ClinVar Miner

List of variants in gene NBN studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 919
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HGVS dbSNP
LRG_158t1:c.703-20insA
NM_002485.4(NBN):c.-10A>T rs759094270
NM_002485.4(NBN):c.-12G>A rs375584006
NM_002485.4(NBN):c.-15T>A rs376360566
NM_002485.4(NBN):c.-16C>T rs751492107
NM_002485.4(NBN):c.-20A>C
NM_002485.4(NBN):c.-2C>A rs202104448
NM_002485.4(NBN):c.-2C>T rs202104448
NM_002485.4(NBN):c.-3C>G rs1276313619
NM_002485.4(NBN):c.-4A>G rs1234783086
NM_002485.4(NBN):c.-7C>A
NM_002485.4(NBN):c.-8_-7delCCinsAT rs1554569689
NM_002485.4(NBN):c.1002G>A (p.Lys334=) rs1554560517
NM_002485.4(NBN):c.1006A>G (p.Thr336Ala) rs1554560506
NM_002485.4(NBN):c.1007C>T (p.Thr336Ile) rs876660218
NM_002485.4(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.4(NBN):c.1008_1010delAAC (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1008_1010dupAAC (p.Thr337_Pro338insThr) rs770500095
NM_002485.4(NBN):c.1010C>T (p.Thr337Ile)
NM_002485.4(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
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.1024C>T (p.Leu342Phe) rs587782656
NM_002485.4(NBN):c.1027T>C (p.Ser343Pro) rs530636519
NM_002485.4(NBN):c.1029dup (p.Gln344Thrfs)
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.102_104delGATinsAAC (p.Ile35Thr) rs1554569095
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
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.1040C>G (p.Ser347Ter) rs876660290
NM_002485.4(NBN):c.1043T>C (p.Val348Ala) rs876660929
NM_002485.4(NBN):c.1046A>T (p.Asp349Val) rs876659431
NM_002485.4(NBN):c.1047_1049delTGA (p.Asp349del) rs876660721
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.1058T>C (p.Met353Thr) rs1028462350
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.1060C>G (p.Pro354Ala)
NM_002485.4(NBN):c.1061C>A (p.Pro354Gln) rs1354459986
NM_002485.4(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
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.1073T>G (p.Val358Gly)
NM_002485.4(NBN):c.1076A>G (p.Asn359Ser) rs768886664
NM_002485.4(NBN):c.1080T>A (p.Thr360=)
NM_002485.4(NBN):c.1080T>C (p.Thr360=) rs876660415
NM_002485.4(NBN):c.1080_1082delTAC (p.Thr362del) rs587782745
NM_002485.4(NBN):c.1081A>G (p.Thr361Ala)
NM_002485.4(NBN):c.1083A>G (p.Thr361=) rs761042468
NM_002485.4(NBN):c.1086A>C (p.Thr362=) rs876659734
NM_002485.4(NBN):c.1086A>G (p.Thr362=) rs876659734
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.1090G>A (p.Val364Ile)
NM_002485.4(NBN):c.1091T>C (p.Val364Ala) rs370229163
NM_002485.4(NBN):c.1096G>A (p.Asp366Asn) rs1554560367
NM_002485.4(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.4(NBN):c.10C>T (p.Leu4=) rs1426394881
NM_002485.4(NBN):c.1115C>G (p.Ala372Gly) rs587781438
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+11_1124+13delTTC rs747584990
NM_002485.4(NBN):c.1124+18C>T rs2234744
NM_002485.4(NBN):c.1124+18_1124+19delCCinsTT rs1554560320
NM_002485.4(NBN):c.1124+18_1124+20delCCGinsTCA rs1554560316
NM_002485.4(NBN):c.1124+19C>T rs13312903
NM_002485.4(NBN):c.1124+1G>C rs1057517209
NM_002485.4(NBN):c.1124+20G>A rs201436502
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.1124G>A (p.Trp375Ter) rs1394437421
NM_002485.4(NBN):c.1125-2A>G rs1554559373
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1125-4A>G rs1554559375
NM_002485.4(NBN):c.112G>C (p.Asp38His) rs876659565
NM_002485.4(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.4(NBN):c.1136A>G (p.Glu379Gly)
NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs) rs587781969
NM_002485.4(NBN):c.1143A>G (p.Pro381=) rs1554559361
NM_002485.4(NBN):c.1146A>G (p.Lys382=) rs1554559357
NM_002485.4(NBN):c.1147G>A (p.Glu383Lys) rs772909239
NM_002485.4(NBN):c.1147G>C (p.Glu383Gln) rs772909239
NM_002485.4(NBN):c.1150delA (p.Ile384Serfs) rs1554559348
NM_002485.4(NBN):c.1152C>G (p.Ile384Met) rs551802153
NM_002485.4(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.4(NBN):c.115delC (p.Gln39Serfs) rs864622511
NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.4(NBN):c.1162A>C (p.Lys388Gln) rs1252203605
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)
NM_002485.4(NBN):c.1173A>G (p.Gln391=) rs780602705
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.1186delC (p.Leu396Phefs) rs1554559314
NM_002485.4(NBN):c.1190C>T (p.Ser397Leu) rs1554559308
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.1198G>A (p.Ala400Thr) rs551602980
NM_002485.4(NBN):c.1199C>T (p.Ala400Val) rs779218232
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.11delT (p.Leu4Argfs) 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.1202C>T (p.Pro401Leu) rs104895033
