NR_001566.3(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
|
rs201765587
|
0.00009
|
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)
|
rs770066110
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)
|
rs1194089098
|
0.00006
|
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)
|
rs146221660
|
0.00004
|
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)
|
rs765981944
|
0.00004
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)
|
rs371035540
|
0.00001
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)
|
rs768188490
|
0.00001
|
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)
|
rs377024903
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter)
|
rs1385101139
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg)
|
rs777090017
|
0.00001
|
NM_002582.4(PARN):c.382C>T (p.Arg128Ter)
|
rs1318821563
|
0.00001
|
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
|
rs1363931577
|
0.00001
|
NM_002945.5(RPA1):c.680T>C (p.Val227Ala)
|
rs570041689
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
NM_198253.3(TERT):c.2594G>A (p.Arg865His)
|
rs121918666
|
0.00001
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
NC_000005.10:g.(?_1280152)_(1280344_?)del
|
|
|
NC_000005.10:g.(?_218346)_(1295046_?)del
|
|
|
NC_000005.10:g.(?_218349)_(1297373_?)del
|
|
|
NC_000005.9:g.(?_1253843)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1256219)_(1264507_?)del
|
|
|
NC_000005.9:g.(?_1266569)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1279790)_(1280463_?)del
|
|
|
NC_000005.9:g.(?_1282524)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1282603)_(1283866_?)del
|
|
|
NC_000005.9:g.(?_1287194)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_482643)_(1895829_?)del
|
|
|
NC_000016.9:g.(?_14530574)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14645858)_(14711527_?)del
|
|
|
NC_000016.9:g.(?_14645858)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14693741)_(14700403_?)del
|
|
|
NC_000016.9:g.(?_14704491)_(14704676_?)del
|
|
|
NC_000016.9:g.(?_14711427)_(14711527_?)del
|
|
|
NC_000016.9:g.(?_14711427)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14720953)_(14721203_?)del
|
|
|
NC_000016.9:g.(?_14725823)_(14643928_?)del
|
|
|
NC_000020.10:g.(?_61987307)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62075992)_(62324656_?)del
|
|
|
NC_000020.10:g.(?_62290746)_(62290867_?)del
|
|
|
NC_000020.10:g.(?_62290746)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62290756)_(62324646_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62298916_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62303984_?)del
|
|
|
NC_000020.10:g.(?_62303889)_(62305466_?)del
|
|
|
NC_000020.10:g.(?_62309478)_(62324656_?)del
|
|
|
NC_000020.10:g.(?_62309478)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62309488)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62316856)_(62327211_?)del
|
|
|
NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile)
|
rs2132046635
|
|
NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser)
|
rs121917738
|
|
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)
|
rs121917737
|
|
NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg)
|
rs2132045183
|
|
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs)
|
rs1601133145
|
|
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
|
|
|
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
|
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs)
|
rs2145411193
|
|
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs)
|
rs2145411302
|
|
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs)
|
rs2145411399
|
|
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)
|
rs2145411479
|
|
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
|
|
|
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
|
|
|
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
|
|
|
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu)
|
rs786205700
|
|
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs)
|
rs2090629495
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)
|
rs748223349
|
|
NM_001283009.2(RTEL1):c.1596-2A>G
|
|
|
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)
|
rs1367858373
|
|
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)
|
rs2090639016
|
|
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)
|
rs863225130
|
|
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
|
|
|
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
|
|
|
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
|
|
|
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
|
|
|
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs)
|
rs2145427564
|
|
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)
|
rs368311594
|
|
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
|
|
|
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)
|
rs1555811742
|
|
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter)
|
rs1555811762
|
|
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)
|
rs2090682958
|
|
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
|
|
|
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs)
|
rs2090684427
|
|
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
|
|
|
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
|
|
|
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)
|
rs863225053
|
|
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs)
|
rs2090699166
|
|
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)
|
rs2145430878
|
|
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter)
|
rs2145430921
|
|
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs)
