NM_005236.3(ERCC4):c.974-7G>A
|
rs254942
|
0.97995
|
NM_000124.4(ERCC6):c.1992+32A>G
|
rs4253162
|
0.85763
|
NM_000124.4(ERCC6):c.1821+7C>T
|
rs4253132
|
0.84443
|
NM_174889.4(NDUFAF2):c.-97A>G
|
rs158922
|
0.66969
|
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)
|
rs158921
|
0.63042
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.62551
|
NM_000082.4(ERCC8):c.*105T>C
|
rs3117
|
0.36900
|
NM_000124.4(ERCC6):c.*379C>G
|
rs4253234
|
0.31692
|
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)
|
rs2229760
|
0.31596
|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
|
rs1799801
|
0.24619
|
NM_005236.3(ERCC4):c.207+11G>A
|
rs762521
|
0.22979
|
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=)
|
rs4647100
|
0.19656
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
NM_000124.4(ERCC6):c.2382+33T>C
|
rs3750749
|
0.10128
|
NM_000124.4(ERCC6):c.*1830T>C
|
rs11101137
|
0.09932
|
NM_000124.4(ERCC6):c.*3823T>C
|
rs73297748
|
0.09918
|
NM_000124.4(ERCC6):c.*53T>C
|
rs4253231
|
0.09905
|
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)
|
rs4253013
|
0.09896
|
NM_000082.4(ERCC8):c.*439G>T
|
rs4647155
|
0.09291
|
NM_000124.4(ERCC6):c.*933G>A
|
rs3750751
|
0.07801
|
NM_000124.4(ERCC6):c.*1964_*1966del
|
rs147228327
|
0.06626
|
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)
|
rs2020955
|
0.06391
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
NM_000082.4(ERCC8):c.*519C>A
|
rs4647157
|
0.05096
|
NM_000124.4(ERCC6):c.-78G>T
|
rs4253005
|
0.04162
|
NM_000082.4(ERCC8):c.173+1158A>G
|
rs4647068
|
0.02409
|
NM_000082.4(ERCC8):c.-23T>G
|
rs4647038
|
0.02401
|
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile)
|
rs4253230
|
0.02217
|
NM_000082.4(ERCC8):c.*458T>C
|
rs4647156
|
0.01803
|
NM_000082.4(ERCC8):c.*36C>T
|
rs4647152
|
0.01630
|
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)
|
rs2228525
|
0.01573
|
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)
|
rs4253027
|
0.01480
|
NM_000124.4(ERCC6):c.*1327G>A
|
rs117289374
|
0.01454
|
NM_005236.3(ERCC4):c.33C>T (p.Ala11=)
|
rs3136042
|
0.01420
|
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)
|
rs2020958
|
0.01408
|
NM_000124.4(ERCC6):c.*2137A>G
|
rs114723899
|
0.01395
|
NM_000082.4(ERCC8):c.363T>C (p.Asp121=)
|
rs4647088
|
0.01289
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_000082.4(ERCC8):c.*237T>C
|
rs4647153
|
0.01170
|
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=)
|
rs4253207
|
0.01168
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
|
rs4253047
|
0.01008
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)
|
rs2229761
|
0.00814
|
NM_000124.4(ERCC6):c.*3395A>C
|
rs142122327
|
0.00812
|
NM_000082.3(ERCC8):c.-133C>G
|
rs4647037
|
0.00723
|
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)
|
rs2020953
|
0.00706
|
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=)
|
rs4253045
|
0.00681
|
NM_000124.4(ERCC6):c.*1872C>T
|
rs115281814
|
0.00673
|
NM_000082.4(ERCC8):c.504A>G (p.Val168=)
|
rs35366433
|
0.00639
|
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)
|
rs2020957
|
0.00625
|
NM_000124.4(ERCC6):c.*1981dup
|
rs557832376
|
0.00515
|
NM_000124.4(ERCC6):c.*2680A>C
|
rs35471849
|
0.00511
|
NM_000124.4(ERCC6):c.*2155T>C
|
rs114183603
|
0.00503
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)
|
rs2274097
|
0.00466
|
NM_000124.4(ERCC6):c.*1275C>G
|
rs182177140
|
0.00456
|
NM_000124.4(ERCC6):c.*2766T>G
|
rs141121035
|
0.00448
|
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)
|
rs114077770
|
0.00403
|
NM_000124.4(ERCC6):c.*3921A>G
|
rs533984667
|
0.00364
|
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg)
|
rs4253227
|
0.00363
|
NM_000124.4(ERCC6):c.*2602A>G
|
rs41281953
|
0.00319
|
NM_000124.4(ERCC6):c.*3280A>G
|
rs146690522
|
0.00291
|
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)
|
rs3136225
|
0.00290
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)
|
rs114896216
|
0.00234
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_000124.4(ERCC6):c.*2729G>A
|
rs535616736
|
0.00214
|
NM_000124.4(ERCC6):c.*118A>C
|
rs4253233
|
0.00201
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)
|
rs61754098
|
0.00199
|
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg)
|
rs142094044
|
0.00191
|
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr)
|
rs148636026
|
0.00191
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
NM_000124.4(ERCC6):c.-22G>A
|
rs4253006
|
0.00181
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_000124.4(ERCC6):c.*3684A>G
|
rs570822434
|
0.00147
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00127
|
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=)
|
rs4647130
|
0.00120
|
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=)
|
rs144608959
|
0.00118
|
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)
|
rs148366188
|
0.00108
|
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)
|
rs148791570
|
0.00107
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_005236.3(ERCC4):c.974-6T>C
|
rs201181735
|
0.00091
|
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)
|
rs149130938
|
0.00090
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)
|
rs146043988
|
0.00083
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)
|
rs148295935
|
0.00081
|
NM_000124.4(ERCC6):c.*813C>T
|
rs181327678
|
0.00077
|
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)
|
rs190863815
|
0.00075
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)
|
rs141391984
|
0.00070
|
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)
|
rs149927607
|
0.00070
|
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)
|
rs141845482
|
0.00063
|
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)
|
rs147079519
|
0.00063
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)
|
rs139406689
|
0.00060
|
NM_000124.4(ERCC6):c.*1112G>A
|
rs186262133
|
0.00056
|
NM_000124.4(ERCC6):c.1992+7C>T
|
rs373710355
|
0.00056
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_000124.4(ERCC6):c.*1933A>G
|
rs748783305
|
0.00054
|
NM_000124.4(ERCC6):c.*4019A>G
|
rs569564278
|
0.00052
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
NM_000124.4(ERCC6):c.-15+11G>A
|
rs766986601
|
0.00050
|
NM_000124.4(ERCC6):c.*1279T>A
|
rs189942338
|
0.00048
|
NM_000124.4(ERCC6):c.*1314G>A
|
rs542053472
|
0.00043
|
NM_000124.4(ERCC6):c.3804C>T (p.His1268=)
|
rs116032070
|
0.00042
|
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=)
|
rs35365613
|
0.00041
|
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
|
rs138532294
|
0.00038
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)
|
rs61749175
|
0.00035
|
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=)
|
rs116615540
|
0.00033
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
NM_000082.4(ERCC8):c.1023A>G (p.Val341=)
|
rs138173863
|
0.00032
|
NM_000124.4(ERCC6):c.*2460T>C
|
rs566027784
|
0.00032
|
NM_000124.4(ERCC6):c.*1780T>C
|
rs188228522
|
0.00031
|
NM_000124.4(ERCC6):c.*3720T>C
|
rs183472492
|
0.00031
|
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=)
|
rs142641602
|
0.00031
|
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)
|
rs138534983
|
0.00031
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
NM_000124.4(ERCC6):c.*900C>T
|
rs189979670
|
0.00026
|
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His)
|
rs139161933
|
0.00025
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
|
rs148933357
|
0.00024
|
NM_000124.4(ERCC6):c.*2237C>T
|
rs192242583
|
0.00023
|
NM_000124.4(ERCC6):c.*977A>G
|
rs765959190
|
0.00022
|
NM_000124.4(ERCC6):c.384C>T (p.Asp128=)
|
rs146165518
|
0.00021
|
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)
|
rs138296474
|
0.00021
|
NM_005236.3(ERCC4):c.738G>A (p.Ser246=)
|
rs146650135
|
0.00021
|
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln)
|
rs148845653
|
0.00020
|
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
|
rs200649435
|
0.00019
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
NM_005236.3(ERCC4):c.2018-18C>G
|
rs539818239
|
0.00018
|
NM_000082.4(ERCC8):c.173+9A>G
|
rs143356896
|
0.00017
|
NM_000124.4(ERCC6):c.2925-8T>A
|
rs147637331
|
0.00017
|
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)
|
rs2020960
|
0.00016
|
NM_000124.4(ERCC6):c.*2031A>G
|
rs1050975183
|
0.00015
|
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)
|
rs761802751
|
0.00015
|
NM_000124.4(ERCC6):c.*4208A>G
|
rs182395696
|
0.00014
|
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)
