NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_133433.4(NIPBL):c.4561-16C>T
|
rs115403650
|
0.02404
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)
|
rs16903425
|
0.01529
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)
|
rs35748854
|
0.00882
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_133433.4(NIPBL):c.-312T>A
|
rs540966156
|
0.00284
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_133433.4(NIPBL):c.3502+17A>C
|
rs144725401
|
0.00230
|
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449
|
0.00229
|
NM_133433.4(NIPBL):c.4320+14A>G
|
rs377381536
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_133433.4(NIPBL):c.65-17G>C
|
rs201348552
|
0.00178
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)
|
rs140907869
|
0.00077
|
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
|
rs141851878
|
0.00076
|
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)
|
rs148394805
|
0.00064
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_133433.4(NIPBL):c.-243A>C
|
rs544681871
|
0.00057
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_133433.4(NIPBL):c.5709+4G>A
|
rs370325589
|
0.00050
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785
|
0.00047
|
NM_133433.4(NIPBL):c.804A>G (p.Ala268=)
|
rs144238532
|
0.00046
|
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr)
|
rs138514909
|
0.00043
|
NM_133433.4(NIPBL):c.*334G>A
|
rs181989563
|
0.00040
|
NM_133433.4(NIPBL):c.5011-13A>G
|
rs13177643
|
0.00038
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_133433.4(NIPBL):c.961A>C (p.Arg321=)
|
rs138720101
|
0.00036
|
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)
|
rs142820200
|
0.00032
|
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn)
|
rs781213650
|
0.00031
|
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)
|
rs142703446
|
0.00029
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
NM_133433.4(NIPBL):c.869-16C>T
|
rs3736396
|
0.00022
|
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)
|
rs116049172
|
0.00019
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_133433.4(NIPBL):c.3665-10G>A
|
rs200744764
|
0.00017
|
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)
|
rs560785308
|
0.00016
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
0.00016
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)
|
rs371380435
|
0.00016
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
NM_133433.4(NIPBL):c.-307C>T
|
rs377354585
|
0.00013
|
NM_133433.4(NIPBL):c.1321A>G (p.Thr441Ala)
|
rs144853101
|
0.00013
|
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)
|
rs149186951
|
0.00013
|
NM_133433.4(NIPBL):c.-265A>G
|
rs879291582
|
0.00011
|
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=)
|
rs61755038
|
0.00011
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=)
|
rs141545751
|
0.00011
|
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser)
|
rs140344071
|
0.00010
|
NM_133433.4(NIPBL):c.4776+12G>A
|
rs199632698
|
0.00010
|
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=)
|
rs201036501
|
0.00010
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
NM_133433.4(NIPBL):c.1263G>A (p.Ser421=)
|
rs777731868
|
0.00009
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
NM_133433.4(NIPBL):c.458+7T>C
|
rs200829209
|
0.00009
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
NM_133433.4(NIPBL):c.6590-9C>T
|
rs201043922
|
0.00008
|
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg)
|
rs746789978
|
0.00007
|
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile)
|
rs372162252
|
0.00007
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00007
|
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)
|
rs370593530
|
0.00007
|
NM_133433.4(NIPBL):c.6954+3A>G
|
rs769439754
|
0.00007
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp)
|
rs148420552
|
0.00006
|
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=)
|
rs531615496
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)
|
rs398124470
|
0.00006
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
0.00006
|
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=)
|
rs1286310849
|
0.00006
|
NM_133433.4(NIPBL):c.*551G>C
|
rs760747084
|
0.00005
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp)
|
rs751913459
|
0.00005
|
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala)
|
rs773534683
|
0.00005
|
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)
|
rs143152112
|
0.00005
|
NM_133433.4(NIPBL):c.-410C>T
|
rs886060554
|
0.00004
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)
|
rs371073215
|
0.00004
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val)
|
rs768620796
|
0.00004
|
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)
|
rs188565385
|
0.00004
|
NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg)
|
rs1198125549
|
0.00004
|
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val)
|
rs749926228
|
0.00004
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)
|
rs772009624
|
0.00004
|
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser)
|
rs557147929
|
0.00004
|
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys)
|
rs149451089
|
0.00004
|
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys)
|
rs774109272
|
0.00004
|
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=)
|
rs369177620
|
0.00004
|
NM_133433.4(NIPBL):c.6343+10A>G
|
rs767173489
|
0.00004
|
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser)
|
rs369282785
|
0.00004
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
NM_133433.4(NIPBL):c.948A>G (p.Leu316=)
|
rs201213428
|
0.00004
|
NM_133433.4(NIPBL):c.*32A>T
|
rs758539444
|
0.00003
|
NM_133433.4(NIPBL):c.*545A>G
|
rs886060566
|
0.00003
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
NM_133433.4(NIPBL):c.2555A>G (p.Asn852Ser)
|
rs776280237
|
0.00003
|
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=)
|
rs371566938
|
0.00003
|
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe)
|
rs540365485
|
0.00003
|
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=)
|
rs1356246775
|
0.00003
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
0.00003
|
NM_133433.4(NIPBL):c.458+18C>T
|
rs759013143
|
0.00003
|
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=)
|
rs756897581
|
0.00003
|
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His)
|
rs770286768
|
0.00003
|
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018
|
0.00003
|
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=)
|
rs1187325987
|
0.00003
|
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val)
|
rs141010980
|
0.00002
|
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys)
|
rs571300383
|
0.00002
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
NM_133433.4(NIPBL):c.1383A>G (p.Gln461=)
|
rs1488544687
|
0.00002
|
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly)
|
rs780665254
|
0.00002
|
NM_133433.4(NIPBL):c.2616T>C (p.His872=)
|
rs750703789
|
0.00002
|
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=)
|
rs1038314771
|
0.00002
|
NM_133433.4(NIPBL):c.300G>A (p.Leu100=)
|
rs768550843
|
0.00002
|
NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=)
|
rs776669672
|
0.00002
|
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr)
|
rs747918239
|
0.00002
|
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=)
|
rs768002739
|
0.00002
|
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val)
|
rs1223302517
|
0.00002
|
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=)
|
rs373206831
|
0.00002
|
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys)
|
rs780708835
|
0.00002
|
NM_133433.4(NIPBL):c.5226-4G>A
|
rs370826969
|
0.00002
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
NM_133433.4(NIPBL):c.611-10T>C
|
rs368836554
|
0.00002
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=)
|
rs778876578
|
0.00002
|
NM_133433.4(NIPBL):c.*351G>A
|
rs185780527
|
0.00001
|
NM_133433.4(NIPBL):c.-379G>A
|
rs886060555
|
0.00001
