ClinVar Miner

List of variants in gene NIPBL reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 813
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HGVS dbSNP gnomAD frequency
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.4245A>C (p.Ser1415=) rs138440449 0.00229
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.2256A>G (p.Glu752=) rs148075057 0.00101
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.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.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.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.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.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.869-16C>T rs3736396 0.00022
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_133433.4(NIPBL):c.3665-10G>A rs200744764 0.00017
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
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.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.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.8085G>A (p.Thr2695=) rs201036501 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.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.6954+3A>G rs769439754 0.00007
NM_133433.4(NIPBL):c.111A>G (p.Thr37=) rs576203422 0.00006
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.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) rs1286310849 0.00006
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp) rs751913459 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.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.1629T>C (p.Ile543=) rs778086908 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.2120G>T (p.Gly707Val) rs768620796 0.00004
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) rs188565385 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.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.6343+10A>G rs767173489 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.948A>G (p.Leu316=) rs201213428 0.00004
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 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.3493C>T (p.Leu1165Phe) rs540365485 0.00003
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) rs1356246775 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 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.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 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.1383A>G (p.Gln461=) rs1488544687 0.00002
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 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.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=) rs768002739 0.00002
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val) rs1223302517 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.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 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.1583C>T (p.Thr528Met) rs574981584 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 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.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 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.2703T>C (p.Asn901=) rs774346043 0.00001
NM_133433.4(NIPBL):c.2910T>C (p.Thr970=) rs1045615108 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 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.3574+20A>C rs530238141 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.3894C>G (p.Asp1298Glu) rs770936588 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.42G>A (p.Ala14=) rs727504045 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.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys) rs1355970346 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.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.7411-15G>A rs374348403 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) rs398124472 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NC_000005.10:g.(?_36953616)_(37017182_?)del
NC_000005.10:g.(?_37038582)_(37038758_?)del
NC_000005.10:g.(?_37044327)_(37049321_?)del
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_36953718)_(37027534_?)del
NC_000005.9:g.(?_36953799)_(37064994_?)del
NC_000005.9:g.(?_36958186)_(36962396_?)del
NC_000005.9:g.(?_37002744)_(37008845_?)del
NC_000005.9:g.(?_37002744)_(37046321_?)dup
NC_000005.9:g.(?_37036461)_(37036609_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NM_133433.4(NIPBL):c.-315del
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs) rs1743386760
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
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.1075dup (p.Thr359fs)
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
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.1235G>A (p.Arg412His)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
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.1336A>T (p.Lys446Ter)
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) rs1561102868
NM_133433.4(NIPBL):c.1495+11C>G
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) rs34314728
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
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.1669A>G (p.Ile557Val)
NM_133433.4(NIPBL):c.1672del (p.Thr558fs) rs2149643317
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
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.1786_1790del (p.Asn595_His596insTer) rs2149643596
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) rs2149643696
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
NM_133433.4(NIPBL):c.1905A>G (p.Ser635=) rs1211776361
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
NM_133433.4(NIPBL):c.1942del (p.Thr648fs) rs2149644023
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) rs2149644038
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
NM_133433.4(NIPBL):c.19del (p.His7fs)
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
NM_133433.4(NIPBL):c.2120del (p.Gly707fs) rs1580396071
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
NM_133433.4(NIPBL):c.2207del (p.Pro736fs) rs2149644816
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
NM_133433.4(NIPBL):c.230+18T>C
NM_133433.4(NIPBL):c.230+19A>G
NM_133433.4(NIPBL):c.230+5G>A rs1580323183
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
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.2392G>C (p.Ala798Pro)
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs) rs1744682329
NM_133433.4(NIPBL):c.241del (p.Asp81fs) rs1741183871
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2479del (p.Arg827fs) rs1744695193
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
NM_133433.4(NIPBL):c.2602C>A (p.Arg868=) rs398124466
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) rs775238155
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
NM_133433.4(NIPBL):c.2802C>T (p.His934=) rs748966128
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs) rs2149646411
NM_133433.4(NIPBL):c.2868T>C (p.Phe956=) rs760895817
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs) rs2149646812
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) rs2149646884
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) rs2149646890
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs) rs1741192008
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter) rs2149647035
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
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.3124A>G (p.Ser1042Gly)
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs) rs2149662539
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) rs1554019698
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs) rs1580425629
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3305-17T>C
NM_133433.4(NIPBL):c.3305-18A>G
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly) rs2149668934
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu) rs1242572717
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) rs140344071
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly) rs2149669051
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) rs2149669144
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) rs1746665222
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter) rs1580436698
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
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.3516G>T (p.Met1172Ile) rs1746709380
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) rs892589257
NM_133433.4(NIPBL):c.3574+12_3574+16del
NM_133433.4(NIPBL):c.3575-19A>G
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.3575-3_3575-2insG
NM_133433.4(NIPBL):c.3575-9C>T
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
NM_133433.4(NIPBL):c.3664+11C>T
NM_133433.4(NIPBL):c.3664+19A>G
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.3664+8C>T
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
NM_133433.4(NIPBL):c.3708T>A (p.His1236Gln) rs1580442766
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) rs2149607039
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs) rs1746965734