|
rs2145431569
|
|
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
|
|
|
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
|
|
|
NM_001283009.2(RTEL1):c.2387del (p.Val796fs)
|
rs2145432198
|
|
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)
|
rs2090722556
|
|
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
|
|
|
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)
|
rs1278121916
|
|
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)
|
rs2145434954
|
|
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
|
|
|
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs)
|
rs2145439154
|
|
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)
|
rs752833281
|
|
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)
|
rs1555812480
|
|
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)
|
rs2090784564
|
|
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs)
|
rs2145445706
|
|
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
|
|
|
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)
|
rs866637461
|
|
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
|
|
|
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
|
|
|
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
|
|
|
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
|
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
|
|
|
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)
|
rs906116592
|
|
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs)
|
rs2090792717
|
|
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)
|
rs1555813144
|
|
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
|
|
|
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
|
|
|
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
|
|
|
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)
|
rs1285014916
|
|
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
|
|
|
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)
|
rs777109448
|
|
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter)
|
rs771746222
|
|
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs)
|
rs2145471381
|
|
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)
|
rs929898540
|
|
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)
|
rs2090929102
|
|
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs)
|
rs2090933372
|
|
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs)
|
rs2146150691
|
|
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)
|
rs1555814334
|
|
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro)
|
rs786205702
|
|
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs)
|
rs2145477500
|
|
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
|
|
|
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
|
|
|
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs)
|
rs1363124795
|
|
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
|
|
|
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
|
|
|
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)
|
rs2090027846
|
|
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs)
|
rs2145480213
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs)
|
rs1316931773
|
|
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs)
|
rs2145480909
|
|
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs)
|
rs764058481
|
|
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)
|
rs2145480992
|
|
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs)
|
rs2146153920
|
|
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)
|
rs2146141455
|
|
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)
|
rs2090043175
|
|
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs)
|
rs2146141304
|
|
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)
|
rs1555899932
|
|
NM_001283009.2(RTEL1):c.602del (p.Gly201fs)
|
rs863223336
|
|
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
|
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001283009.2(RTEL1):c.699+1G>T
|
|
|
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
|
|
|
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs)
|
rs2146197831
|
|
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
|
|
|
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)
|
rs1555901832
|
|
NM_001283009.2(RTEL1):c.958+2dup
|
rs869312855
|
|
NM_001283009.2(RTEL1):c.984del (p.Ile329fs)
|
rs2146211234
|
|
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer)
|
rs2146141332
|
|
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter)
|
rs1380270401
|
|
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs)
|
rs1969578006
|
|
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
|
|
|
NM_002582.4(PARN):c.1257del (p.Phe419fs)
|
rs942538351
|
|
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
|
|
|
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter)
|
rs745696590
|
|
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
|
|
|
NM_002582.4(PARN):c.177+1del
|
|
|
NM_002582.4(PARN):c.246-2A>G
|
rs751381953
|
|
NM_002582.4(PARN):c.417_420del (p.Glu139fs)
|
rs2151797695
|
|
NM_002582.4(PARN):c.529C>T (p.Gln177Ter)
|
rs876661305
|
|
NM_002582.4(PARN):c.563dup (p.Glu189fs)
|
rs878853260
|
|
NM_002582.4(PARN):c.656G>A (p.Trp219Ter)
|
|
|
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
|
rs760506977
|
|
NM_002582.4(PARN):c.713dup (p.Tyr238Ter)
|
rs1971048225
|
|
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
|
|
|
NM_002582.4(PARN):c.781C>T (p.Gln261Ter)
|
|
|
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)
|
|
|
NM_002945.5(RPA1):c.718G>A (p.Glu240Lys)
|
rs916648829
|
|
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)
