ClinVar Miner

List of variants in gene NBN studied for Microcephaly, normal intelligence and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 903
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HGVS dbSNP
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NC_000008.10:g.(?_90990438)_(90993131_?)del
NC_000008.10:g.(?_90990442)_(90993127_?)del
NC_000008.10:g.(?_90992962)_(90996899_?)del
NC_000008.10:g.(?_90993597)_(90996795_?)dup
NM_002485.4(NBN):c.(?_-1)_(*1_?)dup
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1005_1007AAC[1] (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1005_1007AAC[3] (p.Thr337dup) rs770500095
NM_002485.4(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.4(NBN):c.1010C>T (p.Thr337Ile) rs1335655343
NM_002485.4(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.4(NBN):c.101T>G (p.Leu34Arg) rs1012390181
NM_002485.4(NBN):c.1020A>G (p.Pro340=) rs864622077
NM_002485.4(NBN):c.1023C>G (p.Ser341Arg) rs756023239
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.1035C>A (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1036G>A (p.Val346Met) rs200297914
NM_002485.4(NBN):c.1036_1037GT[3] (p.Ser347fs) rs1554560432
NM_002485.4(NBN):c.1039T>C (p.Ser347Pro) rs1563539035
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.1056A>G (p.Leu352=) rs369092711
NM_002485.4(NBN):c.1057A>C (p.Met353Leu) rs864622489
NM_002485.4(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.4(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.4(NBN):c.1063A>G (p.Ser355Gly) rs762376159
NM_002485.4(NBN):c.1065C>T (p.Ser355=) rs876659205
NM_002485.4(NBN):c.1066G>A (p.Ala356Thr) rs777259845
NM_002485.4(NBN):c.1076A>G (p.Asn359Ser) rs768886664
NM_002485.4(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.4(NBN):c.1083A>G (p.Thr361=) rs761042468
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002485.4(NBN):c.1091T>C (p.Val364Ala) rs370229163
NM_002485.4(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.4(NBN):c.1100C>G (p.Thr367Arg)
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1118A>G (p.Asp373Gly) rs1563538492
NM_002485.4(NBN):c.1120A>G (p.Thr374Ala) rs1563538477
NM_002485.4(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.4(NBN):c.1122A>G (p.Thr374=) rs876660925
NM_002485.4(NBN):c.1124+1G>A rs1057517209
NM_002485.4(NBN):c.1124+2T>G rs1554560352
NM_002485.4(NBN):c.1124+37C>G rs577575764
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1124+7C>T rs1060504929
NM_002485.4(NBN):c.1124+9T>G rs864622466
NM_002485.4(NBN):c.1124G>C (p.Trp375Ser) rs1394437421
NM_002485.4(NBN):c.1125-1G>A rs1057517102
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.4(NBN):c.1129T>G (p.Leu377Val) rs587780547
NM_002485.4(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.1146A>C (p.Lys382Asn) rs1554559357
NM_002485.4(NBN):c.1147G>A (p.Glu383Lys) rs772909239
NM_002485.4(NBN):c.1153A>G (p.Lys385Glu) rs1563532612
NM_002485.4(NBN):c.1154A>G (p.Lys385Arg)
NM_002485.4(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.4(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.4(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.4(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.4(NBN):c.1162A>G (p.Lys388Glu) rs1252203605
NM_002485.4(NBN):c.1170A>G (p.Glu390=) rs1554559326
NM_002485.4(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.4(NBN):c.1172A>G (p.Gln391Arg) rs201958895
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.1180A>G (p.Arg394Gly) rs1060503470
NM_002485.4(NBN):c.1188T>C (p.Leu396=) rs1554559312
NM_002485.4(NBN):c.1193A>G (p.Gln398Arg) rs746965070
NM_002485.4(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.4(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.4(NBN):c.1197T>C (p.Asp399=) rs709816
NM_002485.4(NBN):c.1197_1198delinsCT (p.Ala400Ser) rs1064795318
NM_002485.4(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.4(NBN):c.1198G>C (p.Ala400Pro) rs551602980
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.1202C>A (p.Pro401His) rs104895033
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1204A>G (p.Thr402Ala) rs201373377
NM_002485.4(NBN):c.1205_1209del (p.Thr402fs) rs1563532144
NM_002485.4(NBN):c.120G>A (p.Ser40=) rs774989816
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1219T>A (p.Cys407Ser) rs1060503460
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.4(NBN):c.1229G>T (p.Ser410Ile)
NM_002485.4(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.4(NBN):c.1230C>T (p.Ser410=) rs878854504
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1235_1237ATA[2] (p.Asn414del) rs1563531915
NM_002485.4(NBN):c.1238A>G (p.Asn413Ser) rs529340553
NM_002485.4(NBN):c.123C>A (p.Ile41=) rs887413615
NM_002485.4(NBN):c.123del (p.Ser42fs) rs587781891
NM_002485.4(NBN):c.1241A>G (p.Asn414Ser) rs1554559235
NM_002485.4(NBN):c.1242T>C (p.Asn414=) rs864622135
NM_002485.4(NBN):c.1243_1244insTTA (p.Ser415_Met416insIle) rs587781532
NM_002485.4(NBN):c.1244G>A (p.Ser415Asn)
NM_002485.4(NBN):c.1247T>C (p.Met416Thr) rs863224713
NM_002485.4(NBN):c.1248G>T (p.Met416Ile) rs756572268
NM_002485.4(NBN):c.1250T>G (p.Val417Gly) rs1554559216
NM_002485.4(NBN):c.1251A>G (p.Val417=) rs749316300
