NM_001283009.2(RTEL1):c.973C>T (p.Leu325=)
|
rs142739953
|
0.00051
|
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu)
|
rs143461704
|
0.00042
|
NM_001283009.2(RTEL1):c.2652+4C>T
|
rs374540895
|
0.00042
|
NM_001283009.2(RTEL1):c.612C>T (p.His204=)
|
rs142711955
|
0.00040
|
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro)
|
rs143248833
|
0.00017
|
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln)
|
rs373996455
|
0.00008
|
NR_001566.1(TERC):n.360C>G
|
rs777348518
|
0.00006
|
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr)
|
rs746411863
|
0.00005
|
NR_001566.1(TERC):n.234C>T
|
rs1032106566
|
0.00005
|
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys)
|
rs200565373
|
0.00004
|
NR_001566.1(TERC):n.351C>G
|
rs925088948
|
0.00004
|
NR_001566.1(TERC):n.199C>T
|
rs760168757
|
0.00003
|
NR_001566.1(TERC):n.37A>G
|
rs199422261
|
0.00003
|
NR_001566.1(TERC):n.205C>T
|
rs1192146620
|
0.00002
|
NR_001566.1(TERC):n.231C>T
|
rs906136164
|
0.00002
|
NR_001566.1(TERC):n.24A>G
|
rs766746392
|
0.00002
|
NR_001566.1(TERC):n.344C>T
|
rs374793413
|
0.00002
|
NR_001566.1(TERC):n.357T>C
|
rs569827301
|
0.00002
|
NR_001566.1(TERC):n.75C>T
|
rs771988301
|
0.00002
|
NR_001566.1(TERC):n.11G>T
|
rs1159032173
|
0.00001
|
NR_001566.1(TERC):n.140G>A
|
rs1469879190
|
0.00001
|
NR_001566.1(TERC):n.150A>G
|
rs781357040
|
0.00001
|
NR_001566.1(TERC):n.151C>T
|
rs768990533
|
0.00001
|
NR_001566.1(TERC):n.157A>T
|
rs1268597311
|
0.00001
|
NR_001566.1(TERC):n.160C>T
|
rs747522689
|
0.00001
|
NR_001566.1(TERC):n.164A>C
|
rs750837239
|
0.00001
|
NR_001566.1(TERC):n.165G>A
|
rs367842608
|
0.00001
|
NR_001566.1(TERC):n.169A>G
|
rs1439415851
|
0.00001
|
NR_001566.1(TERC):n.193G>A
|
rs753227339
|
0.00001
|
NR_001566.1(TERC):n.196C>T
|
rs573600318
|
0.00001
|
NR_001566.1(TERC):n.202T>C
|
rs1277188982
|
0.00001
|
NR_001566.1(TERC):n.211C>T
|
rs1346505603
|
0.00001
|
NR_001566.1(TERC):n.226C>T
|
rs1367910897
|
0.00001
|
NR_001566.1(TERC):n.233G>A
|
rs1325097452
|
0.00001
|
NR_001566.1(TERC):n.265C>T
|
rs1167306715
|
0.00001
|
NR_001566.1(TERC):n.267C>T
|
rs762111072
|
0.00001
|
NR_001566.1(TERC):n.280G>C
|
rs776511480
|
0.00001
|
NR_001566.1(TERC):n.285A>G
|
rs1777960434
|
0.00001
|
NR_001566.1(TERC):n.294C>T
|
rs1254978694
|
0.00001
|
NR_001566.1(TERC):n.297C>T
|
rs1206628752
|
0.00001
|
NR_001566.1(TERC):n.29T>A
|
rs1336050074
