NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
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
|
0.00363
|
NM_133433.4(NIPBL):c.-312T>A
|
rs540966156
|
0.00284
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00134
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00060
|
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.5709+4G>A
|
rs370325589
|
0.00047
|
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr)
|
rs138514909
|
0.00041
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_133433.4(NIPBL):c.5011-13A>G
|
rs13177643
|
0.00036
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00034
|
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
|
0.00023
|
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
|
rs138828510
|
0.00021
|
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)
|
rs116049172
|
0.00019
|
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
|
rs140891645
|
0.00018
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00017
|
NM_133433.4(NIPBL):c.3665-10G>A
|
rs200744764
|
0.00017
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00016
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
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.5226-11T>C
|
rs375923130
|
0.00014
|
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.2352A>G (p.Gln784=)
|
rs61755038
|
0.00011
|
NM_133433.4(NIPBL):c.3856-18A>G
|
rs374094831
|
0.00011
|
NM_133433.4(NIPBL):c.4560+19G>A
|
rs201403933
|
0.00011
|
NM_133433.4(NIPBL):c.458+17del
|
rs767864179
|
0.00011
|
NM_133433.4(NIPBL):c.4776+12G>A
|
rs199632698
|
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.1026G>A (p.Ala342=)
|
rs370389105
|
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.2187T>A (p.Gly729=)
|
rs756935314
|
0.00009
|
NM_133433.4(NIPBL):c.458+7T>C
|
rs200829209
|
0.00009
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00009
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00009
|
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
|
rs146209296
|
0.00009
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00008
|
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.2105C>T (p.Thr702Ile)
|
rs372162252
|
0.00007
|
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
|
rs150369438
|
0.00007
|
NM_133433.4(NIPBL):c.3575-19A>G
|
rs369824627
|
0.00007
|
NM_133433.4(NIPBL):c.3768+15T>C
|
rs367616618
|
0.00007
|
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=)
|
rs531615496
|
0.00007
|
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
|
rs759492239
|
0.00007
|
NM_133433.4(NIPBL):c.5574+5G>T
|
rs745769829
|
0.00007
|
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
|
rs538985170
|
0.00006
|
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp)
|
rs148420552
|
0.00006
|
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser)
|
rs557147929
|
0.00006
|
NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)
|
rs752327065
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.6954+3A>G
|
rs769439754
|
0.00006
|
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)
|
rs398124470
|
0.00006
|
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=)
|
rs1286310849
|
0.00006
|
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp)
|
rs751913459
|
0.00005
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00005
|
NM_133433.4(NIPBL):c.5010+18T>C
|
rs760245618
|
0.00005
|
NM_133433.4(NIPBL):c.5329-17del
|
rs773593197
|
0.00005
|
NM_133433.4(NIPBL):c.5574+7T>G
|
rs200982549
|
0.00005
|
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
|
rs562557528
|
0.00005
|
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
|
rs779759181
|
0.00005
|
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.3664+19A>G
|
rs371144121
|
0.00004
|
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
