NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
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.2665C>T (p.Arg889Ter)
|
rs774765029
|
0.00002
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_000553.6(WRN):c.896dup (p.Ile300fs)
|
rs757968518
|
0.00002
|
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)
|
rs751969803
|
0.00001
|
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)
|
rs143916053
|
0.00001
|
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)
|
rs763089663
|
0.00001
|
NM_000553.6(WRN):c.2551G>T (p.Glu851Ter)
|
rs1428459485
|
0.00001
|
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter)
|
rs1441659798
|
0.00001
|
NM_000553.6(WRN):c.2952del (p.Leu984fs)
|
rs1455560468
|
0.00001
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
NM_000553.6(WRN):c.3130dup (p.Thr1044fs)
|
rs1563376595
|
0.00001
|
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)
|
rs1319491415
|
0.00001
|
NM_000553.6(WRN):c.3383+1G>T
|
rs1413656527
|
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.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)
|
rs1303126572
|
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.961G>T (p.Glu321Ter)
|
rs779012596
|
0.00001
|
L76937.1:c.3711del
|
rs1563385391
|
|
NC_000008.10:g.(30958472_30969130)_(30982517_30989880)del
|
|
|
NC_000008.10:g.(?_30915958)_(31030624_?)del
|
|
|
NC_000008.10:g.(?_30915964)_(30916791_?)del
|
|
|
NC_000008.10:g.(?_30915964)_(31030618_?)del
|
|
|
NC_000008.10:g.(?_30916659)_(30916791_?)del
|
|
|
NC_000008.10:g.(?_30921795)_(30925853_?)del
|
|
|
NC_000008.10:g.(?_30924539)_(30925853_?)del
|
|
|
NC_000008.10:g.(?_30925764)_(30925853_?)del
|
|
|
NC_000008.10:g.(?_30938363)_(30941305_?)del
|
|
|
NC_000008.10:g.(?_30938373)_(30974054_?)del
|
|
|
NC_000008.10:g.(?_30941205)_(30946501_?)del
|
|
|
NC_000008.10:g.(?_30941205)_(30969325_?)del
|
|
|
NC_000008.10:g.(?_30958355)_(30958481_?)del
|
|
|
NC_000008.10:g.(?_30958355)_(30982526_?)del
|
|
|
NC_000008.10:g.(?_30982018)_(30990042_?)del
|
|
|
NC_000008.10:g.(?_30989871)_(30990032_?)del
|
|
|
NC_000008.10:g.(?_30998936)_(31015056_?)del
|
|
|
NC_000008.10:g.(?_31001056)_(31001149_?)del
|
|
|
NC_000008.10:g.(?_31001056)_(31030618_?)del
|
|
|
NC_000008.10:g.(?_31007847)_(31012281_?)del
|
|
|
NC_000008.10:g.(?_31007847)_(31015056_?)del
|
|
|
NC_000008.10:g.(?_31014911)_31015491del
|
|
|
NC_000008.11:g.(?_31058438)_(31059275_?)del
|
|
|
NC_000008.11:g.(?_31058448)_(31111809_?)del
|
|
|
NC_000008.11:g.(?_31059147)_(31059271_?)del
|
|
|
NC_000008.11:g.(?_31076163)_(31076297_?)del
|
|
|
NC_000008.11:g.(?_31108591)_(31125010_?)del
|
|
|
NC_000008.11:g.(?_31150341)_(31157530_?)del
|
|
|
NM_000553.4(WRN):c.[375A>T;403A>G]
|
|
|
NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)
|
|
|
NM_000553.6(WRN):c.1009_1013del (p.Glu337fs)
|
rs2130118890
|
|
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)
|
rs2130118911
|
|
NM_000553.6(WRN):c.1016_1017insTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACATGAAGTTTT (p.Leu339delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyPheThrValLeuAlaGlyMetValSerIleSerTer)
|
rs2130118800
|
|
NM_000553.6(WRN):c.1054dup (p.Asp352fs)
|
rs2130119420
|
|
NM_000553.6(WRN):c.1098dup (p.Val367fs)
|
|
|
NM_000553.6(WRN):c.109A>T (p.Lys37Ter)
|
|
|
