NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
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.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
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
|
NC_000008.10:g.(?_90947810)_(90960130_?)del
|
|
|
NC_000008.10:g.(?_90955471)_(90958533_?)del
|
|
|
NC_000008.10:g.(?_90955471)_(90983528_?)dup
|
|
|
NC_000008.10:g.(?_90965634)_(90971364_?)del
|
|
|
NC_000008.10:g.(?_90970943)_(90971092_?)dup
|
|
|
NC_000008.10:g.(?_90992952)_(90993761_?)del
|
|
|
NC_000008.11:g.(?_89935576)_(89937081_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89937085_?)del
|
|
|
NC_000008.11:g.(?_89946130)_(89946305_?)del
|
|
|
NC_000008.11:g.(?_89978210)_(89980903_?)del
|
|
|
NM_002485.4(NBN):c.2185-?_*(1_?)del
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1124+1G>A
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+1G>C
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+2T>G
|
rs1554560352
|
|
NM_002485.5(NBN):c.1125-1G>A
|
rs1057517102
|
|
NM_002485.5(NBN):c.1125-1G>C
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)
|
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1_1397+3delinsACA
|
|
|
NM_002485.5(NBN):c.1397+1_1397+9del
|
rs2129716262
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1398-2A>G
|
rs2129704501
|
|
NM_002485.5(NBN):c.144_145del (p.Leu48fs)
|
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)
|
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)
|
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)
|
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>C
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>T
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1G>A
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-1G>T
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-2A>T
|
rs2129916685
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1767del (p.Arg590fs)
|
|
|
NM_002485.5(NBN):c.178dup (p.Thr60fs)
|
rs1057516392
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1845+1G>A
|
rs2129695663
|
|
NM_002485.5(NBN):c.1845+2T>C
|
rs1586052622
|
|
NM_002485.5(NBN):c.1845+2T>G
|
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-1G>T
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-726_1895del
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1896del (p.Trp632fs)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1911_1914+1del
|
rs1554556880
|
|
NM_002485.5(NBN):c.1914+1G>T
|
|
|
NM_002485.5(NBN):c.1914+2T>G
|
rs2129659522
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.1923del (p.Asp641fs)
|
|
|
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)
|
|
|
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)
|
rs1057516869
|
|
NM_002485.5(NBN):c.2051dup (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+1G>T
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+2T>A
|
rs786203223
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>T
|
|
|
NM_002485.5(NBN):c.2071-2A>C
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>G
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>T
|
|
|
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs)
|
rs1554555782
|
|
NM_002485.5(NBN):c.2127dup (p.Ala710fs)
|
|
|
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs)
|
rs2130755743
|
|
NM_002485.5(NBN):c.2132_2133del (p.His711fs)
|
rs2130755717
|
|
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs)
|
rs2130755572
|
|
NM_002485.5(NBN):c.2144dup (p.Asn716fs)
|
rs1810033982
|
|
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs)
|
rs2130755422
|
|
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs)
|
rs2130755457
|
|
NM_002485.5(NBN):c.2155_2156del (p.Leu719fs)
|
|
|
NM_002485.5(NBN):c.2160dup (p.Glu721fs)
|
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2173del (p.Gln725fs)
|
rs2130755261
|
|
NM_002485.5(NBN):c.2184+1G>A
|
rs756363734
|
|
NM_002485.5(NBN):c.2184+2T>A
|
rs75823099
|
|
NM_002485.5(NBN):c.2184+2T>G
|
rs75823099
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2187dup (p.Gln730fs)
|
rs2130739402
|
|
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)
|
rs1554554265
|
|
NM_002485.5(NBN):c.2226_2234+4del
|
rs1563497529
|
|
NM_002485.5(NBN):c.2234+1G>A
|
rs1586024147
|
|
NM_002485.5(NBN):c.2234+1G>T
|
rs1586024147
|
|
NM_002485.5(NBN):c.2235-2A>G
|
rs767094704
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)
|
|
|
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)
|
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
NM_002485.5(NBN):c.321-1G>A
|
|
|
NM_002485.5(NBN):c.321-2A>G
|
rs587777931
|
|
NM_002485.5(NBN):c.35_37+10del
|
rs781710700
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)
|
rs1554567960
|
|
NM_002485.5(NBN):c.432del (p.Glu145fs)
|
rs1554567902
|
|
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)
|
|
|
NM_002485.5(NBN):c.480+2T>G
|
|
|
NM_002485.5(NBN):c.530_531del (p.Phe177fs)
|
|
|
NM_002485.5(NBN):c.531del (p.Phe177fs)
|
rs1057516787
|
|
NM_002485.5(NBN):c.584+1G>A
|
rs1811862598
|
|
NM_002485.5(NBN):c.584+1G>T
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1G>A
|
rs1394578008
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.589del (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.590dup (p.Tyr197Ter)
|
rs1554564309
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>T
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1del
|
rs1586088347
|
|
NM_002485.5(NBN):c.702+2T>A
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2del
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
|
|
|
NM_002485.5(NBN):c.803del (p.Thr268fs)
|
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+1G>T
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.897-1G>A
|
rs1586076299
|
|
NM_002485.5(NBN):c.897-2A>G
|
rs864622090
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.962dup (p.Asn321fs)
|
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+2T>C
|
rs1586075690
|
|
NM_002485.5(NBN):c.995-1G>C
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-1G>T
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-2A>C
|
rs876659521
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)
|
rs2129747182
|
|