NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)
|
rs138040512
|
0.00042
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
|
rs370167241
|
0.00016
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser)
|
rs140344071
|
0.00010
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)
|
rs370593530
|
0.00007
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)
|
rs143152112
|
0.00005
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)
|
rs61737172
|
0.00003
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_133433.4(NIPBL):c.611-10T>C
|
rs368836554
|
0.00002
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005445.4(SMC3):c.2299T>C (p.Leu767=)
|
rs139763232
|
0.00001
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)
|
rs587783908
|
0.00001
|
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)
|
rs587783916
|
0.00001
|
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)
|
rs587783920
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys)
|
rs587783935
|
0.00001
|
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=)
|
rs587784028
|
0.00001
|
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)
|
rs587784046
|
0.00001
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)
|
rs1553608812
|
|
NM_001429.4(EP300):c.1529-8T>C
|
rs587783621
|
|
NM_001429.4(EP300):c.3665C>A (p.Pro1222His)
|
rs7285319
|
|
NM_001429.4(EP300):c.4836dup (p.Val1613fs)
|
rs797045559
|
|
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp)
|
rs797045727
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
|
rs104894311
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_004247.4(EFTUD2):c.1149+1G>C
|
rs797045550
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
|
rs1555564341
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
NM_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
|
rs587783465
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)
|
rs587783468
|
|
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
|
rs587783469
|
|
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
|
rs797045483
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro)
|
rs587783472
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
|
rs797045485
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
NM_004380.3(CREBBP):c.299del (p.Gly100fs)
|
rs587783477
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
|
rs797045491
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)
|
rs587783484
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)
|
rs587783487
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu)
|
rs587783501
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)
|
rs1341894581
|
|
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys)
|
rs1553567411
|
|
NM_004826.4(ECEL1):c.1797-8G>A
|
rs1553566820
|
|
NM_004826.4(ECEL1):c.509del (p.Gly170fs)
|
rs1553567937
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp)
|
rs776056911
|
|
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu)
|
rs76568464
|
|
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln)
|
rs587784427
|
|
NM_005445.4(SMC3):c.2427+13C>T
|
rs190798929
|
|
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro)
|
rs797045996
|
|
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg)
|
rs112281749
|
|
NM_005445.4(SMC3):c.2964T>C (p.Asp988=)
|
rs111611128
|
|
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)
|
rs901512521
|
|
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)
|
rs113411202
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup)
|
rs797045997
|
|
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)
|
rs797045954
|
|
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)
|
rs797045955
|
|
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)
|
rs797045956
|
|
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)
|
rs797045957
|
|
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)
|
rs1554612096
|
|
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)
|
rs797045907
|
|
NM_006265.3(RAD21):c.579dup (p.Glu194fs)
|
rs797045908
|
|
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)
|
rs797045909
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)
|
rs587784404
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)
|
rs587784406
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)
|
rs797045992
|
|
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.2327T>A (p.Val776Glu)
|
rs587784410
|
|
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)
|
rs587784411
|
|
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.3070A>T (p.Asn1024Tyr)
|
rs587784415
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)
|
rs587784419
|
|
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)
|
rs587784420
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_018486.3(HDAC8):c.-5G>T
|
rs587783662
|
|
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.229C>T (p.Gln77Ter)
|
rs797045611
|
|
NM_018486.3(HDAC8):c.24G>A (p.Ala8=)
|
rs61736843
|
|
NM_018486.3(HDAC8):c.421_423del (p.Trp141del)
|
rs587783664
|
|
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys)
|
rs797045612
|
|
NM_018486.3(HDAC8):c.770C>A (p.Pro257His)
|
rs797045613
|
|
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)
|
rs751858602
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
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.1086_1087del (p.Arg364fs)
|
rs587783880
|
|
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.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
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.145G>T (p.Glu49Ter)
|
rs587783886
|
|
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)
|
rs587783887
|
|
NM_133433.4(NIPBL):c.1496-8A>G
|
rs797045747
|
|
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)
|
rs587783888
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)
|
rs797045748
|
|
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del)
|
rs587783893
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)
|
rs587783895
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)
|
rs797045749
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
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.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.2471C>T (p.Ser824Leu)
|
rs587783904
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
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.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
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.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.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala)
|
rs587783915
|
|
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.3122-2A>G
|
rs587783918
|
|
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter)
|
rs1554019663
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
NM_133433.4(NIPBL):c.3304+5G>A
|
rs80358356
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)
|
rs587783921
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
NM_133433.4(NIPBL):c.345A>G (p.Arg115=)
|
rs587783922
|
|
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer)
|
rs587783923
|
|
NM_133433.4(NIPBL):c.3503-9T>G
|
rs587783924
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
NM_133433.4(NIPBL):c.358+5G>C
|
rs587783928
|
|
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)
|
rs1554020997
|
|
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs)
|
rs587783930
|
|