|
rs145622432
|
0.00014
|
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)
|
rs200715555
|
0.00014
|
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)
|
rs3136092
|
0.00014
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser)
|
rs199590588
|
0.00013
|
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)
|
rs116373975
|
0.00013
|
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys)
|
rs142496478
|
0.00013
|
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)
|
rs773007457
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
NM_000124.4(ERCC6):c.*2540G>T
|
rs535495750
|
0.00012
|
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)
|
rs114852424
|
0.00012
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)
|
rs143924094
|
0.00011
|
NM_005236.3(ERCC4):c.389-9C>A
|
rs369626998
|
0.00011
|
NM_005236.3(ERCC4):c.793-13A>T
|
rs201159142
|
0.00011
|
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)
|
rs138865542
|
0.00010
|
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)
|
rs139188695
|
0.00010
|
NM_005236.3(ERCC4):c.1102+13G>T
|
rs199772721
|
0.00010
|
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)
|
rs201642761
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val)
|
rs4253219
|
0.00009
|
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)
|
rs143260457
|
0.00009
|
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=)
|
rs376695854
|
0.00009
|
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
|
rs147458778
|
0.00009
|
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
|
rs368830992
|
0.00009
|
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)
|
rs370896187
|
0.00009
|
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)
|
rs758451676
|
0.00009
|
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=)
|
rs373237850
|
0.00009
|
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
|
rs146764714
|
0.00009
|
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
|
rs373408411
|
0.00009
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg)
|
rs146740678
|
0.00008
|
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)
|
rs374186605
|
0.00008
|
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)
|
rs780166871
|
0.00008
|
NM_000124.4(ERCC6):c.*922C>T
|
rs562204481
|
0.00007
|
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)
|
rs369437807
|
0.00007
|
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=)
|
rs114490473
|
0.00007
|
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)
|
rs116275562
|
0.00007
|
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)
|
rs149382642
|
0.00007
|
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)
|
rs3136151
|
0.00007
|
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
|
rs55736359
|
0.00007
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
|
rs180919656
|
0.00007
|
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
|
rs374978891
|
0.00007
|
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
|
rs555317161
|
0.00007
|
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu)
|
rs761087753
|
0.00007
|
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)
|
rs150077735
|
0.00007
|
NM_000082.4(ERCC8):c.173+1119G>C
|
rs1043679457
|
0.00006
|
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile)
|
rs192695896
|
0.00006
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)
|
rs201894064
|
0.00006
|
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val)
|
rs139913322
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
|
rs552142099
|
0.00006
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)
|
rs374556359
|
0.00006
|
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)
|
rs376688194
|
0.00006
|
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)
|
rs200818432
|
0.00006
|
NM_005236.3(ERCC4):c.257G>A (p.Arg86His)
|
rs187435008
|
0.00006
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
NM_005236.3(ERCC4):c.260G>A (p.Arg87His)
|
rs371487368
|
0.00006
|
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)
|
rs140726146
|
0.00006
|
NM_005236.3(ERCC4):c.389-5C>T
|
rs377224276
|
0.00006
|
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly)
|
rs373174008
|
0.00005
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys)
|
rs116431130
|
0.00005
|
NM_000124.4(ERCC6):c.2829+11A>T
|
rs777251839
|
0.00005
|
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)
|
rs375181157
|
0.00005
|
NM_000124.4(ERCC6):c.3983+4A>G
|
rs370938370
|
0.00005
|
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)
|
rs750883282
|
0.00005
|
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn)
|
rs1238124123
|
0.00005
|
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
|
rs150291286
|
0.00005
|
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)
|
rs373906926
|
0.00005
|
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
|
rs750999717
|
0.00005
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)
|
rs561366032
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000124.4(ERCC6):c.-107A>G
|
rs886047042
|
0.00004
|
NM_000124.4(ERCC6):c.-65G>A
|
rs1318032118
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00004
|
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)
|
rs373277796
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser)
|
rs760694729
|
0.00004
|
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)
|
rs200093886
|
0.00004
|
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His)
|
rs755854972
|
0.00004
|
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)
|
rs114403790
|
0.00004
|
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=)
|
rs144305111
|
0.00004
|
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)
|
rs572439259
|
0.00004
|
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
|
rs139197943
|
0.00004
|
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)
|
rs775278986
|
0.00004
|
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
|
rs763332387
|
0.00004
|
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)
|
rs56129764
|
0.00004
|
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)
|
rs775414253
|
0.00004
|
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)
|
rs779096061
|
0.00004
|
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)
|
rs758565772
|
0.00004
|
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)
|
rs746576915
|
0.00004
|
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)
|
rs770255135
|
0.00004
|
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=)
|
rs757316495
|
0.00004
|
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=)
|
rs191674905
|
0.00004
|
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)
|
rs374243778
|
0.00004
|
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
|
rs373570729
|
0.00004
|
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)
|
rs148904556
|
0.00004
|
NM_005236.3(ERCC4):c.906T>C (p.Asp302=)
|
rs148003381
|
0.00004
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
NM_000082.4(ERCC8):c.399+1G>A
|
rs774047625
|
0.00003
|
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile)
|
rs150952570
|
0.00003
|
NM_000082.4(ERCC8):c.472T>C (p.Leu158=)
|
rs561001438
|
0.00003
|
NM_000082.4(ERCC8):c.650del (p.Arg217fs)
|
rs1561502158
|
0.00003
|
NM_000124.4(ERCC6):c.*1383T>G
|
rs886047023
|
0.00003
|
NM_000124.4(ERCC6):c.*3356C>T
|
rs563034452
|
0.00003
|
NM_000124.4(ERCC6):c.*388C>A
|
rs886047029
|
0.00003
|
NM_000124.4(ERCC6):c.*38A>G
|
rs756639495
|
0.00003
|
NM_000124.4(ERCC6):c.*3925A>G
|
rs981190765
|
0.00003
|
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
|
rs374490261
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr)
|
rs186839348
|
0.00003
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_000124.4(ERCC6):c.2287-3T>C
|
rs780652533
|
0.00003
|
NM_000124.4(ERCC6):c.2287-5C>T
|
rs772880581
|
0.00003
|
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=)
|
rs200079929
|
0.00003
|
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)
|
rs116715649
|
0.00003
|
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)
|
rs745352643
|
0.00003
|
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)
|
rs747941045
|
0.00003
|
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)
|
rs201813523
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
|
rs144602005
|
0.00003
|
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=)
|
rs760367072
|
0.00003
|
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)