NM_002485.4(NBN):c.1203C>G (p.Pro401=) rs876660274
NM_002485.4(NBN):c.1204A>G (p.Thr402Ala) rs201373377
NM_002485.4(NBN):c.1208T>C (p.Val403Ala) rs1554559273
NM_002485.4(NBN):c.120G>C (p.Ser40=) rs774989816
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1218C>G (p.Ser406=) rs1554559261
NM_002485.4(NBN):c.121A>T (p.Ile41Phe)
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1227A>G (p.Thr409=) rs1554559251
NM_002485.4(NBN):c.1229G>A (p.Ser410Asn)
NM_002485.4(NBN):c.122T>G (p.Ile41Ser) rs1554569074
NM_002485.4(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.4(NBN):c.1231T>C (p.Ser411Pro)
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1236T>G (p.Asn412Lys)
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.123delC (p.Ser42Alafs) rs587781891
NM_002485.4(NBN):c.1242T>C (p.Asn414=) rs864622135
NM_002485.4(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) rs587781532
NM_002485.4(NBN):c.1246A>G (p.Met416Val) rs1554559222
NM_002485.4(NBN):c.1248G>T (p.Met416Ile) rs756572268
NM_002485.4(NBN):c.1255A>G (p.Asn419Asp) rs730881849
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.4(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.4(NBN):c.1275A>T (p.Arg425Ser)
NM_002485.4(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1281A>G (p.Pro427=) rs1554559167
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.1285T>G (p.Tyr429Asp) rs587782409
NM_002485.4(NBN):c.1287T>C (p.Tyr429=) rs1554559152
NM_002485.4(NBN):c.1289A>G (p.Gln430Arg)
NM_002485.4(NBN):c.128G>A (p.Arg43Gln) rs759146120
NM_002485.4(NBN):c.1296A>G (p.Ser432=) rs1554559144
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>T (p.Thr434Ile) rs757452107
NM_002485.4(NBN):c.1306T>C (p.Leu436=) rs375885975
NM_002485.4(NBN):c.1312A>G (p.Ser438Gly) rs1456827107
NM_002485.4(NBN):c.1313G>A (p.Ser438Asn)
NM_002485.4(NBN):c.1313G>T (p.Ser438Ile) rs786203131
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.1324A>G (p.Ser442Gly) rs1554559097
NM_002485.4(NBN):c.1325G>C (p.Ser442Thr) rs1554559096
NM_002485.4(NBN):c.1328A>G (p.Lys443Arg) rs1554559092
NM_002485.4(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.4(NBN):c.1334G>C (p.Arg445Thr) rs1448696637
NM_002485.4(NBN):c.1335G>A (p.Arg445=) rs1554559085
NM_002485.4(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
NM_002485.4(NBN):c.1336delG (p.Ala446Leufs) rs1554559083
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.1346A>G (p.Gln449Arg)
NM_002485.4(NBN):c.1347G>A (p.Gln449=) rs761492204
NM_002485.4(NBN):c.1351C>G (p.Gln451Glu) rs1011573169
NM_002485.4(NBN):c.1352A>G (p.Gln451Arg) rs1554559068
NM_002485.4(NBN):c.1352_1353delAGinsCC (p.Gln451Pro) rs1554559065
NM_002485.4(NBN):c.1353G>A (p.Gln451=) rs1554559063
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.135T>C (p.His45=) rs770618624
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.1363A>G (p.Ile455Val)
NM_002485.4(NBN):c.1363A>T (p.Ile455Phe) rs1554559041
NM_002485.4(NBN):c.1366delA (p.Arg456Glufs) rs1554559038
NM_002485.4(NBN):c.1368A>C (p.Arg456Ser)
NM_002485.4(NBN):c.1368A>G (p.Arg456=) rs1554559036
NM_002485.4(NBN):c.1369A>G (p.Asn457Asp) rs1554559034
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.1382C>T (p.Pro461Leu) rs367760321
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1389C>T (p.Thr463=)
NM_002485.4(NBN):c.1395A>G (p.Lys465=) rs1213870507
NM_002485.4(NBN):c.1396dup (p.Arg466Lysfs) rs1349928568
NM_002485.4(NBN):c.1397+10T>C rs1554558985
NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA rs876659666
NM_002485.4(NBN):c.1397+1delG rs1060503467
NM_002485.4(NBN):c.1397+3C>G rs876660481
NM_002485.4(NBN):c.1397+7T>G rs1554558986
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1398-10dupT rs587780555
NM_002485.4(NBN):c.1398-14T>A
NM_002485.4(NBN):c.1398-17T>G rs561077201
NM_002485.4(NBN):c.1398-19C>T rs201495716
NM_002485.4(NBN):c.1398-203G>A rs139084367
NM_002485.4(NBN):c.1398-20T>C rs1554558623
NM_002485.4(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.4(NBN):c.139G>A (p.Val47Met) rs876658446
NM_002485.4(NBN):c.139G>T (p.Val47Leu) rs876658446
NM_002485.4(NBN):c.13C>G (p.Leu5Val)
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.1409A>G (p.Glu470Gly) rs876660501
NM_002485.4(NBN):c.1410A>G (p.Glu470=) rs1554558592
NM_002485.4(NBN):c.1412A>G (p.Glu471Gly) rs878854505
NM_002485.4(NBN):c.1413A>C (p.Glu471Asp) rs1554558584
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_1431dupAGAAATGTCTTCA (p.Cys478Argfs) rs864622333
NM_002485.4(NBN):c.141_142delGT (p.Leu48Asnfs) rs750375741
NM_002485.4(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.4(NBN):c.1425G>C (p.Met475Ile)
