|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
|
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)
|
rs28989187
|
0.00049
|
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
|
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_001211.6(BUB1B):c.2386-11A>G
|
rs751421137
|
0.00003
|
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
|
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter)
|
rs121918161
|
0.00003
|
|
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)
|
rs28989181
|
0.00002
|
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
|
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
|
rs28989186
|
0.00001
|
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
|
GATA3, 250-KB DEL
|
|
|
|
GATA3, 900-KB DEL
|
|
|
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
|
GRCh38/hg38 Xq28(chrX:153905292-154361918)
|
|
|
|
MBD5, THR157GLNFSTER4
|
|
|
|
NC_000001.10:g.61497698_61607171del
|
|
|
|
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
|
|
|
|
NC_000005.10:(?_177131798)_(177300213_)?)del
|
|
|
|
NC_000005.9:g.(?_126102443)_(126199753_?)dup
|
|
|
|
NC_000012.11:g.23979791_24033225del
|
|
|
|
NC_000012.12:g.23484745_23564581del
|
|
|
|
NC_000012.12:g.23488792_23626279del
|
|
|
|
NC_000012.12:g.23771866_23888764del
|
|
|
|
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del
|
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
|
NC_000023.11:g.153696346_153701690del
|
|
|
|
NG_011787.1:g.(205313_260238)_(334455_354191)del
|
|
|
|
NG_017003.3:g.262835_474705del
|
|
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
|
NM_000057.4(BLM):c.2308-953_2555+4719del
|
|
|
|
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)
|
rs137853153
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691
|
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
|
NM_000612.6(IGF2):c.101G>A (p.Gly34Asp)
|
rs1858937182
|
|
|
NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs)
|
rs1858936079
|
|
|
NM_000612.6(IGF2):c.157+3A>C
|
rs1858932834
|
|
|
NM_000612.6(IGF2):c.195del (p.Ile66fs)
|
rs1858779370
|
|
|
NM_000612.6(IGF2):c.23C>A (p.Ser8Ter)
|
rs869320620
|
|
|
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr)
|
rs387906621
|
|
|
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)
|
rs104894165
|
|
|
NM_001002295.2(GATA3):c.108_109del (p.Met36fs)
|
rs1588374920
|
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
|
NM_001002295.2(GATA3):c.431del (p.Gly144fs)
|
rs1588377948
|
|
|
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
|
|
|
|
NM_001002295.2(GATA3):c.478del (p.Asp160fs)
|
rs1588378126
|
|
|
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)
|
rs104894163
|
|
|
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)
|
rs104894162
|
|
|
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)
|
rs746122348
|
|
|
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs)
|
rs2131501178
|
|
|
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC
|
rs387906551
|
|
|
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del)
|
rs2131511647
|
|
|
NM_001002295.2(GATA3):c.951del (p.Cys318fs)
|
rs2131511714
|
|
|
NM_001013836.2(MAD1L1):c.1882G>T (p.Glu628Ter)
|
|
|
|
NM_001013836.2(MAD1L1):c.196C>T (p.Gln66Ter)
|
|
|
|
NM_001134673.4(NFIA):c.1094del (p.Pro365fs)
|
rs1060505054
|
|
|
NM_001145357.1(SIN3A):c.1010_1013del
|
rs879255619
|
|
|
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)
|
rs879255620
|
|
|
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)
|
rs886037847
|
|
|
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)
|
rs879255621
|
|
|
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)
|
rs879255618
|
|
|
NM_001145358.2(SIN3A):c.848dup (p.His283fs)
|
rs1567368243
|
|
|
NM_001172509.1(SATB2):c.170_346dup
|
rs2105928778
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
|
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser)
|
rs1553544187
|
|
|
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)
|
rs1064795530
|
|
|
NM_001172509.2(SATB2):c.2104del (p.Asp702fs)
|
|
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
|
NM_001211.6(BUB1B):c.1402-1G>T
|
rs1566824774
|
|
|
NM_001211.6(BUB1B):c.1402-5A>G
|
rs1566824771
|
|
|
NM_001211.6(BUB1B):c.1833del (p.Phe611fs)
|
rs1566826570
|
|
|
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs)
|
rs1392909108
|
|
|
NM_001256447.2(BCAP31):c.194-2A>G
|
rs879255569
|
|
|
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)
|
rs397515620
|
|
|
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs)
|
rs1558507406
|
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
|
NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs)
|
rs1555910212
|
|
|
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala)
|
rs397514705
|
|
|
NM_001378120.1(MBD5):c.150del (p.Thr52fs)
|
rs398122412
|
|
|
NM_001378120.1(MBD5):c.217-1G>C
|
rs1707171202
|
|
|
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs)
|
rs748900140
|
|
|
NM_001378414.1(HDAC4):c.490+56_490+120del
|
|
|
|
NM_001379200.1(TBX1):c.1250del (p.Ser417fs)
|
rs1601294362
|
|
|
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
|
|
|
|
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr)
|
rs28939675
|
|
|
NM_001379200.1(TBX1):c.609C>G (p.His203Gln)
