ClinVar Miner

List of variants in gene ERCC6 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1414
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.423-230T>C rs4253026 0.89987
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000124.4(ERCC6):c.3779-284A>G rs4838518 0.42135
NM_000124.4(ERCC6):c.3778+162C>T rs4240505 0.41806
NM_000124.4(ERCC6):c.1993-100G>A rs4240506 0.41596
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.3779-218G>A rs12220258 0.23261
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.1993-128G>A rs4253165 0.18859
NM_000124.4(ERCC6):c.543+277C>T rs4253028 0.18419
NM_000124.4(ERCC6):c.-14-156C>T rs4253011 0.18407
NM_000124.4(ERCC6):c.4063-165A>G rs4253226 0.16829
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.3779-192T>G rs12221460 0.09929
NM_000124.4(ERCC6):c.652+135T>A rs4253040 0.09915
NM_000124.4(ERCC6):c.653-252G>T rs4253043 0.09914
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.3983+229G>A rs3810945 0.09572
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.3984-195G>A rs4253223 0.06472
NM_000124.4(ERCC6):c.3779-131A>G rs41549314 0.06468
NM_000124.4(ERCC6):c.-14-227T>G rs1964145 0.06463
NM_000124.4(ERCC6):c.-14-59T>C rs1126112 0.06462
NM_000124.4(ERCC6):c.1992+233A>C rs4253164 0.06226
NM_000124.4(ERCC6):c.2170-38C>T rs11101139 0.05771
NM_000124.4(ERCC6):c.-15+232G>C rs4253008 0.04256
NM_000124.4(ERCC6):c.423-324C>T rs4253025 0.02568
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000124.4(ERCC6):c.3779-290A>T rs74944791 0.01895
NM_000124.4(ERCC6):c.1822-171C>T rs4253161 0.01683
NM_000124.4(ERCC6):c.543+310A>G rs4253029 0.01584
NM_000124.4(ERCC6):c.1821+26T>C rs4253133 0.01581
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.*1327G>A rs117289374 0.01454
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000124.4(ERCC6):c.2169+305G>A rs55719105 0.01283
NM_000124.4(ERCC6):c.3983+89T>C rs4253220 0.01281
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611 0.00919
NM_000124.4(ERCC6):c.2082G>A (p.Pro694=) rs35182583 0.00918
NM_000124.4(ERCC6):c.1821+197C>A rs4253134 0.00877
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000124.4(ERCC6):c.3983+174C>T rs4253221 0.00814
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.1822-187C>T rs149526654 0.00633
NM_000124.4(ERCC6):c.2286+44T>C rs4253180 0.00517
NM_000124.4(ERCC6):c.2925-146G>A rs56292234 0.00476
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_000124.4(ERCC6):c.2170-49C>T rs114539132 0.00396
NM_000124.4(ERCC6):c.1398-308C>T rs4253100 0.00390
NM_000124.4(ERCC6):c.2382+54G>A rs3750750 0.00386
NM_000124.4(ERCC6):c.3778+120C>G rs114159712 0.00366
NM_000124.4(ERCC6):c.4062+146T>C rs12265674 0.00364
NM_000124.4(ERCC6):c.3778+16C>T rs4253212 0.00363
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000124.4(ERCC6):c.2382+288T>C rs7075294 0.00361
NM_000124.4(ERCC6):c.*2602A>G rs41281953 0.00319
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000124.4(ERCC6):c.*118A>C rs4253233 0.00201
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_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.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
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_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
