NM_006231.4(POLE):c.3582+17A>G
|
rs5744889
|
0.97472
|
NM_006231.4(POLE):c.6252A>G (p.Ser2084=)
|
rs5745022
|
0.66039
|
NM_006231.4(POLE):c.910-6G>C
|
rs4077170
|
0.64353
|
NM_006231.4(POLE):c.3156G>A (p.Thr1052=)
|
rs5744857
|
0.53577
|
NM_006231.4(POLE):c.4530A>G (p.Ala1510=)
|
rs5744944
|
0.53564
|
NM_006231.4(POLE):c.6330+15G>A
|
rs5745023
|
0.49667
|
NM_006231.4(POLE):c.62+15C>T
|
rs2075784
|
0.43566
|
NM_006231.4(POLE):c.6657+16C>T
|
rs5745075
|
0.34836
|
NM_006231.4(POLE):c.5707C>T (p.Leu1903=)
|
rs5744990
|
0.15505
|
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)
|
rs5744934
|
0.12807
|
NM_006231.4(POLE):c.755C>T (p.Ala252Val)
|
rs5744751
|
0.07688
|
NM_006231.4(POLE):c.2469-15G>A
|
rs5744833
|
0.07057
|
NM_006231.4(POLE):c.4444+4T>A
|
rs5744941
|
0.05640
|
NM_006231.4(POLE):c.3379-5T>C
|
rs5744886
|
0.02670
|
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)
|
rs5744856
|
0.02344
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_006231.4(POLE):c.2340G>A (p.Ser780=)
|
rs5744822
|
0.02051
|
NM_006231.4(POLE):c.2320-13A>G
|
rs75329753
|
0.01853
|
NM_006231.4(POLE):c.2550C>T (p.Ile850=)
|
rs5744834
|
0.01438
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
NM_006231.4(POLE):c.6330+18C>T
|
rs5745024
|
0.01405
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_006231.4(POLE):c.6330+19G>A
|
rs5745025
|
0.01268
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_006231.4(POLE):c.2928C>T (p.Arg976=)
|
rs5744845
|
0.00958
|
NM_006231.4(POLE):c.5583A>C (p.Ser1861=)
|
rs5744972
|
0.00949
|
NM_006231.4(POLE):c.3265_3275+15dup
|
rs1555225627
|
0.00913
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_006231.4(POLE):c.1359+18C>T
|
rs5744775
|
0.00455
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_006231.4(POLE):c.5811+16T>C
|
rs115381003
|
0.00423
|
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg)
|
rs116323660
|
0.00402
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_006231.4(POLE):c.779G>A (p.Arg260Gln)
|
rs5744752
|
0.00312
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_006231.4(POLE):c.846C>T (p.Pro282=)
|
rs5744758
|
0.00291
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_006231.3(POLE):c.-29C>G
|
rs571026345
|
0.00281
|
NM_006231.4(POLE):c.51C>G (p.Gly17=)
|
rs780436496
|
0.00240
|
NM_006231.4(POLE):c.5334C>T (p.Ala1778=)
|
rs11146986
|
0.00205
|
NM_006231.4(POLE):c.5811+13C>T
|
rs150195182
|
0.00190
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_006231.4(POLE):c.1360-6C>T
|
rs139836643
|
0.00101
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_006231.4(POLE):c.63-14C>T
|
rs373998767
|
0.00048
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_006231.4(POLE):c.2602C>T (p.Leu868=)
|
rs115830215
|
0.00035
|
NM_006231.4(POLE):c.3971G>A (p.Arg1324His)
|
rs143981093
|
0.00032
|
NM_006231.4(POLE):c.5173+17A>G
|
rs368209692
|
0.00031
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
NM_006231.4(POLE):c.4941C>T (p.Phe1647=)
|
rs145639967
|
0.00027
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006231.4(POLE):c.3379-12C>T
|
rs187618435
|
0.00023
|
NM_006231.4(POLE):c.5379-19C>T
|
rs376722984
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
NM_006231.4(POLE):c.1A>C (p.Met1Leu)
|
rs878854847
|
0.00019
|
NM_006231.4(POLE):c.3378+10A>G
|
rs193075152
|
0.00019
|
NM_006231.4(POLE):c.6006G>A (p.Ala2002=)
|
rs146902214
|
0.00019
|
NM_006231.4(POLE):c.6532-19G>T
|
rs201114228
|
0.00019
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_006231.4(POLE):c.3922C>T (p.Arg1308Trp)
|
rs763854815
|
0.00017
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg)
|
rs141396559
|
0.00012
|
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg)
|
rs780865223
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_006231.4(POLE):c.1226+13G>A
|
rs577646338
|
0.00011
|
NM_006231.4(POLE):c.1738C>A (p.His580Asn)
|
rs371149234
|
0.00011
|
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser)
|
rs369338222
|
0.00011
|
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val)
|
rs375208564
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.4291-11G>A
|
rs369564167
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)
|
rs143247306
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)
|
rs375741031
|
0.00010
|
NM_006231.4(POLE):c.2174-11G>A
|
rs111570840
|
0.00009
|
NM_006231.4(POLE):c.4005+20G>A
|
rs775205537
|
0.00009
|
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala)
|
rs147088333
|
0.00009
|
NM_006231.4(POLE):c.431A>G (p.His144Arg)
|
rs755709875
|
0.00009
|
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr)
|
rs150032060
|
0.00008
|
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)
|
rs150564856
|
0.00008
|
NM_006231.4(POLE):c.3378+7G>T
|
rs755370377
|
0.00008
|
NM_006231.4(POLE):c.926A>G (p.Asn309Ser)
|
rs767060387
|
0.00008
|
NM_006231.4(POLE):c.2639C>T (p.Thr880Met)
|
rs1337524033
|
0.00007
|
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)
|
rs531705054
|
0.00007
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.1478del (p.Leu493fs)
|
rs760070332
|
0.00006
|
NM_006231.4(POLE):c.1687-16C>G
|
rs530732187
|
0.00006
|
NM_006231.4(POLE):c.2039G>A (p.Arg680His)
|
rs763522976
|
