ClinVar Miner

List of variants in gene NIPBL studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1544
Download table as spreadsheet
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 0.00825
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.3897T>C (p.Leu1299=) rs80358354 0.00267
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_133433.4(NIPBL):c.3502+17A>C rs144725401 0.00213
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00183
NM_133433.4(NIPBL):c.65-17G>C rs201348552 0.00178
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00134
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00093
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00089
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00071
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00060
NM_133433.4(NIPBL):c.-243A>C rs544681871 0.00057
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.5709+4G>A rs370325589 0.00047
NM_133433.4(NIPBL):c.7685+19T>G rs117315150 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00042
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr) rs138514909 0.00041
NM_133433.4(NIPBL):c.*334G>A rs181989563 0.00037
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.961A>C (p.Arg321=) rs138720101 0.00034
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
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.4921-12T>C rs540078271 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.6590-12C>T rs201847656 0.00022
NM_133433.4(NIPBL):c.869-16C>T rs3736396 0.00022
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln) rs138828510 0.00021
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val) rs138210440 0.00020
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.1210C>T (p.Pro404Ser) rs560785308 0.00015
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00015
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.5226-11T>C rs375923130 0.00014
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=) rs371380435 0.00014
NM_133433.4(NIPBL):c.-307C>T rs377354585 0.00013
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.-265A>G rs879291582 0.00012
NM_133433.4(NIPBL):c.3574+20A>C rs530238141 0.00012
NM_133433.4(NIPBL):c.483C>T (p.Ser161=) rs536895037 0.00012
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly) rs200774440 0.00011
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.3369A>C (p.Arg1123Ser) rs140344071 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.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.7418T>C (p.Val2473Ala) rs185745349 0.00009
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=) rs146209296 0.00009
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485 0.00008
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00008
NM_133433.4(NIPBL):c.5710-13C>T rs562131143 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.1708A>G (p.Ile570Val) rs999526286 0.00007
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.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.5944A>C (p.Ile1982Leu) rs370593530 0.00007
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr) rs368151265 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.*551G>C rs760747084 0.00005
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.1927A>G (p.Lys643Glu) rs900302837 0.00005
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro) rs542244170 0.00005
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00005
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile) rs779888500 0.00005
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys) rs1443645418 0.00005
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112 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.5525G>A (p.Arg1842Gln) rs148446678 0.00005
NM_133433.4(NIPBL):c.5574+7T>G rs200982549 0.00005
NM_133433.4(NIPBL):c.5808+20G>C rs201613717 0.00005
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu) rs576532771 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.7793G>A (p.Arg2598Gln) rs199508078 0.00005
NM_133433.4(NIPBL):c.*545A>G rs886060566 0.00004
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.1669A>G (p.Ile557Val) rs201051655 0.00004
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly) rs539552810 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr) rs887065403 0.00004
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val) rs768620796 0.00004
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg) rs749213303 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.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.3503-7G>A rs747762848 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.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.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.6763+20T>C rs538756143 0.00004
NM_133433.4(NIPBL):c.948A>G (p.Leu316=) rs201213428 0.00004
NM_133433.4(NIPBL):c.*32A>T rs758539444 0.00003
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr) rs747144008 0.00003
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His) rs372266009 0.00003
NM_133433.4(NIPBL):c.1629T>C (p.Ile543=) rs778086908 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln) rs983077914 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.2374C>T (p.Arg792Trp) rs766108812 0.00003
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) rs201163469 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.3049A>C (p.Ile1017Leu) rs146714879 0.00003
NM_133433.4(NIPBL):c.3295G>A (p.Ala1099Thr) rs752294556 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.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=) rs767311814 0.00003
NM_133433.4(NIPBL):c.458+18C>T rs759013143 0.00003
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 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.689A>G (p.Asn230Ser) rs369282785 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.8139T>C (p.Ile2713=) rs1187325987 0.00003
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala) rs766956935 0.00003
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr) rs1029099152 0.00003
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00003
NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp) rs1359332855 0.00003
NM_133433.4(NIPBL):c.-338C>T rs886060556 0.00002
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.1920A>G (p.Leu640=) rs530214717 0.00002
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu) rs558749457 0.00002
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=) rs1342549115 0.00002
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser) rs369249480 0.00002
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 0.00002
NM_133433.4(NIPBL):c.2548A>G (p.Ser850Gly) rs975779242 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.2926A>G (p.Met976Val) rs749926228 0.00002
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 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.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4421+20G>T rs757831744 0.00002
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu) rs377716907 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.4986C>T (p.Asn1662=) rs754312670 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.5772A>C (p.Glu1924Asp) rs771252680 0.00002
NM_133433.4(NIPBL):c.611-10T>C rs368836554 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.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser) rs375928290 0.00002
NM_133433.4(NIPBL):c.7765C>T (p.His2589Tyr) rs1423499316 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.893A>T (p.Gln298Leu) rs756882182 0.00002
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln) rs988018153 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.1058A>G (p.Lys353Arg) rs1743395526 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.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.1262C>T (p.Ser421Leu) rs758313905 0.00001
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile) rs759134070 0.00001
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln) rs1290230112 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.1456A>G (p.Ile486Val) rs886044139 0.00001
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His) rs1743454770 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.1593G>A (p.Thr531=) rs760769176 0.00001