|
rs149056863
|
0.00003
|
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=)
|
rs367595904
|
0.00003
|
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)
|
rs369471816
|
0.00003
|
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)
|
rs565249189
|
0.00003
|
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
|
rs762543560
|
0.00003
|
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)
|
rs144058769
|
0.00003
|
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn)
|
rs1567253853
|
0.00003
|
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)
|
rs141790888
|
0.00003
|
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)
|
rs1211543560
|
0.00003
|
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)
|
rs775257742
|
0.00003
|
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile)
|
rs763811136
|
0.00003
|
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val)
|
rs941012957
|
0.00003
|
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
|
rs764093404
|
0.00003
|
NM_005236.3(ERCC4):c.69G>A (p.Val23=)
|
rs201606798
|
0.00003
|
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)
|
rs587778282
|
0.00003
|
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
|
rs1457864707
|
0.00003
|
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
|
rs200596978
|
0.00003
|
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)
|
rs777183693
|
0.00003
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
NM_000082.4(ERCC8):c.*763A>C
|
rs886060717
|
0.00002
|
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)
|
rs373783755
|
0.00002
|
NM_000124.4(ERCC6):c.-32G>A
|
rs1215179845
|
0.00002
|
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp)
|
rs375995821
|
0.00002
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)
|
rs765252538
|
0.00002
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.422+1G>A
|
rs1198472093
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
|
rs753728949
|
0.00002
|
NM_005236.3(ERCC4):c.105C>T (p.Cys35=)
|
rs762885804
|
0.00002
|
NM_005236.3(ERCC4):c.1214-19T>C
|
rs747124669
|
0.00002
|
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met)
|
rs761301503
|
0.00002
|
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)
|
rs779538282
|
0.00002
|
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=)
|
rs1420641422
|
0.00002
|
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=)
|
rs769817145
|
0.00002
|
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala)
|
rs773850619
|
0.00002
|
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)
|
rs752894496
|
0.00002
|
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)
|
rs201501958
|
0.00002
|
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
|
rs373510515
|
0.00002
|
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)
|
rs200069811
|
0.00002
|
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)
|
rs769932063
|
0.00002
|
NM_005236.3(ERCC4):c.2604C>T (p.His868=)
|
rs370809250
|
0.00002
|
NM_005236.3(ERCC4):c.2607C>T (p.His869=)
|
rs769736716
|
0.00002
|
NM_005236.3(ERCC4):c.540A>G (p.Arg180=)
|
rs765599689
|
0.00002
|
NM_005236.3(ERCC4):c.700A>C (p.Asn234His)
|
rs368218302
|
0.00002
|
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)
|
rs202243691
|
0.00002
|
NM_000082.4(ERCC8):c.*116T>C
|
rs1747937844
|
0.00001
|
NM_000082.4(ERCC8):c.*602C>G
|
rs1000325333
|
0.00001
|
NM_000082.4(ERCC8):c.*724C>G
|
rs886060718
|
0.00001
|
NM_000082.4(ERCC8):c.1042-1G>A
|
rs897535441
|
0.00001
|
NM_000082.4(ERCC8):c.1042-2A>G
|
rs372237310
|
0.00001
|
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)
|
rs750622098
|
0.00001
|
NM_000082.4(ERCC8):c.1122+1G>A
|
rs1482664387
|
0.00001
|
NM_000082.4(ERCC8):c.1137del (p.Gln380fs)
|
rs1343747301
|
0.00001
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser)
|
rs886060722
|
0.00001
|
NM_000082.4(ERCC8):c.399+3A>G
|
rs768423381
|
0.00001
|
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)
|
rs281875222
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000082.4(ERCC8):c.551-10G>T
|
rs758296965
|
0.00001
|
NM_000082.4(ERCC8):c.590G>A (p.Arg197His)
|
rs763453717
|
0.00001
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00001
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
0.00001
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
0.00001
|
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
|
rs370657735
|
0.00001
|
NM_000082.4(ERCC8):c.843+1G>T
|
rs1305258765
|
0.00001
|
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)
|
rs933739444
|
0.00001
|
NM_000124.4(ERCC6):c.*2662T>C
|
rs924324836
|
0.00001
|
NM_000124.4(ERCC6):c.*3217T>G
|
rs758928784
|
0.00001
|
NM_000124.4(ERCC6):c.*3704C>T
|
rs1393093094
|
0.00001
|
NM_000124.4(ERCC6):c.*681G>A
|
rs547014227
|
0.00001
|
NM_000124.4(ERCC6):c.-100A>G
|
rs886047041
|
0.00001
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)
|
rs140135643
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.1686-12G>A
|
rs774930802
|
0.00001
|
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)
|
rs767709344
|
0.00001
|
NM_000124.4(ERCC6):c.1821+1G>A
|
rs1228919836
|
0.00001
|
NM_000124.4(ERCC6):c.1993-12T>C
|
rs751115103
|
0.00001
|
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His)
|
rs769904341
|
0.00001
|
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)
|
rs202080674
|
0.00001
|
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=)
|
rs544471829
|
0.00001
|
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)
|
rs756713165
|
0.00001
|
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)
|
rs774791374
|
0.00001
|
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)
|
rs780538788
|
0.00001
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)
|
rs751448793
|
0.00001
|
NM_000124.4(ERCC6):c.2598+7G>A
|
rs769421755
|
0.00001
|
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met)
|
rs374470147
|
0.00001
|
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser)
|
rs763811839
|
0.00001
|
NM_000124.4(ERCC6):c.2830-2A>G
|
rs373227647
|
0.00001
|
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)
|
rs563142074
|
0.00001
|
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)
|
rs771604820
|
0.00001
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=)
|
rs374791168
|
0.00001
|
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys)
|
rs367552064
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000124.4(ERCC6):c.423-9A>C
|
rs775274710
|
0.00001
|
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser)
|
rs759125039
|
0.00001
|
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)
|
rs762976316
|
0.00001
|
NM_000124.4(ERCC6):c.543+4del
|
rs527236039
|
0.00001
|
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)
|
rs886047039
|
0.00001
|
NM_000124.4(ERCC6):c.804A>G (p.Ala268=)
|
rs777672678
|
0.00001
|
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
|
rs768589918
|
0.00001
|
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)
|
rs1218964618
|
0.00001
|
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr)
|
rs1458037304
|
0.00001
|
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
|
rs765535723
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NM_005236.3(ERCC4):c.1102+7T>A
|
rs766826151
|
0.00001
|
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)
|
rs774643449
|
0.00001
|
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=)
|
rs760060914
|
0.00001
|
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)
|
rs751348446
|
0.00001
|
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser)
|
rs767454772
|
0.00001
|
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=)
|
rs752193295
|
0.00001
|
NM_005236.3(ERCC4):c.1214-4T>G
|
rs2032257283
|
0.00001
|
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)
|
rs762147159
|
0.00001
|
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
|
rs751095195
|
0.00001
|
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
|
rs767138486
|
0.00001
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)
|
rs752379459
|
0.00001
|
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val)
|
rs767408205
|
0.00001
|
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys)
|
rs1473430382
|
0.00001
|
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
|
rs1001540758
|
0.00001
|
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
|
rs368559924
|
0.00001
|
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
|
rs1298488189
|
0.00001
|
