NM_002692.4(POLE2):c.823C>A (p.Leu275Ile)
|
rs141483427
|
0.00041
|
NM_002692.4(POLE2):c.1489A>G (p.Ile497Val)
|
rs142322471
|
0.00026
|
NM_002692.4(POLE2):c.929-3T>C
|
rs372605618
|
0.00022
|
NM_002692.4(POLE2):c.1049G>A (p.Cys350Tyr)
|
rs201728008
|
0.00016
|
NM_002692.4(POLE2):c.245+15T>G
|
rs773318425
|
0.00006
|
NM_002692.4(POLE2):c.542C>T (p.Ala181Val)
|
rs755132837
|
0.00005
|
NM_002692.4(POLE2):c.1251A>C (p.Glu417Asp)
|
rs774466948
|
0.00004
|
NM_002692.4(POLE2):c.196G>A (p.Val66Met)
|
rs368181624
|
0.00004
|
NM_002692.4(POLE2):c.252C>A (p.His84Gln)
|
rs757794783
|
0.00003
|
NM_002692.4(POLE2):c.420G>C (p.Arg140Ser)
|
rs372857838
|
0.00003
|
NM_002692.4(POLE2):c.50G>C (p.Arg17Pro)
|
rs865807175
|
0.00003
|
NM_002692.4(POLE2):c.1133+5G>A
|
rs892587226
|
0.00002
|
NM_002692.4(POLE2):c.187G>A (p.Glu63Lys)
|
rs55817802
|
0.00002
|
NM_002692.4(POLE2):c.482G>A (p.Ser161Asn)
|
rs774521998
|
0.00002
|
NM_002692.4(POLE2):c.576+9A>G
|
rs759716369
|
0.00002
|
NM_002692.4(POLE2):c.647G>C (p.Gly216Ala)
|
rs920066811
|
0.00002
|
NM_002692.4(POLE2):c.856A>G (p.Met286Val)
|
rs368277605
|
0.00002
|
NM_002692.4(POLE2):c.100C>G (p.Gln34Glu)
|
rs755865309
|
0.00001
|
NM_002692.4(POLE2):c.1400A>G (p.Tyr467Cys)
|
rs539010611
|
0.00001
|
NM_002692.4(POLE2):c.1407G>C (p.Leu469Phe)
|
rs762379944
|
0.00001
|
NM_002692.4(POLE2):c.1499G>A (p.Gly500Asp)
|
rs763742302
|
0.00001
|
NM_002692.4(POLE2):c.190C>T (p.Arg64Ter)
|
rs765702439
|
0.00001
|
NM_002692.4(POLE2):c.191G>A (p.Arg64Gln)
|
rs537941310
|
0.00001
|
NM_002692.4(POLE2):c.245T>C (p.Ile82Thr)
|
rs1437724514
|
0.00001
|
NM_002692.4(POLE2):c.253G>A (p.Val85Ile)
|
rs751563432
|
0.00001
|
NM_002692.4(POLE2):c.28G>T (p.Ala10Ser)
|
rs1297842797
|
0.00001
|
NM_002692.4(POLE2):c.349C>A (p.Pro117Thr)
|
rs766688419
|
0.00001
|
NM_002692.4(POLE2):c.385A>T (p.Met129Leu)
|
rs759022429
|
0.00001
|
NM_002692.4(POLE2):c.391C>T (p.Arg131Cys)
|
rs371966509
|
0.00001
|
NM_002692.4(POLE2):c.535G>A (p.Gly179Arg)
|
rs767851728
|
0.00001
|
NM_002692.4(POLE2):c.53G>A (p.Gly18Asp)
|
rs902923829
|
0.00001
|
NM_002692.4(POLE2):c.640C>T (p.His214Tyr)
|
rs931586213
|
0.00001
|
NM_002692.4(POLE2):c.914G>A (p.Arg305His)
