NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
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_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.*334G>A
|
rs181989563
|
0.00040
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
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.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)
|
rs560785308
|
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.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
NM_133433.4(NIPBL):c.-265A>G
|
rs879291582
|
0.00011
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser)
|
rs140344071
|
0.00010
|
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.5511A>G (p.Arg1837=)
|
rs146702130
|
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.6589+9A>T
|
rs370709104
|
0.00006
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
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.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.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.6674C>T (p.Ser2225Phe)
|
rs750309699
|
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.*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.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe)
|
rs540365485
|
0.00003
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
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.5863-10G>A
|
rs938697074
|
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.2515A>G (p.Arg839Gly)
|
rs780665254
|
0.00002
|
NM_133433.4(NIPBL):c.2945C>T (p.Pro982Leu)
|
rs886042816
|
0.00002
|
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr)
|
rs747918239
|
0.00002
|
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val)
|
rs1223302517
|
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.*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.1017T>C (p.Ser339=)
|
rs886043120
|
0.00001
|
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=)
|
rs767162047
|
0.00001
|
NM_133433.4(NIPBL):c.1144A>G (p.Asn382Asp)
|
rs778853918
|
0.00001
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
NM_133433.4(NIPBL):c.1221A>G (p.Pro407=)
|
rs886042232
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
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.1979A>G (p.Glu660Gly)
|
rs867081982
|
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.2171C>T (p.Thr724Ile)
|
rs886042385
|
0.00001
|
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu)
|
rs748268539
|
0.00001
|
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln)
|
rs142574933
|
0.00001
|
NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly)
|
rs1284101914
|
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.2741C>G (p.Thr914Ser)
|
rs1329800608
|
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.3139G>T (p.Val1047Leu)
|
rs1057522878
|
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.3659C>T (p.Ala1220Val)
|
rs1360432003
|
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.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.4901T>C (p.Ile1634Thr)
|
rs1343267889
|
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.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala)
|
rs376084993
|
0.00001
|
NM_133433.4(NIPBL):c.5786A>G (p.Lys1929Arg)
|
rs374294679
|
0.00001
|
NM_133433.4(NIPBL):c.5863-18A>G
|
rs1393586617
|
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.6557A>G (p.Glu2186Gly)
|
rs398124469
|
0.00001
|
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=)
|
rs587784028
|
0.00001
|
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg)
|
rs528591545
|
0.00001
|
NM_133433.4(NIPBL):c.7111A>G (p.Ile2371Val)
|
rs143355392
|
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
|
NM_133433.4(NIPBL):c.7893T>C (p.Asp2631=)
|
rs886042552
|
0.00001
|
GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4
|
|
|
NC_000005.9:g.(?_37002744)_(37046321_?)dup
|
|
|
NM_133433.3(NIPBL):c.3856-?_4239+?del
|
|
|
NM_133433.4(NIPBL):c.*142G>C
|
rs886060562
|
|
NM_133433.4(NIPBL):c.*265_*266del
|
rs886060563
|
|
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.-153dup
|
rs567891305
|
|
NM_133433.4(NIPBL):c.-315del
|
|
|
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.-80+11G>C
|
rs1257470313
|
|
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
|
|
|
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
|
|
|
NM_133433.4(NIPBL):c.1016G>A (p.Ser339Asn)
|
|
|
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
|
|
|
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
|
|
|
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg)
|
rs1743395526
|
|
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
|
|
|
NM_133433.4(NIPBL):c.1148G>A (p.Ser383Asn)
|
|
|
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys)
|
rs1743404672
|
|
NM_133433.4(NIPBL):c.1168A>G (p.Ile390Val)
|
|
|
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
|
|
|
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.1262C>T (p.Ser421Leu)
|
|
|
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
|
|
|
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu)
|
rs1554015229
|
|
NM_133433.4(NIPBL):c.1279G>C (p.Ala427Pro)
|
|
|
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val)
|
rs1743429461
|
|
NM_133433.4(NIPBL):c.1332T>C (p.Ala444=)
|
|
|
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
|
|
|
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
|
|
|
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe)
|
rs1554015273
|
|
NM_133433.4(NIPBL):c.1361A>C (p.Gln454Pro)
|
rs752461981
|
|
NM_133433.4(NIPBL):c.1378T>C (p.Ser460Pro)
|
|
|
NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val)
|
|
|
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
|
|
|
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
|
rs1017711925
|
|
NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val)
|
rs886044139
|
|
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)
|
|
|
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
|
|
|
NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala)
|
|
|
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
|
|
|
NM_133433.4(NIPBL):c.1582A>T (p.Thr528Ser)
|
rs794727009
|
|
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
|
|
|
NM_133433.4(NIPBL):c.1604C>T (p.Ser535Leu)
|
|
|
NM_133433.4(NIPBL):c.1610C>A (p.Pro537Gln)
|
|
|
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.1646G>T (p.Gly549Val)
|
|
|
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
|
|
|
NM_133433.4(NIPBL):c.1677G>A (p.Gln559=)
|
rs1580394271
|
|
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
|
|
|
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
|
|
|
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val)
|
|
|
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
|
|
|
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.1753_1755del (p.Ile585del)
|
|
|
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
|
|
|
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
|
|
|
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
|
|
|
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.184G>C (p.Val62Leu)
|
|
|
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
|
|
|
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile)
|
rs1744597297
|
|
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
|
|
|
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
|
|
|
NM_133433.4(NIPBL):c.1948G>A (p.Glu650Lys)
|
|
|
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.200A>G (p.His67Arg)
|
rs1388552505
|
|
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr)
|
rs762097133
|
|
NM_133433.4(NIPBL):c.2042C>G (p.Thr681Arg)
|
|
|
NM_133433.4(NIPBL):c.2054A>G (p.Asp685Gly)
|
rs1728431684
|
|
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
|
|
|
NM_133433.4(NIPBL):c.2076A>C (p.Arg692Ser)
|
|
|
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
|
|
|
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
|
|
|
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser)
|
rs2149599601
|
|
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
|
|
|
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
|
|
|
NM_133433.4(NIPBL):c.2140C>T (p.Pro714Ser)
|
rs2149644628
|
|
NM_133433.4(NIPBL):c.215T>C (p.Val72Ala)
|
|
|
NM_133433.4(NIPBL):c.2194A>G (p.Arg732Gly)
|
|
|
NM_133433.4(NIPBL):c.2214A>T (p.Gln738His)
|
|
|
NM_133433.4(NIPBL):c.2218_2250del (p.Gly740_Lys750del)
|
rs761493578
|
|
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
|
|
|
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
|
|
|
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro)
|
rs1178033980
|
|
NM_133433.4(NIPBL):c.2264C>A (p.Pro755His)
|
|
|
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)
|
|
|
NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)
|
|
|
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
|
|
|
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
|
|
|
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
|
|
|
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.2390G>A (p.Arg797Gln)
|
|
|
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
|
|
|
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
|
|
|
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg)
|
rs1744681690
|
|
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
|
|
|
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
|
|
|
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp)
|
|
|
NM_133433.4(NIPBL):c.2439A>C (p.Ser813=)
|
rs886043800
|
|
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
|
|
|
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu)
|
rs587783904
|
|
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
|
|
|
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
|
|
|
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
|
|
|
NM_133433.4(NIPBL):c.2510A>C (p.Gln837Pro)
|
|
|
NM_133433.4(NIPBL):c.2525G>T (p.Arg842Ile)
|
|
|
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.2597T>C (p.Leu866Pro)
|
|
|
NM_133433.4(NIPBL):c.2599G>A (p.Glu867Lys)
|
|
|
NM_133433.4(NIPBL):c.2648C>T (p.Ser883Phe)
|
|
|
NM_133433.4(NIPBL):c.2650G>C (p.Gly884Arg)
|
|
|
NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys)
|
|
|
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
|
|
|
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His)
|
rs775238155
|
|
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
|
|
|
NM_133433.4(NIPBL):c.2711G>C (p.Arg904Thr)
|
|
|
NM_133433.4(NIPBL):c.2743A>G (p.Ser915Gly)
|
rs794727010
|
|
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
|
|
|
NM_133433.4(NIPBL):c.2771A>G (p.Asn924Ser)
|
|
|
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
|
|
|
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
|
|
|
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
|
|
|
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del)
|
rs1369177636
|
|
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr)
|
rs1744758389
|
|
NM_133433.4(NIPBL):c.2933T>C (p.Met978Thr)
|
rs779638068
|
|
NM_133433.4(NIPBL):c.2956G>A (p.Val986Ile)
|
|
|
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
|
|
|
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
|
|
|
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
|
|
|
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
|
|
|
NM_133433.4(NIPBL):c.3055G>C (p.Asp1019His)
|
|
|
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.3101A>G (p.Lys1034Arg)
|
|
|
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala)
|
rs587783915
|
|
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
