NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
0.00003
|
NM_000553.6(WRN):c.724+515A>G
|
rs191078968
|
0.00003
|
NM_000553.6(WRN):c.1578del (p.Leu528fs)
|
rs780555196
|
0.00002
|
NM_000553.6(WRN):c.210-1G>A
|
rs758988621
|
0.00002
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
NM_000553.6(WRN):c.3819+1G>A
|
rs748618811
|
0.00002
|
NM_000553.6(WRN):c.1351-1G>A
|
rs1170732591
|
0.00001
|
NM_000553.6(WRN):c.1431+2T>C
|
rs1455462438
|
0.00001
|
NM_000553.6(WRN):c.1576+1G>A
|
rs2535924832
|
0.00001
|
NM_000553.6(WRN):c.1652+1G>A
|
rs777096501
|
0.00001
|
NM_000553.6(WRN):c.1653-2A>T
|
rs1434118877
|
0.00001
|
NM_000553.6(WRN):c.1829+5G>A
|
rs751015040
|
0.00001
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
0.00001
|
NM_000553.6(WRN):c.1899-2A>T
|
rs1175230246
|
0.00001
|
NM_000553.6(WRN):c.209+5G>A
|
rs754208761
|
0.00001
|
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)
|
rs761240520
|
0.00001
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)
|
rs1319491415
|
0.00001
|
NM_000553.6(WRN):c.3309+1G>A
|
rs1281075870
|
0.00001
|
NM_000553.6(WRN):c.3384-1G>A
|
rs776963381
|
0.00001
|
NM_000553.6(WRN):c.3460-1G>A
|
rs1802899166
|
0.00001
|
NM_000553.6(WRN):c.3460-7T>A
|
rs1334937558
|
0.00001
|
NM_000553.6(WRN):c.355+1G>T
|
rs775196937
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3820-2A>G
|
rs759685032
|
0.00001
|
NM_000553.6(WRN):c.3983-1G>T
|
rs752465293
|
0.00001
|
NM_000553.6(WRN):c.4191+1G>A
|
rs1279354218
|
0.00001
|
NM_000553.6(WRN):c.504+1G>T
|
rs1163988347
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000553.6(WRN):c.725-1G>A
|
rs377215256
|
0.00001
|
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)
|
rs1198210848
|
0.00001
|
NM_000553.6(WRN):c.96+1G>T
|
rs1258953831
|
0.00001
|
NM_000553.6(WRN):c.97-1G>A
|
rs780988648
|
0.00001
|
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
|
|
|
NC_000008.10:g.(?_30941261)_(30947513_?)del
|
|
|
NC_000008.10:g.(?_30941261)_(30947629_?)del
|
|
|
NC_000008.10:g.(?_30966107)_(30974054_?)del
|
|
|
NC_000008.10:g.(?_30969285)_(30975255_?)del
|
|
|
NC_000008.10:g.(?_30977883)_(31003833_?)del
|
|
|
NC_000008.10:g.(?_30981889)_(30989970_?)del
|
|
|
NC_000008.10:g.(?_30989976)_(30998629_?)del
|
|
|
NC_000008.10:g.(?_31007847)_(31024756_?)del
|
|
|
NC_000008.10:g.(?_31012248)_(31013983_?)del
|
|
|
NC_000008.11:g.(?_31111605)_(31132516_?)del
|
|
|
NC_000008.11:g.(?_31150335)_(31167236_?)del
|
|
|
NC_000008.11:g.31059257_31099267del
|
|
|
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)
|
rs2130118911
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000553.6(WRN):c.111G>C (p.Lys37Asn)
|
rs771433734
|
|
NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs)
|
rs2535911171
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
rs2535911235
|
|
NM_000553.6(WRN):c.1175del (p.Cys391_Leu392insTer)
|
rs2535911241
|
|
NM_000553.6(WRN):c.1229dup (p.Glu411fs)
|
rs1563339062
|
|
NM_000553.6(WRN):c.1270-1G>A
|
|
|
NM_000553.6(WRN):c.1283del (p.Asn428fs)
|
|
|
NM_000553.6(WRN):c.1350+1G>A
|
rs752202315
|
|
NM_000553.6(WRN):c.1350+1G>C
|
rs752202315
|
|
NM_000553.6(WRN):c.1350+1G>T
|
rs752202315
|
|
NM_000553.6(WRN):c.1351-1_1351delinsTT
|
rs1813480415
|
|
NM_000553.6(WRN):c.1351-2A>G
|
rs1563341296
|
|
NM_000553.6(WRN):c.1362del (p.Asn455fs)
|
rs2535919253
|
|
NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)
|
rs2130140321
|
|
NM_000553.6(WRN):c.1432-2A>G
|
rs1389423879
|
|
NM_000553.6(WRN):c.1432-2A>T
|
rs1389423879
|
|
NM_000553.6(WRN):c.1432-2_1433del
|
rs2535923881
