NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)
|
rs782176647
|
0.00002
|
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)
|
rs397515417
|
0.00001
|
NC_000005.10:g.(?_36877164)_(37064912_?)del
|
|
|
NC_000005.10:g.(?_36953616)_(37017182_?)del
|
|
|
NC_000005.10:g.(?_37038582)_(37038758_?)del
|
|
|
NC_000005.10:g.(?_37044327)_(37049321_?)del
|
|
|
NC_000005.9:g.(?_36953718)_(37027534_?)del
|
|
|
NC_000005.9:g.(?_36953799)_(37064994_?)del
|
|
|
NC_000005.9:g.(?_36958186)_(36962396_?)del
|
|
|
NC_000005.9:g.(?_36970958)_(37371079_?)del
|
|
|
NC_000005.9:g.(?_37002744)_(37008845_?)del
|
|
|
NC_000005.9:g.(?_37036461)_(37036609_?)del
|
|
|
NC_000008.11:g.(?_116857267)_(116863259_?)del
|
|
|
NC_000023.10:g.(?_53222149)_(55057617_?)del
|
|
|
NC_000023.10:g.(?_53430478)_(53432101_?)del
|
|
|
NC_000023.10:g.(?_53430478)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53435973)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53448825)_(53449569_?)del
|
|
|
NC_000023.10:g.(?_53449431)_(53449549_?)del
|
|
|
NC_000023.10:g.(?_71681834)_(71681968_?)del
|
|
|
NC_000023.10:g.71681853_72434328del752476
|
|
|
NIPBL, IVS44DS, A-G, +4
|
|
|
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter)
|
rs727503777
|
|
NM_001379291.1(BRD4):c.4020+1G>A
|
rs2145497734
|
|
NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs)
|
rs1590556722
|
|
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del)
|
rs1861074646
|
|
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu)
|
rs863225258
|
|
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del)
|
rs863223279
|
|
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys)
|
rs863225260
|
|
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
|
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala)
|
rs863225261
|
|
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile)
|
rs2134745322
|
|
NM_005445.4(SMC3):c.2536-5_2541del
|
rs727503775
|
|
NM_005445.4(SMC3):c.2750A>C (p.His917Pro)
|
rs797044861
|
|
NM_005445.4(SMC3):c.703_705del (p.Thr235del)
|
rs863225259
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
|
|
|
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)
|
rs387907212
|
|
NM_006265.3(RAD21):c.1161+1G>A
|
rs1563689416
|
|
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs)
|
rs1812376090
|
|
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)
|
rs1563688680
|
|
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)
|
rs748575266
|
|
NM_006265.3(RAD21):c.144+1G>A
|
rs1586275911
|
|
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs)
|
rs1812331711
|
|
NM_006265.3(RAD21):c.1550dup (p.Glu518fs)
|
rs1563687901
|
|
NM_006265.3(RAD21):c.1621-384_1704+199del
|
|
|
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
|
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)
|
rs1563686762
|
|
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)
|
rs1554612096
|
|
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter)
|
rs1425483905
|
|
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
|
|
|
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter)
|
rs1554612093
|
|
NM_006265.3(RAD21):c.3G>A (p.Met1Ile)
|
rs1586276006
|
|
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter)
|
rs1812515682
|
|
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)
|
rs797045907
|
|
NM_006265.3(RAD21):c.579dup (p.Glu194fs)
|
rs797045908
|
|
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)
|
rs1352385210
|
|
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)
|
rs797045909
|
|
NM_006265.3(RAD21):c.593dup (p.Ser198fs)
|
rs2130469261
|
|
NM_006265.3(RAD21):c.683del (p.Ile228fs)
|
|
|
NM_006265.3(RAD21):c.704del (p.Ser235fs)
|
rs1812478613
|
|
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs)
|
rs1812700165
|
|
NM_006265.3(RAD21):c.943_946del (p.Glu315fs)
|
rs2130463115
|
|
NM_006306.4(SMC1A):c.109+575dup
|
rs2075758478
|
|
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)
|
rs2146614137
|
|
NM_006306.4(SMC1A):c.1114-2A>G
|
rs1569358628
|
|
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)
|
rs1057518670
|
|
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter)
|
rs2146604602
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)
|
rs1602411858
|
|
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
|
|
|
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs)
|
rs1057519398
|
|
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
|
|
|
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala)
|
rs122454122
|
|
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
|
rs2075701790
|
|
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)
|
rs122454123
|
|
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)
|
rs1556890135
|
|
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)
|
rs2075726992
|
|
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg)
|
rs2146600076
|
|
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
|
|
|
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
|
|
|
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)
|
rs1602410239
|
|
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
|
|
|
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)
|
rs2075687166
|
|
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
|
|
|
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter)
|
rs1569356968
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs)
|
rs2146599324
|
|
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
|
|
|
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
|
rs2075685944
|
|
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter)
|
rs2146599304
|
|
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)
|
rs1556889269
|
|
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg)
|
rs2146598316
|
|