NM_005236.3(ERCC4):c.1347C>A (p.Val449=)
|
rs1352012558
|
0.00001
|
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
|
rs759312308
|
0.00001
|
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)
|
rs757860762
|
0.00001
|
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)
|
rs766111215
|
0.00001
|
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=)
|
rs768020598
|
0.00001
|
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)
|
rs779170299
|
0.00001
|
NM_005236.3(ERCC4):c.15G>A (p.Gln5=)
|
rs748509102
|
0.00001
|
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)
|
rs1002156756
|
0.00001
|
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile)
|
rs549865610
|
0.00001
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)
|
rs751782722
|
0.00001
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=)
|
rs954215121
|
0.00001
|
NM_005236.3(ERCC4):c.1905-7C>G
|
rs1459073174
|
0.00001
|
NM_005236.3(ERCC4):c.1971A>G (p.Val657=)
|
rs993218238
|
0.00001
|
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
|
rs753506602
|
0.00001
|
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)
|
rs756811179
|
0.00001
|
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)
|
rs779366136
|
0.00001
|
NM_005236.3(ERCC4):c.2017+3G>A
|
rs1596634140
|
0.00001
|
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
|
rs772728961
|
0.00001
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
|
rs769731155
|
0.00001
|
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
|
rs777184889
|
0.00001
|
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)
|
rs1255618541
|
0.00001
|
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)
|
rs372425414
|
0.00001
|
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)
|
rs753924297
|
0.00001
|
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=)
|
rs1477890575
|
0.00001
|
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)
|
rs535728795
|
0.00001
|
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)
|
rs61760162
|
0.00001
|
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu)
|
rs765712858
|
0.00001
|
NM_005236.3(ERCC4):c.2421T>C (p.His807=)
|
rs1387272253
|
0.00001
|
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=)
|
rs1295720869
|
0.00001
|
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)
|
rs774635437
|
0.00001
|
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)
|
rs138583819
|
0.00001
|
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
|
rs377562755
|
0.00001
|
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
|
rs749822053
|
0.00001
|
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)
|
rs587778284
|
0.00001
|
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
|
rs191886782
|
0.00001
|
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=)
|
rs538267970
|
0.00001
|
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)
|
rs2032564211
|
0.00001
|
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
|
rs2020956
|
0.00001
|
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
|
rs767586458
|
0.00001
|
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
|
rs753596005
|
0.00001
|
NM_005236.3(ERCC4):c.376G>C (p.Asp126His)
|
rs1192940719
|
0.00001
|
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)
|
rs754622238
|
0.00001
|
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)
|
rs145402255
|
0.00001
|
NM_005236.3(ERCC4):c.541G>A (p.Val181Met)
|
rs750673145
|
0.00001
|
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)
|
rs748499820
|
0.00001
|
NM_005236.3(ERCC4):c.718C>T (p.Leu240=)
|
rs746904084
|
0.00001
|
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu)
|
rs370864937
|
0.00001
|
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
|
rs765111229
|
0.00001
|
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile)
|
rs1265753536
|
0.00001
|
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)
|
rs746106147
|
0.00001
|
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro)
|
rs2032156137
|
0.00001
|
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)
|
rs886051659
|
0.00001
|
NM_005236.3(ERCC4):c.924T>C (p.Asn308=)
|
rs1408777193
|
0.00001
|
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
|
rs1340754747
|
0.00001
|
NM_005236.3(ERCC4):c.948G>A (p.Thr316=)
|
rs770736492
|
0.00001
|
NM_005236.3(ERCC4):c.974-17T>C
|
rs2032183635
|
0.00001
|
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)
|
rs886060726
|
0.00001
|
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
|
|
|
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
|
|
|
NC_000005.9:g.60164820_60244992del
|
|
|
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
|
|
|
NC_000010.10:g.(?_49383876)_(52383915_?)del
|
|
|
NC_000016.10:g.(?_13821951)_(13937868_?)dup
|
|
|
NC_000016.10:g.(?_13920156)_(13948357_?)del
|
|
|
NC_000016.10:g.(?_13928022)_(13928241_?)del
|
|
|
NC_000016.10:g.13919809A>C
|
rs6498486
|
|
NC_000016.9:g.(?_13915808)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14020398)_(14022112_?)del
|
|
|
NC_000016.9:g.(?_14031613)_(14031725_?)del
|
|
|
NC_000016.9:g.(?_14038570)_(14038702_?)del
|
|
|
NM_000082.3:c.844_1122del
|
|
|
NM_000082.4(ERCC8):c.*113A>G
|
rs567684336
|
|
NM_000082.4(ERCC8):c.*373_*375dup
|
rs886060720
|
|
NM_000082.4(ERCC8):c.*377C>G
|
rs1747930621
|
|
NM_000082.4(ERCC8):c.*462T>A
|
rs886060719
|
|
NM_000082.4(ERCC8):c.*583T>C
|
rs4647158
|
|
NM_000082.4(ERCC8):c.*644G>A
|
rs181536191
|
|
NM_000082.4(ERCC8):c.*725T>G
|
rs549186090
|
|
NM_000082.4(ERCC8):c.*7T>A
|
rs377745901
|
|
NM_000082.4(ERCC8):c.-25G>C
|
rs745927528
|
|
NM_000082.4(ERCC8):c.-33C>T
|
rs769026318
|
|
NM_000082.4(ERCC8):c.1006del (p.Thr336fs)
|
rs1554072703
|
|
NM_000082.4(ERCC8):c.1042-1G>C
|
rs897535441
|
|
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)
|
rs543291626
|
|
NM_000082.4(ERCC8):c.1125del (p.Thr376fs)
|
rs1554071508
|
|
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)
|
rs368676801
|
|
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)
|
rs754890794
|
|
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)
|
rs1554071495
|
|
NM_000082.4(ERCC8):c.141del (p.Asn47fs)
|
rs786205176
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp)
|
rs1749618539
|
|
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
|
rs1749617646
|
|
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
|
|
|
NM_000082.4(ERCC8):c.275+1G>A
|
|
|
NM_000082.4(ERCC8):c.276-2A>G
|
rs1554074597
|
|
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)
|
rs1131691783
|
|
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)
|
rs143367518
|
|
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)
|
rs367874889
|
|
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)
|
rs1404477615
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000082.4(ERCC8):c.390T>C (p.Asn130=)
|
rs367632666
|
|
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)
|
rs774542633
|
|
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)
|
rs1749495521
|
|
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)
|
rs1249878855
|
|
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
|
|
|
NM_000082.4(ERCC8):c.481+1G>C
|
rs1580007152
|
|
NM_000082.4(ERCC8):c.482-2A>G
|
rs1554073420
|
|
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)
|
rs1748970086
|
|
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
|
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
|
|
|
NM_000082.4(ERCC8):c.562_564del (p.Glu188del)
|
rs1404307838
|
|
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
|
|
|
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
|
|
|
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)
|
rs2112491212
|
|
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)
|
rs1748819276
|
|
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter)
|
rs1554073177
|
|
NM_000082.4(ERCC8):c.679del (p.Asp227fs)
|
rs1554073175
|
|
NM_000082.4(ERCC8):c.719-2A>G
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.719-2A>T
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.77+2T>G
|
rs1554076239
|
|
NM_000082.4(ERCC8):c.78-2A>T
|
rs748379243
|
|
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)
|
rs281875225
|
|
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro)
|
rs886060721
|
|
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)
|
rs1748531932
|
|
NM_000082.4(ERCC8):c.928del (p.Val310fs)
|
rs1554072713
|
|
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)
|
rs1173045461
|
|