|
0.00001
|
NR_001566.1(TERC):n.30G>A
|
rs954091557
|
0.00001
|
NR_001566.1(TERC):n.321C>T
|
rs747154095
|
0.00001
|
NR_001566.1(TERC):n.340A>C
|
rs746192063
|
0.00001
|
NR_001566.1(TERC):n.359T>C
|
rs753524068
|
0.00001
|
NR_001566.1(TERC):n.35C>T
|
rs199422260
|
0.00001
|
NR_001566.1(TERC):n.363G>C
|
rs1475263094
|
0.00001
|
NR_001566.1(TERC):n.36C>T
|
rs1248582778
|
0.00001
|
NR_001566.1(TERC):n.382A>G
|
rs1777958465
|
0.00001
|
NR_001566.1(TERC):n.390C>A
|
rs1777958283
|
0.00001
|
NR_001566.1(TERC):n.395G>T
|
rs1415109076
|
0.00001
|
NR_001566.1(TERC):n.397G>A
|
rs767519425
|
0.00001
|
NR_001566.1(TERC):n.409C>T
|
rs766203739
|
0.00001
|
NR_001566.1(TERC):n.415C>T
|
rs762726864
|
0.00001
|
NR_001566.1(TERC):n.423C>T
|
rs776902194
|
0.00001
|
NR_001566.1(TERC):n.430C>G
|
rs1230531511
|
0.00001
|
NR_001566.1(TERC):n.431C>T
|
rs1374142931
|
0.00001
|
NR_001566.1(TERC):n.432A>G
|
rs1479831336
|
0.00001
|
NR_001566.1(TERC):n.44G>A
|
rs763886920
|
0.00001
|
NR_001566.1(TERC):n.450G>A
|
rs199422287
|
0.00001
|
NR_001566.1(TERC):n.451C>T
|
rs1060502986
|
0.00001
|
NR_001566.1(TERC):n.55A>T
|
rs1777964464
|
0.00001
|
NR_001566.1(TERC):n.93G>C
|
rs745711557
|
0.00001
|
NC_000003.11:g.(?_169482388)_(170130102_?)dup
|
|
|
NC_000003.11:g.(?_169482398)_(169482848_?)dup
|
|
|
NC_000003.12:g.(?_169764590)_(169765080_?)dup
|
|
|
NC_000003.12:g.(?_169764600)_(169765070_?)dup
|
|
|
NC_000003.12:g.(?_169764600)_(169765159_?)dup
|
|
|
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys)
|
rs1601119963
|
|
NR_001566.1(TERC):n.104C>T
|
rs1777963465
|
|
NR_001566.1(TERC):n.105T>A
|
|
|
NR_001566.1(TERC):n.106C>T
|
|
|
NR_001566.1(TERC):n.107G>C
|
rs1553915617
|
|
NR_001566.1(TERC):n.108C>T
|
|
|
NR_001566.1(TERC):n.115T>G
|
rs1777963295
|
|
NR_001566.1(TERC):n.116C>G
|
|
|
NR_001566.1(TERC):n.116C>T
|
rs199422272
|
|
NR_001566.1(TERC):n.119C>T
|
rs1021170574
|
|
NR_001566.1(TERC):n.121G>A
|
|
|
NR_001566.1(TERC):n.125del
|
rs2108183234
|
|
NR_001566.1(TERC):n.128A>G
|
rs1553915610
|
|
NR_001566.1(TERC):n.12G>A
|
|
|
NR_001566.1(TERC):n.130G>A
|
rs2108183226
|
|
NR_001566.1(TERC):n.131C>T
|
rs1414718271
|
|
NR_001566.1(TERC):n.132C>T
|
rs1160164639
|
|
NR_001566.1(TERC):n.133T>C
|
rs1777963007
|
|
NR_001566.1(TERC):n.134C>G
|
rs1306157402
|
|
NR_001566.1(TERC):n.134C>T
|
rs1306157402
|
|
NR_001566.1(TERC):n.13G>T
|
rs1383902005
|
|