|
rs760960982
|
0.00004
|
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=)
|
rs369177620
|
0.00004
|
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
|
rs761398208
|
0.00004
|
NM_133433.4(NIPBL):c.6250-11A>G
|
rs545271521
|
0.00004
|
NM_133433.4(NIPBL):c.6343+10A>G
|
rs767173489
|
0.00004
|
NM_133433.4(NIPBL):c.948A>G (p.Leu316=)
|
rs201213428
|
0.00004
|
NM_133433.4(NIPBL):c.1629T>C (p.Ile543=)
|
rs778086908
|
0.00003
|
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
|
rs755001260
|
0.00003
|
NM_133433.4(NIPBL):c.230+19A>G
|
rs749141253
|
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.3018A>G (p.Gln1006=)
|
rs776669672
|
0.00003
|
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
|
rs544459951
|
0.00003
|
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=)
|
rs1356246775
|
0.00003
|
NM_133433.4(NIPBL):c.458+18C>T
|
rs759013143
|
0.00003
|
NM_133433.4(NIPBL):c.5226-4G>A
|
rs370826969
|
0.00003
|
NM_133433.4(NIPBL):c.611-8A>G
|
rs372555863
|
0.00003
|
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018
|
0.00003
|
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
|
rs772030142
|
0.00003
|
NM_133433.4(NIPBL):c.732T>C (p.Ser244=)
|
rs1041133270
|
0.00003
|
NM_133433.4(NIPBL):c.772-12C>T
|
rs756589091
|
0.00003
|
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
|
rs780857060
|
0.00003
|
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.1920A>G (p.Leu640=)
|
rs530214717
|
0.00002
|
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
|
rs1342549115
|
0.00002
|
NM_133433.4(NIPBL):c.2616T>C (p.His872=)
|
rs750703789
|
0.00002
|
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
|
rs762876279
|
0.00002
|
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=)
|
rs1038314771
|
0.00002
|
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
|
rs765533064
|
0.00002
|
NM_133433.4(NIPBL):c.300G>A (p.Leu100=)
|
rs768550843
|
0.00002
|
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=)
|
rs768002739
|
0.00002
|
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=)
|
rs373206831
|
0.00002
|
NM_133433.4(NIPBL):c.4421+20G>T
|
rs757831744
|
0.00002
|
NM_133433.4(NIPBL):c.458+19G>A
|
rs374889149
|
0.00002
|
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=)
|
rs756897581
|
0.00002
|
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys)
|
rs780708835
|
0.00002
|
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
|
rs986105665
|
0.00002
|
NM_133433.4(NIPBL):c.5428-20T>G
|
rs774709184
|
0.00002
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=)
|
rs1193127395
|
0.00002
|
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
|
rs1297675054
|
0.00002
|
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
|
rs992031835
|
0.00002
|
NM_133433.4(NIPBL):c.8049+7C>T
|
rs750822770
|
0.00002
|
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
|
rs1446565425
|
0.00002
|
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
|
rs200872976
|
0.00002
|
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=)
|
rs778876578
|
0.00002
|
NM_133433.4(NIPBL):c.869-15G>A
|
rs754264503
|
0.00002
|
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=)
|
rs767162047
|
0.00001
|
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)
|
rs768113851
|
0.00001
|
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser)
|
rs777670369
|
0.00001
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
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.1434G>A (p.Glu478=)
|
rs750562280
|
0.00001
|
NM_133433.4(NIPBL):c.1496-9A>G
|
rs754119799
|
0.00001
|
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
|
rs764259165
|
0.00001
|
NM_133433.4(NIPBL):c.2092T>C (p.Ser698Pro)
|
rs550141620
|
0.00001
|
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
|
rs750217822
|
0.00001
|