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)
|
rs1749828987
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)
|
rs1748527879
|
|
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
|
|
|
NM_000124.3(ERCC6):c.1684_1705del
|
|
|
NM_000124.4(ERCC6):c.*1805G>T
|
rs1850494237
|
|
NM_000124.4(ERCC6):c.*1860A>G
|
rs886047022
|
|
NM_000124.4(ERCC6):c.*232dup
|
rs74561842
|
|
NM_000124.4(ERCC6):c.*2337A>C
|
rs557944846
|
|
NM_000124.4(ERCC6):c.*246T>C
|
rs1850520931
|
|
NM_000124.4(ERCC6):c.*2946C>T
|
rs146529081
|
|
NM_000124.4(ERCC6):c.*2973C>G
|
rs951313840
|
|
NM_000124.4(ERCC6):c.*3366G>A
|
rs1850469256
|
|
NM_000124.4(ERCC6):c.*341A>G
|
rs886047030
|
|
NM_000124.4(ERCC6):c.*4090G>A
|
rs117555054
|
|
NM_000124.4(ERCC6):c.*482C>A
|
rs886047028
|
|
NM_000124.4(ERCC6):c.*589A>G
|
rs1850515497
|
|
NM_000124.4(ERCC6):c.*643G>A
|
rs886047027
|
|
NM_000124.4(ERCC6):c.*645G>C
|
rs886047026
|
|
NM_000124.4(ERCC6):c.*751G>A
|
rs886047025
|
|
NM_000124.4(ERCC6):c.*755A>G
|
rs886047024
|
|
NM_000124.4(ERCC6):c.-15+3G>T
|
rs1010201937
|
|
NM_000124.4(ERCC6):c.-52G>A
|
rs550772412
|
|
NM_000124.4(ERCC6):c.-83G>A
|
rs886047040
|
|
NM_000124.4(ERCC6):c.-87C>A
|
rs4253004
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
|
rs1590474873
|
|
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
|
|
|
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=)
|
rs764159237
|
|
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)
|
rs764159237
|
|
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)
|
rs1554793268
|
|
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)
|
rs1554793270
|
|
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)
|
rs1284316063
|
|
NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
|
|
|
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu)
|
rs141391984
|
|
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)
|
rs141391984
|
|
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln)
|
rs772545860
|
|
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
|
|
|
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
|
|
|
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
|
|
|
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del)
|
rs751610688
|
|
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
|
|
|
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)
|
rs886047038
|
|
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)
|
rs786205166
|
|
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=)
|
rs267602508
|
|
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
|
|
|
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)
|
rs779180885
|
|
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)
|
rs769020754
|
|
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
|
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
NM_000124.4(ERCC6):c.1397+1G>C
|
rs1554793174
|
|
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
|
|
|
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)
|
rs150762517
|
|
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)
|
rs1851434105
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.1527-2A>G
|
rs768608345
|
|
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)
|
rs121917900
|
|
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)
|
rs1057518910
|
|
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)
|
rs752712823
|
|
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp)
|
rs1564430115
|
|
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
|
|
|
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
|
|
|
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)
|
rs768188064
|
|
NM_000124.4(ERCC6):c.1815del (p.His605fs)
|
|
|
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)
|
rs961060711
|
|
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg)
|
rs200832611
|
|
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)
|
rs200832611
|
|
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)
|
rs1554789393
|
|
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)
|
rs786205167
|
|
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
|
|
|
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
|
|
|
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
|
|
|
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)
|
rs1851015811
|
|
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
|
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)
|
rs2132552521
|
|
NM_000124.4(ERCC6):c.1999del (p.Thr667fs)
|
rs786205169
|
|
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
|
|
|
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp)
|
rs1554788393
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe)
|
rs1554788383
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)
|
rs1439211546
|
|
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
|
|
|
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
|
|
|
NM_000124.4(ERCC6):c.214del (p.Leu72fs)
|
rs1554794640
|
|
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
|
|
|
NM_000124.4(ERCC6):c.2169+1G>A
|
rs1441655600
|
|
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)
|
rs1850916835
|
|
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)
|
rs201930958
|
|
NM_000124.4(ERCC6):c.2286+1G>A
|
rs1362935450
|
|
NM_000124.4(ERCC6):c.2287-4G>A
|
rs375617750
|
|
NM_000124.4(ERCC6):c.22del (p.His8fs)
|
|
|
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
|
|
|
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
|
|
|
NM_000124.4(ERCC6):c.2336del (p.Phe779fs)
|
rs2132544294
|
|
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)
|
rs1850874595
|
|
NM_000124.4(ERCC6):c.2383-1G>A
|
rs1554787554
|
|
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)
|
rs886047036
|
|
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)
|
rs1850832795
|
|
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)
|
rs1850832063
|
|
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
|
|
|
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
|
|
|
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)
|
rs1554787509
|
|
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)
|
rs1850831525
|
|
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)
|
rs1554794620
|
|
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
|
|
|
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
|
|
|
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)
|
rs1554875536
|
|
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)
|
rs1283213117
|
|
NM_000124.4(ERCC6):c.2829+1G>A
|
rs1554875522
|
|
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)
|
rs1850797541
|
|
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
|
|
|
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys)
|
rs886047035
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu)
|
rs772104945
|
|
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
|
|
|
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)
|
rs1850770605
|
|
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)
|
rs1850769140
|
|
NM_000124.4(ERCC6):c.3071-1G>A
|
rs1554875287
|
|
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)
|
rs1850766086
|
|
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)
|
rs1342267719
|
|
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)
|
rs1850765501
|
|
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
|
|
|
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)
|
rs144445150
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
|
|
|
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)
|
rs1850759141
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg)
|
rs1435512927
|
|
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)
|
rs1850757159
|
|
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)
|
rs1286402535
|
|
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)
|
rs886047034
|
|
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro)
|
rs1590405627
|
|
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
|
|
|
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
|
|
|
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)
|
rs1850754584
|
|
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
|
|
|
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del)
|
rs1248870490
|
|
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)
|
rs1850753467
|
|
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)
|
rs1287286877
|
|
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