|
NM_133433.4(NIPBL):c.-79-11559C>T
|
rs1436464402
|
0.00001
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser)
|
rs777670369
|
0.00001
|
NM_133433.4(NIPBL):c.1224A>G (p.Gln408=)
|
rs764746811
|
0.00001
|
NM_133433.4(NIPBL):c.123C>T (p.Leu41=)
|
rs774269226
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.1496-9A>G
|
rs754119799
|
0.00001
|
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met)
|
rs574981584
|
0.00001
|
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=)
|
rs760769176
|
0.00001
|
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)
|
rs144289137
|
0.00001
|
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly)
|
rs144812404
|
0.00001
|
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp)
|
rs774516564
|
0.00001
|
NM_133433.4(NIPBL):c.230+10A>T
|
rs1342924796
|
0.00001
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln)
|
rs757394370
|
0.00001
|
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)
|
rs587783908
|
0.00001
|
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)
|
rs201163469
|
0.00001
|
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His)
|
rs918012033
|
0.00001
|
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)
|
rs774346043
|
0.00001
|
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=)
|
rs765887558
|
0.00001
|
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)
|
rs587783916
|
0.00001
|
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp)
|
rs376768802
|
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.3487C>T (p.Pro1163Ser)
|
rs761353689
|
0.00001
|
NM_133433.4(NIPBL):c.3574+20A>C
|
rs530238141
|
0.00001
|
NM_133433.4(NIPBL):c.3574+7C>T
|
rs1382498807
|
0.00001
|
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=)
|
rs372752190
|
0.00001
|
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly)
|
rs775247210
|
0.00001
|
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys)
|
rs587783935
|
0.00001
|
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu)
|
rs770936588
|
0.00001
|
NM_133433.4(NIPBL):c.4087+9G>A
|
rs757255852
|
0.00001
|
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=)
|
rs752419634
|
0.00001
|
NM_133433.4(NIPBL):c.42G>A (p.Ala14=)
|
rs727504045
|
0.00001
|
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe)
|
rs1580456602
|
0.00001
|
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro)
|
rs1056274601
|
0.00001
|
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln)
|
rs200692598
|
0.00001
|
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser)
|
rs150683463
|
0.00001
|
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu)
|
rs886042731
|
0.00001
|
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys)
|
rs1355970346
|
0.00001
|
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)
|
rs775077572
|
0.00001
|
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg)
|
rs775226349
|
0.00001
|
NM_133433.4(NIPBL):c.5225+7T>A
|
rs767449402
|
0.00001
|
NM_133433.4(NIPBL):c.5226-9T>G
|
rs774131588
|
0.00001
|
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=)
|
rs1394378576
|
0.00001
|
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala)
|
rs376084993
|
0.00001
|
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=)
|
rs80358360
|
0.00001
|
NM_133433.4(NIPBL):c.606A>G (p.Gln202=)
|
rs1233849776
|
0.00001
|
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu)
|
rs1742780375
|
0.00001
|
NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp)
|
rs773286952
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=)
|
rs587784028
|
0.00001
|
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=)
|
rs886060559
|
0.00001
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser)
|
rs794727675
|
0.00001
|
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn)
|
rs961989627
|
0.00001
|
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=)
|
rs398124472
|
0.00001
|
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)
|
rs587784046
|
0.00001
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
NC_000005.10:g.(?_36953616)_(37017182_?)del
|
|
|
NC_000005.10:g.(?_37038582)_(37038758_?)del
|
|
|
NC_000005.10:g.(?_37044327)_(37049321_?)del
|
|
|
NC_000005.10:g.(?_37045443)_(37048675_?)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.(?_37002744)_(37008845_?)del
|
|
|
NC_000005.9:g.(?_37002744)_(37046321_?)dup
|
|
|
NC_000005.9:g.(?_37036461)_(37036609_?)del
|
|
|
NC_000005.9:g.(?_37045525)_(37048797_?)del
|
|
|
NC_000005.9:g.(?_37057268)_(37061140_?)del
|
|
|
NIPBL, IVS44DS, A-G, +4
|
|
|
NM_133433.3(NIPBL):c.3856-?_4239+?del
|
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
NM_133433.4(NIPBL):c.*142G>C
|
rs886060562
|
|
NM_133433.4(NIPBL):c.*265_*266del
|
rs886060563
|
|
NM_133433.4(NIPBL):c.*282_*285del
|
rs535770794
|
|
NM_133433.4(NIPBL):c.*354T>C
|
rs1755262500
|
|
NM_133433.4(NIPBL):c.*460del
|
rs768908921
|
|
NM_133433.4(NIPBL):c.*742_*743del
|
rs886060567
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
NM_133433.4(NIPBL):c.-153dup
|
rs567891305
|
|
NM_133433.4(NIPBL):c.-315del
|
|
|
NM_133433.4(NIPBL):c.-321_-320delinsA
|
rs724159980
|
|
NM_133433.4(NIPBL):c.-338C>T
|
rs886060556
|
|
NM_133433.4(NIPBL):c.-416dup
|
rs886060553
|
|
NM_133433.4(NIPBL):c.-424T>C
|
rs886060552
|
|
NM_133433.4(NIPBL):c.-428G>C
|
rs886060551
|
|
NM_133433.4(NIPBL):c.-429del
|
rs376839773
|
|
NM_133433.4(NIPBL):c.-467C>T
|
rs1251456909
|
|
NM_133433.4(NIPBL):c.-80+11G>C
|
rs1257470313
|
|
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs)
|
rs1743386760
|
|
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
|
|
|
NM_133433.4(NIPBL):c.1003del (p.Glu335fs)
|
rs587783877
|
|
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
|
|
|
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
|
|
|
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
|
|
|
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)
|
rs587783878
|
|
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
|
|
|
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)
|
rs587783879
|
|
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg)
|
rs1743395526
|
|
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.1136G>T (p.Gly379Val)
|
|
|
NM_133433.4(NIPBL):c.1145del (p.Asn382fs)
|
rs1554015145
|
|
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)
|
rs797045745
|
|
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys)
|
rs1743404672
|
|
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
|
|
|
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)
|
rs587783882
|
|
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)
|
|
|
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu)
|
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr)
|
rs546539357
|
|
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His)
|
|
|
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly)
|
rs894352601
|
|
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
|
|
|
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
|
|
|
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu)
|
rs1554015229
|
|
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
|
|
|
NM_133433.4(NIPBL):c.1278A>T (p.Thr426=)
|
rs781405794
|
|
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val)
|
rs1743429461
|
|
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)
|
rs587783883
|
|
NM_133433.4(NIPBL):c.1302G>C (p.Val434=)
|
rs769279620
|
|
NM_133433.4(NIPBL):c.1302G>T (p.Val434=)
|
|
|
NM_133433.4(NIPBL):c.1320del (p.Asn440fs)
|
rs1580373035
|
|
NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
|
|
|
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
|
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
|
|
|
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
|
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val)
|
|
|
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
|
|
|
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
|
|
|