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_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000124.4(ERCC6):c.962T>C (p.Leu321Pro) rs199899782 0.00066
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_000124.4(ERCC6):c.795T>C (p.Leu265=) rs113887203 0.00058
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys) rs150277901 0.00051
NM_000124.4(ERCC6):c.886A>G (p.Arg296Gly) rs115643329 0.00046
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg) rs4253228 0.00045
NM_000124.4(ERCC6):c.-11G>C rs4253012 0.00043
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070 0.00042
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00041
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_000124.4(ERCC6):c.385G>A (p.Val129Met) rs116360202 0.00038
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175 0.00035
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602 0.00031
NM_000124.4(ERCC6):c.1993-7C>T rs199870074 0.00028
NM_000124.4(ERCC6):c.246A>G (p.Ala82=) rs146371365 0.00028
NM_000124.4(ERCC6):c.1670G>A (p.Arg557His) rs41549213 0.00027
NM_000124.4(ERCC6):c.3187G>A (p.Val1063Ile) rs148475034 0.00026
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_000124.4(ERCC6):c.652+9G>T rs375032247 0.00024
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00020
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser) rs138758064 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000124.4(ERCC6):c.885T>C (p.Ala295=) rs4253044 0.00018
NM_000124.4(ERCC6):c.2287-8G>A rs371079288 0.00017
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_000124.4(ERCC6):c.4400G>A (p.Arg1467Gln) rs145554525 0.00017
NM_000124.4(ERCC6):c.1527-16G>T rs200100617 0.00016
NM_000124.4(ERCC6):c.2418C>T (p.Cys806=) rs375810438 0.00016
NM_000124.4(ERCC6):c.3836A>T (p.Tyr1279Phe) rs202160105 0.00016
NM_000124.4(ERCC6):c.4063-5T>C rs186482480 0.00016
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 0.00015
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys) rs145622432 0.00014
NM_000124.4(ERCC6):c.4315G>C (p.Ala1439Pro) rs530673596 0.00014
NM_000124.4(ERCC6):c.909G>T (p.Thr303=) rs371906160 0.00014
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_000124.4(ERCC6):c.1575G>A (p.Gln525=) rs36032377 0.00012
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu) rs114852424 0.00012
NM_000124.4(ERCC6):c.2679A>C (p.Ser893=) rs754737368 0.00011
NM_000124.4(ERCC6):c.4309T>A (p.Phe1437Ile) rs758679804 0.00011
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala) rs138822457 0.00010
NM_000124.4(ERCC6):c.1022A>G (p.Gln341Arg) rs367965088 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2395C>T (p.Leu799Phe) rs181838986 0.00009
NM_000124.4(ERCC6):c.3070+13A>C rs372041999 0.00009
NM_000124.4(ERCC6):c.3534T>C (p.Phe1178=) rs4253210 0.00009
NM_000124.4(ERCC6):c.3581A>G (p.Glu1194Gly) rs114479292 0.00009
NM_000124.4(ERCC6):c.3913C>T (p.Leu1305=) rs371533699 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_000124.4(ERCC6):c.879A>T (p.Arg293Ser) rs563356062 0.00009
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
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.4017C>T (p.Phe1339=) rs200428567 0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) rs149382642 0.00007