NM_002485.4(NBN):c.1253C>A (p.Ser418Ter)
NM_002485.4(NBN):c.1253C>T (p.Ser418Leu) rs1554559212
NM_002485.4(NBN):c.1255A>C (p.Asn419His) rs730881849
NM_002485.4(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1273A>C (p.Arg425=) rs1554559177
NM_002485.4(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1280C>G (p.Pro427Arg)
NM_002485.4(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.4(NBN):c.1283A>T (p.Asn428Ile) rs1406123091
NM_002485.4(NBN):c.1286A>G (p.Tyr429Cys) rs370121348
NM_002485.4(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.4(NBN):c.1298C>G (p.Pro433Arg) rs1554559140
NM_002485.4(NBN):c.1299A>G (p.Pro433=) rs1161505808
NM_002485.4(NBN):c.1301C>A (p.Thr434Asn) rs757452107
NM_002485.4(NBN):c.1301C>G (p.Thr434Ser) rs757452107
NM_002485.4(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.4(NBN):c.1306T>C (p.Leu436=) rs375885975
NM_002485.4(NBN):c.1313G>A (p.Ser438Asn)
NM_002485.4(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.4(NBN):c.1314T>C (p.Ser438=) rs1057521491
NM_002485.4(NBN):c.1315A>G (p.Ile439Val) rs752837508
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1322A>C (p.Lys441Thr) rs1329281031
NM_002485.4(NBN):c.1322A>G (p.Lys441Arg) rs1329281031
NM_002485.4(NBN):c.1327A>G (p.Lys443Glu) rs1554559094
NM_002485.4(NBN):c.1327A>T (p.Lys443Ter)
NM_002485.4(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.4(NBN):c.1332dup (p.Arg445Ter)
NM_002485.4(NBN):c.1335G>C (p.Arg445Ser)
NM_002485.4(NBN):c.1336G>A (p.Ala446Thr)
NM_002485.4(NBN):c.1338T>C (p.Ala446=) rs1373132755
NM_002485.4(NBN):c.133C>G (p.His45Asp) rs773865323
NM_002485.4(NBN):c.1343A>T (p.Gln448Leu) rs146403088
NM_002485.4(NBN):c.1347G>A (p.Gln449=) rs761492204
NM_002485.4(NBN):c.1349A>G (p.Gln450Arg)
NM_002485.4(NBN):c.134A>G (p.His45Arg) rs1554569059
NM_002485.4(NBN):c.1353G>C (p.Gln451His)
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1359C>A (p.Asn453Lys)
NM_002485.4(NBN):c.1361C>A (p.Ser454Tyr) rs587780774
NM_002485.4(NBN):c.1362C>T (p.Ser454=) rs587780775
NM_002485.4(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.4(NBN):c.1373A>G (p.Tyr458Cys) rs544909538
NM_002485.4(NBN):c.1377dup (p.Gln460fs) rs1554559028
NM_002485.4(NBN):c.1381C>T (p.Pro461Ser) rs1554559015
NM_002485.4(NBN):c.1382C>T (p.Pro461Leu) rs367760321
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1385C>T (p.Ser462Phe) rs1563530730
NM_002485.4(NBN):c.1387A>G (p.Thr463Ala)
NM_002485.4(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1396delinsTTTT (p.Arg466delinsPheTrp)
NM_002485.4(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA rs876659666
NM_002485.4(NBN):c.1397+1delG rs1060503467
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.1397+3C>G rs876660481
NM_002485.4(NBN):c.1397+5G>C rs1060503489
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1398-10delT rs587780555
NM_002485.4(NBN):c.1398-18dup rs587780555
NM_002485.4(NBN):c.1398-7A>G rs1563527772
NM_002485.4(NBN):c.1398-9A>T rs773093849
NM_002485.4(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.4(NBN):c.139_140GT[1] (p.Leu48fs) rs750375741
NM_002485.4(NBN):c.1403G>A (p.Arg468Lys) rs781213350
NM_002485.4(NBN):c.1403G>C (p.Arg468Thr)
NM_002485.4(NBN):c.1404G>T (p.Arg468Ser) rs730881851
NM_002485.4(NBN):c.1405G>A (p.Asp469Asn) rs148205441
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1406A>G (p.Asp469Gly)
NM_002485.4(NBN):c.1409A>G (p.Glu470Gly) rs876660501
NM_002485.4(NBN):c.1412A>G (p.Glu471Gly) rs878854505
NM_002485.4(NBN):c.1415A>G (p.Asn472Ser) rs750711786
NM_002485.4(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.4(NBN):c.1419A>G (p.Gln473=) rs587780535
NM_002485.4(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.4(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.4(NBN):c.1425G>A (p.Met475Ile) rs1180796619
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1431A>G (p.Ser477=) rs759060729
NM_002485.4(NBN):c.1434C>T (p.Cys478=) rs1060503473
NM_002485.4(NBN):c.1443A>G (p.Ala481=) rs751121403
NM_002485.4(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.4(NBN):c.1445G>A (p.Arg482Lys) rs775451862
NM_002485.4(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.4(NBN):c.1448T>G (p.Ile483Arg)
NM_002485.4(NBN):c.1454C>T (p.Thr485Met) rs200891292
NM_002485.4(NBN):c.1455G>A (p.Thr485=) rs772864909
NM_002485.4(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.4(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1470A>C (p.Leu490Phe)
NM_002485.4(NBN):c.1471G>A (p.Glu491Lys) rs776900339
NM_002485.4(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1483C>T (p.Pro495Ser) rs747027298
NM_002485.4(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.4(NBN):c.1484C>G (p.Pro495Arg)
NM_002485.4(NBN):c.1484C>T (p.Pro495Leu) rs863224714
NM_002485.4(NBN):c.1487C>T (p.Ala496Val)
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.4(NBN):c.149C>T (p.Ala50Val) rs1554569035
NM_002485.4(NBN):c.14T>A (p.Leu5Gln)
NM_002485.4(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.4(NBN):c.1511A>G (p.Lys504Arg) rs757754183
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.1516C>G (p.Gln506Glu) rs876658535