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
|
rs1017711925
|
|
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.1469G>A (p.Arg490His)
|
|
|
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)
|
rs587783887
|
|
NM_133433.4(NIPBL):c.1495+11C>G
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
|
|
|
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
|
|
|
NM_133433.4(NIPBL):c.1496-8A>G
|
rs797045747
|
|
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.1560T>G (p.Gly520=)
|
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
|
|
|
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
|
|
|
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)
|
rs1740842785
|
|
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)
|
|
|
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)
|
|
|
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly)
|
rs2149643225
|
|
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)
|
rs1580394197
|
|
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
|
|
|
NM_133433.4(NIPBL):c.1672del (p.Thr558fs)
|
rs2149643317
|
|
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
|
|
|
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
|
|
|
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
|
|
|
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
|
|
|
NM_133433.4(NIPBL):c.169del (p.Arg57fs)
|
rs1554011046
|
|
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
|
|
|
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
|
|
|
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg)
|
rs1744567400
|
|
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg)
|
|
|
NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA
|
rs2149643267
|
|
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
|
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
|
|
|
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
|
|
|
NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer)
|
rs2149643596
|
|
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
|
|
|
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
|
|
|
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)
|
rs727503767
|
|
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)
|
rs1057518944
|
|
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
|
|
|
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs)
|
rs2149643696
|
|
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)
|
|
|
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
|
|
|
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys)
|
rs1744586399
|
|
NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln)
|
rs1744586399
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
|
|
|
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)
|
rs1740845459
|
|
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
|
|
|
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
|
|
|
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile)
|
rs1744597297
|
|
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
|
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
|
|
|
NM_133433.4(NIPBL):c.1942del (p.Thr648fs)
|
rs2149644023
|
|
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala)
|
rs2149644038
|
|
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
|
|
|
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)
|
|
|
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.201_212del (p.His67_Asn70del)
|
rs587783893
|
|
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
|
|
|
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr)
|
rs762097133
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
|
|
|
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)
|
rs587783895
|
|
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
|
|
|
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
|
|
|
NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter)
|
|
|
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
|
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
|
|
|
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser)
|
rs2149599601
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
|
|
|
NM_133433.4(NIPBL):c.2120del (p.Gly707fs)
|
rs1580396071
|
|
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)
|
rs1744639200
|
|
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
|
|
|
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.2187T>A (p.Gly729=)
|
|
|
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
|
|
|
NM_133433.4(NIPBL):c.2207del (p.Pro736fs)
|
rs2149644816
|
|
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
|
|
|
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
|
|
|
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
|
|
|
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro)
|
rs1178033980
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
NM_133433.4(NIPBL):c.226del (p.His76fs)
|
rs1580323151
|
|
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)
|
|
|
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)
|
rs1580396767
|
|
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
|
|
|
NM_133433.4(NIPBL):c.230+18T>C
|
|
|
NM_133433.4(NIPBL):c.230+19A>G
|
|
|
NM_133433.4(NIPBL):c.230+5G>A
|
rs1580323183
|
|
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
|
|
|
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
|
|
|
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
|
|
|
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
|
|
|
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln)
|
rs1744671339
|
|
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
|
|
|
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
|
|
|
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)
|
rs376912534
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
|
|
|
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)
|
rs797045750
|
|
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
|
|
|
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg)
|
rs1744681690
|
|
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.2426C>T (p.Ser809Phe)
|
|
|
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
|
|
|
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
|
|
|
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.2472A>C (p.Ser824=)
|
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_133433.4(NIPBL):c.2479del (p.Arg827fs)
|
rs1744695193
|
|
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
|
|
|
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.2495G>A (p.Arg832Gln)
|
|
|
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)
|
rs587783907
|
|
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
|
|
|
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
|
|
|
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
|
|
|
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu)
|
rs1554017428
|
|
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)
|
rs80358365
|
|
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)
|
rs1554017441
|
|
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
|
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
|
|
|
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
|
|
|
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His)
|
rs775238155
|
|
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
|
|
|
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
|
|
|
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
|
|
|
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
|
|
|
NM_133433.4(NIPBL):c.2711del (p.Arg904fs)
|
rs587783909
|
|
NM_133433.4(NIPBL):c.272_280del (p.Asp91_Pro93del)
|
|
|
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
|
|
|
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
|
|
|
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
|
|
|
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs)
|
rs587783910
|
|
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
|
|