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
|
|
|
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
|
rs387906702
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)
|
rs797045993
|
|
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)
|
rs1569356555
|
|
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)
|
rs2146598241
|
|
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)
|
rs2146595540
|
|
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)
|
rs1602407457
|
|
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
|
|
|
NM_006306.4(SMC1A):c.2547del (p.Ile849fs)
|
rs797045069
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)
|
rs1602405588
|
|
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)
|
rs2146593421
|
|
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)
|
rs863225458
|
|
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys)
|
rs2146606642
|
|
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)
|
rs1602404847
|
|
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
|
|
|
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter)
|
rs2146592415
|
|
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)
|
rs2146592407
|
|
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
|
rs1556887759
|
|
NM_006306.4(SMC1A):c.2973+1G>A
|
|
|
NM_006306.4(SMC1A):c.2974-2A>G
|
rs727503774
|
|
NM_006306.4(SMC1A):c.298+2T>C
|
|
|
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)
|
rs1602398950
|
|
NM_006306.4(SMC1A):c.302del (p.Gly101fs)
|
rs2146606566
|
|
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
|
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
|
rs2075591559
|
|
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)
|
rs2146582701
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)
|
rs1569351907
|
|
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)
|
rs797044896
|
|
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)
|
rs1556886034
|
|
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
|
rs2075587887
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
|
|
|
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
|
|
|
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
|
rs2075586377
|
|
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)
|
rs2146582432
|
|
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
|
|
|
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)
|
rs1556885810
|
|
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)
|
rs863225459
|
|
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
|
|
|
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
|
|
|
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
|
rs2075725850
|
|
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
|
rs2075725792
|
|
NM_006306.4(SMC1A):c.481del (p.Ser161fs)
|
rs2146605644
|
|
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
|
|
|
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
|
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs)
|
rs2146605568
|
|
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.587G>A (p.Arg196His)
|
rs1556890815
|
|
NM_006306.4(SMC1A):c.615+2T>C
|
rs868985177
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter)
|
rs2146605443
|
|
NM_006306.4(SMC1A):c.655del (p.Ala219fs)
|
rs1569359048
|
|
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs)
|
rs2146605369
|
|
NM_006306.4(SMC1A):c.761del (p.Lys254fs)
|
rs2146605339
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
|
|
|
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
|
|
|
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg)
|
rs397515418
|
|
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
|
|
|
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs)
|
rs1556165162
|
|
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)
|
rs1555948969
|
|
NM_018486.3(HDAC8):c.1112-4_1116del
|
rs1602491207
|
|
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)
|
rs587783663
|
|
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)
|
rs797045610
|
|
NM_018486.3(HDAC8):c.164+2dup
|
rs2147614590
|
|
NM_018486.3(HDAC8):c.164+5G>A
|
rs398122888
|
|
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)
|
rs797045611
|
|
NM_018486.3(HDAC8):c.295+2T>G
|
rs2051897517
|
|
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg)
|
rs587779380
|
|
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)
|
rs587779380
|
|
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu)
|
rs2148144488
|
|
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)
|
rs397515415
|
|
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
|
rs886041936
|
|
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)
|
rs146015223
|
|
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter)
|
rs146015223
|
|
NM_018486.3(HDAC8):c.539A>G (p.His180Arg)
|
rs397515416
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
|
|
|
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer)
|
rs2147618568
|
|
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
|
|
|
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)
|
rs886041838
|
|
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter)
|
rs2148045934
|
|
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)
|
rs1569316085
|
|
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile)
|
rs2148039184
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
NM_133433.4(NIPBL):c.-321_-320delinsA
|
rs724159980
|
|
NM_133433.4(NIPBL):c.-467C>T
|
rs1251456909
|
|
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs)
|
rs1743386760
|
|
NM_133433.4(NIPBL):c.1003del (p.Glu335fs)
|
rs587783877
|
|
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)
|
rs587783878
|
|
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)
|
rs587783879
|
|
NM_133433.4(NIPBL):c.1075dup (p.Thr359fs)
|
|
|