NR_001566.1(TERC):n.141C>T
|
|
|
NR_001566.1(TERC):n.142C>A
|
rs1560578689
|
|
NR_001566.1(TERC):n.145C>T
|
rs1777962706
|
|
NR_001566.1(TERC):n.148C>G
|
rs2108183190
|
|
NR_001566.1(TERC):n.149C>T
|
|
|
NR_001566.1(TERC):n.152C>T
|
rs1777962509
|
|
NR_001566.1(TERC):n.153G>A
|
rs1211790833
|
|
NR_001566.1(TERC):n.153G>T
|
rs1211790833
|
|
NR_001566.1(TERC):n.155T>G
|
|
|
NR_001566.1(TERC):n.156C>T
|
rs887909084
|
|
NR_001566.1(TERC):n.162A>C
|
rs1777962278
|
|
NR_001566.1(TERC):n.162A>G
|
rs1777962278
|
|
NR_001566.1(TERC):n.163G>A
|
rs758748876
|
|
NR_001566.1(TERC):n.163G>C
|
|
|
NR_001566.1(TERC):n.163G>T
|
rs758748876
|
|
NR_001566.1(TERC):n.166C>A
|
rs1303286129
|
|
NR_001566.1(TERC):n.176dup
|
|
|
NR_001566.1(TERC):n.177T>C
|
|
|
NR_001566.1(TERC):n.182G>C
|
rs1777962078
|
|
NR_001566.1(TERC):n.183C>T
|
rs1391283733
|
|
NR_001566.1(TERC):n.184T>C
|
|
|
NR_001566.1(TERC):n.18C>A
|
|
|
NR_001566.1(TERC):n.18C>T
|
rs751824499
|
|
NR_001566.1(TERC):n.190C>T
|
|
|
NR_001566.1(TERC):n.191C>T
|
rs756967332
|
|
NR_001566.1(TERC):n.192C>G
|
|
|
NR_001566.1(TERC):n.192C>T
|
rs1383015695
|
|
NR_001566.1(TERC):n.197G>A
|
rs763663847
|
|
NR_001566.1(TERC):n.198C>T
|
rs1191661277
|
|
NR_001566.1(TERC):n.199C>A
|
|
|
NR_001566.1(TERC):n.19C>T
|
|
|
NR_001566.1(TERC):n.1G>C
|
rs953309807
|
|
NR_001566.1(TERC):n.200C>T
|
rs1777961769
|
|
NR_001566.1(TERC):n.201dup
|
rs769251104
|
|
NR_001566.1(TERC):n.206G>A
|
rs1445101144
|
|
NR_001566.1(TERC):n.209G>A
|
rs1200725441
|
|
NR_001566.1(TERC):n.209G>C
|
rs1200725441
|
|
NR_001566.1(TERC):n.209G>T
|
rs1200725441
|
|
NR_001566.1(TERC):n.209dup
|
rs2108183111
|
|
NR_001566.1(TERC):n.20T>C
|
rs1060502987
|
|
NR_001566.1(TERC):n.20T>G
|
|
|
NR_001566.1(TERC):n.210A>C
|
|
|
NR_001566.1(TERC):n.211C>A
|
|
|
NR_001566.1(TERC):n.217G>C
|
rs1553915599
|
|
NR_001566.1(TERC):n.218C>T
|
|
|
NR_001566.1(TERC):n.219G>A
|
rs1277657900
|
|
NR_001566.1(TERC):n.21G>C
|
|
|
NR_001566.1(TERC):n.221G>C
|
|
|
NR_001566.1(TERC):n.221del
|
|
|
NR_001566.1(TERC):n.228G>T
|
|
|
NR_001566.1(TERC):n.229C>T
|
|
|
NR_001566.1(TERC):n.230C>T
|
rs893587661
|
|
NR_001566.1(TERC):n.232A>C
|
rs878855313
|
|
NR_001566.1(TERC):n.232dup
|
|
|
NR_001566.1(TERC):n.236C>G
|
rs1777961092
|
|
NR_001566.1(TERC):n.238C>T
|
rs1577384200
|
|
NR_001566.1(TERC):n.239G>A
|
rs1016737019
|
|
NR_001566.1(TERC):n.241A>G
|
rs537355285