NM_000124.4(ERCC6):c.147T>C (p.Ser49=) rs148624868 0.00006
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile) rs199921831 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_000124.4(ERCC6):c.3895C>T (p.Leu1299Phe) rs200516416 0.00006
NM_000124.4(ERCC6):c.4158C>T (p.Ser1386=) rs114694744 0.00006
NM_000124.4(ERCC6):c.4272C>T (p.His1424=) rs759104524 0.00006
NM_000124.4(ERCC6):c.530A>G (p.Gln177Arg) rs141372606 0.00006
NM_000124.4(ERCC6):c.1587T>C (p.Ile529=) rs763672096 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.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.148G>A (p.Val50Met) rs746243560 0.00004
NM_000124.4(ERCC6):c.1662C>T (p.Ile554=) rs746372685 0.00004
NM_000124.4(ERCC6):c.1869A>T (p.Thr623=) rs1389511664 0.00004
NM_000124.4(ERCC6):c.1938C>T (p.Asp646=) rs117222844 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.2061G>A (p.Ser687=) rs145823189 0.00004
NM_000124.4(ERCC6):c.2209A>G (p.Thr737Ala) rs372128351 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2287-9C>T rs551092698 0.00004
NM_000124.4(ERCC6):c.2335T>G (p.Phe779Val) rs764456630 0.00004
NM_000124.4(ERCC6):c.2541G>A (p.Leu847=) rs374523249 0.00004
NM_000124.4(ERCC6):c.258C>T (p.Ser86=) rs114369077 0.00004
NM_000124.4(ERCC6):c.2958G>A (p.Val986=) rs369441175 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3095_3107del (p.Pro1032fs) rs755974092 0.00004
NM_000124.4(ERCC6):c.3148G>A (p.Val1050Ile) rs139932923 0.00004
NM_000124.4(ERCC6):c.3189A>G (p.Val1063=) rs201871784 0.00004
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886 0.00004
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr) rs377708438 0.00004
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 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_000124.4(ERCC6):c.652+11T>G rs190611014 0.00004
NM_000124.4(ERCC6):c.653-13A>G rs758120957 0.00004
NM_000124.4(ERCC6):c.1607T>G (p.Leu536Trp) rs774175886 0.00003
NM_000124.4(ERCC6):c.1773G>A (p.Pro591=) rs369030114 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.183C>T (p.Cys61=) rs115185216 0.00003
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.1993T>C (p.Phe665Leu) rs200272551 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 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.3090G>A (p.Gln1030=) rs548687511 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.402G>A (p.Arg134=) rs1404366062 0.00003
NM_000124.4(ERCC6):c.404C>T (p.Ser135Leu) rs114768774 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_000124.4(ERCC6):c.722G>A (p.Arg241His) rs771739674 0.00003
NM_000124.4(ERCC6):c.1401A>G (p.Arg467=) rs768367162 0.00002
NM_000124.4(ERCC6):c.1593A>G (p.Gly531=) rs562697922 0.00002
NM_000124.4(ERCC6):c.1758C>T (p.His586=) rs760864532 0.00002
NM_000124.4(ERCC6):c.1786A>G (p.Ile596Val) rs1056671646 0.00002
NM_000124.4(ERCC6):c.1800C>T (p.Thr600=) rs112314975 0.00002
NM_000124.4(ERCC6):c.1822-10G>A rs745333287 0.00002
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.1933T>C (p.Leu645=) rs1382183290 0.00002
NM_000124.4(ERCC6):c.2097G>A (p.Thr699=) rs75166536 0.00002
NM_000124.4(ERCC6):c.2230C>T (p.Arg744Trp) rs368188837 0.00002