|
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
|
|
|
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter)
|
rs587783911
|
|
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs)
|
rs2149646411
|
|
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr)
|
rs1744758389
|
|
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)
|
rs797045753
|
|
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
|
|
|
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
|
|
|
NM_133433.4(NIPBL):c.2903del (p.Asn968fs)
|
rs587783912
|
|
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
|
|
|
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)
|
rs797045754
|
|
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
|
|
|
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
|
|
|
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
|
|
|
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.3049A>C (p.Ile1017Leu)
|
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg)
|
rs1580399961
|
|
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)
|
|
|
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
|
|
|
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)
|
rs1741192008
|
|
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met)
|
rs1561119475
|
|
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter)
|
rs2149647035
|
|
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
|
|
|
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.3121+19A>C
|
|
|
NM_133433.4(NIPBL):c.3121+7A>C
|
|
|
NM_133433.4(NIPBL):c.3122-17T>G
|
|
|
NM_133433.4(NIPBL):c.3122-2A>G
|
rs587783918
|
|
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
|
|
|
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter)
|
rs1554019663
|
|
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter)
|
rs1554019667
|
|
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
|
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs)
|
rs2149662539
|
|
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile)
|
rs2149662601
|
|
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs)
|
rs1554019698
|
|
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
|
rs1580425629
|
|
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
|
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
|
|
|
NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter)
|
|
|
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
|
|
|
NM_133433.4(NIPBL):c.3304+1G>A
|
rs1554019712
|
|
NM_133433.4(NIPBL):c.3304+5G>A
|
rs80358356
|
|
NM_133433.4(NIPBL):c.3305-17T>C
|
|
|
NM_133433.4(NIPBL):c.3305-18A>G
|
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly)
|
rs2149668934
|
|
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
|
rs2149668942
|
|
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
|
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu)
|
rs1242572717
|
|
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
|
|
|
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly)
|
rs2149669051
|
|
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)
|
|
|
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
|
|
|
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
|
|
|
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter)
|
rs2149669144
|
|
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs)
|
rs1554020579
|
|
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
|
|
|
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)
|
rs866740147
|
|
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.3449G>A (p.Ser1150Asn)
|
|
|
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu)
|
rs1746665222
|
|
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
|
|
|
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
|
rs1580436698
|
|
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
|
|
|
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.3480TCC[2] (p.Pro1163del)
|
|
|
NM_133433.4(NIPBL):c.3482del (p.Pro1161fs)
|
|
|
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
|
|
|
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
|
|
|
NM_133433.4(NIPBL):c.3502+20G>A
|
|
|
NM_133433.4(NIPBL):c.3503-12T>C
|
|
|
NM_133433.4(NIPBL):c.3503-9T>G
|
rs587783924
|
|
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile)
|
rs1746709380
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly)
|
rs1275880743
|
|
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
|
|
|
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)
|
rs1746711848
|
|
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
|
|
|
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)
|
rs892589257
|
|
NM_133433.4(NIPBL):c.3574+12_3574+16del
|
|
|
NM_133433.4(NIPBL):c.3575-19A>G
|
|
|
NM_133433.4(NIPBL):c.3575-2A>G
|
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
NM_133433.4(NIPBL):c.3575-3_3575-2insG
|
|
|
NM_133433.4(NIPBL):c.3575-9C>T
|
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
NM_133433.4(NIPBL):c.358+3G>C
|
rs1580330420
|
|
NM_133433.4(NIPBL):c.358+5G>C
|
rs587783928
|
|
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del)
|
rs121918266
|
|
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
|
|
|
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
|
|
|
NM_133433.4(NIPBL):c.3664+11C>T
|
|
|
NM_133433.4(NIPBL):c.3664+19A>G
|
|
|
NM_133433.4(NIPBL):c.3664+1G>A
|
|
|
NM_133433.4(NIPBL):c.3664+8C>T
|
|
|
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
|
|
|
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.3768+15T>C
|
|
|
NM_133433.4(NIPBL):c.3769-8T>A
|
|
|
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe)
|
|
|
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro)
|
|
|
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn)
|
rs2149673199
|
|
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)
|
|
|
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.3834G>A (p.Lys1278=)
|
|
|
NM_133433.4(NIPBL):c.3855+1G>A
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.3856-10T>G
|
rs2149676690
|
|
NM_133433.4(NIPBL):c.3856-12A>C
|
rs199847583
|
|
NM_133433.4(NIPBL):c.3856-18A>G
|
|
|
NM_133433.4(NIPBL):c.3856-23_3856-13del
|
|
|
NM_133433.4(NIPBL):c.3856-7_3856-5del
|
rs797045757
|
|
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
|
|
|
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs)
|
rs587783934
|
|
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del)
|
rs773996562
|
|
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys)
|
rs1741620942
|
|
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
|
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
|
rs1580451470
|
|
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu)
|
rs1170839204
|
|
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr)
|
rs2149676816
|
|
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr)
|
rs2149676839
|
|
NM_133433.4(NIPBL):c.3937A>C (p.Thr1313Pro)
|
|
|
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
|
|
|
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys)
|
rs886042218
|
|
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser)
|
rs1580451626
|
|
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val)
|
rs1747443386
|
|
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
|
|
|
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys)
|
rs1747444771
|
|
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.403A>G (p.Ser135Gly)
|
|
|
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn)
|
rs1741623090
|
|
NM_133433.4(NIPBL):c.4087+15_4087+20del
|
|
|
NM_133433.4(NIPBL):c.4087+18C>G
|
|
|
NM_133433.4(NIPBL):c.4087+9del
|
|
|
NM_133433.4(NIPBL):c.4088-2A>T
|
rs587783939
|
|
NM_133433.4(NIPBL):c.4088-6T>C
|
|
|
NM_133433.4(NIPBL):c.4088-8del
|
|
|
NM_133433.4(NIPBL):c.4088-9T>C
|
|
|
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs)
|
rs587783940
|
|
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
|
|
|
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr)
