NM_002693.3(POLG):c.3483-19T>G
|
rs2307438
|
0.44213
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
NM_002693.3(POLG):c.3644-9A>G
|
rs115048121
|
0.00785
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
|
rs2307447
|
0.00542
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_002693.3(POLG):c.3644-14G>C
|
rs3087375
|
0.00449
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_002693.3(POLG):c.2735-15C>T
|
rs41544115
|
0.00390
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_002693.3(POLG):c.852C>T (p.Ile284=)
|
rs41540414
|
0.00345
|
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)
|
rs201016638
|
0.00316
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_002693.3(POLG):c.1949+20G>C
|
rs371964664
|
0.00117
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_002693.3(POLG):c.2165G>A (p.Arg722His)
|
rs185645212
|
0.00085
|
NM_002693.3(POLG):c.145C>G (p.Gln49Glu)
|
rs200132079
|
0.00084
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_002693.3(POLG):c.3274-19G>A
|
rs116925016
|
0.00043
|
NM_002693.3(POLG):c.1712+10G>A
|
rs55962804
|
0.00040
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
NM_002693.3(POLG):c.2427-12C>G
|
rs199815957
|
0.00035
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_002693.3(POLG):c.29C>T (p.Ala10Val)
|
rs774459114
|
0.00033
|
NM_002693.3(POLG):c.2071-14T>G
|
rs150088708
|
0.00032
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00032
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_002693.3(POLG):c.2149C>T (p.Leu717=)
|
rs779515404
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
NM_002693.3(POLG):c.2369G>A (p.Arg790His)
|
rs191490663
|
0.00021
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_002693.3(POLG):c.3273+19A>G
|
rs376643556
|
0.00017
|
NM_002693.3(POLG):c.1752A>C (p.Ala584=)
|
rs150929445
|
0.00016
|
NM_002693.3(POLG):c.186A>G (p.Leu62=)
|
rs745310138
|
0.00016
|
NM_002693.3(POLG):c.2266-8C>T
|
rs1203561072
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
NM_002693.3(POLG):c.2157+11C>T
|
rs56411159
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_002693.3(POLG):c.1320C>T (p.Asn440=)
|
rs369593231
|
0.00013
|
NM_002693.3(POLG):c.1389G>A (p.Leu463=)
|
rs150828914
|
0.00012
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
NM_002693.3(POLG):c.3644-16T>C
|
rs536522307
|
0.00012
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_002693.3(POLG):c.3294T>C (p.Asn1098=)
|
rs374224714
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys)
|
rs776437525
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)
|
rs201192905
|
0.00009
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_002693.3(POLG):c.1764C>T (p.Gly588=)
|
rs753839110
|
0.00008
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_002693.3(POLG):c.1977C>T (p.His659=)
|
rs62640030
|
0.00008
|
NM_002693.3(POLG):c.2157+15G>A
|
rs766521182
|
0.00008
|
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)
|
rs375935084
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)
|
rs146404260
|
0.00008
|
NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)
|
rs2307442
|
0.00008
|
NM_002693.3(POLG):c.398A>G (p.Asp133Gly)
|
rs540905618
|
0.00008
|
NM_002693.3(POLG):c.39C>T (p.Thr13=)
|
rs535213599
|
0.00008
|
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)
|
rs369175235
|
0.00008
|
NM_002693.3(POLG):c.744G>C (p.Glu248Asp)
|
rs753407311
|
0.00008
|
NM_002693.3(POLG):c.1586-11C>G
|
rs776821667
|
0.00007
|
NM_002693.3(POLG):c.1713-8G>C
|
rs369804413
|
0.00007
|
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu)
|
rs773994204
|
0.00007
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)
|
rs368587966
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)
|
rs757315161
|
0.00006
|
NM_002693.3(POLG):c.1122A>G (p.Arg374=)
|
rs372759057
|
0.00006
|
NM_002693.3(POLG):c.129G>A (p.Gln43=)
|
rs570989155
|
0.00006
|
NM_002693.3(POLG):c.1545C>T (p.Ile515=)
|
rs537156830
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser)
|
rs796052904
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_002693.3(POLG):c.1761G>A (p.Pro587=)
|
rs374805003
|
0.00006
|
NM_002693.3(POLG):c.1950-9T>C
|
rs780378329
|
0.00006
|
NM_002693.3(POLG):c.2158-13G>A
|
rs763930501
|
0.00006
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser)
|
rs373298169
|
0.00006
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_002693.3(POLG):c.3405C>T (p.Asp1135=)
|
rs2307445
|
0.00006
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00006
|
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)
|
rs771676521
|
0.00006
|
NM_002693.3(POLG):c.3643+18G>C
|
rs572636339
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)
|
rs750792237
|
0.00006
|
NM_002693.3(POLG):c.722C>T (p.Pro241Leu)
|
rs1452571273
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
NM_002693.3(POLG):c.1311C>T (p.Val437=)
|
rs62640035
|
0.00005
|
NM_002693.3(POLG):c.1499C>A (p.Ala500Asp)
|
rs780901280
|
0.00005
|
NM_002693.3(POLG):c.150G>A (p.Gln50=)
|
rs766501874
|
0.00005
|
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp)
|
rs756952607
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_002693.3(POLG):c.2508C>T (p.Leu836=)
|
rs183811122
|
0.00005
|
NM_002693.3(POLG):c.2638G>T (p.Ala880Ser)
|
rs760842197
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_002693.3(POLG):c.753T>A (p.Thr251=)
|
rs148099686
|
0.00005
|
NM_002693.3(POLG):c.1244T>G (p.Leu415Trp)
|
rs376895501
|
0.00004
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_002693.3(POLG):c.1586-5C>T
|
rs747270023
|
0.00004
|
NM_002693.3(POLG):c.1638C>T (p.Arg546=)
|
rs772461291
|
0.00004
|
NM_002693.3(POLG):c.1713-5C>T
|
rs148494026
|
0.00004
|
NM_002693.3(POLG):c.2050A>C (p.Asn684His)
|
rs772035848
|
0.00004
|
NM_002693.3(POLG):c.2069C>T (p.Thr690Met)
|
rs201677865
|
0.00004
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
NM_002693.3(POLG):c.2101G>A (p.Ala701Thr)
|
rs747214857
|
0.00004
|
NM_002693.3(POLG):c.2166T>C (p.Arg722=)
|
rs767669686
|
0.00004
|
NM_002693.3(POLG):c.222G>A (p.Leu74=)
|
rs758077958
|
0.00004
|
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)
|
rs770438363
|
0.00004
|
NM_002693.3(POLG):c.2266-15C>A
|
rs543286870
|
0.00004
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
NM_002693.3(POLG):c.2509T>C (p.Tyr837His)
|
rs544828395
|
0.00004
|
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)
|
rs1032930719
|
0.00004
|
NM_002693.3(POLG):c.2599-10C>T
|
rs769346219
|
0.00004
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
NM_002693.3(POLG):c.3003C>T (p.Gly1001=)
|
rs146064249
|
0.00004
|
NM_002693.3(POLG):c.3004G>A (p.Glu1002Lys)
|
rs757987765
|
0.00004
|
NM_002693.3(POLG):c.3104+3A>T
|
rs778573169
|
0.00004
|
NM_002693.3(POLG):c.3222G>T (p.Val1074=)
|
rs746773616
|
0.00004
|
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)
|
rs760170099
|
0.00004
|
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)
|
rs536732038
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_002693.3(POLG):c.3451C>T (p.Leu1151=)
|
rs769193603
|
0.00004
|
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro)
|
rs569063066
|
0.00004
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala)
|
rs749355151
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_002693.3(POLG):c.487C>T (p.Pro163Ser)
|
rs758454871
|
0.00004
|
NM_002693.3(POLG):c.863G>A (p.Arg288His)
|
rs796052902
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu)
|
rs587780420
|
0.00003
|
NM_002693.3(POLG):c.1434-17G>A
|
rs373716128
|
0.00003
|
NM_002693.3(POLG):c.1449C>T (p.Pro483=)
|
rs762247209
|
0.00003
|
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr)
|
rs769637557
|
0.00003
|
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr)
|
rs745506700
|
0.00003
|
NM_002693.3(POLG):c.1596C>T (p.Pro532=)
|
rs199856571
|
0.00003
|
NM_002693.3(POLG):c.1620A>G (p.Gln540=)
|
rs958701683
|
0.00003
|
NM_002693.3(POLG):c.1627G>A (p.Val543Ile)
|
rs763775923
|
0.00003
|
NM_002693.3(POLG):c.1637G>A (p.Arg546His)
|
rs773418477
|
0.00003
|
NM_002693.3(POLG):c.1728C>A (p.Leu576=)
|
rs763204640
|
0.00003
|
NM_002693.3(POLG):c.177G>T (p.Pro59=)
|
rs372383277
|
0.00003
|
NM_002693.3(POLG):c.1780C>T (p.Leu594=)
|
rs778172428
|
0.00003
|
NM_002693.3(POLG):c.1830C>T (p.Phe610=)
|
rs771566653
|
0.00003
|
NM_002693.3(POLG):c.184C>T (p.Leu62=)
|
rs144033465
|
0.00003
|
NM_002693.3(POLG):c.1949+3A>G
|
rs1057523710
|
0.00003
|
NM_002693.3(POLG):c.1956C>T (p.Ile652=)
|
rs757860628
|
0.00003
|
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)
|
rs376306906
|
0.00003
|
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr)
|
rs1049107490
|
0.00003
|
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser)
|
rs796052883
|
0.00003
|
NM_002693.3(POLG):c.2152G>T (p.Ala718Ser)
|
rs755783536
|
0.00003
|
NM_002693.3(POLG):c.2265+6T>A
|
rs746650160
|
0.00003
|
NM_002693.3(POLG):c.2420G>A (p.Arg807His)
|
rs796052887
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002693.3(POLG):c.2583C>T (p.Thr861=)
|
rs372456693
|
0.00003
|
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)
|
rs748777396
|
0.00003
|
NM_002693.3(POLG):c.2704C>G (p.Leu902Val)
|
rs745528696
|
0.00003
|
NM_002693.3(POLG):c.2814T>C (p.Thr938=)
|
rs771822843
|
0.00003
|
NM_002693.3(POLG):c.2884G>A (p.Ala962Thr)
|
rs760305377
|
0.00003
|
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp)
|
rs762972003
|
0.00003
|
NM_002693.3(POLG):c.2937T>C (p.Ala979=)
|
rs779363917
|
0.00003
|
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala)
|
rs754202777
|
0.00003
|
NM_002693.3(POLG):c.2959G>A (p.Ala987Thr)
|
rs200258601
|
0.00003
|
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)
|
rs551811489
|
0.00003
|
NM_002693.3(POLG):c.2982-9T>G
|
rs774707044
|
0.00003
|
NM_002693.3(POLG):c.2986C>T (p.Arg996Trp)
|
rs202229893
|
0.00003
|
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)
|
rs770236576
|
0.00003
|
NM_002693.3(POLG):c.3090A>G (p.Arg1030=)
|
rs149429142
|
0.00003
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
NM_002693.3(POLG):c.3212G>A (p.Arg1071His)
|
rs774851005
|
0.00003
|
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)
|
rs530757118
|
0.00003
|
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr)
|
rs779956099
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)
|
rs1405268319
|
0.00003
|
NM_002693.3(POLG):c.3427G>C (p.Glu1143Gln)
|
rs765123635
|
0.00003
|
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr)
|
rs879135314
|
0.00003
|
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)
|
rs1057521589
|
0.00003
|
NM_002693.3(POLG):c.3483-30_3483-16dup
|
rs371909334
|
0.00003
|
NM_002693.3(POLG):c.3519G>A (p.Leu1173=)
|
rs953889846
|
0.00003
|
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)
|
rs763205408
|
0.00003
|
NM_002693.3(POLG):c.3651G>A (p.Ala1217=)
|
rs775048930
|
0.00003
|
NM_002693.3(POLG):c.388C>T (p.Leu130Phe)
|
rs201261842
|
0.00003
|
NM_002693.3(POLG):c.60A>C (p.Pro20=)
|
rs944054671
|
0.00003
|
NM_002693.3(POLG):c.629C>T (p.Thr210Ile)
|
rs1450989575
|
0.00003
|
NM_002693.3(POLG):c.739C>G (p.Leu247Val)
|
rs754696832
|
0.00003
|
NM_002693.3(POLG):c.895A>G (p.Met299Val)
|
rs140262282
|
0.00003
|
NM_002693.3(POLG):c.907G>A (p.Gly303Arg)
|
rs749799663
|
0.00003
|
NM_002693.3(POLG):c.1023+11A>G
|
rs1274510765
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.1250+5G>T
|
rs751221993
|
0.00002
|
NM_002693.3(POLG):c.1262C>T (p.Pro421Leu)
|
rs752240321
|
0.00002
|
NM_002693.3(POLG):c.1350C>T (p.Gly450=)
|
rs752398019
|
0.00002
|
NM_002693.3(POLG):c.1434-18dup
|
rs1064795188
|
0.00002
|
NM_002693.3(POLG):c.1529C>T (p.Ala510Val)
|
rs1252604834
|
0.00002
|
NM_002693.3(POLG):c.1585+18G>A
|
rs1371422250
|
0.00002
|
NM_002693.3(POLG):c.1590C>T (p.Leu530=)
|
rs141422952
|
0.00002
|
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)
|
rs767216577
|
0.00002
|
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)
|
rs754586219
|
0.00002
|
NM_002693.3(POLG):c.1626T>C (p.Asp542=)
|
rs376576519
|
0.00002
|
NM_002693.3(POLG):c.1709C>T (p.Pro570Leu)
|
rs780695124
|
0.00002
|
NM_002693.3(POLG):c.1713-4G>A
|
rs201857960
|
0.00002
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00002
|
NM_002693.3(POLG):c.1744G>A (p.Asp582Asn)
|
rs746560565
|
0.00002
|
NM_002693.3(POLG):c.178C>A (p.Gln60Lys)
|
rs780379693
|
0.00002
|
NM_002693.3(POLG):c.17G>C (p.Trp6Ser)
|
rs1057524249
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys)
|
rs144374017
|
0.00002
|
NM_002693.3(POLG):c.1867T>C (p.Leu623=)
|
rs548491099
|
0.00002
|
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp)
|
rs758438414
|
0.00002
|
NM_002693.3(POLG):c.1889A>G (p.Asn630Ser)
|
rs796052905
|
0.00002
|
NM_002693.3(POLG):c.1910G>A (p.Gly637Asp)
|
rs748925763
|
0.00002
|
NM_002693.3(POLG):c.1929T>C (p.Ala643=)
|
rs745800212
|
0.00002
|
NM_002693.3(POLG):c.1965G>A (p.Leu655=)
|
rs543910258
|
0.00002
|
NM_002693.3(POLG):c.1983C>T (p.Leu661=)
|
rs948431638
|
0.00002
|
NM_002693.3(POLG):c.2019C>T (p.Ala673=)
|
rs557179508
|
0.00002
|
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser)
|
rs538978071
|
0.00002
|
NM_002693.3(POLG):c.2115G>A (p.Met705Ile)
|
rs1302161574
|
0.00002
|
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln)
|
rs1015705626
|
0.00002
|
NM_002693.3(POLG):c.2164C>T (p.Arg722Cys)
|
rs763824242
|
0.00002
|
NM_002693.3(POLG):c.2190C>G (p.Pro730=)
|
rs146045546
|
0.00002
|
NM_002693.3(POLG):c.2266-19C>T
|
rs780096431
|
0.00002
|
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp)
|
rs149058889
|
0.00002
|
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys)
|
rs775168496
|
0.00002
|
NM_002693.3(POLG):c.2446C>G (p.Leu816Val)
|
rs748262645
|
0.00002
|
NM_002693.3(POLG):c.2468G>A (p.Arg823His)
|
rs751172552
|
0.00002
|
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln)
|
rs779723962
|
0.00002
|
NM_002693.3(POLG):c.2613C>T (p.Gly871=)
|
rs372878701
|
0.00002
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
NM_002693.3(POLG):c.2727C>T (p.Gly909=)
|
rs752611524
|
0.00002
|
NM_002693.3(POLG):c.2735-4C>G
|
rs1417499460
|
0.00002
|
NM_002693.3(POLG):c.2829T>C (p.Arg943=)
|
rs774005462
|
0.00002
|
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys)
|
rs768653086
|
0.00002
|
NM_002693.3(POLG):c.2924A>G (p.Gln975Arg)
|
rs972611793
|
0.00002
|
NM_002693.3(POLG):c.2993C>T (p.Ser998Leu)
|
rs79840247
|
0.00002
|
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)
|
rs1412887168
|
0.00002
|
NM_002693.3(POLG):c.3030C>T (p.Leu1010=)
|
rs760607209
|
0.00002
|
NM_002693.3(POLG):c.3077G>A (p.Arg1026His)
|
rs777038915
|
0.00002
|
NM_002693.3(POLG):c.3104+8C>A
|
rs754615624
|
0.00002
|
NM_002693.3(POLG):c.3203A>C (p.Asp1068Ala)
|
rs774888597
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_002693.3(POLG):c.3219G>A (p.Pro1073=)
|
rs770800532
|
0.00002
|
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)
|
rs369716454
|
0.00002
|
NM_002693.3(POLG):c.3273+8G>A
|
rs776468044
|
0.00002
|
NM_002693.3(POLG):c.3368T>C (p.Phe1123Ser)
|
rs1441495346
|
0.00002
|
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys)
|
rs755544706
|
0.00002
|
NM_002693.3(POLG):c.33C>T (p.Gly11=)
|
rs1482684558
|
0.00002
|
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)
|
rs548076633
|
0.00002
|
NM_002693.3(POLG):c.3497A>G (p.Tyr1166Cys)
|
rs754900596
|
0.00002
|
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)
|
rs770149949
|
0.00002
|
NM_002693.3(POLG):c.3549C>T (p.Val1183=)
|
rs777231247
|
0.00002
|
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)
|
rs199678775
|
0.00002
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
NM_002693.3(POLG):c.3612T>A (p.Thr1204=)
|
rs1300892439
|
0.00002
|
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)
|
rs139562274
|
0.00002
|
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr)
|
rs779072487
|
0.00002
|
NM_002693.3(POLG):c.3G>C (p.Met1Ile)
|
rs878877754
|
0.00002
|
NM_002693.3(POLG):c.452T>C (p.Leu151Pro)
|
rs749018627
|
0.00002
|
NM_002693.3(POLG):c.516G>A (p.Ala172=)
|
rs1028326668
|
0.00002
|
NM_002693.3(POLG):c.544G>C (p.Gly182Arg)
|
rs768242927
|
0.00002
|
NM_002693.3(POLG):c.547G>C (p.Glu183Gln)
|
rs762582785
|
0.00002
|
NM_002693.3(POLG):c.56T>C (p.Val19Ala)
|
rs770885465
|
0.00002
|
NM_002693.3(POLG):c.687G>A (p.Val229=)
