Gln467His)
|
|
|
NM_001211.6(BUB1B):c.2285-2A>G
|
|
|
NM_001211.6(BUB1B):c.2386-2A>G
|
rs2037726277
|
|
NM_001211.6(BUB1B):c.2851-1G>C
|
rs1566830754
|
|
NM_001211.6(BUB1B):c.36-1G>A
|
|
|
NM_001211.6(BUB1B):c.967-2A>T
|
rs2037350060
|
|
NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp)
|
rs1781557432
|
|
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys)
|
rs200400333
|
|
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)
|
rs1057519406
|
|
NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro)
|
rs2083140726
|
|
NM_001372044.2(SHANK3):c.2324+1del
|
rs2146817773
|
|
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
|
|
|
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
|
|
|
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
|
|
|
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
|
|
|
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
|
|
|
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
|
rs2083280147
|
|
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
|
|
|
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
|
|
|
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
|
|
|
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs)
|
rs2146832853
|
|
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs)
|
rs1603447144
|
|
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter)
|
rs2146833747
|
|
NM_001372044.2(SHANK3):c.494+2T>G
|
rs1603445997
|
|
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
|
|
|
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
|
|
|
NM_001372044.2:c.288+1G>A
|
|
|
NM_001378120.1(MBD5):c.1119del (p.Val374fs)
|
rs1680695228
|
|
NM_001378120.1(MBD5):c.114-2A>T
|
rs1574451881
|
|
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
|
|
|
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
|
|
|
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
|
|
|
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
|
|
|
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
|
|
|
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp)
|
rs1393532031
|
|
NM_001378120.1(MBD5):c.5037-2A>G
|
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
NM_001378120.1(MBD5):c.936dup (p.Pro313fs)
|
rs2105627349
|
|
NM_001379200.1(TBX1):c.437+1G>C
|
|
|
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)
|
rs1936727304
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
NM_001379291.1(BRD4):c.3282+2T>C
|
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
NM_002397.5(MEF2C):c.258+1G>A
|
rs1064797310
|
|
NM_002397.5(MEF2C):c.258+5G>C
|
rs2153073717
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
|
rs1772953161
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
NM_002397.5(MEF2C):c.835-2A>G
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
NM_002536.4(TBC1D25):c.4609C>T
|
rs1602125411
|
|
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs)
|
rs2129224609
|
|
NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)
|
|
|
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
|
|
|
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys)
|
rs1591908680
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
|
|
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
|
rs1591908568
|
|
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
|
|
|
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
|
rs1565669640
|
|
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)
|
rs773832380
|
|
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)
|
rs1942462618
|
|
NM_006940.6(SOX5):c.1789A>G (p.Met597Val)
|
rs1940534444
|
|
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)
|
rs1591833522
|
|
NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)
|
|
|
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)
|
rs1591833159
|
|
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)
|
rs1135401816
|
|
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
|
|
|
NM_006940.6(SOX5):c.392del (p.Thr131fs)
|
|
|
NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
|
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)
|
rs767241917
|
|
NM_006940.6(SOX5):c.721del (p.Ala241fs)
|
|
|
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
|
|
|
NM_006940.6(SOX5):c.932-2A>C
|
|
|
NM_006940.6(SOX5):c.956del (p.Ile319fs)
|
|
|
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)
|
rs1590962541
|
|
NM_014679.5(CEP57):c.46-2A>T
|
|
|
NM_014679.5(CEP57):c.622-2A>G
|
|
|
NM_014679.5(CEP57):c.699+1G>T
|
|
|
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
|
|
|
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs)
|
rs2132826154
|
|
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter)
|
rs753403940
|
|
NM_016628.5(WAC):c.1407del (p.Ser470fs)
|
rs2132834429
|
|
NM_016628.5(WAC):c.1746+1G>A
|
rs1554791975
|
|
NM_016628.5(WAC):c.1747-2A>G
|
|
|
NM_016628.5(WAC):c.272del (p.Gly91fs)
|
|
|
NM_016628.5(WAC):c.275-1G>A
|
rs2132628986
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
NM_016628.5(WAC):c.438del (p.Tyr147fs)
|
rs2132669171
|
|
NM_016628.5(WAC):c.472dup (p.Glu158fs)
|
rs2132669368
|
|
NM_016628.5(WAC):c.497+2T>G
|
|
|
NM_016628.5(WAC):c.610+2T>G
|
|
|
NM_016628.5(WAC):c.67C>T (p.Gln23Ter)
|
rs1836464000
|
|
NM_016628.5(WAC):c.811C>T (p.Gln271Ter)
|
rs2132709607
|
|
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter)
|
rs2140717180
|
|
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter)
|
rs2140717041
|
|
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
|
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
|
|
|
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter)
|
rs2140715275
|
|
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)
|
rs1595332731
|
|
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
|
|
|
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
|
|
|
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter)
|
rs768844200
|
|
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
|
|
|
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs)
|
rs2140713406
|
|
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)
|
|
|
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs)
|
rs1890358679
|
|
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)
|
rs1890356742
|
|
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs)
|
rs998860333
|
|
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs)
|
rs2140711872
|
|
NM_019066.5(MAGEL2):c.648del (p.Thr217fs)
|
rs2140718089
|
|
NM_022455.4:c.5623-?_c.8091+?del
|
|
|
NM_022455.4:c.928-10312_3797-10414del
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
|
|
|
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
|
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
NM_022455.5(NSD1):c.197dup (p.Ser67fs)
|
rs1756220614
|
|
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)
|
rs374740802
|
|
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
|
|
|
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
|
|
|
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)
|
rs2149846876
|
|
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)
|
rs1554189972
|
|
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
|
rs1763367673
|
|
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)
|
rs1763389239
|
|
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
|
|
|
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
|
|
|
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
|
|
|
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
|
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4379-2A>G
|
rs1581429903
|
|
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)
|
rs1581433729
|
|
NM_022455.5(NSD1):c.4642-2A>G
|
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
|
|
|
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)
|
rs2149912373
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
|
|
|
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
|
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)
|
rs1756866850
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
|
|
|
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)
|
rs1562278357
|
|
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)
|
rs587784140
|
|
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
|
rs587784140
|
|
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)
|
|
|
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro)
|
rs587784144
|
|
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)
|
rs2149934419
|
|
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)
|
rs587784146
|
|
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly)
|
rs587784150
|
|
NM_022455.5(NSD1):c.5474dup (p.Met1826fs)
|
rs1757806263
|
|
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
|
|
|
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
|
|
|
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
|
rs1758797036
|
|
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
|
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)
|
rs2127257129
|
|