NM_133433.4(NIPBL):c.230+10A>T
|
rs1342924796
|
0.00001
|
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
|
rs1294397303
|
0.00001
|
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
|
rs1242189905
|
0.00001
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
|
rs200496609
|
0.00001
|
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)
|
rs774346043
|
0.00001
|
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
|
rs780317958
|
0.00001
|
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=)
|
rs765887558
|
0.00001
|
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
|
rs777976223
|
0.00001
|
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
|
rs1419197381
|
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.3664+11C>T
|
rs954328973
|
0.00001
|
NM_133433.4(NIPBL):c.3664+8C>T
|
rs377059468
|
0.00001
|
NM_133433.4(NIPBL):c.4087+9G>A
|
rs757255852
|
0.00001
|
NM_133433.4(NIPBL):c.4087+9del
|
rs764679386
|
0.00001
|
NM_133433.4(NIPBL):c.4088-8del
|
rs762012135
|
0.00001
|
NM_133433.4(NIPBL):c.4088-9T>C
|
rs762204285
|
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.4335T>C (p.Tyr1445=)
|
rs767317539
|
0.00001
|
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
|
rs769152836
|
0.00001
|
NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
|
rs757439561
|
0.00001
|
NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)
|
rs1472682348
|
0.00001
|
NM_133433.4(NIPBL):c.4921-4A>G
|
rs368263380
|
0.00001
|
NM_133433.4(NIPBL):c.5011-16T>G
|
rs1749493331
|
0.00001
|
NM_133433.4(NIPBL):c.5011-8C>T
|
rs572178354
|
0.00001
|
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
|
rs765047071
|
0.00001
|
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
|
rs780337526
|
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.5307C>T (p.Ser1769=)
|
rs1486487706
|
0.00001
|
NM_133433.4(NIPBL):c.5328+20C>T
|
rs757752804
|
0.00001
|
NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=)
|
rs1394378576
|
0.00001
|
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
|
rs1327045367
|
0.00001
|
NM_133433.4(NIPBL):c.5575-5T>C
|
rs780152442
|
0.00001
|
NM_133433.4(NIPBL):c.5814A>G (p.Ala1938=)
|
rs375622324
|
0.00001
|
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=)
|
rs80358360
|
0.00001
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
0.00001
|
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
|
rs953071807
|
0.00001
|
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
|
rs1031417413
|
0.00001
|
NM_133433.4(NIPBL):c.606A>G (p.Gln202=)
|
rs1233849776
|
0.00001
|
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
|
rs755732764
|
0.00001
|
NM_133433.4(NIPBL):c.6249+17C>T
|
rs1004419718
|
0.00001
|
NM_133433.4(NIPBL):c.6250-13C>T
|
rs770140635
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)
|
rs1378050646
|
0.00001
|
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
|
rs1752958310
|
0.00001
|
NM_133433.4(NIPBL):c.6763+13A>G
|
rs747383102
|
0.00001
|
NM_133433.4(NIPBL):c.6763+18T>C
|
rs781736801
|
0.00001
|
NM_133433.4(NIPBL):c.6764-6T>C
|
rs1260323204
|
0.00001
|
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
|
rs201968259
|
0.00001
|
NM_133433.4(NIPBL):c.6954+7A>G
|
rs765095458
|
0.00001
|
NM_133433.4(NIPBL):c.6955-20A>T
|
rs1489274110
|
0.00001
|
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)
|
rs1424732133
|
0.00001
|
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
|
rs139894113
|
0.00001
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
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.771+20T>G
|
rs373739863
|
0.00001
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
|
rs760603031
|
0.00001
|
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
|
rs758683339
|
0.00001
|
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
|
rs774414570
