|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
|
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)
|
rs1394437421
|
0.00001
|
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
|
NC_000008.10:g.(?_90955471)_(90976745_?)del
|
|
|
|
NC_000008.10:g.(?_90958358)_(90960130_?)del
|
|
|
|
NC_000008.10:g.(?_90960042)_(90976745_?)del
|
|
|
|
NC_000008.10:g.(?_90982582)_(90990561_?)del
|
|
|
|
NC_000008.10:g.(?_90990438)_(90990561_?)del
|
|
|
|
NC_000008.10:g.(?_90996743)_(90996789_?)del
|
|
|
|
NC_000008.11:g.(?_89921080)_(89984561_?)del
|
|
|
|
NC_000008.11:g.(?_89935572)_(89984571_?)del
|
|
|
|
NC_000008.11:g.(?_89935576)_(89981529_?)del
|
|
|
|
NC_000008.11:g.(?_89935582)_(89984561_?)del
|
|
|
|
NC_000008.11:g.(?_89978210)_(89984571_?)del
|
|
|
|
NC_000008.11:g.(?_89980724)_(89984571_?)del
|
|
|
|
NC_000008.11:g.(?_89980734)_(89984671_?)del
|
|
|
|
NC_000008.11:g.89955556del
|
rs2129722387
|
|
|
NM_002485.4(NBN):c.897-?_2184+?del
|
|
|
|
NM_002485.4(NBN):c.[1030C>T];[842T>G]
|
|
|
|
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)
|
rs1810856747
|
|
|
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs)
|
rs1554560432
|
|
|
NM_002485.5(NBN):c.1044del (p.Asp349fs)
|
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
|
NM_002485.5(NBN):c.1071dup (p.Val358fs)
|
rs2129745554
|
|
|
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer)
|
rs2129745511
|
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
|
NM_002485.5(NBN):c.1107dup (p.Glu370fs)
|
rs2129744712
|
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
|
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA (p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129925072
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
|
NM_002485.5(NBN):c.1146del (p.Glu383fs)
|
rs1586059584
|
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
|
NM_002485.5(NBN):c.1165dup (p.Met389fs)
|
rs2129721709
|
|
|
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)
|
rs2129721628
|
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
|
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)
|
rs1554559308
|
|
|
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)
|
rs2129721263
|
|
|
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs)
|
rs1810667631
|
|
|
NM_002485.5(NBN):c.1203del (p.Thr402fs)
|
|
|
|
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)
|
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
|
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)
|
rs1554559212
|
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
|
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
|
|
|
|
NM_002485.5(NBN):c.1314del (p.Ser438fs)
|
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
|
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)
|
rs1586058444
|
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
|
NM_002485.5(NBN):c.1362dup (p.Ile455fs)
|
rs2129717307
|
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
|
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)
|
|
|
|
NM_002485.5(NBN):c.1377dup (p.Gln460fs)
|
rs1554559028
|
|
|
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)
|
rs1563530658
|
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
|
NM_002485.5(NBN):c.1405del (p.Asp469fs)
|
rs2129704309
|
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
|
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)
|
|
|
|
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)
|
rs2129924518
|
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
|
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)
|
rs1586054483
|
|
|
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)
|
|
|
|
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs)
|
rs1586054483
|
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
|
NM_002485.5(NBN):c.1488_1491dup (p.Pro498fs)
|
|
|
|
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)
|
rs772411713
|
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
|
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)
|
rs876658535
|
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
|
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer)
|
rs1563526747
|
|
|
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
|
|
|
|
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)
|
rs1060503480
|
|
|
NM_002485.5(NBN):c.1554del (p.Asp519fs)
|
rs2129701175
|
|
|
NM_002485.5(NBN):c.1554dup (p.Asp519fs)
|
rs1554558423
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)
|
|
|
|
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)
|
rs2129700612
|
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
|
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer)
|
rs2129699105
|
|
|
NM_002485.5(NBN):c.1644dup (p.Lys549Ter)
|
rs2129699596
|
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
|
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs)
|
rs766044684
|
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
|
NM_002485.5(NBN):c.1675dup (p.Glu559fs)
|
rs1563525678
|
|
|
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)
|
rs1586053399
|
|
|
NM_002485.5(NBN):c.1693_1694del (p.Gln565fs)
|
|
|
|
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)
|
rs1279184426
|
|
|
NM_002485.5(NBN):c.1697dup (p.Leu566fs)
|
rs1586053378
|
|
|
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer)
|
rs1810527499
|
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
|
NM_002485.5(NBN):c.1726del (p.Ile576fs)
|
|
|
|
NM_002485.5(NBN):c.1737del (p.Val580fs)
|
rs1563525210
|
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
|
NM_002485.5(NBN):c.1747dup (p.Gln583fs)
|
rs1810529464
|
|
|