|
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter)
|
rs786205173
|
|
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)
|
rs1554875155
|
|
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
|
|
|
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)
|
rs1554875154
|
|
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser)
|
rs886042655
|
|
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=)
|
rs886047033
|
|
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)
|
rs2228527
|
|
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
|
rs1850750513
|
|
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
|
|
|
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
|
|
|
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)
|
rs4253211
|
|
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)
|
rs1850747928
|
|
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro)
|
rs1464826740
|
|
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
|
|
|
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=)
|
rs35756610
|
|
NM_000124.4(ERCC6):c.3778+1G>C
|
rs1554875114
|
|
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)
|
rs1386369933
|
|
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)
|
rs786205174
|
|
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro)
|
rs1554874085
|
|
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)
|
rs1564725764
|
|
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)
|
rs1554874073
|
|
NM_000124.4(ERCC6):c.3984-2A>G
|
rs1554873973
|
|
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)
|
rs2132639937
|
|
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs)
|
rs786205175
|
|
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)
|
rs1379322521
|
|
NM_000124.4(ERCC6):c.4062+2T>A
|
rs1554873950
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp)
|
rs370285377
|
|
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
|
|
|
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
|
rs1850531575
|
|
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)
|
rs1272960343
|
|
NM_000124.4(ERCC6):c.422+1G>C
|
rs1198472093
|
|
NM_000124.4(ERCC6):c.423-7T>C
|
rs1837452924
|
|
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)
|
rs1360922012
|
|
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter)
|
rs1554873743
|
|
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)
|
rs1554794360
|
|
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)
|
rs886047032
|
|
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
|
|
|
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
|
|
|
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
|
|
|
NM_000124.4(ERCC6):c.543+1G>T
|
rs1837448977
|
|
NM_000124.4(ERCC6):c.544-2A>G
|
rs1554794073
|
|
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)
|
rs1837393519
|
|
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
|
|
|
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)
|
rs577021605
|
|
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)
|
rs875989810
|
|
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys)
|
rs2132631324
|
|
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
|
|
|
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)
|
rs1254008304
|
|
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)
|
rs2132621608
|
|
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)
|
rs797045562
|
|
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)
|
rs766256094
|
|
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)
|
rs765040780
|
|
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)
|
rs387906262
|
|
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter)
|
rs886039224
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
|
|
|
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=)
|
rs1162384254
|
|
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
|
|
|
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
|
|
|
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
|
rs755219554
|
|
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
|
rs145851520
|
|
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)
|
rs145851520
|
|
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr)
|
rs201410515
|
|
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)
|
|
|
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
|
|
|
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
|
|
|
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
|
|
|
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
|
|
|
NM_005236.3(ERCC4):c.1102+14T>C
|
|
|
NM_005236.3(ERCC4):c.1102+20C>T
|
|
|
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
|
|
|
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
|
rs2032238318
|
|
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
|
|
|
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
|
|
|
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
|
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
|
|
|
NM_005236.3(ERCC4):c.1213+11dup
|
|
|
NM_005236.3(ERCC4):c.1213+8A>G
|
|
|
NM_005236.3(ERCC4):c.1214-10C>A
|
|
|
NM_005236.3(ERCC4):c.1214-8A>G
|
|
|
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
|
|
|
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
|
rs374470560
|
|
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
|
rs2141606819
|
|
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
|
|
|
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
|
|
|
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
|
|
|
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
|
rs1596616623
|
|
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
|
|
|
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)
|
rs2141606968
|
|
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
|
rs1482378244
|
|
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
|
|
|
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
|
rs547209644
|
|
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
|
|
|
NM_005236.3(ERCC4):c.1347C>G (p.Val449=)
|
rs1352012558
|
|
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
|
|
|
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
|
|
|
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
|
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
|
|
|
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
|
|
|
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
|
rs780488548
|
|
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
|
|
|
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)
|
rs886051664
|
|
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
|
|
|
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
|
rs2141607404
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
|
|
|
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg)
|
rs2141607524
|
|
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
|
|
|
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del)
|
rs2141607630
|
|
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
|
|
|
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
|
|
|
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
|
|
|
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
|
|
|
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
|
|
|
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
|
|
|
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
|
|
|
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
|
|
|
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)
|
rs376216413
|
|
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
|
|
|
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=)
|
rs776049363
|
|
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
|
|
|
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys)
|
rs1443581940
|
|
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
|
|
|
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
|
rs765254949
|
|
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
|
|
|
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
|
|
|
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)
|
rs2141607987
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
|
|
|
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
|
rs2032274770
|
|
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
|
|
|
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
|
|
|
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
|
|
|