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=) rs1193409074 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg) rs763163376 0.00001
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp) rs1419019439 0.00001
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr) rs751966925 0.00001
NM_133433.4(NIPBL):c.1893G>A (p.Val631=) rs764259165 0.00001
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val) rs925563626 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.2087C>T (p.Thr696Ile) rs763785383 0.00001
NM_133433.4(NIPBL):c.2092T>C (p.Ser698Pro) rs550141620 0.00001
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp) rs774516564 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.2323A>G (p.Lys775Glu) rs935425802 0.00001
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=) rs1242189905 0.00001
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala) rs1040265113 0.00001
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp) rs746297367 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln) rs150498581 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.2592T>A (p.Asp864Glu) rs80358365 0.00001
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=) rs200496609 0.00001
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys) rs769488387 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.2754C>T (p.Asp918=) rs780317958 0.00001
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961 0.00001
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser) rs778661285 0.00001
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe) rs949537429 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.3124A>G (p.Ser1042Gly) rs746847096 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala) rs1746075684 0.00001
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920 0.00001
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr) rs534319970 0.00001
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu) rs1242572717 0.00001
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr) rs368022392 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=) rs777976223 0.00001
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn) rs1284341563 0.00001
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689 0.00001
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=) rs1419197381 0.00001
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380 0.00001
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg) rs772932503 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.3668A>G (p.Asp1223Gly) rs775247210 0.00001
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro) rs141976717 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.3937A>G (p.Thr1313Ala) rs769095978 0.00001
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly) rs758194241 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.4225A>G (p.Thr1409Ala) rs1260002719 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.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 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.461G>A (p.Arg154Gln) rs200692598 0.00001
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser) rs150683463 0.00001
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr) rs749218502 0.00001
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.4921-4A>G rs368263380 0.00001
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys) rs1355970346 0.00001
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile) rs916625417 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.5027A>G (p.Tyr1676Cys) rs559139612 0.00001
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln) rs1250912763 0.00001
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=) rs765047071 0.00001
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) rs775077572 0.00001
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr) rs750570299 0.00001
NM_133433.4(NIPBL):c.5118T>C (p.His1706=) rs780337526 0.00001
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala) rs749567855 0.00001
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly) rs772765625 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.5641A>G (p.Thr1881Ala) rs376084993 0.00001
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala) rs199639172 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.5A>G (p.Asn2Ser) rs1458071910 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.616G>A (p.Val206Ile) rs772863009 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.6249+17C>T rs1004419718 0.00001
NM_133433.4(NIPBL):c.6250-13C>T rs770140635 0.00001
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser) rs374645420 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.6577A>G (p.Ile2193Val) rs1368217611 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.6840G>A (p.Gln2280=) rs1403442187 0.00001
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=) rs372139946 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.6993A>G (p.Glu2331=) rs587784028 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.7118C>T (p.Thr2373Ile) rs373666652 0.00001
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser) rs766934075 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.7454G>C (p.Ser2485Thr) rs377715840 0.00001
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp) rs756243240 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu) rs769223635 0.00001
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln) rs775181656 0.00001
NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His) rs761787560 0.00001
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn) rs189670249 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.771+20T>G rs373739863 0.00001
NM_133433.4(NIPBL):c.771C>T (p.Asp257=) rs771594948 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.7745G>A (p.Arg2582Gln) rs1561227446 0.00001
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg) rs759578329 0.00001
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=) rs758683339 0.00001
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro) rs1189395668 0.00001
NM_133433.4(NIPBL):c.790A>G (p.Met264Val) rs781159621 0.00001
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=) rs774414570 0.00001
NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) rs766898203 0.00001
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=) rs763443745 0.00001
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu) rs1221501341 0.00001
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile) rs1306011126 0.00001
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val) rs759899081 0.00001
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr) rs754508684 0.00001
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) rs997526101 0.00001
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val) rs755928572 0.00001
NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly) rs1419053503 0.00001
NM_133433.4(NIPBL):c.971A>T (p.Lys324Met) rs1235334324 0.00001
GRCh38/hg38 5p13.2(chr5:37032545-37037174)x1
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.(?_36992705)_(37000570_?)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
NIPBL, IVS44DS, A-G, +4
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
NM_133433.4(NIPBL):c.*142G>C rs886060562
NM_133433.4(NIPBL):c.*265_*266del rs886060563
NM_133433.4(NIPBL):c.*282_*285del rs535770794
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.*84dup rs587783876
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-315del rs2478493369
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
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.-429del rs376839773
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.-80+11G>C rs1257470313
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs) rs1743386760
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala) rs2479123890
NM_133433.4(NIPBL):c.1003del (p.Glu335fs) rs587783877
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly) rs1743388549
NM_133433.4(NIPBL):c.1025del (p.Ala342fs)
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile) rs1361911394
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs) rs587783878
NM_133433.4(NIPBL):c.1036G>T (p.Asp346Tyr)
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala) rs763015442
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter) rs587783879
NM_133433.4(NIPBL):c.1075dup (p.Thr359fs) rs2479124645