NM_000124.4(ERCC6):c.225C>T (p.Ile75=) rs760871378 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 0.00002
NM_000124.4(ERCC6):c.2540T>C (p.Leu847Ser) rs761812362 0.00002
NM_000124.4(ERCC6):c.2595G>A (p.Arg865=) rs773120316 0.00002
NM_000124.4(ERCC6):c.2601G>T (p.Met867Ile) rs761558075 0.00002
NM_000124.4(ERCC6):c.3070+8A>G rs776675510 0.00002
NM_000124.4(ERCC6):c.3260G>A (p.Arg1087Gln) rs767788819 0.00002
NM_000124.4(ERCC6):c.3279T>A (p.Asp1093Glu) rs370757757 0.00002
NM_000124.4(ERCC6):c.3688C>T (p.Arg1230Cys) rs755377100 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_000124.4(ERCC6):c.480A>T (p.Gln160His) rs769850417 0.00002
NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser) rs760618206 0.00002
NM_000124.4(ERCC6):c.954C>T (p.Ala318=) rs771252681 0.00002
NM_000124.4(ERCC6):c.1068G>A (p.Glu356=) rs760845109 0.00001
NM_000124.4(ERCC6):c.1092G>A (p.Glu364=) rs1257006928 0.00001
NM_000124.4(ERCC6):c.1102G>C (p.Glu368Gln) rs1177995093 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.141T>C (p.Phe47=) rs768915628 0.00001
NM_000124.4(ERCC6):c.1425C>T (p.Asp475=) rs749503929 0.00001
NM_000124.4(ERCC6):c.143G>A (p.Arg48His) rs780434796 0.00001
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1461G>A (p.Glu487=) rs922967927 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1526+7A>G rs752009034 0.00001
NM_000124.4(ERCC6):c.1551G>A (p.Trp517Ter) rs1554790012 0.00001
NM_000124.4(ERCC6):c.156C>T (p.Asp52=) rs149914413 0.00001
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=) rs759447711 0.00001
NM_000124.4(ERCC6):c.1652A>G (p.Tyr551Cys) rs780446851 0.00001
NM_000124.4(ERCC6):c.1653C>T (p.Tyr551=) rs115095595 0.00001
NM_000124.4(ERCC6):c.1657A>T (p.Lys553Ter) rs1851339301 0.00001
NM_000124.4(ERCC6):c.167C>T (p.Thr56Ile) rs41281957 0.00001
NM_000124.4(ERCC6):c.1685+8C>T rs1239915670 0.00001
NM_000124.4(ERCC6):c.1686-12G>A rs774930802 0.00001
NM_000124.4(ERCC6):c.1686-6A>T rs771454918 0.00001
NM_000124.4(ERCC6):c.1696T>C (p.Leu566=) rs778177594 0.00001
NM_000124.4(ERCC6):c.1701T>G (p.Gly567=) rs747836397 0.00001
NM_000124.4(ERCC6):c.1727C>T (p.Thr576Ile) rs1361909458 0.00001
NM_000124.4(ERCC6):c.1749G>A (p.Lys583=) rs750222428 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.1822-2A>G rs1157288312 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.1955G>A (p.Arg652Gln) rs1365187961 0.00001
NM_000124.4(ERCC6):c.1974C>T (p.Val658=) rs1463979210 0.00001
NM_000124.4(ERCC6):c.1993-12T>C rs751115103 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=) rs546407915 0.00001
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829 0.00001
NM_000124.4(ERCC6):c.2031G>A (p.Pro677=) rs1212094499 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2079C>T (p.Phe693=) rs776361424 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2106G>A (p.Val702=) rs749505894 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.2166A>G (p.Val722=) rs1204511929 0.00001
NM_000124.4(ERCC6):c.2170-1G>A rs1310452605 0.00001
NM_000124.4(ERCC6):c.2170-6T>C rs1462023343 0.00001
NM_000124.4(ERCC6):c.2184C>T (p.Tyr728=) rs1227311839 0.00001
NM_000124.4(ERCC6):c.2239A>G (p.Lys747Glu) rs1413002384 0.00001
NM_000124.4(ERCC6):c.2244A>G (p.Ser748=) rs144548889 0.00001
NM_000124.4(ERCC6):c.2286+10T>C rs754022718 0.00001