|
rs2149677952
|
|
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
|
rs587783941
|
|
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
|
|
|
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
|
|
|
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer)
|
rs1747566758
|
|
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala)
|
|
|
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly)
|
|
|
NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)
|
|
|
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs)
|
|
|
NM_133433.4(NIPBL):c.4239+7T>C
|
|
|
NM_133433.4(NIPBL):c.4240-1G>C
|
rs587783942
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
|
|
|
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.4290A>G (p.Leu1430=)
|
|
|
NM_133433.4(NIPBL):c.4320+1G>A
|
rs587783945
|
|
NM_133433.4(NIPBL):c.4320+2dup
|
rs797045758
|
|
NM_133433.4(NIPBL):c.4320+5G>A
|
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
NM_133433.4(NIPBL):c.4321-6A>G
|
|
|
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu)
|
rs727503769
|
|
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)
|
|
|
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
|
|
|
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
|
|
|
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter)
|
rs767317539
|
|
NM_133433.4(NIPBL):c.4421+15_4421+16del
|
|
|
NM_133433.4(NIPBL):c.4421+18_4421+19del
|
|
|
NM_133433.4(NIPBL):c.4421+20G>T
|
|
|
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr)
|
rs587783947
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser)
|
rs80358358
|
|
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg)
|
rs1554022448
|
|
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs)
|
rs2149607105
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
|
|
|
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
|
|
|
NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile)
|
|
|
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.4508A>G (p.His1503Arg)
|
|
|
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter)
|
rs80358369
|
|
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
|
|
|
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
|
|
|
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
|
|
|
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.4539AGA[2] (p.Glu1515del)
|
|
|
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
|
|
|
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.4560+19G>A
|
|
|
NM_133433.4(NIPBL):c.4560+19G>T
|
|
|
NM_133433.4(NIPBL):c.4560+1G>C
|
rs2149681631
|
|
NM_133433.4(NIPBL):c.4560+4A>G
|
|
|
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
|
|
|
NM_133433.4(NIPBL):c.456del (p.Ser153fs)
|
rs587783951
|
|
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
|
|
|
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile)
|
rs1351097452
|
|
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu)
|
|
|
NM_133433.4(NIPBL):c.458+17del
|
|
|
NM_133433.4(NIPBL):c.458+19G>A
|
|
|
NM_133433.4(NIPBL):c.458+1_458+2dup
|
rs797045763
|
|
NM_133433.4(NIPBL):c.458+9T>C
|
|
|
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs)
|
rs797045764
|
|
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
|
|
|
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.45G>C (p.Gly15=)
|
|
|
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
|
|
|
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)
|
rs121918269
|
|
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
|
|
|
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
|
|
|
NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)
|
|
|
NM_133433.4(NIPBL):c.462G>A (p.Arg154=)
|
rs769203117
|
|
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs)
|
rs587783953
|
|
NM_133433.4(NIPBL):c.4643+10A>G
|
|
|
NM_133433.4(NIPBL):c.4643+1G>A
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4643+1G>C
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4644-16A>G
|
|
|
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
|
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser)
|
rs1447713911
|
|
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.4709T>G (p.Leu1570Arg)
|
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
|
|
|
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
|
|
|
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup)
|
rs1748964402
|
|
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
|
|
|
NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT
|
|
|
NM_133433.4(NIPBL):c.4777-16C>A
|
|
|
NM_133433.4(NIPBL):c.4777-6A>G
|
|
|
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.4829T>C (p.Leu1610Pro)
|
rs1561164598
|
|
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
|
|
|
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp)
|
rs1749083607
|
|
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
|
|
|
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
|
|
|
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu)
|
rs772077115
|
|
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs)
|
rs797045766
|
|
NM_133433.4(NIPBL):c.4920+5T>G
|
|
|
NM_133433.4(NIPBL):c.4921-12T>C
|
|
|
NM_133433.4(NIPBL):c.4921-4A>G
|
|
|
NM_133433.4(NIPBL):c.4940A>G (p.Glu1647Gly)
|
|
|
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
|
|
|
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs)
|
rs797045767
|
|
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
|
|
|
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer)
|
rs797045768
|
|
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
|
|
|
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_133433.4(NIPBL):c.5010+18T>C
|
|
|
NM_133433.4(NIPBL):c.5011-16T>G
|
|
|
NM_133433.4(NIPBL):c.5011-19C>G
|
|
|
NM_133433.4(NIPBL):c.5011-1G>C
|
rs1561169166
|
|
NM_133433.4(NIPBL):c.5011-8C>T
|
|
|
NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys)
|
|
|
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
|
|
|
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs)
|
rs587783960
|
|
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
|
|
|
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
|
rs797045769
|
|
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
|
|
|
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs)
|
rs797045770
|
|
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
|
|
|
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
|
|
|
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
|
|
|
NM_133433.4(NIPBL):c.5115T>C (p.His1705=)
|
rs2149696602
|
|
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
|
|
|
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
|
|
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)
|
rs886060558
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)
|
|
|
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter)
|
rs730880331
|
|
NM_133433.4(NIPBL):c.5225+2T>G
|
|
|
NM_133433.4(NIPBL):c.5226-11T>C
|
|
|
NM_133433.4(NIPBL):c.5226-3C>T
|
|
|
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
|
|
|
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)
|
|
|
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.5295G>C (p.Pro1765=)
|
rs758853244
|
|
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)
|
|
|
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)
|
|
|
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu)
|
rs587783966
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
NM_133433.4(NIPBL):c.5328+20C>T
|
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
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.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.5374G>C (p.Ala1792Pro)
|
rs1554025675
|
|
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)
|
rs483353060
|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
|
rs587783973
|
|
NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)
|
|
|
NM_133433.4(NIPBL):c.5427+16G>A
|
|
|
NM_133433.4(NIPBL):c.5427+20C>T