NM_133433.4(NIPBL):c.3768+15T>C
NM_133433.4(NIPBL):c.3769-8T>A
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.3786T>C (p.Thr1262=)
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
NM_133433.4(NIPBL):c.3855+1G>A rs587783933
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
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.385T>C (p.Ser129Pro)
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys) rs1741620942
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) rs1580451470
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) rs1580451626
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys) rs1747444771
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter) rs1561145912
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
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.4100G>C (p.Ser1367Thr)
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) rs2149677952
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
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.4226_4227del (p.Thr1409fs)
NM_133433.4(NIPBL):c.4239+7T>C
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
NM_133433.4(NIPBL):c.4320+5G>A
NM_133433.4(NIPBL):c.4321-6A>G
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter) rs767317539
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.4422-12del rs797045759
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs) rs2149607105
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs) rs2149681441
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) rs2149681475
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter) rs751902505
NM_133433.4(NIPBL):c.4560+19G>A
NM_133433.4(NIPBL):c.4560+19G>T
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
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+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.4593T>A (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
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.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.4643+1G>A rs587783954
NM_133433.4(NIPBL):c.4644-16A>G
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser) rs1447713911
NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer) rs2149690678
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
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.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) rs1749083607
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu) rs772077115
NM_133433.4(NIPBL):c.4920+5T>G
NM_133433.4(NIPBL):c.4921-12T>C
NM_133433.4(NIPBL):c.4921-4A>G
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
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.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5011-8C>T
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5226-11T>C
NM_133433.4(NIPBL):c.5226-3C>T
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5269del (p.Val1757fs) rs2149696978
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.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) rs587783973
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.5429T>C (p.Leu1810Pro)
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp) rs1749739420
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
NM_133433.4(NIPBL):c.5574+11C>A
NM_133433.4(NIPBL):c.5574+5G>T
NM_133433.4(NIPBL):c.5574+7T>G
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) rs1750049593
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
NM_133433.4(NIPBL):c.5709+4G>C
NM_133433.4(NIPBL):c.5710-13C>G
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) rs2149704475
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser) rs2149704501
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) rs1750256312
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.5808+20G>C
NM_133433.4(NIPBL):c.5808+2T>C rs794727556
NM_133433.4(NIPBL):c.5808+6_5808+8del
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.586A>T (p.Thr196Ser)
NM_133433.4(NIPBL):c.5972-14G>C
NM_133433.4(NIPBL):c.5972-16_5972-15del
NM_133433.4(NIPBL):c.5972-1G>C
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=) rs2149721385
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
NM_133433.4(NIPBL):c.6069T>C (p.His2023=) rs1561196903
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=) rs745516748
NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs) rs2149721484
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) rs1554030285
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
NM_133433.4(NIPBL):c.6108+13C>T
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) rs2149607994
NM_133433.4(NIPBL):c.611-14_611-12del
NM_133433.4(NIPBL):c.611-3C>T
NM_133433.4(NIPBL):c.611-8A>G
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=) rs1579556694
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) rs587783999
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
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.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.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6249+5G>A
NM_133433.4(NIPBL):c.6250-11A>G
NM_133433.4(NIPBL):c.6250-13C>T
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
NM_133433.4(NIPBL):c.6343+4A>T rs1344872907
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter) rs2149732594
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.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+2_64+134del rs1740652803
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.6450A>G (p.Leu2150=)
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.65-20T>G
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
NM_133433.4(NIPBL):c.6589+13T>C
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6590-12C>T
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr) rs1753199066
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
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.6763+1G>A rs1753212131
NM_133433.4(NIPBL):c.6763+20T>C
NM_133433.4(NIPBL):c.6764-10G>A
NM_133433.4(NIPBL):c.6764-6T>C
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) rs2149737924
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
NM_133433.4(NIPBL):c.6919T>C (p.Leu2307=) rs1579572689
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
NM_133433.4(NIPBL):c.6945T>C (p.His2315=) rs1579572757
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.6955-8dup rs1482921708
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.6955-9dup
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) rs1561214997
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs) rs2149741562
NM_133433.4(NIPBL):c.7062+7_7062+8del
NM_133433.4(NIPBL):c.7063-11A>C
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
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.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro) rs765741574
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=) rs1579583689
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7264-19T>C
NM_133433.4(NIPBL):c.7264-7T>C
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) rs2149750216
NM_133433.4(NIPBL):c.7410+10A>C rs1579599980
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=) rs1579605088
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) rs759115050
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=) rs1754384795
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly) rs756187678
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
NM_133433.4(NIPBL):c.7685+19T>G
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) rs1554035266
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771+20T>G
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
NM_133433.4(NIPBL):c.772-12C>T
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs) rs1754594011
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) rs2149755591
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) rs2149755630
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs) rs1754603855
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer) rs2149755687
NM_133433.4(NIPBL):c.7861-9T>G
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val) rs1248025959
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs) rs1755082448
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
NM_133433.4(NIPBL):c.8049+1G>A
NM_133433.4(NIPBL):c.8049+6G>A
NM_133433.4(NIPBL):c.8049+7C>T
NM_133433.4(NIPBL):c.8050-15del
NM_133433.4(NIPBL):c.8050-8T>C
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
NM_133433.4(NIPBL):c.8148A>G (p.Pro2716=) rs1579633711
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer) rs1755224830
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) rs997526101
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
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+4C>G
NM_133433.4(NIPBL):c.868+4C>T
NM_133433.4(NIPBL):c.868+8T>A
NM_133433.4(NIPBL):c.869-15G>A
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
NM_133433.4(NIPBL):c.99T>C (p.Pro33=)

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