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1432T>A (p.Cys478Ser)
NM_002485.4(NBN):c.1434C>T (p.Cys478=) rs1060503473
NM_002485.4(NBN):c.1436A>G (p.Lys479Arg) rs786202028
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.1448T>C (p.Ile483Thr) rs876658347
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.1457C>T (p.Ser486Phe)
NM_002485.4(NBN):c.1458T>A (p.Ser486=) rs1554558524
NM_002485.4(NBN):c.1460G>A (p.Cys487Tyr) rs587782118
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
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.1475A>G (p.Gln492Arg) rs768883132
NM_002485.4(NBN):c.1476A>C (p.Gln492His) rs1382919150
NM_002485.4(NBN):c.147T>G (p.Thr49=) rs749206453
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1481A>C (p.Gln494Pro) rs1381248118
NM_002485.4(NBN):c.1483_1484delCCinsA (p.Pro495Metfs) rs764884516
NM_002485.4(NBN):c.1484C>T (p.Pro495Leu) rs863224714
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1490C>T (p.Thr497Ile)
NM_002485.4(NBN):c.1491A>G (p.Thr497=) rs1554558489
NM_002485.4(NBN):c.1491A>T (p.Thr497=)
NM_002485.4(NBN):c.1494C>T (p.Pro498=) rs1554558484
NM_002485.4(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.4(NBN):c.1496C>T (p.Ser499Leu) rs772411713
NM_002485.4(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.4(NBN):c.1509T>C (p.Asn503=) rs876660751
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.1515delG (p.Glu505Aspfs) rs759232053
NM_002485.4(NBN):c.1516C>G (p.Gln506Glu) rs876658535
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.4(NBN):c.1535A>G (p.Glu512Gly) rs876659367
NM_002485.4(NBN):c.1550_1551insA (p.Asn517Lysfs) rs587782344
NM_002485.4(NBN):c.1551C>T (p.Asn517=) rs876658744
NM_002485.4(NBN):c.1554dup (p.Asp519Argfs) rs1554558423
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.1563C>T (p.Asn521=) rs765959451
NM_002485.4(NBN):c.1567T>C (p.Phe523Leu) rs1554558419
NM_002485.4(NBN):c.156T>C (p.Phe52=) rs777925415
NM_002485.4(NBN):c.156_157delTT (p.Ser53Cysfs) rs767454740
NM_002485.4(NBN):c.1570A>G (p.Thr524Ala) rs1292640945
NM_002485.4(NBN):c.1574A>G (p.Asp525Gly) rs1455928001
NM_002485.4(NBN):c.1575T>A (p.Asp525Glu) rs587782150
NM_002485.4(NBN):c.1583delT (p.Leu528Terfs) rs1554558406
NM_002485.4(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.4(NBN):c.158C>T (p.Ser53Phe) rs876660243
NM_002485.4(NBN):c.1590T>C (p.Ser530=)
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.15G>C (p.Leu5=) rs1363180098
NM_002485.4(NBN):c.1612_1696del85 (p.Lys538Tyrfs) rs1554558319
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.1623T>C (p.Ala541=)
NM_002485.4(NBN):c.1628A>G (p.Glu543Gly) rs587781624
NM_002485.4(NBN):c.1629A>G (p.Glu543=) rs786201093
NM_002485.4(NBN):c.1635A>G (p.Leu545=)
NM_002485.4(NBN):c.163_171+3del12 rs1057516772
NM_002485.4(NBN):c.1648A>G (p.Lys550Glu) rs1468125809
NM_002485.4(NBN):c.1648_1651delAAAA (p.Lys550Glyfs) rs766044684
NM_002485.4(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.4(NBN):c.1651dupA (p.Arg551Lysfs) rs766044684
NM_002485.4(NBN):c.1657A>G (p.Met553Val) rs746347634
NM_002485.4(NBN):c.1659G>A (p.Met553Ile) rs876659960
NM_002485.4(NBN):c.1660G>T (p.Asp554Tyr) rs1554558349
NM_002485.4(NBN):c.1667T>A (p.Val556Glu) rs558023830
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.167A>G (p.Asn56Ser) rs1554569009
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.1687T>A (p.Leu563Met)
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.1695G>A (p.Gln565=) rs557356152
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.1701C>G (p.Phe567Leu) rs730881853
NM_002485.4(NBN):c.1701C>T (p.Phe567=) rs730881853
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+125T>C rs869312607
NM_002485.4(NBN):c.171+12A>G rs922134221
NM_002485.4(NBN):c.171+3A>G rs1487002693
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1711A>G (p.Lys571Glu) rs587780090
NM_002485.4(NBN):c.1716dupA (p.Glu573Argfs) rs1060503483
NM_002485.4(NBN):c.171G>T (p.Leu57=) rs1554569001
NM_002485.4(NBN):c.172-12C>G
NM_002485.4(NBN):c.172-28_172-20delGACTTTAAA
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1720T>G (p.Leu574Val) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1729G>A (p.Asp577Asn) rs587781881
NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr) rs587781881
NM_002485.4(NBN):c.172A>T (p.Ser58Cys) rs1554568431
NM_002485.4(NBN):c.1732G>T (p.Val578Leu) rs1554558284
NM_002485.4(NBN):c.1735A>G (p.Lys579Glu) rs993110145
NM_002485.4(NBN):c.1737A>G (p.Lys579=)
NM_002485.4(NBN):c.1741C>G (p.Gln581Glu) rs1337679118