|
|
|
NM_133433.4(NIPBL):c.5427+24_5427+27del
|
|
|
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
|
|
|
NM_133433.4(NIPBL):c.5428-20T>G
|
|
|
NM_133433.4(NIPBL):c.5428-2A>G
|
rs587783974
|
|
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
|
|
|
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.5458T>C (p.Leu1820=)
|
|
|
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
|
|
|
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.5466T>G (p.Asp1822Glu)
|
|
|
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp)
|
rs750864821
|
|
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
|
|
|
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.551dup (p.Gly185fs)
|
|
|
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
|
|
|
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly)
|
rs80358373
|
|
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile)
|
rs1554025796
|
|
NM_133433.4(NIPBL):c.5574+11C>A
|
|
|
NM_133433.4(NIPBL):c.5574+5G>T
|
|
|
NM_133433.4(NIPBL):c.5574+7T>G
|
|
|
NM_133433.4(NIPBL):c.5575-1G>A
|
rs1750049152
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val)
|
rs1750049593
|
|
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.5709+4G>C
|
|
|
NM_133433.4(NIPBL):c.5710-13C>G
|
|
|
NM_133433.4(NIPBL):c.5710-13C>T
|
rs562131143
|
|
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
|
|
|
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs)
|
rs2149704475
|
|
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.5741G>C (p.Trp1914Ser)
|
rs2149704501
|
|
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
|
|
|
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del)
|
rs1750256312
|
|
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)
|
|
|
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
|
|
|
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
|
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.5808+20G>C
|
|
|
NM_133433.4(NIPBL):c.5808+2T>C
|
rs794727556
|
|
NM_133433.4(NIPBL):c.5808+5G>A
|
rs2149704635
|
|
NM_133433.4(NIPBL):c.5808+6_5808+8del
|
|
|
NM_133433.4(NIPBL):c.5809-18T>A
|
|
|
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
|
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.5862+3487C>T
|
rs2149710327
|
|
NM_133433.4(NIPBL):c.5863-19_5863-2del
|
rs753611931
|
|
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
|
|
|
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.5936T>G (p.Val1979Gly)
|
rs2149718188
|
|
NM_133433.4(NIPBL):c.5972-14G>C
|
|
|
NM_133433.4(NIPBL):c.5972-16_5972-15del
|
|
|
NM_133433.4(NIPBL):c.5972-1G>C
|
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.5982del (p.Asn1994fs)
|
rs2149721379
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=)
|
rs2149721385
|
|
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
|
|
|
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
|
|
|
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
|
|
|
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs)
|
rs2149721417
|
|
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe)
|
rs1554030218
|
|
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg)
|
rs587783989
|
|
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn)
|
rs1554030233
|
|
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
|
|
|
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.6072A>G (p.Ala2024=)
|
rs745516748
|
|
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.6098C>G (p.Thr2033Ser)
|
|
|
NM_133433.4(NIPBL):c.610+1G>A
|
rs587783993
|
|
NM_133433.4(NIPBL):c.6108+13C>T
|
|
|
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.610G>A (p.Ala204Thr)
|
rs2149607994
|
|
NM_133433.4(NIPBL):c.611-14_611-12del
|
|
|
NM_133433.4(NIPBL):c.611-3C>T
|
|
|
NM_133433.4(NIPBL):c.611-8A>G
|
|
|
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
|
|
|
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
|
|
|
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro)
|
rs587783997
|
|
NM_133433.4(NIPBL):c.6166C>A (p.Pro2056Thr)
|
rs2149730828
|
|
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
|
|
|
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro)
|
rs587783998
|
|
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=)
|
rs1579556694
|
|
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
|
|
|
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
|
rs587783999
|
|
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu)
|
rs587783999
|
|
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
|
|
|
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
|
|
|
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
|
|
|
NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile)
|
|
|
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del)
|
rs1554031820
|
|
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val)
|
rs587784000
|
|
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=)
|
rs1131691272
|
|
NM_133433.4(NIPBL):c.6249+14T>G
|
rs2149730972
|
|
NM_133433.4(NIPBL):c.6249+17C>T
|
|
|
NM_133433.4(NIPBL):c.6249+18C>G
|
|
|
NM_133433.4(NIPBL):c.6249+1G>A
|
rs2149730953
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
NM_133433.4(NIPBL):c.6249+5G>A
|
|
|
NM_133433.4(NIPBL):c.6250-11A>G
|
|
|
NM_133433.4(NIPBL):c.6250-13C>T
|
|
|
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu)
|
rs587784002
|
|
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
|
rs1554031864
|
|
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly)
|
rs587784003
|
|
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg)
|
rs1579557913
|
|
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
|
|
|
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu)
|
rs587784004
|
|
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
|
|
|
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
|
|
|
NM_133433.4(NIPBL):c.6343+4A>T
|
rs1344872907
|
|
NM_133433.4(NIPBL):c.6343+5G>A
|
rs80358383
|
|
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser)
|
rs587784007
|
|
NM_133433.4(NIPBL):c.6344-1G>A
|
|
|
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter)
|
rs2149732594
|
|
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del)
|
rs587784008
|
|
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His)
|
rs369295272
|
|
NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)
|
|
|
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)
|
|
|
NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)
|
|
|
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.64+4del
|
rs1740653321
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
NM_133433.4(NIPBL):c.64+6T>A
|
rs1554010766
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
|
rs1554032085
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
|
|
|
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)
|
|
|
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
|
rs1579561078
|
|
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro)
|
rs781297222
|
|
NM_133433.4(NIPBL):c.65-20T>G
|
|
|
NM_133433.4(NIPBL):c.65-3T>G
|
rs727503768
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
|
|
|
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro)
|
rs1561207924
|
|
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
|
|
|
NM_133433.4(NIPBL):c.654_657del (p.Ile218fs)
|
rs2149619973
|
|
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala)
|
rs587784014
|
|
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
|
|
|
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val)
|
rs1368217611
|
|
NM_133433.4(NIPBL):c.6589+13T>C
|
|
|
NM_133433.4(NIPBL):c.6589+5G>A
|
rs1554032266
|
|
NM_133433.4(NIPBL):c.6590-12C>T
|
|
|
NM_133433.4(NIPBL):c.6590-2A>C
|
rs587784016
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
|
rs587784017
|
|
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
|
|
|
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr)
|
rs1753199066
|
|
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del)