0.00006
|
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=)
|
rs201249963
|
0.00006
|
NM_006231.4(POLE):c.4901G>A (p.Arg1634His)
|
rs760149463
|
0.00006
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
0.00006
|
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys)
|
rs116260568
|
0.00005
|
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser)
|
rs751451482
|
0.00005
|
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)
|
rs539312991
|
0.00005
|
NM_006231.4(POLE):c.3857G>A (p.Arg1286His)
|
rs771823596
|
0.00005
|
NM_006231.4(POLE):c.4011C>T (p.Ser1337=)
|
rs756716850
|
0.00005
|
NM_006231.4(POLE):c.4952+11T>A
|
rs779889181
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006231.4(POLE):c.686A>C (p.His229Pro)
|
rs1482513360
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006231.4(POLE):c.1336C>T (p.Arg446Trp)
|
rs200403177
|
0.00004
|
NM_006231.4(POLE):c.1411A>G (p.Met471Val)
|
rs749021187
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.1924-6T>C
|
rs755311168
|
0.00004
|
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys)
|
rs764044031
|
0.00004
|
NM_006231.4(POLE):c.2174-15C>T
|
rs750771177
|
0.00004
|
NM_006231.4(POLE):c.2468+19G>A
|
rs768950827
|
0.00004
|
NM_006231.4(POLE):c.3275+16A>G
|
rs5744858
|
0.00004
|
NM_006231.4(POLE):c.3379-18C>T
|
rs1057517632
|
0.00004
|
NM_006231.4(POLE):c.3939G>A (p.Thr1313=)
|
rs150282789
|
0.00004
|
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile)
|
rs138443282
|
0.00004
|
NM_006231.4(POLE):c.4149+12C>G
|
rs566422403
|
0.00004
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp)
|
rs764904030
|
0.00004
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)
|
rs150545516
|
0.00004
|
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr)
|
rs373468985
|
0.00004
|
NM_006231.4(POLE):c.465G>A (p.Leu155=)
|
rs1340414570
|
0.00004
|
NM_006231.4(POLE):c.4952+17C>T
|
rs750268044
|
0.00004
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
NM_006231.4(POLE):c.555C>T (p.Asp185=)
|
rs763871536
|
0.00004
|
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)
|
rs748008084
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_006231.4(POLE):c.720+16T>C
|
rs200320553
|
0.00004
|
NM_006231.4(POLE):c.863C>G (p.Ala288Gly)
|
rs771619667
|
0.00004
|
NM_006231.4(POLE):c.909G>C (p.Gln303His)
|
rs779801916
|
0.00004
|
NM_006231.4(POLE):c.1021-11C>T
|
rs781431436
|
0.00003
|
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr)
|
rs576578672
|
0.00003
|
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys)
|
rs199746481
|
0.00003
|
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg)
|
rs757186755
|
0.00003
|
NM_006231.4(POLE):c.138del (p.Leu46fs)
|
rs1555230420
|
0.00003
|
NM_006231.4(POLE):c.1450A>G (p.Ile484Val)
|
rs1027889796
|
0.00003
|
NM_006231.4(POLE):c.1641C>A (p.Leu547=)
|
rs267603387
|
0.00003
|
NM_006231.4(POLE):c.1795-14C>T
|
rs369023182
|
0.00003
|
NM_006231.4(POLE):c.2276G>A (p.Arg759His)
|
rs746774432
|
0.00003
|
NM_006231.4(POLE):c.3090C>T (p.Phe1030=)
|
rs766306895
|
0.00003
|
NM_006231.4(POLE):c.3228C>T (p.Cys1076=)
|
rs767929667
|
0.00003
|
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val)
|
rs373707446
|
0.00003
|
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu)
|
rs572986717
|
0.00003
|
NM_006231.4(POLE):c.424-10C>T
|
rs748433747
|
0.00003
|
NM_006231.4(POLE):c.4269C>T (p.Ile1423=)
|
rs761413102
|
0.00003
|
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys)
|
rs766511597
|
0.00003
|
NM_006231.4(POLE):c.4799T>C (p.Ile1600Thr)
|
rs945434123
|
0.00003
|
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser)
|
rs371348453
|
0.00003
|
NM_006231.4(POLE):c.5173+10C>T
|
rs371098994
|
0.00003
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
NM_006231.4(POLE):c.5478G>T (p.Arg1826=)
|
rs537648186
|
0.00003
|
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=)
|
rs201656807
|
0.00003
|
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
|
rs1057524549
|
0.00003
|
NM_006231.4(POLE):c.6818C>T (p.Thr2273Ile)
|
rs779145729
|
0.00003
|
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro)
|
rs766094330
|
0.00002
|
NM_006231.4(POLE):c.1181A>G (p.Gln394Arg)
|
rs1014444345
|
0.00002
|
NM_006231.4(POLE):c.1277C>T (p.Ala426Val)
|
rs374920539
|
0.00002
|
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp)
|
rs367902268
|
0.00002
|
NM_006231.4(POLE):c.2343G>A (p.Ala781=)
|
rs199751241
|
0.00002
|
NM_006231.4(POLE):c.2888G>A (p.Gly963Asp)
|
rs777454763
|
0.00002
|
NM_006231.4(POLE):c.318T>C (p.Ile106=)
|
rs770759936
|
0.00002
|
NM_006231.4(POLE):c.3379-17G>A
|
rs907214942
|
0.00002
|
NM_006231.4(POLE):c.350C>T (p.Ser117Leu)
|
rs372057971
|
0.00002
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu)
|
rs746585658
|
0.00002
|
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys)
|
rs370971579
|
0.00002
|
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile)
|
rs372388555
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly)
|
rs372504703
|
0.00002
|
NM_006231.4(POLE):c.5970C>T (p.Ala1990=)
|
rs780933064
|
0.00002
|
NM_006231.4(POLE):c.626A>G (p.Lys209Arg)
|
rs754559038
|
0.00002
|
NM_006231.4(POLE):c.6532-11G>C
|
rs372829291
|
0.00002
|