|
|
NR_001566.1(TERC):n.242C>T
|
rs1375071104
|
|
NR_001566.1(TERC):n.243C>T
|
rs2108183041
|
|
NR_001566.1(TERC):n.244C>G
|
|
|
NR_001566.1(TERC):n.244C>T
|
|
|
NR_001566.1(TERC):n.245del
|
rs1171775942
|
|
NR_001566.1(TERC):n.246G>A
|
rs1377926219
|
|
NR_001566.1(TERC):n.247C>A
|
|
|
NR_001566.1(TERC):n.248del
|
rs1777960875
|
|
NR_001566.1(TERC):n.251G>A
|
rs2108183025
|
|
NR_001566.1(TERC):n.253G>A
|
|
|
NR_001566.1(TERC):n.255C>T
|
rs2108183019
|
|
NR_001566.1(TERC):n.256C>T
|
rs1777960849
|
|
NR_001566.1(TERC):n.258C>T
|
rs1577384186
|
|
NR_001566.1(TERC):n.25G>T
|
|
|
NR_001566.1(TERC):n.261T>G
|
|
|
NR_001566.1(TERC):n.266C>T
|
rs1777960682
|
|
NR_001566.1(TERC):n.268G>A
|
rs2108182996
|
|
NR_001566.1(TERC):n.26G>A
|
|
|
NR_001566.1(TERC):n.26G>C
|
|
|
NR_001566.1(TERC):n.26G>T
|
|
|
NR_001566.1(TERC):n.26_27insC
|
|
|
NR_001566.1(TERC):n.270G>A
|
rs1777960642
|
|
NR_001566.1(TERC):n.275C>T
|
|
|
NR_001566.1(TERC):n.276T>C
|
|
|
NR_001566.1(TERC):n.278C>T
|
rs1777960566
|
|
NR_001566.1(TERC):n.279G>T
|
|
|
NR_001566.1(TERC):n.281A>G
|
|
|
NR_001566.1(TERC):n.282G>A
|
rs1777960488
|
|
NR_001566.1(TERC):n.283G>T
|
rs2108182963
|
|
NR_001566.1(TERC):n.284C>A
|
|
|
NR_001566.1(TERC):n.284C>T
|
rs1577384177
|
|
NR_001566.1(TERC):n.286C>G
|
|
|
NR_001566.1(TERC):n.287C>A
|
rs1777960407
|
|
NR_001566.1(TERC):n.287C>G
|
|
|
NR_001566.1(TERC):n.28G>A
|
rs757982667
|
|
NR_001566.1(TERC):n.28G>C
|
rs757982667
|
|
NR_001566.1(TERC):n.295A>G
|
rs1297308302
|
|
NR_001566.1(TERC):n.296C>A
|
rs2108182940
|
|
NR_001566.1(TERC):n.296C>T
|
|
|
NR_001566.1(TERC):n.298G>A
|
rs2108182936
|
|
NR_001566.1(TERC):n.299C>T
|
|
|
NR_001566.1(TERC):n.29T>C
|
rs1336050074
|
|
NR_001566.1(TERC):n.2G>A
|
|
|
NR_001566.1(TERC):n.303G>C
|
|
|
NR_001566.1(TERC):n.305G>C
|
|
|
NR_001566.1(TERC):n.306T>C
|
|
|
NR_001566.1(TERC):n.311C>G
|
rs2108182925
|
|
NR_001566.1(TERC):n.317C>T
|
rs2108182912
|
|
NR_001566.1(TERC):n.31G>A
|
rs1446625124
|
|
NR_001566.1(TERC):n.31G>C
|
|
|
NR_001566.1(TERC):n.31G>T
|
|
|
NR_001566.1(TERC):n.327T>A
|
|
|
NR_001566.1(TERC):n.327T>C
|
|
|
NR_001566.1(TERC):n.327TC[2]
|
|
|
NR_001566.1(TERC):n.328del
|
|
|
NR_001566.1(TERC):n.32T>C
|
|
|
NR_001566.1(TERC):n.331T>C
|
rs2108182899
|
|
NR_001566.1(TERC):n.332C>T
|
|
|
NR_001566.1(TERC):n.335G>T
|
|
|
NR_001566.1(TERC):n.337GCGAGG[3]
|
rs1577384138
|
|
