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
|
0.00354
|
NM_133433.4(NIPBL):c.-312T>A
|
rs540966156
|
0.00284
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
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.7807A>T (p.Asn2603Tyr)
|
rs138514909
|
0.00043
|
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.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.1992C>T (p.Asn664=)
|
rs116049172
|
0.00019
|
NM_133433.4(NIPBL):c.3665-10G>A
|
rs200744764
|
0.00017
|
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.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
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.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=)
|
rs141545751
|
0.00011
|
NM_133433.4(NIPBL):c.4776+12G>A
|
rs199632698
|
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.2105C>T (p.Thr702Ile)
|
rs372162252
|
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.7590A>G (p.Ser2530=)
|
rs1286310849
|
0.00006
|
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp)
|
rs751913459
|
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.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser)
|
rs557147929
|
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.948A>G (p.Leu316=)
|
rs201213428
|
0.00004
|
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.4203A>G (p.Leu1401=)
|
rs1356246775
|
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.6613A>G (p.Ser2205Gly)
|
rs587784018
|
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.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.3204T>C (p.Arg1068=)
|
rs768002739
|
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.8414A>G (p.Ter2805=)
|
rs778876578
|
0.00002
|
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.230+10A>T
|
rs1342924796
|
0.00001
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)
|
rs774346043
|
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.4087+9G>A
|
rs757255852
|
0.00001
|
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=)
|
rs752419634
|
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.585C>T (p.Tyr195=)
|
rs80358360
|
0.00001
|
NM_133433.4(NIPBL):c.606A>G (p.Gln202=)
|
rs1233849776
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
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.772-8A>G
|
rs398124473
|
0.00001
|
NM_133433.4(NIPBL):c.*282_*285del
|
rs535770794
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
NM_133433.4(NIPBL):c.-429del
|
rs376839773
|
|
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
|
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
|
|
|
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
|
|
|
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=)
|
|
|
NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
|
|
|
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
|
|
|
NM_133433.4(NIPBL):c.1495+11C>G
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
|
|
|
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
|
|
|
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
|
|
|
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
|
|
|
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
|
|
|
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
|
|
|
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
|
|
|
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
|
|
|
NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)
|
|
|
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
|
|
|
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
|
|
|
NM_133433.4(NIPBL):c.230+18T>C
|
|
|
NM_133433.4(NIPBL):c.230+19A>G
|
|
|
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
|
|
|
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
|
|
|
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
|
|
|
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
|
|
|
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
|
|
|
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
|
|
|
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
|
|
|
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
|
|
|
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
|
|
|
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
|
|
|
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
|
|
|
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
|
|
|
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met)
|
rs1561119475
|
|
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.3255T>C (p.Tyr1085=)
|
|
|
NM_133433.4(NIPBL):c.3305-17T>C
|
|
|
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
|
|
|
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
|
|
|
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
|
|
|
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu)
|
rs1746665222
|
|
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
|
|
|
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.3537G>A (p.Lys1179=)
|
|
|
NM_133433.4(NIPBL):c.3575-19A>G
|
|
|
NM_133433.4(NIPBL):c.3575-9C>T
|
|
|
NM_133433.4(NIPBL):c.3664+11C>T
|
|
|
NM_133433.4(NIPBL):c.3664+19A>G
|
|
|
NM_133433.4(NIPBL):c.3664+8C>T
|
|
|
NM_133433.4(NIPBL):c.3768+15T>C
|
|
|
NM_133433.4(NIPBL):c.3769-8T>A
|
|
|
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)
|
|
|
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
|
|
|
NM_133433.4(NIPBL):c.3856-10T>G
|
rs2149676690
|
|
NM_133433.4(NIPBL):c.3856-18A>G
|
|
|
NM_133433.4(NIPBL):c.3856-23_3856-13del
|
|
|
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
|
|
|
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser)
|
rs1580451626
|
|
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
|
|
|
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.4088-6T>C
|
|
|
NM_133433.4(NIPBL):c.4088-8del
|
|
|
NM_133433.4(NIPBL):c.4088-9T>C
|
|
|
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
|
|
|
NM_133433.4(NIPBL):c.4239+7T>C
|
|
|
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
|
|
|
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
|
|
|
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.4449A>G (p.Glu1483=)
|
|
|