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)
|
rs764457707
|
0.00002
|
NM_006231.4(POLE):c.6765C>G (p.Ile2255Met)
|
rs376336585
|
0.00002
|
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln)
|
rs762044635
|
0.00002
|
NM_006231.4(POLE):c.850A>G (p.Lys284Glu)
|
rs568483856
|
0.00002
|
NM_006231.4(POLE):c.876G>T (p.Gln292His)
|
rs1324298673
|
0.00002
|
NM_006231.4(POLE):c.909+20G>A
|
rs750593090
|
0.00002
|
NM_006231.4(POLE):c.1070C>T (p.Thr357Ile)
|
rs2043035482
|
0.00001
|
NM_006231.4(POLE):c.1078G>A (p.Val360Ile)
|
rs1315083272
|
0.00001
|
NM_006231.4(POLE):c.109C>T (p.Arg37Trp)
|
rs753101641
|
0.00001
|
NM_006231.4(POLE):c.1124G>A (p.Arg375Gln)
|
rs778572159
|
0.00001
|
NM_006231.4(POLE):c.1193A>G (p.Lys398Arg)
|
rs1402549512
|
0.00001
|
NM_006231.4(POLE):c.1227-4C>T
|
rs1200122093
|
0.00001
|
NM_006231.4(POLE):c.1280C>T (p.Ala427Val)
|
rs878854841
|
0.00001
|
NM_006231.4(POLE):c.1309G>A (p.Val437Met)
|
rs115047349
|
0.00001
|
NM_006231.4(POLE):c.1360-20C>G
|
rs781212006
|
0.00001
|
NM_006231.4(POLE):c.1370C>T (p.Thr457Met)
|
rs878854842
|
0.00001
|
NM_006231.4(POLE):c.1378G>A (p.Val460Met)
|
rs753586583
|
0.00001
|
NM_006231.4(POLE):c.1384G>A (p.Asp462Asn)
|
rs765946486
|
0.00001
|
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)
|
rs761765763
|
0.00001
|
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)
|
rs980578884
|
0.00001
|
NM_006231.4(POLE):c.1447A>G (p.Thr483Ala)
|
rs777736640
|
0.00001
|
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs)
|
rs1060500792
|
0.00001
|
NM_006231.4(POLE):c.1524G>T (p.Gln508His)
|
rs762030811
|
0.00001
|
NM_006231.4(POLE):c.1620C>T (p.Val540=)
|
rs746282048
|
0.00001
|
NM_006231.4(POLE):c.1704C>G (p.Asp568Glu)
|
rs1202536047
|
0.00001
|
NM_006231.4(POLE):c.1789G>A (p.Glu597Lys)
|
rs768396766
|
0.00001
|
NM_006231.4(POLE):c.198G>A (p.Met66Ile)
|
rs764962999
|
0.00001
|
NM_006231.4(POLE):c.2114G>A (p.Arg705Gln)
|
rs773738016
|
0.00001
|
NM_006231.4(POLE):c.2152T>C (p.Tyr718His)
|
rs1267528399
|
0.00001
|
NM_006231.4(POLE):c.2379C>T (p.Arg793=)
|
rs200259552
|
0.00001
|
NM_006231.4(POLE):c.2411T>G (p.Leu804Arg)
|
rs201668507
|
0.00001
|
NM_006231.4(POLE):c.2562-5T>G
|
rs1461925348
|
0.00001
|
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)
|
rs770470552
|
0.00001
|
NM_006231.4(POLE):c.2707-9G>A
|
rs1057521516
|
0.00001
|
NM_006231.4(POLE):c.2874G>T (p.Val958=)
|
rs1232360648
|
0.00001
|
NM_006231.4(POLE):c.2961C>T (p.Ser987=)
|
rs1593776050
|
0.00001
|
NM_006231.4(POLE):c.2963C>T (p.Ser988Leu)
|
rs138391248
|
0.00001
|
NM_006231.4(POLE):c.3061-12G>C
|
rs779496994
|
0.00001
|
NM_006231.4(POLE):c.3244C>T (p.Arg1082Cys)
|
rs745349336
|
0.00001
|
NM_006231.4(POLE):c.3276-30C>T
|
rs773248517
|
0.00001
|
NM_006231.4(POLE):c.3375A>G (p.Arg1125=)
|
rs1428808761
|
0.00001
|
NM_006231.4(POLE):c.3378+15C>T
|
rs574954983
|
0.00001
|
NM_006231.4(POLE):c.3382C>T (p.Leu1128=)
|
rs755839896
|
0.00001
|
NM_006231.4(POLE):c.3695A>C (p.Lys1232Thr)
|
rs774999422
|
0.00001
|
NM_006231.4(POLE):c.3834G>A (p.Lys1278=)
|
rs878854862
|
0.00001
|
NM_006231.4(POLE):c.3866G>A (p.Arg1289His)
|
rs781298285
|
0.00001
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
NM_006231.4(POLE):c.4006-3C>T
|
rs1593748957
|
0.00001
|
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val)
|
rs536988344
|
0.00001
|
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter)
|
rs151278283
|
0.00001
|
NM_006231.4(POLE):c.4150-13G>A
|
rs780409701
|
0.00001
|
NM_006231.4(POLE):c.423+20T>C
|
rs201628896
|
0.00001
|
NM_006231.4(POLE):c.424-2A>G
|
rs1555230117
|
0.00001
|
NM_006231.4(POLE):c.4336G>C (p.Val1446Leu)
|
rs878854869
|
0.00001
|
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter)
|
rs747449574
|
0.00001
|
NM_006231.4(POLE):c.4390G>C (p.Ala1464Pro)
|
rs778717624
|
0.00001
|
NM_006231.4(POLE):c.43G>A (p.Ala15Thr)
|
rs1060500788
|
0.00001
|
NM_006231.4(POLE):c.4428C>T (p.Phe1476=)
|
rs878854871
|
0.00001
|
NM_006231.4(POLE):c.4602C>T (p.His1534=)
|
rs749126952
|
0.00001
|
NM_006231.4(POLE):c.4609C>T (p.Leu1537Phe)
|
rs1418237375
|
0.00001
|
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg)
|
rs577952179
|
0.00001
|
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys)
|
rs1008362127
|
0.00001
|
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser)
|
rs556887600
|
0.00001
|
NM_006231.4(POLE):c.4881T>C (p.His1627=)
|
rs1060504049
|
0.00001
|
NM_006231.4(POLE):c.4942G>A (p.Glu1648Lys)
|
rs532781183
|
0.00001
|
NM_006231.4(POLE):c.4970T>C (p.Ile1657Thr)
|
rs1060500827
|
0.00001
|
NM_006231.4(POLE):c.5036G>A (p.Arg1679His)
|
rs748940418
|
0.00001
|
NM_006231.4(POLE):c.5046C>T (p.His1682=)
|
rs769284070
|
0.00001
|
NM_006231.4(POLE):c.5068G>A (p.Ala1690Thr)
|
rs757148947
|
0.00001
|
NM_006231.4(POLE):c.5104A>G (p.Asn1702Asp)
|
rs1431532125
|
0.00001
|
NM_006231.4(POLE):c.5152A>G (p.Ser1718Gly)
|
rs374381852
|
0.00001
|
NM_006231.4(POLE):c.5174-17G>A
|
rs201254290
|
0.00001
|
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val)
|
rs1064794641
|
0.00001
|
NM_006231.4(POLE):c.5304C>T (p.Asp1768=)
|
rs747138372
|
0.00001
|
NM_006231.4(POLE):c.5341A>G (p.Ser1781Gly)
|
rs1210128859
|
0.00001
|
NM_006231.4(POLE):c.5371A>G (p.Thr1791Ala)