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs) rs587783880
NM_133433.4(NIPBL):c.10dup (p.Asp4fs) rs2149597479
NM_133433.4(NIPBL):c.1103C>T (p.Ser368Leu)
NM_133433.4(NIPBL):c.1128_1130dup (p.Met376_Ile377insMet)
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val) rs368272080
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter) rs797045745
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys) rs1743404672
NM_133433.4(NIPBL):c.1168A>T (p.Ile390Phe)
NM_133433.4(NIPBL):c.117C>T (p.Ser39=)
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) rs587783882
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu) rs2479125893
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu) rs531372615
NM_133433.4(NIPBL):c.1207A>G (p.Thr403Ala)
NM_133433.4(NIPBL):c.1211C>T (p.Pro404Leu)
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.123del (p.Phe42fs)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1253A>C (p.Gln418Pro)
NM_133433.4(NIPBL):c.1253_1254insTGA (p.Gln418delinsHisGlu)
NM_133433.4(NIPBL):c.1259T>C (p.Leu420Ser) rs1284582406
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg) rs751637394
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
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.1285C>G (p.Leu429Val) rs1743429461
NM_133433.4(NIPBL):c.128A>G (p.Asn43Ser)
NM_133433.4(NIPBL):c.1290_1291delinsCC (p.Ala431Pro)
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) rs587783883
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.1320del (p.Asn440fs) rs1580373035
NM_133433.4(NIPBL):c.132A>G (p.Ala44=) rs2478986791
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter) rs770354010
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1348A>G (p.Thr450Ala)
NM_133433.4(NIPBL):c.1362G>T (p.Gln454His)
NM_133433.4(NIPBL):c.1370A>G (p.Gln457Arg)
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter) rs587783884
NM_133433.4(NIPBL):c.1394T>C (p.Ile465Thr)
NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val) rs2479130000
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=) rs2479130247
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly) rs1554015303
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.1445_1448del (p.Arg482fs) rs80358382
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) rs80358382
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs) rs797045746
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) rs1561102868
NM_133433.4(NIPBL):c.1458dup (p.Glu487Ter) rs2149628965
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter) rs587783886
NM_133433.4(NIPBL):c.1468C>T (p.Arg490Cys)
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1495+11C>G rs749655381
NM_133433.4(NIPBL):c.1495+18_1495+20del
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn) rs2479131200
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His) rs2479131200
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.149T>G (p.Val50Gly)
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) rs34314728
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) rs587783888
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter) rs2477917148
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter) rs775080703
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=) rs2477917598
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) rs587783889
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=) rs2149643066
NM_133433.4(NIPBL):c.1586G>A (p.Gly529Asp)
NM_133433.4(NIPBL):c.1590T>C (p.Ser530=)
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter) rs1740842785
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr) rs2478987011
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly) rs2149643225
NM_133433.4(NIPBL):c.164C>T (p.Ala55Val)
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.166T>C (p.Cys56Arg)
NM_133433.4(NIPBL):c.1672del (p.Thr558fs) rs2149643317
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His) rs2477919385
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr) rs2477919385
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=) rs1182594394
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val) rs1267072334
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1706A>G (p.Glu569Gly)
NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs) rs2477919768
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr) rs2477919803
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) rs1744567400
NM_133433.4(NIPBL):c.1735T>A (p.Ser579Thr)
NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA (p.Asp584delinsGluTrpThrLeuArgLeuLeuTer) rs2149643267
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del) rs776403850
NM_133433.4(NIPBL):c.1753del (p.Ile585fs) rs587783891
NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer) rs2149643596
NM_133433.4(NIPBL):c.1806A>G (p.Lys602=)
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser) rs147532293
NM_133433.4(NIPBL):c.1827A>C (p.Ser609=)
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) rs2149643696
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn) rs761864879
NM_133433.4(NIPBL):c.1832G>T (p.Ser611Ile)
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) rs2478987184
NM_133433.4(NIPBL):c.1857A>G (p.Arg619=)
NM_133433.4(NIPBL):c.1859T>G (p.Leu620Ter)
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del) rs1744593152
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter) rs1740845459
NM_133433.4(NIPBL):c.1891G>C (p.Val631Leu)
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) rs1744597297
NM_133433.4(NIPBL):c.192del (p.Gln64fs) rs80358364
NM_133433.4(NIPBL):c.1937C>A (p.Thr646Asn)
NM_133433.4(NIPBL):c.1942del (p.Thr648fs) rs2149644023
NM_133433.4(NIPBL):c.1945G>A (p.Glu649Lys)
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) rs2149644038
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro) rs2478987276
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg) rs2478987276
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
NM_133433.4(NIPBL):c.1991A>T (p.Asn664Ile)
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs) rs797045748
NM_133433.4(NIPBL):c.1993G>A (p.Glu665Lys)
NM_133433.4(NIPBL):c.19del (p.His7fs) rs2478976928
NM_133433.4(NIPBL):c.2004A>C (p.Ile668=)
NM_133433.4(NIPBL):c.2006T>A (p.Val669Asp)
NM_133433.4(NIPBL):c.200A>G (p.His67Arg) rs1388552505
NM_133433.4(NIPBL):c.2011C>A (p.Pro671Thr)
NM_133433.4(NIPBL):c.2013T>G (p.Pro671=)
NM_133433.4(NIPBL):c.201T>C (p.His67=)
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.4(NIPBL):c.2020A>C (p.Asn674His)
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=) rs1341978285
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr) rs762097133
NM_133433.4(NIPBL):c.2036C>T (p.Ser679Phe)
NM_133433.4(NIPBL):c.2046del (p.Lys682fs) rs587783894
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=) rs1744622283
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser) rs1191498766
NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter) rs1411864734
NM_133433.4(NIPBL):c.2078C>T (p.Ser693Leu)
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) rs587783896
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer) rs2477925829
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.2107C>T (p.Pro703Ser)
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys) rs756859262
NM_133433.4(NIPBL):c.2120del (p.Gly707fs) rs1580396071
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs) rs1744639200
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs) rs797045749
NM_133433.4(NIPBL):c.2148A>G (p.Gln716=)
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) rs727503766
NM_133433.4(NIPBL):c.2160G>A (p.Gly720=)
NM_133433.4(NIPBL):c.2164C>A (p.Pro722Thr)
NM_133433.4(NIPBL):c.2164C>T (p.Pro722Ser)
NM_133433.4(NIPBL):c.2207del (p.Pro736fs) rs2149644816
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys) rs1218778836
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.2246A>G (p.Gln749Arg)
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) rs587783899
NM_133433.4(NIPBL):c.2261G>A (p.Arg754Gln)
NM_133433.4(NIPBL):c.226del (p.His76fs) rs1580323151
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr) rs1466832100
NM_133433.4(NIPBL):c.2291del (p.Asn764fs) rs1580396767
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser) rs2477929594