NM_000124.4(ERCC6):c.2293T>C (p.Phe765Leu) rs1157637875 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2300G>A (p.Arg767His) rs56397747 0.00001
NM_000124.4(ERCC6):c.2313G>A (p.Glu771=) rs1182135800 0.00001
NM_000124.4(ERCC6):c.2358C>T (p.Tyr786=) rs372681812 0.00001
NM_000124.4(ERCC6):c.2359A>G (p.Arg787Gly) rs948909155 0.00001
NM_000124.4(ERCC6):c.2382+8A>G rs768158334 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.2622C>T (p.Phe874=) rs746074690 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.2709+7T>C rs774508618 0.00001
NM_000124.4(ERCC6):c.274C>T (p.Leu92=) rs752170411 0.00001
NM_000124.4(ERCC6):c.2925-9T>C rs377708780 0.00001
NM_000124.4(ERCC6):c.2931C>A (p.Ile977=) rs767997161 0.00001
NM_000124.4(ERCC6):c.294C>T (p.Asp98=) rs780795428 0.00001
NM_000124.4(ERCC6):c.3012A>G (p.Leu1004=) rs765577885 0.00001
NM_000124.4(ERCC6):c.3024T>G (p.Thr1008=) rs1454282398 0.00001
NM_000124.4(ERCC6):c.304C>G (p.Gln102Glu) rs1339834464 0.00001
NM_000124.4(ERCC6):c.3071-10C>T rs774381329 0.00001
NM_000124.4(ERCC6):c.309C>T (p.Asp103=) rs766170632 0.00001
NM_000124.4(ERCC6):c.3106C>T (p.Leu1036=) rs771450153 0.00001
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=) rs563142074 0.00001
NM_000124.4(ERCC6):c.3147T>C (p.Asp1049=) rs1008107416 0.00001
NM_000124.4(ERCC6):c.315G>A (p.Leu105=) rs761031098 0.00001
NM_000124.4(ERCC6):c.3171T>G (p.Pro1057=) rs1329864462 0.00001
NM_000124.4(ERCC6):c.3294T>C (p.Ser1098=) rs576565789 0.00001
NM_000124.4(ERCC6):c.3300T>C (p.Asn1100=) rs1192287179 0.00001
NM_000124.4(ERCC6):c.3314A>G (p.Asp1105Gly) rs757873730 0.00001
NM_000124.4(ERCC6):c.3335A>T (p.Asn1112Ile) rs1850759565 0.00001
NM_000124.4(ERCC6):c.3339A>G (p.Ala1113=) rs763810265 0.00001
NM_000124.4(ERCC6):c.3384A>G (p.Glu1128=) rs1001638584 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3495A>G (p.Thr1165=) rs1183478966 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.3603A>G (p.Arg1201=) rs551182653 0.00001
NM_000124.4(ERCC6):c.3661C>T (p.Arg1221Ter) rs529174213 0.00001
NM_000124.4(ERCC6):c.3666T>C (p.Ile1222=) rs1234353595 0.00001
NM_000124.4(ERCC6):c.3693C>T (p.Tyr1231=) rs986569705 0.00001
NM_000124.4(ERCC6):c.3699G>A (p.Lys1233=) rs762588948 0.00001
NM_000124.4(ERCC6):c.3744C>T (p.Asp1248=) rs780209673 0.00001
NM_000124.4(ERCC6):c.3747T>C (p.Asp1249=) rs777931939 0.00001
NM_000124.4(ERCC6):c.3778+15del rs753322516 0.00001
NM_000124.4(ERCC6):c.3778+17G>A rs751986947 0.00001
NM_000124.4(ERCC6):c.378C>T (p.Leu126=) rs140186496 0.00001
NM_000124.4(ERCC6):c.3882G>A (p.Leu1294=) rs762027586 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.3962C>G (p.Ser1321Cys) rs746330518 0.00001
NM_000124.4(ERCC6):c.405G>A (p.Ser135=) rs773706080 0.00001
NM_000124.4(ERCC6):c.4063-18G>A rs370123825 0.00001
NM_000124.4(ERCC6):c.410T>C (p.Leu137Pro) rs748403975 0.00001
NM_000124.4(ERCC6):c.4126G>C (p.Asp1376His) rs1255657939 0.00001
NM_000124.4(ERCC6):c.4185T>C (p.Ala1395=) rs892019345 0.00001
NM_000124.4(ERCC6):c.423-17T>G rs769047362 0.00001
NM_000124.4(ERCC6):c.423-9A>C rs775274710 0.00001
NM_000124.4(ERCC6):c.4230G>A (p.Gly1410=) rs765902760 0.00001
NM_000124.4(ERCC6):c.4252C>T (p.Leu1418=) rs931717253 0.00001
NM_000124.4(ERCC6):c.4305C>T (p.Ile1435=) rs1377171665 0.00001