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.174T>G (p.Ser58Arg) rs1381256979
NM_002485.4(NBN):c.1752G>T (p.Glu584Asp) rs1554558267
NM_002485.4(NBN):c.1754A>G (p.Glu585Gly) rs763926389
NM_002485.4(NBN):c.1756G>C (p.Asp586His) rs786202588
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.1764T>C (p.Asn588=) rs1554558253
NM_002485.4(NBN):c.1765G>A (p.Val589Ile) rs1554558251
NM_002485.4(NBN):c.1771A>C (p.Lys591Gln) rs1554558249
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.177_180delAACAinsG (p.Thr60del) rs1554568419
NM_002485.4(NBN):c.1780A>G (p.Arg594Gly) rs1554558241
NM_002485.4(NBN):c.1781G>C (p.Arg594Thr) rs1170559670
NM_002485.4(NBN):c.1789A>T (p.Ile597Leu)
NM_002485.4(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.4(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.4(NBN):c.1805C>G (p.Thr602Ser)
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_182delGA (p.Asp61Terfs) rs768378152
NM_002485.4(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.4(NBN):c.1826C>T (p.Pro609Leu)
NM_002485.4(NBN):c.182A>G (p.Asp61Gly)
NM_002485.4(NBN):c.1835G>T (p.Ser612Ile)
NM_002485.4(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.4(NBN):c.183delT (p.Asp61Glufs) rs587782147
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+3A>G rs587780777
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.1848A>G (p.Gln616=) rs587782269
NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.4(NBN):c.1863G>A (p.Gly621=) rs773909162
NM_002485.4(NBN):c.1866G>C (p.Lys622Asn) rs587782221
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.1871G>T (p.Arg624Leu) rs587782297
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1882_1885delGAAG (p.Glu628Thrfs) rs1178384498
NM_002485.4(NBN):c.1888T>C (p.Ser630Pro) rs377132067
NM_002485.4(NBN):c.188T>A (p.Ile63Asn)
NM_002485.4(NBN):c.188delT (p.Ile63Thrfs) 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.18C>G (p.Pro6=) rs786201394
NM_002485.4(NBN):c.18C>T (p.Pro6=) rs786201394
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.190C>A (p.Pro64Thr) rs267602038
NM_002485.4(NBN):c.1910T>A (p.Ile637Lys) rs876658613
NM_002485.4(NBN):c.1911_1914+1del 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+16_1914+18delTTA rs1437396256
NM_002485.4(NBN):c.1914+18_1914+21delAATT rs773894616
NM_002485.4(NBN):c.1914+3G>A rs1554556878
NM_002485.4(NBN):c.1914+744A>C rs748941907
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1915-13A>G rs1554556611
NM_002485.4(NBN):c.1915-627A>G rs869312605
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.1919A>G (p.Asn640Ser) rs748073091
NM_002485.4(NBN):c.191C>T (p.Pro64Leu)
NM_002485.4(NBN):c.1925A>G (p.Lys642Arg) rs587781547
NM_002485.4(NBN):c.192T>G (p.Pro64=) rs1554568378
NM_002485.4(NBN):c.1930C>A (p.Gln644Lys) rs764050423
NM_002485.4(NBN):c.1933G>T (p.Asp645Tyr) rs1064796613
NM_002485.4(NBN):c.193G>A (p.Val65Ile) rs778998026
NM_002485.4(NBN):c.193G>C (p.Val65Leu) rs778998026
NM_002485.4(NBN):c.1940delG (p.Ser647Metfs) rs1554556587
NM_002485.4(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.4(NBN):c.1947G>A (p.Met649Ile) rs1554556579
NM_002485.4(NBN):c.195A>G (p.Val65=) rs1385971118
NM_002485.4(NBN):c.1966T>C (p.Leu656=) rs878854508
NM_002485.4(NBN):c.196T>G (p.Leu66Val) rs1554568371
NM_002485.4(NBN):c.1973A>G (p.Glu658Gly) rs587782155
NM_002485.4(NBN):c.1974delA (p.Glu658Aspfs) rs1057516668
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.1979G>T (p.Arg660Ile) rs201781110
NM_002485.4(NBN):c.1983A>G (p.Ser661=) rs876658655
NM_002485.4(NBN):c.1986G>A (p.Leu662=) rs571803328
NM_002485.4(NBN):c.1986_1999del14 (p.Val663Tyrfs) rs587782653
NM_002485.4(NBN):c.1989G>A (p.Val663=) rs757753217
NM_002485.4(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
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.2002A>G (p.Thr668Ala) rs138913151
NM_002485.4(NBN):c.2003C>T (p.Thr668Ile) rs876658336
NM_002485.4(NBN):c.2004T>C (p.Thr668=)
NM_002485.4(NBN):c.2007C>T (p.Ser669=) rs200399787
NM_002485.4(NBN):c.2008A>G (p.Arg670Gly) rs876658488
NM_002485.4(NBN):c.2009G>T (p.Arg670Ile) rs1554556522
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.201A>C (p.Thr67=) rs876659059
NM_002485.4(NBN):c.2020G>T (p.Gly674Cys)
NM_002485.4(NBN):c.2021G>T (p.Gly674Val)
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.2032_2034delGAT (p.Asp678del) rs1554556498
NM_002485.4(NBN):c.2034T>C (p.Asp678=) rs769252040
NM_002485.4(NBN):c.2036A>G (p.Tyr679Cys) rs370295427
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2041C>T (p.Gln681Ter) rs1554556485
NM_002485.4(NBN):c.2044C>T (p.Leu682=) rs1554556483
NM_002485.4(NBN):c.2046A>G (p.Leu682=) rs1554556481