|
|
|
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
|
|
|
NM_133433.4(NIPBL):c.3211A>G (p.Met1071Val)
|
rs2149662599
|
|
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile)
|
rs2149662601
|
|
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
|
|
|
NM_133433.4(NIPBL):c.3286A>G (p.Ser1096Gly)
|
|
|
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
|
|
|
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly)
|
rs2149668934
|
|
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.3383A>G (p.His1128Arg)
|
rs2149669068
|
|
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)
|
|
|
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
|
|
|
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
|
|
|
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
|
|
|
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr)
|
rs914252297
|
|
NM_133433.4(NIPBL):c.3475T>G (p.Tyr1159Asp)
|
|
|
NM_133433.4(NIPBL):c.3479C>T (p.Ser1160Phe)
|
|
|
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)
|
|
|
NM_133433.4(NIPBL):c.3503-9T>G
|
rs587783924
|
|
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile)
|
rs1746709380
|
|
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly)
|
rs1275880743
|
|
NM_133433.4(NIPBL):c.3530A>G (p.Lys1177Arg)
|
|
|
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
|
|
|
NM_133433.4(NIPBL):c.3542G>A (p.Arg1181Lys)
|
|
|
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)
|
rs892589257
|
|
NM_133433.4(NIPBL):c.3574+12_3574+16del
|
|
|
NM_133433.4(NIPBL):c.3575-3_3575-2insG
|
|
|
NM_133433.4(NIPBL):c.358+3G>C
|
rs1580330420
|
|
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn)
|
rs149134659
|
|
NM_133433.4(NIPBL):c.359-1085A>G
|
|
|
NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala)
|
rs2149607016
|
|
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
|
|
|
NM_133433.4(NIPBL):c.3666TGA[3] (p.Asp1225del)
|
rs772674746
|
|
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
|
|
|
NM_133433.4(NIPBL):c.3742A>G (p.Ile1248Val)
|
|
|
NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=)
|
rs2149672538
|
|
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.3780C>A (p.Asp1260Glu)
|
|
|
NM_133433.4(NIPBL):c.3855+4A>C
|
rs1554021100
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.3856-12A>C
|
rs199847583
|
|
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
|
|
|
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.3877G>A (p.Glu1293Lys)
|
|
|
NM_133433.4(NIPBL):c.3914C>G (p.Thr1305Arg)
|
rs1419407546
|
|
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.3937A>G (p.Thr1313Ala)
|
|
|
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys)
|
rs886042218
|
|
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val)
|
rs1747443386
|
|
NM_133433.4(NIPBL):c.3966C>G (p.Asn1322Lys)
|
|
|
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys)
|
rs1747444771
|
|
NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=)
|
rs886043018
|
|
NM_133433.4(NIPBL):c.398T>C (p.Met133Thr)
|
|
|
NM_133433.4(NIPBL):c.4021A>G (p.Lys1341Glu)
|
|
|
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
|
|
|
NM_133433.4(NIPBL):c.4070G>A (p.Arg1357Lys)
|
|
|
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn)
|
rs1741623090
|
|
NM_133433.4(NIPBL):c.409C>T (p.Pro137Ser)
|
|
|
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
|
|
|
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr)
|
rs2149677952
|
|
NM_133433.4(NIPBL):c.4170T>A (p.Val1390=)
|
rs1279145652
|
|
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
|
|
|
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.4240G>C (p.Val1414Leu)
|
|
|
NM_133433.4(NIPBL):c.4240G>T (p.Val1414Phe)
|
|
|
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
|
|
|
NM_133433.4(NIPBL):c.4284T>C (p.Ser1428=)
|
rs2149678866
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
NM_133433.4(NIPBL):c.4321G>A (p.Val1441Ile)
|
|
|
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)
|
|
|
NM_133433.4(NIPBL):c.4333T>C (p.Tyr1445His)
|
|
|
NM_133433.4(NIPBL):c.4359G>C (p.Leu1453Phe)
|
|
|
NM_133433.4(NIPBL):c.4366A>G (p.Ile1456Val)
|
|
|
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.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile)
|
|
|
NM_133433.4(NIPBL):c.4472C>T (p.Thr1491Ile)
|
|
|
NM_133433.4(NIPBL):c.4493T>C (p.Ile1498Thr)
|
rs199570957
|
|
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)
|
|
|
NM_133433.4(NIPBL):c.450C>A (p.Ser150Arg)
|
|
|
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
|
|
|
NM_133433.4(NIPBL):c.4520C>T (p.Ser1507Leu)
|
rs794727348
|
|
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
|
|
|
NM_133433.4(NIPBL):c.4534A>G (p.Asn1512Asp)
|
|
|
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
|
|
|
NM_133433.4(NIPBL):c.4546G>A (p.Asp1516Asn)
|
|
|
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
|
|
|
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+4A>G
|
|
|
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
|
|
|
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
|
|
|
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
|
|
|
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser)
|
rs1447713911
|
|
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
|
|
|
NM_133433.4(NIPBL):c.4714A>G (p.Thr1572Ala)
|
rs943147398
|
|
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
|
|
|
NM_133433.4(NIPBL):c.4776+4A>G
|
rs797045765
|
|
NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile)
|
rs763783306
|
|
NM_133433.4(NIPBL):c.4826C>A (p.Ser1609Tyr)
|
|
|
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp)
|
rs1749083607
|
|
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
|
|
|
NM_133433.4(NIPBL):c.4852_4855delinsT (p.Ala1618_Arg1619delinsTrp)
|
|
|