|
rs74315522
|
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
|
NM_002397.5(MEF2C):c.-66A>T
|
rs1350600010
|
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
|
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln)
|
rs397514655
|
|
|
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)
|
rs2153074000
|
|
|
NM_002397.5(MEF2C):c.458del (p.Asn153fs)
|
rs730882192
|
|
|
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter)
|
rs267607233
|
|
|
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala)
|
rs397514656
|
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
|
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter)
|
rs2153074822
|
|
|
NM_002655.3(PLAG1):c.1363del (p.Gln455fs)
|
rs1114167318
|
|
|
NM_002655.3(PLAG1):c.439del (p.Ser147fs)
|
rs1114167317
|
|
|
NM_003483.6(HMGA2):c.189del (p.Ala64fs)
|
rs1114167320
|
|
|
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)
|
rs1114167319
|
|
|
NM_003483.6(HMGA2):c.283-6_283del
|
rs1876803958
|
|
|
NM_003483.6(HMGA2):c.303del (p.Ser102fs)
|
rs1876805546
|
|
|
NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter)
|
rs376882637
|
|
|
NM_004237.4(TRIP13):c.673-1G>C
|
rs1131692330
|
|
|
NM_004654.4(USP9Y):c.773+3_773+6del
|
rs778145751
|
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
|
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)
|
rs869025321
|
|
|
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)
|
rs387906977
|
|
|
NM_014679.5(CEP57):c.520_521del (p.Glu174fs)
|
rs1565326373
|
|
|
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)
|
rs1166323407
|
|
|
NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)
|
|
|
|
NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)
|
|
|
|
NM_015110.4(SMC5):c.2968C>G (p.His990Asp)
|
|
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
|
NM_016628.5(WAC):c.112del (p.Ser38fs)
|
rs864321693
|
|
|
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter)
|
rs864321690
|
|
|
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter)
|
rs864321634
|
|
|
NM_016628.5(WAC):c.263_266del (p.Glu88fs)
|
rs864321689
|
|
|
NM_016628.5(WAC):c.267_268dup (p.Asp90fs)
|
rs864321691
|
|
|
NM_016628.5(WAC):c.374C>A (p.Ser125Ter)
|
rs864321692
|
|
|
NM_018121.4(SLF2):c.1006dup (p.Arg336fs)
|
|
|
|
NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)
|
|
|
|
NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)
|
|
|
|
NM_018121.4(SLF2):c.2719dup (p.Ser907fs)
|
|
|
|
NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)
|
|
|
|
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu)
|
rs1013540105
|
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
|
NM_019066.5(MAGEL2):c.1652del (p.Val551fs)
|
rs398122415
|
|
|
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)
|
rs398122416
|
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
|
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)
|
rs770374710
|
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
|
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs)
|
rs1555374227
|
|
|
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)
|
rs398122418
|
|
|
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)
|
rs398122417
|
|
|
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter)
|
rs121908067
|
|
|
NM_022455.5(NSD1):c.3536del (p.Glu1179fs)
|
rs1562213381
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs)
|
rs1562269320
|
|
|
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs)
|
rs1562295135
|
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
|
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln)
|
rs121908068
|
|
|
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs)
|
rs864309639
|
|
|
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser)
|
rs121908069
|
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
|
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs)
|
rs1562312238
|
|
|
NM_022455.5(NSD1):c.896del (p.Ser299fs)
|
rs1562099585
|
|
|
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
|
|
|
|
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
|
|
|
|
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
|
|
|
|
NM_030665.4(RAI1):c.3801del (p.Thr1268fs)
|
rs1598092236
|
|
|
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg)
|
rs104894634
|
|
|
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
|
|
|
|
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)
|
rs104894633
|
|
|
NM_032322.4(RNF135):c.1015del (p.Val339fs)
|
rs724159978
|
|
|
NM_032322.4(RNF135):c.742del (p.Leu248fs)
|
rs724159977
|
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
|
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)
|
rs1563819620
|
|
|
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)
|
rs1563818514
|
|
|
NM_078480.3(PUF60):c.24+1G>C
|
rs1064795388
|
|
|
NM_078480.3(PUF60):c.407_410del (p.Ile136fs)
|
rs1563826453
|
|
|
NM_078480.3(PUF60):c.505C>T (p.His169Tyr)
|
rs398123001
|
|
|
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)
|
rs1085307135
|
|
|
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter)
|
rs1563823411
|
|
|
NM_198489.3(CENATAC):c.803A>T (p.Glu268Val)
|
|
|
|
NM_198489.3(CENATAC):c.805+2_805+19del
|
|
|
|
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
|
|
|