NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
0.00003
|
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.3460-7T>A
|
rs1334937558
|
0.00002
|
NM_000553.6(WRN):c.3819+1G>A
|
rs748618811
|
0.00002
|
NM_000553.6(WRN):c.3820-2A>G
|
rs759685032
|
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.1652+1G>A
|
rs777096501
|
0.00001
|
NM_000553.6(WRN):c.1829+5G>A
|
rs751015040
|
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.3042G>A (p.Trp1014Ter)
|
rs371720457
|
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.355+1G>T
|
rs775196937
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3983-1G>T
|
rs752465293
|
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.88G>T (p.Glu30Ter)
|
rs1198210848
|
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.(?_30977883)_(31003833_?)del
|
|
|
NC_000008.10:g.(?_31007847)_(31024756_?)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)
|
|
|
NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs)
|
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
|
|
NM_000553.6(WRN):c.1350+1G>A
|
rs752202315
|
|
NM_000553.6(WRN):c.1350+1G>C
|
|
|
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.1372G>T (p.Glu458Ter)
|
|
|
NM_000553.6(WRN):c.1432-2A>G
|
|
|
NM_000553.6(WRN):c.1432-2A>T
|
rs1389423879
|
|
NM_000553.6(WRN):c.1432-2_1433del
|
|
|
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)
|
|
|
NM_000553.6(WRN):c.1576+1G>A
|
|
|
NM_000553.6(WRN):c.1576+1G>T
|
|
|
NM_000553.6(WRN):c.1576+1dup
|
rs2130157703
|
|
NM_000553.6(WRN):c.1577-2A>G
|
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1653-2A>G
|
rs1434118877
|
|
NM_000553.6(WRN):c.1653-2A>T
|
rs1434118877
|
|
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)
|
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1689_1695del (p.Arg564fs)
|
|
|
NM_000553.6(WRN):c.1720+1G>T
|
|
|
NM_000553.6(WRN):c.1720+5G>A
|
rs1813707238
|
|
NM_000553.6(WRN):c.1721-1G>A
|
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
|
|
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
|
rs1813725009
|
|
NM_000553.6(WRN):c.1829+2T>C
|
|
|
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)
|
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
|
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)
|
|
|
NM_000553.6(WRN):c.1981+1G>A
|
|
|
NM_000553.6(WRN):c.1981+1G>C
|
rs1814007969
|
|
NM_000553.6(WRN):c.2017dup (p.Ile673fs)
|
|
|
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer)
|
rs2130229490
|
|
NM_000553.6(WRN):c.2040del (p.Phe680fs)
|
|
|
NM_000553.6(WRN):c.2088+1G>T
|
|
|
NM_000553.6(WRN):c.2089-1G>C
|
rs2130282582
|
|
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
|
|
|
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)
|
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.230dup (p.Asp77fs)
|
|
|
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.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.254_258dup (p.Pro87fs)
|
|
|
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)
|
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)
|
|
|
NM_000553.6(WRN):c.2732+1G>A
|
rs1047229701
|
|
NM_000553.6(WRN):c.2732+1G>C
|
rs1047229701
|
|
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)
|
|
|
NM_000553.6(WRN):c.2922_2968-316del
|
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.2967+1G>A
|
rs1474054365
|
|
NM_000553.6(WRN):c.2968-1G>A
|
rs1300106191
|
|
NM_000553.6(WRN):c.2968-1G>C
|
|
|
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.3309+1G>T
|
rs1281075870
|
|
NM_000553.6(WRN):c.3309+2T>G
|
|
|
NM_000553.6(WRN):c.3381_3383+76del
|
rs1585517902
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3383+1G>A
|
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3459+1G>A
|
|
|
NM_000553.6(WRN):c.3459+2T>G
|
rs2130439413
|
|
NM_000553.6(WRN):c.3460-1G>C
|
|
|
NM_000553.6(WRN):c.3460-2A>G
|
rs281865159
|
|
NM_000553.6(WRN):c.3511del (p.Met1171fs)
|
|
|
NM_000553.6(WRN):c.356-2A>G
|
|
|
NM_000553.6(WRN):c.3572+1G>T
|
rs2130441377
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.3637del (p.Ala1213fs)
|
|
|
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)
|
|
|
NM_000553.6(WRN):c.3687+2T>C
|
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
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.3972del (p.Val1325fs)
|
|
|
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.39_40dup (p.Lys14fs)
|
|
|
NM_000553.6(WRN):c.4109del (p.Asn1370fs)
|
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
|
|
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)
|
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
|
|
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
|
|
|
NM_000553.6(WRN):c.505-2A>G
|
rs2130048793
|
|
NM_000553.6(WRN):c.539_543del (p.Leu180fs)
|
|
|
NM_000553.6(WRN):c.554T>A (p.Leu185Ter)
|
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.599G>A (p.Trp200Ter)
|
|
|
NM_000553.6(WRN):c.654+2T>C
|
|
|
NM_000553.6(WRN):c.724+513A>G
|
|
|
NM_000553.6(WRN):c.724+515A>G
|
|
|
NM_000553.6(WRN):c.724_724+3del
|
rs1554519449
|
|
NM_000553.6(WRN):c.725-1G>A
|
|
|
NM_000553.6(WRN):c.725-1G>C
|
|
|
NM_000553.6(WRN):c.725-2A>G
|
|
|
NM_000553.6(WRN):c.838del (p.Arg280fs)
|
|
|
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
|
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000553.6(WRN):c.96+1G>A
|
|
|
NM_000553.6(WRN):c.96+1G>T
|
|
|
NM_000553.6(WRN):c.96+1del
|
|
|
NM_000553.6(WRN):c.968C>G (p.Ser323Ter)
|
|
|