NM_133433.4(NIPBL):c.5575-168A>T
|
rs3100685
|
0.99637
|
NM_133433.4(NIPBL):c.4239+53T>C
|
rs159753
|
0.57773
|
NM_133433.4(NIPBL):c.7860+141A>G
|
rs188541
|
0.57297
|
NM_133433.4(NIPBL):c.6498+142A>G
|
rs301859
|
0.57272
|
NM_133433.4(NIPBL):c.5574+283G>A
|
rs300061
|
0.56706
|
NM_133433.4(NIPBL):c.4921-59G>A
|
rs300060
|
0.55914
|
NM_133433.4(NIPBL):c.4560+77A>G
|
rs35011787
|
0.13874
|
NM_133433.4(NIPBL):c.5329-220T>C
|
rs35701604
|
0.13534
|
NM_133433.4(NIPBL):c.3121+285T>C
|
rs294695
|
0.13531
|
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.3855+52A>G
|
rs62654860
|
0.11985
|
NM_133433.4(NIPBL):c.4560+121C>T
|
rs62654863
|
0.11377
|
NM_133433.4(NIPBL):c.5809-203C>A
|
rs12187383
|
0.11338
|
NM_133433.4(NIPBL):c.5575-193T>C
|
rs13181330
|
0.10455
|
NM_133433.4(NIPBL):c.4239+152C>G
|
rs41270323
|
0.08795
|
NM_133433.4(NIPBL):c.3665-126T>C
|
rs6876156
|
0.05319
|
NM_133433.4(NIPBL):c.4776+250A>G
|
rs391366
|
0.04733
|
NM_133433.4(NIPBL):c.358+265A>G
|
rs294691
|
0.04564
|
NM_133433.4(NIPBL):c.3305-304C>T
|
rs159750
|
0.04563
|
NM_133433.4(NIPBL):c.3122-148G>A
|
rs159754
|
0.04505
|
NM_133433.4(NIPBL):c.7263+153A>T
|
rs300059
|
0.04458
|
NM_133433.4(NIPBL):c.4087+299T>A
|
rs78477452
|
0.03664
|
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.6498+64T>A
|
rs56745362
|
0.03524
|
NM_133433.4(NIPBL):c.5972-260A>T
|
rs73750920
|
0.03351
|
NM_133433.4(NIPBL):c.4561-16C>T
|
rs115403650
|
0.02404
|
NM_133433.4(NIPBL):c.611-238G>A
|
rs77660289
|
0.02286
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_133433.4(NIPBL):c.7263+198G>A
|
rs75847044
|
0.02107
|
NM_133433.4(NIPBL):c.4561-86C>T
|
rs116554506
|
0.02104
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_133433.4(NIPBL):c.7860+39G>A
|
rs113168205
|
0.02083
|
NM_133433.4(NIPBL):c.3304+121T>C
|
rs75303479
|
0.01948
|
NM_133433.4(NIPBL):c.5574+261T>A
|
rs80290939
|
0.01929
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_133433.4(NIPBL):c.5011-62T>C
|
rs16903455
|
0.01709
|
NM_133433.4(NIPBL):c.231-149C>T
|
rs111951890
|
0.01631
|
NM_133433.4(NIPBL):c.3665-98T>C
|
rs73093870
|
0.01563
|
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.5863-30A>G
|
rs199888273
|
0.00781
|
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.4422-23C>T
|
rs190647010
|
0.00325
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_133433.4(NIPBL):c.5575-26T>G
|
rs147563181
|
0.00232
|
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.4240-48C>T
|
rs140932715
|
0.00196
|
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.6764-35C>G
|
rs144405762
|
0.00144
|
NM_133433.4(NIPBL):c.1495+38C>A
|
rs192155566
|
0.00105
|
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.7686-47G>A
|
rs374602595
|
0.00092
|
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.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.5427+34C>T
|
rs182380681
|
0.00044
|
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.869-16C>T
|
rs3736396
|
0.00022
|
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.-307C>T
|
rs377354585
|
0.00013
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
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.3861C>T (p.Asn1287=)
|
rs531615496
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)