|
0.00001
|
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
|
rs763443745
|
0.00001
|
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=)
|
rs997526101
|
0.00001
|
NM_133433.4(NIPBL):c.117C>T (p.Ser39=)
|
|
|
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
|
rs781405794
|
|
NM_133433.4(NIPBL):c.1278A>T (p.Thr426=)
|
rs781405794
|
|
NM_133433.4(NIPBL):c.1302G>C (p.Val434=)
|
rs769279620
|
|
NM_133433.4(NIPBL):c.1302G>T (p.Val434=)
|
rs769279620
|
|
NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
|
rs2478986791
|
|
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
|
rs2479130247
|
|
NM_133433.4(NIPBL):c.1495+11C>G
|
rs749655381
|
|
NM_133433.4(NIPBL):c.1495+18_1495+20del
|
|
|
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
|
rs2477917598
|
|
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
|
rs2149643066
|
|
NM_133433.4(NIPBL):c.1590T>C (p.Ser530=)
|
|
|
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
|
rs1182594394
|
|
NM_133433.4(NIPBL):c.1806A>G (p.Lys602=)
|
|
|
NM_133433.4(NIPBL):c.1827A>C (p.Ser609=)
|
|
|
NM_133433.4(NIPBL):c.2004A>C (p.Ile668=)
|
|
|
NM_133433.4(NIPBL):c.2013T>G (p.Pro671=)
|
|
|
NM_133433.4(NIPBL):c.201T>C (p.His67=)
|
|
|
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
|
rs1341978285
|
|
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
|
rs1744622283
|
|
NM_133433.4(NIPBL):c.2148A>G (p.Gln716=)
|
|
|
NM_133433.4(NIPBL):c.2160G>A (p.Gly720=)
|
|
|
NM_133433.4(NIPBL):c.230+18T>C
|
rs775446742
|
|
NM_133433.4(NIPBL):c.231-20A>G
|
|
|
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
|
rs746173840
|
|
NM_133433.4(NIPBL):c.2655A>G (p.Glu885=)
|
|
|
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
|
rs1256938703
|
|
NM_133433.4(NIPBL):c.2739A>G (p.Pro913=)
|
|
|
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
|
rs2477937607
|
|
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
|
rs2477939747
|
|
NM_133433.4(NIPBL):c.2946G>A (p.Pro982=)
|
|
|
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
|
rs749086242
|
|
NM_133433.4(NIPBL):c.3021A>G (p.Lys1007=)
|
|
|
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met)
|
rs1561119475
|
|
NM_133433.4(NIPBL):c.3108A>G (p.Ser1036=)
|
|
|
NM_133433.4(NIPBL):c.3121+19A>C
|
rs770046926
|
|
NM_133433.4(NIPBL):c.3121+7A>C
|
rs2477943518
|
|
NM_133433.4(NIPBL):c.3122-17T>G
|
rs752419504
|
|
NM_133433.4(NIPBL):c.3165C>T (p.Leu1055=)
|
|
|
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
|
rs2478032477
|
|
NM_133433.4(NIPBL):c.3304+14A>C
|
|
|
NM_133433.4(NIPBL):c.3305-13G>A
|
|
|
NM_133433.4(NIPBL):c.3305-17T>C
|
rs2478076632
|
|
NM_133433.4(NIPBL):c.3306C>T (p.Ser1102=)
|
|
|
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
|
rs1240297882
|
|
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
|
rs2478078415
|
|
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu)
|
rs1746665222
|
|
NM_133433.4(NIPBL):c.3502+10del
|
|
|
NM_133433.4(NIPBL):c.3502+20G>A
|
rs765270376
|
|
NM_133433.4(NIPBL):c.3503-12T>C
|
rs2478084962
|
|
NM_133433.4(NIPBL):c.3575-9C>T
|
rs762888772
|
|
NM_133433.4(NIPBL):c.358+19G>C
|
|
|
NM_133433.4(NIPBL):c.3769-8T>A
|
rs759822571
|
|
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)
|
rs2478114988
|
|
NM_133433.4(NIPBL):c.3796T>C (p.Leu1266=)
|
|
|
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
|
rs1160043014
|
|
NM_133433.4(NIPBL):c.3856-10T>G
|
rs2149676690
|
|
NM_133433.4(NIPBL):c.3856-15A>C
|
|
|
NM_133433.4(NIPBL):c.3856-23_3856-13del
|
rs748846456
|
|
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
|
rs777857860
|
|
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser)
|
rs1580451626
|
|
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
|
rs2478147185
|
|
NM_133433.4(NIPBL):c.4087+15_4087+20del
|
rs890998022
|
|