NM_002485.4(NBN):c.1519C>T (p.His507Tyr) rs1554558456
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.1520_1523ATCT[1] (p.Ser509fs) rs1554558449
NM_002485.4(NBN):c.1521T>A (p.His507Gln)
NM_002485.4(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.4(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.4(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.4(NBN):c.1533T>G (p.Asn511Lys) rs587780776
NM_002485.4(NBN):c.1534G>C (p.Glu512Gln) rs1554558445
NM_002485.4(NBN):c.1538C>T (p.Pro513Leu) rs1554558440
NM_002485.4(NBN):c.1549A>G (p.Asn517Asp) rs1040315184
NM_002485.4(NBN):c.1553C>G (p.Ser518Ter) rs1060503480
NM_002485.4(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.4(NBN):c.1559A>G (p.Asn520Ser) rs750981708
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1570A>G (p.Thr524Ala) rs1292640945
NM_002485.4(NBN):c.1580A>T (p.Asp527Val) rs1554558407
NM_002485.4(NBN):c.1581T>G (p.Asp527Glu)
NM_002485.4(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.4(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.1594G>A (p.Val532Met) rs545435120
NM_002485.4(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.4(NBN):c.1616C>G (p.Ser539Cys)
NM_002485.4(NBN):c.1618C>T (p.His540Tyr) rs1554558393
NM_002485.4(NBN):c.1619A>G (p.His540Arg) rs730881852
NM_002485.4(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.4(NBN):c.1622C>T (p.Ala541Val)
NM_002485.4(NBN):c.1625C>T (p.Ala542Val)
NM_002485.4(NBN):c.1628A>C (p.Glu543Ala)
NM_002485.4(NBN):c.1637G>C (p.Arg546Thr) rs1360502904
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.4(NBN):c.1642A>C (p.Asn548His) rs772234785
NM_002485.4(NBN):c.1642A>G (p.Asn548Asp)
NM_002485.4(NBN):c.1647_1651del (p.Lys550fs) rs766044684
NM_002485.4(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.4(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.4(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.4(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.4(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.4(NBN):c.1657A>G (p.Met553Val) rs746347634
NM_002485.4(NBN):c.1657A>T (p.Met553Leu)
NM_002485.4(NBN):c.1659G>A (p.Met553Ile) rs876659960
NM_002485.4(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.4(NBN):c.1666G>T (p.Val556Leu) rs771567358
NM_002485.4(NBN):c.1667T>A (p.Val556Glu) rs558023830
NM_002485.4(NBN):c.1670C>G (p.Ala557Gly) rs1286743873
NM_002485.4(NBN):c.1670C>T (p.Ala557Val) rs1286743873
NM_002485.4(NBN):c.1672A>C (p.Ile558Leu) rs876659451
NM_002485.4(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.4(NBN):c.1675dup (p.Glu559fs) rs1563525678
NM_002485.4(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.4(NBN):c.1682A>C (p.Glu561Ala)
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.1685T>G (p.Val562Gly) rs1060503455
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.1691A>G (p.Glu564Gly) rs1554558323
NM_002485.4(NBN):c.1693C>T (p.Gln565Ter)
NM_002485.4(NBN):c.1697dup (p.Leu566fs)
NM_002485.4(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
NM_002485.4(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.4(NBN):c.1700T>G (p.Phe567Cys) rs980167139
NM_002485.4(NBN):c.1703A>G (p.Lys568Arg) rs1488036998
NM_002485.4(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.4(NBN):c.170T>C (p.Leu57Pro) rs747920256
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1711A>G (p.Lys571Glu) rs587780090
NM_002485.4(NBN):c.1714C>T (p.Pro572Ser) rs749918573
NM_002485.4(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.4(NBN):c.1716dup (p.Glu573fs) rs1060503483
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.172-529G>A rs104895039
NM_002485.4(NBN):c.172-8C>G
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr) rs587781881
NM_002485.4(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.4(NBN):c.1735A>G (p.Lys579Glu) rs993110145
NM_002485.4(NBN):c.1737del (p.Val580fs) rs1563525210
NM_002485.4(NBN):c.1738G>A (p.Val580Ile) rs878854506
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.1749_1751GGA[1] (p.Glu585del) rs1554558265
NM_002485.4(NBN):c.1750G>T (p.Glu584Ter) rs1554558270
NM_002485.4(NBN):c.1752G>C (p.Glu584Asp) rs1554558267
NM_002485.4(NBN):c.1754A>G (p.Glu585Gly) rs763926389
NM_002485.4(NBN):c.1759G>A (p.Val587Ile)
NM_002485.4(NBN):c.175C>T (p.Gln59Ter) rs1554568427
NM_002485.4(NBN):c.1761C>T (p.Val587=) rs769773789
NM_002485.4(NBN):c.1763A>G (p.Asn588Ser) rs876658681
NM_002485.4(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.4(NBN):c.1770A>T (p.Arg590Ser)
NM_002485.4(NBN):c.1774A>G (p.Arg592Gly) rs1554558245
NM_002485.4(NBN):c.1776G>T (p.Arg592Ser) rs1554558244
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1780del (p.Arg594fs)
NM_002485.4(NBN):c.1785G>A (p.Met595Ile)
NM_002485.4(NBN):c.1787_1788insC (p.Ile597fs)
NM_002485.4(NBN):c.1789A>G (p.Ile597Val) rs864622167
NM_002485.4(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.4(NBN):c.1795A>G (p.Thr599Ala) rs878854507
NM_002485.4(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.4(NBN):c.1796C>T (p.Thr599Ile)
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.4(NBN):c.1816G>A (p.Glu606Lys) rs774324419
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1821A>G (p.Ala607=) rs1554558213