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter)
|
rs1563338837
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000553.6(WRN):c.1134del (p.Glu379fs)
|
|
|
NM_000553.6(WRN):c.1146del (p.Lys382fs)
|
|
|
NM_000553.6(WRN):c.1157del (p.Asn386fs)
|
rs2130120515
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
|
|
NM_000553.6(WRN):c.1210del (p.Ile404fs)
|
rs2130121219
|
|
NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)
|
|
|
NM_000553.6(WRN):c.1225del (p.Ser409fs)
|
|
|
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)
|
rs1563339055
|
|
NM_000553.6(WRN):c.1229dup (p.Glu411fs)
|
rs1563339062
|
|
NM_000553.6(WRN):c.1231G>T (p.Glu411Ter)
|
rs2130121425
|
|
NM_000553.6(WRN):c.1252del (p.Ala418fs)
|
rs2130121624
|
|
NM_000553.6(WRN):c.1290_1293del (p.Asn430fs)
|
rs1389340786
|
|
NM_000553.6(WRN):c.1301del (p.Thr434fs)
|
rs2130133359
|
|
NM_000553.6(WRN):c.1320del (p.Ser440fs)
|
|
|
NM_000553.6(WRN):c.1321del (p.Asp441fs)
|
|
|
NM_000553.6(WRN):c.1371_1374del (p.Asn457fs)
|
rs2130140311
|
|
NM_000553.6(WRN):c.1390_1391del (p.Val464fs)
|
|
|
NM_000553.6(WRN):c.1426del (p.Lys477fs)
|
|
|
NM_000553.6(WRN):c.1442_1443insT (p.Leu482fs)
|
rs2130155211
|
|
NM_000553.6(WRN):c.1462G>T (p.Glu488Ter)
|
rs2130155645
|
|
NM_000553.6(WRN):c.1472dup (p.His491fs)
|
rs2130155924
|
|
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
|
|
|
NM_000553.6(WRN):c.1486_1489del (p.Lys496fs)
|
|
|
NM_000553.6(WRN):c.1541del (p.Asn514fs)
|
|
|
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)
|
|
|
NM_000553.6(WRN):c.1593dup (p.Pro532fs)
|
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.15dup (p.Leu6fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
|
|
|
NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter)
|
rs2130164025
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1672_1673insGGAAT (p.His558fs)
|
|
|
NM_000553.6(WRN):c.1674_1677del (p.His558fs)
|
rs749616545
|
|
NM_000553.6(WRN):c.1692_1693del (p.Arg565_Asp566insTer)
|
|
|
NM_000553.6(WRN):c.1695del (p.Asp566fs)
|
rs2130171351
|
|
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter)
|
rs373806031
|
|
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)
|
rs373806031
|
|
NM_000553.6(WRN):c.171del (p.Ser56_Tyr57insTer)
|
rs1812391312
|
|
NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)
|
|
|
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter)
|
rs1396973081
|
|
NM_000553.6(WRN):c.1730A>T (p.Lys577Met)
|
rs121908448
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
|
|
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
|
|
|
NM_000553.6(WRN):c.1828A>T (p.Lys610Ter)
|
rs1813725603
|
|
NM_000553.6(WRN):c.1862dup (p.Ala622fs)
|
rs2130178691
|
|
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)
|
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter)
|
rs765756226
|
|
NM_000553.6(WRN):c.1940del (p.Cys646_Ser647insTer)
|
|
|
NM_000553.6(WRN):c.1993dup (p.Ile665fs)
|
rs1814195192
|
|
NM_000553.6(WRN):c.2015_2016del (p.Cys672fs)
|
|
|
NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)
|
|
|
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter)
|
rs1585455586
|
|
NM_000553.6(WRN):c.2031del (p.His678fs)
|
rs2130229354
|
|
NM_000553.6(WRN):c.2068del (p.Ser689_Leu690insTer)
|
rs2130229956
|
|