NM_000124.4(ERCC6):c.4317C>T (p.Ala1439=) rs200254508 0.00001
NM_000124.4(ERCC6):c.4330C>T (p.Gln1444Ter) rs1338290383 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_000124.4(ERCC6):c.4431T>C (p.His1477=) rs944288503 0.00001
NM_000124.4(ERCC6):c.4445G>T (p.Gly1482Val) rs574307052 0.00001
NM_000124.4(ERCC6):c.4464C>T (p.Leu1488=) rs746028344 0.00001
NM_000124.4(ERCC6):c.4476C>T (p.Tyr1492=) rs1263450624 0.00001
NM_000124.4(ERCC6):c.447A>G (p.Gln149=) rs770732269 0.00001
NM_000124.4(ERCC6):c.468G>A (p.Gln156=) rs1170906637 0.00001
NM_000124.4(ERCC6):c.507G>A (p.Arg169=) rs377033583 0.00001
NM_000124.4(ERCC6):c.519T>C (p.Ser173=) rs775291191 0.00001
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NM_000124.4(ERCC6):c.56A>G (p.Gln19Arg) rs1205705497 0.00001
NM_000124.4(ERCC6):c.630C>T (p.His210=) rs140876119 0.00001
NM_000124.4(ERCC6):c.633C>T (p.Ala211=) rs1245482614 0.00001
NM_000124.4(ERCC6):c.63A>G (p.Gln21=) rs772047558 0.00001
NM_000124.4(ERCC6):c.663A>G (p.Pro221=) rs1764722528 0.00001
NM_000124.4(ERCC6):c.723C>T (p.Arg241=) rs148851684 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000124.4(ERCC6):c.789C>T (p.Ile263=) rs753301921 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000124.4(ERCC6):c.843G>A (p.Leu281=) rs1313713726 0.00001
NM_000124.4(ERCC6):c.899C>T (p.Ala300Val) rs373471724 0.00001
NM_000124.4(ERCC6):c.924G>A (p.Val308=) rs553003136 0.00001
NM_000124.4(ERCC6):c.993C>T (p.His331=) rs1192651141 0.00001
NC_000010.10:g.(?_50666861)_(50667300_?)del
NC_000010.10:g.(?_50669378)_(50669622_?)del
NC_000010.10:g.(?_50678218)_(50684366_?)dup
NC_000010.10:g.(?_50678642)_(50681513_?)del
NC_000010.10:g.(?_50701143)_(50714078_?)del
NC_000010.10:g.(?_50708564)_(50714078_?)del
NC_000010.10:g.(?_50713984)_(50716275_?)del
NC_000010.10:g.(?_50738746)_(50741010_?)dup
NC_000010.11:g.49459235del rs2132524052
NM_000124.4(ERCC6):c.*2119C>T
NM_000124.4(ERCC6):c.*232del rs74561842
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.1005C>T (p.Leu335=)
NM_000124.4(ERCC6):c.1008G>A (p.Gln336=)
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1011G>A (p.Lys337=)
NM_000124.4(ERCC6):c.1032G>T (p.Gly344=)
NM_000124.4(ERCC6):c.1033A>T (p.Lys345Ter)
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1035A>G (p.Lys345=) rs758257014
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1046C>T (p.Pro349Leu)
NM_000124.4(ERCC6):c.1050G>A (p.Lys350=)
NM_000124.4(ERCC6):c.1053A>T (p.Ala351=)
NM_000124.4(ERCC6):c.1054A>C (p.Arg352=)
NM_000124.4(ERCC6):c.1054A>G (p.Arg352Gly)
NM_000124.4(ERCC6):c.105T>C (p.Ser35=) rs2132639770
NM_000124.4(ERCC6):c.1060C>A (p.Pro354Thr)
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1066G>T (p.Glu356Ter) rs1837257225
NM_000124.4(ERCC6):c.107G>A (p.Gly36Asp)
NM_000124.4(ERCC6):c.1087G>A (p.Ala363Thr)
NM_000124.4(ERCC6):c.1100_1101del (p.Asp366_Ser367insTer)
NM_000124.4(ERCC6):c.1113G>A (p.Glu371=)
NM_000124.4(ERCC6):c.1116_1125del (p.Glu373fs)
NM_000124.4(ERCC6):c.1119G>A (p.Glu373=)
NM_000124.4(ERCC6):c.111T>C (p.Gly37=) rs752688681
NM_000124.4(ERCC6):c.111del (p.Asp38fs) rs1837504550
NM_000124.4(ERCC6):c.1121A>T (p.Tyr374Phe)
NM_000124.4(ERCC6):c.1128C>A (p.Pro376=)
NM_000124.4(ERCC6):c.1134G>A (p.Glu378=) rs2132620859