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu)
|
rs772077115
|
|
NM_133433.4(NIPBL):c.4920+5T>G
|
|
|
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
|
|
|
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_133433.4(NIPBL):c.5009T>G (p.Val1670Gly)
|
rs2149695130
|
|
NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys)
|
|
|
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
|
|
|
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
|
|
|
NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile)
|
rs774109272
|
|
NM_133433.4(NIPBL):c.507G>T (p.Gln169His)
|
rs2149607854
|
|
NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)
|
|
|
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
|
|
|
NM_133433.4(NIPBL):c.5115T>C (p.His1705=)
|
rs2149696602
|
|
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
|
|
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
|
|
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)
|
rs886060558
|
|
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)
|
|
|
NM_133433.4(NIPBL):c.5192T>C (p.Ile1731Thr)
|
|
|
NM_133433.4(NIPBL):c.5225A>G (p.Lys1742Arg)
|
rs2149696733
|
|
NM_133433.4(NIPBL):c.5226-3C>T
|
|
|
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
|
|
|
NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys)
|
rs374265736
|
|
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)
|
|
|
NM_133433.4(NIPBL):c.527G>C (p.Ser176Thr)
|
rs2149607878
|
|
NM_133433.4(NIPBL):c.5329-8_5329-5del
|
|
|
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser)
|
rs587783970
|
|
NM_133433.4(NIPBL):c.5336G>A (p.Arg1779Gln)
|
|
|
NM_133433.4(NIPBL):c.5345G>C (p.Gly1782Ala)
|
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg)
|
rs1447433878
|
|
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)
|
rs483353060
|
|
NM_133433.4(NIPBL):c.5396TTG[1] (p.Val1800del)
|
rs2149698896
|
|
NM_133433.4(NIPBL):c.5427+3A>G
|
rs1363419528
|
|
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
|
|
|
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr)
|
rs587783976
|
|
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)
|
rs587783978
|
|
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
|
|
|
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
|
|
|
NM_133433.4(NIPBL):c.5574+5G>T
|
|
|
NM_133433.4(NIPBL):c.5575-5T>C
|
|
|
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val)
|
rs1750049593
|
|
NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu)
|
rs2149702419
|
|
NM_133433.4(NIPBL):c.5709+4G>C
|
|
|
NM_133433.4(NIPBL):c.5710-3T>C
|
|
|
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
|
|
|
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.5803G>A (p.Asp1935Asn)
|
|
|
NM_133433.4(NIPBL):c.5808+6_5808+8del
|
|
|
NM_133433.4(NIPBL):c.5843T>A (p.Phe1948Tyr)
|
rs1085307579
|
|
NM_133433.4(NIPBL):c.5863-31TA[11]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
|
|
|
NM_133433.4(NIPBL):c.5891A>G (p.Tyr1964Cys)
|
rs1467853729
|
|
NM_133433.4(NIPBL):c.5954A>G (p.Tyr1985Cys)
|
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
|
|
|
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.604C>G (p.Gln202Glu)
|
|
|
NM_133433.4(NIPBL):c.6065A>G (p.Lys2022Arg)
|
rs886044634
|
|
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.606A>T (p.Gln202His)
|
rs1233849776
|
|
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu)
|
rs587783992
|
|
NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=)
|
rs1486059319
|
|
NM_133433.4(NIPBL):c.6089A>G (p.Tyr2030Cys)
|
|
|
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
|
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr)
|
rs2149607994
|
|
NM_133433.4(NIPBL):c.611-3C>T
|
|
|
NM_133433.4(NIPBL):c.6143C>G (p.Ala2048Gly)
|
rs1554031795
|
|
NM_133433.4(NIPBL):c.6145A>G (p.Lys2049Glu)
|
rs587783996
|
|
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
|
|
|
NM_133433.4(NIPBL):c.6156G>T (p.Glu2052Asp)
|
rs886039531
|
|
NM_133433.4(NIPBL):c.6163G>A (p.Val2055Ile)
|
|
|
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
|
|
|
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.6194T>C (p.Phe2065Ser)
|
rs2149730877
|
|
NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile)
|
|
|
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del)
|
rs1554031820
|
|
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=)
|
rs1131691272
|
|
NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr)
|
rs797045777
|
|
NM_133433.4(NIPBL):c.6285T>G (p.Val2095=)
|
rs886044532
|
|
NM_133433.4(NIPBL):c.6290A>G (p.Asn2097Ser)
|
rs2149731340
|
|
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
|
|
|
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
|
|
|
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.6369A>T (p.Gln2123His)
|
rs369295272
|
|
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.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
|
|
|
NM_133433.4(NIPBL):c.6440T>C (p.Val2147Ala)
|
|
|
NM_133433.4(NIPBL):c.6452G>A (p.Cys2151Tyr)
|
|
|
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
|
rs1579561078
|
|
NM_133433.4(NIPBL):c.6498+4_6498+9del
|
rs1167724948
|
|
NM_133433.4(NIPBL):c.6534G>A (p.Met2178Ile)
|
|
|
NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr)
|
|
|
NM_133433.4(NIPBL):c.6548A>G (p.His2183Arg)
|
|
|
NM_133433.4(NIPBL):c.6558A>G (p.Glu2186=)
|
rs794727606
|
|
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala)
|
rs587784014
|
|
NM_133433.4(NIPBL):c.656A>G (p.His219Arg)
|
rs2149619986
|
|
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+5G>A
|
rs1554032266
|
|
NM_133433.4(NIPBL):c.6589+8dup
|
|
|
NM_133433.4(NIPBL):c.6595G>C (p.Ala2199Pro)
|
rs794727614
|
|
NM_133433.4(NIPBL):c.6604C>A (p.Gln2202Lys)
|
rs1753197620
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6658T>G (p.Leu2220Val)