NM_000553.6(WRN):c.2084_2085insCATTC (p.Met696fs)
|
|
|
NM_000553.6(WRN):c.2089-3024A>G
|
rs281865157
|
|
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)
|
rs1383589957
|
|
NM_000553.6(WRN):c.2106_2109dup (p.Ala704fs)
|
|
|
NM_000553.6(WRN):c.2106dup (p.Thr703fs)
|
rs2130282820
|
|
NM_000553.6(WRN):c.2107dup (p.Thr703fs)
|
rs1554526707
|
|
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)
|
rs761240520
|
|
NM_000553.6(WRN):c.214dup (p.Ser72fs)
|
|
|
NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)
|
|
|
NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)
|
|
|
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter)
|
rs1563357741
|
|
NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs)
|
rs2130283793
|
|
NM_000553.6(WRN):c.2198del (p.Pro733fs)
|
|
|
NM_000553.6(WRN):c.221C>G (p.Ser74Ter)
|
|
|
NM_000553.6(WRN):c.2227del (p.Thr743fs)
|
rs2130284286
|
|
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
|
|
|
NM_000553.6(WRN):c.2232del (p.Asn745fs)
|
rs2130284409
|
|
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)
|
rs1801328287
|
|
NM_000553.6(WRN):c.2269del (p.Thr757fs)
|
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.22del (p.Thr8fs)
|
rs1812358625
|
|
NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)
|
|
|
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter)
|
rs1554527775
|
|
NM_000553.6(WRN):c.2345del (p.Gly782fs)
|
rs1585478303
|
|
NM_000553.6(WRN):c.2359_2361delinsTT (p.Asn788fs)
|
rs1585478331
|
|
NM_000553.6(WRN):c.2359dup (p.Leu787fs)
|
rs1801522729
|
|
NM_000553.6(WRN):c.2377del (p.Thr793fs)
|
|
|
NM_000553.6(WRN):c.238G>T (p.Gly80Ter)
|
|
|
NM_000553.6(WRN):c.2390del (p.Gly797fs)
|
|
|
NM_000553.6(WRN):c.2427del (p.Arg809fs)
|
rs2130306151
|
|
NM_000553.6(WRN):c.2427dup (p.Phe810fs)
|
|
|
NM_000553.6(WRN):c.2432dup (p.Arg812fs)
|
|
|
NM_000553.6(WRN):c.2443del (p.Ile815fs)
|
|
|
NM_000553.6(WRN):c.2448+1G>A
|
rs2130306367
|
|
NM_000553.6(WRN):c.2488_2498del (p.Lys830fs)
|
|
|
NM_000553.6(WRN):c.2503C>T (p.Gln835Ter)
|
rs2130322156
|
|
NM_000553.6(WRN):c.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter)
|
rs1585483312
|
|
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs)
|
rs878854136
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.254G>A (p.Trp85Ter)
|
rs2130032250
|
|
NM_000553.6(WRN):c.2555_2562del (p.Ile852fs)
|
|
|
NM_000553.6(WRN):c.255G>A (p.Trp85Ter)
|
rs2130032264
|
|
NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)
|
|
|
NM_000553.6(WRN):c.2584del (p.Ser862fs)
|
rs1801678807
|
|
NM_000553.6(WRN):c.2594dup (p.His865fs)
|
|
|
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter)
|
rs1554528411
|
|
NM_000553.6(WRN):c.2613dup (p.Asp872fs)
|
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter)
|
rs1801846606
|
|
NM_000553.6(WRN):c.272del (p.Arg91fs)
|
rs1812611533
|
|
NM_000553.6(WRN):c.2741del (p.Leu914fs)
|
rs2130344386
|
|
NM_000553.6(WRN):c.2772del (p.Ala925fs)
|
|
|
NM_000553.6(WRN):c.2820del (p.Arg940fs)
|
rs2130344836
|
|
NM_000553.6(WRN):c.2858_2859del (p.Glu953fs)
|
|
|
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)
|
rs1585502089
|
|
NM_000553.6(WRN):c.2886del (p.Ala963fs)
|
rs2130376964
|
|
NM_000553.6(WRN):c.2894dup (p.Leu966fs)
|
rs2130377037
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter)