NR_001566.1(TERC):n.338C>T
|
rs935100722
|
|
NR_001566.1(TERC):n.339G>A
|
|
|
NR_001566.1(TERC):n.339G>C
|
rs772608895
|
|
NR_001566.1(TERC):n.340A>G
|
rs746192063
|
|
NR_001566.1(TERC):n.341G>A
|
rs1777959766
|
|
NR_001566.1(TERC):n.345G>T
|
|
|
NR_001566.1(TERC):n.346A>T
|
rs1777959711
|
|
NR_001566.1(TERC):n.349T>A
|
|
|
NR_001566.1(TERC):n.349T>C
|
rs2108182875
|
|
NR_001566.1(TERC):n.351C>T
|
rs925088948
|
|
NR_001566.1(TERC):n.353G>C
|
|
|
NR_001566.1(TERC):n.355C>A
|
|
|
NR_001566.1(TERC):n.357T>A
|
rs569827301
|
|
NR_001566.1(TERC):n.357_365del
|
rs1415168771
|
|
NR_001566.1(TERC):n.359_361delinsAAG
|
|
|
NR_001566.1(TERC):n.35C>A
|
rs199422260
|
|
NR_001566.1(TERC):n.360C>A
|
rs777348518
|
|
NR_001566.1(TERC):n.360C>T
|
rs777348518
|
|
NR_001566.1(TERC):n.362G>T
|
rs1553915587
|
|
NR_001566.1(TERC):n.364C>G
|
|
|
NR_001566.1(TERC):n.365C>T
|
|
|
NR_001566.1(TERC):n.366G>T
|
rs1560578577
|
|
NR_001566.1(TERC):n.367C>T
|
|
|
NR_001566.1(TERC):n.371A>G
|
|
|
NR_001566.1(TERC):n.373G>T
|
rs1777958605
|
|
NR_001566.1(TERC):n.374_1194del821
|
rs1553915517
|
|
NR_001566.1(TERC):n.375G>A
|
|
|
NR_001566.1(TERC):n.37A>C
|
rs199422261
|
|
NR_001566.1(TERC):n.37A>T
|
rs199422261
|
|
NR_001566.1(TERC):n.380G>A
|
|
|
NR_001566.1(TERC):n.384C>T
|
rs1777958436
|
|
NR_001566.1(TERC):n.385G>A
|
|
|
NR_001566.1(TERC):n.385G>C
|
|
|
NR_001566.1(TERC):n.389C>A
|
|
|
NR_001566.1(TERC):n.389C>T
|
rs762378141
|
|
NR_001566.1(TERC):n.38T>A
|
rs1488733250
|
|
NR_001566.1(TERC):n.391C>T
|
rs1046452760
|
|
NR_001566.1(TERC):n.392C>A
|
rs1777957949
|
|
NR_001566.1(TERC):n.393G>A
|
|
|
NR_001566.1(TERC):n.395G>A
|
|
|
NR_001566.1(TERC):n.396C>T
|
rs1483089001
|
|
NR_001566.1(TERC):n.397G>C
|
rs767519425
|
|
NR_001566.1(TERC):n.39T>C
|
rs1777964782
|
|
NR_001566.1(TERC):n.3G>A
|
rs1351896490
|
|
NR_001566.1(TERC):n.3G>C
|
rs1351896490
|
|
NR_001566.1(TERC):n.401C>T
|
rs759566601
|
|
NR_001566.1(TERC):n.404G>T
|
rs2108182785
|
|
NR_001566.1(TERC):n.405A>G
|
rs138034348
|
|
NR_001566.1(TERC):n.408C>T
|
rs199422284
|
|
NR_001566.1(TERC):n.40T>G
|
|
|
NR_001566.1(TERC):n.410C>G
|
rs199422286
|
|
NR_001566.1(TERC):n.424G>T
|
rs1337708802
|
|
NR_001566.1(TERC):n.427C>T
|
rs1777957096
|
|
NR_001566.1(TERC):n.42_43dup
|
rs1350357211
|
|
NR_001566.1(TERC):n.431dup
|
rs1777957000
|
|
NR_001566.1(TERC):n.432A>C
|
rs1479831336
|
|
NR_001566.1(TERC):n.432A>T
|
|