|
rs768884865
|
0.00002
|
NM_002693.3(POLG):c.713A>G (p.Gln238Arg)
|
rs56410699
|
0.00002
|
NM_002693.3(POLG):c.903C>A (p.Ile301=)
|
rs769104909
|
0.00002
|
NM_002693.3(POLG):c.927C>T (p.Arg309=)
|
rs370964643
|
0.00002
|
NM_002693.3(POLG):c.1022C>T (p.Ala341Val)
|
rs746639234
|
0.00001
|
NM_002693.3(POLG):c.1023+16C>T
|
rs748111279
|
0.00001
|
NM_002693.3(POLG):c.1023+17G>A
|
rs778750911
|
0.00001
|
NM_002693.3(POLG):c.1024-11T>A
|
rs111879000
|
0.00001
|
NM_002693.3(POLG):c.1054A>G (p.Ser352Gly)
|
rs1326621426
|
0.00001
|
NM_002693.3(POLG):c.1057G>A (p.Val353Ile)
|
rs1319774669
|
0.00001
|
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser)
|
rs148697152
|
0.00001
|
NM_002693.3(POLG):c.1062C>T (p.Asn354=)
|
rs778662837
|
0.00001
|
NM_002693.3(POLG):c.1084C>G (p.Leu362Val)
|
rs763248358
|
0.00001
|
NM_002693.3(POLG):c.1087T>C (p.Tyr363His)
|
rs1380215532
|
0.00001
|
NM_002693.3(POLG):c.1090G>A (p.Val364Ile)
|
rs2055556252
|
0.00001
|
NM_002693.3(POLG):c.1098G>A (p.Gly366=)
|
rs1195508608
|
0.00001
|
NM_002693.3(POLG):c.1100C>T (p.Pro367Leu)
|
rs751761350
|
0.00001
|
NM_002693.3(POLG):c.1141A>G (p.Thr381Ala)
|
rs772748692
|
0.00001
|
NM_002693.3(POLG):c.1149G>A (p.Lys383=)
|
rs767256165
|
0.00001
|
NM_002693.3(POLG):c.114G>T (p.Gly38=)
|
rs794727268
|
0.00001
|
NM_002693.3(POLG):c.1157G>A (p.Arg386His)
|
rs1394411503
|
0.00001
|
NM_002693.3(POLG):c.1164C>T (p.Asn388=)
|
rs376649412
|
0.00001
|
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)
|
rs749750052
|
0.00001
|
NM_002693.3(POLG):c.1170+16G>A
|
rs770920449
|
0.00001
|
NM_002693.3(POLG):c.1170+9C>T
|
rs373168754
|
0.00001
|
NM_002693.3(POLG):c.1171-11C>T
|
rs886051525
|
0.00001
|
NM_002693.3(POLG):c.1189G>A (p.Ala397Thr)
|
rs748412462
|
0.00001
|
NM_002693.3(POLG):c.1197C>T (p.Asp399=)
|
rs1406931016
|
0.00001
|
NM_002693.3(POLG):c.1236G>A (p.Pro412=)
|
rs750875156
|
0.00001
|
NM_002693.3(POLG):c.1250+15A>T
|
rs763678853
|
0.00001
|
NM_002693.3(POLG):c.1251-9G>T
|
rs1201515627
|
0.00001
|
NM_002693.3(POLG):c.1251G>A (p.Arg417=)
|
rs1567191509
|
0.00001
|
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)
|
rs758112770
|
0.00001
|
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)
|
rs774610098
|
0.00001
|
NM_002693.3(POLG):c.1300T>C (p.Tyr434His)
|
rs775538075
|
0.00001
|
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys)
|
rs747485523
|
0.00001
|
NM_002693.3(POLG):c.1349G>T (p.Gly450Val)
|
rs757804090
|
0.00001
|
NM_002693.3(POLG):c.1368G>A (p.Gln456=)
|
rs1555453664
|
0.00001
|
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp)
|
rs766242100
|
0.00001
|
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln)
|
rs372911506
|
0.00001
|
NM_002693.3(POLG):c.1433+11C>A
|
rs2055533348
|
0.00001
|
NM_002693.3(POLG):c.1433+14G>A
|
rs1057522174
|
0.00001
|
NM_002693.3(POLG):c.1433+2T>C
|
rs920850257
|
0.00001
|
NM_002693.3(POLG):c.1443A>C (p.Glu481Asp)
|
rs1325331080
|
0.00001
|
NM_002693.3(POLG):c.1448C>T (p.Pro483Leu)
|
rs767900699
|
0.00001
|
NM_002693.3(POLG):c.1477C>G (p.Gln493Glu)
|
rs1404711461
|
0.00001
|
NM_002693.3(POLG):c.148C>A (p.Gln50Lys)
|
rs752556685
|
0.00001
|
NM_002693.3(POLG):c.1512G>A (p.Lys504=)
|
rs1168275019
|
0.00001
|
NM_002693.3(POLG):c.1540C>G (p.Pro514Ala)
|
rs756376617
|
0.00001
|
NM_002693.3(POLG):c.1543A>G (p.Ile515Val)
|
rs748919988
|
0.00001
|
NM_002693.3(POLG):c.1548G>A (p.Glu516=)
|
rs555939259
|
0.00001
|
NM_002693.3(POLG):c.1565G>C (p.Gly522Ala)
|
rs769410234
|
0.00001
|
NM_002693.3(POLG):c.1586-10A>G
|
rs1060504038
|
0.00001
|
NM_002693.3(POLG):c.1586-20G>A
|
rs768707883
|
0.00001
|
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)
|
rs754246294
|
0.00001
|
NM_002693.3(POLG):c.159_167dup (p.55QPQ[3])
|
rs776709929
|
0.00001
|
NM_002693.3(POLG):c.1600A>G (p.Ser534Gly)
|
rs201097813
|
0.00001
|
NM_002693.3(POLG):c.162G>A (p.Gln54=)
|
rs796052878
|
0.00001
|
NM_002693.3(POLG):c.1639G>A (p.Ala547Thr)
|
rs779353857
|
0.00001
|
NM_002693.3(POLG):c.163C>T (p.Gln55Ter)
|
rs2055626123
|
0.00001
|
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu)
|
rs1227630175
|
0.00001
|
NM_002693.3(POLG):c.1655T>C (p.Leu552Pro)
|
rs2055522665
|
0.00001
|
NM_002693.3(POLG):c.1663A>T (p.Thr555Ser)
|
rs145496284
|
0.00001
|
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)
|
rs1481695998
|
0.00001
|
NM_002693.3(POLG):c.1671G>C (p.Glu557Asp)
|
rs780365511
|
0.00001
|
NM_002693.3(POLG):c.1672C>G (p.Leu558Val)
|
rs1411219168
|
0.00001
|
NM_002693.3(POLG):c.1692G>A (p.Gln564=)
|
rs149687731
|
0.00001
|
NM_002693.3(POLG):c.1712+18C>T
|
rs759511776
|
0.00001
|
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp)
|
rs774474723
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln)
|
rs746406535
|
0.00001
|
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)
|
rs1001570418
|
0.00001
|
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro)
|
rs1064796458
|
0.00001
|
NM_002693.3(POLG):c.1870G>A (p.Val624Met)
|
rs1362000189
|
0.00001
|
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)
|
rs121918046
|
0.00001
|
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)
|
rs754245040
|
0.00001
|
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln)
|
rs201871736
|
0.00001
|
NM_002693.3(POLG):c.1887C>T (p.Asp629=)
|
rs886051524
|
0.00001
|
NM_002693.3(POLG):c.188C>T (p.Ser63Phe)
|
rs960812250
|
0.00001
|
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr)
|
rs908875872
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)
|
rs917815816
|
0.00001
|
NM_002693.3(POLG):c.191C>G (p.Ser64Trp)
|
rs1397887879
|
0.00001
|
NM_002693.3(POLG):c.1926A>T (p.Ser642=)
|
rs2055502648
|
0.00001
|
NM_002693.3(POLG):c.1936G>T (p.Val646Phe)
|
rs757131755
|
0.00001
|
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)
|
rs796052906
|
0.00001
|
NM_002693.3(POLG):c.1946A>T (p.Tyr649Phe)
|
rs972392438
|
0.00001
|
NM_002693.3(POLG):c.1949+14C>T
|
rs754016118
|
0.00001
|
NM_002693.3(POLG):c.1950-12T>C
|
rs1044074988
|
0.00001
|
NM_002693.3(POLG):c.1974G>C (p.Lys658Asn)
|
rs1229982179
|
0.00001
|
NM_002693.3(POLG):c.1976A>C (p.His659Pro)
|
rs1325564562
|
0.00001
|
NM_002693.3(POLG):c.199G>A (p.Gly67Arg)
|
rs1415744247
|
0.00001
|
NM_002693.3(POLG):c.1A>G (p.Met1Val)
|
rs201786897
|
0.00001
|
NM_002693.3(POLG):c.200G>C (p.Gly67Ala)
|
rs1399456619
|
0.00001
|
NM_002693.3(POLG):c.2026G>A (p.Ala676Thr)
|
rs752293938
|
0.00001
|
NM_002693.3(POLG):c.2031G>A (p.Glu677=)
|
rs753362163
|
0.00001
|
NM_002693.3(POLG):c.2033A>G (p.Glu678Gly)
|
rs1469478675
|
0.00001
|
NM_002693.3(POLG):c.2038C>T (p.Leu680=)
|
rs373066911
|
0.00001
|
NM_002693.3(POLG):c.2040G>A (p.Leu680=)
|
rs367740265
|
0.00001
|
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser)
|
rs1328436909
|
0.00001
|
NM_002693.3(POLG):c.2070+11G>A
|
rs1030112179
|
0.00001
|
NM_002693.3(POLG):c.2070+14C>G
|
rs1057520351
|
0.00001
|
NM_002693.3(POLG):c.2071-16C>T
|
rs1426437060
|
0.00001
|
NM_002693.3(POLG):c.2100G>A (p.Glu700=)
|
rs771321898
|
0.00001
|
NM_002693.3(POLG):c.2118G>A (p.Glu706=)
|
rs748699275
|
0.00001
|
NM_002693.3(POLG):c.2124G>A (p.Leu708=)
|
rs1372249434
|
0.00001
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
NM_002693.3(POLG):c.2157+10G>T
|
rs751357356
|
0.00001
|
NM_002693.3(POLG):c.2157+12G>A
|
rs762919106
|
0.00001
|
NM_002693.3(POLG):c.2157+14C>T
|
rs989119619
|
0.00001
|
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg)
|
rs774599342
|
0.00001
|
NM_002693.3(POLG):c.2194T>C (p.Tyr732His)
|
rs1470138488
|
0.00001
|
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys)
|
rs760305786
|
0.00001
|
NM_002693.3(POLG):c.2201A>G (p.His734Arg)
|
rs56119329
|
0.00001
|
NM_002693.3(POLG):c.220T>C (p.Leu74=)
|
rs1241802528
|
0.00001
|
NM_002693.3(POLG):c.2215T>C (p.Tyr739His)
|
rs796052885
|
0.00001
|
NM_002693.3(POLG):c.2216A>T (p.Tyr739Phe)
|
rs1365039710
|
0.00001
|
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)
|
rs751736420
|
0.00001
|
NM_002693.3(POLG):c.2224G>A (p.Val742Met)
|
rs147827654
|
0.00001
|
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)
|
rs1446536384
|
0.00001
|
NM_002693.3(POLG):c.2265+7C>T
|
rs371189501
|
0.00001
|
NM_002693.3(POLG):c.2266-3C>T
|
rs777809569
|
0.00001
|
NM_002693.3(POLG):c.2268T>C (p.Asp756=)
|
rs758644254
|
0.00001
|
NM_002693.3(POLG):c.2392A>C (p.Ile798Leu)
|
rs796052873
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002693.3(POLG):c.2426+17G>A
|
rs572105844
|
0.00001
|
NM_002693.3(POLG):c.2427-14G>C
|
rs1247657513
|
0.00001
|
NM_002693.3(POLG):c.2427-16T>C
|
rs769407407
|
0.00001
|
NM_002693.3(POLG):c.2427-17G>A
|
rs775367938
|
0.00001
|
NM_002693.3(POLG):c.2427-20C>T
|
rs1567187412
|
0.00001
|
NM_002693.3(POLG):c.2444G>T (p.Trp815Leu)
|
rs2055404128
|
0.00001
|
NM_002693.3(POLG):c.2467C>T (p.Arg823Cys)
|
rs757835879
|
0.00001
|
NM_002693.3(POLG):c.2471C>T (p.Ala824Val)
|
rs1378795521
|
0.00001
|
NM_002693.3(POLG):c.2474T>C (p.Val825Ala)
|
rs763453929
|
0.00001
|
NM_002693.3(POLG):c.2480+17G>A
|
rs762669285
|
0.00001
|
NM_002693.3(POLG):c.2480+5G>C
|
rs1229969606
|
0.00001
|
NM_002693.3(POLG):c.2481-6C>T
|
rs752226219
|
0.00001
|
NM_002693.3(POLG):c.2481-9C>A
|
rs369422789
|
0.00001
|
NM_002693.3(POLG):c.2483A>G (p.His828Arg)
|
rs533807211
|
0.00001
|
NM_002693.3(POLG):c.2496T>G (p.Asp832Glu)
|
rs762985241
|
0.00001
|
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys)
|
rs778190998
|
0.00001
|
NM_002693.3(POLG):c.2529A>G (p.Gln843=)
|
rs369395629
|
0.00001
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
NM_002693.3(POLG):c.255G>A (p.Glu85=)
|
rs1332983041
|
0.00001
|
NM_002693.3(POLG):c.2563G>T (p.Val855Leu)
|
rs771254207
|
0.00001
|
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)
|
rs759128787
|
0.00001
|
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)
|
rs121918050
|
0.00001
|
NM_002693.3(POLG):c.2598+12C>T
|
rs1243982675
|
0.00001
|
NM_002693.3(POLG):c.2598+15T>G
|
rs1057520997
|
0.00001
|
NM_002693.3(POLG):c.2599-14C>T
|
rs587781115
|
0.00001
|
NM_002693.3(POLG):c.2599C>G (p.Pro867Ala)
|
rs1230595198
|
0.00001
|
NM_002693.3(POLG):c.2600C>G (p.Pro867Arg)
|
rs780880601
|
0.00001
|
NM_002693.3(POLG):c.2608G>C (p.Val870Leu)
|
rs1329611992
|
0.00001
|
NM_002693.3(POLG):c.261C>A (p.Ile87=)
|
rs770543008
|
0.00001
|
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)
|
rs758402960
|
0.00001
|
NM_002693.3(POLG):c.2640C>T (p.Ala880=)
|
rs1236111354
|
0.00001
|
NM_002693.3(POLG):c.2651A>G (p.Tyr884Cys)
|
rs1057519140
|
0.00001
|
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)
|
rs769210629
|
0.00001
|
NM_002693.3(POLG):c.2682A>G (p.Gln894=)
|
rs1212288449
|
0.00001
|
NM_002693.3(POLG):c.2688G>A (p.Leu896=)
|
rs769306875
|
0.00001
|
NM_002693.3(POLG):c.2713G>A (p.Ala905Thr)
|
rs747156457
|
0.00001
|
NM_002693.3(POLG):c.2721T>C (p.Phe907=)
|
rs746863564
|
0.00001
|
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser)
|
rs758419140
|
0.00001
|
NM_002693.3(POLG):c.2734+13C>T
|
rs756271228
|
0.00001
|
NM_002693.3(POLG):c.2734+15G>A
|
rs1348282253
|
0.00001
|
NM_002693.3(POLG):c.2734+7A>C
|
rs780023979
|
0.00001
|
NM_002693.3(POLG):c.2778C>G (p.Ser926Arg)
|
rs1347519358
|
0.00001
|
NM_002693.3(POLG):c.2782G>A (p.Gly928Ser)
|
rs759944038
|
0.00001
|
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)
|
rs765916932
|
0.00001
|
NM_002693.3(POLG):c.2808C>G (p.Ala936=)
|
rs1370721886
|
0.00001
|
NM_002693.3(POLG):c.2815G>A (p.Val939Met)
|
rs748045254
|
0.00001
|
NM_002693.3(POLG):c.282G>A (p.Met94Ile)
|
rs753739487
|
0.00001
|
NM_002693.3(POLG):c.2860A>G (p.Ile954Val)
|
rs778008501
|
0.00001
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)
|
rs753160398
|
0.00001
|
NM_002693.3(POLG):c.2871T>C (p.Ala957=)
|
rs376459207
|
0.00001
|
NM_002693.3(POLG):c.2891G>A (p.Arg964His)
|
rs767339769
|
0.00001
|
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
|
rs142347031
|
0.00001
|
NM_002693.3(POLG):c.2964C>T (p.Ala988=)
|
rs565520786
|
0.00001
|
NM_002693.3(POLG):c.2978G>A (p.Arg993His)
|
rs546883829
|
0.00001
|
NM_002693.3(POLG):c.297G>A (p.Ala99=)
|
rs953515097
|
0.00001
|
NM_002693.3(POLG):c.2982-3C>T
|
rs538731397
|
0.00001
|
NM_002693.3(POLG):c.2982-7C>T
|
rs1230504949
|
0.00001
|
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys)
|
rs749458217
|
0.00001
|
NM_002693.3(POLG):c.3001G>A (p.Gly1001Ser)
|
rs1469484812
|
0.00001
|
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp)
|
rs990343459
|
0.00001
|
NM_002693.3(POLG):c.3012G>T (p.Leu1004=)
|
rs989355152
|
0.00001
|
NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys)
|
rs142732551
|
0.00001
|
NM_002693.3(POLG):c.3024G>A (p.Leu1008=)
|
rs139488968
|
0.00001
|
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)
|
rs1307399071
|
0.00001
|
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly)
|
rs764195223
|
0.00001
|
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)
|
rs763290547
|
0.00001
|
NM_002693.3(POLG):c.30C>T (p.Ala10=)
|
rs1060504037
|
0.00001
|
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys)
|
rs201014720
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_002693.3(POLG):c.3105-5C>T
|
rs759708686
|
0.00001
|
NM_002693.3(POLG):c.3105-6C>T
|
rs2055355030
|
0.00001
|
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln)
|
rs768028281
|
0.00001
|
NM_002693.3(POLG):c.3162G>A (p.Glu1054=)
|
rs757263896
|
0.00001
|
NM_002693.3(POLG):c.3170T>C (p.Met1057Thr)
|
rs966144250
|
0.00001
|
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)
|
rs1057523186
|
0.00001
|
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)
|
rs762593265
|
0.00001
|
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)
|
rs1381291951
|
0.00001
|
NM_002693.3(POLG):c.3228C>G (p.Gly1076=)
|
rs777893046
|
0.00001
|
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)
|
rs767708989
|
0.00001
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu)
|
rs373316463
|
0.00001
|
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)
|
rs763312940
|
0.00001
|
NM_002693.3(POLG):c.3259G>A (p.Ala1087Thr)
|
rs752254929
|
0.00001
|
NM_002693.3(POLG):c.3273+17G>A
|
rs368578878
|
0.00001
|
NM_002693.3(POLG):c.3273+6T>A
|
rs886051522
|
0.00001
|
NM_002693.3(POLG):c.3273+7T>A
|
rs1399265188
|
0.00001
|
NM_002693.3(POLG):c.3274-4C>T
|
rs760343963
|
0.00001
|
NM_002693.3(POLG):c.3276T>G (p.Phe1092Leu)
|
rs74034411
|
0.00001
|
NM_002693.3(POLG):c.3279G>A (p.Met1093Ile)
|
rs1238487198
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002693.3(POLG):c.3303A>C (p.Val1101=)
|
rs540638961
|
0.00001
|
NM_002693.3(POLG):c.330C>T (p.His110=)
|
rs376266682
|
0.00001
|
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)
|
rs1354582663
|
0.00001
|
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
|
rs765949668
|
0.00001
|
NM_002693.3(POLG):c.3324C>T (p.Tyr1108=)
|
rs1164797481
|
0.00001
|
NM_002693.3(POLG):c.3325T>C (p.Leu1109=)
|
rs796052912
|
0.00001
|
NM_002693.3(POLG):c.3334A>T (p.Met1112Leu)
|
rs767168260
|
0.00001
|
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
|
rs201144044
|
0.00001
|
NM_002693.3(POLG):c.3363A>G (p.Glu1121=)
|
rs773341540
|
0.00001
|
NM_002693.3(POLG):c.337T>A (p.Trp113Arg)
|
rs746450616
|
0.00001
|
NM_002693.3(POLG):c.3399C>T (p.Ile1133=)
|
rs1478045929
|
0.00001
|
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)
|
rs56047213
|
0.00001
|
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)
|
rs755725702
|
0.00001
|
NM_002693.3(POLG):c.3413G>A (p.Arg1138His)
|
rs756879546
|
0.00001
|
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)
|
rs149099318
|
0.00001
|
NM_002693.3(POLG):c.3443G>A (p.Arg1148His)
|
rs145004638
|
0.00001
|
NM_002693.3(POLG):c.3463A>G (p.Ile1155Val)
|
rs749640920
|
0.00001
|
NM_002693.3(POLG):c.3468C>T (p.Thr1156=)
|
rs566373471
|
0.00001
|
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)
|
rs1278715599
|
0.00001
|
NM_002693.3(POLG):c.3482+15T>C
|
rs1171976544
|
0.00001
|
NM_002693.3(POLG):c.3482+16G>A
|
rs1324465747
|
0.00001
|
NM_002693.3(POLG):c.3482+8G>C
|
rs756847018
|
0.00001
|
NM_002693.3(POLG):c.3483-12_3498dup
|
rs2055313419
|
0.00001
|
NM_002693.3(POLG):c.3483-17G>C
|
rs1053731071
|
0.00001
|
NM_002693.3(POLG):c.3483-4_3497del
|
rs756325504
|
0.00001
|
NM_002693.3(POLG):c.3498C>T (p.Tyr1166=)
|
rs1427798436
|
0.00001
|