|
rs775102459
|
0.00001
|
NM_006231.4(POLE):c.5379-5T>C
|
rs761910924
|
0.00001
|
NM_006231.4(POLE):c.5398G>A (p.Val1800Met)
|
rs199777048
|
0.00001
|
NM_006231.4(POLE):c.5560G>A (p.Ala1854Thr)
|
rs557167678
|
0.00001
|
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys)
|
rs138231414
|
0.00001
|
NM_006231.4(POLE):c.5678+3G>A
|
rs1060500826
|
0.00001
|
NM_006231.4(POLE):c.577A>G (p.Ser193Gly)
|
rs760588718
|
0.00001
|
NM_006231.4(POLE):c.5880T>C (p.Asp1960=)
|
rs1214579062
|
0.00001
|
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val)
|
rs201273415
|
0.00001
|
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter)
|
rs1470483579
|
0.00001
|
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu)
|
rs757480645
|
0.00001
|
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn)
|
rs905858506
|
0.00001
|
NM_006231.4(POLE):c.6093C>T (p.Ser2031=)
|
rs934958443
|
0.00001
|
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)
|
rs58916399
|
0.00001
|
NM_006231.4(POLE):c.6317A>G (p.Lys2106Arg)
|
rs762471347
|
0.00001
|
NM_006231.4(POLE):c.631A>T (p.Ile211Leu)
|
rs1064796126
|
0.00001
|
NM_006231.4(POLE):c.6325T>C (p.Cys2109Arg)
|
rs1387352431
|
0.00001
|
NM_006231.4(POLE):c.6380G>A (p.Arg2127Gln)
|
rs199613242
|
0.00001
|
NM_006231.4(POLE):c.6540G>A (p.Ala2180=)
|
rs746976542
|
0.00001
|
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn)
|
rs1472336573
|
0.00001
|
NM_006231.4(POLE):c.664C>T (p.Arg222Cys)
|
rs767503360
|
0.00001
|
NM_006231.4(POLE):c.6664C>T (p.Leu2222=)
|
rs1160915539
|
0.00001
|
NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys)
|
rs765125852
|
0.00001
|
NM_006231.4(POLE):c.706C>T (p.Leu236=)
|
rs553397628
|
0.00001
|
NM_006231.4(POLE):c.717C>T (p.His239=)
|
rs567612169
|
0.00001
|
NM_006231.4(POLE):c.725A>G (p.His242Arg)
|
rs767612904
|
0.00001
|
NM_006231.4(POLE):c.747A>G (p.Arg249=)
|
rs1002061657
|
0.00001
|
NM_006231.4(POLE):c.775C>T (p.Arg259Cys)
|
rs777638541
|
0.00001
|
NM_006231.4(POLE):c.796C>T (p.Arg266Ter)
|
rs767666219
|
0.00001
|
NM_006231.4(POLE):c.893A>G (p.Tyr298Cys)
|
rs2043057513
|
0.00001
|
NM_006231.4(POLE):c.895A>G (p.Met299Val)
|
rs370727992
|
0.00001
|
NM_006231.4(POLE):c.901G>A (p.Asp301Asn)
|
rs1060500882
|
0.00001
|
NM_006231.4(POLE):c.93A>C (p.Ala31=)
|
rs746063190
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006231.4(POLE):c.974A>G (p.Lys325Arg)
|
rs1555229291
|
0.00001
|
NC_000012.11:g.(?_132414268)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133201273)_(133263911_?)dup
|
|
|
NC_000012.11:g.(?_133201277)_(133263907_?)dup
|
|
|
NC_000012.11:g.(?_133201283)_(133209391_?)dup
|
|
|
NC_000012.11:g.(?_133201283)_(133212620_?)dup
|
|
|
NC_000012.11:g.(?_133201283)_(133225668_?)del
|
|
|
NC_000012.11:g.(?_133201283)_(133250303_?)dup
|
|
|
NC_000012.11:g.(?_133201283)_(133263901_?)del
|
|
|
NC_000012.11:g.(?_133202345)_(133210161_?)del
|
|
|
NC_000012.11:g.(?_133202693)_(133263901_?)del
|
|
|
NC_000012.11:g.(?_133208891)_(133212620_?)del
|
|
|
NC_000012.11:g.(?_133208891)_(133257875_?)del
|
|
|
NC_000012.11:g.(?_133210752)_(133210984_?)dup
|
|
|
NC_000012.11:g.(?_133210762)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133210817)_(133211013_?)dup
|
|
|
NC_000012.11:g.(?_133214430)_(133264149_?)del
|
|
|
NC_000012.11:g.(?_133214590)_(133215894_?)del
|
|
|
NC_000012.11:g.(?_133218957)_(133221714_?)del
|
|
|
NC_000012.11:g.(?_133222176)_133226475del
|
|
|
NC_000012.11:g.(?_133225505)_(133252113_?)del
|
|
|
NC_000012.11:g.(?_133225505)_(133263901_?)del
|
|
|
NC_000012.11:g.(?_133225509)_(133256814_?)dup
|
|
|
NC_000012.11:g.(?_133229014)_(133233732_?)del
|
|
|
NC_000012.11:g.(?_133233712)_(133236105_?)del
|
|
|
NC_000012.11:g.(?_133233712)_(133254315_?)dup
|
|
|
NC_000012.11:g.(?_133233712)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133233716)_(133263907_?)dup
|
|
|
NC_000012.11:g.(?_133233722)_(133263945_?)dup
|
|
|
NC_000012.11:g.(?_133234444)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133236030)_(133676672_?)del
|
|
|
NC_000012.11:g.(?_133237545)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133237549)_(133263907_?)dup
|
|
|
NC_000012.11:g.(?_133239587)_(133245061_?)del
|
|
|
NC_000012.11:g.(?_133240580)_(133263911_?)dup
|
|
|
NC_000012.11:g.(?_133241878)_(133263901_?)dup
|
|
|
NC_000012.11:g.(?_133248791)_(133257875_?)dup
|
|
|
NC_000012.11:g.(?_133248795)_(133257871_?)dup
|
|
|
NC_000012.11:g.(?_133252670)_(133263901_?)del
|
|
|
NC_000012.11:g.(?_133256073)_(133257875_?)dup
|
|
|
NC_000012.11:g.(?_133263830)_(133263901_?)del
|
|
|
NC_000012.11:g.(?_133263830)_(133263911_?)dup
|
|
|
NC_000012.11:g.(?_133263834)_(133263907_?)del
|
|
|
NC_000012.12:g.(?_132624677)_(132687335_?)dup
|
|
|
NC_000012.12:g.(?_132624687)_(132626327_?)del
|
|
|
NC_000012.12:g.(?_132624687)_(132626327_?)dup
|
|
|
NC_000012.12:g.(?_132624687)_(132632805_?)dup
|
|
|
NC_000012.12:g.(?_132624687)_(132673717_?)del
|
|
|
NC_000012.12:g.(?_132624687)_(132681289_?)dup
|
|
|
NC_000012.12:g.(?_132624697)_(132626327_?)dup
|
|
|
NC_000012.12:g.(?_132624697)_(132649899_?)dup
|
|
|
NC_000012.12:g.(?_132624697)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132632295)_(132687335_?)dup
|
|
|