|
|
NM_000553.6(WRN):c.1511del (p.Pro504fs)
|
rs2535924290
|
|
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)
|
rs1408863821
|
|
NM_000553.6(WRN):c.1576+1G>T
|
rs2535924832
|
|
NM_000553.6(WRN):c.1576+1dup
|
rs2130157703
|
|
NM_000553.6(WRN):c.1577-2A>G
|
rs2535926992
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
|
rs2535927271
|
|
NM_000553.6(WRN):c.1653-2A>G
|
rs1434118877
|
|
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)
|
rs2130170949
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1689_1695del (p.Arg564fs)
|
rs2535930302
|
|
NM_000553.6(WRN):c.1720+1G>C
|
rs2535930484
|
|
NM_000553.6(WRN):c.1720+1G>T
|
rs2535930484
|
|
NM_000553.6(WRN):c.1720+5G>A
|
rs1813707238
|
|
NM_000553.6(WRN):c.1721-1G>A
|
rs2535931386
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
rs1585440764
|
|
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
|
rs1813725009
|
|
NM_000553.6(WRN):c.1829+2T>C
|
rs2535931905
|
|
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)
|
rs2535934098
|
|
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)
|
rs2130178752
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
rs1813759748
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1981+1G>A
|
rs1814007969
|
|
NM_000553.6(WRN):c.1981+1G>C
|
rs1814007969
|
|
NM_000553.6(WRN):c.1982-2A>G
|
rs1563351045
|
|
NM_000553.6(WRN):c.1993dup (p.Ile665fs)
|
rs1814195192
|
|
NM_000553.6(WRN):c.2017dup (p.Ile673fs)
|
rs1814197375
|
|
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer)
|
rs2130229490
|
|
NM_000553.6(WRN):c.2040del (p.Phe680fs)
|
rs2535950915
|
|
NM_000553.6(WRN):c.2088+1G>T
|
rs2535951148
|
|
NM_000553.6(WRN):c.2089-1G>C
|
rs2130282582
|
|
NM_000553.6(WRN):c.2089-3024A>G
|
rs281865157
|
|
NM_000553.6(WRN):c.209+2_209+7delinsAA
|
rs2487270254
|
|
NM_000553.6(WRN):c.2118_2119del (p.Ser707fs)
|
rs762855622
|
|
NM_000553.6(WRN):c.2164_2171del (p.Asn722fs)
|
rs2535968881
|
|
NM_000553.6(WRN):c.2245_2448+1213del
|
|
|
NM_000553.6(WRN):c.2273+1G>A
|
rs2130284894
|
|
NM_000553.6(WRN):c.2273+2T>C
|
rs2535969504
|
|
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)
|
rs2535978167
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.230dup (p.Asp77fs)
|
rs2535880725
|
|
NM_000553.6(WRN):c.2345del (p.Gly782fs)
|
rs1585478303
|
|
NM_000553.6(WRN):c.2448+1G>A
|
rs2130306367
|
|
NM_000553.6(WRN):c.2448+1_2448+2insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGAAATTCAGG
|
rs2130306240
|
|
NM_000553.6(WRN):c.2449-2A>C
|
rs1585483030
|
|
NM_000553.6(WRN):c.2449-3_2449-2del
|
rs2535986164
|
|
NM_000553.6(WRN):c.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.254_258dup (p.Pro87fs)
|
rs2535880796
|
|
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)
|
rs2535986999
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)
|
rs2535995120
|
|
NM_000553.6(WRN):c.2732+1G>A
|
rs1047229701
|
|
NM_000553.6(WRN):c.2732+1G>C
|
rs1047229701
|
|
NM_000553.6(WRN):c.2732+1G>T
|
|
|
NM_000553.6(WRN):c.2733-1G>A
|
rs754056304
|
|
NM_000553.6(WRN):c.2733-1_2733del
|
rs1801859348
|
|
NM_000553.6(WRN):c.2826-1G>C
|
rs756880457
|
|
NM_000553.6(WRN):c.2856dup (p.Glu953fs)
|
rs2536012100
|
|
NM_000553.6(WRN):c.2872del (p.Asp958fs)
|
rs2536012185
|
|
NM_000553.6(WRN):c.2922_2968-316del
|
|
|
NM_000553.6(WRN):c.2932G>T (p.Gly978Ter)
|
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.2967+1G>A
|
rs1474054365
|
|
NM_000553.6(WRN):c.2967+2T>C
|
|
|
NM_000553.6(WRN):c.2968-1G>A
|
rs1300106191
|
|
NM_000553.6(WRN):c.2968-1G>C
|
rs1300106191
|
|