NM_002485.4(NBN):c.204A>T (p.Leu68Phe) rs786201800
NM_002485.4(NBN):c.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.4(NBN):c.2056A>T (p.Lys686Ter) rs786203920
NM_002485.4(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.4(NBN):c.2061A>G (p.Lys687=) rs758675398
NM_002485.4(NBN):c.2065A>C (p.Lys689Gln) rs1554556461
NM_002485.4(NBN):c.2066A>G (p.Lys689Arg) rs1554556458
NM_002485.4(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.4(NBN):c.2070+13A>G rs558868023
NM_002485.4(NBN):c.2070+16G>A rs1554556450
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+2T>G rs786203223
NM_002485.4(NBN):c.2070+4G>A rs876660950
NM_002485.4(NBN):c.2070+5G>A
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.2071-4A>G rs746994234
NM_002485.4(NBN):c.2071G>A (p.Val691Ile) rs772059959
NM_002485.4(NBN):c.2072T>G (p.Val691Gly)
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.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.4(NBN):c.2082T>C (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2084G>A (p.Gly695Glu) rs1554555834
NM_002485.4(NBN):c.2087C>T (p.Ala696Val)
NM_002485.4(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.4(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.4(NBN):c.2103C>T (p.His701=) rs753991062
NM_002485.4(NBN):c.2104A>G (p.Ile702Val) rs1554555821
NM_002485.4(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.4(NBN):c.210_211delTA (p.Asp70Glufs) rs786202494
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
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.2134C>A (p.His712Asn) rs781520763
NM_002485.4(NBN):c.2134_2136delCAT (p.His712del) rs786204096
NM_002485.4(NBN):c.2137G>A (p.Ala713Thr) rs1554555795
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.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.4(NBN):c.2151A>G (p.Thr717=) rs760687282
NM_002485.4(NBN):c.2155C>G (p.Leu719Val)
NM_002485.4(NBN):c.2155_2157dupCTA (p.Leu719_Glu720insLeu) rs864622241
NM_002485.4(NBN):c.2158G>A (p.Glu720Lys) rs876660294
NM_002485.4(NBN):c.215C>T (p.Ser72Phe) rs1060503484
NM_002485.4(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.4(NBN):c.2163G>A (p.Glu721=) rs786202747
NM_002485.4(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.4(NBN):c.2167C>A (p.Leu723Ile)
NM_002485.4(NBN):c.2172G>A (p.Arg724=) rs1057523944
NM_002485.4(NBN):c.2179A>G (p.Met727Val) rs1554555732
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2184+8G>C rs730881842
NM_002485.4(NBN):c.2185-1935A>G rs558544629
NM_002485.4(NBN):c.2185-2623A>G rs869312606
NM_002485.4(NBN):c.2185-2624A>G rs543830385
NM_002485.4(NBN):c.2185-7T>C
NM_002485.4(NBN):c.2190A>G (p.Gln730=) rs786203112
NM_002485.4(NBN):c.2191A>T (p.Asn731Tyr) rs369649307
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2197C>G (p.His733Asp)
NM_002485.4(NBN):c.21C>G (p.Ala7=) rs370050587
NM_002485.4(NBN):c.2201C>T (p.Ala734Val) rs751824753
NM_002485.4(NBN):c.2202A>G (p.Ala734=) rs200452212
NM_002485.4(NBN):c.2208_2210delAGA (p.Glu737del) rs1554554251
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2211G>T (p.Glu737Asp) rs753596803
NM_002485.4(NBN):c.2213C>T (p.Ser738Phe) rs876659097
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.2220T>C (p.Ala740=) rs147494981
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.2227_2228delCT (p.Leu743Phefs) rs876659551
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.2234+604C>T rs183379987
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.2235-16A>C rs1405688125
NM_002485.4(NBN):c.2235-18C>T rs138106214
NM_002485.4(NBN):c.2235-3C>T rs1554553897
NM_002485.4(NBN):c.2235-4G>A rs1554553898
NM_002485.4(NBN):c.2235-8C>T rs369037495
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
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.231T>A (p.Phe77Leu) rs1554568336
NM_002485.4(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.4(NBN):c.241G>C (p.Glu81Gln)
NM_002485.4(NBN):c.242A>G (p.Glu81Gly) rs786202085
NM_002485.4(NBN):c.243A>G (p.Glu81=) rs786203921
NM_002485.4(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.4(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.4(NBN):c.248T>A (p.Met83Lys) rs940160589
NM_002485.4(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.4(NBN):c.24G>A (p.Ala8=) rs779543740
NM_002485.4(NBN):c.251A>G (p.Gln84Arg) rs762702597
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.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.266_270dup (p.Leu91Glufs)
NM_002485.4(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.4(NBN):c.268A>G (p.Thr90Ala) rs1554568315
NM_002485.4(NBN):c.275A>G (p.Lys92Arg) rs1554568311