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)
|
rs1554558270
|
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
|
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC (p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129696816
|
|
|
NM_002485.5(NBN):c.177_180del (p.Thr60fs)
|
|
|
|
NM_002485.5(NBN):c.1780del (p.Arg594fs)
|
rs1586052920
|
|
|
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)
|
rs1586052851
|
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
|
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)
|
rs1554558199
|
|
|
NM_002485.5(NBN):c.183del (p.Asp61fs)
|
rs587782147
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
|
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)
|
rs766602873
|
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
|
NM_002485.5(NBN):c.1860del (p.Ile620fs)
|
rs1810270891
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
|
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)
|
rs1810267412
|
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
|
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)
|
rs2129659855
|
|
|
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
|
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
|
NM_002485.5(NBN):c.1912del (p.Ser638fs)
|
|
|
|
NM_002485.5(NBN):c.1923dup (p.Lys642fs)
|
|
|
|
NM_002485.5(NBN):c.1939del (p.Ser647fs)
|
rs2129648967
|
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
|
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)
|
rs1810183784
|
|
|
NM_002485.5(NBN):c.1986_2001del (p.Val663fs)
|
rs2129647483
|
|
|
NM_002485.5(NBN):c.1992dup (p.Lys665Ter)
|
rs2129647777
|
|
|
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)
|
rs1554556544
|
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
|
NM_002485.5(NBN):c.2007del (p.Arg670fs)
|
|
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
|
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)
|
rs1554556485
|
|
|
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)
|
rs786203920
|
|
|
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)
|
rs2130763590
|
|
|
NM_002485.5(NBN):c.205_212del (p.Lys69fs)
|
rs2129915884
|
|
|
NM_002485.5(NBN):c.2069del (p.Lys690fs)
|
|
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
|
NM_002485.5(NBN):c.2077dup (p.Tyr693fs)
|
|
|
|
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)
|
rs1554555835
|
|
|
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)
|
rs1038132485
|
|
|
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs)
|
rs2129915990
|
|
|
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs)
|
rs2130756068
|
|
|
NM_002485.5(NBN):c.2097_2098insA (p.Pro700fs)
|
|
|
|
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
|
|
|
|
NM_002485.5(NBN):c.2099del (p.Pro700fs)
|
rs1301956720
|
|
|
NM_002485.5(NBN):c.2102del (p.His701fs)
|
rs1810038215
|
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
|
NM_002485.5(NBN):c.210_211dup (p.Asn71fs)
|
rs786202494
|
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
|
NM_002485.5(NBN):c.2139_2140delinsCT (p.Arg714Ter)
|
|
|
|
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs)
|
rs1810034093
|
|
|
NM_002485.5(NBN):c.2140del (p.Arg714fs)
|
rs1810034741
|
|
|
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs)
|
rs1810033651
|
|
|
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
|
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NM_002485.5(NBN):c.2152del (p.Glu718fs)
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NM_002485.5(NBN):c.2156_2157insTT (p.Leu719_Glu720insTer)
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NM_002485.5(NBN):c.2156dup (p.Glu720fs)
|
rs1586035111
|
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NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
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NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)
|
rs786204181
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NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
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NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer)
|
rs2130755275
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NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)
|
rs1810030774
|
|
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NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
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NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)
|
rs1554554267
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NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)
|
rs1563581193
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NM_002485.5(NBN):c.226dup (p.Thr76fs)
|
rs1554568340
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NM_002485.5(NBN):c.228_231dup (p.Val78fs)
|
rs2129915522
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NM_002485.5(NBN):c.231dup (p.Val78fs)
|
rs1586108827
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NM_002485.5(NBN):c.241G>T (p.Glu81Ter)
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rs1064795037
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NM_002485.5(NBN):c.247dup (p.Met83fs)
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NM_002485.5(NBN):c.250C>T (p.Gln84Ter)
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rs1586108714
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NM_002485.5(NBN):c.269del (p.Thr90fs)
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NM_002485.5(NBN):c.26del (p.Gly9fs)
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rs1060503485