NM_002485.4(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.4(NBN):c.1841T>C (p.Ile614Thr)
NM_002485.4(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.4(NBN):c.1843T>C (p.Ser615Pro) rs746632073
NM_002485.4(NBN):c.1845+2T>C
NM_002485.4(NBN):c.1845+2dup
NM_002485.4(NBN):c.1845+3A>G rs587780777
NM_002485.4(NBN):c.1845+5_1845+8delGTAA rs1563524615
NM_002485.4(NBN):c.1845+6T>C
NM_002485.4(NBN):c.1846-11_1846-7delTATTT rs1060504925
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1846-9T>C rs1554556966
NM_002485.4(NBN):c.1848A>G (p.Gln616=) rs587782269
NM_002485.4(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.4(NBN):c.1849G>C (p.Glu617Gln)
NM_002485.4(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.4(NBN):c.1860T>C (p.Ile620=) rs1060504927
NM_002485.4(NBN):c.1866G>C (p.Lys622Asn) rs587782221
NM_002485.4(NBN):c.186A>C (p.Glu62Asp)
NM_002485.4(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.4(NBN):c.1871G>A (p.Arg624His) rs587782297
NM_002485.4(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln) rs1554556932
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.1874A>G (p.Glu625Gly) rs1554556929
NM_002485.4(NBN):c.1877T>G (p.Leu626Arg) rs1237629649
NM_002485.4(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.4(NBN):c.1880A>T (p.Lys627Met) rs762174459
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.4(NBN):c.1885G>T (p.Asp629Tyr) rs745559078
NM_002485.4(NBN):c.1886A>C (p.Asp629Ala)
NM_002485.4(NBN):c.1888T>C (p.Ser630Pro) rs377132067
NM_002485.4(NBN):c.188T>A (p.Ile63Asn)
NM_002485.4(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.4(NBN):c.1890A>C (p.Ser630=) rs587780778
NM_002485.4(NBN):c.1893A>G (p.Leu631=) rs778364604
NM_002485.4(NBN):c.1896G>T (p.Trp632Cys)
NM_002485.4(NBN):c.1898C>T (p.Ser633Leu) rs1554556897
NM_002485.4(NBN):c.189C>A (p.Ile63=) rs1554568383
NM_002485.4(NBN):c.1900G>A (p.Ala634Thr) rs1554556892
NM_002485.4(NBN):c.1902T>C (p.Ala634=) rs876660052
NM_002485.4(NBN):c.1902T>G (p.Ala634=) rs876660052
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1908A>C (p.Glu636Asp) rs1563516272
NM_002485.4(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.4(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.4(NBN):c.1910T>A (p.Ile637Lys) rs876658613
NM_002485.4(NBN):c.1911_1914+1delATCTG rs1554556880
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1914+5G>A
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1915-10C>G
NM_002485.4(NBN):c.1915-5T>G rs1554556608
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.1915-8C>T rs368132097
NM_002485.4(NBN):c.1919A>G (p.Asn640Ser) rs748073091
NM_002485.4(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.4(NBN):c.1920T>C (p.Asn640=) rs1554556602
NM_002485.4(NBN):c.1921G>A (p.Asp641Asn)
NM_002485.4(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.4(NBN):c.1923C>A (p.Asp641Glu) rs1563513669
NM_002485.4(NBN):c.1925A>G (p.Lys642Arg) rs587781547
NM_002485.4(NBN):c.1931A>G (p.Gln644Arg) rs1554556598
NM_002485.4(NBN):c.1935T>A (p.Asp645Glu)
NM_002485.4(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.4(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.4(NBN):c.1952C>T (p.Pro651Leu) rs1554556572
NM_002485.4(NBN):c.1954A>G (p.Lys652Glu)
NM_002485.4(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.4(NBN):c.1961T>G (p.Leu654Arg) rs758728938
NM_002485.4(NBN):c.1966T>C (p.Leu656=) rs878854508
NM_002485.4(NBN):c.1973A>G (p.Glu658Gly) rs587782155
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.1975T>G (p.Phe659Val) rs1060503469
NM_002485.4(NBN):c.1976T>G (p.Phe659Cys)
NM_002485.4(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.4(NBN):c.1979G>C (p.Arg660Thr) rs201781110
NM_002485.4(NBN):c.1986G>A (p.Leu662=) rs571803328
NM_002485.4(NBN):c.1987G>C (p.Val663Leu) rs1554556547
NM_002485.4(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.4(NBN):c.1998_1999CT[1] (p.Ser667fs) rs1057516852
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.199A>G (p.Thr67Ala) rs876660922
NM_002485.4(NBN):c.19G>A (p.Ala7Thr) rs587780779
NM_002485.4(NBN):c.2002A>G (p.Thr668Ala) rs138913151
NM_002485.4(NBN):c.2007C>T (p.Ser669=) rs200399787
NM_002485.4(NBN):c.2009G>A (p.Arg670Lys)
NM_002485.4(NBN):c.200C>T (p.Thr67Ile)
NM_002485.4(NBN):c.2012A>G (p.Asn671Ser) rs1563513183
NM_002485.4(NBN):c.2015C>T (p.Pro672Leu) rs6413508
NM_002485.4(NBN):c.2016A>G (p.Pro672=) rs1061302
NM_002485.4(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.4(NBN):c.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.2029_2031GAT[1] (p.Asp678del) rs1554556498
NM_002485.4(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.4(NBN):c.2036A>G (p.Tyr679Cys) rs370295427
NM_002485.4(NBN):c.2037T>C (p.Tyr679=) rs864622555
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2046A>G (p.Leu682=) rs1554556481
NM_002485.4(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.4(NBN):c.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.4(NBN):c.2055C>G (p.Phe685Leu)
NM_002485.4(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.4(NBN):c.2063T>G (p.Phe688Cys) rs1563512800