NM_133433.4(NIPBL):c.230+18T>C rs775446742
NM_133433.4(NIPBL):c.230+5G>A rs1580323183
NM_133433.4(NIPBL):c.231-20A>G
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala) rs868508212
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln) rs1744671339
NM_133433.4(NIPBL):c.2334A>C (p.Glu778Asp)
NM_133433.4(NIPBL):c.2349_2352del (p.Gln784fs)
NM_133433.4(NIPBL):c.2375G>C (p.Arg792Pro) rs376912534
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) rs376912534
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro) rs2477930819
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter) rs797045750
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg) rs1744681690
NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs) rs1744682329
NM_133433.4(NIPBL):c.241del (p.Asp81fs) rs1741183871
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) rs587783902
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe) rs1219382813
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr) rs2477931357
NM_133433.4(NIPBL):c.2456A>G (p.Asp819Gly)
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del) rs769307619
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2464del (p.Gln822fs) rs797045751
NM_133433.4(NIPBL):c.2468A>G (p.Lys823Arg)
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
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) rs372453541
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter) rs587783905
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter) rs587783906
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter) rs2477932831
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=) rs746173840
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter) rs797045752
NM_133433.4(NIPBL):c.2556T>G (p.Asn852Lys)
NM_133433.4(NIPBL):c.2573C>T (p.Ser858Phe)
NM_133433.4(NIPBL):c.2576A>T (p.Asp859Val)
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2612G>A (p.Arg871Lys)
NM_133433.4(NIPBL):c.2623G>A (p.Gly875Arg)
NM_133433.4(NIPBL):c.2655A>G (p.Glu885=)
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) rs775238155
NM_133433.4(NIPBL):c.2681G>C (p.Arg894Pro)
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr) rs2477936578
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs) rs2477936695
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=) rs1256938703
NM_133433.4(NIPBL):c.2711del (p.Arg904fs) rs587783909
NM_133433.4(NIPBL):c.272_280del (p.Asp91_Pro93del) rs2479004072
NM_133433.4(NIPBL):c.2737C>T (p.Pro913Ser)
NM_133433.4(NIPBL):c.2739A>G (p.Pro913=)
NM_133433.4(NIPBL):c.2743A>C (p.Ser915Arg)
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu) rs2477937562
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=) rs2477937607
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs) rs587783910
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn) rs1247044982
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs) rs2477938100
NM_133433.4(NIPBL):c.2794A>G (p.Lys932Glu)
NM_133433.4(NIPBL):c.2798C>T (p.Ala933Val)
NM_133433.4(NIPBL):c.2810A>G (p.Asn937Ser)
NM_133433.4(NIPBL):c.2813A>G (p.Lys938Arg)
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr) rs2477938891
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter) rs587783911
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs) rs2149646411
NM_133433.4(NIPBL):c.2839G>T (p.Gly947Trp)
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del) rs1369177636
NM_133433.4(NIPBL):c.2855C>T (p.Ala952Val)
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) rs1744758389
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs) rs797045753
NM_133433.4(NIPBL):c.2871C>T (p.Val957=) rs2477939747
NM_133433.4(NIPBL):c.2888G>T (p.Arg963Met)
NM_133433.4(NIPBL):c.2903del (p.Asn968fs) rs587783912
NM_133433.4(NIPBL):c.2914G>A (p.Glu972Lys)
NM_133433.4(NIPBL):c.2927T>C (p.Met976Thr)
NM_133433.4(NIPBL):c.2946G>A (p.Pro982=)
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs) rs797045754
NM_133433.4(NIPBL):c.2968G>A (p.Gly990Arg)
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala) rs1744773360
NM_133433.4(NIPBL):c.297C>T (p.Val99=) rs749086242
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr) rs760771193
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs) rs2149646812
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3002C>T (p.Pro1001Leu)
NM_133433.4(NIPBL):c.3021A>G (p.Lys1007=)
NM_133433.4(NIPBL):c.3028T>A (p.Leu1010Met)
NM_133433.4(NIPBL):c.302C>T (p.Ala101Val)
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs) rs2149602979
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) rs2149646884
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) rs2149646890
NM_133433.4(NIPBL):c.3042G>C (p.Gln1014His)
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3064G>A (p.Asp1022Asn)
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) rs755568891
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3104C>T (p.Pro1035Leu)
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter) rs1554017661
NM_133433.4(NIPBL):c.3108A>G (p.Ser1036=)
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) rs587783917
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.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser) rs2479004836
NM_133433.4(NIPBL):c.314dup (p.Asn105fs) rs797045755
NM_133433.4(NIPBL):c.3165C>T (p.Leu1055=)
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs) rs2149662539
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601
NM_133433.4(NIPBL):c.3241G>C (p.Glu1081Gln)
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=) rs2478032477
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs) rs797045756
NM_133433.4(NIPBL):c.3288TGA[1] (p.Asp1097del)
NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter) rs2479004915
NM_133433.4(NIPBL):c.3296C>A (p.Ala1099Asp) rs762670218
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val) rs762670218
NM_133433.4(NIPBL):c.3304+14A>C
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3305-13G>A
NM_133433.4(NIPBL):c.3305-17T>C rs2478076632
NM_133433.4(NIPBL):c.3305-18A>G rs748454721
NM_133433.4(NIPBL):c.3305-1G>T rs80358375
NM_133433.4(NIPBL):c.3306C>T (p.Ser1102=)
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=) rs1240297882
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) rs587783919
NM_133433.4(NIPBL):c.3347_3348insGCTTT (p.Tyr1117fs)
NM_133433.4(NIPBL):c.3367del (p.Arg1123fs)
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly) rs2149669051
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr) rs1292140302
NM_133433.4(NIPBL):c.3405T>C (p.His1135=) rs2478078415
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) rs2149669144
NM_133433.4(NIPBL):c.3411AAG[1] (p.Arg1139del)
NM_133433.4(NIPBL):c.3415A>T (p.Arg1139Trp)
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
NM_133433.4(NIPBL):c.3433C>T (p.Arg1145Cys)
NM_133433.4(NIPBL):c.3439C>G (p.Arg1147Gly)
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) rs866740147
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) rs1746665222
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter) rs1580436698
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu) rs1292447603
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) rs587783923
NM_133433.4(NIPBL):c.3477T>A (p.Tyr1159Ter)
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del) rs750517408
NM_133433.4(NIPBL):c.3482del (p.Pro1161fs) rs2478079570
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs) rs2478079621
NM_133433.4(NIPBL):c.3502+10del
NM_133433.4(NIPBL):c.3502+20G>A rs765270376
NM_133433.4(NIPBL):c.3502+8A>G
NM_133433.4(NIPBL):c.3503-12T>C rs2478084962
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.3512A>T (p.Lys1171Ile)
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) rs587783925
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) rs1275880743
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs) rs1746711848
NM_133433.4(NIPBL):c.3547dup (p.Ala1183fs) rs2478086177
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) rs892589257
NM_133433.4(NIPBL):c.3574+12_3574+16del rs1487150947
NM_133433.4(NIPBL):c.3575-2A>G rs2478088445
NM_133433.4(NIPBL):c.3575-3C>G rs587783926
NM_133433.4(NIPBL):c.3575-3_3575-2insG rs2478088435
NM_133433.4(NIPBL):c.3575-9C>T rs762888772
NM_133433.4(NIPBL):c.358+19G>C
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.358+5G>C rs587783928