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NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
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NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
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NM_002485.5(NBN):c.283del (p.Asp95fs)
|
rs2129914556
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NM_002485.5(NBN):c.292dup (p.Thr98fs)
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NM_002485.5(NBN):c.298G>T (p.Gly100Ter)
|
rs2129914287
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NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
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NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
|
NM_002485.5(NBN):c.330dup (p.Glu111Ter)
|
rs2129910887
|
|
|
NM_002485.5(NBN):c.335del (p.Pro112fs)
|
rs2129910740
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NM_002485.5(NBN):c.352del (p.Ser118fs)
|
rs2129910401
|
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NM_002485.5(NBN):c.353del (p.Ser118fs)
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NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
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NM_002485.5(NBN):c.377del (p.Thr126fs)
|
rs1554567972
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NM_002485.5(NBN):c.38-12A>G
|
rs773524364
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NM_002485.5(NBN):c.383T>G (p.Leu128Ter)
|
rs1060503463
|
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NM_002485.5(NBN):c.393_400del (p.Ile132fs)
|
rs2129909528
|
|
|
NM_002485.5(NBN):c.407dup (p.Gly137fs)
|
rs747462107
|
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
|
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)
|
rs1812023357
|
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
|
NM_002485.5(NBN):c.448del (p.Val151fs)
|
rs1563578727
|
|
|
NM_002485.5(NBN):c.468del (p.Val157fs)
|
rs1563578596
|
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
|
NM_002485.5(NBN):c.481-2A>C
|
rs751567476
|
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
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|
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)
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|
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)
|
rs2129926091
|
|
|
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer)
|
|
|
|
NM_002485.5(NBN):c.492dup (p.Leu165fs)
|
rs1586101609
|
|
|
NM_002485.5(NBN):c.496_512del (p.Ile166fs)
|
rs758830069
|
|
|
NM_002485.5(NBN):c.499dup (p.Cys167fs)
|
rs1586101561
|
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
|
NM_002485.5(NBN):c.520_521insT (p.Pro174fs)
|
rs2129889298
|
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
|
NM_002485.5(NBN):c.548del (p.Ala183fs)
|
|
|
|
NM_002485.5(NBN):c.552_556del (p.Glu185fs)
|
rs2129888420
|
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
|
NM_002485.5(NBN):c.565del (p.Gln189fs)
|
rs1811864250
|
|
|
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer)
|
rs876659305
|
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
|
NM_002485.5(NBN):c.580del (p.Glu194fs)
|
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
|
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)
|
rs1812244679
|
|
|
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)
|
rs1811506628
|
|
|
NM_002485.5(NBN):c.626del (p.Asn209fs)
|
rs2129838943
|
|
|
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)
|
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTATATATAAAATATAATAAAGAAAACATTATATA (p.Lys223delinsIleTyrIlePheIleIleTer)
|
|
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
|
NM_002485.5(NBN):c.68del (p.Glu23fs)
|
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)
|
rs876661130
|
|
|
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)
|
|
|
|
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATTGAGTTCCG (p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer)
|
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
|
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)
|
rs1811464271
|
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
|
NM_002485.5(NBN):c.765_801del (p.Asn256fs)
|
rs2129829309
|
|
|
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter)
|
rs2129829803
|
|
|
NM_002485.5(NBN):c.78dup (p.Gly27fs)
|
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
|
NM_002485.5(NBN):c.830del (p.Asn277fs)
|
|
|
|
NM_002485.5(NBN):c.832_835del (p.Ser278fs)
|
|
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
|
NM_002485.5(NBN):c.836del (p.Gln279fs)
|
rs1554563878
|
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
|
NM_002485.5(NBN):c.851_854del (p.Asp284fs)
|
rs2129827880
|
|
|
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)
|
|
|
|
NM_002485.5(NBN):c.857dup (p.Lys287fs)
|
|
|
|
NM_002485.5(NBN):c.864del (p.Lys288fs)
|
|
|
|
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)
|
rs1554563822
|
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
|
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)
|
|
|
|
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer)
|
rs1811450828
|
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
|
NM_002485.5(NBN):c.911del (p.Pro304fs)
|
rs1563549036
|
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
|
NM_002485.5(NBN):c.93_96dup (p.Ile33fs)
|
rs2129925355
|
|
|
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)
|
rs748453607
|
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
|
NM_002485.5(NBN):c.979_980del (p.Gly327fs)
|
|
|
|
NM_002485.5(NBN):c.992_994+3del
|
rs1563548315
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|