NM_002485.4(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+2delT rs1057517075
NM_002485.4(NBN):c.2070+4G>A rs876660950
NM_002485.4(NBN):c.2070+5G>A rs1323512485
NM_002485.4(NBN):c.2070+5G>T rs1323512485
NM_002485.4(NBN):c.2070+7A>G rs757339440
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-2A>C rs775397477
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2071G>A (p.Val691Ile) rs772059959
NM_002485.4(NBN):c.2073C>T (p.Val691=) rs876658178
NM_002485.4(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.4(NBN):c.2078A>G (p.Tyr693Cys) rs1563508706
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2080C>T (p.Pro694Ser)
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2083G>T (p.Gly695Ter) rs1554555835
NM_002485.4(NBN):c.2086G>A (p.Ala696Thr)
NM_002485.4(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.4(NBN):c.208G>A (p.Asp70Asn)
NM_002485.4(NBN):c.2094A>G (p.Lys698=) rs878854509
NM_002485.4(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.4(NBN):c.209A>G (p.Asp70Gly)
NM_002485.4(NBN):c.2103C>T (p.His701=) rs753991062
NM_002485.4(NBN):c.2108T>C (p.Ile703Thr) rs1554555819
NM_002485.4(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.4(NBN):c.2115A>G (p.Gly705=) rs1173178388
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.4(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.4(NBN):c.2120_2128del (p.Asp707_Ile709del) rs1563508381
NM_002485.4(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.4(NBN):c.2129C>T (p.Ala710Val) rs1060503454
NM_002485.4(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.4(NBN):c.2131C>T (p.His711Tyr)
NM_002485.4(NBN):c.2131_2133CAT[1] (p.His712del) rs786204096
NM_002485.4(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.4(NBN):c.2139T>C (p.Ala713=) rs755274971
NM_002485.4(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2141G>A (p.Arg714Gln) rs753270166
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.214_215ins18 (p.?) rs1554568352
NM_002485.4(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.4(NBN):c.2151A>G (p.Thr717=) rs760687282
NM_002485.4(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
NM_002485.4(NBN):c.2156dup (p.Glu720fs)
NM_002485.4(NBN):c.215C>T (p.Ser72Phe) rs1060503484
NM_002485.4(NBN):c.2162A>T (p.Glu721Val) rs1554555751
NM_002485.4(NBN):c.2165G>A (p.Trp722Ter) rs786204181
NM_002485.4(NBN):c.2165G>C (p.Trp722Ser)
NM_002485.4(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.4(NBN):c.2174A>C (p.Gln725Pro) rs878854510
NM_002485.4(NBN):c.2177A>C (p.Glu726Ala) rs1554555736
NM_002485.4(NBN):c.2181G>A (p.Met727Ile)
NM_002485.4(NBN):c.2183A>T (p.Glu728Val) rs1060503487
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2184+5G>A rs1563507830
NM_002485.4(NBN):c.2184+7A>G rs200812782
NM_002485.4(NBN):c.2184+8G>C rs730881842
NM_002485.4(NBN):c.2184G>A (p.Glu728=)
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2188C>T (p.Gln730Ter) rs1554554267
NM_002485.4(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.4(NBN):c.21C>G (p.Ala7=) rs370050587
NM_002485.4(NBN):c.21C>T (p.Ala7=) rs370050587
NM_002485.4(NBN):c.2202A>G (p.Ala734=) rs200452212
NM_002485.4(NBN):c.2205_2207AGA[1] (p.Glu737del) rs1554554251
NM_002485.4(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.4(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.4(NBN):c.2220T>C (p.Ala740=) rs147494981
NM_002485.4(NBN):c.2221G>A (p.Asp741Asn)
NM_002485.4(NBN):c.2224G>T (p.Asp742Tyr)
NM_002485.4(NBN):c.2226T>A (p.Asp742Glu) rs767523514
NM_002485.4(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.4(NBN):c.2226_2234+4del rs1563497529
NM_002485.4(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.4(NBN):c.222T>G (p.Tyr74Ter) rs1563581193
NM_002485.4(NBN):c.2232del (p.Phe744fs) rs1554554233
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.2234+5A>C
NM_002485.4(NBN):c.2234+5A>G
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.2235-8C>T rs369037495
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
NM_002485.4(NBN):c.226dup (p.Thr76fs) rs1554568340
NM_002485.4(NBN):c.227C>A (p.Thr76Asn) rs587781412
NM_002485.4(NBN):c.227C>T (p.Thr76Ile) rs587781412
NM_002485.4(NBN):c.231dup (p.Val78fs)
NM_002485.4(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.4(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.4(NBN):c.23C>T (p.Ala8Val) rs1060503459
NM_002485.4(NBN):c.241G>T (p.Glu81Ter)
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.4(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.4(NBN):c.250C>T (p.Gln84Ter)
NM_002485.4(NBN):c.254A>G (p.Asn85Ser) rs587780095
NM_002485.4(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.4(NBN):c.26G>T (p.Gly9Val) rs1554569664
NM_002485.4(NBN):c.26del (p.Gly9fs) rs1060503485
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.279G>A (p.Ser93=) rs587780781
NM_002485.4(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.283G>C (p.Asp95His)
NM_002485.4(NBN):c.284A>G (p.Asp95Gly) rs545276922
NM_002485.4(NBN):c.286G>A (p.Gly96Ser) rs730882133
NM_002485.4(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.4(NBN):c.28C>A (p.Pro10Thr) rs758228844
NM_002485.4(NBN):c.290T>C (p.Ile97Thr) rs1554568295