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del)
|
rs587783931
|
|
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser)
|
rs587783932
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.3856-12A>C
|
rs199847583
|
|
NM_133433.4(NIPBL):c.3856-7_3856-5del
|
rs797045757
|
|
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.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.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+2dup
|
rs797045758
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr)
|
rs587783947
|
|
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser)
|
rs80358358
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter)
|
rs797045760
|
|
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.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.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>C
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs)
|
rs587783957
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
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.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu)
|
rs587783966
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
NM_133433.4(NIPBL):c.5329-1G>C
|
rs587783969
|
|
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser)
|
rs587783970
|
|
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter)
|
rs587783971
|
|
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.5456G>A (p.Arg1819Gln)
|
rs80358366
|
|
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr)
|
rs587783976
|
|
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)
|
rs587783977
|
|
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.5566A>G (p.Arg1856Gly)
|
rs80358373
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs)
|
rs797045772
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
NM_133433.4(NIPBL):c.5709+2T>G
|
rs587783980
|
|
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro)
|
rs587783982
|
|
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs)
|
rs797045773
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del)
|
rs587783987
|
|
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe)
|
rs587783986
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg)
|
rs587783989
|
|
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn)
|
rs587783990
|
|
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg)
|
rs587783991
|
|
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu)
|
rs587783992
|
|
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.6108+7A>G
|
rs587783995
|
|
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro)
|
rs587783997
|
|
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro)
|
rs587783998
|
|
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu)
|
rs587783999
|
|
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val)
|
rs587784000
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu)
|
rs587784002
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NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
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rs1554031864
|
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NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly)
|
rs587784003
|
|
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu)
|
rs587784004
|
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NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
NM_133433.4(NIPBL):c.6343+5G>A
|
rs80358383
|
|
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser)
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rs587784007
|
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NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del)
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rs587784008
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
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NM_133433.4(NIPBL):c.64+3A>C
|
rs587784010
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
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rs1554032085
|
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NM_133433.4(NIPBL):c.65-5A>G
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rs587784012
|
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NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala)
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rs587784014
|
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NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
NM_133433.4(NIPBL):c.6590-2A>C
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rs587784016
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
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rs587784017
|
|
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del)
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rs587784019
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NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter)
|
rs80358363
|
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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
|
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NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
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rs587784023
|
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NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
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rs797045778
|
|
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)
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rs192822119
|
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NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg)
|
rs797045779
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly)
|
rs80358376
|
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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.6935G>T (p.Gly2312Val)
|
rs587784025
|
|
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter)
|
rs587784026
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
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.7024C>T (p.Leu2342Phe)
|
rs587784031
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
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>A (p.Gly2381Ser)
|
rs587784035
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser)
|
rs80358384
|
|
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr)
|
rs587784039
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del)
|
rs587784040
|
|
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del)
|
rs587784041
|
|
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.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp)
|
rs587784045
|
|
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs)
|
rs587784047
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
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.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro)
|
rs587784053
|
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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.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu)
|
rs797045788
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)
|
rs587784057
|
|
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.892C>T (p.Gln298Ter)
|
rs587784062
|
|
NM_133433.4(NIPBL):c.892del (p.Gln298fs)
|
rs587784063
|
|
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
|
rs587784064
|
|
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
|