|
rs767820176
|
0.00001
|
NC_000014.8:g.(?_50110370)_(50154921_?)dup
|
|
|
NC_000014.8:g.(?_50130013)_(50154921_?)dup
|
|
|
NC_000014.8:g.(?_50131805)_(50133151_?)del
|
|
|
NC_000014.8:g.(?_50140821)_(50154921_?)dup
|
|
|
NC_000014.8:g.(?_50154834)_(50154921_?)dup
|
|
|
NM_002692.4(POLE2):c.1001A>C (p.Gln334Pro)
|
|
|
NM_002692.4(POLE2):c.1006C>A (p.Gln336Lys)
|
|
|
NM_002692.4(POLE2):c.1028A>G (p.Lys343Arg)
|
|
|
NM_002692.4(POLE2):c.1029A>C (p.Lys343Asn)
|
|
|
NM_002692.4(POLE2):c.1034T>A (p.Leu345Ter)
|
rs368223418
|
|
NM_002692.4(POLE2):c.1034T>C (p.Leu345Ser)
|
|
|
NM_002692.4(POLE2):c.1038del (p.Asp347fs)
|
rs2139622574
|
|
NM_002692.4(POLE2):c.1060G>C (p.Asp354His)
|
rs1483360766
|
|
NM_002692.4(POLE2):c.1064T>C (p.Ile355Thr)
|
|
|
NM_002692.4(POLE2):c.106A>G (p.Ile36Val)
|
|
|
NM_002692.4(POLE2):c.1074-1G>T
|
rs368577291
|
|
NM_002692.4(POLE2):c.1079G>A (p.Arg360His)
|
|
|
NM_002692.4(POLE2):c.1093C>T (p.Pro365Ser)
|
rs750849311
|
|
NM_002692.4(POLE2):c.1099C>T (p.Pro367Ser)
|
rs2139621096
|
|
NM_002692.4(POLE2):c.109A>G (p.Ser37Gly)
|
|
|
NM_002692.4(POLE2):c.1133+6T>A
|
|
|
NM_002692.4(POLE2):c.1141C>G (p.Leu381Val)
|
|
|
NM_002692.4(POLE2):c.1147G>A (p.Glu383Lys)
|
rs2139620748
|
|
NM_002692.4(POLE2):c.114A>G (p.Glu38=)
|
|
|
NM_002692.4(POLE2):c.1150A>G (p.Ser384Gly)
|
|
|
NM_002692.4(POLE2):c.1165T>A (p.Phe389Ile)
|
|
|
NM_002692.4(POLE2):c.1166del (p.Phe389fs)
|
|
|
NM_002692.4(POLE2):c.1169G>A (p.Arg390Lys)
|
|
|
NM_002692.4(POLE2):c.1187_1188del (p.Ser396fs)
|
|
|
NM_002692.4(POLE2):c.118G>C (p.Glu40Gln)
|
rs759981747
|
|
NM_002692.4(POLE2):c.1208G>A (p.Cys403Tyr)
|
|
|
NM_002692.4(POLE2):c.1211G>T (p.Arg404Ile)
|
|
|
NM_002692.4(POLE2):c.1222_1226dup (p.Gln410fs)
|
|
|
NM_002692.4(POLE2):c.1223G>A (p.Cys408Tyr)
|
|
|
NM_002692.4(POLE2):c.1238C>T (p.Thr413Ile)
|
|
|
NM_002692.4(POLE2):c.1249del (p.Glu417fs)
|
|
|
NM_002692.4(POLE2):c.1267del (p.Met423fs)
|
|
|
NM_002692.4(POLE2):c.1279T>C (p.Cys427Arg)
|
rs1476086617
|
|
NM_002692.4(POLE2):c.1282G>A (p.Val428Ile)
|
|
|
NM_002692.4(POLE2):c.1286G>A (p.Arg429His)
|
|
|
NM_002692.4(POLE2):c.1320+3A>C
|
|
|
NM_002692.4(POLE2):c.1320C>A (p.His440Gln)
|
|
|