NC_000012.12:g.(?_132632305)_(132632805_?)del
|
|
|
NC_000012.12:g.(?_132632305)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132632309)_(132636030_?)del
|
|
|
NC_000012.12:g.(?_132634176)_(132687315_?)del
|
|
|
NC_000012.12:g.(?_132635882)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132638004)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132648919)_(132649899_?)del
|
|
|
NC_000012.12:g.(?_132657126)_(132687315_?)del
|
|
|
NC_000012.12:g.(?_132657126)_(132687325_?)del
|
|
|
NC_000012.12:g.(?_132657126)_(132687325_?)dup
|
|
|
NC_000012.12:g.(?_132660959)_(132661174_?)del
|
|
|
NC_000012.12:g.(?_132660959)_(132687325_?)dup
|
|
|
NC_000012.12:g.(?_132663994)_(132687325_?)del
|
|
|
NC_000012.12:g.(?_132664360)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132672205)_(132676663_?)del
|
|
|
NC_000012.12:g.(?_132672205)_(132681289_?)del
|
|
|
NC_000012.12:g.(?_132679487)_(132681289_?)del
|
|
|
NC_000012.12:g.(?_132687244)_(132687315_?)dup
|
|
|
NC_000012.12:g.(?_132687244)_(132687325_?)del
|
|
|
NM_006231.3(POLE):c.3229_3241delinsGG (p.Arg1077fs)
|
rs1064792919
|
|
NM_006231.3(POLE):c.3347_3350delinsTT (p.Ser1116fs)
|
rs1555225303
|
|
NM_006231.3(POLE):c.63-?_1794+?dup1732
|
|
|
NM_006231.3(POLE):c.737_753delinsA (p.Val246fs)
|
rs1064792920
|
|
NM_006231.4(POLE):c.-6G>A
|
rs534524789
|
|
NM_006231.4(POLE):c.1008T>A (p.Asn336Lys)
|
|
|
NM_006231.4(POLE):c.1016A>T (p.Asp339Val)
|
rs1060500865
|
|
NM_006231.4(POLE):c.1021-6G>A
|
rs1344503517
|
|
NM_006231.4(POLE):c.1021G>C (p.Ala341Pro)
|
rs137860861
|
|
NM_006231.4(POLE):c.1025A>T (p.His342Leu)
|
rs2136012061
|
|
NM_006231.4(POLE):c.1037G>A (p.Arg346Lys)
|
rs1565975676
|
|
NM_006231.4(POLE):c.1067C>T (p.Pro356Leu)
|
rs1593077523
|
|
NM_006231.4(POLE):c.1073T>C (p.Ile358Thr)
|
rs1593077499
|
|
NM_006231.4(POLE):c.1106+7C>A
|
rs369889926
|
|
NM_006231.4(POLE):c.1119G>A (p.Glu373=)
|
rs1555229135
|
|
NM_006231.4(POLE):c.1123C>T (p.Arg375Trp)
|
rs556789278
|
|
NM_006231.4(POLE):c.1135C>T (p.His379Tyr)
|
|
|
NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)
|
|
|
NM_006231.4(POLE):c.1156G>A (p.Glu386Lys)
|
rs893340262
|
|
NM_006231.4(POLE):c.1161A>G (p.Ile387Met)
|
|
|
NM_006231.4(POLE):c.1168del (p.Gln390fs)
|
|
|
NM_006231.4(POLE):c.1171_1173del (p.Lys391del)
|
rs753999122
|
|
NM_006231.4(POLE):c.1175A>G (p.Asp392Gly)
|
rs878854840
|
|
NM_006231.4(POLE):c.1181del (p.Gln394fs)
|
rs764289504
|
|
NM_006231.4(POLE):c.1182G>C (p.Gln394His)
|
rs2136008752
|
|
NM_006231.4(POLE):c.1184_1188dup (p.Tyr397fs)
|
|
|
NM_006231.4(POLE):c.1227-2A>T
|
rs1057517609
|
|
NM_006231.4(POLE):c.1267A>G (p.Asn423Asp)
|
|
|
NM_006231.4(POLE):c.1268A>G (p.Asn423Ser)
|
|
|
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)
|
rs483352909
|
|
NM_006231.4(POLE):c.1284C>T (p.Ala428=)
|
rs1555228629
|
|
NM_006231.4(POLE):c.1284del (p.Lys429fs)
|
rs1057517613
|
|
NM_006231.4(POLE):c.1294C>G (p.Leu432Val)
|
rs750475909
|
|
NM_006231.4(POLE):c.1324G>C (p.Glu442Gln)
|
|
|
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr)
|
rs1555228573
|
|
NM_006231.4(POLE):c.1383A>T (p.Ser461=)
|
rs1565972617
|
|
NM_006231.4(POLE):c.1393G>T (p.Ala465Ser)
|
rs771526654
|
|
NM_006231.4(POLE):c.1410C>T (p.Tyr470=)
|
rs1593072345
|
|
NM_006231.4(POLE):c.141del (p.Phe48fs)
|
rs761329565
|
|
NM_006231.4(POLE):c.1443G>A (p.Leu481=)
|
rs1593072246
|
|
NM_006231.4(POLE):c.1446C>T (p.Cys482=)
|
rs1593072230
|
|
NM_006231.4(POLE):c.1452T>C (p.Ile484=)
|
rs1060504063
|
|
NM_006231.4(POLE):c.1453A>G (p.Ile485Val)
|
rs1593072187
|
|
NM_006231.4(POLE):c.1455T>G (p.Ile485Met)
|
rs878854843
|
|
NM_006231.4(POLE):c.1460T>C (p.Met487Thr)
|
rs2042969483
|
|
NM_006231.4(POLE):c.1473+19G>A
|
rs1057517628
|
|
NM_006231.4(POLE):c.1474-13G>A
|
rs1555228383
|
|
NM_006231.4(POLE):c.1519G>C (p.Val507Leu)
|
|
|
NM_006231.4(POLE):c.1523A>G (p.Gln508Arg)
|
rs1003970392
|
|
NM_006231.4(POLE):c.1545C>T (p.Ile515=)
|
rs749768300
|
|
NM_006231.4(POLE):c.1553A>G (p.Asn518Ser)
|
rs553123678
|
|
NM_006231.4(POLE):c.1557G>A (p.Lys519=)
|
rs1593071098
|
|
NM_006231.4(POLE):c.1600C>T (p.Leu534=)
|
rs1060504056
|
|
NM_006231.4(POLE):c.1662C>A (p.Ser554Arg)
|
rs752219944
|
|
NM_006231.4(POLE):c.1686+3G>A
|
rs1060500868
|
|
NM_006231.4(POLE):c.1687-13A>G
|
rs527311638
|
|
NM_006231.4(POLE):c.1708C>A (p.Leu570Met)
|
rs748807227
|
|
NM_006231.4(POLE):c.1726A>G (p.Lys576Glu)
|
rs745745342
|
|
NM_006231.4(POLE):c.1738C>T (p.His580Tyr)
|
rs371149234
|
|
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly)
|
rs753890723
|
|
NM_006231.4(POLE):c.1756G>A (p.Glu586Lys)
|
rs878854845
|
|
NM_006231.4(POLE):c.1770G>A (p.Val590=)
|
rs1060504050
|
|
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)
|
rs574033788
|
|
NM_006231.4(POLE):c.1795-4G>A
|
rs1593793530
|
|
NM_006231.4(POLE):c.1909A>G (p.Thr637Ala)
|
rs2135979008
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
NM_006231.4(POLE):c.1946C>A (p.Ala649Asp)
|
rs2042854832
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2026+14G>T
|
rs751509566
|
|
NM_006231.4(POLE):c.2026A>G (p.Met676Val)
|
rs1447713785
|
|
NM_006231.4(POLE):c.2027-16A>G
|
rs1057517614
|
|
NM_006231.4(POLE):c.205-9C>G
|
rs1565981102
|
|
NM_006231.4(POLE):c.2055G>T (p.Arg685=)
|