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs) rs2478089251
NM_133433.4(NIPBL):c.3647T>C (p.Met1216Thr)
NM_133433.4(NIPBL):c.3648G>A (p.Met1216Ile)
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn) rs1228316255
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile) rs2478089431
NM_133433.4(NIPBL):c.3664+1G>A rs2478089661
NM_133433.4(NIPBL):c.3664+4A>G
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu) rs1746957973
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) rs1554020997
NM_133433.4(NIPBL):c.3705dup (p.His1236fs) rs2478106977
NM_133433.4(NIPBL):c.3706C>T (p.His1236Tyr)
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) rs2149607039
NM_133433.4(NIPBL):c.3743_3744del (p.Ile1248fs)
NM_133433.4(NIPBL):c.3757A>G (p.Ile1253Val)
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs) rs1746965734
NM_133433.4(NIPBL):c.3769-8T>A rs759822571
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe) rs753222256
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro) rs1181219284
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn) rs2149673199
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=) rs2478114988
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs) rs587783930
NM_133433.4(NIPBL):c.3796T>C (p.Leu1266=)
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=) rs1160043014
NM_133433.4(NIPBL):c.3844T>G (p.Leu1282Val)
NM_133433.4(NIPBL):c.3855+1G>A rs587783933
NM_133433.4(NIPBL):c.3855+1G>T rs587783933
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-10T>G rs2149676690
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.3856-15A>C
NM_133433.4(NIPBL):c.3856-23_3856-13del rs748846456
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.3863A>T (p.Asp1288Val)
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) rs587783934
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.3873A>G (p.Glu1291=) rs777857860
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3889A>G (p.Arg1297Gly)
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) rs1580451470
NM_133433.4(NIPBL):c.3902T>G (p.Met1301Arg)
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) rs1170839204
NM_133433.4(NIPBL):c.3923C>T (p.Ala1308Val) rs1170839204
NM_133433.4(NIPBL):c.3926A>T (p.Asp1309Val)
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) rs2149676816
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr) rs2149676839
NM_133433.4(NIPBL):c.3937A>C (p.Thr1313Pro) rs769095978
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3940A>G (p.Thr1314Ala)
NM_133433.4(NIPBL):c.3943A>G (p.Ile1315Val)
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) rs1580451626
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) rs1747443386
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=) rs2478147185
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.3990G>C (p.Glu1330Asp)
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile) rs587783937
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter) rs587783938
NM_133433.4(NIPBL):c.4052A>G (p.Gln1351Arg)
NM_133433.4(NIPBL):c.406A>C (p.Ser136Arg)
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) rs1741623090
NM_133433.4(NIPBL):c.4087+15_4087+20del rs890998022
NM_133433.4(NIPBL):c.4087+18C>G rs2478149007
NM_133433.4(NIPBL):c.4088-2A>T rs587783939
NM_133433.4(NIPBL):c.4088-6T>C rs2478156720
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) rs587783940
NM_133433.4(NIPBL):c.4100G>A (p.Ser1367Asn)
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr) rs2478156976
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) rs2149677952
NM_133433.4(NIPBL):c.412_413delinsCT (p.Ala138Leu)
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=) rs2478157588
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser) rs2478157946
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala) rs2478158115
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly) rs2478158145
NM_133433.4(NIPBL):c.4212A>G (p.Gln1404=)
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs) rs2478158664
NM_133433.4(NIPBL):c.4239+7T>C rs2478158871
NM_133433.4(NIPBL):c.4240-1G>C rs587783942
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val) rs2478165967
NM_133433.4(NIPBL):c.4260del (p.Pro1421fs)
NM_133433.4(NIPBL):c.4269dup (p.Val1424fs) rs2478166056
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs) rs587783944
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs) rs80358386
NM_133433.4(NIPBL):c.4320+1G>A rs587783945
NM_133433.4(NIPBL):c.4320+2dup rs797045758
NM_133433.4(NIPBL):c.4320+5G>A rs2478166905
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4321-6A>G rs1747724343
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.432A>C (p.Gln144His) rs2479027529
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter) rs767317539
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter) rs767317539
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.4421+4A>C
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.4422-8_4422-5del
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.4429AGT[1] (p.Ser1478del)
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.444A>G (p.Ser148=) rs2479027605
NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile) rs2478190071
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs) rs2149681441
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter) rs797045760
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) rs2149681475
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg) rs2478190544
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) rs80358369
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala) rs377211455
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=) rs1426453183
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val) rs1416720608
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs) rs797045761
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer) rs797045762
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del) rs1747946877
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) rs587783950
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter) rs751902505
NM_133433.4(NIPBL):c.4560+19G>T rs201403933
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
NM_133433.4(NIPBL):c.4560+4A>G rs2478191869
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=) rs2478191822
NM_133433.4(NIPBL):c.4561-4C>A
NM_133433.4(NIPBL):c.456del (p.Ser153fs) rs587783951
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter) rs2478250966
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) rs1351097452
NM_133433.4(NIPBL):c.458+1_458+2dup rs797045763
NM_133433.4(NIPBL):c.458+2T>G
NM_133433.4(NIPBL):c.458+9T>C rs1246476225
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs) rs797045764
NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs) rs2478251255
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=) rs1748727860
NM_133433.4(NIPBL):c.459-2A>G rs1561083229
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.4602T>C (p.Ala1534=) rs968768950
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val) rs1391864467
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln) rs2478251573
NM_133433.4(NIPBL):c.460C>A (p.Arg154=) rs139514413
NM_133433.4(NIPBL):c.462G>A (p.Arg154=) rs769203117
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs) rs587783953
NM_133433.4(NIPBL):c.4643+10A>G rs2149688689
NM_133433.4(NIPBL):c.4643+1G>A rs587783954
NM_133433.4(NIPBL):c.4643+1G>C rs587783954
NM_133433.4(NIPBL):c.4644-16A>G rs1156302790
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) rs587783955
NM_133433.4(NIPBL):c.466G>A (p.Val156Met)
NM_133433.4(NIPBL):c.466G>T (p.Val156Leu)
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.467T>C (p.Val156Ala)
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) rs587783957
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.4700A>G (p.Gln1567Arg)
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg) rs2478268444
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) rs77632238
NM_133433.4(NIPBL):c.4714A>T (p.Thr1572Ser)
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter) rs2478268894
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs) rs2478269274
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.4777-5T>C
NM_133433.4(NIPBL):c.4777-6A>G rs1580483669