NM_002692.4(POLE2):c.1320C>T (p.His440=)
|
|
|
NM_002692.4(POLE2):c.1324G>C (p.Val442Leu)
|
|
|
NM_002692.4(POLE2):c.1340C>G (p.Ser447Cys)
|
|
|
NM_002692.4(POLE2):c.1342C>T (p.Gln448Ter)
|
|
|
NM_002692.4(POLE2):c.1348C>T (p.His450Tyr)
|
|
|
NM_002692.4(POLE2):c.1352T>C (p.Leu451Pro)
|
|
|
NM_002692.4(POLE2):c.136G>C (p.Glu46Gln)
|
|
|
NM_002692.4(POLE2):c.137A>T (p.Glu46Val)
|
|
|
NM_002692.4(POLE2):c.1400A>C (p.Tyr467Ser)
|
|
|
NM_002692.4(POLE2):c.1406dup (p.Leu469fs)
|
rs776517397
|
|
NM_002692.4(POLE2):c.1409G>C (p.Arg470Thr)
|
rs2139609142
|
|
NM_002692.4(POLE2):c.1411G>A (p.Val471Met)
|
|
|
NM_002692.4(POLE2):c.1420G>A (p.Val474Met)
|
|
|
NM_002692.4(POLE2):c.1426G>A (p.Asp476Asn)
|
|
|
NM_002692.4(POLE2):c.142A>T (p.Ile48Leu)
|
|
|
NM_002692.4(POLE2):c.1441G>A (p.Ala481Thr)
|
|
|
NM_002692.4(POLE2):c.1455T>A (p.Asp485Glu)
|
|
|
NM_002692.4(POLE2):c.1466C>A (p.Thr489Lys)
|
|
|
NM_002692.4(POLE2):c.1466C>T (p.Thr489Met)
|
|
|
NM_002692.4(POLE2):c.146T>G (p.Ile49Ser)
|
|
|
NM_002692.4(POLE2):c.1471A>C (p.Asn491His)
|
|
|
NM_002692.4(POLE2):c.1471A>G (p.Asn491Asp)
|
|
|
NM_002692.4(POLE2):c.1477G>A (p.Glu493Lys)
|
|
|
NM_002692.4(POLE2):c.148A>T (p.Asn50Tyr)
|
|
|
NM_002692.4(POLE2):c.1498-3A>G
|
|
|
NM_002692.4(POLE2):c.14G>A (p.Arg5Gln)
|
|
|
NM_002692.4(POLE2):c.14G>C (p.Arg5Pro)
|
rs1887311329
|
|
NM_002692.4(POLE2):c.1502C>G (p.Ser501Cys)
|
rs1450202054
|
|
NM_002692.4(POLE2):c.1508C>T (p.Pro503Leu)
|
|
|
NM_002692.4(POLE2):c.1517del (p.Gly506fs)
|
rs748565137
|
|
NM_002692.4(POLE2):c.1519T>C (p.Phe507Leu)
|
|
|
NM_002692.4(POLE2):c.1529_1530del (p.Lys510fs)
|
rs781382506
|
|
NM_002692.4(POLE2):c.1540C>T (p.Pro514Ser)
|
|
|
NM_002692.4(POLE2):c.1551G>C (p.Lys517Asn)
|
|
|
NM_002692.4(POLE2):c.1553C>T (p.Thr518Ile)
|
|
|
NM_002692.4(POLE2):c.1566-3del
|
|
|
NM_002692.4(POLE2):c.1566-5T>A
|
|
|
NM_002692.4(POLE2):c.16C>A (p.Leu6Met)
|
|
|
NM_002692.4(POLE2):c.170-13A>G
|
|
|
NM_002692.4(POLE2):c.173C>G (p.Ser58Ter)
|
|
|
NM_002692.4(POLE2):c.176C>A (p.Ser59Ter)
|
|
|
NM_002692.4(POLE2):c.191G>C (p.Arg64Pro)
|
|
|
NM_002692.4(POLE2):c.191G>T (p.Arg64Leu)
|
|
|
NM_002692.4(POLE2):c.19C>G (p.Arg7Gly)
|
|
|
NM_002692.4(POLE2):c.221G>A (p.Cys74Tyr)