rs1593792040
|
|
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)
|
rs5744799
|
|
NM_006231.4(POLE):c.2085C>G (p.Phe695Leu)
|
|
|
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr)
|
rs5744800
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>A (p.Pro697His)
|
rs36120395
|
|
NM_006231.4(POLE):c.2091dup (p.Phe699fs)
|
rs752846614
|
|
NM_006231.4(POLE):c.2114G>C (p.Arg705Pro)
|
rs773738016
|
|
NM_006231.4(POLE):c.2118C>T (p.Ala706=)
|
rs1555227247
|
|
NM_006231.4(POLE):c.2133C>G (p.Ser711=)
|
rs1368511972
|
|
NM_006231.4(POLE):c.2154del (p.Lys717_Tyr718insTer)
|
|
|
NM_006231.4(POLE):c.2173+7G>A
|
rs1300924389
|
|
NM_006231.4(POLE):c.2174-12C>G
|
rs192222479
|
|
NM_006231.4(POLE):c.2176T>G (p.Tyr726Asp)
|
|
|
NM_006231.4(POLE):c.2218G>A (p.Glu740Lys)
|
rs1331682009
|
|
NM_006231.4(POLE):c.2236A>G (p.Ile746Val)
|
rs1480527153
|
|
NM_006231.4(POLE):c.224A>G (p.Asp75Gly)
|
rs2043147716
|
|
NM_006231.4(POLE):c.2253C>G (p.Asn751Lys)
|
rs1239144686
|
|
NM_006231.4(POLE):c.2277T>A (p.Arg759=)
|
rs1054141976
|
|
NM_006231.4(POLE):c.2301G>A (p.Glu767=)
|
rs1593789862
|
|
NM_006231.4(POLE):c.230G>A (p.Arg77His)
|
rs774404704
|
|
NM_006231.4(POLE):c.2320-19A>G
|
|
|
NM_006231.4(POLE):c.2320-7T>C
|
rs1593785806
|
|
NM_006231.4(POLE):c.2320-9G>T
|
rs769834031
|
|
NM_006231.4(POLE):c.2340G>C (p.Ser780=)
|
rs5744822
|
|
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del)
|
rs1064796065
|
|
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn)
|
rs878854851
|
|
NM_006231.4(POLE):c.2373G>A (p.Val791=)
|
rs910638587
|
|
NM_006231.4(POLE):c.238A>G (p.Ser80Gly)
|
|
|
NM_006231.4(POLE):c.2433C>T (p.Ile811=)
|
rs1256279930
|
|
NM_006231.4(POLE):c.2468+1G>T
|
|
|
NM_006231.4(POLE):c.2468+2dup
|
rs1555226665
|
|
NM_006231.4(POLE):c.2484C>T (p.Ser828=)
|
rs1060504053
|
|
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser)
|
rs2042746339
|
|
NM_006231.4(POLE):c.2532C>A (p.Thr844=)
|
rs1060504073
|
|
NM_006231.4(POLE):c.2544G>C (p.Glu848Asp)
|
rs374905660
|
|
NM_006231.4(POLE):c.254A>G (p.Tyr85Cys)
|
rs1565981016
|
|
NM_006231.4(POLE):c.2562-7T>C
|
rs2135957248
|
|
NM_006231.4(POLE):c.2562-9T>C
|
rs757405283
|
|
NM_006231.4(POLE):c.2679A>C (p.Pro893=)
|
rs1060504043
|
|
NM_006231.4(POLE):c.2687T>C (p.Met896Thr)
|
rs1385034253
|
|
NM_006231.4(POLE):c.2703C>G (p.Val901=)
|
rs1555226414
|
|
NM_006231.4(POLE):c.2711G>T (p.Gly904Val)
|
rs1332965505
|
|
NM_006231.4(POLE):c.2753C>A (p.Ser918Ter)
|
|
|
NM_006231.4(POLE):c.2770C>A (p.Arg924Ser)
|
rs369751686
|
|
NM_006231.4(POLE):c.2783G>C (p.Ser928Thr)
|
rs2042683635
|
|
NM_006231.4(POLE):c.2811C>T (p.Tyr937=)
|
rs1593777350
|
|
NM_006231.4(POLE):c.286-4del
|
rs1555230256
|
|
NM_006231.4(POLE):c.2863A>G (p.Arg955Gly)
|
rs2042681407
|
|
NM_006231.4(POLE):c.2865-17_2865-14dup
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-3C>T
|
rs1203095918
|
|
NM_006231.4(POLE):c.2865-3_2865del
|
rs1593776411
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe)
|
rs1593776406
|
|
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs)
|
rs1593776393
|
|
NM_006231.4(POLE):c.2872G>T (p.Val958Leu)
|
rs1443635519
|
|
NM_006231.4(POLE):c.2925C>T (p.Arg975=)
|
rs1593776193
|
|
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)
|
rs1555225958
|
|
NM_006231.4(POLE):c.2932dup (p.Glu978fs)
|
rs1032311596
|
|
NM_006231.4(POLE):c.2949G>A (p.Lys983=)
|
rs1213321495
|
|
NM_006231.4(POLE):c.2T>G (p.Met1Arg)
|
rs879254126
|
|
NM_006231.4(POLE):c.3012C>T (p.Gly1004=)
|
rs999632406
|
|
NM_006231.4(POLE):c.3045C>A (p.Asp1015Glu)
|
rs753809068
|
|
NM_006231.4(POLE):c.3060G>A (p.Lys1020=)
|
rs878854858
|
|
NM_006231.4(POLE):c.3061-6C>T
|
rs896731025
|
|
NM_006231.4(POLE):c.3061-9T>C
|
rs878854859
|
|
NM_006231.4(POLE):c.3072G>T (p.Met1024Ile)
|
rs1060500791
|
|
NM_006231.4(POLE):c.3107A>T (p.Asn1036Ile)
|
rs2138678125
|
|
NM_006231.4(POLE):c.3124A>G (p.Lys1042Glu)
|
rs2042630923
|
|
NM_006231.4(POLE):c.3129G>A (p.Leu1043=)
|
rs1384907122
|
|
NM_006231.4(POLE):c.3201G>A (p.Gln1067=)
|
rs1305473259
|
|
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu)
|
rs201744227
|
|
NM_006231.4(POLE):c.3252C>G (p.Pro1084=)
|
rs556962209
|
|
NM_006231.4(POLE):c.3265G>C (p.Val1089Leu)
|
|
|
NM_006231.4(POLE):c.3275+12_3275+37dup
|
rs1057517627
|
|
NM_006231.4(POLE):c.3275+14C>G
|
rs368185422
|
|
NM_006231.4(POLE):c.3275+38_3275+88del
|
rs1565955594
|
|
NM_006231.4(POLE):c.3276-5C>T
|
rs1293099867
|
|
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter)
|
rs1461016090
|
|
NM_006231.4(POLE):c.3374G>A (p.Arg1125Gln)
|
rs1565953956
|
|
NM_006231.4(POLE):c.3379-6A>G
|
rs754281673
|
|
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly)
|
rs2042569982
|
|
NM_006231.4(POLE):c.339G>A (p.Glu113=)
|
rs1593086051
|
|
NM_006231.4(POLE):c.3437C>G (p.Thr1146Ser)
|
rs1555225192
|
|
NM_006231.4(POLE):c.3459+2T>C
|
rs1057517634
|
|
NM_006231.4(POLE):c.3494A>C (p.Asp1165Ala)
|
|
|
NM_006231.4(POLE):c.351A>C (p.Ser117=)
|
rs199773841
|
|
NM_006231.4(POLE):c.3537G>A (p.Lys1179=)
|
rs1593765883
|
|
NM_006231.4(POLE):c.3566T>A (p.Leu1189Gln)
|
|
|
NM_006231.4(POLE):c.3582+34G>A
|
rs753702996
|
|
NM_006231.4(POLE):c.3583_4150-1613del
|
|
|
NM_006231.4(POLE):c.3589_3590insGGTC (p.Met1197fs)