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)
|
rs1562292890
|
|
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
|
|
|
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)
|
rs1554204122
|
|
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)
|
rs1554204122
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)
|
rs886041219
|
|
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
|
|
|
NM_022455.5(NSD1):c.5892+1G>A
|
rs886039579
|
|
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
|
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)
|
rs1057516048
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6068_6151+174del
|
rs2127262979
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
|
|
|
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)
|
rs1581548112
|
|
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
|
|
|
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)
|
rs1554206783
|
|
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)
|
rs1562305653
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)
|
rs1562305920
|
|
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
|
rs1759885769
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)
|
rs1760056582
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)
|
rs2127279302
|
|
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
|
rs398124382
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
|
|
|
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)
|
rs1554207316
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)
|
rs1760068807
|
|
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)
|
rs1554207690
|
|
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs)
|
rs2127282070
|
|
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
|
|
|
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
|
|
|
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
|
|
|
NM_024426.6(WT1):c.1016+1G>A
|
rs2133032244
|
|
NM_024426.6(WT1):c.1016+2T>G
|
rs1852674417
|
|
NM_024426.6(WT1):c.1114-1G>T
|
rs1851976798
|
|
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)
|
rs121907905
|
|
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)
|
rs121907902
|
|
NM_024426.6(WT1):c.1447+2T>C
|
rs1851829439
|
|
NM_024426.6(WT1):c.512G>T (p.Gly171Val)
|
rs1554946480
|
|
NM_024426.6(WT1):c.965+2T>C
|
|
|
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)
|
rs2143001434
|
|
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
|
|
|
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)
|
rs2032172594
|
|
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)
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rs1598089943
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NM_030665.4(RAI1):c.269del (p.Gly90fs)
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NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
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NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
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NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
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NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
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NM_030665.4(RAI1):c.367dup (p.Ala123fs)
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NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
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NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs)
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rs2143003540
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NM_030665.4(RAI1):c.5709+5G>C
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rs2143006568
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NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
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NM_030665.4(RAI1):c.859C>T (p.Gln287Ter)
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rs2032121558
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NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
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rs1555910143
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NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
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rs762292772
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NM_078480.3(PUF60):c.1381-2A>G
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rs1057518681
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NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg)
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rs2130205866
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NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)
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rs1816336903
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NM_078480.3(PUF60):c.1550T>G (p.Val517Gly)
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rs2130202692
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NM_078480.3(PUF60):c.1558del (p.Ser520fs)
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rs1586555859
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NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)
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NM_078480.3(PUF60):c.207+1G>A
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NM_078480.3(PUF60):c.24+1G>T
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rs1064795388
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NM_078480.3(PUF60):c.274C>T (p.Gln92Ter)
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rs1210239952
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NM_078480.3(PUF60):c.389G>A (p.Arg130His)
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rs1554643584
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NM_078480.3(PUF60):c.389G>C (p.Arg130Pro)
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rs1554643584
|
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NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)
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rs2130257405
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NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
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rs1131692232
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NM_078480.3(PUF60):c.464del (p.Ile155fs)
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rs1816624373
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NM_078480.3(PUF60):c.472del (p.Ile158fs)
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rs2130256693
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NM_078480.3(PUF60):c.505C>T (p.His169Tyr)
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rs398123001
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NM_078480.3(PUF60):c.612_630del (p.Asn207fs)
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rs1816565452
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NM_078480.3(PUF60):c.619_637del (p.Asn207fs)
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rs1554643142
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NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
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|
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NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser)
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rs1816558436
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NM_078480.3(PUF60):c.713C>G (p.Ser238Ter)
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rs1554643099
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NM_078480.3(PUF60):c.803_809del (p.Gly268fs)
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rs2130244708
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NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
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|
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NM_078480.3(PUF60):c.931del (p.Thr311fs)
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rs1586565506
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NM_080647.1(TBX1):c.34+2T>A
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|
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NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
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rs2145836461
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NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
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rs1131690841
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NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
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rs1131690833
|
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NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
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Single allele
|
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