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)
|
rs1563376347
|
|
NM_000553.6(WRN):c.3138+2T>G
|
|
|
NM_000553.6(WRN):c.3233+1G>C
|
rs1563376793
|
|
NM_000553.6(WRN):c.3234-1G>A
|
rs866300270
|
|
NM_000553.6(WRN):c.3234-2A>C
|
rs1554533006
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.3260_3261del (p.Lys1087fs)
|
|
|
NM_000553.6(WRN):c.3309+1G>T
|
rs1281075870
|
|
NM_000553.6(WRN):c.3309+2T>G
|
rs2536033601
|
|
NM_000553.6(WRN):c.3319del (p.Glu1107fs)
|
rs2536035612
|
|
NM_000553.6(WRN):c.3381_3383+76del
|
rs1585517902
|
|
NM_000553.6(WRN):c.3382del (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3383+1G>A
|
rs1413656527
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3459+1G>A
|
rs1241888415
|
|
NM_000553.6(WRN):c.3459+2T>G
|
rs2130439413
|
|
NM_000553.6(WRN):c.3460-1G>C
|
rs1802899166
|
|
NM_000553.6(WRN):c.3460-2A>G
|
rs281865159
|
|
NM_000553.6(WRN):c.34C>T (p.Gln12Ter)
|
rs2130000832
|
|
NM_000553.6(WRN):c.3511del (p.Met1171fs)
|
rs2536043142
|
|
NM_000553.6(WRN):c.356-2A>G
|
rs780068269
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.3637del (p.Ala1213fs)
|
rs2536049676
|
|
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)
|
rs1803078013
|
|
NM_000553.6(WRN):c.3687+2T>C
|
rs2536049982
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000553.6(WRN):c.3700del (p.Ser1234fs)
|
|
|
NM_000553.6(WRN):c.3711del (p.Lys1237fs)
|
rs1563385391
|
|
NM_000553.6(WRN):c.3726del (p.Lys1243fs)
|
rs2130469991
|
|
NM_000553.6(WRN):c.3819+1G>C
|
rs748618811
|
|
NM_000553.6(WRN):c.3820-1G>A
|
rs1803425342
|
|
NM_000553.6(WRN):c.3820-2A>C
|
rs759685032
|
|
NM_000553.6(WRN):c.3892_3893dup (p.Cys1299fs)
|
|
|
NM_000553.6(WRN):c.3972del (p.Val1325fs)
|
rs1377977559
|
|
NM_000553.6(WRN):c.3982+1G>A
|
rs1381370500
|
|
NM_000553.6(WRN):c.3982+1G>C
|
rs1381370500
|
|
NM_000553.6(WRN):c.3982+1G>T
|
rs1381370500
|
|
NM_000553.6(WRN):c.3983-2A>G
|
rs2536080997
|
|
NM_000553.6(WRN):c.39_40dup (p.Lys14fs)
|
rs2487266223
|
|
NM_000553.6(WRN):c.4109del (p.Asn1370fs)
|
rs748089844
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
rs774007667
|
|
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)
|
rs2130515044
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
rs1585409238
|
|
NM_000553.6(WRN):c.487_488del (p.Asp163fs)
|
rs797045118
|
|
NM_000553.6(WRN):c.504+1G>A
|
rs1163988347
|
|
NM_000553.6(WRN):c.505-1G>A
|
rs1415757819
|
|
NM_000553.6(WRN):c.505-2A>G
|
rs2130048793
|
|
NM_000553.6(WRN):c.539_543del (p.Leu180fs)
|
rs2535887104
|
|
NM_000553.6(WRN):c.554T>A (p.Leu185Ter)
|
rs1563331288
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.599G>A (p.Trp200Ter)
|
rs2535887383
|
|
NM_000553.6(WRN):c.654+2T>C
|
rs2535887580
|
|
NM_000553.6(WRN):c.724+513A>G
|
rs2535890221
|
|
NM_000553.6(WRN):c.724G>C (p.Glu242Gln)
|
rs769959338
|
|
NM_000553.6(WRN):c.724_724+3del
|
rs1554519449
|
|
NM_000553.6(WRN):c.725-1G>C
|
rs377215256
|
|
NM_000553.6(WRN):c.725-2A>C
|
|
|
NM_000553.6(WRN):c.725-2A>G
|
rs2535901752
|
|
NM_000553.6(WRN):c.838del (p.Arg280fs)
|
rs2535902178
|
|
NM_000553.6(WRN):c.839+1G>A
|
rs2130095451
|
|
NM_000553.6(WRN):c.840-1G>C
|
rs1395775047
|
|
NM_000553.6(WRN):c.840-2A>T
|
rs2535909385
|
|
NM_000553.6(WRN):c.851_852insTA (p.Leu284fs)
|
|
|
NM_000553.6(WRN):c.859del (p.Asp287fs)
|
rs1585427471
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000553.6(WRN):c.96+1G>A
|
rs1258953831
|
|
NM_000553.6(WRN):c.96+1del
|
rs755891046
|
|
NM_000553.6(WRN):c.968C>G (p.Ser323Ter)
|
rs369277330
|
|
NM_000553.6(WRN):c.985C>T (p.Gln329Ter)
|
rs1813285283
|
|