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)
|
rs753864625
|
0.00001
|
NM_002693.3(POLG):c.3522C>T (p.Pro1174=)
|
rs751676137
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.352G>A (p.Val118Met)
|
rs778608349
|
0.00001
|
NM_002693.3(POLG):c.3531C>T (p.Val1177=)
|
rs1060504039
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)
|
rs1131691575
|
0.00001
|
NM_002693.3(POLG):c.355C>T (p.Pro119Ser)
|
rs1420577605
|
0.00001
|
NM_002693.3(POLG):c.3576A>G (p.Glu1192=)
|
rs369438927
|
0.00001
|
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)
|
rs765344513
|
0.00001
|
NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg)
|
rs1426811174
|
0.00001
|
NM_002693.3(POLG):c.360G>T (p.Leu120Phe)
|
rs886043905
|
0.00001
|
NM_002693.3(POLG):c.3613G>A (p.Gly1205Arg)
|
rs2055308219
|
0.00001
|
NM_002693.3(POLG):c.3628T>C (p.Tyr1210His)
|
rs747627023
|
0.00001
|
NM_002693.3(POLG):c.3631G>A (p.Gly1211Arg)
|
rs768181189
|
0.00001
|
NM_002693.3(POLG):c.3638C>T (p.Pro1213Leu)
|
rs1338265836
|
0.00001
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
NM_002693.3(POLG):c.3643+14A>G
|
rs545559636
|
0.00001
|
NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly)
|
rs776506626
|
0.00001
|
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)
|
rs775517153
|
0.00001
|
NM_002693.3(POLG):c.3687C>T (p.Gly1229=)
|
rs1483948890
|
0.00001
|
NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg)
|
rs1024234712
|
0.00001
|
NM_002693.3(POLG):c.384G>T (p.Pro128=)
|
rs558958919
|
0.00001
|
NM_002693.3(POLG):c.38C>G (p.Thr13Ser)
|
rs1199924512
|
0.00001
|
NM_002693.3(POLG):c.395G>A (p.Gly132Glu)
|
rs1060500774
|
0.00001
|
NM_002693.3(POLG):c.402C>G (p.Asn134Lys)
|
rs759939229
|
0.00001
|
NM_002693.3(POLG):c.413A>C (p.His138Pro)
|
rs766932926
|
0.00001
|
NM_002693.3(POLG):c.423C>T (p.Leu141=)
|
rs761417163
|
0.00001
|
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)
|
rs1056580076
|
0.00001
|
NM_002693.3(POLG):c.453G>A (p.Leu151=)
|
rs779981823
|
0.00001
|
NM_002693.3(POLG):c.468G>A (p.Leu156=)
|
rs1567194019
|
0.00001
|
NM_002693.3(POLG):c.475C>G (p.Gln159Glu)
|
rs1487941216
|
0.00001
|
NM_002693.3(POLG):c.479C>T (p.Ala160Val)
|
rs1304711656
|
0.00001
|
NM_002693.3(POLG):c.484C>T (p.Leu162=)
|
rs375445567
|
0.00001
|
NM_002693.3(POLG):c.488C>T (p.Pro163Leu)
|
rs752892262
|
0.00001
|
NM_002693.3(POLG):c.490C>G (p.Pro164Ala)
|
rs779208296
|
0.00001
|
NM_002693.3(POLG):c.528C>T (p.Thr176=)
|
rs750915606
|
0.00001
|
NM_002693.3(POLG):c.542A>C (p.Glu181Ala)
|
rs761349383
|
0.00001
|
NM_002693.3(POLG):c.543G>A (p.Glu181=)
|
rs773882973
|
0.00001
|
NM_002693.3(POLG):c.54G>C (p.Pro18=)
|
rs1378670216
|
0.00001
|
NM_002693.3(POLG):c.565A>G (p.Ile189Val)
|
rs769547245
|
0.00001
|
NM_002693.3(POLG):c.577C>T (p.Arg193Trp)
|
rs772048616
|
0.00001
|
NM_002693.3(POLG):c.581C>T (p.Ala194Val)
|
rs779122022
|
0.00001
|
NM_002693.3(POLG):c.583C>A (p.Leu195Met)
|
rs997971133
|
0.00001
|
NM_002693.3(POLG):c.584T>C (p.Leu195Pro)
|
rs794727267
|
0.00001
|
NM_002693.3(POLG):c.598G>C (p.Glu200Gln)
|
rs756447384
|
0.00001
|
NM_002693.3(POLG):c.602T>G (p.Val201Gly)
|
rs750928338
|
0.00001
|
NM_002693.3(POLG):c.603C>T (p.Val201=)
|
rs768005050
|
0.00001
|
NM_002693.3(POLG):c.609G>C (p.Leu203Phe)
|
rs796052900
|
0.00001
|
NM_002693.3(POLG):c.64C>T (p.Pro22Ser)
|
rs568058975
|
0.00001
|
NM_002693.3(POLG):c.653C>T (p.Ser218Leu)
|
rs1060500775
|
0.00001
|
NM_002693.3(POLG):c.659+4A>G
|
rs1260147650
|
0.00001
|
NM_002693.3(POLG):c.659+7A>T
|
rs1233914532
|
0.00001
|
NM_002693.3(POLG):c.659G>C (p.Trp220Ser)
|
rs1004988362
|
0.00001
|
NM_002693.3(POLG):c.660-7C>T
|
rs766053530
|
0.00001
|
NM_002693.3(POLG):c.660-9C>T
|
rs776555301
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002693.3(POLG):c.67G>A (p.Gly23Arg)
|
rs1422899388
|
0.00001
|
NM_002693.3(POLG):c.695G>A (p.Arg232His)
|
rs113994093
|
0.00001
|
NM_002693.3(POLG):c.717G>A (p.Leu239=)
|
rs1188801234
|
0.00001
|
NM_002693.3(POLG):c.723G>A (p.Pro241=)
|
rs1057522857
|
0.00001
|
NM_002693.3(POLG):c.726T>A (p.Ala242=)
|
rs2055576134
|
0.00001
|
NM_002693.3(POLG):c.730C>G (p.Leu244Val)
|
rs367959489
|
0.00001
|
NM_002693.3(POLG):c.732C>T (p.Leu244=)
|
rs1446601027
|
0.00001
|
NM_002693.3(POLG):c.741G>T (p.Leu247=)
|
rs2055575944
|
0.00001
|
NM_002693.3(POLG):c.759C>G (p.Ala253=)
|
rs1290260260
|
0.00001
|
NM_002693.3(POLG):c.809A>G (p.Asn270Ser)
|
rs1363908609
|
0.00001
|
NM_002693.3(POLG):c.823C>T (p.Arg275Ter)
|
rs1057517803
|
0.00001
|
NM_002693.3(POLG):c.833T>C (p.Ile278Thr)
|
rs779502496
|
0.00001
|
NM_002693.3(POLG):c.851T>C (p.Ile284Thr)
|
rs2055574542
|
0.00001
|
NM_002693.3(POLG):c.855+19A>G
|
rs888039212
|
0.00001
|
NM_002693.3(POLG):c.855G>C (p.Gln285His)
|
rs141367015
|
0.00001
|
NM_002693.3(POLG):c.856-11C>T
|
rs375058609
|
0.00001
|
NM_002693.3(POLG):c.856-14C>T
|
rs745487374
|
0.00001
|
NM_002693.3(POLG):c.856-3C>T
|
rs576339221
|
0.00001
|
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)
|
rs564582352
|
0.00001
|
NM_002693.3(POLG):c.869G>A (p.Arg290His)
|
rs146603953
|
0.00001
|
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)
|
rs796052895
|
0.00001
|
NM_002693.3(POLG):c.88G>A (p.Val30Ile)
|
rs1321405180
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
NM_002693.3(POLG):c.955A>G (p.Lys319Glu)
|
rs766465907
|
0.00001
|
NM_002693.3(POLG):c.971C>G (p.Pro324Arg)
|
rs764492040
|
0.00001
|
NM_002693.3(POLG):c.978A>C (p.Thr326=)
|
rs1161197876
|
0.00001
|
NM_002693.3(POLG):c.995C>T (p.Ser332Phe)
|
rs1567192290
|
0.00001
|
NC_000015.10:g.(?_89316731)_(89316847_?)del
|
|
|
NC_000015.10:g.89319351del
|
|
|
NC_000015.10:g.89327064del
|
|
|
NC_000015.9:g.(?_89828307)_(89876985_?)del
|
|
|
NC_000015.9:g.(?_89856115)_(89862000_?)del
|
|
|
NC_000015.9:g.(?_89859982)_(89876985_?)dup
|
|
|
NC_000015.9:g.(?_89860587)_(89860787_?)del
|
|
|
NC_000015.9:g.(?_89860587)_(89876985_?)del
|
|
|
NC_000015.9:g.(?_89862142)_(89867152_?)del
|
|
|
NC_000015.9:g.(?_89862161)_(89864158_?)del
|
|
|
NC_000015.9:g.(?_89862162)_(89864159_?)del
|
|
|
NC_000015.9:g.(?_89868661)_(89873527_?)dup
|
|
|
NC_000015.9:g.(?_89873292)_(89873527_?)del
|
|
|
NM_002693.2(POLG):c.-647A>G
|
rs2856268
|
|
NM_002693.2(POLG):c.125_139dup
|
rs780010436
|
|
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)
|
|
|
NM_002693.3(POLG):c.1002G>A (p.Arg334=)
|
rs1057520944
|
|
NM_002693.3(POLG):c.1007C>T (p.Ala336Val)
|
|
|
NM_002693.3(POLG):c.1008C>T (p.Ala336=)
|
rs2055559518
|
|
NM_002693.3(POLG):c.1017C>T (p.Gly339=)
|
|
|
NM_002693.3(POLG):c.1022_1023delinsAT (p.Ala341Asp)
|
rs2055559226
|
|
NM_002693.3(POLG):c.1023+10C>T
|
rs777477062
|
|
NM_002693.3(POLG):c.1023+11A>C
|
|
|
NM_002693.3(POLG):c.1023+13T>G
|
rs201874835
|
|
NM_002693.3(POLG):c.1023+14G>C
|
|
|
NM_002693.3(POLG):c.1023+15C>T
|
|
|
NM_002693.3(POLG):c.1023+16C>A
|
|
|
NM_002693.3(POLG):c.1023+17G>C
|
rs778750911
|
|
NM_002693.3(POLG):c.1023+18G>A
|
|
|
NM_002693.3(POLG):c.1023+1G>A
|
|
|
NM_002693.3(POLG):c.1023+7G>A
|
|
|
NM_002693.3(POLG):c.1023+7G>T
|
rs2055559130
|
|
NM_002693.3(POLG):c.1023+8C>T
|
rs2055559095
|
|
NM_002693.3(POLG):c.1024-12C>G
|
|
|
NM_002693.3(POLG):c.1024-14C>T
|
rs1484888048
|
|
NM_002693.3(POLG):c.1024-19C>T
|
|
|
NM_002693.3(POLG):c.1024-20C>G
|
|
|
NM_002693.3(POLG):c.1024-3C>T
|
rs2152068001
|
|
NM_002693.3(POLG):c.1024-4C>G
|
rs2152068002
|
|
NM_002693.3(POLG):c.1024-6C>T
|
|
|
NM_002693.3(POLG):c.1024-9G>T
|
rs2152068008
|
|
NM_002693.3(POLG):c.1026C>A (p.Ile342=)
|
|
|
NM_002693.3(POLG):c.1032C>A (p.Ser344=)
|
|
|
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter)
|
rs2152067996
|
|
NM_002693.3(POLG):c.1036G>T (p.Asp346Tyr)
|
rs2152067994
|
|
NM_002693.3(POLG):c.1042C>T (p.Leu348=)
|
|
|
NM_002693.3(POLG):c.1047C>T (p.Asp349=)
|
|
|
NM_002693.3(POLG):c.104C>T (p.Pro35Leu)
|
rs769214289
|
|
NM_002693.3(POLG):c.1053C>T (p.Ser351=)
|
rs2152067986
|
|
NM_002693.3(POLG):c.1055G>T (p.Ser352Ile)
|
|
|
NM_002693.3(POLG):c.1057G>T (p.Val353Phe)
|
|
|
NM_002693.3(POLG):c.1060A>G (p.Asn354Asp)
|
rs796052916
|
|
NM_002693.3(POLG):c.1066C>G (p.Leu356Val)
|
rs371431444
|
|
NM_002693.3(POLG):c.1068G>A (p.Leu356=)
|
|
|
NM_002693.3(POLG):c.1076T>C (p.Val359Ala)
|
|
|
NM_002693.3(POLG):c.107G>C (p.Ser36Thr)
|
|
|
NM_002693.3(POLG):c.1080C>T (p.His360=)
|
rs2055556429
|
|
NM_002693.3(POLG):c.1082G>C (p.Arg361Thr)
|
|
|
NM_002693.3(POLG):c.1083A>C (p.Arg361Ser)
|
|
|
NM_002693.3(POLG):c.1091T>C (p.Val364Ala)
|
|
|
NM_002693.3(POLG):c.1094G>A (p.Gly365Glu)
|
|
|
NM_002693.3(POLG):c.1094G>C (p.Gly365Ala)
|
rs781181789
|
|
NM_002693.3(POLG):c.1095G>A (p.Gly365=)
|
|
|
NM_002693.3(POLG):c.1096G>A (p.Gly366Arg)
|
rs1340995594
|
|
NM_002693.3(POLG):c.1097G>A (p.Gly366Glu)
|
|
|
NM_002693.3(POLG):c.1098G>C (p.Gly366=)
|
rs1195508608
|
|
NM_002693.3(POLG):c.1100C>A (p.Pro367His)
|
|
|
NM_002693.3(POLG):c.1103C>T (p.Pro368Leu)
|
rs777985236
|
|
NM_002693.3(POLG):c.1107A>G (p.Leu369=)
|
|
|
NM_002693.3(POLG):c.1109A>G (p.Glu370Gly)
|
|
|
NM_002693.3(POLG):c.110_119dup (p.Arg42fs)
|
|
|
NM_002693.3(POLG):c.1116G>C (p.Glu372Asp)
|
|
|
NM_002693.3(POLG):c.1118C>G (p.Pro373Arg)
|
|
|
NM_002693.3(POLG):c.111C>T (p.Asp37=)
|
|
|
NM_002693.3(POLG):c.1121G>A (p.Arg374Gln)
|
rs1202773554
|
|
NM_002693.3(POLG):c.1128_1129del (p.Phe377fs)
|
|
|
NM_002693.3(POLG):c.112G>A (p.Gly38Arg)
|
rs866945104
|
|
NM_002693.3(POLG):c.112G>C (p.Gly38Arg)
|
rs866945104
|
|
NM_002693.3(POLG):c.1134G>T (p.Val378=)
|
|
|
NM_002693.3(POLG):c.1139G>T (p.Gly380Val)
|
|
|
NM_002693.3(POLG):c.113G>A (p.Gly38Glu)
|
rs1403540142
|
|
NM_002693.3(POLG):c.1140C>T (p.Gly380=)
|
|
|
NM_002693.3(POLG):c.1143C>T (p.Thr381=)
|
|
|
NM_002693.3(POLG):c.1144A>G (p.Met382Val)
|
|
|
NM_002693.3(POLG):c.1150G>C (p.Asp384His)
|
rs2055555179
|
|
NM_002693.3(POLG):c.1151A>G (p.Asp384Gly)
|
|
|
NM_002693.3(POLG):c.1153A>G (p.Ile385Val)
|
|
|
NM_002693.3(POLG):c.1155T>C (p.Ile385=)
|
|
|
NM_002693.3(POLG):c.1156C>G (p.Arg386Gly)
|
|
|
NM_002693.3(POLG):c.1167C>A (p.Phe389Leu)
|
|
|
NM_002693.3(POLG):c.116_118del (p.Gln39del)
|
rs763663907
|
|
NM_002693.3(POLG):c.1170+11G>T
|
rs2055554714
|
|
NM_002693.3(POLG):c.1170+12G>A
|
|
|
NM_002693.3(POLG):c.1170+12G>C
|
|
|
NM_002693.3(POLG):c.1170+18dup
|
rs1274781490
|
|
NM_002693.3(POLG):c.1170+19C>T
|
|
|
NM_002693.3(POLG):c.1170+3A>G
|
|
|
NM_002693.3(POLG):c.1170+6G>A
|
rs749250690
|
|
NM_002693.3(POLG):c.1170+6G>T
|
|
|
NM_002693.3(POLG):c.1170+7T>C
|
|
|
NM_002693.3(POLG):c.1171-10C>G
|
rs1228287579
|
|
NM_002693.3(POLG):c.1171-17C>G
|
|
|
NM_002693.3(POLG):c.1171-17C>T
|
rs1331868744
|
|
NM_002693.3(POLG):c.1171-18C>G
|
rs1567192015
|
|
NM_002693.3(POLG):c.1171-19T>C
|
|
|
NM_002693.3(POLG):c.1171-19_1171-16del
|
rs2152067832
|
|
NM_002693.3(POLG):c.1171-7G>A
|
|
|
NM_002693.3(POLG):c.1171-7G>T
|
|
|
NM_002693.3(POLG):c.1185C>G (p.Tyr395Ter)
|
|
|
NM_002693.3(POLG):c.1188T>C (p.Cys396=)
|
|
|
NM_002693.3(POLG):c.1190C>T (p.Ala397Val)
|
|
|
NM_002693.3(POLG):c.1198G>A (p.Val400Met)
|
rs529639381
|
|
NM_002693.3(POLG):c.119G>T (p.Arg40Leu)
|
rs200946722
|
|
NM_002693.3(POLG):c.119GGC[1] (p.Arg41_Arg42del)
|
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.119GGC[5] (p.Arg41_Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.119_130del (p.Arg40_Gln43del)
|
rs1274859892
|
|
NM_002693.3(POLG):c.119_133del (p.Arg40_Gln44del)
|
|
|
NM_002693.3(POLG):c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)
|
|
|
NM_002693.3(POLG):c.120G>C (p.Arg40=)
|
|
|
NM_002693.3(POLG):c.1214A>G (p.Glu405Gly)
|
|
|
NM_002693.3(POLG):c.1216G>A (p.Val406Ile)
|
|
|
NM_002693.3(POLG):c.1220T>C (p.Phe407Ser)
|
rs749715845
|
|
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del)
|
rs765446994
|
|
NM_002693.3(POLG):c.1229A>T (p.Gln410Leu)
|
rs2055552006
|
|
NM_002693.3(POLG):c.1235C>A (p.Pro412Gln)
|
|
|
NM_002693.3(POLG):c.1235C>G (p.Pro412Arg)
|
|
|
NM_002693.3(POLG):c.1236G>T (p.Pro412=)
|
rs750875156
|
|
NM_002693.3(POLG):c.1237_1250dup (p.Arg417fs)
|
rs2152067781
|
|
NM_002693.3(POLG):c.1239C>T (p.Leu413=)
|
|
|
NM_002693.3(POLG):c.1239CTT[1] (p.Phe414del)
|
rs2055551786
|
|
NM_002693.3(POLG):c.123G>T (p.Arg41=)
|
|
|
NM_002693.3(POLG):c.1242C>T (p.Phe414=)
|
|
|
NM_002693.3(POLG):c.1243T>C (p.Leu415=)
|
|
|
NM_002693.3(POLG):c.1247A>G (p.Glu416Gly)
|
|
|
NM_002693.3(POLG):c.1250+13C>T
|
|
|
NM_002693.3(POLG):c.1250+14C>T
|
|
|
NM_002693.3(POLG):c.1250+15A>G
|
|
|
NM_002693.3(POLG):c.1250+16T>C
|
|
|
NM_002693.3(POLG):c.1250+5G>A
|
|
|
NM_002693.3(POLG):c.1250+6_1250+9dup
|
|
|
NM_002693.3(POLG):c.1250+8G>A
|
rs775109520
|
|
NM_002693.3(POLG):c.1250+9G>T
|
rs910982233
|
|
NM_002693.3(POLG):c.1251-20T>C
|
rs769062935
|
|
NM_002693.3(POLG):c.1251-2A>G
|
rs2055536585
|
|
NM_002693.3(POLG):c.1251-4C>A
|
|
|
NM_002693.3(POLG):c.1251-4C>G
|
|
|
NM_002693.3(POLG):c.1251-5C>G
|
rs199621975
|
|
NM_002693.3(POLG):c.1251-5C>T
|
rs199621975
|
|
NM_002693.3(POLG):c.1251-8C>T
|
|
|
NM_002693.3(POLG):c.125_133del (p.Arg42_Gln44del)
|
|
|
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)
|
rs780010436
|
|
NM_002693.3(POLG):c.125_145del (p.Arg42_Gln48del)
|
|
|
NM_002693.3(POLG):c.125_145dup (p.Arg42_Gln48dup)
|
rs758359050
|
|
NM_002693.3(POLG):c.1264G>T (p.Val422Leu)
|
|
|
NM_002693.3(POLG):c.1269T>A (p.Thr423=)
|
rs886044670
|
|
NM_002693.3(POLG):c.126G>A (p.Arg42=)
|
rs1287086085
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[16] (p.Gln51_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[18] (p.Gln49_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[20] (p.Gln47_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[21] (p.Gln46_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.1270C>G (p.Leu424Val)
|
rs2055536253
|
|
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)
|
rs796052908
|
|
NM_002693.3(POLG):c.1274C>A (p.Ala425Asp)
|
|
|
NM_002693.3(POLG):c.1275C>G (p.Ala425=)
|
|
|
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)
|
rs775576189
|
|
NM_002693.3(POLG):c.1276G>C (p.Gly426Arg)
|
rs775576189
|
|
NM_002693.3(POLG):c.1279A>G (p.Met427Val)
|
rs996158882
|
|
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln)
|
rs776122200
|
|
NM_002693.3(POLG):c.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln)
|
|
|
NM_002693.3(POLG):c.1280T>C (p.Met427Thr)
|
rs1596358489
|
|
NM_002693.3(POLG):c.1282C>T (p.Leu428=)
|
|
|
NM_002693.3(POLG):c.1292G>C (p.Gly431Ala)
|
|
|
NM_002693.3(POLG):c.1292G>T (p.Gly431Val)
|
|
|
NM_002693.3(POLG):c.1293T>C (p.Gly431=)
|
rs768831752
|
|
NM_002693.3(POLG):c.1293del (p.Val432fs)
|
|
|
NM_002693.3(POLG):c.1298C>T (p.Ser433Phe)
|
|
|
NM_002693.3(POLG):c.1302C>T (p.Tyr434=)
|
|
|
NM_002693.3(POLG):c.1303C>G (p.Leu435Val)
|
rs2152067129
|
|
NM_002693.3(POLG):c.1307C>T (p.Pro436Leu)
|
|
|
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg)
|
rs1555454345
|
|
NM_002693.3(POLG):c.1311C>G (p.Val437=)
|
|
|
NM_002693.3(POLG):c.1324G>A (p.Glu442Lys)
|
|
|
NM_002693.3(POLG):c.132G>A (p.Gln44=)
|
rs1596362738
|
|
NM_002693.3(POLG):c.132G>T (p.Gln44His)
|
rs1596362738
|
|
NM_002693.3(POLG):c.1333C>G (p.Leu445Val)
|
|
|
NM_002693.3(POLG):c.1333C>T (p.Leu445=)
|
|
|
NM_002693.3(POLG):c.1335G>C (p.Leu445=)
|
|
|
NM_002693.3(POLG):c.1336_1337delinsTT (p.Ala446Leu)
|
rs2152067113
|
|
NM_002693.3(POLG):c.1339G>A (p.Glu447Lys)
|
rs2055535022
|
|
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg)
|
rs1567194472
|
|
NM_002693.3(POLG):c.1341G>A (p.Glu447=)
|
rs2152067108
|
|
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)
|
rs1567191417
|
|
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg)
|
rs1567194455
|
|
NM_002693.3(POLG):c.1352C>T (p.Thr451Ile)
|
|
|
NM_002693.3(POLG):c.1353T>C (p.Thr451=)
|
|
|
NM_002693.3(POLG):c.1355A>G (p.Tyr452Cys)
|
rs2152067095
|
|
NM_002693.3(POLG):c.1356T>A (p.Tyr452Ter)
|
|
|
NM_002693.3(POLG):c.135G>C (p.Gln45His)
|
|
|
NM_002693.3(POLG):c.1362G>A (p.Glu454=)
|
|
|
NM_002693.3(POLG):c.1364T>C (p.Leu455Pro)
|
|
|
NM_002693.3(POLG):c.1365C>G (p.Leu455=)
|
rs754641736
|
|
NM_002693.3(POLG):c.1365C>T (p.Leu455=)
|
|
|
NM_002693.3(POLG):c.1369C>A (p.Arg457=)
|
|
|
NM_002693.3(POLG):c.136C>T (p.Gln46Ter)
|
|
|
NM_002693.3(POLG):c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln)
|
rs2055628450
|
|
NM_002693.3(POLG):c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln)
|
rs2055628450