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
|
|
|
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=)
|
rs374303503
|
|
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
|
|
|
NM_005236.3(ERCC4):c.178C>T (p.Leu60=)
|
rs2141937412
|
|
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
|
rs1336284412
|
|
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
|
|
|
NM_005236.3(ERCC4):c.1811+16T>C
|
|
|
NM_005236.3(ERCC4):c.1811+9T>A
|
|
|
NM_005236.3(ERCC4):c.1811+9T>G
|
rs1235957230
|
|
NM_005236.3(ERCC4):c.1812-17T>C
|
rs1399858595
|
|
NM_005236.3(ERCC4):c.1812-6A>G
|
|
|
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
|
|
|
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
|
|
|
NM_005236.3(ERCC4):c.183G>A (p.Val61=)
|
rs1215558892
|
|
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
|
|
|
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
|
|
|
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
|
|
|
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
|
|
|
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
|
rs766395322
|
|
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
|
rs766395322
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
|
|
|
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=)
|
rs954215121
|
|
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
|
|
|
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
|
|
|
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
|
|
|
NM_005236.3(ERCC4):c.1904+7C>T
|
|
|
NM_005236.3(ERCC4):c.1905-20G>C
|
|
|
NM_005236.3(ERCC4):c.1905-4A>G
|
|
|
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
|
|
|
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu)
|
rs770771750
|
|
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
|
|
|
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
|
|
|
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
|
|
|
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
|
rs2141617128
|
|
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
|
|
|
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
|
|
|
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)
|
rs771117594
|
|
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
|
|
|
NM_005236.3(ERCC4):c.2017+19del
|
|
|
NM_005236.3(ERCC4):c.2018-19A>T
|
|
|
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln)
|
rs2141619663
|
|
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
|
|
|
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
|
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
|
|
|
NM_005236.3(ERCC4):c.207+13T>A
|
rs759023704
|
|
NM_005236.3(ERCC4):c.207+13T>C
|
rs759023704
|
|
NM_005236.3(ERCC4):c.207+16C>G
|
|
|
NM_005236.3(ERCC4):c.207+19G>T
|
|
|
NM_005236.3(ERCC4):c.207+6G>T
|
rs2141937518
|
|
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
|
|
|
NM_005236.3(ERCC4):c.208-19C>G
|
|
|
NM_005236.3(ERCC4):c.208-3T>C
|
rs773956647
|
|
NM_005236.3(ERCC4):c.208-3T>G
|
|
|
NM_005236.3(ERCC4):c.208-6A>G
|
rs1596617926
|
|
NM_005236.3(ERCC4):c.208-7G>T
|
|
|
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
|
|
|
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
|
|
|
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
|
|
|
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
|
|
|
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val)
|
rs774900622
|
|
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
|
|
|
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
|
rs2032542117
|
|
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
|
|
|
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
|
rs376391395
|
|
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)
|
rs376391395
|
|
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn)
|
rs1442567731
|
|
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr)
|
rs2141619950
|
|
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu)
|
rs2141939855
|
|
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=)
|
rs2020959
|
|
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His)
|
rs368096448
|
|
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
|
|
|
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
|
|
|
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
|
rs2032546331
|
|
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
|
|
|
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=)
|
rs1193180379
|
|
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
|
|
|
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)
|
rs756050702
|
|
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
|
|
|
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
|
|
|
NM_005236.3(ERCC4):c.22C>A (p.Arg8=)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=)
|
rs765321722
|
|
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
|
rs2032550979
|
|
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
|
|
|
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
|
|
|
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
|
|
|
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
|
|
|
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
|
|
|
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
|
|
|
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu)
|
rs1303709169
|
|
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
|
rs111613748
|
|
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
|
|
|
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
|
|
|
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)
|
rs55761944
|
|
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)
|
rs55761944
|
|
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=)
|
rs1031792719
|
|
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
|
|
|
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
|
|
|
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
|
|
|
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
|
rs765253522
|
|
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
|
rs1417783312
|
|
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
|
|
|
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
|
|
|
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
|
|
|
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
|
|
|
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe)
|
rs2141939932
|
|
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
|
|
|
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)
|
|
|
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
|
|
|
NM_005236.3(ERCC4):c.2574G>A (p.Val858=)
|
rs753126294
|
|
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
|
rs2032559742
|
|
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
|
|
|
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
|
|
|
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg)
|
rs368064765
|
|
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
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|
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NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met)
|
rs759042927
|
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NM_005236.3(ERCC4):c.2619C>T (p.Ile873=)
|
rs759042927
|
|
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
|
rs2032561804
|
|
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
|
rs766946690
|
|
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
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|
|
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
|
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|
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
|
|
|
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)
|
|
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NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
|
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NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
|
|
|
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
|
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|
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
|
|
|
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
|
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|
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
|
|
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NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr)
|
rs2141621448
|
|
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
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|