|
rs2138615789
|
|
NM_006231.4(POLE):c.3590T>G (p.Met1197Arg)
|
|
|
NM_006231.4(POLE):c.3590delinsGGTCTGA (p.Met1197delinsArgSerGlu)
|
rs1555224131
|
|
NM_006231.4(POLE):c.3608A>T (p.Asp1203Val)
|
rs2042383988
|
|
NM_006231.4(POLE):c.3629C>T (p.Pro1210Leu)
|
rs1593751410
|
|
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer)
|
rs1555224111
|
|
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup)
|
rs750939989
|
|
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala)
|
rs1025864203
|
|
NM_006231.4(POLE):c.3858_3881del (p.Ala1288_Leu1295del)
|
rs759449495
|
|
NM_006231.4(POLE):c.387A>G (p.Ala129=)
|
rs1593085927
|
|
NM_006231.4(POLE):c.3904C>T (p.Leu1302Phe)
|
rs1555223949
|
|
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro)
|
rs766058852
|
|
NM_006231.4(POLE):c.3927T>A (p.Asp1309Glu)
|
|
|
NM_006231.4(POLE):c.3999T>C (p.Ile1333=)
|
rs929039052
|
|
NM_006231.4(POLE):c.4006-1G>T
|
rs1057519256
|
|
NM_006231.4(POLE):c.4017C>T (p.Thr1339=)
|
rs1276906694
|
|
NM_006231.4(POLE):c.4066C>G (p.His1356Asp)
|
rs557732922
|
|
NM_006231.4(POLE):c.407A>T (p.Lys136Ile)
|
rs752771738
|
|
NM_006231.4(POLE):c.4102G>C (p.Val1368Leu)
|
rs770558983
|
|
NM_006231.4(POLE):c.412G>C (p.Asp138His)
|
rs1593085858
|
|
NM_006231.4(POLE):c.4150-12T>C
|
rs551697046
|
|
NM_006231.4(POLE):c.4157G>C (p.Arg1386Pro)
|
rs969355093
|
|
NM_006231.4(POLE):c.4158G>A (p.Arg1386=)
|
rs1473134331
|
|
NM_006231.4(POLE):c.4188_4192del (p.Asn1396fs)
|
rs2042216340
|
|
NM_006231.4(POLE):c.4188_4195delinsA (p.Asn1396fs)
|
rs1555223097
|
|
NM_006231.4(POLE):c.4209A>G (p.Pro1403=)
|
rs768182675
|
|
NM_006231.4(POLE):c.4215C>T (p.Asp1405=)
|
rs1593736196
|
|
NM_006231.4(POLE):c.4217T>G (p.Met1406Arg)
|
rs749250454
|
|
NM_006231.4(POLE):c.4227A>G (p.Glu1409=)
|
rs1593736110
|
|
NM_006231.4(POLE):c.423+2_423+4delinsAGT
|
rs2043133267
|
|
NM_006231.4(POLE):c.424-7A>G
|
rs1593085377
|
|
NM_006231.4(POLE):c.424-8C>T
|
rs1593085383
|
|
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser)
|
rs748378612
|
|
NM_006231.4(POLE):c.4265A>G (p.Asp1422Gly)
|
rs2138558884
|
|
NM_006231.4(POLE):c.4287T>C (p.Thr1429=)
|
rs1060504044
|
|
NM_006231.4(POLE):c.4295C>A (p.Pro1432Gln)
|
rs371712284
|
|
NM_006231.4(POLE):c.4299A>G (p.Leu1433=)
|
rs758173240
|
|
NM_006231.4(POLE):c.4331T>C (p.Val1444Ala)
|
rs767189495
|
|
NM_006231.4(POLE):c.4370G>A (p.Gly1457Asp)
|
rs776534749
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
NM_006231.4(POLE):c.4419G>T (p.Leu1473=)
|
rs1555222975
|
|
NM_006231.4(POLE):c.448C>T (p.Arg150Ter)
|
rs775815329
|
|
NM_006231.4(POLE):c.4495C>A (p.Leu1499Ile)
|
rs1555222907
|
|
NM_006231.4(POLE):c.4515C>A (p.Pro1505=)
|
rs1593733664
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
NM_006231.4(POLE):c.4558A>G (p.Ser1520Gly)
|
rs1021500357
|
|
NM_006231.4(POLE):c.4585C>G (p.Leu1529Val)
|
rs1060504041
|
|
NM_006231.4(POLE):c.4593A>T (p.Ser1531=)
|
rs878854875
|
|
NM_006231.4(POLE):c.4611C>T (p.Leu1537=)
|
rs1593732539
|
|
NM_006231.4(POLE):c.4629T>C (p.Pro1543=)
|
rs1593732457
|
|
NM_006231.4(POLE):c.4631dup (p.Leu1545fs)
|
rs1555222731
|
|
NM_006231.4(POLE):c.4636C>T (p.Leu1546=)
|
rs1593732411
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.4650A>G (p.Lys1550=)
|
rs2042183278
|
|
NM_006231.4(POLE):c.4651C>T (p.His1551Tyr)
|
rs750079093
|
|
NM_006231.4(POLE):c.4666C>G (p.Arg1556Gly)
|
rs768741587
|
|
NM_006231.4(POLE):c.4722C>T (p.Ala1574=)
|
rs1593731949
|
|
NM_006231.4(POLE):c.4728+14_4728+21del
|
rs1311664292
|
|
NM_006231.4(POLE):c.4729-16dup
|
rs1057517615
|
|
NM_006231.4(POLE):c.4762C>G (p.Gln1588Glu)
|
|
|
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg)
|
rs776538943
|
|
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg)
|
rs1255478620
|
|
NM_006231.4(POLE):c.484G>C (p.Asp162His)
|
rs759492756
|
|
NM_006231.4(POLE):c.4927C>T (p.Leu1643=)
|
rs1418072475
|
|
NM_006231.4(POLE):c.4952+13C>T
|
rs1057517612
|
|
NM_006231.4(POLE):c.4952+17_4952+19dup
|
rs571641918
|
|
NM_006231.4(POLE):c.4952+20_4952+22del
|
rs752389775
|
|
NM_006231.4(POLE):c.4953-5T>C
|
rs757060708
|
|
NM_006231.4(POLE):c.4956C>T (p.Tyr1652=)
|
rs1468753963
|
|
NM_006231.4(POLE):c.4989C>T (p.Asp1663=)
|
rs1593730013
|
|
NM_006231.4(POLE):c.5011C>T (p.Leu1671Phe)
|
rs2042164674
|
|
NM_006231.4(POLE):c.5013C>T (p.Leu1671=)
|
rs1260912213
|
|
NM_006231.4(POLE):c.507G>A (p.Glu169=)
|
rs1555230086
|
|
NM_006231.4(POLE):c.5108G>C (p.Cys1703Ser)
|
rs961736994
|
|
NM_006231.4(POLE):c.5151del (p.Asn1717fs)
|
rs1565936691
|
|
NM_006231.4(POLE):c.5174-7T>C
|
rs1593728393
|
|
NM_006231.4(POLE):c.5179G>T (p.Val1727Leu)
|
rs2042151724
|
|
NM_006231.4(POLE):c.5194C>G (p.Gln1732Glu)
|
rs2042151210
|
|
NM_006231.4(POLE):c.522GAA[2] (p.Lys176del)
|
rs1060500793
|
|
NM_006231.4(POLE):c.5233G>A (p.Val1745Ile)
|
rs1593728098
|
|
NM_006231.4(POLE):c.5247G>A (p.Glu1749=)
|
rs753472248
|
|
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg)
|
rs1565935906
|
|
NM_006231.4(POLE):c.532A>G (p.Arg178Gly)
|
rs2043122950
|
|
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val)
|
rs2138523727
|
|
NM_006231.4(POLE):c.5337G>T (p.Pro1779=)
|
rs749991080
|
|
NM_006231.4(POLE):c.5378+9C>G
|
rs1177871620
|
|