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs)
|
rs587783880
|
|
NM_133433.4(NIPBL):c.10dup (p.Asp4fs)
|
rs2149597479
|
|
NM_133433.4(NIPBL):c.1145del (p.Asn382fs)
|
rs1554015145
|
|
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)
|
rs797045745
|
|
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)
|
rs587783882
|
|
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)
|
rs587783883
|
|
NM_133433.4(NIPBL):c.1320del (p.Asn440fs)
|
rs1580373035
|
|
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
|
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)
|
rs797045746
|
|
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter)
|
rs1561102868
|
|
NM_133433.4(NIPBL):c.1458dup (p.Glu487Ter)
|
rs2149628965
|
|
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)
|
rs587783886
|
|
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
|
|
|
NM_133433.4(NIPBL):c.150del (p.Asn51fs)
|
rs1554011042
|
|
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)
|
rs34314728
|
|
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)
|
rs587783888
|
|
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
|
|
|
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs)
|
rs1554016981
|
|
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
|
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)
|
rs1740842785
|
|
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)
|
rs1580394197
|
|
NM_133433.4(NIPBL):c.1672del (p.Thr558fs)
|
rs2149643317
|
|
NM_133433.4(NIPBL):c.169del (p.Arg57fs)
|
rs1554011046
|
|
NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA
|
rs2149643267
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer)
|
rs2149643596
|
|
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)
|
rs727503767
|
|
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs)
|
rs2149643696
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)
|
rs1740845459
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
NM_133433.4(NIPBL):c.1942del (p.Thr648fs)
|
rs2149644023
|
|
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs)
|
rs1554017175
|
|
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)
|
rs797045748
|
|
NM_133433.4(NIPBL):c.19del (p.His7fs)
|
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
|
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2120del (p.Gly707fs)
|
rs1580396071
|
|
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)
|
rs1744639200
|
|
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)
|
rs797045749
|
|
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs)
|
rs727503766
|
|
NM_133433.4(NIPBL):c.2207del (p.Pro736fs)
|
rs2149644816
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
NM_133433.4(NIPBL):c.226del (p.His76fs)
|
rs1580323151
|
|
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)
|
rs1580396767
|
|
NM_133433.4(NIPBL):c.230+5G>A
|
rs1580323183
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)
|
rs797045750
|
|
NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs)
|
rs1744682329
|
|
NM_133433.4(NIPBL):c.241del (p.Asp81fs)
|
rs1741183871
|
|
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)
|
rs587783902
|
|
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)
|
rs1554017345
|
|
NM_133433.4(NIPBL):c.2464del (p.Gln822fs)
|
rs797045751
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_133433.4(NIPBL):c.2479del (p.Arg827fs)
|
rs1744695193
|
|
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter)
|
rs587783905
|
|
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter)
|
rs587783906
|
|
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)
|
rs587783907
|
|
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
|
|
|
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)
|
rs1554017441
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
|
|
|
NM_133433.4(NIPBL):c.2711del (p.Arg904fs)
|
rs587783909
|
|
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs)
|
rs587783910
|
|
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter)
|
rs587783911
|
|
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs)
|
rs2149646411
|
|
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)
|
rs797045753
|
|
NM_133433.4(NIPBL):c.2903del (p.Asn968fs)
|
rs587783912
|
|
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)
|
rs797045754
|
|
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs)
|
rs2149646812
|
|
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)
|
rs121918264
|
|
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs)
|
rs2149602979
|
|
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter)
|
rs2149646884
|
|
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs)
|
rs2149646890
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)
|
rs1741192008
|
|
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter)
|
rs2149647035
|
|
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter)
|
rs1554017661
|
|
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs)
|
rs587783917
|
|
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter)
|
rs1554019667
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs)
|
rs2149662539
|
|
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs)
|
rs1554019698
|
|
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
|
rs1580425629
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
NM_133433.4(NIPBL):c.3304+1G>A
|
rs1554019712
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
|
rs2149668942
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter)
|
rs2149669144
|
|
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)
|
rs866740147
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
|
rs1580436698
|
|
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer)
|
rs587783923
|
|
NM_133433.4(NIPBL):c.3482del (p.Pro1161fs)
|
|
|