NM_002485.4(NBN):c.292A>C (p.Thr98Pro) rs1060503453
NM_002485.4(NBN):c.296T>A (p.Phe99Tyr) rs1187898389
NM_002485.4(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.4(NBN):c.301G>A (p.Val101Met) rs786202139
NM_002485.4(NBN):c.302T>C (p.Val101Ala) rs185493105
NM_002485.4(NBN):c.302T>G (p.Val101Gly) rs185493105
NM_002485.4(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.4(NBN):c.308G>T (p.Gly103Val) rs1554568272
NM_002485.4(NBN):c.30G>C (p.Pro10=) rs750391983
NM_002485.4(NBN):c.310A>G (p.Ser104Gly) rs876658400
NM_002485.4(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.4(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.4(NBN):c.320+6A>G rs757321173
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.323T>C (p.Ile108Thr) rs775217949
NM_002485.4(NBN):c.329A>G (p.Tyr110Cys) rs1355269482
NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.4(NBN):c.332A>G (p.Glu111Gly) rs876659320
NM_002485.4(NBN):c.333G>A (p.Glu111=) rs376455714
NM_002485.4(NBN):c.335C>G (p.Pro112Arg) rs759723870
NM_002485.4(NBN):c.340G>A (p.Val114Ile) rs771034958
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.343G>A (p.Ala115Thr)
NM_002485.4(NBN):c.346T>C (p.Cys116Arg)
NM_002485.4(NBN):c.349T>C (p.Ser117Pro) rs1563579445
NM_002485.4(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.4(NBN):c.350C>T (p.Ser117Phe) rs1060503468
NM_002485.4(NBN):c.350_352CTT[1] (p.Ser118del) rs730881841
NM_002485.4(NBN):c.356G>C (p.Cys119Ser) rs749272832
NM_002485.4(NBN):c.359T>C (p.Leu120Ser) rs1563579387
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.363T>A (p.Asp121Glu) rs987369991
NM_002485.4(NBN):c.36A>T (p.Gly12=) rs1554569658
NM_002485.4(NBN):c.37+10G>A rs369408590
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+2dupT rs876658183
NM_002485.4(NBN):c.37+3A>G rs764356392
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.37+7G>A rs372850559
NM_002485.4(NBN):c.37+8C>T rs1554569655
NM_002485.4(NBN):c.370G>A (p.Gly124Arg) rs1064794806
NM_002485.4(NBN):c.371G>A (p.Gly124Glu) rs781671474
NM_002485.4(NBN):c.373A>C (p.Lys125Gln) rs1563579253
NM_002485.4(NBN):c.376A>T (p.Thr126Ser)
NM_002485.4(NBN):c.377del (p.Thr126fs) rs1554567972
NM_002485.4(NBN):c.37G>A (p.Gly13Arg) rs757112911
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-10T>C rs556807466
NM_002485.4(NBN):c.38-3C>G rs876661099
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.38-9T>G
NM_002485.4(NBN):c.380C>G (p.Ala127Gly) rs1554567966
NM_002485.4(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.4(NBN):c.384A>G (p.Leu128=) rs587780782
NM_002485.4(NBN):c.385A>C (p.Asn129His) rs1060503477
NM_002485.4(NBN):c.388C>G (p.Gln130Glu)
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.4(NBN):c.393T>G (p.Ala131=) rs372061224
NM_002485.4(NBN):c.394A>G (p.Ile132Val) rs756946899
NM_002485.4(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.4(NBN):c.397T>C (p.Leu133=) rs1229464840
NM_002485.4(NBN):c.39A>C (p.Gly13=) rs876660470
NM_002485.4(NBN):c.3G>A (p.Met1Ile) rs1554569682
NM_002485.4(NBN):c.403C>G (p.Leu135Val) rs1409617560
NM_002485.4(NBN):c.405T>G (p.Leu135=) rs1554567937
NM_002485.4(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.4(NBN):c.414T>C (p.Phe138=) rs1554567933
NM_002485.4(NBN):c.415A>G (p.Thr139Ala) rs543852763
NM_002485.4(NBN):c.417T>C (p.Thr139=) rs760586161
NM_002485.4(NBN):c.424A>G (p.Asn142Asp)
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.426T>C (p.Asn142=) rs143070291
NM_002485.4(NBN):c.431C>G (p.Thr144Arg) rs1554567906
NM_002485.4(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.4(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.4(NBN):c.453C>T (p.Val151=) rs1176879721
NM_002485.4(NBN):c.454A>G (p.Met152Val) rs1554567872
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.459A>C (p.Val153=) rs566630862
NM_002485.4(NBN):c.459A>G (p.Val153=) rs566630862
NM_002485.4(NBN):c.45A>C (p.Pro15=) rs577332041
NM_002485.4(NBN):c.45A>G (p.Pro15=) rs577332041
NM_002485.4(NBN):c.468A>C (p.Lys156Asn) rs730881858
NM_002485.4(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.4(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.4(NBN):c.471T>C (p.Val157=) rs864622275
NM_002485.4(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.4(NBN):c.47A>C (p.Tyr16Ser) rs864622726
NM_002485.4(NBN):c.480+10A>G rs878854512
NM_002485.4(NBN):c.480+3A>G rs756817252
NM_002485.4(NBN):c.480+5G>A rs753578226
NM_002485.4(NBN):c.480+7T>G rs1554567841
NM_002485.4(NBN):c.480+8G>A rs777117690
NM_002485.4(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.481-3T>C rs1060503456
NM_002485.4(NBN):c.481-4G>A rs754864893
NM_002485.4(NBN):c.481-9T>A rs1563574400
NM_002485.4(NBN):c.483A>G (p.Thr161=) rs758276775
NM_002485.4(NBN):c.484A>C (p.Ile162Leu)
NM_002485.4(NBN):c.485T>A (p.Ile162Lys) rs1554566766
NM_002485.4(NBN):c.493C>A (p.Leu165Ile) rs776810966
NM_002485.4(NBN):c.494T>G (p.Leu165Arg) rs1060503458
NM_002485.4(NBN):c.495C>G (p.Leu165=) rs764290829
NM_002485.4(NBN):c.496_512del (p.Ile166fs) rs758830069
NM_002485.4(NBN):c.499dup (p.Cys167fs)
NM_002485.4(NBN):c.500G>A (p.Cys167Tyr) rs1060503464
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.506G>A (p.Arg169His) rs776134250