NM_133433.4(NIPBL):c.4087+18C>G
|
rs2478149007
|
|
NM_133433.4(NIPBL):c.4088-6T>C
|
rs2478156720
|
|
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
|
rs2478157588
|
|
NM_133433.4(NIPBL):c.4212A>G (p.Gln1404=)
|
|
|
NM_133433.4(NIPBL):c.4239+7T>C
|
rs2478158871
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
NM_133433.4(NIPBL):c.4321-6A>G
|
rs1747724343
|
|
NM_133433.4(NIPBL):c.4421+15_4421+16del
|
rs758641197
|
|
NM_133433.4(NIPBL):c.4421+18_4421+19del
|
rs1441796137
|
|
NM_133433.4(NIPBL):c.4422-8_4422-5del
|
|
|
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
|
rs2479027605
|
|
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
|
rs1426453183
|
|
NM_133433.4(NIPBL):c.4560+19G>T
|
rs201403933
|
|
NM_133433.4(NIPBL):c.4561-4C>A
|
|
|
NM_133433.4(NIPBL):c.458+9T>C
|
rs1246476225
|
|
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
|
rs1748727860
|
|
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)
|
rs968768950
|
|
NM_133433.4(NIPBL):c.462G>A (p.Arg154=)
|
rs769203117
|
|
NM_133433.4(NIPBL):c.4643+10A>G
|
rs2149688689
|
|
NM_133433.4(NIPBL):c.4644-16A>G
|
rs1156302790
|
|
NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT
|
rs748963945
|
|
NM_133433.4(NIPBL):c.4777-14_4777-13del
|
|
|
NM_133433.4(NIPBL):c.4777-16C>A
|
rs2478278768
|
|
NM_133433.4(NIPBL):c.4777-6A>G
|
rs1580483669
|
|
NM_133433.4(NIPBL):c.4815A>G (p.Leu1605=)
|
|
|
NM_133433.4(NIPBL):c.4857G>A (p.Arg1619=)
|
|
|
NM_133433.4(NIPBL):c.4920+13_4920+14del
|
|
|
NM_133433.4(NIPBL):c.4921-5T>A
|
|
|
NM_133433.4(NIPBL):c.4940A>G (p.Glu1647Gly)
|
rs2478303864
|
|
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
|
rs991961265
|
|
NM_133433.4(NIPBL):c.5010+20T>C
|
|
|
NM_133433.4(NIPBL):c.5011-19C>G
|
rs572959962
|
|
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
|
rs2478315530
|
|
NM_133433.4(NIPBL):c.513T>C (p.Asn171=)
|
|
|
NM_133433.4(NIPBL):c.5225+8C>A
|
|
|
NM_133433.4(NIPBL):c.5226-18A>G
|
|
|
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=)
|
rs758853244
|
|
NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)
|
rs1749720729
|
|
NM_133433.4(NIPBL):c.5427+16G>A
|
rs753342252
|
|
NM_133433.4(NIPBL):c.5427+20C>T
|
rs148675296
|
|
NM_133433.4(NIPBL):c.5427+24_5427+27del
|
rs766538036
|
|
NM_133433.4(NIPBL):c.5428-7T>C
|
|
|
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
|
rs2479033622
|
|
NM_133433.4(NIPBL):c.5553T>C (p.Asp1851=)
|
|
|
NM_133433.4(NIPBL):c.5571A>T (p.Ile1857=)
|
|
|
NM_133433.4(NIPBL):c.5574+11C>A
|
rs2478341925
|
|
NM_133433.4(NIPBL):c.5575-13T>C
|
|
|
NM_133433.4(NIPBL):c.5575-16del
|
|
|
NM_133433.4(NIPBL):c.5575-8G>C
|
|
|
NM_133433.4(NIPBL):c.5710-13C>G
|
rs562131143
|
|
NM_133433.4(NIPBL):c.5809-18T>A
|
rs2478395809
|
|
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
|
rs2478395979
|
|
NM_133433.4(NIPBL):c.5862+10C>G
|
|
|
NM_133433.4(NIPBL):c.5863-19_5863-2del
|
rs753611931
|
|
NM_133433.4(NIPBL):c.5972-14G>C
|
rs374831448
|
|
NM_133433.4(NIPBL):c.5972-16_5972-15del
|
rs1327351282
|
|
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=)
|
rs2149721385
|
|
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=)
|
rs745516748
|
|
NM_133433.4(NIPBL):c.6108+13C>T
|
rs925045027
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
NM_133433.4(NIPBL):c.611-14_611-12del
|
rs2479088521
|
|
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=)
|
rs1579556694
|
|
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
|
rs748074172
|
|
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
|
rs149769284
|
|
NM_133433.4(NIPBL):c.6249+14T>G
|
rs2149730972
|
|
NM_133433.4(NIPBL):c.6249+18C>G
|
rs1454110019
|
|
NM_133433.4(NIPBL):c.6250-13C>G
|
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
NM_133433.4(NIPBL):c.6343+15A>C
|
|
|
NM_133433.4(NIPBL):c.6343+17G>C
|
|
|