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
|
|
|
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
|
|
|
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
|
|
|
NM_133433.4(NIPBL):c.4560+19G>A
|
|
|
NM_133433.4(NIPBL):c.4560+19G>T
|
|
|
NM_133433.4(NIPBL):c.458+17del
|
|
|
NM_133433.4(NIPBL):c.458+19G>A
|
|
|
NM_133433.4(NIPBL):c.458+9T>C
|
|
|
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
|
|
|
NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
|
|
|
NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)
|
|
|
NM_133433.4(NIPBL):c.462G>A (p.Arg154=)
|
rs769203117
|
|
NM_133433.4(NIPBL):c.4643+10A>G
|
|
|
NM_133433.4(NIPBL):c.4644-16A>G
|
|
|
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
|
|
|
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.4830T>G (p.Leu1610=)
|
|
|
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.5010+18T>C
|
|
|
NM_133433.4(NIPBL):c.5011-16T>G
|
|
|
NM_133433.4(NIPBL):c.5011-19C>G
|
|
|
NM_133433.4(NIPBL):c.5011-8C>T
|
|
|
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
|
|
|
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
|
|
|
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
|
|
|
NM_133433.4(NIPBL):c.5226-11T>C
|
|
|
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=)
|
rs758853244
|
|
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)
|
|
|
NM_133433.4(NIPBL):c.5328+20C>T
|
|
|
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.5428-20T>G
|
|
|
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
|
|
|
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
|
|
|
NM_133433.4(NIPBL):c.5574+11C>A
|
|
|
NM_133433.4(NIPBL):c.5574+7T>G
|
|
|
NM_133433.4(NIPBL):c.5710-13C>G
|
|
|
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
|
|
|
NM_133433.4(NIPBL):c.5809-18T>A
|
|
|
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
|
|
|
NM_133433.4(NIPBL):c.5863-19_5863-2del
|
rs753611931
|
|
NM_133433.4(NIPBL):c.5972-14G>C
|
|
|
NM_133433.4(NIPBL):c.5972-16_5972-15del
|
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=)
|
rs2149721385
|
|
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
|
|
|
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
|
|
|
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=)
|
rs745516748
|
|
NM_133433.4(NIPBL):c.6108+13C>T
|
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
NM_133433.4(NIPBL):c.611-14_611-12del
|
|
|
NM_133433.4(NIPBL):c.611-8A>G
|
|
|
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
|
|
|
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=)
|
rs1579556694
|
|
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
|
|
|
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
|
|
|
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.6250-11A>G
|
|
|
NM_133433.4(NIPBL):c.6250-13C>T
|
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
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.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)
|
|
|
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
|
|
|
NM_133433.4(NIPBL):c.6589+13T>C
|
|
|
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
|
|
|
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
|
|
|
NM_133433.4(NIPBL):c.6763+13A>G
|
|
|
NM_133433.4(NIPBL):c.6763+18T>C
|
|
|
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.6792A>G (p.Leu2264=)
|
|
|
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
|
|
|
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
|
|
|
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
|
|
|
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
|
|
|
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
|
|
|
NM_133433.4(NIPBL):c.6954+13T>G
|
|
|
NM_133433.4(NIPBL):c.6954+18C>T
|
|
|
NM_133433.4(NIPBL):c.6954+7A>G
|
|
|
NM_133433.4(NIPBL):c.6955-20A>T
|
|
|
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
|
|
|
NM_133433.4(NIPBL):c.7062+7_7062+8del
|
|
|
NM_133433.4(NIPBL):c.7063-11A>C
|
|
|
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
|
|
|
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
|
|
|
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
|
|
|
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
|
|
|
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
|
|
|
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=)
|
rs1579583689
|
|
NM_133433.4(NIPBL):c.7264-19T>C
|
|
|
NM_133433.4(NIPBL):c.7264-7T>C
|
|
|
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
|
|
|
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
|
|
|
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)
|
rs1216631170
|
|
NM_133433.4(NIPBL):c.771+20T>G
|
|
|
NM_133433.4(NIPBL):c.772-12C>T
|
|
|
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
|
|
|
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
|
|
|
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
|
|
|
NM_133433.4(NIPBL):c.7861-9T>G
|
|
|
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
|
|
|
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
|
|
|
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
|
|
|
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
|
|
|
NM_133433.4(NIPBL):c.8049+7C>T
|
|
|
NM_133433.4(NIPBL):c.8050-8T>C
|
|
|
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
|
|
|
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
|
|
|
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
|
|
|
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
|
|
|
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
|
|
|
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
|
|
|
NM_133433.4(NIPBL):c.834A>G (p.Val278=)
|
rs377714862
|
|
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
|
|
|
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=)
|
rs997526101
|
|
NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
|
|
|
NM_133433.4(NIPBL):c.868+16A>G
|
|
|
NM_133433.4(NIPBL):c.868+17A>G
|
|
|
NM_133433.4(NIPBL):c.868+8T>A
|
|
|
NM_133433.4(NIPBL):c.869-15G>A
|
|
|
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
|
|
|
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
|
|
|
NM_133433.4(NIPBL):c.99T>C (p.Pro33=)
|
|
|