NM_002485.4(NBN):c.508C>G (p.Pro170Ala) rs1554566720
NM_002485.4(NBN):c.509C>T (p.Pro170Leu) rs587782411
NM_002485.4(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.514G>A (p.Val172Ile)
NM_002485.4(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.4(NBN):c.520C>A (p.Pro174Thr) rs587778546
NM_002485.4(NBN):c.522A>G (p.Pro174=) rs1489530490
NM_002485.4(NBN):c.523G>C (p.Glu175Gln)
NM_002485.4(NBN):c.52C>A (p.Leu18Ile) rs587781939
NM_002485.4(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.4(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.4(NBN):c.537A>T (p.Glu179Asp) rs1554566673
NM_002485.4(NBN):c.539T>G (p.Phe180Cys) rs1060503457
NM_002485.4(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.4(NBN):c.541C>A (p.Leu181Met) rs1060504930
NM_002485.4(NBN):c.541C>T (p.Leu181=) rs1060504930
NM_002485.4(NBN):c.547G>A (p.Ala183Thr) rs151070415
NM_002485.4(NBN):c.550G>A (p.Val184Ile) rs1554566641
NM_002485.4(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002485.4(NBN):c.559A>C (p.Lys187Gln) rs1554566633
NM_002485.4(NBN):c.562A>C (p.Lys188Gln) rs1060503476
NM_002485.4(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.4(NBN):c.580G>A (p.Glu194Lys) rs1554566610
NM_002485.4(NBN):c.584+3A>G rs587782407
NM_002485.4(NBN):c.584+5A>G rs1309889719
NM_002485.4(NBN):c.584+6T>C rs1554566602
NM_002485.4(NBN):c.584+7T>A rs1057523869
NM_002485.4(NBN):c.584+9T>C rs746913991
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.585-2A>G
NM_002485.4(NBN):c.585-3C>A
NM_002485.4(NBN):c.585-3C>T rs779430868
NM_002485.4(NBN):c.588T>C (p.Phe196=) rs745821999
NM_002485.4(NBN):c.590A>G (p.Tyr197Cys) rs1563562194
NM_002485.4(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.4(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.4(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.4(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.596C>G (p.Pro199Arg) rs730881844
NM_002485.4(NBN):c.59C>T (p.Thr20Ile) rs1563584711
NM_002485.4(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.4(NBN):c.602A>T (p.Asp201Val) rs587780098
NM_002485.4(NBN):c.60del (p.Gly21fs) rs758708229
NM_002485.4(NBN):c.611C>G (p.Ser204Cys) rs876659478
NM_002485.4(NBN):c.613A>G (p.Ile205Val) rs730881845
NM_002485.4(NBN):c.620G>T (p.Ser207Ile) rs587780099
NM_002485.4(NBN):c.621T>C (p.Ser207=) rs876658177
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.633T>A (p.Asp211Glu) rs377700348
NM_002485.4(NBN):c.63C>T (p.Gly21=) rs1064795458
NM_002485.4(NBN):c.642A>G (p.Gly214=) rs763363235
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.644G>A (p.Arg215Gln) rs61753718
NM_002485.4(NBN):c.646C>A (p.Gln216Lys)
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.64G>T (p.Val22Phe) rs369910645
NM_002485.4(NBN):c.653G>T (p.Arg218Ile) rs786202250
NM_002485.4(NBN):c.656A>G (p.Lys219Arg) rs376951288
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.658C>G (p.Gln220Glu) rs876659811
NM_002485.4(NBN):c.658_660del (p.Gln220del) rs1563561699
NM_002485.4(NBN):c.660A>G (p.Gln220=) rs876658674
NM_002485.4(NBN):c.663C>T (p.Ile221=) rs372705975
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.4(NBN):c.678A>G (p.Thr226=) rs878854513
NM_002485.4(NBN):c.680T>C (p.Phe227Ser) rs749025721
NM_002485.4(NBN):c.681delT (p.Phe227LeufsTer4) rs1057519586
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.684A>G (p.Ile228Met) rs1064793416
NM_002485.4(NBN):c.692A>C (p.Asn231Thr)
NM_002485.4(NBN):c.692A>G (p.Asn231Ser) rs1309274168
NM_002485.4(NBN):c.693T>C (p.Asn231=) rs878854514
NM_002485.4(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.4(NBN):c.696C>T (p.Ala232=) rs566091759
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.701A>G (p.Gln234Arg)
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+1G>C rs1057517104
NM_002485.4(NBN):c.702+7A>G rs864622602
NM_002485.4(NBN):c.702+9G>A rs748373099
NM_002485.4(NBN):c.703-18G>A rs769418
NM_002485.4(NBN):c.703-3T>C rs876659566
NM_002485.4(NBN):c.703-6T>G rs1563560265
NM_002485.4(NBN):c.706A>G (p.Lys236Glu) rs1060503482
NM_002485.4(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.4(NBN):c.720C>T (p.Ser240=) rs781323381
NM_002485.4(NBN):c.721G>A (p.Ala241Thr) rs587781333
NM_002485.4(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.4(NBN):c.72C>T (p.Tyr24=) rs1001590969
NM_002485.4(NBN):c.731T>C (p.Phe244Ser)
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.73G>T (p.Val25Phe)
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.747T>A (p.Ala249=) rs780134747
NM_002485.4(NBN):c.750G>T (p.Arg250Ser) rs758852942
NM_002485.4(NBN):c.757A>G (p.Thr253Ala) rs765602971
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.4(NBN):c.769G>A (p.Glu257Lys) rs878854516
NM_002485.4(NBN):c.76G>T (p.Val26Phe)
NM_002485.4(NBN):c.772G>C (p.Glu258Gln) rs922057169
NM_002485.4(NBN):c.773A>G (p.Glu258Gly) rs786203380
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002485.4(NBN):c.77T>C (p.Val26Ala)
NM_002485.4(NBN):c.783T>G (p.Asn261Lys) rs375336614
NM_002485.4(NBN):c.786C>A (p.Phe262Leu) rs372159380
NM_002485.4(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.4(NBN):c.794C>T (p.Ala265Val) rs61612852