|
|
NM_002693.3(POLG):c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln)
|
rs2141816159
|
|
NM_002693.3(POLG):c.1371G>A (p.Arg457=)
|
|
|
NM_002693.3(POLG):c.1371G>C (p.Arg457=)
|
rs1567191387
|
|
NM_002693.3(POLG):c.1377G>A (p.Met459Ile)
|
|
|
NM_002693.3(POLG):c.1378AAG[1] (p.Lys461del)
|
|
|
NM_002693.3(POLG):c.1379_1390del (p.Lys460_Leu463del)
|
|
|
NM_002693.3(POLG):c.137A>G (p.Gln46Arg)
|
rs1555454339
|
|
NM_002693.3(POLG):c.1381_1382delinsTC (p.Lys461Ser)
|
rs796052920
|
|
NM_002693.3(POLG):c.1385C>T (p.Ser462Leu)
|
rs762878459
|
|
NM_002693.3(POLG):c.1386G>C (p.Ser462=)
|
|
|
NM_002693.3(POLG):c.1389G>C (p.Leu463Phe)
|
rs150828914
|
|
NM_002693.3(POLG):c.1390dup (p.Met464fs)
|
|
|
NM_002693.3(POLG):c.1393G>T (p.Asp465Tyr)
|
rs2152067076
|
|
NM_002693.3(POLG):c.139C>G (p.Gln47Glu)
|
|
|
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)
|
|
|
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup)
|
rs1397675423
|
|
NM_002693.3(POLG):c.1412G>C (p.Cys471Ser)
|
|
|
NM_002693.3(POLG):c.1413C>T (p.Cys471=)
|
rs2152067068
|
|
NM_002693.3(POLG):c.1417C>T (p.Leu473=)
|
|
|
NM_002693.3(POLG):c.1422C>T (p.Leu474=)
|
|
|
NM_002693.3(POLG):c.1425A>G (p.Ser475=)
|
rs2152067059
|
|
NM_002693.3(POLG):c.1428A>G (p.Gly476=)
|
|
|
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys)
|
rs1225242680
|
|
NM_002693.3(POLG):c.142C>G (p.Gln48Glu)
|
|
|
NM_002693.3(POLG):c.1431G>A (p.Glu477=)
|
rs1047926345
|
|
NM_002693.3(POLG):c.1431G>C (p.Glu477Asp)
|
rs1047926345
|
|
NM_002693.3(POLG):c.1432_1433del (p.Arg478fs)
|
|
|
NM_002693.3(POLG):c.1433+10C>G
|
|
|
NM_002693.3(POLG):c.1433+10C>T
|
|
|
NM_002693.3(POLG):c.1433+11C>G
|
|
|
NM_002693.3(POLG):c.1433+15G>A
|
|
|
NM_002693.3(POLG):c.1433+17T>C
|
rs2152067044
|
|
NM_002693.3(POLG):c.1433+18G>A
|
|
|
NM_002693.3(POLG):c.1433+1G>C
|
|
|
NM_002693.3(POLG):c.1433+5C>T
|
rs924516946
|
|
NM_002693.3(POLG):c.1433+6C>T
|
|
|
NM_002693.3(POLG):c.1433+8G>A
|
|
|
NM_002693.3(POLG):c.1434-15G>A
|
|
|
NM_002693.3(POLG):c.1434-20C>G
|
|
|
NM_002693.3(POLG):c.1434-20C>T
|
|
|
NM_002693.3(POLG):c.1434-4G>A
|
|
|
NM_002693.3(POLG):c.1434-7T>C
|
|
|
NM_002693.3(POLG):c.1434-7del
|
rs1422281434
|
|
NM_002693.3(POLG):c.1434-9G>A
|
|
|
NM_002693.3(POLG):c.1438A>G (p.Lys480Glu)
|
|
|
NM_002693.3(POLG):c.1439A>G (p.Lys480Arg)
|
rs760878504
|
|
NM_002693.3(POLG):c.143A>G (p.Gln48Arg)
|
rs2141816053
|
|
NM_002693.3(POLG):c.143_144insCCAGCA (p.Gln47_Gln48insHisGln)
|
rs2055627759
|
|
NM_002693.3(POLG):c.143_166del (p.Gln48_Gln55del)
|
|
|
NM_002693.3(POLG):c.143_166dup (p.Gln48_Gln55dup)
|
rs1555454325
|
|
NM_002693.3(POLG):c.1440AGA[1] (p.Glu481del)
|
rs2152066975
|
|
NM_002693.3(POLG):c.1446C>T (p.Asp482=)
|
rs202053662
|
|
NM_002693.3(POLG):c.1449C>G (p.Pro483=)
|
|
|
NM_002693.3(POLG):c.1451G>A (p.Trp484Ter)
|
|
|
NM_002693.3(POLG):c.1452_1453delinsTT (p.Trp484_Leu485delinsCysPhe)
|
|
|
NM_002693.3(POLG):c.1455C>G (p.Leu485=)
|
|
|
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)
|
rs2055531147
|
|
NM_002693.3(POLG):c.1459G>A (p.Asp487Asn)
|
|
|
NM_002693.3(POLG):c.145C>T (p.Gln49Ter)
|
|
|
NM_002693.3(POLG):c.1461C>T (p.Asp487=)
|
|
|
NM_002693.3(POLG):c.1462C>T (p.Leu488=)
|
|
|
NM_002693.3(POLG):c.1464G>A (p.Leu488=)
|
rs768288418
|
|
NM_002693.3(POLG):c.1464G>C (p.Leu488=)
|
|
|
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_002693.3(POLG):c.1473C>T (p.Asp491=)
|
rs1596358215
|
|
NM_002693.3(POLG):c.1474C>T (p.Leu492=)
|
rs2152066960
|
|
NM_002693.3(POLG):c.1486A>G (p.Lys496Glu)
|
|
|
NM_002693.3(POLG):c.1488G>A (p.Lys496=)
|
|
|
NM_002693.3(POLG):c.1491G>A (p.Gln497=)
|
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
NM_002693.3(POLG):c.1493A>G (p.Lys498Arg)
|
rs769637557
|
|
NM_002693.3(POLG):c.1494G>A (p.Lys498=)
|
rs2152066951
|
|
NM_002693.3(POLG):c.1497A>G (p.Lys499=)
|
|
|
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup)
|
rs773536141
|
|
NM_002693.3(POLG):c.1500T>C (p.Ala500=)
|
|
|
NM_002693.3(POLG):c.1501A>G (p.Lys501Glu)
|
|
|
NM_002693.3(POLG):c.1501AAG[1] (p.Lys502del)
|
|
|
NM_002693.3(POLG):c.1506G>A (p.Lys502=)
|
|
|
NM_002693.3(POLG):c.1509G>C (p.Val503=)
|
rs1018980768
|
|
NM_002693.3(POLG):c.1515G>A (p.Lys505=)
|
rs796052880
|
|
NM_002693.3(POLG):c.1518A>C (p.Glu506Asp)
|
|
|
NM_002693.3(POLG):c.151C>G (p.Gln51Glu)
|
|
|
NM_002693.3(POLG):c.1521A>G (p.Pro507=)
|
|
|
NM_002693.3(POLG):c.1526C>T (p.Thr509Ile)
|
|
|
NM_002693.3(POLG):c.1527A>G (p.Thr509=)
|
|
|
NM_002693.3(POLG):c.1528G>A (p.Ala510Thr)
|
|
|
NM_002693.3(POLG):c.152A>G (p.Gln51Arg)
|
rs1478709276
|
|
NM_002693.3(POLG):c.152_153insACA (p.Gln55dup)
|
rs1466061893
|
|
NM_002693.3(POLG):c.152_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGln)
|
|
|
NM_002693.3(POLG):c.1532G>C (p.Ser511Thr)
|
|
|
NM_002693.3(POLG):c.1533C>T (p.Ser511=)
|
|
|
NM_002693.3(POLG):c.153G>A (p.Gln51=)
|
rs1453538834
|
|
NM_002693.3(POLG):c.1542C>T (p.Pro514=)
|
rs1342656519
|
|
NM_002693.3(POLG):c.1543A>C (p.Ile515Leu)
|
rs748919988
|
|
NM_002693.3(POLG):c.1547_1549del (p.Glu516del)
|
rs781424514
|
|
NM_002693.3(POLG):c.1549G>T (p.Gly517Trp)
|
rs1015831792
|
|
NM_002693.3(POLG):c.1550G>A (p.Gly517Glu)
|
|
|
NM_002693.3(POLG):c.1552G>A (p.Ala518Thr)
|
rs1596358124
|
|
NM_002693.3(POLG):c.1558G>A (p.Ala520Thr)
|
rs764756949
|
|
NM_002693.3(POLG):c.1559C>T (p.Ala520Val)
|
|
|
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis)
|
rs573261648
|
|
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del)
|
rs761909257
|
|
NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)
|
|
|
NM_002693.3(POLG):c.1560C>T (p.Ala520=)
|
rs1324794442
|
|
NM_002693.3(POLG):c.1562C>T (p.Pro521Leu)
|
|
|
NM_002693.3(POLG):c.156G>A (p.Gln52=)
|
rs587781117
|
|
NM_002693.3(POLG):c.156G>C (p.Gln52His)
|
rs587781117
|
|
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)
|
rs577476988
|
|
NM_002693.3(POLG):c.1572C>T (p.Pro524=)
|
|
|
NM_002693.3(POLG):c.1575_1578del (p.Met525fs)
|
rs1253517114
|
|
NM_002693.3(POLG):c.1579C>G (p.Gln527Glu)
|
|
|
NM_002693.3(POLG):c.157C>T (p.Gln53Ter)
|
|
|
NM_002693.3(POLG):c.1581G>A (p.Gln527=)
|
rs2055528821
|
|
NM_002693.3(POLG):c.1585+10A>G
|
|
|
NM_002693.3(POLG):c.1585+14G>A
|
|
|
NM_002693.3(POLG):c.1585+15T>C
|
|
|
NM_002693.3(POLG):c.1585+15T>G
|
rs534475232
|
|
NM_002693.3(POLG):c.1585+5G>A
|
|
|
NM_002693.3(POLG):c.1585+6G>A
|
|
|
NM_002693.3(POLG):c.1585+7A>G
|
|
|
NM_002693.3(POLG):c.1585+8G>A
|
rs2152066868
|
|
NM_002693.3(POLG):c.1586-10A>C
|
|
|
NM_002693.3(POLG):c.1586-11C>A
|
rs776821667
|
|
NM_002693.3(POLG):c.1586-11C>T
|
|
|
NM_002693.3(POLG):c.1586-14C>T
|
|
|
NM_002693.3(POLG):c.1586-16T>C
|
|
|
NM_002693.3(POLG):c.1586-18C>T
|
|
|
NM_002693.3(POLG):c.1586-5C>G
|
|
|
NM_002693.3(POLG):c.1586-6T>A
|
|
|
NM_002693.3(POLG):c.1586-8C>A
|
|
|
NM_002693.3(POLG):c.1586-9C>T
|
|
|
NM_002693.3(POLG):c.1588C>T (p.Leu530Phe)
|
rs1024469208
|
|
NM_002693.3(POLG):c.158A>C (p.Gln53Pro)
|
rs527965158
|
|
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup)
|
rs1555454333
|
|
NM_002693.3(POLG):c.158_159insGCAACAGCA (p.Gln53_Gln55dup)
|
rs1555454334
|
|
NM_002693.3(POLG):c.158_159insGCAGCAACA (p.Gln53_Gln55dup)
|
rs1555454333
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.158_166dup (p.Gln53_Gln55dup)
|
rs769735492
|
|
NM_002693.3(POLG):c.1590del (p.Gly531fs)
|
|
|
NM_002693.3(POLG):c.1591G>T (p.Gly531Cys)
|
rs796052904
|
|
NM_002693.3(POLG):c.159A>G (p.Gln53=)
|
rs587781118
|
|
NM_002693.3(POLG):c.159_161dup (p.Gln55dup)
|
rs768088414
|
|
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)
|
rs760135553
|
|
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln)
|
rs1596362608
|
|
NM_002693.3(POLG):c.15C>G (p.Leu5=)
|
rs892999189
|
|
NM_002693.3(POLG):c.1603G>A (p.Glu535Lys)
|
rs2055524067
|
|
NM_002693.3(POLG):c.1603GAG[3] (p.Glu538del)
|
rs1304341853
|
|
NM_002693.3(POLG):c.1607A>G (p.Glu536Gly)
|
rs1596357858
|
|
NM_002693.3(POLG):c.1612G>A (p.Glu538Lys)
|
|
|
NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu)
|
rs796052921
|
|
NM_002693.3(POLG):c.1617T>C (p.Phe539=)
|
|
|
NM_002693.3(POLG):c.1618C>G (p.Gln540Glu)
|
|
|
NM_002693.3(POLG):c.161AGC[1] (p.Gln55del)
|
|
|
NM_002693.3(POLG):c.161AGC[3] (p.Gln55_Pro56insGln)
|
|
|
NM_002693.3(POLG):c.161AGC[4] (p.Gln55_Pro56insGlnGln)
|
|
|
NM_002693.3(POLG):c.1629C>A (p.Val543=)
|
|
|
NM_002693.3(POLG):c.1629C>T (p.Val543=)
|
rs56349446
|
|
NM_002693.3(POLG):c.1633G>T (p.Ala545Ser)
|
|
|
NM_002693.3(POLG):c.1635C>T (p.Ala545=)
|
|
|
NM_002693.3(POLG):c.1636C>G (p.Arg546Gly)
|
rs2307447
|
|
NM_002693.3(POLG):c.1638C>A (p.Arg546=)
|
|
|
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser)
|
rs779353857
|
|
NM_002693.3(POLG):c.1643G>A (p.Cys548Tyr)
|
rs2152066680
|
|
NM_002693.3(POLG):c.1644C>T (p.Cys548=)
|
|
|
NM_002693.3(POLG):c.1647G>A (p.Leu549=)
|
|
|
NM_002693.3(POLG):c.164_165insACAGCAGCA (p.Gln55_Pro56insGlnGlnGln)
|
|
|
NM_002693.3(POLG):c.1652A>G (p.Lys551Arg)
|
rs1596357794
|
|
NM_002693.3(POLG):c.1658A>G (p.Lys553Arg)
|
|
|
NM_002693.3(POLG):c.1662G>T (p.Gly554=)
|
|
|
NM_002693.3(POLG):c.1664C>T (p.Thr555Ile)
|
rs749805848
|
|
NM_002693.3(POLG):c.1665C>G (p.Thr555=)
|
rs1378085314
|
|
NM_002693.3(POLG):c.1665C>T (p.Thr555=)
|
|
|
NM_002693.3(POLG):c.1668A>C (p.Thr556=)
|
|
|
NM_002693.3(POLG):c.1668A>G (p.Thr556=)
|
|
|
NM_002693.3(POLG):c.1670A>G (p.Glu557Gly)
|
|
|
NM_002693.3(POLG):c.1674C>G (p.Leu558=)
|
rs552085869
|
|
NM_002693.3(POLG):c.1674C>T (p.Leu558=)
|
rs552085869
|
|
NM_002693.3(POLG):c.1677G>A (p.Leu559=)
|
|
|
NM_002693.3(POLG):c.1679C>T (p.Pro560Leu)
|
rs2055522032
|
|
NM_002693.3(POLG):c.167C>G (p.Pro56Arg)
|
rs1022612492
|
|
NM_002693.3(POLG):c.167C>T (p.Pro56Leu)
|
|
|
NM_002693.3(POLG):c.1680C>A (p.Pro560=)
|
|
|
NM_002693.3(POLG):c.1680C>T (p.Pro560=)
|
|
|
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg)
|
rs1350960257
|
|
NM_002693.3(POLG):c.1685G>T (p.Arg562Leu)
|
|
|
NM_002693.3(POLG):c.1686G>A (p.Arg562=)
|
|
|
NM_002693.3(POLG):c.1687C>T (p.Pro563Ser)
|
|
|
NM_002693.3(POLG):c.1688C>T (p.Pro563Leu)
|
|
|
NM_002693.3(POLG):c.168T>G (p.Pro56=)
|
|
|
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3])
|
rs771937417
|
|
NM_002693.3(POLG):c.1696C>A (p.Leu566Ile)
|
rs559937676
|
|
NM_002693.3(POLG):c.1700del (p.Pro567fs)
|
|
|
NM_002693.3(POLG):c.1704_1712+1del
|
|
|
NM_002693.3(POLG):c.1709C>G (p.Pro570Arg)
|
rs780695124
|
|
NM_002693.3(POLG):c.1712+16C>T
|
|
|
NM_002693.3(POLG):c.1712+18C>G
|
|
|
NM_002693.3(POLG):c.1712+19C>G
|
|
|
NM_002693.3(POLG):c.1712+4A>C
|
rs1555453528
|
|
NM_002693.3(POLG):c.1712+6C>T
|
|
|
NM_002693.3(POLG):c.1712G>C (p.Gly571Ala)
|
|
|
NM_002693.3(POLG):c.1713-11C>T
|
rs1376554827
|
|
NM_002693.3(POLG):c.1713-12G>A
|
rs1057521595
|
|
NM_002693.3(POLG):c.1713-16T>G
|
|
|
NM_002693.3(POLG):c.1713-18C>T
|
rs1298520719
|
|
NM_002693.3(POLG):c.1713-20G>C
|
rs2055507868
|
|
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter)
|
rs767709505
|
|
NM_002693.3(POLG):c.1716G>T (p.Trp572Cys)
|
|
|
NM_002693.3(POLG):c.1723A>C (p.Lys575Gln)
|
rs1379482879
|
|
NM_002693.3(POLG):c.1728C>G (p.Leu576=)
|
rs763204640
|
|
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)
|
rs2055625602
|
|
NM_002693.3(POLG):c.1732C>A (p.Pro578Thr)
|
rs775769107
|
|
NM_002693.3(POLG):c.1737G>A (p.Arg579=)
|
|
|
NM_002693.3(POLG):c.1738C>G (p.Leu580Val)
|
rs2152065984
|
|
NM_002693.3(POLG):c.1742A>G (p.Asp581Gly)
|
|
|
NM_002693.3(POLG):c.1746C>A (p.Asp582Glu)
|
|
|
NM_002693.3(POLG):c.1747C>T (p.Pro583Ser)
|
|
|
NM_002693.3(POLG):c.1750G>T (p.Ala584Ser)
|
|
|
NM_002693.3(POLG):c.1752A>G (p.Ala584=)
|
rs150929445
|
|
NM_002693.3(POLG):c.1753T>A (p.Trp585Arg)
|
rs2152065960
|
|
NM_002693.3(POLG):c.1756A>G (p.Thr586Ala)
|
rs1596357095
|
|
NM_002693.3(POLG):c.1757C>T (p.Thr586Ile)
|
|
|
NM_002693.3(POLG):c.1758C>G (p.Thr586=)
|
|
|
NM_002693.3(POLG):c.1758C>T (p.Thr586=)
|
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.176C>T (p.Pro59Leu)
|
rs1057518590
|
|
NM_002693.3(POLG):c.1772T>G (p.Leu591Arg)
|
rs756072588
|
|
NM_002693.3(POLG):c.1774C>T (p.Leu592Phe)
|
|
|
NM_002693.3(POLG):c.1779C>T (p.Ser593=)
|
rs1199472537
|
|
NM_002693.3(POLG):c.177G>C (p.Pro59=)
|
rs372383277
|
|
NM_002693.3(POLG):c.1780C>G (p.Leu594Val)
|
|
|
NM_002693.3(POLG):c.1781T>C (p.Leu594Pro)
|
rs2055505934
|
|
NM_002693.3(POLG):c.1783C>T (p.Gln595Ter)
|
rs2152065937
|
|
NM_002693.3(POLG):c.1783_1786dup (p.Met596fs)
|
rs2152065935
|
|
NM_002693.3(POLG):c.1785G>A (p.Gln595=)
|
|
|
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly)
|
rs139717885
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.1789_1791del (p.Arg597del)
|
|
|
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
|
|
|
NM_002693.3(POLG):c.1794C>G (p.Val598=)
|
|
|
NM_002693.3(POLG):c.1796C>T (p.Thr599Ile)
|
|
|
NM_002693.3(POLG):c.1797A>C (p.Thr599=)
|
|
|
NM_002693.3(POLG):c.1797A>T (p.Thr599=)
|
rs775651351
|
|
NM_002693.3(POLG):c.1798C>A (p.Pro600Thr)
|
|
|
NM_002693.3(POLG):c.1798C>T (p.Pro600Ser)
|
rs759840237
|
|
NM_002693.3(POLG):c.179A>C (p.Gln60Pro)
|
|
|
NM_002693.3(POLG):c.1806C>T (p.Leu602=)
|
|
|
NM_002693.3(POLG):c.180A>G (p.Gln60=)
|
rs1555454318
|
|
NM_002693.3(POLG):c.1810G>A (p.Ala604Thr)
|
|
|
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)
|
rs1433922299
|
|
NM_002693.3(POLG):c.1813C>G (p.Leu605Val)
|
|
|
NM_002693.3(POLG):c.1814_1815delinsGC (p.Leu605Arg)
|
rs2152065907
|
|
NM_002693.3(POLG):c.1818C>T (p.Thr606=)
|
|
|
NM_002693.3(POLG):c.1818del (p.Trp607fs)
|
rs2055505065
|
|
NM_002693.3(POLG):c.1831C>T (p.Pro611Ser)
|
|
|
NM_002693.3(POLG):c.1836G>A (p.Leu612=)
|
|
|
NM_002693.3(POLG):c.1837C>G (p.His613Asp)
|
|
|
NM_002693.3(POLG):c.1838A>G (p.His613Arg)
|
|
|
NM_002693.3(POLG):c.183G>T (p.Val61=)
|
|
|
NM_002693.3(POLG):c.1840T>C (p.Tyr614His)
|
|
|
NM_002693.3(POLG):c.1844C>T (p.Ser615Leu)
|
|
|
NM_002693.3(POLG):c.1846del (p.Glu616fs)
|
rs2152065886
|
|
NM_002693.3(POLG):c.1850G>C (p.Arg617Pro)
|
|
|
NM_002693.3(POLG):c.1851T>C (p.Arg617=)
|
rs2152065878
|
|
NM_002693.3(POLG):c.1854T>C (p.His618=)
|
|
|
NM_002693.3(POLG):c.1857C>T (p.Gly619=)
|
|
|
NM_002693.3(POLG):c.1860G>A (p.Trp620Ter)
|
|
|
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)
|
rs1567190247
|
|
NM_002693.3(POLG):c.1865A>C (p.Tyr622Ser)
|
rs892010680
|
|
NM_002693.3(POLG):c.1869G>A (p.Leu623=)
|
rs752933920
|
|
NM_002693.3(POLG):c.1872G>A (p.Val624=)
|
rs765506021
|
|
NM_002693.3(POLG):c.1872G>T (p.Val624=)
|
|
|
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)
|
|
|
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu)
|
rs1064794214
|
|
NM_002693.3(POLG):c.187T>C (p.Ser63Pro)
|
rs781006710
|
|
NM_002693.3(POLG):c.1884G>T (p.Arg628=)
|
|
|
NM_002693.3(POLG):c.1885G>C (p.Asp629His)
|
rs1555453424
|
|
NM_002693.3(POLG):c.1886A>C (p.Asp629Ala)
|
rs1039182766
|
|
NM_002693.3(POLG):c.1887C>G (p.Asp629Glu)
|
rs886051524
|
|
NM_002693.3(POLG):c.1887del (p.Asp629fs)
|
rs2055503614
|
|
NM_002693.3(POLG):c.1893G>A (p.Leu631=)
|
|
|
NM_002693.3(POLG):c.1896C>G (p.Ala632=)
|
|
|
NM_002693.3(POLG):c.1899G>C (p.Lys633Asn)
|
|
|
NM_002693.3(POLG):c.189C>T (p.Ser63=)
|
|
|
NM_002693.3(POLG):c.189_191del (p.Ser64del)
|
rs2141815620
|
|
NM_002693.3(POLG):c.1900C>T (p.Leu634=)
|
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1908A>G (p.Thr636=)
|
rs1596356880
|
|
NM_002693.3(POLG):c.1909G>C (p.Gly637Arg)
|
|
|
NM_002693.3(POLG):c.1909G>T (p.Gly637Cys)
|
rs2152065820
|
|
NM_002693.3(POLG):c.1912A>G (p.Thr638Ala)
|
rs1567190199
|
|
NM_002693.3(POLG):c.1912dup (p.Thr638fs)
|
|
|
NM_002693.3(POLG):c.1915A>G (p.Thr639Ala)
|
|
|
NM_002693.3(POLG):c.1918C>T (p.Leu640=)
|
rs2152065811
|
|
NM_002693.3(POLG):c.191C>T (p.Ser64Leu)
|
|
|
NM_002693.3(POLG):c.192G>A (p.Ser64=)
|
|
|
NM_002693.3(POLG):c.192G>T (p.Ser64=)
|
|
|
NM_002693.3(POLG):c.1930G>A (p.Gly644Arg)
|
rs1156534099
|
|
NM_002693.3(POLG):c.1930G>C (p.Gly644Arg)
|
|
|
NM_002693.3(POLG):c.1933G>T (p.Val645Leu)
|
|
|
NM_002693.3(POLG):c.1935G>A (p.Val645=)
|
|
|
NM_002693.3(POLG):c.1935G>T (p.Val645=)
|
|
|
NM_002693.3(POLG):c.1937T>G (p.Val646Gly)
|
|
|
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)
|
|
|
NM_002693.3(POLG):c.1942_1943delinsAG (p.Pro648Ser)
|
|
|
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter)
|
rs1465650547
|
|
