NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)
|
rs1564723449
|
0.00004
|
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)
|
rs104894182
|
0.00002
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp)
|
rs746365230
|
0.00001
|
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)
|
rs28933376
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr)
|
rs776657932
|
0.00001
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)
|
rs763002067
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
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.2234+2T>G
|
rs142301194
|
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_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
|
|
|
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
|
|
|
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
|
|
|
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
|
|
|
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
|
|
|
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
|
|
|
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
|
|
|
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
|
|
|
NM_001083116.3(PRF1):c.539+2T>A
|
|
|
NM_001083116.3(PRF1):c.563dup (p.Leu189fs)
|
rs1454231642
|
|
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
|
|
|
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
|
|
|
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.1104dup (p.Ser369fs)
|
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
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.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.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+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.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
|
|
|
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.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.1565T>A (p.Leu522Ter)
|
|
|
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1651del (p.Arg551fs)
|
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1del
|
|
|
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.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
|
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2051del (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
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.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.241del (p.Glu81fs)
|
|
|
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.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.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.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
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.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
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.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
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_002641.4(PIGA):c.986T>C (p.Val329Ala)
|
rs1921924356
|
|
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
|
|
|
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
|
|
|
NM_016038.4(SBDS):c.128+1G>A
|
|
|
NM_016038.4(SBDS):c.129-2A>C
|
|
|
NM_016038.4(SBDS):c.129-71_140del
|
|
|
NM_016038.4(SBDS):c.259-2A>C
|
|
|
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
|
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016038.4(SBDS):c.523del (p.Arg175fs)
|
|
|
NM_016038.4(SBDS):c.624+1G>A
|
|
|
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)
|
rs757497272
|
|
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys)
|
rs1131691842
|
|
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)
|
rs373730800
|
|