|
|
|
NM_002692.4(POLE2):c.232G>A (p.Val78Ile)
|
|
|
NM_002692.4(POLE2):c.23G>A (p.Ser8Asn)
|
|
|
NM_002692.4(POLE2):c.244A>G (p.Ile82Val)
|
|
|
NM_002692.4(POLE2):c.245+8G>A
|
|
|
NM_002692.4(POLE2):c.246-3C>A
|
|
|
NM_002692.4(POLE2):c.246-6T>A
|
|
|
NM_002692.4(POLE2):c.25C>G (p.Arg9Gly)
|
|
|
NM_002692.4(POLE2):c.264C>G (p.Ile88Met)
|
|
|
NM_002692.4(POLE2):c.265A>G (p.Ile89Val)
|
rs778324639
|
|
NM_002692.4(POLE2):c.26G>A (p.Arg9Gln)
|
|
|
NM_002692.4(POLE2):c.280A>G (p.Ile94Val)
|
|
|
NM_002692.4(POLE2):c.283C>G (p.Pro95Ala)
|
|
|
NM_002692.4(POLE2):c.283C>T (p.Pro95Ser)
|
|
|
NM_002692.4(POLE2):c.287G>T (p.Arg96Leu)
|
|
|
NM_002692.4(POLE2):c.315del (p.Lys105fs)
|
|
|
NM_002692.4(POLE2):c.31C>T (p.Leu11Phe)
|
|
|
NM_002692.4(POLE2):c.322C>G (p.Pro108Ala)
|
rs527664455
|
|
NM_002692.4(POLE2):c.323+4_323+7del
|
|
|
NM_002692.4(POLE2):c.323C>T (p.Pro108Leu)
|
|
|
NM_002692.4(POLE2):c.324T>G (p.Pro108=)
|
|
|
NM_002692.4(POLE2):c.331A>G (p.Met111Val)
|
|
|
NM_002692.4(POLE2):c.332_337del (p.Met111_Thr112del)
|
|
|
NM_002692.4(POLE2):c.339C>G (p.Asn113Lys)
|
rs1886089004
|
|
NM_002692.4(POLE2):c.347C>T (p.Ala116Val)
|
|
|
NM_002692.4(POLE2):c.349C>G (p.Pro117Ala)
|
|
|
NM_002692.4(POLE2):c.365C>T (p.Thr122Ile)
|
|
|
NM_002692.4(POLE2):c.392G>A (p.Arg131His)
|
|
|
NM_002692.4(POLE2):c.417+1G>T
|
|
|
NM_002692.4(POLE2):c.418-10T>C
|
|
|
NM_002692.4(POLE2):c.419G>C (p.Arg140Thr)
|
|
|
NM_002692.4(POLE2):c.434A>T (p.Glu145Val)
|
|
|
NM_002692.4(POLE2):c.443C>T (p.Thr148Ile)
|
|
|
NM_002692.4(POLE2):c.445C>T (p.Pro149Ser)
|
|
|
NM_002692.4(POLE2):c.449C>T (p.Pro150Leu)
|
|
|
NM_002692.4(POLE2):c.451G>A (p.Val151Met)
|
|
|
NM_002692.4(POLE2):c.454A>G (p.Ile152Val)
|
|
|
NM_002692.4(POLE2):c.478G>A (p.Gly160Arg)
|
|
|
NM_002692.4(POLE2):c.492+1G>A
|
|
|
NM_002692.4(POLE2):c.49C>T (p.Arg17Trp)
|
|
|
NM_002692.4(POLE2):c.505_506delinsTT (p.Glu169Leu)
|
|
|
NM_002692.4(POLE2):c.506A>G (p.Glu169Gly)
|
rs150596542
|
|
NM_002692.4(POLE2):c.506A>T (p.Glu169Val)
|
|
|
NM_002692.4(POLE2):c.509C>A (p.Thr170Asn)
|
|
|
NM_002692.4(POLE2):c.518G>A (p.Gly173Asp)
|
|
|
NM_002692.4(POLE2):c.518G>C (p.Gly173Ala)
|
|
|