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.4793A>G (p.Asn1598Ser)
NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile) rs763783306
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs) rs80358372
NM_133433.4(NIPBL):c.4815A>G (p.Leu1605=)
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs) rs587783959
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) rs1749083607
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala) rs2478279903
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu) rs772077115
NM_133433.4(NIPBL):c.4857G>A (p.Arg1619=)
NM_133433.4(NIPBL):c.4876A>G (p.Thr1626Ala)
NM_133433.4(NIPBL):c.4884A>C (p.Lys1628Asn)
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs) rs797045766
NM_133433.4(NIPBL):c.4920+13_4920+14del
NM_133433.4(NIPBL):c.4920+5T>G rs2478280886
NM_133433.4(NIPBL):c.4921-5T>A
NM_133433.4(NIPBL):c.4935A>C (p.Glu1645Asp)
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.4965_4972del (p.Asp1657fs) rs797045767
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer) rs797045768
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn) rs2478304597
NM_133433.4(NIPBL):c.5010+20T>C
NM_133433.4(NIPBL):c.5011-19C>G rs572959962
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys) rs935671276
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs) rs587783960
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=) rs2478315530
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly) rs797045769
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs) rs797045770
NM_133433.4(NIPBL):c.506A>G (p.Gln169Arg)
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs) rs2478316314
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala) rs2478316990
NM_133433.4(NIPBL):c.512A>G (p.Asn171Ser)
NM_133433.4(NIPBL):c.513T>C (p.Asn171=)
NM_133433.4(NIPBL):c.5150T>C (p.Met1717Thr)
NM_133433.4(NIPBL):c.5153A>G (p.His1718Arg)
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.5174del (p.Lys1725fs) rs587783961
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.5225+2T>G rs2478318371
NM_133433.4(NIPBL):c.5225+8C>A
NM_133433.4(NIPBL):c.5225_5225+6del rs2478318349
NM_133433.4(NIPBL):c.5226-18A>G
NM_133433.4(NIPBL):c.5226-3C>T rs2478320117
NM_133433.4(NIPBL):c.5227A>G (p.Met1743Val)
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp) rs773164199
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu) rs1224541280
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5269del (p.Val1757fs) rs2149696978
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter) rs587783965
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.5315T>C (p.Ile1772Thr)
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg) rs587783966
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.4(NIPBL):c.5328+1G>A rs587783967
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5329-1G>C rs587783969
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter) rs587783971
NM_133433.4(NIPBL):c.533del (p.Tyr178fs) rs2479033418
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter) rs587783972
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.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) rs587783973
NM_133433.4(NIPBL):c.5416A>G (p.Ile1806Val)
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.5427G>A (p.Arg1809=) rs2478338103
NM_133433.4(NIPBL):c.5428-2A>G rs587783974
NM_133433.4(NIPBL):c.5428-7T>C
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro) rs894117241
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.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5462T>C (p.Met1821Thr)
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn) rs587783976
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu) rs2478340497
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) rs750864821
NM_133433.4(NIPBL):c.546C>T (p.Ser182=) rs2479033622
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) rs62654864
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
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.5510G>T (p.Arg1837Leu)
NM_133433.4(NIPBL):c.551dup (p.Gly185fs) rs2479033684
NM_133433.4(NIPBL):c.5524C>T (p.Arg1842Ter)
NM_133433.4(NIPBL):c.5553T>C (p.Asp1851=)
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile) rs1554025796
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.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5575-8G>C
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs) rs797045771
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) rs1750049593
NM_133433.4(NIPBL):c.5623A>G (p.Ile1875Val)
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs) rs2149702380
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs) rs797045772
NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu) rs2149702419
NM_133433.4(NIPBL):c.5684G>C (p.Arg1895Thr)
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del) rs2478366575
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5709+20A>G
NM_133433.4(NIPBL):c.5709+2T>G rs587783980
NM_133433.4(NIPBL):c.5709+4G>C rs370325589
NM_133433.4(NIPBL):c.5710-13C>G rs562131143
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr) rs2479033909
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) rs2149704475
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs) rs797045773
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser) rs2149704501
NM_133433.4(NIPBL):c.5762A>T (p.Asn1921Ile) rs587783983
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) rs1750256312
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr) rs1750256945
NM_133433.4(NIPBL):c.5791T>G (p.Leu1931Val)
NM_133433.4(NIPBL):c.5795dup (p.Asn1932fs)
NM_133433.4(NIPBL):c.5797A>G (p.Ile1933Val)
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn) rs2478383077
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.5808+2T>C rs794727556
NM_133433.4(NIPBL):c.5808+5G>A rs2149704635
NM_133433.4(NIPBL):c.5808+6_5808+8del rs756996385
NM_133433.4(NIPBL):c.5809-18T>A rs2478395809
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=) rs2478395979
NM_133433.4(NIPBL):c.5815G>A (p.Ala1939Thr)
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) rs80358360
NM_133433.4(NIPBL):c.5862+10C>G
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.5862+3487C>T rs2149710327
NM_133433.4(NIPBL):c.5862C>T (p.Asn1954=)
NM_133433.4(NIPBL):c.5863-15T>A
NM_133433.4(NIPBL):c.5863-19_5863-2del rs753611931
NM_133433.4(NIPBL):c.5863-23T>G
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser) rs747476219
NM_133433.4(NIPBL):c.5915C>T (p.Thr1972Ile)
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.5936T>G (p.Val1979Gly) rs2149718188
NM_133433.4(NIPBL):c.5972-14G>C rs374831448
NM_133433.4(NIPBL):c.5972-16_5972-15del rs1327351282
NM_133433.4(NIPBL):c.5972-1G>C rs2478516683
NM_133433.4(NIPBL):c.5972-25_5972-13del
NM_133433.4(NIPBL):c.5982del (p.Asn1994fs) rs2149721379
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.6007G>T (p.Val2003Leu)
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter) rs2478517111
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs) rs2149721417
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.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu) rs762487890
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.6071C>A (p.Ala2024Glu) rs587783992
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.6084A>G (p.Gln2028=)
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) rs1554030285
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser) rs2478517899
NM_133433.4(NIPBL):c.610+1G>A rs587783993
NM_133433.4(NIPBL):c.6108+13C>T rs925045027
NM_133433.4(NIPBL):c.6108+1G>T rs587783994
NM_133433.4(NIPBL):c.6108+2T>C rs797045775
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.6108T>C (p.Ser2036=)
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) rs2149607994
NM_133433.4(NIPBL):c.611-14_611-12del rs2479088521
NM_133433.4(NIPBL):c.611-3C>T rs2479088670
NM_133433.4(NIPBL):c.6110C>T (p.Thr2037Met)
NM_133433.4(NIPBL):c.6140T>C (p.Val2047Ala)
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.6166C>A (p.Pro2056Thr) rs2149730828
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
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.6177G>T (p.Glu2059Asp)
NM_133433.4(NIPBL):c.6179A>G (p.His2060Arg)
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.6202A>C (p.Thr2068Pro) rs1270894276
