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.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_133433.4(NIPBL):c.3502+17A>C
|
rs144725401
|
0.00230
|
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.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)
|
rs140907869
|
0.00077
|
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.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
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.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
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.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
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.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=)
|
rs757245118
|
0.00005
|
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)
|
rs188565385
|
0.00004
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_133433.4(NIPBL):c.3768+34T>G
|
rs149115930
|
0.00003
|
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018
|
0.00003
|
NM_133433.4(NIPBL):c.6764-4G>C
|
rs757590127
|
0.00003
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu)
|
rs958483468
|
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.5863-16A>G
|
rs578098911
|
0.00002
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)
|
rs768113851
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys)
|
rs80358352
|
0.00001
|
NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly)
|
rs867081982
|
0.00001
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
NM_133433.4(NIPBL):c.3347A>G (p.Glu1116Gly)
|
rs552620284
|
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.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
NM_133433.4(NIPBL):c.42G>A (p.Ala14=)
|
rs727504045
|
0.00001
|
NM_133433.4(NIPBL):c.4777-12T>C
|
rs80358381
|
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
|
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser)
|
rs794727675
|
0.00001
|
GRCh37/hg19 5p13.2(chr5:36902395-36963396)
|
|
|
NM_133433.4(NIPBL):c.*84del
|
rs587783876
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
NM_133433.4(NIPBL):c.-80+5del
|
rs532015680
|
|
NM_133433.4(NIPBL):c.1302G>C (p.Val434=)
|
rs769279620
|
|
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe)
|
rs1554015273
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)
|
rs587783900
|
|
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)
|
rs80358365
|
|
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
|
|
|
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn)
|
rs149134659
|
|
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val)
|
rs587783929
|
|
NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=)
|
rs2149672538
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile)
|
rs587783949
|
|
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.4776+4A>G
|
rs797045765
|
|
NM_133433.4(NIPBL):c.5225+13G>A
|
rs587783963
|
|
NM_133433.4(NIPBL):c.5226-14A>G
|
rs587783964
|
|
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=)
|
rs587783965
|
|
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
|
|
|
NM_133433.4(NIPBL):c.5709+7T>G
|
rs587783981
|
|
NM_133433.4(NIPBL):c.5710-3T>C
|
|
|
NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)
|
|
|
NM_133433.4(NIPBL):c.5863-10_5863-3dup
|
rs1554029659
|
|
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[11]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5863-31TA[12]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5863-31TA[9]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=)
|
rs1486059319
|
|
NM_133433.4(NIPBL):c.6145A>G (p.Lys2049Glu)
|
rs587783996
|
|
NM_133433.4(NIPBL):c.6250-6T>C
|
rs587784001
|
|
NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr)
|
rs797045777
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
NM_133433.4(NIPBL):c.6589+8dup
|
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
|
|
|
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val)
|
rs2149742243
|
|
NM_133433.4(NIPBL):c.7263+4A>C
|
rs797045781
|
|
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
|
|
|
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
|
rs80358351
|
|
NM_133433.4(NIPBL):c.7860+9T>G
|
rs587784051
|
|
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
|
|
NM_133433.4(NIPBL):c.8225G>T (p.Gly2742Val)
|
rs587784054
|
|
NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr)
|
rs546188623
|
|
NM_133433.4(NIPBL):c.87A>G (p.Pro29=)
|
rs587784061
|
|
NM_133433.4(NIPBL):c.891A>C (p.Leu297=)
|
rs373684382
|
|