|
rs188565385
|
0.00004
|
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys)
|
rs149451089
|
0.00004
|
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3574+20A>C
|
rs530238141
|
0.00001
|
NM_133433.4(NIPBL):c.5010+9C>A
|
rs536151596
|
0.00001
|
NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=)
|
rs587783962
|
0.00001
|
GRCh37/hg19 5p13.2(chr5:36793233-36896707)x3
|
|
|
GRCh37/hg19 5p13.2(chr5:36816661-36896707)x3
|
|
|
GRCh37/hg19 5p13.2(chr5:36879422-36893877)x3
|
|
|
GRCh37/hg19 5p13.2(chr5:36879422-36896707)x3
|
|
|
GRCh37/hg19 5p13.2(chr5:36923463-37058656)x3
|
|
|
NM_133433.4(NIPBL):c.*84del
|
rs587783876
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
NM_133433.4(NIPBL):c.-415del
|
|
|
NM_133433.4(NIPBL):c.-79-1563_-79-1534del
|
rs1395841873
|
|
NM_133433.4(NIPBL):c.-79-1564GC[6]
|
rs1554010277
|
|
NM_133433.4(NIPBL):c.-79-1569_-79-1562del
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[14]
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[17]
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[26]
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
|
|
|
NM_133433.4(NIPBL):c.231-103del
|
rs141750225
|
|
NM_133433.4(NIPBL):c.231-104_231-103del
|
rs141750225
|
|
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)
|
rs587783900
|
|
NM_133433.4(NIPBL):c.3304+136dup
|
rs146311166
|
|
NM_133433.4(NIPBL):c.3305-18A>G
|
|
|
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val)
|
rs587783929
|
|
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
|
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=)
|
rs587783956
|
|
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=)
|
rs587783958
|
|
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
|
|
|
NM_133433.4(NIPBL):c.4921-12T>C
|
|
|
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
|
|
|
NM_133433.4(NIPBL):c.5225+13G>A
|
rs587783963
|
|
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=)
|
rs587783965
|
|
NM_133433.4(NIPBL):c.5328+315G>T
|
rs13183090
|
|
NM_133433.4(NIPBL):c.5574+298T>C
|
rs16903456
|
|
NM_133433.4(NIPBL):c.5709+7T>G
|
rs587783981
|
|
NM_133433.4(NIPBL):c.5710-13C>T
|
rs562131143
|
|
NM_133433.4(NIPBL):c.5710-22T>C
|
|
|
NM_133433.4(NIPBL):c.5808+20G>C
|
|
|
NM_133433.4(NIPBL):c.5862+75dup
|
rs75728277
|
|
NM_133433.4(NIPBL):c.5863-12_5863-11insAT
|
rs797045774
|
|
NM_133433.4(NIPBL):c.5863-12_5863-11insATAT
|
rs797045774
|
|
NM_133433.4(NIPBL):c.5863-31TA[12]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5863-31TA[9]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5972-186_5972-185insATGT
|
rs2307857
|
|
NM_133433.4(NIPBL):c.65-20T>G
|
|
|
NM_133433.4(NIPBL):c.6590-12C>T
|
|
|
NM_133433.4(NIPBL):c.6763+20T>C
|
|
|
NM_133433.4(NIPBL):c.6764-164AC[13]
|
rs56972789
|
|
NM_133433.4(NIPBL):c.6764-164AC[14]
|
rs56972789
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133433.4(NIPBL):c.6955-9dup
|
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
NM_133433.4(NIPBL):c.7685+19T>G
|
|
|
NM_133433.4(NIPBL):c.771+244dup
|
rs11464185
|
|
NM_133433.4(NIPBL):c.7860+9T>G
|
rs587784051
|
|
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val)
|
rs1248025959
|
|
NM_133433.4(NIPBL):c.8050-15del
|
|
|