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln) rs2478576911
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=) rs149769284
NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile) rs2478576960
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del) rs1554031820
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
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+18C>G rs1454110019
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6249+2dup rs797045776
NM_133433.4(NIPBL):c.6249+5G>A rs2478577140
NM_133433.4(NIPBL):c.6250-10T>C
NM_133433.4(NIPBL):c.6250-13C>G
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.4(NIPBL):c.6262T>G (p.Cys2088Gly)
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer) rs1554031864
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.4(NIPBL):c.6273T>G (p.Cys2091Trp)
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) rs1579557913
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg) rs2478579610
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs) rs587784005
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6333T>C (p.Asn2111=)
NM_133433.4(NIPBL):c.6343+15A>C
NM_133433.4(NIPBL):c.6343+17G>C
NM_133433.4(NIPBL):c.6343+4A>T rs1344872907
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6344-1G>A rs2478587495
NM_133433.4(NIPBL):c.6344-9_6344-4del
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter) rs2149732594
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) rs369295272
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.6389A>G (p.Asn2130Ser)
NM_133433.4(NIPBL):c.64+13A>G
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+3A>C rs587784010
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.6401_6404dup (p.Pro2138fs) rs1554032085
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe) rs2478588411
NM_133433.4(NIPBL):c.6439G>A (p.Val2147Ile)
NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly) rs2478588532
NM_133433.4(NIPBL):c.6448C>G (p.Leu2150Val)
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.6455G>T (p.Arg2152Leu)
NM_133433.4(NIPBL):c.6472C>G (p.Leu2158Val)
NM_133433.4(NIPBL):c.6498+4_6498+9del rs1167724948
NM_133433.4(NIPBL):c.64C>T (p.Leu22Phe)
NM_133433.4(NIPBL):c.65-20T>G rs562041950
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs) rs2478597345
NM_133433.4(NIPBL):c.6539T>G (p.Phe2180Cys)
NM_133433.4(NIPBL):c.654_657del (p.Ile218fs) rs2149619973
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter) rs587784013
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter) rs587784015
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser) rs1163409552
NM_133433.4(NIPBL):c.6589+13T>C rs1250325513
NM_133433.4(NIPBL):c.6589+18T>C
NM_133433.4(NIPBL):c.6589+4A>G
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6590-2A>C rs587784016
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu) rs587784017
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=) rs773628266
NM_133433.4(NIPBL):c.6617T>C (p.Leu2206Pro)
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr) rs1753199066
NM_133433.4(NIPBL):c.6625G>A (p.Glu2209Lys)
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del) rs587784019
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter) rs80358363
NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu) rs1554032789
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs) rs80358361
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer) rs587784021
NM_133433.4(NIPBL):c.6669G>T (p.Lys2223Asn)
NM_133433.4(NIPBL):c.6671A>G (p.Asn2224Ser)
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu) rs1294876675
NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu) rs2478617722
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu) rs2478617842
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) rs797045778
NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp) rs2478617885
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
NM_133433.4(NIPBL):c.670T>G (p.Ser224Ala)
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=) rs2478617995
NM_133433.4(NIPBL):c.671C>A (p.Ser224Tyr)
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) rs2149737108
NM_133433.4(NIPBL):c.6763+1G>A rs1753212131
NM_133433.4(NIPBL):c.6763+1_6763+2del rs2478618302
NM_133433.4(NIPBL):c.6763+5G>A rs2149737162
NM_133433.4(NIPBL):c.6764-10G>A rs2478623429
NM_133433.4(NIPBL):c.6765G>A (p.Trp2255Ter)
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.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs) rs797045780
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=) rs778420641
NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=) rs778420641
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=) rs1235145321
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg) rs2478624222
NM_133433.4(NIPBL):c.6853C>A (p.Gln2285Lys)
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro) rs2478624537
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp) rs2478624643
NM_133433.4(NIPBL):c.6880C>T (p.Gln2294Ter)
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly) rs1401102641
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly) rs80358376
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=) rs1321886642
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=) rs2478625186
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter) rs587784026
NM_133433.4(NIPBL):c.6954+13T>G rs2478625670
NM_133433.4(NIPBL):c.6954+18C>T rs1753280855
NM_133433.4(NIPBL):c.6954+1G>A rs587784027
NM_133433.4(NIPBL):c.6954+6C>T
NM_133433.4(NIPBL):c.6955-2A>C rs2149741447
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.6955-9dup rs757731487
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
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.6977T>G (p.Met2326Arg) rs2149741483
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) rs1561214997
NM_133433.4(NIPBL):c.7004G>A (p.Arg2335Gln)
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys) rs1342304512
NM_133433.4(NIPBL):c.700C>T (p.His234Tyr)
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs) rs587784029
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs) rs2149741562
NM_133433.4(NIPBL):c.7023A>G (p.Gln2341=)
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7038C>A (p.Asp2346Glu)
NM_133433.4(NIPBL):c.7049C>G (p.Ala2350Gly)
NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del) rs2478651474
NM_133433.4(NIPBL):c.7062+2T>C rs587784032
NM_133433.4(NIPBL):c.7062+7_7062+8del rs746185595
NM_133433.4(NIPBL):c.7063-11A>C rs144718523
NM_133433.4(NIPBL):c.7063-19A>T
NM_133433.4(NIPBL):c.7063-7A>T
NM_133433.4(NIPBL):c.7077T>C (p.Ala2359=)
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro) rs528591545
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter) rs587784033
NM_133433.4(NIPBL):c.7103A>G (p.Gln2368Arg)
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs) rs587784034
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile) rs1210670441
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg) rs587784035
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=) rs148375273
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) rs1057516034
NM_133433.4(NIPBL):c.7164T>A (p.Ser2388=)
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=) rs773405443
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val) rs2478658527
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs) rs587784037
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro) rs765741574
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His) rs2478658915
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.7227_7230del (p.Phe2409fs)
NM_133433.4(NIPBL):c.7263+1G>A rs2478659391
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7264-19T>C rs1236742558
NM_133433.4(NIPBL):c.7264-6T>G rs587784038
NM_133433.4(NIPBL):c.7264-7T>C rs775991611
NM_133433.4(NIPBL):c.7271A>G (p.Asp2424Gly)
NM_133433.4(NIPBL):c.7288T>C (p.Tyr2430His) rs1754192867
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7292_7293dup (p.Ala2432Ter)
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) rs2149750114
NM_133433.4(NIPBL):c.7323G>A (p.Gln2441=)
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.4(NIPBL):c.7337C>T (p.Pro2446Leu)
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val) rs1561222655
NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=) rs752547166