|
NR_001566.1(TERC):n.433G>A
|
|
|
NR_001566.1(TERC):n.434G>A
|
rs2108182735
|
|
NR_001566.1(TERC):n.439G>A
|
rs1777956819
|
|
NR_001566.1(TERC):n.439G>C
|
rs1777956819
|
|
NR_001566.1(TERC):n.43T>C
|
|
|
NR_001566.1(TERC):n.43T>G
|
rs1553915624
|
|
NR_001566.1(TERC):n.43dup
|
|
|
NR_001566.1(TERC):n.440G>A
|
rs2108182728
|
|
NR_001566.1(TERC):n.444A>G
|
rs1560578539
|
|
NR_001566.1(TERC):n.446_449dup
|
rs1777956725
|
|
NR_001566.1(TERC):n.449T>G
|
rs2108182721
|
|
NR_001566.1(TERC):n.44G>T
|
|
|
NR_001566.1(TERC):n.450dup
|
|
|
NR_001566.1(TERC):n.45T>G
|
|
|
NR_001566.1(TERC):n.46C>G
|
rs1330995437
|
|
NR_001566.1(TERC):n.46C>T
|
rs1330995437
|
|
NR_001566.1(TERC):n.4T>A
|
|
|
NR_001566.1(TERC):n.54A>C
|
rs1288561509
|
|
NR_001566.1(TERC):n.54A>G
|
rs1288561509
|
|
NR_001566.1(TERC):n.55A>G
|
|
|
NR_001566.1(TERC):n.56C>G
|
rs1777964433
|
|
NR_001566.1(TERC):n.57T>C
|
rs1777964371
|
|
NR_001566.1(TERC):n.57_58del
|
rs1777964336
|
|
NR_001566.1(TERC):n.58G>C
|
rs113487931
|
|
NR_001566.1(TERC):n.60G>A
|
rs1777964257
|
|
NR_001566.1(TERC):n.61A>G
|
|
|
NR_001566.1(TERC):n.62A>C
|
rs1203113072
|
|
NR_001566.1(TERC):n.62A>G
|
|
|
NR_001566.1(TERC):n.62A>T
|
|
|
NR_001566.1(TERC):n.65G>A
|
|
|
NR_001566.1(TERC):n.65G>T
|
rs2108183345
|
|
NR_001566.1(TERC):n.66C>A
|
rs1577384356
|
|
NR_001566.1(TERC):n.66C>T
|
rs1577384356
|
|
NR_001566.1(TERC):n.6G>A
|
rs1777965825
|
|
NR_001566.1(TERC):n.71G>T
|
rs1777964145
|
|
NR_001566.1(TERC):n.72C>T
|
|
|
NR_001566.1(TERC):n.74C>T
|
|
|
NR_001566.1(TERC):n.74_110del
|
|
|
NR_001566.1(TERC):n.75C>G
|
rs771988301
|
|
NR_001566.1(TERC):n.76G>A
|
|
|
NR_001566.1(TERC):n.78G>T
|
|
|
NR_001566.1(TERC):n.7C>A
|
rs781517281
|
|
NR_001566.1(TERC):n.7C>T
|
|
|
NR_001566.1(TERC):n.83T>C
|
|
|
NR_001566.1(TERC):n.83del
|
rs1777963882
|
|
NR_001566.1(TERC):n.84G>A
|
|
|
NR_001566.1(TERC):n.85C>T
|
|
|
NR_001566.1(TERC):n.87C>G
|
rs1777963818
|
|
NR_001566.1(TERC):n.87C>T
|
|
|
NR_001566.1(TERC):n.88C>A
|
rs2108183299
|
|
NR_001566.1(TERC):n.88C>T
|
rs2108183299
|
|
NR_001566.1(TERC):n.90C>A
|
rs1560578729
|
|
NR_001566.1(TERC):n.90C>T
|
|
|
NR_001566.1(TERC):n.91G>T
|
rs1777963764
|
|
NR_001566.1(TERC):n.94C>T
|
rs1212628582
|
|
NR_001566.1(TERC):n.95G>C
|
rs1777963668
|
|
NR_001566.1(TERC):n.96C>T
|
rs1777963621
|
|
NR_001566.1(TERC):n.97T>G
|
rs1777963567
|
|
NR_001566.1(TERC):n.99T>C
|
|
|