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>T (p.Asp95Tyr) rs61753720
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.28C>A (p.Pro10Thr)
NM_002485.4(NBN):c.296T>A (p.Phe99Tyr) rs1187898389
NM_002485.4(NBN):c.297T>C (p.Phe99=)
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.303G>T (p.Val101=) rs1554568287
NM_002485.4(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.4(NBN):c.306T>C (p.Phe102=) rs1554568276
NM_002485.4(NBN):c.306delT (p.Phe102Leufs) rs587781305
NM_002485.4(NBN):c.310A>G (p.Ser104Gly) rs876658400
NM_002485.4(NBN):c.312T>C (p.Ser104=) rs1554568257
NM_002485.4(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.4(NBN):c.320+1G>A rs1364533250
NM_002485.4(NBN):c.320+2T>G
NM_002485.4(NBN):c.320+5G>T
NM_002485.4(NBN):c.320+6A>G rs757321173
NM_002485.4(NBN):c.320+8A>G rs1057523296
NM_002485.4(NBN):c.321-17C>G rs763878712
NM_002485.4(NBN):c.321-209C>T rs869312609
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.323T>C (p.Ile108Thr) rs775217949
NM_002485.4(NBN):c.327G>A (p.Glu109=) rs1554568031
NM_002485.4(NBN):c.328delT (p.Tyr110Metfs) rs1554568029
NM_002485.4(NBN):c.332A>C (p.Glu111Ala) rs876659320
NM_002485.4(NBN):c.333G>A (p.Glu111=) rs376455714
NM_002485.4(NBN):c.339G>A (p.Leu113=) rs774622977
NM_002485.4(NBN):c.33A>C (p.Ala11=) rs1554569661
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.342T>G (p.Val114=)
NM_002485.4(NBN):c.343G>T (p.Ala115Ser) rs876658434
NM_002485.4(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.4(NBN):c.34G>C (p.Gly12Arg)
NM_002485.4(NBN):c.353_355delCTT (p.Ser118del) rs730881841
NM_002485.4(NBN):c.356G>T (p.Cys119Phe) rs749272832
NM_002485.4(NBN):c.35G>A (p.Gly12Glu) rs730881860
NM_002485.4(NBN):c.360A>G (p.Leu120=)
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.361G>T (p.Asp121Tyr) rs777916019
NM_002485.4(NBN):c.364G>A (p.Val122Ile) rs786203652
NM_002485.4(NBN):c.366C>T (p.Val122=) rs748684665
NM_002485.4(NBN):c.367T>G (p.Ser123Ala) rs786203615
NM_002485.4(NBN):c.36A>C (p.Gly12=) rs1554569658
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+11A>G rs115032431
NM_002485.4(NBN):c.37+12dup
NM_002485.4(NBN):c.37+13G>A rs1275233507
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.379G>A (p.Ala127Thr) rs876658453
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-10T>C rs556807466
NM_002485.4(NBN):c.38-11dup rs752004731
NM_002485.4(NBN):c.38-19A>T rs766849651
NM_002485.4(NBN):c.38-20T>A rs774709748
NM_002485.4(NBN):c.38-20dupT rs757737980
NM_002485.4(NBN):c.38-2A>G
NM_002485.4(NBN):c.38-3C>T
NM_002485.4(NBN):c.38-5C>T rs775244752
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.384A>G (p.Leu128=) rs587780782
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.395T>C (p.Ile132Thr)
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.39A>G (p.Gly13=)
NM_002485.4(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.4(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.4(NBN):c.412T>C (p.Phe138Leu)
NM_002485.4(NBN):c.414T>C (p.Phe138=) rs1554567933
NM_002485.4(NBN):c.415A>C (p.Thr139Pro) rs543852763
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.420A>G (p.Val140=) rs767296279
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)
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.43C>A (p.Pro15Thr)
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.445delC (p.His149Thrfs) rs1554567892
NM_002485.4(NBN):c.451G>T (p.Val151Phe) rs587781549
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>G (p.Pro15=) rs577332041
NM_002485.4(NBN):c.468A>C (p.Lys156Asn) rs730881858
NM_002485.4(NBN):c.473C>A (p.Thr158Asn) rs1271849120
NM_002485.4(NBN):c.474C>T (p.Thr158=)
NM_002485.4(NBN):c.480+15T>C rs1554567838
NM_002485.4(NBN):c.480+248G>A rs869312610
NM_002485.4(NBN):c.480+3A>G rs756817252
NM_002485.4(NBN):c.480+5G>A rs753578226
NM_002485.4(NBN):c.480+8G>A rs777117690
NM_002485.4(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.4(NBN):c.481-18A>G rs587781092
NM_002485.4(NBN):c.481-18_481-17delAT rs778286254
NM_002485.4(NBN):c.481-19C>T
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.481-4G>A rs754864893
NM_002485.4(NBN):c.481-9T>A
NM_002485.4(NBN):c.483A>G (p.Thr161=) rs758276775
NM_002485.4(NBN):c.484A>G (p.Ile162Val) rs750594114
NM_002485.4(NBN):c.486A>G (p.Ile162Met) rs1554566760
NM_002485.4(NBN):c.490G>T (p.Ala164Ser) rs786201252
NM_002485.4(NBN):c.492A>G (p.Ala164=) rs765493509
NM_002485.4(NBN):c.493C>A (p.Leu165Ile) rs776810966
NM_002485.4(NBN):c.495C>G (p.Leu165=) rs764290829
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.509C>T (p.Pro170Leu) rs587782411
NM_002485.4(NBN):c.510A>G (p.Pro170=) rs772311947