NM_002693.3(POLG):c.1947C>T (p.Tyr649=)
|
rs1465650547
|
|
NM_002693.3(POLG):c.1949+12G>A
|
|
|
NM_002693.3(POLG):c.1949+12G>C
|
rs2055501824
|
|
NM_002693.3(POLG):c.1949+13C>G
|
|
|
NM_002693.3(POLG):c.1949+16A>G
|
rs766654932
|
|
NM_002693.3(POLG):c.1949+17G>A
|
|
|
NM_002693.3(POLG):c.1949+19G>A
|
rs1279489966
|
|
NM_002693.3(POLG):c.1949+20G>T
|
|
|
NM_002693.3(POLG):c.1950-10C>A
|
rs749522324
|
|
NM_002693.3(POLG):c.1950-10C>G
|
|
|
NM_002693.3(POLG):c.1950-10C>T
|
rs749522324
|
|
NM_002693.3(POLG):c.1950-13G>A
|
|
|
NM_002693.3(POLG):c.1950-13G>C
|
rs577747971
|
|
NM_002693.3(POLG):c.1950-16A>C
|
rs1310096810
|
|
NM_002693.3(POLG):c.1950-16A>G
|
|
|
NM_002693.3(POLG):c.1950-16A>T
|
|
|
NM_002693.3(POLG):c.1950-17T>C
|
|
|
NM_002693.3(POLG):c.1950-1G>A
|
|
|
NM_002693.3(POLG):c.1950-20T>C
|
|
|
NM_002693.3(POLG):c.1950-28GCT[3]
|
|
|
NM_002693.3(POLG):c.1950-28GCT[5]
|
|
|
NM_002693.3(POLG):c.1950-2A>G
|
rs2152063472
|
|
NM_002693.3(POLG):c.1950-3C>T
|
rs750837914
|
|
NM_002693.3(POLG):c.1950-6G>A
|
|
|
NM_002693.3(POLG):c.1950A>G (p.Arg650=)
|
|
|
NM_002693.3(POLG):c.1954A>G (p.Ile652Val)
|
rs767751301
|
|
NM_002693.3(POLG):c.1958A>T (p.Glu653Val)
|
rs752073900
|
|
NM_002693.3(POLG):c.1962C>T (p.Ser654=)
|
rs1555453192
|
|
NM_002693.3(POLG):c.1963C>T (p.Leu655=)
|
|
|
NM_002693.3(POLG):c.1966T>A (p.Tyr656Asn)
|
rs2152063453
|
|
NM_002693.3(POLG):c.1968C>T (p.Tyr656=)
|
rs765009891
|
|
NM_002693.3(POLG):c.1976A>G (p.His659Arg)
|
|
|
NM_002693.3(POLG):c.1978T>G (p.Cys660Gly)
|
|
|
NM_002693.3(POLG):c.1980T>G (p.Cys660Trp)
|
|
|
NM_002693.3(POLG):c.1981C>G (p.Leu661Val)
|
rs2152063439
|
|
NM_002693.3(POLG):c.1988_1989del (p.Gln663fs)
|
rs1483201828
|
|
NM_002693.3(POLG):c.1991G>A (p.Gly664Glu)
|
rs773073959
|
|
NM_002693.3(POLG):c.1994_1998del (p.Lys665fs)
|
|
|
NM_002693.3(POLG):c.1995G>A (p.Lys665=)
|
rs1411128697
|
|
NM_002693.3(POLG):c.1997A>T (p.Gln666Leu)
|
rs62640029
|
|
NM_002693.3(POLG):c.199G>C (p.Gly67Arg)
|
|
|
NM_002693.3(POLG):c.19A>T (p.Arg7Trp)
|
|
|
NM_002693.3(POLG):c.2001G>A (p.Gln667=)
|
|
|
NM_002693.3(POLG):c.2004del (p.Met669fs)
|
rs2152063421
|
|
NM_002693.3(POLG):c.2008C>G (p.Pro670Ala)
|
|
|
NM_002693.3(POLG):c.2014G>A (p.Glu672Lys)
|
rs779964885
|
|
NM_002693.3(POLG):c.2022C>T (p.Gly674=)
|
rs778484334
|
|
NM_002693.3(POLG):c.2025G>A (p.Leu675=)
|
|
|
NM_002693.3(POLG):c.2025G>C (p.Leu675=)
|
|
|
NM_002693.3(POLG):c.2028G>C (p.Ala676=)
|
|
|
NM_002693.3(POLG):c.2029G>C (p.Glu677Gln)
|
|
|
NM_002693.3(POLG):c.202C>T (p.Gln68Ter)
|
rs202039305
|
|
NM_002693.3(POLG):c.2034G>A (p.Glu678=)
|
|
|
NM_002693.3(POLG):c.2034G>T (p.Glu678Asp)
|
|
|
NM_002693.3(POLG):c.2037C>T (p.Phe679=)
|
|
|
NM_002693.3(POLG):c.203A>T (p.Gln68Leu)
|
rs1171419088
|
|
NM_002693.3(POLG):c.2040G>C (p.Leu680=)
|
|
|
NM_002693.3(POLG):c.2047G>A (p.Asp683Asn)
|
|
|
NM_002693.3(POLG):c.2047G>C (p.Asp683His)
|
rs2055438033
|
|
NM_002693.3(POLG):c.2048A>T (p.Asp683Val)
|
|
|
NM_002693.3(POLG):c.204G>C (p.Gln68His)
|
|
|
NM_002693.3(POLG):c.2052T>C (p.Asn684=)
|
rs919483524
|
|
NM_002693.3(POLG):c.2054G>A (p.Ser685Asn)
|
rs775662032
|
|
NM_002693.3(POLG):c.2059A>G (p.Ile687Val)
|
rs796052881
|
|
NM_002693.3(POLG):c.2062T>C (p.Trp688Arg)
|
rs2055437637
|
|
NM_002693.3(POLG):c.2067A>G (p.Gln689=)
|
|
|
NM_002693.3(POLG):c.2070+10G>C
|
|
|
NM_002693.3(POLG):c.2070+12C>T
|
|
|
NM_002693.3(POLG):c.2070+13T>C
|
|
|
NM_002693.3(POLG):c.2070+13T>G
|
rs778253752
|
|
NM_002693.3(POLG):c.2070+19C>T
|
|
|
NM_002693.3(POLG):c.2070+8C>T
|
|
|
NM_002693.3(POLG):c.2070G>A (p.Thr690=)
|
|
|
NM_002693.3(POLG):c.2071-10A>T
|
|
|
NM_002693.3(POLG):c.2071-13T>C
|
|
|
NM_002693.3(POLG):c.2071-15C>T
|
rs1567188502
|
|
NM_002693.3(POLG):c.2071-16C>G
|
|
|
NM_002693.3(POLG):c.2071-19G>A
|
rs1042766729
|
|
NM_002693.3(POLG):c.2071-19G>C
|
|
|
NM_002693.3(POLG):c.2071-6C>T
|
|
|
NM_002693.3(POLG):c.2071G>A (p.Val691Ile)
|
rs2152063222
|
|
NM_002693.3(POLG):c.2072T>C (p.Val691Ala)
|
|
|
NM_002693.3(POLG):c.2073A>C (p.Val691=)
|
|
|
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)
|
rs760784347
|
|
NM_002693.3(POLG):c.2075A>C (p.Glu692Ala)
|
|
|
NM_002693.3(POLG):c.2075A>G (p.Glu692Gly)
|
|
|
NM_002693.3(POLG):c.2079A>G (p.Glu693=)
|
|
|
NM_002693.3(POLG):c.2080C>T (p.Leu694=)
|
rs369609849
|
|
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)
|
|
|
NM_002693.3(POLG):c.2085_2098del (p.Asp695fs)
|
|
|
NM_002693.3(POLG):c.2089T>A (p.Leu697Ile)
|
|
|
NM_002693.3(POLG):c.2091A>G (p.Leu697=)
|
|
|
NM_002693.3(POLG):c.2093A>G (p.Glu698Gly)
|
|
|
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)
|
rs2152063213
|
|
NM_002693.3(POLG):c.2095G>A (p.Val699Met)
|
|
|
NM_002693.3(POLG):c.2097G>A (p.Val699=)
|
rs2152063210
|
|
NM_002693.3(POLG):c.2098G>C (p.Glu700Gln)
|
|
|
NM_002693.3(POLG):c.209G>A (p.Arg70Gln)
|
rs1031558097
|
|
NM_002693.3(POLG):c.2103T>C (p.Ala701=)
|
rs2152063194
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
NM_002693.3(POLG):c.210G>A (p.Arg70=)
|
|
|
NM_002693.3(POLG):c.210G>C (p.Arg70=)
|
rs751225754
|
|
NM_002693.3(POLG):c.210G>T (p.Arg70=)
|
rs751225754
|
|
NM_002693.3(POLG):c.2113A>G (p.Met705Val)
|
rs2152063192
|
|
NM_002693.3(POLG):c.2113A>T (p.Met705Leu)
|
|
|
NM_002693.3(POLG):c.211C>T (p.His71Tyr)
|
|
|
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)
|
rs755502359
|
|
NM_002693.3(POLG):c.2121C>T (p.Asn707=)
|
|
|
NM_002693.3(POLG):c.2122T>C (p.Leu708=)
|
|
|
NM_002693.3(POLG):c.2125C>A (p.Arg709=)
|
|
|
NM_002693.3(POLG):c.2125C>G (p.Arg709Gly)
|
rs867038717
|
|
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)
|
rs867038717
|
|
NM_002693.3(POLG):c.2128G>A (p.Ala710Thr)
|
|
|
NM_002693.3(POLG):c.2129C>T (p.Ala710Val)
|
rs2152063179
|
|
NM_002693.3(POLG):c.212A>G (p.His71Arg)
|
|
|
NM_002693.3(POLG):c.2133A>C (p.Ala711=)
|
|
|
NM_002693.3(POLG):c.2133A>G (p.Ala711=)
|
rs1567188446
|
|
NM_002693.3(POLG):c.2134G>A (p.Val712Met)
|
rs748834542
|
|
NM_002693.3(POLG):c.2134G>T (p.Val712Leu)
|
|
|
NM_002693.3(POLG):c.2134del (p.Val712fs)
|
|
|
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser)
|
|
|
NM_002693.3(POLG):c.2140G>A (p.Gly714Ser)
|
rs2055433258
|
|
NM_002693.3(POLG):c.2141G>C (p.Gly714Ala)
|
rs2152063163
|
|
NM_002693.3(POLG):c.2145A>T (p.Gln715His)
|
rs796052882
|
|
NM_002693.3(POLG):c.2146C>A (p.Pro716Thr)
|
|
|
NM_002693.3(POLG):c.2147C>T (p.Pro716Leu)
|
|
|
NM_002693.3(POLG):c.2148C>T (p.Pro716=)
|
|
|
NM_002693.3(POLG):c.2153C>T (p.Ala718Val)
|
rs750036881
|
|
NM_002693.3(POLG):c.2157+11C>A
|
|
|
NM_002693.3(POLG):c.2157+13C>G
|
|
|
NM_002693.3(POLG):c.2157+6C>T
|
rs1596354603
|
|
NM_002693.3(POLG):c.2157+8G>A
|
rs548035719
|
|
NM_002693.3(POLG):c.2157+8G>C
|
|
|
NM_002693.3(POLG):c.2157+8G>T
|
rs548035719
|
|
NM_002693.3(POLG):c.2157G>A (p.Leu719=)
|
rs2055432894
|
|
NM_002693.3(POLG):c.2158-10G>A
|
rs1555453090
|
|
NM_002693.3(POLG):c.2158-12T>C
|
|
|
NM_002693.3(POLG):c.2158-16T>G
|
|
|
NM_002693.3(POLG):c.2158-17G>A
|
|
|
NM_002693.3(POLG):c.2158-17G>T
|
rs1567188293
|
|
NM_002693.3(POLG):c.2158-20T>A
|
rs374951133
|
|
NM_002693.3(POLG):c.2158-20T>C
|
rs374951133
|
|
NM_002693.3(POLG):c.2158-21_2158-16dup
|
|
|
NM_002693.3(POLG):c.2158-8C>T
|
|
|
NM_002693.3(POLG):c.2158-9C>T
|
|
|
NM_002693.3(POLG):c.215A>G (p.Asn72Ser)
|
rs796052897
|
|
NM_002693.3(POLG):c.2160T>C (p.Thr720=)
|
|
|
NM_002693.3(POLG):c.2165G>C (p.Arg722Pro)
|
rs185645212
|
|
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu)
|
rs185645212
|
|
NM_002693.3(POLG):c.2167G>A (p.Gly723Ser)
|
rs762070650
|
|
NM_002693.3(POLG):c.2167G>C (p.Gly723Arg)
|
rs762070650
|
|
NM_002693.3(POLG):c.2167G>T (p.Gly723Cys)
|
rs762070650
|
|
NM_002693.3(POLG):c.2168G>T (p.Gly723Val)
|
rs2055428060
|
|
NM_002693.3(POLG):c.216C>T (p.Asn72=)
|
|
|
NM_002693.3(POLG):c.2172C>T (p.Gly724=)
|
rs2152062939
|
|
NM_002693.3(POLG):c.2175C>T (p.Pro725=)
|
rs2152062935
|
|
NM_002693.3(POLG):c.2179G>T (p.Asp727Tyr)
|
rs2152062930
|
|
NM_002693.3(POLG):c.2183C>G (p.Thr728Ser)
|
|
|
NM_002693.3(POLG):c.2187G>C (p.Gln729His)
|
rs539787090
|
|
NM_002693.3(POLG):c.218C>T (p.Pro73Leu)
|
|
|
NM_002693.3(POLG):c.2191A>G (p.Ser731Gly)
|
|
|
NM_002693.3(POLG):c.2193C>T (p.Ser731=)
|
|
|
NM_002693.3(POLG):c.2199C>T (p.His733=)
|
|
|
NM_002693.3(POLG):c.219A>G (p.Pro73=)
|
|
|
NM_002693.3(POLG):c.219A>T (p.Pro73=)
|
|
|
NM_002693.3(POLG):c.21G>A (p.Arg7=)
|
rs1057523280
|
|
NM_002693.3(POLG):c.2200C>G (p.His734Asp)
|
|
|
NM_002693.3(POLG):c.2203G>C (p.Gly735Arg)
|
|
|
NM_002693.3(POLG):c.2208T>C (p.Asn736=)
|
|
|
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter)
|
rs750514687
|
|
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs)
|
rs1282521429
|
|
NM_002693.3(POLG):c.2218_2220del (p.Asn740del)
|
|
|
NM_002693.3(POLG):c.2223C>T (p.Asp741=)
|
|
|
NM_002693.3(POLG):c.2235T>C (p.Pro745=)
|
|
|
NM_002693.3(POLG):c.2238C>T (p.Gly746=)
|
rs1455947188
|
|
NM_002693.3(POLG):c.2240G>A (p.Cys747Tyr)
|
rs1596354250
|
|
NM_002693.3(POLG):c.2245T>G (p.Phe749Val)
|
|
|
NM_002693.3(POLG):c.2253G>A (p.Lys751=)
|
|
|
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)
|
rs2055426653
|
|
NM_002693.3(POLG):c.2256G>A (p.Leu752=)
|
|
|
NM_002693.3(POLG):c.2257C>A (p.Pro753Thr)
|
rs1446536384
|
|
NM_002693.3(POLG):c.2258C>G (p.Pro753Arg)
|
|
|
NM_002693.3(POLG):c.2259T>G (p.Pro753=)
|
rs2055426550
|
|
NM_002693.3(POLG):c.225C>T (p.Asp75=)
|
|
|
NM_002693.3(POLG):c.2262C>G (p.His754Gln)
|
rs1567188178
|
|
NM_002693.3(POLG):c.2265+14_2265+17dup
|
|
|
NM_002693.3(POLG):c.2265+15A>G
|
rs747993559
|
|
NM_002693.3(POLG):c.2265+15A>T
|
rs747993559
|
|
NM_002693.3(POLG):c.2265+16_2265+17dup
|
|
|
NM_002693.3(POLG):c.2265+17G>A
|
rs2152062840
|
|
NM_002693.3(POLG):c.2265+18dup
|
|
|
NM_002693.3(POLG):c.2265+1G>A
|
|
|
NM_002693.3(POLG):c.2265+20C>T
|
|
|
NM_002693.3(POLG):c.2265+5G>A
|
rs2055426347
|
|
NM_002693.3(POLG):c.2265+5G>C
|
rs2055426347
|
|
NM_002693.3(POLG):c.2265+8C>G
|
|
|
NM_002693.3(POLG):c.2266-11G>C
|
rs747154432
|
|
NM_002693.3(POLG):c.2266-12del
|
|
|
NM_002693.3(POLG):c.2266-15C>G
|
|
|
NM_002693.3(POLG):c.2266-16C>T
|
|
|
NM_002693.3(POLG):c.2266-1G>A
|
rs2152062443
|
|
NM_002693.3(POLG):c.2266-4C>T
|
|
|
NM_002693.3(POLG):c.2266-6G>C
|
|
|
NM_002693.3(POLG):c.2266-7T>C
|
rs2152062447
|
|
NM_002693.3(POLG):c.2266-9T>C
|
rs2152062448
|
|
NM_002693.3(POLG):c.2273A>G (p.Asn758Ser)
|
rs2152062441
|
|
NM_002693.3(POLG):c.2281A>G (p.Asn761Asp)
|
|
|
NM_002693.3(POLG):c.2283T>C (p.Asn761=)
|
rs765593890
|
|
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)
|
rs1567187837
|
|
NM_002693.3(POLG):c.228C>T (p.Ile76=)
|
|
|
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)
|
rs1003442806
|
|
NM_002693.3(POLG):c.2294C>T (p.Pro765Leu)
|
|
|
NM_002693.3(POLG):c.2299G>A (p.Ala767Thr)
|
|
|
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)
|
|
|
NM_002693.3(POLG):c.2302A>G (p.Lys768Glu)
|
|
|
NM_002693.3(POLG):c.2309T>C (p.Phe770Ser)
|
|
|
NM_002693.3(POLG):c.2310C>T (p.Phe770=)
|
|
|
NM_002693.3(POLG):c.2311del (p.Leu771fs)
|
|
|
NM_002693.3(POLG):c.2314C>T (p.Pro772Ser)
|
rs2152062414
|
|
NM_002693.3(POLG):c.2316C>G (p.Pro772=)
|
|
|
NM_002693.3(POLG):c.2318A>G (p.Lys773Arg)
|
rs1331031308
|
|
NM_002693.3(POLG):c.231G>C (p.Gln77His)
|
|
|
NM_002693.3(POLG):c.231G>T (p.Gln77His)
|
|
|
NM_002693.3(POLG):c.2322G>A (p.Met774Ile)
|
rs754144065
|
|
NM_002693.3(POLG):c.2322G>C (p.Met774Ile)
|
|
|
NM_002693.3(POLG):c.2324A>G (p.Glu775Gly)
|
rs2152062411
|
|
NM_002693.3(POLG):c.2334C>A (p.Thr778=)
|
|
|
NM_002693.3(POLG):c.2337G>A (p.Leu779=)
|
rs766945677
|
|
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
|
|
|
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)
|
|
|
NM_002693.3(POLG):c.2341G>T (p.Ala781Ser)
|
|
|
NM_002693.3(POLG):c.2345G>T (p.Gly782Val)
|
|
|
NM_002693.3(POLG):c.2353G>A (p.Gly785Ser)
|
|
|
NM_002693.3(POLG):c.2355T>A (p.Gly785=)
|
|
|
NM_002693.3(POLG):c.2358C>A (p.Ala786=)
|
|
|
NM_002693.3(POLG):c.2358C>T (p.Ala786=)
|
|
|
NM_002693.3(POLG):c.2360G>C (p.Ser787Thr)
|
|
|
NM_002693.3(POLG):c.2364G>A (p.Gly788=)
|
|
|
NM_002693.3(POLG):c.2367C>A (p.Pro789=)
|
|
|
NM_002693.3(POLG):c.2370T>A (p.Arg790=)
|
|
|
NM_002693.3(POLG):c.2373T>C (p.Ala791=)
|
|
|
NM_002693.3(POLG):c.2374C>T (p.Leu792=)
|
|
|
NM_002693.3(POLG):c.2379A>G (p.Glu793=)
|
|
|
NM_002693.3(POLG):c.237C>G (p.Leu79=)
|
rs774537232
|
|
NM_002693.3(POLG):c.237C>T (p.Leu79=)
|
rs774537232
|
|
NM_002693.3(POLG):c.2387A>G (p.Lys796Arg)
|
rs2055414967
|
|
NM_002693.3(POLG):c.2392A>G (p.Ile798Val)
|
rs796052873
|
|
NM_002693.3(POLG):c.2395del (p.Ser799fs)
|
rs796052919
|
|
NM_002693.3(POLG):c.2399T>C (p.Phe800Ser)
|
|
|
NM_002693.3(POLG):c.2400C>T (p.Phe800=)
|
|
|
NM_002693.3(POLG):c.2405G>A (p.Arg802Lys)
|
rs545622947
|
|
NM_002693.3(POLG):c.2406G>A (p.Arg802=)
|
|
|
NM_002693.3(POLG):c.2409C>T (p.Asn803=)
|
rs1236942179
|
|
NM_002693.3(POLG):c.240G>T (p.Ser80=)
|
rs2141815443
|
|
NM_002693.3(POLG):c.2410G>C (p.Ala804Pro)
|
|
|
NM_002693.3(POLG):c.2413C>T (p.His805Tyr)
|
|
|
NM_002693.3(POLG):c.2416A>C (p.Lys806Gln)
|
|
|
NM_002693.3(POLG):c.241A>G (p.Arg81Gly)
|
rs764544892
|
|
NM_002693.3(POLG):c.2420G>C (p.Arg807Pro)
|
|
|
NM_002693.3(POLG):c.2424C>G (p.Ile808Met)
|
rs1567187747
|
|
NM_002693.3(POLG):c.2425A>C (p.Ser809Arg)
|
rs2055414422
|
|
NM_002693.3(POLG):c.2426+12T>C
|
|
|
NM_002693.3(POLG):c.2426+17G>T
|
|
|
NM_002693.3(POLG):c.2426+19A>C
|
|
|
NM_002693.3(POLG):c.2426+1G>A
|
|
|
NM_002693.3(POLG):c.2426+20G>A
|
|
|
NM_002693.3(POLG):c.2426+6C>T
|
rs2055414347
|
|
NM_002693.3(POLG):c.2426G>C (p.Ser809Thr)
|
|
|
NM_002693.3(POLG):c.2427-10G>C
|
rs1435343052
|
|
NM_002693.3(POLG):c.2427-13T>A
|
|
|
NM_002693.3(POLG):c.2427-13T>C
|
|
|
NM_002693.3(POLG):c.2427-14G>T
|
|
|
NM_002693.3(POLG):c.2427-18C>T
|
|
|
NM_002693.3(POLG):c.2427-19A>G
|
|
|
NM_002693.3(POLG):c.2427-5C>T
|
|
|
NM_002693.3(POLG):c.2427-8C>T
|
|
|
NM_002693.3(POLG):c.2435T>C (p.Met812Thr)
|
|
|
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)
|
rs1596353095
|
|
NM_002693.3(POLG):c.2440G>C (p.Val814Leu)
|
|
|
NM_002693.3(POLG):c.2445G>C (p.Trp815Cys)
|
|
|
NM_002693.3(POLG):c.244G>A (p.Gly82Arg)
|
rs139134661
|
|
NM_002693.3(POLG):c.244G>T (p.Gly82Trp)
|
rs139134661
|
|
NM_002693.3(POLG):c.2450C>T (p.Pro817Leu)
|
|
|
NM_002693.3(POLG):c.2452A>G (p.Arg818Gly)
|
|
|
NM_002693.3(POLG):c.2454G>T (p.Arg818Ser)
|
|
|
NM_002693.3(POLG):c.2456C>A (p.Ser819Ter)
|
|
|
NM_002693.3(POLG):c.2458G>A (p.Ala820Thr)
|
|
|
NM_002693.3(POLG):c.2460T>C (p.Ala820=)
|
|
|
NM_002693.3(POLG):c.2466C>T (p.Pro822=)
|
|
|
NM_002693.3(POLG):c.246G>T (p.Gly82=)
|
|
|
NM_002693.3(POLG):c.2472T>C (p.Ala824=)
|
|
|
NM_002693.3(POLG):c.2472T>G (p.Ala824=)
|
|
|
NM_002693.3(POLG):c.2473G>T (p.Val825Leu)
|
rs1344797678
|
|
NM_002693.3(POLG):c.2474T>G (p.Val825Gly)
|
|
|
NM_002693.3(POLG):c.2480+15G>A
|
|
|
NM_002693.3(POLG):c.2480+19T>C
|
|
|
NM_002693.3(POLG):c.2480+1G>T
|
|
|
NM_002693.3(POLG):c.2480+2T>C
|
|
|
NM_002693.3(POLG):c.2480+9T>A
|
rs2055403170
|
|
NM_002693.3(POLG):c.2480+9T>G
|
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.2481-11C>T
|
|
|
NM_002693.3(POLG):c.2481-13T>G
|
rs2152061781
|
|
NM_002693.3(POLG):c.2481-15C>T
|
|
|
NM_002693.3(POLG):c.2481-17C>T
|
|
|
NM_002693.3(POLG):c.2481-4C>A
|
|
|
NM_002693.3(POLG):c.2481-4C>G
|
rs764833370
|
|
NM_002693.3(POLG):c.2481-4C>T
|
|
|
NM_002693.3(POLG):c.2481-6del
|
|
|
NM_002693.3(POLG):c.2481-9C>T
|
|
|
NM_002693.3(POLG):c.2482C>G (p.His828Asp)
|
rs2152061770
|
|
NM_002693.3(POLG):c.2483A>T (p.His828Leu)
|
rs533807211
|
|
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)
|
rs906230544
|
|
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)
|
|
|
NM_002693.3(POLG):c.2488G>T (p.Asp830Tyr)
|
|
|
NM_002693.3(POLG):c.249G>C (p.Leu83=)
|
|
|
NM_002693.3(POLG):c.24G>C (p.Lys8Asn)
|
rs886044323
|
|
NM_002693.3(POLG):c.2505C>A (p.Gly835=)
|
|
|
NM_002693.3(POLG):c.2505C>T (p.Gly835=)
|
|
|
NM_002693.3(POLG):c.2508C>G (p.Leu836=)
|
|
|
NM_002693.3(POLG):c.2511T>C (p.Tyr837=)
|
rs1555452884
|
|
NM_002693.3(POLG):c.2513G>A (p.Gly838Glu)
|
rs2055400568
|
|
NM_002693.3(POLG):c.2525C>A (p.Pro842His)
|
|
|
NM_002693.3(POLG):c.2526C>T (p.Pro842=)
|
rs758903771
|
|
NM_002693.3(POLG):c.2527C>G (p.Gln843Glu)
|
|
|
NM_002693.3(POLG):c.2528A>G (p.Gln843Arg)
|
|
|