NM_002692.4(POLE2):c.541G>T (p.Ala181Ser)
|
|
|
NM_002692.4(POLE2):c.544A>C (p.Ile182Leu)
|
|
|
NM_002692.4(POLE2):c.576G>A (p.Glu192=)
|
|
|
NM_002692.4(POLE2):c.578G>A (p.Gly193Glu)
|
|
|
NM_002692.4(POLE2):c.582A>C (p.Lys194Asn)
|
|
|
NM_002692.4(POLE2):c.582A>T (p.Lys194Asn)
|
|
|
NM_002692.4(POLE2):c.5C>A (p.Ala2Glu)
|
rs368608405
|
|
NM_002692.4(POLE2):c.607A>T (p.Thr203Ser)
|
|
|
NM_002692.4(POLE2):c.616C>T (p.Leu206=)
|
|
|
NM_002692.4(POLE2):c.625A>G (p.Ser209Gly)
|
|
|
NM_002692.4(POLE2):c.628A>G (p.Lys210Glu)
|
|
|
NM_002692.4(POLE2):c.637T>A (p.Phe213Ile)
|
|
|
NM_002692.4(POLE2):c.653A>G (p.Tyr218Cys)
|
|
|
NM_002692.4(POLE2):c.655A>G (p.Thr219Ala)
|
|
|
NM_002692.4(POLE2):c.674_675dup (p.Ala226Ter)
|
rs2139649210
|
|
NM_002692.4(POLE2):c.699A>G (p.Gln233=)
|
|
|
NM_002692.4(POLE2):c.705T>A (p.Phe235Leu)
|
|
|
NM_002692.4(POLE2):c.711C>T (p.Val237=)
|
|
|
NM_002692.4(POLE2):c.713A>G (p.Asn238Ser)
|
|
|
NM_002692.4(POLE2):c.716C>T (p.Ala239Val)
|
rs1029759847
|
|
NM_002692.4(POLE2):c.727C>T (p.Pro243Ser)
|
|
|
NM_002692.4(POLE2):c.738G>C (p.Glu246Asp)
|
|
|
NM_002692.4(POLE2):c.73G>A (p.Ala25Thr)
|
|
|
NM_002692.4(POLE2):c.755+3A>G
|
|
|
NM_002692.4(POLE2):c.756-15_756-11del
|
|
|
NM_002692.4(POLE2):c.756-5_756-2del
|
|
|
NM_002692.4(POLE2):c.758C>T (p.Ala253Val)
|
|
|
NM_002692.4(POLE2):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002692.4(POLE2):c.788G>C (p.Gly263Ala)
|
|
|
NM_002692.4(POLE2):c.796A>G (p.Asn266Asp)
|
|
|
NM_002692.4(POLE2):c.7C>T (p.Pro3Ser)
|
rs772722364
|
|
NM_002692.4(POLE2):c.811A>T (p.Thr271Ser)
|
|
|
NM_002692.4(POLE2):c.818C>T (p.Ala273Val)
|
rs746625112
|
|
NM_002692.4(POLE2):c.858G>T (p.Met286Ile)
|
|
|
NM_002692.4(POLE2):c.863T>C (p.Val288Ala)
|
|
|
NM_002692.4(POLE2):c.918_920del (p.Ile306del)
|
|
|
NM_002692.4(POLE2):c.932A>G (p.Tyr311Cys)
|
|
|
NM_002692.4(POLE2):c.944C>G (p.Pro315Arg)
|
|
|
NM_002692.4(POLE2):c.958A>G (p.Ile320Val)
|
|
|
NM_002692.4(POLE2):c.959T>C (p.Ile320Thr)
|
rs569827277
|
|
NM_002692.4(POLE2):c.95C>T (p.Ala32Val)
|
|
|
NM_002692.4(POLE2):c.990T>G (p.Tyr330Ter)
|
rs2139623078
|
|
NM_002692.4(POLE2):c.997A>T (p.Asn333Tyr)
|
|
|
NM_002692.4(POLE2):c.998dup (p.Asn333fs)
|
|
|