|
rs1802623856
|
|
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)
|
rs1563376347
|
|
NM_000553.6(WRN):c.3003_3004del (p.His1001fs)
|
|
|
NM_000553.6(WRN):c.3008del (p.Leu1003fs)
|
|
|
NM_000553.6(WRN):c.3008dup (p.Leu1003fs)
|
rs1802626671
|
|
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
|
|
|
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs)
|
rs748860208
|
|
NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs)
|
rs759972548
|
|
NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)
|
|
|
NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)
|
|
|
NM_000553.6(WRN):c.305T>A (p.Leu102Ter)
|
rs1812613241
|
|
NM_000553.6(WRN):c.3085del (p.Leu1028_Val1029insTer)
|
|
|
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter)
|
rs1563376526
|
|
NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter)
|
rs773664315
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter)
|
rs2130417119
|
|
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
|
|
|
NM_000553.6(WRN):c.3195del (p.Asn1066fs)
|
rs1802645000
|
|
NM_000553.6(WRN):c.31C>T (p.Gln11Ter)
|
rs2130000774
|
|
NM_000553.6(WRN):c.3233+1G>C
|
rs1563376793
|
|
NM_000553.6(WRN):c.3233+2T>C
|
|
|
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter)
|
rs1288018118
|
|
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs)
|
rs770947623
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.327T>A (p.Cys109Ter)
|
rs371538747
|
|
NM_000553.6(WRN):c.3288del (p.Glu1097fs)
|
rs2130422216
|
|
NM_000553.6(WRN):c.3308del (p.Lys1103fs)
|
rs1802694719
|
|
NM_000553.6(WRN):c.3310-1_3369dup
|
rs2130426690
|
|
NM_000553.6(WRN):c.3317dup (p.Leu1106fs)
|
|
|
NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter)
|
rs1802745073
|
|
NM_000553.6(WRN):c.3382del (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3384-1G>T
|
rs776963381
|
|
NM_000553.6(WRN):c.3384-2A>G
|
|
|
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)
|
rs1585521874
|
|
NM_000553.6(WRN):c.3403del (p.Glu1135fs)
|
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter)
|
rs1454512341
|
|
NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)
|
|
|
NM_000553.6(WRN):c.3446del (p.Glu1149fs)
|
|
|
NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_000553.6(WRN):c.3455_3458dup (p.Gln1153fs)
|
|
|
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter)
|
rs121908447
|
|
NM_000553.6(WRN):c.3502dup (p.Ala1168fs)
|
|
|
NM_000553.6(WRN):c.3529_3530del (p.Ile1177fs)
|
|
|
NM_000553.6(WRN):c.3545dup (p.Ile1183fs)
|
|
|
NM_000553.6(WRN):c.356-2A>C
|
rs780068269
|
|
NM_000553.6(WRN):c.3572+1G>T
|
rs2130441377
|
|
NM_000553.6(WRN):c.3572+2T>C
|
|
|
NM_000553.6(WRN):c.3573-1_3579dup
|
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.360dup (p.Pro121fs)
|
|
|
NM_000553.6(WRN):c.364C>T (p.Gln122Ter)
|
|
|
NM_000553.6(WRN):c.3666del (p.Cys1223fs)
|
|
|
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs)
|
rs1803078438
|
|
NM_000553.6(WRN):c.3682del (p.Val1228fs)
|
rs1563382597
|
|
NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)
|
|
|
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu)
|
rs369158322
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000553.6(WRN):c.3690_3693del
|
rs606231162
|
|
NM_000553.6(WRN):c.3711del (p.Lys1237fs)
|
rs1563385391
|
|