NM_133433.4(NIPBL):c.636A>T (p.Ala212=)
|
|
|
NM_133433.4(NIPBL):c.6375A>G (p.Gln2125=)
|
|
|
NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)
|
rs1045339322
|
|
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)
|
rs1045339322
|
|
NM_133433.4(NIPBL):c.64+13A>G
|
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133433.4(NIPBL):c.6589+13T>C
|
rs1250325513
|
|
NM_133433.4(NIPBL):c.6589+18T>C
|
|
|
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
|
rs773628266
|
|
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
|
rs2478617995
|
|
NM_133433.4(NIPBL):c.6764-10G>A
|
rs2478623429
|
|
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu)
|
rs947067048
|
|
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)
|
rs192822119
|
|
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
|
rs778420641
|
|
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
|
rs1235145321
|
|
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
|
rs1321886642
|
|
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
|
rs2478625186
|
|
NM_133433.4(NIPBL):c.6954+13T>G
|
rs2478625670
|
|
NM_133433.4(NIPBL):c.6954+18C>T
|
rs1753280855
|
|
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
|
rs762930515
|
|
NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=)
|
rs1400161680
|
|
NM_133433.4(NIPBL):c.7023A>G (p.Gln2341=)
|
|
|
NM_133433.4(NIPBL):c.7062+7_7062+8del
|
rs746185595
|
|
NM_133433.4(NIPBL):c.7063-11A>C
|
rs144718523
|
|
NM_133433.4(NIPBL):c.7077T>C (p.Ala2359=)
|
|
|
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
|
rs148375273
|
|
NM_133433.4(NIPBL):c.7164T>A (p.Ser2388=)
|
|
|
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
|
rs773405443
|
|
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=)
|
rs1579583689
|
|
NM_133433.4(NIPBL):c.7264-19T>C
|
rs1236742558
|
|
NM_133433.4(NIPBL):c.7264-7T>C
|
rs775991611
|
|
NM_133433.4(NIPBL):c.7323G>A (p.Gln2441=)
|
|
|
NM_133433.4(NIPBL):c.741C>T (p.Tyr247=)
|
|
|
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
|
rs1426672358
|
|
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
|
rs780356036
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
|
|
|
NM_133433.4(NIPBL):c.7551C>T (p.Asp2517=)
|
|
|
NM_133433.4(NIPBL):c.771+13T>C
|
|
|
NM_133433.4(NIPBL):c.771+20T>A
|
|
|
NM_133433.4(NIPBL):c.7716T>C (p.Ser2572=)
|
|
|
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
|
rs1258848996
|
|
NM_133433.4(NIPBL):c.7812C>G (p.Ser2604=)
|
|
|
NM_133433.4(NIPBL):c.7861-19T>C
|
|
|
NM_133433.4(NIPBL):c.7861-9T>G
|
rs777258869
|
|
NM_133433.4(NIPBL):c.7872C>G (p.Leu2624=)
|
|
|
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
|
rs1755081524
|
|
NM_133433.4(NIPBL):c.7956A>G (p.Ser2652=)
|
|
|
NM_133433.4(NIPBL):c.8050-8T>C
|
rs2478768382
|
|
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
|
rs2479097805
|
|
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
|
rs1366850491
|
|
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
|
rs2478771025
|
|
NM_133433.4(NIPBL):c.834A>G (p.Val278=)
|
rs377714862
|
|
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
|
rs377714862
|
|
NM_133433.4(NIPBL):c.8409C>A (p.Ser2803=)
|
|
|
NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
|
rs1742903458
|
|
NM_133433.4(NIPBL):c.868+16A>G
|
rs2479098567
|
|
NM_133433.4(NIPBL):c.868+17A>G
|
rs2479098583
|
|
NM_133433.4(NIPBL):c.868+4C>T
|
rs751127087
|
|
NM_133433.4(NIPBL):c.868+8T>A
|
rs2479098504
|
|
NM_133433.4(NIPBL):c.879A>C (p.Pro293=)
|
|
|
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
|
rs760114555
|
|
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
|
rs587784064
|
|
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
|
rs755928572
|
|
NM_133433.4(NIPBL):c.99T>C (p.Pro33=)
|
rs1232312013
|
|
NM_133433.4(NIPBL):c.9G>T (p.Gly3=)
|
|
|