NM_002485.4(NBN):c.796C>T (p.Pro266Ser) rs762956906
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002485.4(NBN):c.798G>A (p.Pro266=) rs368786672
NM_002485.4(NBN):c.7A>T (p.Lys3Ter) rs779098734
NM_002485.4(NBN):c.803C>T (p.Thr268Met) rs535602436
NM_002485.4(NBN):c.804G>A (p.Thr268=) rs141443872
NM_002485.4(NBN):c.804G>T (p.Thr268=) rs141443872
NM_002485.4(NBN):c.804_805GT[2] (p.Val270fs) rs786202490
NM_002485.4(NBN):c.806G>A (p.Cys269Tyr) rs768822147
NM_002485.4(NBN):c.806G>C (p.Cys269Ser)
NM_002485.4(NBN):c.806G>T (p.Cys269Phe)
NM_002485.4(NBN):c.80G>T (p.Gly27Val) rs755171159
NM_002485.4(NBN):c.811G>A (p.Val271Ile) rs876659388
NM_002485.4(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.4(NBN):c.819A>T (p.Thr273=) rs147660518
NM_002485.4(NBN):c.822A>G (p.Gly274=) rs1270883453
NM_002485.4(NBN):c.826A>T (p.Thr276Ser) rs1554563895
NM_002485.4(NBN):c.827C>G (p.Thr276Arg) rs864622304
NM_002485.4(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.4(NBN):c.835C>G (p.Gln279Glu)
NM_002485.4(NBN):c.836A>C (p.Gln279Pro) rs864622116
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.836del (p.Gln279fs) rs1554563878
NM_002485.4(NBN):c.83G>A (p.Arg28Lys) rs876658581
NM_002485.4(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.4(NBN):c.842T>G rs786205135
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.848C>A (p.Pro283His) rs1554563853
NM_002485.4(NBN):c.851A>G (p.Asp284Gly)
NM_002485.4(NBN):c.853T>G (p.Cys285Gly) rs1563559186
NM_002485.4(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.4(NBN):c.864A>G (p.Lys288=) rs1554563842
NM_002485.4(NBN):c.865T>A (p.Trp289Arg) rs1563559145
NM_002485.4(NBN):c.865T>G (p.Trp289Gly) rs1563559145
NM_002485.4(NBN):c.867G>T (p.Trp289Cys) rs1060503475
NM_002485.4(NBN):c.86A>G (p.Lys29Arg) rs1554569112
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.4(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.4(NBN):c.874T>C (p.Ser292Pro) rs876660700
NM_002485.4(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.4(NBN):c.884A>C (p.Asp295Ala) rs1208423434
NM_002485.4(NBN):c.884A>T (p.Asp295Val) rs1208423434
NM_002485.4(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.4(NBN):c.895A>C (p.Arg299=) rs1554563784
NM_002485.4(NBN):c.896+2T>C
NM_002485.4(NBN):c.896+3A>T
NM_002485.4(NBN):c.896+4T>C rs190843577
NM_002485.4(NBN):c.896+7A>G rs1060504926
NM_002485.4(NBN):c.897-11_897-6delTATTCT
NM_002485.4(NBN):c.897-2A>G
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.897-?_2184+?del
NM_002485.4(NBN):c.897G>A (p.Arg299=)
NM_002485.4(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.4(NBN):c.901G>C (p.Gly301Arg) rs1280333137
NM_002485.4(NBN):c.911C>G (p.Pro304Arg) rs536965870
NM_002485.4(NBN):c.911C>T (p.Pro304Leu) rs536965870
NM_002485.4(NBN):c.911del (p.Pro304fs) rs1563549036
NM_002485.4(NBN):c.913A>C (p.Ile305Leu) rs1554562189
NM_002485.4(NBN):c.917C>T (p.Pro306Leu)
NM_002485.4(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.4(NBN):c.919G>C (p.Glu307Gln) rs1554562182
NM_002485.4(NBN):c.91_92TG[1] (p.Ala32fs) rs864622253
NM_002485.4(NBN):c.921A>G (p.Glu307=) rs1554562180
NM_002485.4(NBN):c.923C>G (p.Ala308Gly) rs1554562176
NM_002485.4(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.4(NBN):c.929T>C (p.Ile310Thr) rs753812768
NM_002485.4(NBN):c.92G>A (p.Cys31Tyr) rs1377520302
NM_002485.4(NBN):c.92G>C (p.Cys31Ser)
NM_002485.4(NBN):c.930T>A (p.Ile310=) rs142813526
NM_002485.4(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.4(NBN):c.935T>C (p.Leu312Ser) rs371480039
NM_002485.4(NBN):c.937G>T (p.Ala313Ser) rs876660584
NM_002485.4(NBN):c.938C>T (p.Ala313Val) rs730881862
NM_002485.4(NBN):c.939G>A (p.Ala313=) rs145750430
NM_002485.4(NBN):c.939G>T (p.Ala313=) rs145750430
NM_002485.4(NBN):c.940G>A (p.Val314Met) rs529845940
NM_002485.4(NBN):c.941T>A (p.Val314Glu)
NM_002485.4(NBN):c.942G>A (p.Val314=) rs749757928
NM_002485.4(NBN):c.943A>G (p.Ile315Val) rs878854517
NM_002485.4(NBN):c.949A>G (p.Met317Val) rs587782502
NM_002485.4(NBN):c.949A>T (p.Met317Leu) rs587782502
NM_002485.4(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.4(NBN):c.960G>A (p.Lys320=) rs1554562125
NM_002485.4(NBN):c.964T>G (p.Tyr322Asp) rs1554562123
NM_002485.4(NBN):c.966C>G (p.Tyr322Ter)
NM_002485.4(NBN):c.966C>T (p.Tyr322=) rs748453607
NM_002485.4(NBN):c.976C>G (p.Gln326Glu)
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.4(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002485.4(NBN):c.980G>T (p.Gly327Val)
NM_002485.4(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.4(NBN):c.988A>G (p.Ser330Gly) rs1554562092
NM_002485.4(NBN):c.990T>C (p.Ser330=) rs1482013266
NM_002485.4(NBN):c.992_994+3del rs1563548315
NM_002485.4(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.4(NBN):c.994+10G>A rs753761865
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.994+5T>C rs778254433
NM_002485.4(NBN):c.995-1G>C rs1554560523
NM_002485.4(NBN):c.995-2A>C rs876659521
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002485.4(NBN):c.999_1000insGAAAGA (p.Lys334_Thr335insGluArg)
NM_002485.4(NBN):c.[1030C>T];[842T>G]

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