|
rs587784019
|
|
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.667G>C (p.Val223Leu)
|
|
|
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
|
rs1579570362
|
|
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
|
|
|
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
|
|
|
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del)
|
rs2149737108
|
|
NM_133433.4(NIPBL):c.6763+13A>G
|
|
|
NM_133433.4(NIPBL):c.6763+18T>C
|
|
|
NM_133433.4(NIPBL):c.6763+1G>A
|
rs1753212131
|
|
NM_133433.4(NIPBL):c.6763+20T>C
|
|
|
NM_133433.4(NIPBL):c.6763+5G>A
|
rs2149737162
|
|
NM_133433.4(NIPBL):c.6764-10G>A
|
|
|
NM_133433.4(NIPBL):c.6764-6T>C
|
|
|
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu)
|
rs947067048
|
|
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
|
|
|
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)
|
rs192822119
|
|
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
|
|
|
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter)
|
rs1554032954
|
|
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg)
|
rs797045779
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
|
|
|
NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=)
|
|
|
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
|
|
|
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
|
|
|
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
|
|
|
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
|
|
|
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
|
|
|
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
|
|
|
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly)
|
rs1401102641
|
|
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
|
|
|
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.6911T>G (p.Val2304Gly)
|
rs2149737924
|
|
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
|
|
|
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
|
|
|
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+13T>G
|
|
|
NM_133433.4(NIPBL):c.6954+18C>T
|
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
NM_133433.4(NIPBL):c.6954+7A>G
|
|
|
NM_133433.4(NIPBL):c.6955-20A>T
|
|
|
NM_133433.4(NIPBL):c.6955-2A>C
|
rs2149741447
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133433.4(NIPBL):c.6955-9dup
|
|
|
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)
|
rs1064796744
|
|
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
|
|
|
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
|
|
|
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs)
|
rs1561214997
|
|
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
|
|
|
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.7024C>T (p.Leu2342Phe)
|
rs587784031
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
NM_133433.4(NIPBL):c.7062+7_7062+8del
|
|
|
NM_133433.4(NIPBL):c.7063-11A>C
|
|
|
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)
|
|
|
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp)
|
rs2149742261
|
|
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
|
|
|
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.7118C>T (p.Thr2373Ile)
|
|
|
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
|
|
|
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
|
|
|
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser)
|
rs587784035
|
|
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
|
|
|
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
|
|
|
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter)
|
rs1057516034
|
|
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
|
|
|
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
|
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
|
|
|
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)
|
rs886042231
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro)
|
rs765741574
|
|
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=)
|
rs1579583689
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
|
|
|
NM_133433.4(NIPBL):c.7263+1G>A
|
|
|
NM_133433.4(NIPBL):c.7263+3A>G
|
rs1554033589
|
|
NM_133433.4(NIPBL):c.7264-19T>C
|
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
NM_133433.4(NIPBL):c.7264-7T>C
|
|
|
NM_133433.4(NIPBL):c.7288T>C (p.Tyr2430His)
|
rs1754192867
|
|
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys)
|
rs121918265
|
|
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.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.7336_7338del (p.Pro2446del)
|
rs587784040
|
|
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del)
|
rs587784041
|
|
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
|
|
|
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro)
|
rs2149750216
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.7410+4A>G
|
rs1561222738
|
|
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
|
|
|
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
|
|
|
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)
|
rs587784043
|
|
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
|
|
|
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
|
|
|
NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
|
|
|
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)
|
rs1554034812
|
|
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
|
|
|
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys)
|
rs1561224805
|
|
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
|
|
|
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
|
|
|
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
|
|
|
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
|
rs759115050
|
|
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
|
|
|
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
|
|
|
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)
|
rs1754384795
|
|
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly)
|
rs1754386332
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
|
|
|
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly)
|
rs756187678
|
|
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
|
|
|
NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
|
|
|
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
|
|
|
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
|
|
|
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=)
|
rs1754396332
|
|
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp)
|
rs587784045
|
|
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
|
|
|
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro)
|
rs727503772
|
|
NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp)
|
rs2149752967
|
|
NM_133433.4(NIPBL):c.7685+19T>G
|
|
|
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)
|
rs1216631170
|
|
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.771+20T>G
|
|
|
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
|
|
|
NM_133433.4(NIPBL):c.772-12C>T
|
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
|
rs80358351
|
|
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
|
|
|
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
|
|
|
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs)
|
rs1754594011
|
|
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
|
|
|
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
|
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
|
|
|
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter)
|
rs80358371
|
|
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr)
|
rs2149755591
|
|
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs)
|
rs797045783
|
|
NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter)
|
rs2149755613
|
|
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg)
|
rs1554035311
|
|
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs)
|
rs2149755630
|
|
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu)
|
rs886060560
|
|
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
|