NM_002693.3(POLG):c.2530G>C (p.Val844Leu)
|
|
|
NM_002693.3(POLG):c.2531T>C (p.Val844Ala)
|
|
|
NM_002693.3(POLG):c.2532G>C (p.Val844=)
|
rs2152061718
|
|
NM_002693.3(POLG):c.2533G>T (p.Val845Leu)
|
rs766185908
|
|
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr)
|
rs750203541
|
|
NM_002693.3(POLG):c.253G>A (p.Glu85Lys)
|
|
|
NM_002693.3(POLG):c.253G>C (p.Glu85Gln)
|
|
|
NM_002693.3(POLG):c.2544C>T (p.Gly848=)
|
|
|
NM_002693.3(POLG):c.2546C>A (p.Thr849Asn)
|
|
|
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)
|
rs775445970
|
|
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)
|
|
|
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)
|
|
|
NM_002693.3(POLG):c.2555G>A (p.Arg852His)
|
rs1567187093
|
|
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)
|
|
|
NM_002693.3(POLG):c.2564T>C (p.Val855Ala)
|
rs963553787
|
|
NM_002693.3(POLG):c.256C>G (p.Gln86Glu)
|
rs2141815363
|
|
NM_002693.3(POLG):c.2571C>T (p.Pro857=)
|
|
|
NM_002693.3(POLG):c.2574A>G (p.Thr858=)
|
|
|
NM_002693.3(POLG):c.257A>C (p.Gln86Pro)
|
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
|
NM_002693.3(POLG):c.2585C>T (p.Ala862Val)
|
rs2152061668
|
|
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)
|
rs121918050
|
|
NM_002693.3(POLG):c.2593G>T (p.Ala865Ser)
|
rs1596352780
|
|
NM_002693.3(POLG):c.2594C>T (p.Ala865Val)
|
|
|
NM_002693.3(POLG):c.2595C>T (p.Ala865=)
|
|
|
NM_002693.3(POLG):c.2598+10C>G
|
|
|
NM_002693.3(POLG):c.2598+10C>T
|
|
|
NM_002693.3(POLG):c.2598+12C>G
|
|
|
NM_002693.3(POLG):c.2598+14G>A
|
|
|
NM_002693.3(POLG):c.2598+1G>A
|
|
|
NM_002693.3(POLG):c.2598+2T>C
|
rs1596352762
|
|
NM_002693.3(POLG):c.2598+7G>A
|
|
|
NM_002693.3(POLG):c.2598+9C>T
|
|
|
NM_002693.3(POLG):c.2599-12C>T
|
|
|
NM_002693.3(POLG):c.2599-19dup
|
|
|
NM_002693.3(POLG):c.2599-4A>G
|
rs2152061319
|
|
NM_002693.3(POLG):c.2599-5del
|
rs746472843
|
|
NM_002693.3(POLG):c.2599-7C>T
|
|
|
NM_002693.3(POLG):c.25G>A (p.Val9Met)
|
|
|
NM_002693.3(POLG):c.2604C>T (p.Asp868=)
|
|
|
NM_002693.3(POLG):c.2605C>A (p.Arg869=)
|
|
|
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)
|
rs751376824
|
|
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)
|
rs1356604153
|
|
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)
|
rs776347449
|
|
NM_002693.3(POLG):c.2612G>T (p.Gly871Val)
|
|
|
NM_002693.3(POLG):c.2616T>C (p.Ser872=)
|
rs2152061306
|
|
NM_002693.3(POLG):c.2622G>A (p.Leu874=)
|
|
|
NM_002693.3(POLG):c.2628C>T (p.Ala876=)
|
rs1422065234
|
|
NM_002693.3(POLG):c.2629A>G (p.Met877Val)
|
|
|
NM_002693.3(POLG):c.2637G>A (p.Gln879=)
|
rs2152061296
|
|
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
|
|
|
NM_002693.3(POLG):c.2641C>T (p.Pro881Ser)
|
|
|
NM_002693.3(POLG):c.2648G>A (p.Gly883Asp)
|
|
|
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)
|
rs144439703
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2652C>T (p.Tyr884=)
|
|
|
NM_002693.3(POLG):c.2653A>G (p.Thr885Ala)
|
rs1312677626
|
|
NM_002693.3(POLG):c.2654C>G (p.Thr885Ser)
|
rs1224799376
|
|
NM_002693.3(POLG):c.2656C>T (p.Leu886Phe)
|
|
|
NM_002693.3(POLG):c.2658T>C (p.Leu886=)
|
|
|
NM_002693.3(POLG):c.2662G>T (p.Gly888Cys)
|
|
|
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp)
|
rs878854560
|
|
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)
|
|
|
NM_002693.3(POLG):c.2667T>C (p.Ala889=)
|
|
|
NM_002693.3(POLG):c.2668G>C (p.Asp890His)
|
|
|
NM_002693.3(POLG):c.2673G>C (p.Val891=)
|
rs2152061246
|
|
NM_002693.3(POLG):c.2674dup (p.Asp892fs)
|
rs1283198587
|
|
NM_002693.3(POLG):c.2676C>T (p.Asp892=)
|
|
|
NM_002693.3(POLG):c.267G>A (p.Gly89=)
|
|
|
NM_002693.3(POLG):c.2680C>T (p.Gln894Ter)
|
|
|
NM_002693.3(POLG):c.2681A>C (p.Gln894Pro)
|
rs2152061241
|
|
NM_002693.3(POLG):c.2685G>A (p.Glu895=)
|
|
|
NM_002693.3(POLG):c.2686C>G (p.Leu896Val)
|
|
|
NM_002693.3(POLG):c.2686C>T (p.Leu896=)
|
|
|
NM_002693.3(POLG):c.2687T>C (p.Leu896Pro)
|
|
|
NM_002693.3(POLG):c.268C>T (p.Gln90Ter)
|
rs1473911378
|
|
NM_002693.3(POLG):c.2691_2703dup (p.Leu902fs)
|
rs2152061226
|
|
NM_002693.3(POLG):c.2703G>A (p.Val901=)
|
|
|
NM_002693.3(POLG):c.2712C>G (p.Asp904Glu)
|
rs770458126
|
|
NM_002693.3(POLG):c.2712C>T (p.Asp904=)
|
|
|
NM_002693.3(POLG):c.2715C>A (p.Ala905=)
|
|
|
NM_002693.3(POLG):c.2715C>T (p.Ala905=)
|
|
|
NM_002693.3(POLG):c.2724C>A (p.Ala908=)
|
|
|
NM_002693.3(POLG):c.2728A>G (p.Met910Val)
|
rs1260783813
|
|
NM_002693.3(POLG):c.2734+10A>G
|
|
|
NM_002693.3(POLG):c.2734+11G>T
|
|
|
NM_002693.3(POLG):c.2734+12C>G
|
|
|
NM_002693.3(POLG):c.2734+13del
|
|
|
NM_002693.3(POLG):c.2734+14G>A
|
|
|
NM_002693.3(POLG):c.2734+14G>T
|
|
|
NM_002693.3(POLG):c.2734+18T>A
|
|
|
NM_002693.3(POLG):c.2734+18T>C
|
|
|
NM_002693.3(POLG):c.2734+19T>G
|
|
|
NM_002693.3(POLG):c.2734+3G>A
|
rs2055389780
|
|
NM_002693.3(POLG):c.2734+9G>C
|
|
|
NM_002693.3(POLG):c.2734G>A (p.Gly912Ser)
|
|
|
NM_002693.3(POLG):c.2735-12C>T
|
|
|
NM_002693.3(POLG):c.2735-15C>A
|
|
|
NM_002693.3(POLG):c.2735-20C>G
|
rs2055387848
|
|
NM_002693.3(POLG):c.2735-7C>T
|
|
|
NM_002693.3(POLG):c.2735-9G>T
|
|
|
NM_002693.3(POLG):c.2738G>C (p.Cys913Ser)
|
|
|
NM_002693.3(POLG):c.273A>G (p.Gly91=)
|
|
|
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)
|
|
|
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr)
|
|
|
NM_002693.3(POLG):c.274G>A (p.Gly92Arg)
|
|
|
NM_002693.3(POLG):c.274G>C (p.Gly92Arg)
|
rs747837325
|
|
NM_002693.3(POLG):c.2751G>T (p.Gly917=)
|
rs2152061065
|
|
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter)
|
rs2152061062
|
|
NM_002693.3(POLG):c.2761C>A (p.Leu921Met)
|
|
|
NM_002693.3(POLG):c.2762T>C (p.Leu921Pro)
|
rs2152061053
|
|
NM_002693.3(POLG):c.2764C>T (p.Gln922Ter)
|
|
|
NM_002693.3(POLG):c.276G>A (p.Gly92=)
|
|
|
NM_002693.3(POLG):c.2775G>C (p.Lys925Asn)
|
|
|
NM_002693.3(POLG):c.2778C>T (p.Ser926=)
|
|
|
NM_002693.3(POLG):c.2782G>T (p.Gly928Cys)
|
|
|
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)
|
|
|
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)
|
|
|
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile)
|
rs1567186644
|
|
NM_002693.3(POLG):c.2791C>T (p.Leu931=)
|
|
|
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)
|
rs121918048
|
|
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)
|
|
|
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)
|
|
|
NM_002693.3(POLG):c.2799T>C (p.Ser933=)
|
rs765916932
|
|
NM_002693.3(POLG):c.279G>A (p.Glu93=)
|
rs1367245840
|
|
NM_002693.3(POLG):c.27G>C (p.Val9=)
|
|
|
NM_002693.3(POLG):c.2801A>G (p.Lys934Arg)
|
|
|
NM_002693.3(POLG):c.2802G>A (p.Lys934=)
|
|
|
NM_002693.3(POLG):c.2803A>T (p.Thr935Ser)
|
rs760431841
|
|
NM_002693.3(POLG):c.280A>T (p.Met94Leu)
|
rs778753625
|
|
NM_002693.3(POLG):c.2810C>G (p.Thr937Ser)
|
|
|
NM_002693.3(POLG):c.2819G>A (p.Gly940Asp)
|
|
|
NM_002693.3(POLG):c.2820C>T (p.Gly940=)
|
rs571319491
|
|
NM_002693.3(POLG):c.2823C>A (p.Ile941=)
|
rs1351580439
|
|
NM_002693.3(POLG):c.2826C>T (p.Ser942=)
|
|
|
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys)
|
rs1567186614
|
|
NM_002693.3(POLG):c.2827_2828insTCA (p.Arg943delinsLeuSer)
|
rs2152060994
|
|
NM_002693.3(POLG):c.2828G>A (p.Arg943His)
|
rs1567186613
|
|
NM_002693.3(POLG):c.282G>T (p.Met94Ile)
|
rs753739487
|
|
NM_002693.3(POLG):c.2834A>T (p.His945Leu)
|
|
|
NM_002693.3(POLG):c.2839A>G (p.Lys947Glu)
|
rs2152060982
|
|
NM_002693.3(POLG):c.2841A>G (p.Lys947=)
|
|
|
NM_002693.3(POLG):c.2845_2847del (p.Phe949del)
|
rs1567186596
|
|
NM_002693.3(POLG):c.2849A>G (p.Asn950Ser)
|
rs1243940170
|
|
NM_002693.3(POLG):c.284C>T (p.Pro95Leu)
|
|
|
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)
|
rs531744363
|
|
NM_002693.3(POLG):c.2858G>A (p.Arg953His)
|
rs1567186581
|
|
NM_002693.3(POLG):c.2861T>C (p.Ile954Thr)
|
rs2152060969
|
|
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)
|
rs2152060967
|
|
NM_002693.3(POLG):c.2862C>T (p.Ile954=)
|
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
NM_002693.3(POLG):c.2865T>C (p.Tyr955=)
|
rs1567186574
|
|
NM_002693.3(POLG):c.2866G>A (p.Gly956Ser)
|
|
|
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)
|
rs121918051
|
|
NM_002693.3(POLG):c.287del (p.Gly96fs)
|
rs2141815273
|
|
NM_002693.3(POLG):c.2883T>C (p.Phe961=)
|
|
|
NM_002693.3(POLG):c.2884dup (p.Ala962fs)
|
rs1252078081
|
|
NM_002693.3(POLG):c.2885C>T (p.Ala962Val)
|
|
|
NM_002693.3(POLG):c.2886T>A (p.Ala962=)
|
|
|
NM_002693.3(POLG):c.2889G>A (p.Glu963=)
|
|
|
NM_002693.3(POLG):c.288C>G (p.Gly96=)
|
rs149324249
|
|
NM_002693.3(POLG):c.2891G>C (p.Arg964Pro)
|
|
|
NM_002693.3(POLG):c.2893T>C (p.Leu965=)
|
|
|
NM_002693.3(POLG):c.2894_2897del (p.Arg964_Leu965insTer)
|
rs2152060929
|
|
NM_002693.3(POLG):c.2898A>G (p.Leu966=)
|
|
|
NM_002693.3(POLG):c.2902C>A (p.Gln968Lys)
|
|
|
NM_002693.3(POLG):c.2911C>T (p.His971Tyr)
|
|
|
NM_002693.3(POLG):c.2913C>A (p.His971Gln)
|
|
|
NM_002693.3(POLG):c.2914C>A (p.Arg972=)
|
|
|
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln)
|
rs200309005
|
|
NM_002693.3(POLG):c.2928G>C (p.Gln976His)
|
|
|
NM_002693.3(POLG):c.2931G>A (p.Glu977=)
|
|
|
NM_002693.3(POLG):c.2935G>C (p.Ala979Pro)
|
|
|
NM_002693.3(POLG):c.2943G>T (p.Lys981Asn)
|
rs1567186502
|
|
NM_002693.3(POLG):c.2944G>T (p.Ala982Ser)
|
|
|
NM_002693.3(POLG):c.2946C>A (p.Ala982=)
|
|
|
NM_002693.3(POLG):c.2948A>T (p.Gln983Leu)
|
rs756679711
|
|
NM_002693.3(POLG):c.2951A>G (p.Gln984Arg)
|
rs1780095681
|
|
NM_002693.3(POLG):c.2961T>C (p.Ala987=)
|
|
|
NM_002693.3(POLG):c.2963C>T (p.Ala988Val)
|
rs1279049508
|
|
NM_002693.3(POLG):c.2973C>T (p.Gly991=)
|
|
|
NM_002693.3(POLG):c.2976C>T (p.Leu992=)
|
|
|
NM_002693.3(POLG):c.2981+11C>T
|
|
|
NM_002693.3(POLG):c.2981+13C>G
|
|
|
NM_002693.3(POLG):c.2981+13C>T
|
|
|
NM_002693.3(POLG):c.2981+15C>T
|
|
|
NM_002693.3(POLG):c.2981+17C>T
|
|
|
NM_002693.3(POLG):c.2981+1G>C
|
|
|
NM_002693.3(POLG):c.2981+20C>G
|
|
|
NM_002693.3(POLG):c.2981+2T>G
|
rs775260762
|
|
NM_002693.3(POLG):c.2981+3G>A
|
rs769780988
|
|
NM_002693.3(POLG):c.2981+5G>C
|
|
|
NM_002693.3(POLG):c.2981+6G>A
|
|
|
NM_002693.3(POLG):c.2981+7G>A
|
|
|
NM_002693.3(POLG):c.2982-10C>T
|
rs2152059869
|
|
NM_002693.3(POLG):c.2982-12C>T
|
|
|
NM_002693.3(POLG):c.2982-16A>G
|
rs1567185886
|
|
NM_002693.3(POLG):c.2982-18T>C
|
|
|
NM_002693.3(POLG):c.2982-19G>C
|
|
|
NM_002693.3(POLG):c.2982-1G>A
|
|
|
NM_002693.3(POLG):c.2982-4C>T
|
|
|
NM_002693.3(POLG):c.2982-5C>T
|
|
|
NM_002693.3(POLG):c.2982-6C>A
|
rs796052892
|
|
NM_002693.3(POLG):c.2988G>A (p.Arg996=)
|
rs2055360184
|
|
NM_002693.3(POLG):c.2992T>C (p.Ser998Pro)
|
rs199810950
|
|
NM_002693.3(POLG):c.2994G>A (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.2994G>T (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.3003_3013del (p.Trp1003fs)
|
rs2055359441
|
|
NM_002693.3(POLG):c.3005A>G (p.Glu1002Gly)
|
|
|
NM_002693.3(POLG):c.3006G>A (p.Glu1002=)
|
rs990343459
|
|
NM_002693.3(POLG):c.3009G>C (p.Trp1003Cys)
|
rs1064796455
|
|
NM_002693.3(POLG):c.300G>T (p.Val100=)
|
rs2141815244
|
|
NM_002693.3(POLG):c.3013G>T (p.Val1005Leu)
|
rs2152059818
|
|
NM_002693.3(POLG):c.3015G>A (p.Val1005=)
|
|
|
NM_002693.3(POLG):c.3015G>T (p.Val1005=)
|
|
|
NM_002693.3(POLG):c.3017G>C (p.Arg1006Thr)
|
|
|
NM_002693.3(POLG):c.3019G>A (p.Glu1007Lys)
|
|
|
NM_002693.3(POLG):c.3022T>C (p.Leu1008=)
|
|
|
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr)
|
rs1567185808
|
|
NM_002693.3(POLG):c.3027C>T (p.Asn1009=)
|
|
|
NM_002693.3(POLG):c.302G>T (p.Arg101Leu)
|
|
|
NM_002693.3(POLG):c.3033A>G (p.Pro1011=)
|
|
|
NM_002693.3(POLG):c.3035T>C (p.Val1012Ala)
|
|
|
NM_002693.3(POLG):c.3036G>A (p.Val1012=)
|
rs965963320
|
|
NM_002693.3(POLG):c.3037G>A (p.Asp1013Asn)
|
rs1307399071
|
|
NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys)
|
rs1368475929
|
|
NM_002693.3(POLG):c.3049G>A (p.Gly1017Ser)
|
|
|
NM_002693.3(POLG):c.304C>A (p.Arg102Ser)
|
rs1328607569
|
|
NM_002693.3(POLG):c.304C>T (p.Arg102Cys)
|
rs1328607569
|
|
NM_002693.3(POLG):c.3050G>A (p.Gly1017Asp)
|
|
|
NM_002693.3(POLG):c.3051T>C (p.Gly1017=)
|
rs1555452613
|
|
NM_002693.3(POLG):c.3054C>A (p.Gly1018=)
|
|
|
NM_002693.3(POLG):c.3060T>A (p.Ile1020=)
|
rs2152059776
|
|
NM_002693.3(POLG):c.3060T>G (p.Ile1020Met)
|
|
|
NM_002693.3(POLG):c.3062C>T (p.Ser1021Phe)
|
rs2055358674
|
|
NM_002693.3(POLG):c.3064C>G (p.Leu1022Val)
|
rs2152059768
|
|
NM_002693.3(POLG):c.3066G>A (p.Leu1022=)
|
rs2152059763
|
|
NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg)
|
rs1364906906
|
|
NM_002693.3(POLG):c.306C>T (p.Arg102=)
|
|
|
NM_002693.3(POLG):c.3073C>G (p.Leu1025Val)
|
rs1421324049
|
|
NM_002693.3(POLG):c.3082G>T (p.Val1028Phe)
|
rs2055358409
|
|
NM_002693.3(POLG):c.3084C>T (p.Val1028=)
|
|
|
NM_002693.3(POLG):c.3085C>G (p.Gln1029Glu)
|
|
|
NM_002693.3(POLG):c.308G>C (p.Ser103Thr)
|
|
|
NM_002693.3(POLG):c.3091G>C (p.Glu1031Gln)
|
rs2055358274
|
|
NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs)
|
rs1555452607
|
|
NM_002693.3(POLG):c.3097_3098delinsAA (p.Ala1033Lys)
|
|
|
NM_002693.3(POLG):c.3099A>G (p.Ala1033=)
|
rs1489505790
|
|
NM_002693.3(POLG):c.3103_3104+1dup
|
|
|
NM_002693.3(POLG):c.3104+11T>A
|
|
|
NM_002693.3(POLG):c.3104+12C>T
|
|
|
NM_002693.3(POLG):c.3104+12_3104+14del
|
|
|
NM_002693.3(POLG):c.3104+15T>C
|
|
|
NM_002693.3(POLG):c.3104+16G>A
|
|
|
NM_002693.3(POLG):c.3104+1G>T
|
|
|
NM_002693.3(POLG):c.3104+2_3104+5del
|
rs761664802
|
|
NM_002693.3(POLG):c.3104+7A>G
|
|
|
NM_002693.3(POLG):c.3104+9C>T
|
rs753591682
|
|
NM_002693.3(POLG):c.3104A>G (p.Lys1035Arg)
|
|
|
NM_002693.3(POLG):c.3105-12_3105-11delinsTC
|
rs2152059497
|
|
NM_002693.3(POLG):c.3105-16G>T
|
|
|
NM_002693.3(POLG):c.3105-16_3105-15del
|
rs146915033
|
|
NM_002693.3(POLG):c.3105-17dup
|
|
|
NM_002693.3(POLG):c.3105-18C>A
|
|
|
NM_002693.3(POLG):c.3105-18C>G
|
rs2152059518
|
|
NM_002693.3(POLG):c.3105-18C>T
|
rs2152059518
|
|
NM_002693.3(POLG):c.3105-19T>C
|
rs755986798
|
|
NM_002693.3(POLG):c.3105G>A (p.Lys1035=)
|
rs1567185643
|
|
NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu)
|
rs2055354896
|
|
NM_002693.3(POLG):c.3115A>G (p.Lys1039Glu)
|
rs2152059459
|
|
NM_002693.3(POLG):c.311T>C (p.Val104Ala)
|
|
|
NM_002693.3(POLG):c.3120G>A (p.Lys1040=)
|
rs754039113
|
|
NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn)
|
rs754039113
|
|
NM_002693.3(POLG):c.3121T>C (p.Trp1041Arg)
|
rs2055354733
|
|
NM_002693.3(POLG):c.3126G>A (p.Glu1042=)
|
rs766485086
|
|
NM_002693.3(POLG):c.3128T>C (p.Val1043Ala)
|
rs1309234992
|
|
NM_002693.3(POLG):c.3135T>C (p.Ala1045=)
|
|
|
NM_002693.3(POLG):c.3136G>C (p.Glu1046Gln)
|
|
|
NM_002693.3(POLG):c.313G>C (p.Glu105Gln)
|
rs1049712904
|
|
NM_002693.3(POLG):c.3142G>A (p.Ala1048Thr)
|
|
|
NM_002693.3(POLG):c.3142G>T (p.Ala1048Ser)
|
rs762244296
|
|
NM_002693.3(POLG):c.3143C>T (p.Ala1048Val)
|
rs1483830740
|
|
NM_002693.3(POLG):c.3145T>C (p.Trp1049Arg)
|
|
|
NM_002693.3(POLG):c.3147G>C (p.Trp1049Cys)
|
|
|
NM_002693.3(POLG):c.3150G>A (p.Lys1050=)
|
|
|
NM_002693.3(POLG):c.3150G>C (p.Lys1050Asn)
|
|
|
NM_002693.3(POLG):c.3150G>T (p.Lys1050Asn)
|
rs1254460454
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu)
|
rs775248939
|
|
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)
|
|
|
NM_002693.3(POLG):c.3153G>T (p.Gly1051=)
|
|
|
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp)
|
rs769328030
|
|
NM_002693.3(POLG):c.3155dup (p.Thr1053fs)
|
rs1447799185
|
|
NM_002693.3(POLG):c.3156C>G (p.Gly1052=)
|
|
|
NM_002693.3(POLG):c.3157A>G (p.Thr1053Ala)
|
rs2055353735
|
|
NM_002693.3(POLG):c.315G>A (p.Glu105=)
|
rs1411980838
|
|
NM_002693.3(POLG):c.3165A>G (p.Ser1055=)
|
|
|
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala)
|
rs768571276
|
|
NM_002693.3(POLG):c.3168A>G (p.Glu1056=)
|
rs2152059363
|
|
NM_002693.3(POLG):c.3169A>G (p.Met1057Val)
|
|
|
NM_002693.3(POLG):c.3171G>A (p.Met1057Ile)
|
rs2152059356
|
|
NM_002693.3(POLG):c.3173T>C (p.Phe1058Ser)
|
rs1555452561
|
|
NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp)
|
rs2152059350
|
|
NM_002693.3(POLG):c.3176A>T (p.Asn1059Ile)
|
rs201192905
|
|
NM_002693.3(POLG):c.3178A>G (p.Lys1060Glu)
|
rs1444338482
|
|
NM_002693.3(POLG):c.3180G>A (p.Lys1060=)
|
|
|
NM_002693.3(POLG):c.3187A>G (p.Ser1063Gly)
|
|
|
NM_002693.3(POLG):c.3187_3188del (p.Ser1063fs)
|
|
|
NM_002693.3(POLG):c.3188G>A (p.Ser1063Asn)
|
|
|
NM_002693.3(POLG):c.318C>T (p.His106=)
|
|