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
|
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)
|
rs1746711848
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del)
|
rs121918266
|
|
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
|
|
|
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)
|
rs1554020997
|
|
NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
|
|
|
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly)
|
rs121918268
|
|
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter)
|
rs2149607039
|
|
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs)
|
rs1746965734
|
|
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs)
|
rs587783930
|
|
NM_133433.4(NIPBL):c.3855+1G>A
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs)
|
rs587783934
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
|
rs1580451470
|
|
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter)
|
rs1561145912
|
|
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)
|
rs587783937
|
|
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter)
|
rs587783938
|
|
NM_133433.4(NIPBL):c.4088-2A>T
|
rs587783939
|
|
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs)
|
rs587783940
|
|
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
|
rs587783941
|
|
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs)
|
|
|
NM_133433.4(NIPBL):c.4240-1G>C
|
rs587783942
|
|
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs)
|
rs587783944
|
|
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs)
|
rs80358386
|
|
NM_133433.4(NIPBL):c.4320+1G>A
|
rs587783945
|
|
NM_133433.4(NIPBL):c.4320+5G>A
|
|
|
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu)
|
rs727503769
|
|
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
|
|
|
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter)
|
rs767317539
|
|
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs)
|
rs2149607105
|
|
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs)
|
rs2149681441
|
|
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter)
|
rs797045760
|
|
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs)
|
rs2149681475
|
|
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter)
|
rs80358369
|
|
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs)
|
rs797045761
|
|
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer)
|
rs797045762
|
|
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter)
|
rs587783950
|
|
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)
|
rs751902505
|
|
NM_133433.4(NIPBL):c.456del (p.Ser153fs)
|
rs587783951
|
|
NM_133433.4(NIPBL):c.458+1_458+2dup
|
rs797045763
|
|
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs)
|
rs797045764
|
|
NM_133433.4(NIPBL):c.459-2A>G
|
rs1561083229
|
|
NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter)
|
rs587783952
|
|
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter)
|
rs587783952
|
|
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)
|
rs121918269
|
|
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs)
|
rs587783953
|
|
NM_133433.4(NIPBL):c.4643+1G>A
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4643+1G>C
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer)
|
rs2149690678
|
|
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs)
|
rs587783957
|
|
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs)
|
rs1554023967
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
|
|
|
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
|
|
|
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer)
|
rs886041810
|
|
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs)
|
rs80358372
|
|
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs)
|
rs587783959
|
|
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs)
|
rs797045766
|
|
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs)
|
rs797045767
|
|
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer)
|
rs797045768
|
|
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs)
|
rs587783960
|
|
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
|
rs797045769
|
|
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs)
|
rs797045770
|
|
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
|
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter)
|
rs730880331
|
|
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter)
|
rs1554025252
|
|
NM_133433.4(NIPBL):c.5269del (p.Val1757fs)
|
rs2149696978
|
|
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter)
|
|
|
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)
|
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.5329-1G>C
|
rs587783969
|
|
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter)
|
rs587783971
|
|
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
|
|
|
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter)
|
rs587783972
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
|
rs587783973
|
|
NM_133433.4(NIPBL):c.5428-2A>G
|
rs587783974
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter)
|
rs587783975
|
|
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter)
|
rs62654864
|
|
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)
|
rs587783978
|
|
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp)
|
rs1749739420
|
|
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter)
|
rs1554025780
|
|
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile)
|
rs1554025796
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs)
|
rs2149702380
|
|
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs)
|
rs797045772
|
|
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
|
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
NM_133433.4(NIPBL):c.5709+2T>G
|
rs587783980
|
|
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs)
|
rs2149704475
|
|