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.515T>C (p.Val172Ala) rs1554566701
NM_002485.4(NBN):c.517A>G (p.Lys173Glu)
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.535_537delGAAinsT (p.Glu179Phefs) rs1554566678
NM_002485.4(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.4(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.4(NBN):c.542T>G (p.Leu181Arg)
NM_002485.4(NBN):c.543G>A (p.Leu181=) rs876660833
NM_002485.4(NBN):c.547G>A (p.Ala183Thr) rs151070415
NM_002485.4(NBN):c.549A>T (p.Ala183=) rs780661058
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002485.4(NBN):c.55_56delTT (p.Leu19Aspfs) rs876659305
NM_002485.4(NBN):c.565C>T (p.Gln189Ter) rs1198614767
NM_002485.4(NBN):c.568C>T (p.Pro190Ser) rs1554566620
NM_002485.4(NBN):c.56T>G (p.Leu19Trp) rs749263651
NM_002485.4(NBN):c.573A>C (p.Pro191=)
NM_002485.4(NBN):c.574C>T (p.Gln192Ter) rs1554566613
NM_002485.4(NBN):c.57G>A (p.Leu19=) rs1434720352
NM_002485.4(NBN):c.584+116delG rs1554566559
NM_002485.4(NBN):c.584+3089G>T rs184109078
NM_002485.4(NBN):c.584+3101G>A rs192989840
NM_002485.4(NBN):c.584+3A>G rs587782407
NM_002485.4(NBN):c.584+3dup rs1554566607
NM_002485.4(NBN):c.584+5A>G rs1309889719
NM_002485.4(NBN):c.584+7T>A rs1057523869
NM_002485.4(NBN):c.584+8A>G rs1554566597
NM_002485.4(NBN):c.584+9T>C rs746913991
NM_002485.4(NBN):c.585-13A>G rs980972703
NM_002485.4(NBN):c.585-1_585delGTinsC rs786203662
NM_002485.4(NBN):c.585-43C>T rs374846411
NM_002485.4(NBN):c.588T>C (p.Phe196=) rs745821999
NM_002485.4(NBN):c.591_603delCCCACCTCTTGATinsTTG (p.Pro198Trpfs) 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.596C>T (p.Pro199Leu) rs730881844
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.607C>A (p.Pro203Thr) rs1554564291
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.614T>C (p.Ile205Thr) rs786203215
NM_002485.4(NBN):c.618A>G (p.Gly206=) rs1554564281
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.627T>C (p.Asn209=) rs767520591
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.634C>T (p.Leu212=)
NM_002485.4(NBN):c.63C>T (p.Gly21=) rs1064795458
NM_002485.4(NBN):c.640G>C (p.Gly214Arg) rs1554564269
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.648G>A (p.Gln216=) rs786201883
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.653G>T (p.Arg218Ile) rs786202250
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.658C>G (p.Gln220Glu) rs876659811
NM_002485.4(NBN):c.660A>G (p.Gln220=) rs876658674
NM_002485.4(NBN):c.662T>C (p.Ile221Thr) rs1187082186
NM_002485.4(NBN):c.663C>A (p.Ile221=) rs372705975
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.668A>G (p.Lys223Arg) rs530438634
NM_002485.4(NBN):c.670G>A (p.Gly224Arg)
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.672G>A (p.Gly224=) rs1554564220
NM_002485.4(NBN):c.677C>T (p.Thr226Ile) rs1554564219
NM_002485.4(NBN):c.678A>G (p.Thr226=) rs878854513
NM_002485.4(NBN):c.682A>G (p.Ile228Val) rs1204337347
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.687T>G (p.Phe229Leu) rs876660152
NM_002485.4(NBN):c.692A>G (p.Asn231Ser)
NM_002485.4(NBN):c.696C>T (p.Ala232=) rs566091759
NM_002485.4(NBN):c.698_701delAACA (p.Lys233Serfs) rs587780100
NM_002485.4(NBN):c.69G>A (p.Glu23=) rs876659411
NM_002485.4(NBN):c.702+16G>C rs2272581
NM_002485.4(NBN):c.702+4delA rs1554564199
NM_002485.4(NBN):c.702+84G>C rs104895036
NM_002485.4(NBN):c.702+9G>A rs748373099
NM_002485.4(NBN):c.703-108T>C rs77265692
NM_002485.4(NBN):c.703-14C>T rs1411178267
NM_002485.4(NBN):c.703-17T>C rs1057523604
NM_002485.4(NBN):c.703-18G>A rs769418
NM_002485.4(NBN):c.703-3T>C rs876659566
NM_002485.4(NBN):c.703-8A>T
NM_002485.4(NBN):c.703C>G (p.His235Asp) rs1554564044
NM_002485.4(NBN):c.703C>T (p.His235Tyr) rs1554564044
NM_002485.4(NBN):c.704A>G (p.His235Arg) rs769519885
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.719C>A (p.Ser240Tyr) rs1554564033
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.723A>T (p.Ala241=) rs1554564031
NM_002485.4(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.4(NBN):c.727G>T (p.Val243Phe) rs786203253
NM_002485.4(NBN):c.737G>A (p.Gly246Asp) rs1554564023
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.741G>A (p.Gly247=) rs747021126
NM_002485.4(NBN):c.744A>G (p.Glu248=) rs1554564012
NM_002485.4(NBN):c.750G>A (p.Arg250=) rs758852942
NM_002485.4(NBN):c.750G>T (p.Arg250Ser) rs758852942
NM_002485.4(NBN):c.754A>G (p.Ile252Val) rs587782746
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.75T>G (p.Val25=) rs1000181272
NM_002485.4(NBN):c.75dup (p.Val26Cysfs) rs1199711768
NM_002485.4(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.4(NBN):c.771A>G (p.Glu257=)