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
|
|
|
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.7861-9T>G
|
|
|
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
|
|
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
|
|
|
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
|
|
|
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs)
|
rs727503771
|
|
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
|
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
|
|
|
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val)
|
rs1248025959
|
|
NM_133433.4(NIPBL):c.7936_7961del (p.Arg2646fs)
|
|
|
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)
|
rs2149621638
|
|
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs)
|
rs2149759954
|
|
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
|
|
|
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs)
|
rs1755082448
|
|
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
|
|
|
NM_133433.4(NIPBL):c.8049+1G>A
|
|
|
NM_133433.4(NIPBL):c.8049+6G>A
|
|
|
NM_133433.4(NIPBL):c.8049+7C>T
|
|
|
NM_133433.4(NIPBL):c.8050-15del
|
|
|
NM_133433.4(NIPBL):c.8050-8T>C
|
|
|
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
|
|
|
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
|
|
|
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
|
|
|
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
|
|
|
NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)
|
|
|
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
|
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro)
|
rs587784053
|
|
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser)
|
rs886060561
|
|
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
|
|
|
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
|
|
|
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu)
|
rs868294395
|
|
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.8283T>C (p.Pro2761=)
|
|
|
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
|
|
|
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
|
|
|
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu)
|
rs797045788
|
|
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
|
|
|
NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu)
|
rs2149761150
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
|
|
|
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
|
|
|
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
|
|
|
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer)
|
rs1755224830
|
|
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)
|
rs587784057
|
|
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs)
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rs797045789
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NM_133433.4(NIPBL):c.834A>G (p.Val278=)
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rs377714862
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NM_133433.4(NIPBL):c.834A>T (p.Val278=)
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NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
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NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
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NM_133433.4(NIPBL):c.8370del (p.Thr2791fs)
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rs1755229121
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NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
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rs398124474
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NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
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NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro)
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rs2149761303
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NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
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NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs)
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rs2149761324
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NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=)
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rs997526101
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NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
|
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NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
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NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
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NM_133433.4(NIPBL):c.868+16A>G
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NM_133433.4(NIPBL):c.868+17A>G
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NM_133433.4(NIPBL):c.868+4C>G
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NM_133433.4(NIPBL):c.868+4C>T
|
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NM_133433.4(NIPBL):c.868+8T>A
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NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser)
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rs1554014382
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NM_133433.4(NIPBL):c.869-15G>A
|
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NM_133433.4(NIPBL):c.869-1G>A
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rs587784059
|
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NM_133433.4(NIPBL):c.869-1G>C
|
|
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NM_133433.4(NIPBL):c.869-640G>C
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rs2149626924
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NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
NM_133433.4(NIPBL):c.873A>C (p.Ser291=)
|
rs1743370604
|
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NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
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NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
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NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
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NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)
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rs587784062
|
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NM_133433.4(NIPBL):c.892del (p.Gln298fs)
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rs587784063
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NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
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|
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NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
|
rs587784064
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NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
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NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
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NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter)
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rs727503770
|
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NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
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NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
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NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
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NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
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NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
|
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NM_133433.4(NIPBL):c.99T>C (p.Pro33=)
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NM_133433.4:c.1480_2479del
|
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