|
rs2149736998
|
|
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
|
|
|
NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu)
|
|
|
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.6716C>A (p.Thr2239Asn)
|
|
|
NM_133433.4(NIPBL):c.6763T>A (p.Trp2255Arg)
|
rs794727613
|
|
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)
|
rs192822119
|
|
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
|
|
|
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
|
|
|
NM_133433.4(NIPBL):c.6854A>G (p.Gln2285Arg)
|
|
|
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
|
|
|
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly)
|
rs1401102641
|
|
NM_133433.4(NIPBL):c.6886A>T (p.Ser2296Cys)
|
rs1401102641
|
|
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly)
|
rs2149737924
|
|
NM_133433.4(NIPBL):c.6921G>C (p.Leu2307Phe)
|
|
|
NM_133433.4(NIPBL):c.6922A>T (p.Thr2308Ser)
|
rs2149737947
|
|
NM_133433.4(NIPBL):c.6955-9dup
|
|
|
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)
|
rs1064796744
|
|
NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=)
|
rs1400161680
|
|
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
|
|
|
NM_133433.4(NIPBL):c.697A>G (p.Asn233Asp)
|
rs727504038
|
|
NM_133433.4(NIPBL):c.6981C>T (p.Gly2327=)
|
rs1554033395
|
|
NM_133433.4(NIPBL):c.6988C>A (p.Pro2330Thr)
|
rs764147606
|
|
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
|
|
|
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
|
|
|
NM_133433.4(NIPBL):c.7023A>C (p.Gln2341His)
|
|
|
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe)
|
rs587784031
|
|
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val)
|
rs2149742243
|
|
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)
|
|
|
NM_133433.4(NIPBL):c.7117A>G (p.Thr2373Ala)
|
|
|
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
|
|
|
NM_133433.4(NIPBL):c.7123C>A (p.Leu2375Ile)
|
|
|
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
|
|
|
NM_133433.4(NIPBL):c.713A>G (p.Asn238Ser)
|
|
|
NM_133433.4(NIPBL):c.7166G>T (p.Ser2389Ile)
|
rs371336448
|
|
NM_133433.4(NIPBL):c.7168G>T (p.Ala2390Ser)
|
|
|
NM_133433.4(NIPBL):c.7220G>A (p.Arg2407Gln)
|
|
|
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
|
|
|
NM_133433.4(NIPBL):c.7263+3A>G
|
rs1554033589
|
|
NM_133433.4(NIPBL):c.731G>A (p.Ser244Asn)
|
|
|
NM_133433.4(NIPBL):c.7330G>A (p.Glu2444Lys)
|
rs1554034440
|
|
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.7379C>G (p.Ser2460Cys)
|
rs1561222713
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
|
|
|
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
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NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
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NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
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NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
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NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys)
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rs1561224805
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NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
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NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
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NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
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rs759115050
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NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
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NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
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NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)
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rs1754384795
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NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly)
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rs1754386332
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NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
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rs587784044
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NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
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NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly)
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rs756187678
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NM_133433.4(NIPBL):c.7553A>T (p.Asp2518Val)
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NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
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NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
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NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
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NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp)
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rs587784045
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NM_133433.4(NIPBL):c.7691T>C (p.Ile2564Thr)
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NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
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NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
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rs80358351
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NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln)
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NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