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.777A>G (p.Glu259=) rs876660469
NM_002485.4(NBN):c.779A>C (p.His260Pro)
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.786C>G (p.Phe262Leu)
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.793G>A (p.Ala265Thr) rs876658382
NM_002485.4(NBN):c.793G>T (p.Ala265Ser) rs876658382
NM_002485.4(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.4(NBN):c.796C>T (p.Pro266Ser)
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.800dup (p.Thr268Asnfs) rs1554563955
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>C (p.Thr268=) rs141443872
NM_002485.4(NBN):c.808_809delGT (p.Val270Cysfs) rs786202490
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.811G>T (p.Val271Phe) rs876659388
NM_002485.4(NBN):c.814G>A (p.Asp272Asn) rs1554563922
NM_002485.4(NBN):c.817dupA (p.Thr273Asnfs) rs730881839
NM_002485.4(NBN):c.819A>T (p.Thr273=) rs147660518
NM_002485.4(NBN):c.820G>A (p.Gly274Arg) rs540837864
NM_002485.4(NBN):c.826A>G (p.Thr276Ala) rs1554563895
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.829A>G (p.Asn277Asp)
NM_002485.4(NBN):c.82A>G (p.Arg28Gly)
NM_002485.4(NBN):c.830A>G (p.Asn277Ser) rs876658579
NM_002485.4(NBN):c.832T>C (p.Ser278Pro)
NM_002485.4(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.4(NBN):c.83G>A (p.Arg28Lys) rs876658581
NM_002485.4(NBN):c.83_89delGGAAAAA (p.Arg28Thrfs) rs1554569106
NM_002485.4(NBN):c.840C>A (p.Thr280=) rs876659147
NM_002485.4(NBN):c.842T>G rs786205135
NM_002485.4(NBN):c.844dup (p.Ile282Asnfs) rs1554563861
NM_002485.4(NBN):c.845T>C (p.Ile282Thr) rs786202604
NM_002485.4(NBN):c.864A>G (p.Lys288=) rs1554563842
NM_002485.4(NBN):c.866G>T (p.Trp289Leu) rs876660117
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.4(NBN):c.873G>A (p.Gln291=) rs786202939
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)
NM_002485.4(NBN):c.88_89delAA (p.Asn30Leufs) rs587781718
NM_002485.4(NBN):c.891C>T (p.Leu297=) rs1554563793
NM_002485.4(NBN):c.896+13T>C rs376695206
NM_002485.4(NBN):c.896+13T>G rs376695206
NM_002485.4(NBN):c.896+14C>A
NM_002485.4(NBN):c.896+1G>A
NM_002485.4(NBN):c.896+1G>T
NM_002485.4(NBN):c.896+4T>C rs190843577
NM_002485.4(NBN):c.897-10A>G
NM_002485.4(NBN):c.897-18dupA rs957902993
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.897-4A>G rs876659763
NM_002485.4(NBN):c.89A>G (p.Asn30Ser) rs587781450
NM_002485.4(NBN):c.902G>A (p.Gly301Asp) rs749857140
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.917C>G (p.Pro306Arg)
NM_002485.4(NBN):c.917delC (p.Pro306Leufs) rs1554562185
NM_002485.4(NBN):c.91T>C (p.Cys31Arg) rs876658553
NM_002485.4(NBN):c.923C>G (p.Ala308Gly) rs1554562176
NM_002485.4(NBN):c.924A>G (p.Ala308=) rs1554562173
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.930T>A (p.Ile310=) rs142813526
NM_002485.4(NBN):c.930T>C (p.Ile310=) rs142813526
NM_002485.4(NBN):c.932G>A (p.Gly311Glu)
NM_002485.4(NBN):c.935T>C (p.Leu312Ser) rs371480039
NM_002485.4(NBN):c.936G>A (p.Leu312=) rs148517156
NM_002485.4(NBN):c.936G>C (p.Leu312Phe) rs148517156
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.93_94delTG (p.Ala32Hisfs) rs864622253
NM_002485.4(NBN):c.940G>A (p.Val314Met) rs529845940
NM_002485.4(NBN):c.942G>A (p.Val314=) rs749757928
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.954T>A (p.Thr318=) rs1554562137
NM_002485.4(NBN):c.954T>C (p.Thr318=) rs1554562137
NM_002485.4(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.4(NBN):c.958A>G (p.Lys320Glu)
NM_002485.4(NBN):c.966C>T (p.Tyr322=) rs748453607
NM_002485.4(NBN):c.969T>C (p.Cys323=) rs773860553
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.4(NBN):c.977A>G (p.Gln326Arg) rs876659586
NM_002485.4(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.4(NBN):c.986C>T (p.Pro329Leu) rs1386471248
NM_002485.4(NBN):c.992C>G (p.Thr331Arg) rs587782905
NM_002485.4(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.4(NBN):c.994+11C>T
NM_002485.4(NBN):c.994+15A>G rs1282981376
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.994+2090C>G rs869312608
NM_002485.4(NBN):c.994+20A>G rs756077531
NM_002485.4(NBN):c.994+2191G>A rs192117512
NM_002485.4(NBN):c.994+5T>C rs778254433
NM_002485.4(NBN):c.994+9A>G rs559438888
NM_002485.4(NBN):c.995-13G>A rs1329972460
NM_002485.4(NBN):c.995-14T>C
NM_002485.4(NBN):c.995-17A>G rs372875251
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002485.4(NBN):c.995-472A>G rs189181666
NM_002485.4:c.1155dup
NM_002485.4:c.1510_1512del
NM_002485.4:c.2015_2016delCAinsTG
NM_002485.4:c.448delC
NM_002485.4:c.603_605del
NM_002485.4:c.844del

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