|
rs2151286956
|
|
NM_015450.3(POT1):c.776T>C (p.Leu259Ser)
|
|
|
NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu)
|
rs1317757765
|
|
NM_018648.4(NOP10):c.17A>G (p.Tyr6Cys)
|
|
|
NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)
|
|
|
NM_138386.3(NAF1):c.956_957del (p.Lys319fs)
|
|
|
NM_138386.3(NAF1):c.984dup (p.Ser329fs)
|
|
|
NM_198253.2(TERT):c.[2371G>A;2599G>A]
|
|
|
NM_198253.3(TERT):c.*6_*182del
|
rs199422308
|
|
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs)
|
rs1554042899
|
|
NM_198253.3(TERT):c.1070del (p.Ala357fs)
|
|
|
NM_198253.3(TERT):c.10_11dup (p.Pro5fs)
|
rs2126693109
|
|
NM_198253.3(TERT):c.1122del (p.Thr375fs)
|
rs2126685887
|
|
NM_198253.3(TERT):c.1141del (p.Arg381fs)
|
|
|
NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs)
|
rs1751155195
|
|
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
|
|
|
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)
|
|
|
NM_198253.3(TERT):c.1314del (p.Glu439fs)
|
rs2126684848
|
|
NM_198253.3(TERT):c.131dup (p.Ala45fs)
|
|
|
NM_198253.3(TERT):c.1379del (p.Gln460fs)
|
|
|
NM_198253.3(TERT):c.1424del (p.Pro475fs)
|
rs2126684234
|
|
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)
|
rs1751122711
|
|
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)
|
rs1561213355
|
|
NM_198253.3(TERT):c.1453del (p.Arg485fs)
|
|
|
NM_198253.3(TERT):c.1471del (p.Thr491fs)
|
|
|
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)
|
rs2126649912
|
|
NM_198253.3(TERT):c.162C>A (p.Cys54Ter)
|
rs1751289309
|
|
NM_198253.3(TERT):c.164T>A (p.Leu55Gln)
|
rs387907247
|
|
NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs)
|
rs1579580058
|
|
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
|
|
|
NM_198253.3(TERT):c.1712del (p.Asn571fs)
|
rs1750090102
|
|
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)
|
rs1750086002
|
|
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)
|
|
|
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)
|
rs1554043139
|
|
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)
|
|
|
NM_198253.3(TERT):c.1837_1841del (p.Leu616fs)
|
|
|
NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs)
|
rs2126644399
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)
|
rs199422294
|
|
NM_198253.3(TERT):c.198dup (p.Ala67fs)
|
rs2126691416
|
|
NM_198253.3(TERT):c.2053_2055del (p.Asp685del)
|
|
|
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)
|
rs878855300
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198253.3(TERT):c.219+1G>A
|
rs199422309
|
|
NM_198253.3(TERT):c.2240del (p.Val747fs)
|
rs199422300
|
|
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)
|
rs121918663
|
|
NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs)
|
rs2126617841
|
|
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)
|
|
|
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)
|
|
|
NM_198253.3(TERT):c.2461_2462del (p.Arg821fs)
|
|
|
NM_198253.3(TERT):c.2461del (p.Arg821fs)
|
rs2126614292
|
|
NM_198253.3(TERT):c.247C>T (p.Arg83Ter)
|
rs867642414
|
|
NM_198253.3(TERT):c.2540dup (p.Asp848fs)
|
rs1748786633
|
|
NM_198253.3(TERT):c.2583-2A>C
|
rs111576740
|
|
NM_198253.3(TERT):c.2583-2A>T
|
|
|
NM_198253.3(TERT):c.2599G>A (p.Val867Met)
|
rs201159197
|
|
NM_198253.3(TERT):c.2630_2634del (p.Leu877fs)
|
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)
|
rs1748461171
|
|
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg)
|
rs387907250
|
|
NM_198253.3(TERT):c.2752del (p.Ala918fs)
|
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)
|
|
|
NM_198253.3(TERT):c.2808_2815del (p.Thr937fs)
|
|
|
NM_198253.3(TERT):c.2924_2925del (p.Phe975fs)
|
|
|
NM_198253.3(TERT):c.2943del (p.Lys981fs)
|
|
|
NM_198253.3(TERT):c.3073del (p.Val1025fs)
|
|
|
NM_198253.3(TERT):c.3087del (p.Thr1030fs)
|
|
|
NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer)
|
rs1554038257
|
|
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)
|
rs1747568641
|
|
NM_198253.3(TERT):c.3235del (p.Leu1079fs)
|
rs1270172263
|
|
NM_198253.3(TERT):c.329del (p.Gly110fs)
|
rs1554043093
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198253.3(TERT):c.489_493del (p.Pro164fs)
|
|
|
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)
|
|
|
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)
|
rs1554043041
|
|
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
|
|
|
NM_198253.3(TERT):c.598G>T (p.Glu200Ter)
|
rs1322987070
|
|
NM_198253.3(TERT):c.613dup (p.His205fs)
|
rs1751227147
|
|
NM_198253.3(TERT):c.688C>T (p.Arg230Ter)
|
rs989271195
|
|
NM_198253.3(TERT):c.735_745del (p.Glu245fs)
|
|
|
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)
|
|
|
NM_198253.3(TERT):c.767G>A (p.Trp256Ter)
|
rs2126687935
|
|
NM_198253.3(TERT):c.809dup (p.Cys271fs)
|
|
|
NM_198253.3(TERT):c.89_98del (p.Arg30fs)
|
|
|
NM_198253.3(TERT):c.923del (p.Pro308fs)
|
|
|
NM_198253.3(TERT):c.923dup (p.Ser309fs)
|
rs1191885727
|
|
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)
|
|
|
NM_198253.3(TERT):c.970del (p.Val324fs)
|
|
|
NM_198253.3(TERT):c.996del (p.Tyr333fs)
|
rs2126686445
|
|
NR_001566.1(TERC):n.407_408delinsAA
|
rs1553915580
|
|
NR_001566.3(TERC):n.107G>T
|
rs1553915617
|
|
NR_001566.3(TERC):n.108_111delCTGA
|
rs199422270
|
|
NR_001566.3(TERC):n.116C>T
|
rs199422272
|
|
NR_001566.3(TERC):n.118_121GCGG[1]
|
rs1553915612
|
|
NR_001566.3(TERC):n.143G>A
|
rs199422274
|
|
NR_001566.3(TERC):n.204C>G
|
rs199422277
|
|
NR_001566.3(TERC):n.212C>G
|
rs2108183105
|
|
NR_001566.3(TERC):n.325G>T
|
rs1777959964
|
|
NR_001566.3(TERC):n.69_74dup
|
rs1553915621
|
|
NR_001566.3(TERC):n.72C>G
|
rs199422265
|
|
NR_001566.3(TERC):n.98G>A
|
rs199422268
|
|