|
NM_002693.3(POLG):c.3195T>C (p.Ala1065=)
|
rs756235228
|
|
NM_002693.3(POLG):c.3198G>C (p.Thr1066=)
|
|
|
NM_002693.3(POLG):c.319C>T (p.Leu107=)
|
rs1440493081
|
|
NM_002693.3(POLG):c.3206T>C (p.Ile1069Thr)
|
|
|
NM_002693.3(POLG):c.3214A>T (p.Thr1072Ser)
|
rs1237483748
|
|
NM_002693.3(POLG):c.3215C>T (p.Thr1072Ile)
|
|
|
NM_002693.3(POLG):c.3219G>C (p.Pro1073=)
|
|
|
NM_002693.3(POLG):c.3219G>T (p.Pro1073=)
|
|
|
NM_002693.3(POLG):c.3226G>C (p.Gly1076Arg)
|
|
|
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)
|
rs1567185468
|
|
NM_002693.3(POLG):c.322C>G (p.Gln108Glu)
|
rs931281951
|
|
NM_002693.3(POLG):c.3231C>T (p.Cys1077=)
|
|
|
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu)
|
rs756393846
|
|
NM_002693.3(POLG):c.3240C>G (p.Ser1080Arg)
|
|
|
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)
|
rs1064794213
|
|
NM_002693.3(POLG):c.3244G>A (p.Ala1082Thr)
|
rs1237603598
|
|
NM_002693.3(POLG):c.3247C>T (p.Leu1083=)
|
rs1349518194
|
|
NM_002693.3(POLG):c.3249_3256del (p.Glu1084fs)
|
|
|
NM_002693.3(POLG):c.3253C>A (p.Pro1085Thr)
|
|
|
NM_002693.3(POLG):c.3255dup (p.Ser1086fs)
|
rs1596350386
|
|
NM_002693.3(POLG):c.3258G>T (p.Ser1086=)
|
|
|
NM_002693.3(POLG):c.325A>G (p.Lys109Glu)
|
rs368137494
|
|
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys)
|
rs759284625
|
|
NM_002693.3(POLG):c.3268G>T (p.Glu1090Ter)
|
|
|
NM_002693.3(POLG):c.3273+13C>T
|
|
|
NM_002693.3(POLG):c.3273+16T>C
|
|
|
NM_002693.3(POLG):c.3273+20G>A
|
rs2055350373
|
|
NM_002693.3(POLG):c.3273+3_3273+6dup
|
rs2152059202
|
|
NM_002693.3(POLG):c.3273+7T>C
|
|
|
NM_002693.3(POLG):c.3273+9C>T
|
|
|
NM_002693.3(POLG):c.3274-14C>T
|
|
|
NM_002693.3(POLG):c.3274-18C>T
|
rs1279986380
|
|
NM_002693.3(POLG):c.3274-8C>T
|
rs1184674847
|
|
NM_002693.3(POLG):c.3277A>G (p.Met1093Val)
|
|
|
NM_002693.3(POLG):c.3278T>C (p.Met1093Thr)
|
rs2152058855
|
|
NM_002693.3(POLG):c.327G>A (p.Lys109=)
|
|
|
NM_002693.3(POLG):c.327G>T (p.Lys109Asn)
|
rs2055622519
|
|
NM_002693.3(POLG):c.3281C>T (p.Thr1094Ile)
|
|
|
NM_002693.3(POLG):c.3282C>G (p.Thr1094=)
|
rs773093823
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu)
|
rs368435864
|
|
NM_002693.3(POLG):c.3290T>A (p.Val1097Glu)
|
|
|
NM_002693.3(POLG):c.3298G>A (p.Val1100Met)
|
rs1567185242
|
|
NM_002693.3(POLG):c.32G>C (p.Gly11Ala)
|
|
|
NM_002693.3(POLG):c.32G>T (p.Gly11Val)
|
rs765472726
|
|
NM_002693.3(POLG):c.3301G>A (p.Val1101Ile)
|
|
|
NM_002693.3(POLG):c.3303A>G (p.Val1101=)
|
|
|
NM_002693.3(POLG):c.3303A>T (p.Val1101=)
|
|
|
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)
|
|
|
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)
|
|
|
NM_002693.3(POLG):c.3306G>T (p.Gln1102His)
|
rs1336274767
|
|
NM_002693.3(POLG):c.3309C>T (p.Ser1103=)
|
|
|
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
|
|
|
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro)
|
rs753410045
|
|
NM_002693.3(POLG):c.3316G>A (p.Val1106Ile)
|
|
|
NM_002693.3(POLG):c.3316G>T (p.Val1106Phe)
|
rs1567185212
|
|
NM_002693.3(POLG):c.3320ACT[1] (p.Tyr1108del)
|
|
|
NM_002693.3(POLG):c.3321C>T (p.Asp1107=)
|
|
|
NM_002693.3(POLG):c.3325_3328del (p.Leu1109fs)
|
rs1442498340
|
|
NM_002693.3(POLG):c.3326dup (p.Leu1109fs)
|
rs2152058768
|
|
NM_002693.3(POLG):c.3327A>C (p.Leu1109Phe)
|
rs2152058767
|
|
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)
|
|
|
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)
|
rs2152058760
|
|
NM_002693.3(POLG):c.3330C>T (p.His1110=)
|
|
|
NM_002693.3(POLG):c.3333C>A (p.Leu1111=)
|
|
|
NM_002693.3(POLG):c.3339T>C (p.Leu1113=)
|
rs1458752535
|
|
NM_002693.3(POLG):c.333G>T (p.Gly111=)
|
rs56221189
|
|
NM_002693.3(POLG):c.3342G>T (p.Val1114=)
|
|
|
NM_002693.3(POLG):c.3347T>G (p.Met1116Arg)
|
rs764036283
|
|
NM_002693.3(POLG):c.3348G>C (p.Met1116Ile)
|
|
|
NM_002693.3(POLG):c.3351G>A (p.Lys1117=)
|
|
|
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro)
|
rs2152058721
|
|
NM_002693.3(POLG):c.3357G>A (p.Leu1119=)
|
|
|
NM_002693.3(POLG):c.3358T>G (p.Phe1120Val)
|
rs776720231
|
|
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)
|
rs1064793800
|
|
NM_002693.3(POLG):c.3359T>C (p.Phe1120Ser)
|
|
|
NM_002693.3(POLG):c.3360T>G (p.Phe1120Leu)
|
rs573272388
|
|
NM_002693.3(POLG):c.3366G>A (p.Glu1122=)
|
|
|
NM_002693.3(POLG):c.3373A>G (p.Ile1125Val)
|
|
|
NM_002693.3(POLG):c.3378T>C (p.Asp1126=)
|
|
|
NM_002693.3(POLG):c.3381G>A (p.Gly1127=)
|
rs2152058695
|
|
NM_002693.3(POLG):c.3393C>T (p.Ile1131=)
|
|
|
NM_002693.3(POLG):c.3398T>C (p.Ile1133Thr)
|
|
|
NM_002693.3(POLG):c.339G>T (p.Trp113Cys)
|
|
|
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)
|
|
|
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)
|
|
|
NM_002693.3(POLG):c.3409G>A (p.Val1137Ile)
|
rs2152058666
|
|
NM_002693.3(POLG):c.3409dup (p.Val1137fs)
|
rs1555452461
|
|
NM_002693.3(POLG):c.340G>A (p.Gly114Arg)
|
|
|
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)
|
rs767138032
|
|
NM_002693.3(POLG):c.3414C>T (p.Arg1138=)
|
|
|
NM_002693.3(POLG):c.3415T>C (p.Tyr1139His)
|
rs1223325480
|
|
NM_002693.3(POLG):c.3415T>G (p.Tyr1139Asp)
|
|
|
NM_002693.3(POLG):c.3419_3442dup (p.Leu1140_Tyr1147dup)
|
rs2055342092
|
|
NM_002693.3(POLG):c.3420G>T (p.Leu1140=)
|
|
|
NM_002693.3(POLG):c.3421G>A (p.Val1141Met)
|
|
|
NM_002693.3(POLG):c.3427G>A (p.Glu1143Lys)
|
rs765123635
|
|
NM_002693.3(POLG):c.3429G>A (p.Glu1143=)
|
|
|
NM_002693.3(POLG):c.342G>T (p.Gly114=)
|
|
|
NM_002693.3(POLG):c.3430G>A (p.Glu1144Lys)
|
rs2152058622
|
|
NM_002693.3(POLG):c.3432G>A (p.Glu1144=)
|
|
|
NM_002693.3(POLG):c.3440A>G (p.Tyr1147Cys)
|
|
|
NM_002693.3(POLG):c.3443G>T (p.Arg1148Leu)
|
rs145004638
|
|
NM_002693.3(POLG):c.3449C>T (p.Ala1150Val)
|
|
|
NM_002693.3(POLG):c.3458T>G (p.Leu1153Trp)
|
rs2152058582
|
|
NM_002693.3(POLG):c.3461A>T (p.Gln1154Leu)
|
rs1567185010
|
|
NM_002693.3(POLG):c.3462G>T (p.Gln1154His)
|
|
|
NM_002693.3(POLG):c.346C>A (p.Pro116Thr)
|
rs771676521
|
|
NM_002693.3(POLG):c.3470A>C (p.Asn1157Thr)
|
rs548076633
|
|
NM_002693.3(POLG):c.3471C>T (p.Asn1157=)
|
|
|
NM_002693.3(POLG):c.3479C>T (p.Thr1160Ile)
|
|
|
NM_002693.3(POLG):c.347C>A (p.Pro116Gln)
|
rs747828222
|
|
NM_002693.3(POLG):c.347C>G (p.Pro116Arg)
|
rs747828222
|
|
NM_002693.3(POLG):c.3482+11C>T
|
rs2152058534
|
|
NM_002693.3(POLG):c.3482+12C>T
|
|
|
NM_002693.3(POLG):c.3482+13C>T
|
|
|
NM_002693.3(POLG):c.3482+19C>T
|
rs2152058516
|
|
NM_002693.3(POLG):c.3482+1G>T
|
|
|
NM_002693.3(POLG):c.3482+2T>C
|
rs1466226819
|
|
NM_002693.3(POLG):c.3482+4T>C
|
|
|
NM_002693.3(POLG):c.3482+5G>A
|
|
|
NM_002693.3(POLG):c.3482+6C>G
|
rs55779802
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3482+6_3482+44del
|
rs771537545
|
|
NM_002693.3(POLG):c.3482+7G>T
|
|
|
NM_002693.3(POLG):c.3482G>C (p.Arg1161Thr)
|
|
|
NM_002693.3(POLG):c.3483-13_3483-10dup
|
rs1324794268
|
|
NM_002693.3(POLG):c.3483-14T>C
|
rs587781119
|
|
NM_002693.3(POLG):c.3483-14T>G
|
|
|
NM_002693.3(POLG):c.3483-15T>C
|
|
|
NM_002693.3(POLG):c.3483-17G>A
|
|
|
NM_002693.3(POLG):c.3483-19T>A
|
|
|
NM_002693.3(POLG):c.3483-19_3483-17del
|
|
|
NM_002693.3(POLG):c.3483-19_3483-18delinsGG
|
|
|
NM_002693.3(POLG):c.3483-2A>G
|
rs1057518035
|
|
NM_002693.3(POLG):c.3483-7C>G
|
rs369115751
|
|
NM_002693.3(POLG):c.3483-7_3509del
|
|
|
NM_002693.3(POLG):c.3486C>T (p.Cys1162=)
|
|
|
NM_002693.3(POLG):c.3489G>A (p.Met1163Ile)
|
rs2055313946
|
|
NM_002693.3(POLG):c.3489_3553dup (p.Ile1185delinsSerLeuProThrSerTrpValTer)
|
|
|
NM_002693.3(POLG):c.3491_3492dup (p.Ala1165fs)
|
|
|
NM_002693.3(POLG):c.3500A>G (p.Lys1167Arg)
|
|
|
NM_002693.3(POLG):c.3501del (p.Lys1167fs)
|
|
|
NM_002693.3(POLG):c.3502C>T (p.Leu1168=)
|
rs2152056682
|
|
NM_002693.3(POLG):c.3506G>T (p.Gly1169Val)
|
|
|
NM_002693.3(POLG):c.3507T>A (p.Gly1169=)
|
rs563064296
|
|
NM_002693.3(POLG):c.3508C>T (p.Leu1170=)
|
|
|
NM_002693.3(POLG):c.3509T>C (p.Leu1170Pro)
|
|
|
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)
|
rs796052913
|
|
NM_002693.3(POLG):c.3510G>C (p.Leu1170=)
|
|
|
NM_002693.3(POLG):c.3511A>C (p.Asn1171His)
|
rs1567184138
|
|
NM_002693.3(POLG):c.3511A>G (p.Asn1171Asp)
|
rs1567184138
|
|
NM_002693.3(POLG):c.351C>T (p.Ala117=)
|
|
|
NM_002693.3(POLG):c.3520C>G (p.Pro1174Ala)
|
rs762019809
|
|
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter)
|
rs1567184117
|
|
NM_002693.3(POLG):c.3524A>C (p.Gln1175Pro)
|
rs188348569
|
|
NM_002693.3(POLG):c.352G>T (p.Val118Leu)
|
|
|
NM_002693.3(POLG):c.3531C>G (p.Val1177=)
|
|
|
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr)
|
rs1481381913
|
|
NM_002693.3(POLG):c.3546A>G (p.Ala1182=)
|
|
|
NM_002693.3(POLG):c.354G>T (p.Val118=)
|
|
|
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)
|
|
|
NM_002693.3(POLG):c.3553A>G (p.Ile1185Val)
|
rs2152056502
|
|
NM_002693.3(POLG):c.3554T>A (p.Ile1185Asn)
|
|
|
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr)
|
|
|
NM_002693.3(POLG):c.3555T>A (p.Ile1185=)
|
|
|
NM_002693.3(POLG):c.3555T>C (p.Ile1185=)
|
|
|
NM_002693.3(POLG):c.3556G>A (p.Asp1186Asn)
|
rs2055310876
|
|
NM_002693.3(POLG):c.3559_3560insCACC (p.Arg1187fs)
|
rs2055310700
|
|
NM_002693.3(POLG):c.3561G>A (p.Arg1187=)
|
rs62640037
|
|
NM_002693.3(POLG):c.3567C>G (p.Leu1189=)
|
|
|
NM_002693.3(POLG):c.3570G>A (p.Arg1190=)
|
rs531174853
|
|
NM_002693.3(POLG):c.3570del (p.Lys1191fs)
|
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter)
|
rs2055309922
|
|
NM_002693.3(POLG):c.3576_3580dup (p.Thr1194delinsLysTer)
|
rs2152056369
|
|
NM_002693.3(POLG):c.357C>T (p.Pro119=)
|
|
|
NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala)
|
rs751698400
|
|
NM_002693.3(POLG):c.3582C>T (p.Thr1194=)
|
rs1555452247
|
|
NM_002693.3(POLG):c.3583A>G (p.Met1195Val)
|
rs764233623
|
|
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg)
|
rs758720361
|
|
NM_002693.3(POLG):c.3590G>A (p.Cys1197Tyr)
|
|
|
NM_002693.3(POLG):c.3596C>T (p.Thr1199Ile)
|
rs970516573
|
|
NM_002693.3(POLG):c.3597C>T (p.Thr1199=)
|
rs2307443
|
|
NM_002693.3(POLG):c.35C>T (p.Ala12Val)
|
|
|
NM_002693.3(POLG):c.3601T>G (p.Ser1201Ala)
|
|
|
NM_002693.3(POLG):c.3601del (p.Ser1201fs)
|
rs781311846
|
|
NM_002693.3(POLG):c.3604A>T (p.Asn1202Tyr)
|
rs2152056248
|
|
NM_002693.3(POLG):c.3605A>C (p.Asn1202Thr)
|
rs2152056239
|
|
NM_002693.3(POLG):c.3607C>A (p.Pro1203Thr)
|
rs2055308529
|
|
NM_002693.3(POLG):c.3607C>T (p.Pro1203Ser)
|
|
|
NM_002693.3(POLG):c.3608_3612del (p.Pro1203fs)
|
|
|
NM_002693.3(POLG):c.360G>C (p.Leu120Phe)
|
|
|
NM_002693.3(POLG):c.3611C>G (p.Thr1204Ser)
|
rs1242973021
|
|
NM_002693.3(POLG):c.3612T>C (p.Thr1204=)
|
|
|
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)
|
rs772737979
|
|
NM_002693.3(POLG):c.3615G>A (p.Gly1205=)
|
rs2152056181
|
|
NM_002693.3(POLG):c.3615G>T (p.Gly1205=)
|
|
|
NM_002693.3(POLG):c.3616A>G (p.Met1206Val)
|
|
|
NM_002693.3(POLG):c.3625A>G (p.Arg1209Gly)
|
rs2055307966
|
|
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter)
|
rs139562274
|
|
NM_002693.3(POLG):c.3633G>T (p.Gly1211=)
|
rs2055307243
|
|
NM_002693.3(POLG):c.3637C>G (p.Pro1213Ala)
|
|
|
NM_002693.3(POLG):c.3639C>G (p.Pro1213=)
|
rs756156336
|
|
NM_002693.3(POLG):c.363C>G (p.Pro121=)
|
rs2055621743
|
|
NM_002693.3(POLG):c.3643+11_3643+50del
|
|
|
NM_002693.3(POLG):c.3643+13C>T
|
|
|
NM_002693.3(POLG):c.3643+14A>C
|
rs545559636
|
|
NM_002693.3(POLG):c.3643+17_3643+27del
|
|
|
NM_002693.3(POLG):c.3643+17dup
|
rs2152055961
|
|
NM_002693.3(POLG):c.3643+1G>A
|
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
NM_002693.3(POLG):c.3643+3G>A
|
rs758587842
|
|
NM_002693.3(POLG):c.3643+6C>G
|
|
|
NM_002693.3(POLG):c.3643+7A>C
|
rs1481477683
|
|
NM_002693.3(POLG):c.3644-11C>A
|
|
|
NM_002693.3(POLG):c.3644-11C>T
|
rs2055283715
|
|
NM_002693.3(POLG):c.3644-13C>T
|
|
|
NM_002693.3(POLG):c.3644-14G>A
|
rs3087375
|
|
NM_002693.3(POLG):c.3644-16T>G
|
|
|
NM_002693.3(POLG):c.3644-18A>C
|
|
|
NM_002693.3(POLG):c.3644-18A>G
|
|
|
NM_002693.3(POLG):c.3644-20C>T
|
|
|
NM_002693.3(POLG):c.3644-36_3644-5dup
|
|
|
NM_002693.3(POLG):c.3644-7C>G
|
rs2152052427
|
|
NM_002693.3(POLG):c.3644-8T>C
|
|
|
NM_002693.3(POLG):c.3644-9_3644-6dup
|
rs1361303371
|
|
NM_002693.3(POLG):c.3644-9_3644-8del
|
|
|
NM_002693.3(POLG):c.3645T>G (p.Gly1215=)
|
|
|
NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys)
|
|
|
NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp)
|
|
|
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr)
|
rs2055621716
|
|
NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly)
|
|
|
NM_002693.3(POLG):c.3654G>A (p.Leu1218=)
|
rs752513968
|
|
NM_002693.3(POLG):c.3654G>C (p.Leu1218=)
|
|
|
NM_002693.3(POLG):c.3666G>A (p.Gln1222=)
|
|
|
NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu)
|
rs148786642
|
|
NM_002693.3(POLG):c.366C>G (p.Asp122Glu)
|
|
|
NM_002693.3(POLG):c.366C>T (p.Asp122=)
|
|
|
NM_002693.3(POLG):c.3671T>A (p.Ile1224Asn)
|
|
|
NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser)
|
rs779072487
|
|
NM_002693.3(POLG):c.367G>C (p.Val123Leu)
|
rs2055621640
|
|
NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp)
|
rs371454241
|
|
NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)
|
|
|
NM_002693.3(POLG):c.3686G>T (p.Gly1229Val)
|
|
|
NM_002693.3(POLG):c.3690C>T (p.Ser1230=)
|
rs3179578
|
|
NM_002693.3(POLG):c.3691T>C (p.Leu1231=)
|
rs941120370
|
|
NM_002693.3(POLG):c.3691T>G (p.Leu1231Val)
|
rs941120370
|
|
NM_002693.3(POLG):c.3693G>A (p.Leu1231=)
|
|
|
NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)
|
|
|
NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn)
|
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)
|
rs144346886
|
|
NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter)
|
rs144346886
|
|
NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro)
|
rs750792237
|
|
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs)
|
rs2055280453
|
|
NM_002693.3(POLG):c.3705C>T (p.Ser1235=)
|
|
|
NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter)
|
|
|
NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu)
|
rs200788482
|
|
NM_002693.3(POLG):c.3711T>C (p.Pro1237=)
|
|
|
NM_002693.3(POLG):c.3711T>G (p.Pro1237=)
|
rs1191183793
|
|
NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)
|
|
|
NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr)
|
|
|
NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu)
|
|
|
NM_002693.3(POLG):c.3716del (p.Pro1239fs)
|
rs1555452076
|
|
NM_002693.3(POLG):c.3717A>G (p.Pro1239=)
|
|
|
NM_002693.3(POLG):c.371A>T (p.Glu124Val)
|
rs1418568120
|
|
NM_002693.3(POLG):c.3720G>A (p.Ter1240=)
|
rs991823575
|
|
NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr)
|
rs991823575
|
|
NM_002693.3(POLG):c.372G>T (p.Glu124Asp)
|
rs1036577228
|
|
NM_002693.3(POLG):c.373C>G (p.Leu125Val)
|
|
|
NM_002693.3(POLG):c.376C>T (p.Arg126Cys)
|
|
|
NM_002693.3(POLG):c.378C>G (p.Arg126=)
|
rs754748773
|
|
NM_002693.3(POLG):c.379C>T (p.Leu127=)
|
|
|
NM_002693.3(POLG):c.37A>G (p.Thr13Ala)
|
rs999643917
|
|
NM_002693.3(POLG):c.380_386del (p.Leu127fs)
|
rs1064794735
|
|
NM_002693.3(POLG):c.381G>A (p.Leu127=)
|
|
|
NM_002693.3(POLG):c.381G>T (p.Leu127=)
|
rs1057524724
|
|
NM_002693.3(POLG):c.384G>C (p.Pro128=)
|
rs558958919
|
|
NM_002693.3(POLG):c.388C>A (p.Leu130Ile)
|
|
|
NM_002693.3(POLG):c.390C>T (p.Leu130=)
|
rs1214539830
|
|
NM_002693.3(POLG):c.393C>T (p.Tyr131=)
|
|
|
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
|
|
|
NM_002693.3(POLG):c.396G>A (p.Gly132=)
|
|
|
NM_002693.3(POLG):c.39C>G (p.Thr13=)
|
|
|
NM_002693.3(POLG):c.401A>G (p.Asn134Ser)
|
rs765542094
|
|
NM_002693.3(POLG):c.401A>T (p.Asn134Ile)
|
|
|
NM_002693.3(POLG):c.403C>T (p.Leu135=)
|
|
|
NM_002693.3(POLG):c.405G>A (p.Leu135=)
|
|
|
NM_002693.3(POLG):c.405G>C (p.Leu135=)
|
|
|
NM_002693.3(POLG):c.409C>T (p.Gln137Ter)
|
rs1057517891
|
|
NM_002693.3(POLG):c.410A>G (p.Gln137Arg)
|
|
|
NM_002693.3(POLG):c.411G>A (p.Gln137=)
|
|
|
NM_002693.3(POLG):c.414C>G (p.His138Gln)
|
|
|
NM_002693.3(POLG):c.414C>T (p.His138=)
|
rs916364510
|
|
NM_002693.3(POLG):c.416T>G (p.Phe139Cys)
|
rs2141814897
|
|
NM_002693.3(POLG):c.418C>T (p.Arg140Cys)
|
rs761248036
|
|
NM_002693.3(POLG):c.421C>T (p.Leu141Phe)
|
|
|
NM_002693.3(POLG):c.42C>T (p.Val14=)
|
|
|
NM_002693.3(POLG):c.430C>G (p.Gln144Glu)
|
rs2141814867
|
|
NM_002693.3(POLG):c.434A>G (p.Lys145Arg)
|
|
|
NM_002693.3(POLG):c.435G>A (p.Lys145=)