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NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
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|
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NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
|
rs1214498950
|
|
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
|
|
|
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
|
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NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
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NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
|
rs2032565777
|
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NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
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NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
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NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
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|
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NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
|
|
|
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
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|
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
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NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
|
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NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
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NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
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NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
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NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
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NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
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NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
|
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NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
|
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NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
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NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
|
|
|
NM_005236.3(ERCC4):c.372T>C (p.Pro124=)
|
rs780096152
|
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NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
|
rs374243778
|
|
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
|
|
|
NM_005236.3(ERCC4):c.388+13A>G
|
rs2078004740
|
|
NM_005236.3(ERCC4):c.388+15T>C
|
|
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NM_005236.3(ERCC4):c.388+20_388+25del
|
|
|
NM_005236.3(ERCC4):c.389-5C>A
|
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|
NM_005236.3(ERCC4):c.389-8C>G
|
rs1325456652
|
|
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
|
|
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NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
|
rs772606808
|
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NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
|
|
|
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
|
|
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NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys)
|
rs1567243693
|
|
NM_005236.3(ERCC4):c.420C>T (p.Ile140=)
|
rs138724289
|
|
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
|
|
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NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
|
rs2141936987
|
|
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
|
|
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NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
|
|
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NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
|
|
|
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys)
|
rs1307031587
|
|
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
|
|
|
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser)
|
rs181993439
|
|
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
|
rs2032078220
|
|
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
|
rs2032078374
|
|
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
|
rs373789508
|
|
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)
|
rs2020961
|
|
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)
|
rs2020961
|
|
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
|
rs1405781900
|
|
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
|
|
|
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
|
|
|
NM_005236.3(ERCC4):c.534G>T (p.Val178=)
|
rs957009045
|
|
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
|
|
|
NM_005236.3(ERCC4):c.555T>C (p.Leu185=)
|
rs113129434
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
|
|
|
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)
|
rs2141944936
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_005236.3(ERCC4):c.585-18A>C
|
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
NM_005236.3(ERCC4):c.591T>C (p.His197=)
|
|
|
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
|
|
|
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
|
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val)
|
rs2141946160
|
|
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
|
|
|
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
|
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
NM_005236.3(ERCC4):c.705A>G (p.Ala235=)
|
rs2032105533
|
|
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
|
|
|
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
|
rs2032105702
|
|
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
|
|
|
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
|
|
|
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
|
|
|
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
|
|
|
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
|
rs2032106630
|
|
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser)
|
rs962536419
|
|
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
|
|
|
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu)
|
rs1463126902
|
|
NM_005236.3(ERCC4):c.792+7T>C
|
|
|
NM_005236.3(ERCC4):c.793-17T>C
|
rs2141948343
|
|
NM_005236.3(ERCC4):c.793-18A>G
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
NM_005236.3(ERCC4):c.800G>A (p.Arg267His)
|
rs143479220
|
|
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
|
rs143479220
|
|
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
|
|
|
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
|
rs2141948404
|
|
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
|
|
|
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
|
|
|
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr)
|
rs2141948413
|
|
NM_005236.3(ERCC4):c.837C>G (p.Ala279=)
|
rs2032156289
|
|
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
|
|
|
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
|
|
|
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
|
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met)
|
rs1237587281
|
|
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)
|
rs778480216
|
|
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys)
|
rs996851583
|
|
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
|
|
|
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
|
rs772385411
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
|
|
|
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
|
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly)
|
rs773938568
|
|
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
|
|
|
NM_005236.3(ERCC4):c.973+17C>T
|
|
|
NM_005236.3(ERCC4):c.973+20A>G
|
|
|
NM_005236.3(ERCC4):c.973+7G>A
|
rs1216362714
|
|
NM_005236.3(ERCC4):c.974-20_974-16del
|
rs2141949732
|
|
NM_005236.3(ERCC4):c.974-7_974-6inv
|
|
|
NM_005236.3(ERCC4):c.974-8C>T
|
rs1567245872
|
|
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
|
|
|
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
|
|
|
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
|
|
|
NM_174889.4(NDUFAF2):c.-91C>T
|
rs4647036
|
|
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)
|
rs1554076325
|
|
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)
|
rs772489808
|
|
Single allele
|
|
|