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1140G>A (p.Glu380=) rs2132620841
NM_000124.4(ERCC6):c.114T>C (p.Asp38=)
NM_000124.4(ERCC6):c.114T>G (p.Asp38Glu)
NM_000124.4(ERCC6):c.117G>A (p.Gly39=)
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.126G>A (p.Glu42=)
NM_000124.4(ERCC6):c.129G>C (p.Glu43Asp)
NM_000124.4(ERCC6):c.129G>T (p.Glu43Asp) rs1564447267
NM_000124.4(ERCC6):c.135C>A (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1398-17T>G
NM_000124.4(ERCC6):c.1398-18T>G
NM_000124.4(ERCC6):c.1398-19A>G
NM_000124.4(ERCC6):c.1398-19A>T
NM_000124.4(ERCC6):c.1398-3_1398del
NM_000124.4(ERCC6):c.1398-4G>A rs1359877639
NM_000124.4(ERCC6):c.1398-6T>C rs1448696891
NM_000124.4(ERCC6):c.1398-7A>G
NM_000124.4(ERCC6):c.1412_1413del (p.Leu471fs) rs933980617
NM_000124.4(ERCC6):c.1417C>T (p.Leu473=)
NM_000124.4(ERCC6):c.1428A>G (p.Lys476=) rs756131467
NM_000124.4(ERCC6):c.1431_1432del (p.Lys478fs) rs746616255
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1442dup (p.Leu482fs)
NM_000124.4(ERCC6):c.1444C>T (p.Leu482=) rs1487534764
NM_000124.4(ERCC6):c.1445T>G (p.Leu482Arg)
NM_000124.4(ERCC6):c.1446G>A (p.Leu482=) rs1590441626
NM_000124.4(ERCC6):c.1450G>A (p.Asp484Asn)
NM_000124.4(ERCC6):c.1453G>A (p.Asp485Asn)
NM_000124.4(ERCC6):c.145del (p.Ser49fs)
NM_000124.4(ERCC6):c.1471G>A (p.Ala491Thr) rs2132582150
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1499del (p.Pro500fs) rs2132582100
NM_000124.4(ERCC6):c.1505T>G (p.Phe502Cys)
NM_000124.4(ERCC6):c.1507C>G (p.Leu503Val)
NM_000124.4(ERCC6):c.1509G>T (p.Leu503=)
NM_000124.4(ERCC6):c.150G>C (p.Val50=)
NM_000124.4(ERCC6):c.1518G>C (p.Lys506Asn)
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1524T>C (p.Phe508=)
NM_000124.4(ERCC6):c.1526+12A>G
NM_000124.4(ERCC6):c.1526+14G>A
NM_000124.4(ERCC6):c.1526+17C>T
NM_000124.4(ERCC6):c.1526+287T>C rs115385326
NM_000124.4(ERCC6):c.1527-11_1527-8del rs2132575288
NM_000124.4(ERCC6):c.1527-19_1527-18del
NM_000124.4(ERCC6):c.1527-1G>T
NM_000124.4(ERCC6):c.1527-8T>G
NM_000124.4(ERCC6):c.1527G>A (p.Lys509=)
NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn) rs1464456889
NM_000124.4(ERCC6):c.1529A>G (p.Tyr510Cys)
NM_000124.4(ERCC6):c.1534C>T (p.Gln512Ter)
NM_000124.4(ERCC6):c.1540G>C (p.Gly514Arg) rs2132575250
NM_000124.4(ERCC6):c.1541G>T (p.Gly514Val)
NM_000124.4(ERCC6):c.1545T>G (p.Val515=) rs1385035634
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1554G>C (p.Leu518=) rs1590435915
NM_000124.4(ERCC6):c.1566C>T (p.His522=) rs1025844650
NM_000124.4(ERCC6):c.1569C>T (p.Cys523=)
NM_000124.4(ERCC6):c.1572G>A (p.Gln524=)
NM_000124.4(ERCC6):c.1578A>G (p.Ala526=) rs2132575176
NM_000124.4(ERCC6):c.157G>A (p.Gly53Arg)
NM_000124.4(ERCC6):c.1581A>C (p.Gly527=) rs2132575171
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1590G>T (p.Leu530=) rs2132575151
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1599A>G (p.Glu533=) rs1590435858
NM_000124.4(ERCC6):c.1605A>G (p.Gly535=) rs896553981
NM_000124.4(ERCC6):c.1620C>A (p.Ile540=) rs2132575095
NM_000124.4(ERCC6):c.1646T>C (p.Leu549Pro) rs1064795562
NM_000124.4(ERCC6):c.1650C>T (p.Ser550=)
NM_000124.4(ERCC6):c.165C>T (p.Ser55=) rs1201935377
NM_000124.4(ERCC6):c.1665G>A (p.Arg555=)
