NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)
|
rs587781412
|
0.00007
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
0.00005
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
NM_002485.5(NBN):c.509C>T (p.Pro170Leu)
|
rs587782411
|
0.00003
|
NM_002485.5(NBN):c.613A>G (p.Ile205Val)
|
rs730881845
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)
|
rs371480039
|
0.00003
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)
|
rs753270166
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
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.1248G>T (p.Met416Ile)
|
rs756572268
|
0.00001
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)
|
rs878854505
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.1580A>T (p.Asp527Val)
|
rs1554558407
|
0.00001
|
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)
|
rs1586053587
|
0.00001
|
NM_002485.5(NBN):c.171+3A>G
|
rs1487002693
|
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.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg)
|
rs1367898317
|
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.321-3C>T
|
rs751356470
|
0.00001
|
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)
|
rs1060503468
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.490G>T (p.Ala164Ser)
|
rs786201252
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002485.5(NBN):c.703C>T (p.His235Tyr)
|
rs1554564044
|
0.00001
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
NM_002485.5(NBN):c.826A>T (p.Thr276Ser)
|
rs1554563895
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)
|
|
|
NM_002485.5(NBN):c.1029del (p.Gln344fs)
|
|
|
NM_002485.5(NBN):c.1029dup (p.Gln344fs)
|
rs1563539146
|
|
NM_002485.5(NBN):c.105T>G (p.Ile35Met)
|
rs78870221
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)
|
rs1354459986
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
|
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)
|
rs1174990974
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
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.115C>A (p.Gln39Lys)
|
rs377730553
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.1194A>C (p.Gln398His)
|
rs200046373
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
|
|
|
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.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
NM_002485.5(NBN):c.1298del (p.Pro433fs)
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
|
|
|
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
|
|
|
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1397+1dup
|
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1398-1G>A
|
|
|
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
|
|
|
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
|
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
|
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
|
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
|
|
|
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)
|
rs1554558483
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser)
|
rs1563526901
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys)
|
rs1554558445
|
|
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
|
|
|
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)
|
rs545435120
|
|
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
|
rs876658501
|
|
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)
|
rs876658501
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)
|
rs1554558368
|
|
NM_002485.5(NBN):c.1651del (p.Arg551fs)
|
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)
|
rs1064793213
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
|
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1del
|
|
|
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.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1826del (p.Pro609fs)
|
|
|
NM_002485.5(NBN):c.1845+5_1845+8del
|
rs1563524615
|
|
NM_002485.5(NBN):c.188T>A (p.Ile63Asn)
|
rs961554359
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1915-5T>G
|
rs1554556608
|
|
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
|
|
|
NM_002485.5(NBN):c.194T>A (p.Val65Glu)
|
rs1563581457
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
|
|
|
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys)
|
rs1554556522
|
|
NM_002485.5(NBN):c.202T>G (p.Leu68Val)
|
rs1200599843
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
|
|
|
NM_002485.5(NBN):c.2051del (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser)
|
rs1181142133
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
NM_002485.5(NBN):c.2070+5G>A
|
rs1323512485
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.2101C>T (p.His701Tyr)
|
rs587781567
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
|
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2185-3C>T
|
rs1809726732
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2210A>T (p.Glu737Val)
|
rs1554554247
|
|
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)
|
rs767523514
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.241del (p.Glu81fs)
|
|
|
NM_002485.5(NBN):c.247A>G (p.Met83Val)
|
rs955258267
|
|
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
|
rs955258267
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)
|
rs878854511
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
|
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)
|
rs1586107038
|
|
NM_002485.5(NBN):c.392C>G (p.Ala131Gly)
|
rs1469136096
|
|
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
|
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.480+1G>A
|
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.523G>C (p.Glu175Gln)
|
rs730881861
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)
|
rs876661071
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)
|
rs951997505
|
|
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)
|
rs587780098
|
|
NM_002485.5(NBN):c.655A>C (p.Lys219Gln)
|
rs730881846
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.704A>C (p.His235Pro)
|
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.782del (p.Asn261fs)
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.882G>C (p.Met294Ile)
|
rs1811450172
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
|
|
|
NM_002485.5(NBN):c.897G>T (p.Arg299Ser)
|
rs779798363
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
|
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.966C>A (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.994+1G>A
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.99T>G (p.Ile33Met)
|
rs1172365532
|
|