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NM_133433.4(NIPBL):c.7765C>T (p.His2589Tyr)
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NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
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NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr)
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rs2149755591
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NM_133433.4(NIPBL):c.7838G>A (p.Ser2613Asn)
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NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu)
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rs886060560
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NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
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NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val)
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rs1030959034
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NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
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NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
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NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
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NM_133433.4(NIPBL):c.7967G>T (p.Gly2656Val)
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NM_133433.4(NIPBL):c.8049+6G>A
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NM_133433.4(NIPBL):c.8050-5T>A
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NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
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NM_133433.4(NIPBL):c.8105A>C (p.Asn2702Thr)
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NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
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NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)
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NM_133433.4(NIPBL):c.8166A>G (p.Pro2722=)
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rs727504048
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NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser)
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rs886060561
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NM_133433.4(NIPBL):c.8249A>G (p.Glu2750Gly)
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NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
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NM_133433.4(NIPBL):c.8258G>A (p.Arg2753His)
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NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu)
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rs868294395
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NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
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NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
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NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
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NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu)
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rs2149761150
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NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
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NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
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NM_133433.4(NIPBL):c.832G>A (p.Val278Ile)
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NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)
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rs587784057
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NM_133433.4(NIPBL):c.835T>A (p.Cys279Ser)
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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.837C>G (p.Cys279Trp)
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NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
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NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
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NM_133433.4(NIPBL):c.8414A>C (p.Ter2805Ser)
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rs778876578
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NM_133433.4(NIPBL):c.841C>G (p.Pro281Ala)
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rs1742903184
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NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
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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.869G>A (p.Gly290Asp)
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NM_133433.4(NIPBL):c.873A>C (p.Ser291=)
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rs1743370604
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NM_133433.4(NIPBL):c.878C>T (p.Pro293Leu)
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NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
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NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
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NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
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rs587784064
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NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
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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.967C>G (p.Gln323Glu)
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NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
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