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) rs2149750216
NM_133433.4(NIPBL):c.7375G>C (p.Val2459Leu) rs2478700719
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val) rs1264310290
NM_133433.4(NIPBL):c.741C>T (p.Tyr247=)
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn) rs143420538
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=) rs1426672358
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu) rs2478715609
NM_133433.4(NIPBL):c.7456A>T (p.Lys2486Ter)
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7472G>A (p.Ser2491Asn)
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=) rs780356036
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del) rs765215110
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133433.4(NIPBL):c.7489G>A (p.Val2497Ile)
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) rs759115050
NM_133433.4(NIPBL):c.748A>T (p.Met250Leu)
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=) rs1754384795
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly) rs1754386332
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
NM_133433.4(NIPBL):c.753G>T (p.Val251=)
NM_133433.4(NIPBL):c.7543_7548del (p.Ser2515_Glu2516del)
NM_133433.4(NIPBL):c.7551C>T (p.Asp2517=)
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly) rs756187678
NM_133433.4(NIPBL):c.7553A>T (p.Asp2518Val) rs756187678
NM_133433.4(NIPBL):c.755A>G (p.His252Arg)
NM_133433.4(NIPBL):c.760C>T (p.Leu254=) rs2479089976
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His) rs778219424
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs) rs2478718213
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.7629T>G (p.Ile2543Met)
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter) rs2478718388
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.7639C>T (p.Leu2547Phe)
NM_133433.4(NIPBL):c.7655A>T (p.His2552Leu)
NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp) rs2149752967
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg) rs1216631170
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs) rs587784047
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) rs1554035266
NM_133433.4(NIPBL):c.771+13T>C
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771+20T>A
NM_133433.4(NIPBL):c.7716T>C (p.Ser2572=)
NM_133433.4(NIPBL):c.772-1G>A rs587784049
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7738A>G (p.Ile2580Val)
NM_133433.4(NIPBL):c.7744C>T (p.Arg2582Ter)
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs) rs1754594011
NM_133433.4(NIPBL):c.7768C>G (p.Pro2590Ala)
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=) rs1258848996
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter) rs80358371
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) rs2149755591
NM_133433.4(NIPBL):c.7812C>G (p.Ser2604=)
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs) rs797045783
NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter) rs2149755613
NM_133433.4(NIPBL):c.7828G>A (p.Val2610Met)
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) rs2149755630
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter) rs797045784
NM_133433.4(NIPBL):c.7841dup (p.Val2615fs)
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs) rs2478733662
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter) rs587784050
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs) rs1754603855
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter) rs2478733723
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer) rs2149755687
NM_133433.4(NIPBL):c.7861-19T>C
NM_133433.4(NIPBL):c.7861-1G>C rs1561231553
NM_133433.4(NIPBL):c.7861-9T>G rs777258869
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe) rs1030959034
NM_133433.4(NIPBL):c.7872C>G (p.Leu2624=)
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del) rs752183727
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) rs727503771
NM_133433.4(NIPBL):c.7906G>T (p.Glu2636Ter)
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs) rs797045785
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs) rs797045786
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val) rs1248025959
NM_133433.4(NIPBL):c.7936_7961del (p.Arg2646fs) rs2478758255
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs) rs2149621638
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs) rs2149759954
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=) rs1755081524
NM_133433.4(NIPBL):c.7956A>G (p.Ser2652=)
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs) rs1755082448
NM_133433.4(NIPBL):c.797_798dup (p.Ala267fs)
NM_133433.4(NIPBL):c.802G>A (p.Ala268Thr)
NM_133433.4(NIPBL):c.8030G>A (p.Arg2677Lys)
NM_133433.4(NIPBL):c.8049+1G>A rs2478759512
NM_133433.4(NIPBL):c.8049+6G>A rs2478759539
NM_133433.4(NIPBL):c.8050-15del rs747291753
NM_133433.4(NIPBL):c.8050-8T>C rs2478768382
NM_133433.4(NIPBL):c.8073T>A (p.Asn2691Lys)
NM_133433.4(NIPBL):c.807T>G (p.Ser269=) rs2479097805
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys) rs2478768777
NM_133433.4(NIPBL):c.8101A>G (p.Met2701Val) rs2478768967
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn) rs2478769067
NM_133433.4(NIPBL):c.8125G>T (p.Asp2709Tyr)
NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu) rs1742897027
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs) rs587784052
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=) rs1366850491
NM_133433.4(NIPBL):c.8263G>A (p.Asp2755Asn)
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) rs868294395
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs) rs797045787
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs) rs587784055
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=) rs2478771025
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly) rs2478771086
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del) rs2478771204
NM_133433.4(NIPBL):c.8299A>C (p.Lys2767Gln)
NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu) rs2149761150
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) rs587784056
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer) rs1755224830
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.4(NIPBL):c.8339del (p.Ser2780fs) rs2478771713
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs) rs797045789
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.8352_8355del (p.Thr2785fs)
NM_133433.4(NIPBL):c.835T>C (p.Cys279Arg)
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu) rs2149761269
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) rs1755229121
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp) rs1393288798
NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro) rs2149761303
NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs) rs2149761324
NM_133433.4(NIPBL):c.8409C>A (p.Ser2803=)
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg) rs2479098227
NM_133433.4(NIPBL):c.843T>C (p.Pro281=) rs1742903458
NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)
NM_133433.4(NIPBL):c.865A>G (p.Lys289Glu)
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>G rs751127087
NM_133433.4(NIPBL):c.868+4C>T rs751127087
NM_133433.4(NIPBL):c.868+8T>A rs2479098504
NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser) rs1554014382
NM_133433.4(NIPBL):c.868G>C (p.Gly290Arg)
NM_133433.4(NIPBL):c.869-1G>A rs587784059
NM_133433.4(NIPBL):c.869-1G>C rs587784059
NM_133433.4(NIPBL):c.869-640G>C rs2149626924
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.872C>T (p.Ser291Leu)
NM_133433.4(NIPBL):c.873A>C (p.Ser291=) rs1743370604
NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly) rs2479122663
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter) rs2479122663
NM_133433.4(NIPBL):c.879A>C (p.Pro293=)
NM_133433.4(NIPBL):c.879A>G (p.Pro293=) rs760114555
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val) rs1743372780
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter) rs587784062
NM_133433.4(NIPBL):c.892del (p.Gln298fs) rs587784063
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.89C>G (p.Ser30Cys)
NM_133433.4(NIPBL):c.904C>T (p.Leu302=) rs755928572
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) rs587784065
NM_133433.4(NIPBL):c.99T>C (p.Pro33=) rs1232312013
NM_133433.4(NIPBL):c.9G>T (p.Gly3=)
NM_133433.4:c.1480_2479del
t(2;5;6)(q32.3;p13.2;q12)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.