NM_000553.6(WRN):c.3726del (p.Lys1243fs)
|
rs2130469991
|
|
NM_000553.6(WRN):c.3749dup (p.Asn1250fs)
|
|
|
NM_000553.6(WRN):c.3766del (p.Ser1256fs)
|
|
|
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)
|
rs2130470364
|
|
NM_000553.6(WRN):c.3769_3770del (p.Gln1257fs)
|
|
|
NM_000553.6(WRN):c.3785_3786del (p.Thr1262fs)
|
|
|
NM_000553.6(WRN):c.3851_3982+449del
|
rs2130480213
|
|
NM_000553.6(WRN):c.3852_3853del (p.Met1285fs)
|
rs1803426742
|
|
NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)
|
|
|
NM_000553.6(WRN):c.3915dup (p.Ala1306fs)
|
rs587776621
|
|
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter)
|
rs1585536813
|
|
NM_000553.6(WRN):c.3937del (p.Gln1313fs)
|
|
|
NM_000553.6(WRN):c.3972del (p.Val1325fs)
|
|
|
NM_000553.6(WRN):c.4041dup (p.Ile1348fs)
|
rs2130514507
|
|
NM_000553.6(WRN):c.4068dup (p.His1357fs)
|
|
|
NM_000553.6(WRN):c.4077dup (p.Asp1360Ter)
|
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
|
|
NM_000553.6(WRN):c.430del (p.Gln144fs)
|
|
|
NM_000553.6(WRN):c.434G>A (p.Trp145Ter)
|
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
|
|
NM_000553.6(WRN):c.474dup (p.Val159fs)
|
|
|
NM_000553.6(WRN):c.480_484del (p.Glu160fs)
|
rs2130037261
|
|
NM_000553.6(WRN):c.487_488del (p.Asp163fs)
|
rs797045118
|
|
NM_000553.6(WRN):c.502_503del (p.Lys168fs)
|
rs776785728
|
|
NM_000553.6(WRN):c.509_510dup (p.Cys171fs)
|
rs1554519254
|
|
NM_000553.6(WRN):c.515_516del (p.Thr172fs)
|
rs1585411632
|
|
NM_000553.6(WRN):c.522_523dup (p.Trp175fs)
|
rs1361270203
|
|
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer)
|
rs752830087
|
|
NM_000553.6(WRN):c.546del (p.Lys182fs)
|
|
|
NM_000553.6(WRN):c.554T>G (p.Leu185Ter)
|
rs1563331288
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.571A>T (p.Lys191Ter)
|
rs1812737120
|
|
NM_000553.6(WRN):c.583dup (p.Ile195fs)
|
|
|
NM_000553.6(WRN):c.600G>A (p.Trp200Ter)
|
rs2130050166
|
|
NM_000553.6(WRN):c.648dup (p.Ala217fs)
|
rs1812741645
|
|
NM_000553.6(WRN):c.655-1G>A
|
rs2130056280
|
|
NM_000553.6(WRN):c.669_693del (p.Ile223fs)
|
|
|
NM_000553.6(WRN):c.724+1G>A
|
rs1339616347
|
|
NM_000553.6(WRN):c.724+1G>T
|
rs1339616347
|
|
NM_000553.6(WRN):c.724G>T (p.Glu242Ter)
|
rs769959338
|
|
NM_000553.6(WRN):c.754A>T (p.Lys252Ter)
|
rs751986285
|
|
NM_000553.6(WRN):c.755_758del (p.Lys252fs)
|
rs1244318419
|
|
NM_000553.6(WRN):c.767C>G (p.Ser256Ter)
|
|
|
NM_000553.6(WRN):c.806del (p.Pro269fs)
|
|
|
NM_000553.6(WRN):c.810dup (p.Ala271fs)
|
rs1813089918
|
|
NM_000553.6(WRN):c.856A>T (p.Lys286Ter)
|
|
|
NM_000553.6(WRN):c.859del (p.Asp287fs)
|
rs1585427471
|
|
NM_000553.6(WRN):c.867_874del (p.Glu290fs)
|
rs752312589
|
|
NM_000553.6(WRN):c.886_890del (p.Arg296fs)
|
|
|
NM_000553.6(WRN):c.903dup (p.Ser302fs)
|
|
|
NM_000553.6(WRN):c.921_922del (p.Glu308fs)
|
rs746445847
|
|
NM_000553.6(WRN):c.924_928del (p.Leu309fs)
|
|
|
NM_000553.6(WRN):c.928_929dup (p.Pro311fs)
|
rs2130117999
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000553.6(WRN):c.945_949del (p.Leu315fs)
|
rs2130118163
|
|
NM_000553.6(WRN):c.979G>T (p.Gly327Ter)
|
rs1813283817
|
|
NM_000553.6(WRN):c.980_983dup (p.Gln329fs)
|
rs1585427710
|
|
NM_000553.6(WRN):c.985C>T (p.Gln329Ter)
|
rs1813285283
|
|
NM_000553.6(WRN):c.994C>T (p.Gln332Ter)
|
|
|
NM_000553.6(WRN):c.997_1000del (p.Ile333fs)
|
|
|