|
rs2141814859
|
|
NM_002693.3(POLG):c.438G>C (p.Gln146His)
|
|
|
NM_002693.3(POLG):c.439A>G (p.Ser147Gly)
|
|
|
NM_002693.3(POLG):c.439A>T (p.Ser147Cys)
|
|
|
NM_002693.3(POLG):c.441C>T (p.Ser147=)
|
rs2141814842
|
|
NM_002693.3(POLG):c.442C>T (p.Leu148=)
|
|
|
NM_002693.3(POLG):c.444G>T (p.Leu148=)
|
rs2141814828
|
|
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys)
|
rs2055620034
|
|
NM_002693.3(POLG):c.450C>T (p.Tyr150=)
|
|
|
NM_002693.3(POLG):c.451C>T (p.Leu151=)
|
|
|
NM_002693.3(POLG):c.452T>G (p.Leu151Arg)
|
|
|
NM_002693.3(POLG):c.456G>A (p.Glu152=)
|
|
|
NM_002693.3(POLG):c.459G>A (p.Ala153=)
|
|
|
NM_002693.3(POLG):c.46C>T (p.Pro16Ser)
|
|
|
NM_002693.3(POLG):c.471G>C (p.Leu157=)
|
rs745813477
|
|
NM_002693.3(POLG):c.471G>T (p.Leu157=)
|
|
|
NM_002693.3(POLG):c.482A>G (p.Gln161Arg)
|
rs2141814756
|
|
NM_002693.3(POLG):c.486G>A (p.Leu162=)
|
|
|
NM_002693.3(POLG):c.489C>T (p.Pro163=)
|
rs1057520491
|
|
NM_002693.3(POLG):c.48A>C (p.Pro16=)
|
rs1041095432
|
|
NM_002693.3(POLG):c.490C>A (p.Pro164Thr)
|
|
|
NM_002693.3(POLG):c.491C>T (p.Pro164Leu)
|
rs1169437119
|
|
NM_002693.3(POLG):c.497C>T (p.Pro166Leu)
|
|
|
NM_002693.3(POLG):c.500C>T (p.Pro167Leu)
|
rs1424057005
|
|
NM_002693.3(POLG):c.501G>A (p.Pro167=)
|
rs886044612
|
|
NM_002693.3(POLG):c.501G>C (p.Pro167=)
|
|
|
NM_002693.3(POLG):c.508G>T (p.Ala170Ser)
|
|
|
NM_002693.3(POLG):c.509C>T (p.Ala170Val)
|
|
|
NM_002693.3(POLG):c.510C>G (p.Ala170=)
|
|
|
NM_002693.3(POLG):c.510_515dup (p.169WA[3])
|
rs2141814680
|
|
NM_002693.3(POLG):c.514_525del (p.Ala172_Trp175del)
|
|
|
NM_002693.3(POLG):c.519G>A (p.Glu173=)
|
|
|
NM_002693.3(POLG):c.51G>A (p.Gly17=)
|
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
NM_002693.3(POLG):c.52C>T (p.Pro18Ser)
|
rs3087373
|
|
NM_002693.3(POLG):c.530G>T (p.Arg177Leu)
|
|
|
NM_002693.3(POLG):c.531G>A (p.Arg177=)
|
|
|
NM_002693.3(POLG):c.534C>T (p.Tyr178=)
|
rs766962517
|
|
NM_002693.3(POLG):c.536G>T (p.Gly179Val)
|
|
|
NM_002693.3(POLG):c.537C>G (p.Gly179=)
|
|
|
NM_002693.3(POLG):c.53C>A (p.Pro18Gln)
|
rs1394515933
|
|
NM_002693.3(POLG):c.53C>T (p.Pro18Leu)
|
rs1394515933
|
|
NM_002693.3(POLG):c.540C>T (p.Pro180=)
|
|
|
NM_002693.3(POLG):c.549G>C (p.Glu183Asp)
|
rs1555454267
|
|
NM_002693.3(POLG):c.551C>T (p.Ala184Val)
|
rs1567193930
|
|
NM_002693.3(POLG):c.552C>T (p.Ala184=)
|
|
|
NM_002693.3(POLG):c.552_657del (p.Val185fs)
|
|
|
NM_002693.3(POLG):c.553G>A (p.Val185Ile)
|
rs953495957
|
|
NM_002693.3(POLG):c.559G>C (p.Val187Leu)
|
rs1555454261
|
|
NM_002693.3(POLG):c.562G>A (p.Ala188Thr)
|
|
|
NM_002693.3(POLG):c.563C>G (p.Ala188Gly)
|
|
|
NM_002693.3(POLG):c.568C>G (p.Pro190Ala)
|
|
|
NM_002693.3(POLG):c.569C>T (p.Pro190Leu)
|
rs1179914559
|
|
NM_002693.3(POLG):c.570C>A (p.Pro190=)
|
|
|
NM_002693.3(POLG):c.578G>C (p.Arg193Pro)
|
|
|
NM_002693.3(POLG):c.57T>G (p.Val19=)
|
|
|
NM_002693.3(POLG):c.582C>T (p.Ala194=)
|
|
|
NM_002693.3(POLG):c.586G>A (p.Val196Met)
|
|
|
NM_002693.3(POLG):c.588G>C (p.Val196=)
|
|
|
NM_002693.3(POLG):c.58C>T (p.Pro20Ser)
|
rs1596362883
|
|
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
|
|
|
NM_002693.3(POLG):c.591C>A (p.Phe197Leu)
|
|
|
NM_002693.3(POLG):c.595G>C (p.Val199Leu)
|
|
|
NM_002693.3(POLG):c.595G>T (p.Val199Leu)
|
|
|
NM_002693.3(POLG):c.600G>A (p.Glu200=)
|
|
|
NM_002693.3(POLG):c.601G>T (p.Val201Phe)
|
rs2141814471
|
|
NM_002693.3(POLG):c.603C>G (p.Val201=)
|
|
|
NM_002693.3(POLG):c.60A>G (p.Pro20=)
|
rs944054671
|
|
NM_002693.3(POLG):c.614A>G (p.Glu205Gly)
|
rs2055617012
|
|
NM_002693.3(POLG):c.617G>A (p.Gly206Glu)
|
rs2055616949
|
|
NM_002693.3(POLG):c.61G>T (p.Ala21Ser)
|
|
|
NM_002693.3(POLG):c.620C>G (p.Thr207Ser)
|
|
|
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)
|
rs1159974816
|
|
NM_002693.3(POLG):c.625C>G (p.Pro209Ala)
|
|
|
NM_002693.3(POLG):c.62C>T (p.Ala21Val)
|
rs796052893
|
|
NM_002693.3(POLG):c.630A>C (p.Thr210=)
|
|
|
NM_002693.3(POLG):c.630A>G (p.Thr210=)
|
|
|
NM_002693.3(POLG):c.631T>C (p.Leu211=)
|
|
|
NM_002693.3(POLG):c.638T>C (p.Val213Ala)
|
rs1596362016
|
|
NM_002693.3(POLG):c.63T>A (p.Ala21=)
|
|
|
NM_002693.3(POLG):c.641C>T (p.Ala214Val)
|
rs948866053
|
|
NM_002693.3(POLG):c.642C>T (p.Ala214=)
|
|
|
NM_002693.3(POLG):c.646del (p.Ser216fs)
|
rs1567193844
|
|
NM_002693.3(POLG):c.647C>A (p.Ser216Tyr)
|
|
|
NM_002693.3(POLG):c.647C>T (p.Ser216Phe)
|
rs763592738
|
|
NM_002693.3(POLG):c.64C>A (p.Pro22Thr)
|
|
|
NM_002693.3(POLG):c.651C>G (p.Pro217=)
|
|
|
NM_002693.3(POLG):c.659+11G>T
|
rs3087379
|
|
NM_002693.3(POLG):c.659+13A>G
|
|
|
NM_002693.3(POLG):c.659+14G>C
|
|
|
NM_002693.3(POLG):c.659+14G>T
|
|
|
NM_002693.3(POLG):c.659+15G>A
|
rs2055615863
|
|
NM_002693.3(POLG):c.659+15G>C
|
|
|
NM_002693.3(POLG):c.659+16G>C
|
|
|
NM_002693.3(POLG):c.659+16_659+33del
|
|
|
NM_002693.3(POLG):c.659+16del
|
rs745807900
|
|
NM_002693.3(POLG):c.659+1G>T
|
|
|
NM_002693.3(POLG):c.659+6T>C
|
rs1429417228
|
|
NM_002693.3(POLG):c.659+7A>G
|
|
|
NM_002693.3(POLG):c.660-10C>T
|
|
|
NM_002693.3(POLG):c.660-11A>C
|
|
|
NM_002693.3(POLG):c.660-11A>G
|
rs369731644
|
|
NM_002693.3(POLG):c.660-12C>G
|
|
|
NM_002693.3(POLG):c.660-16C>T
|
|
|
NM_002693.3(POLG):c.660-2A>G
|
rs2141806882
|
|
NM_002693.3(POLG):c.660G>A (p.Trp220Ter)
|
rs1596360430
|
|
NM_002693.3(POLG):c.663T>C (p.Tyr221=)
|
rs1596360425
|
|
NM_002693.3(POLG):c.666C>T (p.Ser222=)
|
rs1169956926
|
|
NM_002693.3(POLG):c.673A>G (p.Ser225Gly)
|
|
|
NM_002693.3(POLG):c.67_88del (p.Gly23fs)
|
rs2055630470
|
|
NM_002693.3(POLG):c.680G>A (p.Arg227Gln)
|
|
|
NM_002693.3(POLG):c.684G>A (p.Leu228=)
|
rs2141806818
|
|
NM_002693.3(POLG):c.691G>A (p.Glu231Lys)
|
|
|
NM_002693.3(POLG):c.695G>C (p.Arg232Pro)
|
rs113994093
|
|
NM_002693.3(POLG):c.702T>C (p.Ser234=)
|
rs2141806756
|
|
NM_002693.3(POLG):c.70C>A (p.Arg24Ser)
|
rs1196273210
|
|
NM_002693.3(POLG):c.718T>C (p.Ser240Pro)
|
rs2141806695
|
|
NM_002693.3(POLG):c.71G>T (p.Arg24Leu)
|
|
|
NM_002693.3(POLG):c.720G>A (p.Ser240=)
|
|
|
NM_002693.3(POLG):c.725C>A (p.Ala242Asp)
|
|
|
NM_002693.3(POLG):c.729C>A (p.Asp243Glu)
|
rs757917194
|
|
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)
|
|
|
NM_002693.3(POLG):c.735C>A (p.Ile245=)
|
|
|
NM_002693.3(POLG):c.739dup (p.Leu247fs)
|
|
|
NM_002693.3(POLG):c.745G>T (p.Val249Phe)
|
|
|
NM_002693.3(POLG):c.74G>T (p.Trp25Leu)
|
|
|
NM_002693.3(POLG):c.751A>C (p.Thr251Pro)
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NM_002693.3(POLG):c.755G>C (p.Gly252Ala)
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NM_002693.3(POLG):c.757G>C (p.Ala253Pro)
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NM_002693.3(POLG):c.760A>T (p.Ser254Cys)
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NM_002693.3(POLG):c.761G>A (p.Ser254Asn)
|
rs2055575699
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NM_002693.3(POLG):c.767C>G (p.Pro256Arg)
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NM_002693.3(POLG):c.768C>T (p.Pro256=)
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NM_002693.3(POLG):c.76G>A (p.Val26Ile)
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NM_002693.3(POLG):c.771C>G (p.Thr257=)
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NM_002693.3(POLG):c.773A>G (p.Gln258Arg)
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rs761830723
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NM_002693.3(POLG):c.777A>G (p.Arg259=)
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NM_002693.3(POLG):c.78C>T (p.Val26=)
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NM_002693.3(POLG):c.790C>A (p.Gln264Lys)
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NM_002693.3(POLG):c.796G>C (p.Val266Leu)
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NM_002693.3(POLG):c.798G>C (p.Val266=)
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NM_002693.3(POLG):c.810T>A (p.Asn270Lys)
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NM_002693.3(POLG):c.811G>A (p.Val271Ile)
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rs2141806409
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NM_002693.3(POLG):c.814T>A (p.Ser272Thr)
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rs1567192772
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NM_002693.3(POLG):c.814T>C (p.Ser272Pro)
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NM_002693.3(POLG):c.815C>G (p.Ser272Cys)
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NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
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rs1555453950
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NM_002693.3(POLG):c.826G>A (p.Ala276Thr)
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rs778531134
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NM_002693.3(POLG):c.830A>G (p.His277Arg)
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rs138929605
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NM_002693.3(POLG):c.830A>T (p.His277Leu)
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rs138929605
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NM_002693.3(POLG):c.831T>C (p.His277=)
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NM_002693.3(POLG):c.832A>G (p.Ile278Val)
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NM_002693.3(POLG):c.845A>G (p.Tyr282Cys)
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NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)
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rs2152068651
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NM_002693.3(POLG):c.847C>T (p.Leu283=)
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NM_002693.3(POLG):c.848T>C (p.Leu283Pro)
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NM_002693.3(POLG):c.855+13G>C
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NM_002693.3(POLG):c.855+16C>A
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rs1567192747
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NM_002693.3(POLG):c.855+17del
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NM_002693.3(POLG):c.855+4A>G
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rs1596360240
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NM_002693.3(POLG):c.855+9C>A
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NM_002693.3(POLG):c.856-12C>T
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NM_002693.3(POLG):c.856-14C>A
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NM_002693.3(POLG):c.856-15C>A
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NM_002693.3(POLG):c.856-15C>G
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NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
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NM_002693.3(POLG):c.856-17CTC[6]
|
rs200056162
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NM_002693.3(POLG):c.856-18_856-16del
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NM_002693.3(POLG):c.856-6C>T
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rs543449991
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NM_002693.3(POLG):c.856-8C>T
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NM_002693.3(POLG):c.856G>C (p.Gly286Arg)
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NM_002693.3(POLG):c.85T>C (p.Ser29Pro)
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NM_002693.3(POLG):c.865A>C (p.Met289Leu)
|
rs2152068187
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NM_002693.3(POLG):c.865A>G (p.Met289Val)
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NM_002693.3(POLG):c.866T>C (p.Met289Thr)
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rs2152068184
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NM_002693.3(POLG):c.867G>A (p.Met289Ile)
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rs2055562116
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NM_002693.3(POLG):c.872T>G (p.Phe291Cys)
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NM_002693.3(POLG):c.879C>T (p.Asp293=)
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NM_002693.3(POLG):c.87C>G (p.Ser29=)
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NM_002693.3(POLG):c.883A>G (p.Met295Val)
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rs1460331646
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NM_002693.3(POLG):c.890T>C (p.Met297Thr)
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NM_002693.3(POLG):c.897G>C (p.Met299Ile)
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NM_002693.3(POLG):c.898G>C (p.Ala300Pro)
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NM_002693.3(POLG):c.89_100del (p.Val30_Ser33del)
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NM_002693.3(POLG):c.901A>G (p.Ile301Val)
|
rs2152068160
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NM_002693.3(POLG):c.906A>G (p.Ser302=)
|
rs1383637569
|
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NM_002693.3(POLG):c.916A>G (p.Ser306Gly)
|
rs896972079
|
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NM_002693.3(POLG):c.922C>T (p.Gln308Ter)
|
rs1555453824
|
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NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
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NM_002693.3(POLG):c.927C>A (p.Arg309=)
|
rs370964643
|
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NM_002693.3(POLG):c.929G>T (p.Ser310Ile)
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|
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NM_002693.3(POLG):c.935G>A (p.Trp312Ter)
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NM_002693.3(POLG):c.935G>C (p.Trp312Ser)
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|
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NM_002693.3(POLG):c.937A>C (p.Ile313Leu)
|
rs2055560967
|
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NM_002693.3(POLG):c.93C>G (p.Pro31=)
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|
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NM_002693.3(POLG):c.93C>T (p.Pro31=)
|
rs1242493308
|
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NM_002693.3(POLG):c.945C>A (p.Ala315=)
|
rs1596359643
|
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NM_002693.3(POLG):c.94G>A (p.Ala32Thr)
|
|
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NM_002693.3(POLG):c.950A>G (p.Gln317Arg)
|
rs2152068136
|
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NM_002693.3(POLG):c.951G>A (p.Gln317=)
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|
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NM_002693.3(POLG):c.952G>A (p.Gly318Ser)
|
|
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NM_002693.3(POLG):c.964G>A (p.Val322Ile)
|
rs1204119738
|
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NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
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|
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NM_002693.3(POLG):c.968A>G (p.Gln323Arg)
|
rs2055560405
|
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NM_002693.3(POLG):c.96G>A (p.Ala32=)
|
|
|
NM_002693.3(POLG):c.96G>C (p.Ala32=)
|
|
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NM_002693.3(POLG):c.96G>T (p.Ala32=)
|
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
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NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
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NM_002693.3(POLG):c.971C>A (p.Pro324His)
|
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_002693.3(POLG):c.975C>G (p.Pro325=)
|
rs551973680
|
|
NM_002693.3(POLG):c.975C>T (p.Pro325=)
|
rs551973680
|
|
NM_002693.3(POLG):c.977C>T (p.Thr326Ile)
|
|
|
NM_002693.3(POLG):c.979A>G (p.Lys327Glu)
|
|
|
NM_002693.3(POLG):c.981G>A (p.Lys327=)
|
|
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NM_002693.3(POLG):c.983A>G (p.Gln328Arg)
|
rs886043556
|
|
NM_002693.3(POLG):c.987C>T (p.Gly329=)
|
rs2152068113
|
|
NM_002693.3(POLG):c.989A>G (p.Gln330Arg)
|
rs1423452317
|
|
NM_002693.3(POLG):c.990G>T (p.Gln330His)
|
|
|
NM_002693.3(POLG):c.996C>A (p.Ser332=)
|
|
|
NM_002693.3(POLG):c.996C>G (p.Ser332=)
|
rs1183183052
|
|
NM_002693.3(POLG):c.999G>A (p.Gln333=)
|
|
|
NM_002693.3(POLG):c.9C>T (p.Arg3=)
|
|
|