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs)
|
rs797045773
|
|
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser)
|
rs2149704501
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.5808+2T>C
|
rs794727556
|
|
NM_133433.4(NIPBL):c.5808+5G>A
|
rs2149704635
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.5972-1G>C
|
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
|
|
|
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs)
|
rs2149721417
|
|
NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs)
|
rs2149721484
|
|
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs)
|
rs1554030285
|
|
NM_133433.4(NIPBL):c.610+1G>A
|
rs587783993
|
|
NM_133433.4(NIPBL):c.6108+1G>T
|
rs587783994
|
|
NM_133433.4(NIPBL):c.6108+2T>C
|
rs797045775
|
|
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
|
|
|
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
|
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
NM_133433.4(NIPBL):c.6249+5G>A
|
|
|
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
|
rs1554031864
|
|
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter)
|
rs2149732594
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
|
NM_133433.4(NIPBL):c.64+2_64+134del
|
rs1740652803
|
|
NM_133433.4(NIPBL):c.64+3A>C
|
rs587784010
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
|
rs1554032085
|
|
NM_133433.4(NIPBL):c.65-3T>G
|
rs727503768
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
|
|
|
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
NM_133433.4(NIPBL):c.6589+5G>A
|
rs1554032266
|
|
NM_133433.4(NIPBL):c.6590-2A>C
|
rs587784016
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
|
rs587784017
|
|
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr)
|
rs1753199066
|
|
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter)
|
rs80358363
|
|
NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu)
|
rs1554032789
|
|
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs)
|
rs80358361
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)
|
rs587784022
|
|
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer)
|
rs587784021
|
|
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs)
|
rs2149737037
|
|
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
|
rs1579570362
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6763+1G>A
|
rs1753212131
|
|
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter)
|
rs1554032954
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=)
|
|
|
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
|
|
|
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter)
|
rs587784026
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
NM_133433.4(NIPBL):c.6955-2A>C
|
rs2149741447
|
|
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs)
|
rs1561214997
|
|
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs)
|
rs587784029
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs)
|
rs2149741562
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
|
|
|
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter)
|
rs587784033
|
|
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs)
|
rs587784034
|
|
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
|
|
|
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter)
|
rs1057516034
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro)
|
rs765741574
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys)
|
rs121918265
|
|
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs)
|
rs1561222491
|
|
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val)
|
rs2149750114
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)
|
rs587784043
|
|
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
|
|
|
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
|
|
|
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro)
|
rs727503772
|
|
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs)
|
rs587784047
|
|
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs)
|
rs1554035266
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs)
|
rs1754594011
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter)
|
rs80358371
|
|
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs)
|
rs797045783
|
|
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs)
|
rs2149755630
|
|
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
|
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs)
|
rs1754603855
|
|
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
|
|
|
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer)
|
rs2149755687
|
|
NM_133433.4(NIPBL):c.7861-1G>C
|
rs1561231553
|
|
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs)
|
rs727503771
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)
|
rs2149621638
|
|
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs)
|
rs2149759954
|
|
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs)
|
rs1755082448
|
|
NM_133433.4(NIPBL):c.8049+1G>A
|
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs)
|
rs797045787
|
|
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs)
|
rs587784055
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer)
|
rs1755224830
|
|
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs)
|
rs797045789
|
|
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
|
rs398124474
|
|
NM_133433.4(NIPBL):c.869-1G>A
|
rs587784059
|
|
NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
|
|
|
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)
|
rs587784062
|
|
NM_133433.4(NIPBL):c.892del (p.Gln298fs)
|
rs587784063
|
|
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter)
|
rs727503770
|
|
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
|
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)
|
rs727503778
|
|
SMC1A, 8.152-KB DEL
|
|
|
Single allele
|
|
|