NM_006231.4(POLE):c.5398G>T (p.Val1800Leu)
|
rs199777048
|
|
NM_006231.4(POLE):c.5432A>G (p.Asn1811Ser)
|
rs1565933181
|
|
NM_006231.4(POLE):c.5437T>C (p.Tyr1813His)
|
rs1180742425
|
|
NM_006231.4(POLE):c.5465A>G (p.Tyr1822Cys)
|
rs1002181208
|
|
NM_006231.4(POLE):c.5484A>T (p.Pro1828=)
|
rs770297218
|
|
NM_006231.4(POLE):c.5514C>T (p.His1838=)
|
rs936176137
|
|
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)
|
rs868246375
|
|
NM_006231.4(POLE):c.5549T>A (p.Leu1850Gln)
|
rs1565932919
|
|
NM_006231.4(POLE):c.5553-10T>C
|
rs1593719981
|
|
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr)
|
rs1057519257
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006231.4(POLE):c.558G>T (p.Ala186=)
|
rs764758303
|
|
NM_006231.4(POLE):c.5598C>T (p.Ala1866=)
|
rs1555221772
|
|
NM_006231.4(POLE):c.5619C>A (p.Leu1873=)
|
rs1060504071
|
|
NM_006231.4(POLE):c.5626A>G (p.Lys1876Glu)
|
|
|
NM_006231.4(POLE):c.5679-14T>C
|
rs1555221517
|
|
NM_006231.4(POLE):c.5679-3C>T
|
rs1555221512
|
|
NM_006231.4(POLE):c.5722T>A (p.Ser1908Thr)
|
rs2042024407
|
|
NM_006231.4(POLE):c.5779G>C (p.Gly1927Arg)
|
rs2138485262
|
|
NM_006231.4(POLE):c.579-1G>C
|
|
|
NM_006231.4(POLE):c.579-5C>T
|
rs1417046088
|
|
NM_006231.4(POLE):c.5809C>T (p.Leu1937=)
|
rs1555221482
|
|
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del)
|
rs757774039
|
|
NM_006231.4(POLE):c.5943C>T (p.Asn1981=)
|
rs1593711979
|
|
NM_006231.4(POLE):c.5949G>T (p.Leu1983Phe)
|
rs2041990225
|
|
NM_006231.4(POLE):c.5965del (p.Ala1989fs)
|
rs1555221193
|
|
NM_006231.4(POLE):c.5995A>G (p.Ile1999Val)
|
rs2041988946
|
|
NM_006231.4(POLE):c.6090C>T (p.Ala2030=)
|
rs1593708887
|
|
NM_006231.4(POLE):c.60C>G (p.Ser20Arg)
|
rs770124075
|
|
NM_006231.4(POLE):c.6137-50C>T
|
rs779908266
|
|
NM_006231.4(POLE):c.6137-9T>C
|
rs1593708268
|
|
NM_006231.4(POLE):c.6142A>T (p.Ile2048Phe)
|
rs2138461658
|
|
NM_006231.4(POLE):c.62+1G>C
|
rs1565986506
|
|
NM_006231.4(POLE):c.62+9C>T
|
rs878854890
|
|
NM_006231.4(POLE):c.6200C>T (p.Thr2067Ile)
|
|
|
NM_006231.4(POLE):c.6207G>T (p.Lys2069Asn)
|
rs1593708047
|
|
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs)
|
rs765923256
|
|
NM_006231.4(POLE):c.6247C>T (p.Leu2083Phe)
|
rs1022668614
|
|
NM_006231.4(POLE):c.6252del (p.Glu2085fs)
|
rs2138460253
|
|
NM_006231.4(POLE):c.63-10T>C
|
rs1593088397
|
|
NM_006231.4(POLE):c.6303C>A (p.Ala2101=)
|
rs751217923
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
NM_006231.4(POLE):c.6351C>T (p.Asn2117=)
|
rs1555301264
|
|
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter)
|
rs1057517583
|
|
NM_006231.4(POLE):c.6411G>A (p.Glu2137=)
|
rs753344188
|
|
NM_006231.4(POLE):c.6435A>G (p.Arg2145=)
|
rs1593697593
|
|
NM_006231.4(POLE):c.6492C>T (p.Cys2164=)
|
rs1593697384
|
|
NM_006231.4(POLE):c.6496G>A (p.Asp2166Asn)
|
rs759795841
|
|
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)
|
rs774417192
|
|
NM_006231.4(POLE):c.6531+5G>T
|
rs368538240
|
|
NM_006231.4(POLE):c.6532-10C>G
|
rs774636433
|
|
NM_006231.4(POLE):c.6532-21_6532-20del
|
rs1555301127
|
|
NM_006231.4(POLE):c.6532-6G>A
|
rs1593696621
|
|
NM_006231.4(POLE):c.654T>A (p.Ile218=)
|
rs1555229709
|
|
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del)
|
rs1188033351
|
|
NM_006231.4(POLE):c.6658-12G>C
|
rs1555300850
|
|
NM_006231.4(POLE):c.6658-19C>G
|
rs5745081
|
|
NM_006231.4(POLE):c.6658-1G>A
|
rs1555300846
|
|
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)
|
rs878854896
|
|
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln)
|
rs376140352
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
NM_006231.4(POLE):c.6768A>C (p.Gly2256=)
|
rs1593693557
|
|
NM_006231.4(POLE):c.6777G>C (p.Arg2259=)
|
rs540203276
|
|
NM_006231.4(POLE):c.6786C>T (p.Ala2262=)
|
rs1593693506
|
|
NM_006231.4(POLE):c.680C>T (p.Pro227Leu)
|
rs1060500784
|
|
NM_006231.4(POLE):c.6839A>G (p.Lys2280Arg)
|
rs2138421700
|
|
NM_006231.4(POLE):c.696C>T (p.Leu232=)
|
rs1593081708
|
|
NM_006231.4(POLE):c.721-13GT[2]
|
rs752682384
|
|
NM_006231.4(POLE):c.727T>G (p.Trp243Gly)
|
rs2136018853
|
|
NM_006231.4(POLE):c.778C>T (p.Arg260Ter)
|
rs747946229
|
|
NM_006231.4(POLE):c.797G>A (p.Arg266Gln)
|
rs115786159
|
|
NM_006231.4(POLE):c.7C>G (p.Leu3Val)
|
rs1018143132
|
|
NM_006231.4(POLE):c.802-1G>C
|
rs1555229470
|
|
NM_006231.4(POLE):c.802-6C>T
|
rs754779082
|
|
NM_006231.4(POLE):c.810G>A (p.Val270=)
|
rs973650664
|
|
NM_006231.4(POLE):c.824A>G (p.Asp275Gly)
|
rs1565976801
|
|
NM_006231.4(POLE):c.825C>G (p.Asp275Glu)
|
rs1483809345
|
|
NM_006231.4(POLE):c.826A>G (p.Ile276Val)
|
rs1280169933
|
|
NM_006231.4(POLE):c.840A>C (p.Lys280Asn)
|
rs908089476
|
|
NM_006231.4(POLE):c.883A>G (p.Met295Val)
|
|
|
NM_006231.4(POLE):c.887T>C (p.Ile296Thr)
|
|
|
NM_006231.4(POLE):c.90G>T (p.Ser30=)
|
rs369224511
|
|
NM_006231.4(POLE):c.910-8T>C
|
rs1593078633
|
|
NM_006231.4(POLE):c.916C>T (p.Leu306Phe)
|
rs1343048638
|
|
NM_006231.4(POLE):c.923C>T (p.Thr308Ile)
|
|
|
NM_006231.4(POLE):c.936T>G (p.Ile312Met)
|
rs1555229316
|
|
NM_006231.4(POLE):c.950T>C (p.Ile317Thr)
|
rs1060500783
|
|
NM_006231.4(POLE):c.95T>C (p.Leu32Pro)
|
rs878854900
|
|
NM_006231.4(POLE):c.983A>T (p.Tyr328Phe)
|
rs1339375099
|
|
NM_006231.4(POLE):c.99G>A (p.Lys33=)
|
rs1270401168
|
|