NM_000124.4(ERCC6):c.1668T>C (p.Thr556=) rs2132575020
NM_000124.4(ERCC6):c.1669C>G (p.Arg557Gly)
NM_000124.4(ERCC6):c.1669C>T (p.Arg557Cys)
NM_000124.4(ERCC6):c.1671T>C (p.Arg557=)
NM_000124.4(ERCC6):c.1672G>A (p.Gly558Ser) rs2132575001
NM_000124.4(ERCC6):c.1674T>C (p.Gly558=) rs2132574990
NM_000124.4(ERCC6):c.1683C>T (p.Tyr561=) rs748973088
NM_000124.4(ERCC6):c.1685+10C>T rs1851338468
NM_000124.4(ERCC6):c.1685+12T>C
NM_000124.4(ERCC6):c.1685+5G>A
NM_000124.4(ERCC6):c.1685+5G>C
NM_000124.4(ERCC6):c.1685+6T>G
NM_000124.4(ERCC6):c.1685+7G>T rs755673576
NM_000124.4(ERCC6):c.1686-13C>T
NM_000124.4(ERCC6):c.1686-19C>T
NM_000124.4(ERCC6):c.1686-4G>A rs1029597946
NM_000124.4(ERCC6):c.168C>T (p.Thr56=) rs927396283
NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter) rs2132565119
NM_000124.4(ERCC6):c.1695G>A (p.Gly565=) rs2132565113
NM_000124.4(ERCC6):c.1698G>A (p.Leu566=)
NM_000124.4(ERCC6):c.1700G>C (p.Gly567Ala)
NM_000124.4(ERCC6):c.1704A>G (p.Pro568=)
NM_000124.4(ERCC6):c.1705A>G (p.Thr569Ala)
NM_000124.4(ERCC6):c.1710A>G (p.Val570=) rs2132565071
NM_000124.4(ERCC6):c.1712T>C (p.Ile571Thr)
NM_000124.4(ERCC6):c.1716C>T (p.Val572=) rs2132565067
NM_000124.4(ERCC6):c.1717_1720del (p.Cys573fs)
NM_000124.4(ERCC6):c.1738C>A (p.Gln580Lys)
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.1748A>G (p.Lys583Arg)
NM_000124.4(ERCC6):c.174T>C (p.Ala58=)
NM_000124.4(ERCC6):c.1750_1751insT (p.Glu584fs) rs2132565021
NM_000124.4(ERCC6):c.1761G>A (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1762T>C (p.Trp588Arg)
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del) rs760919459
NM_000124.4(ERCC6):c.1763G>T (p.Trp588Leu) rs373522295
NM_000124.4(ERCC6):c.1777A>C (p.Arg593=) rs768188064
NM_000124.4(ERCC6):c.1778G>C (p.Arg593Thr)
NM_000124.4(ERCC6):c.1791A>G (p.Leu597=) rs1419275144
NM_000124.4(ERCC6):c.1794_1810del (p.Glu599fs)
NM_000124.4(ERCC6):c.1806C>T (p.Ser602=) rs1851205258
NM_000124.4(ERCC6):c.1813C>T (p.His605Tyr)
NM_000124.4(ERCC6):c.1814A>G (p.His605Arg) rs2132564883
NM_000124.4(ERCC6):c.1817A>G (p.Lys606Arg) rs1437414291
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.1821+10T>C rs2132564830
NM_000124.4(ERCC6):c.1821+15C>T
NM_000124.4(ERCC6):c.1821+17G>A
NM_000124.4(ERCC6):c.1821+18T>C
NM_000124.4(ERCC6):c.1821+6_1821+7inv
NM_000124.4(ERCC6):c.1821+7C>A rs4253132
NM_000124.4(ERCC6):c.1821+7_1821+8inv
NM_000124.4(ERCC6):c.1821+9A>G
NM_000124.4(ERCC6):c.1822-10G>T
NM_000124.4(ERCC6):c.1822-11T>C
NM_000124.4(ERCC6):c.1822-5C>A
NM_000124.4(ERCC6):c.1822-6T>A
NM_000124.4(ERCC6):c.1822-7G>T rs1851019380
NM_000124.4(ERCC6):c.1822-9T>C
NM_000124.4(ERCC6):c.1827A>G (p.Lys609=)
NM_000124.4(ERCC6):c.1840G>A (p.Val614Ile) rs1851018769
NM_000124.4(ERCC6):c.1848T>C (p.His616=)
NM_000124.4(ERCC6):c.184_185del (p.Ala62fs)
NM_000124.4(ERCC6):c.1862del (p.Ile620_Leu621insTer)
NM_000124.4(ERCC6):c.1868_1869dup (p.Ser624fs) rs1307714476
NM_000124.4(ERCC6):c.1869A>G (p.Thr623=)
NM_000124.4(ERCC6):c.186A>G (p.Ala62=) rs2132639489
NM_000124.4(ERCC6):c.1873T>G (p.Tyr625Asp)
NM_000124.4(ERCC6):c.1881C>T (p.Tyr627=)
NM_000124.4(ERCC6):c.1886G>A (p.Arg629Gln)
NM_000124.4(ERCC6):c.1887A>G (p.Arg629=)
NM_000124.4(ERCC6):c.1890G>A (p.Leu630=) rs2132552647
NM_000124.4(ERCC6):c.1894C>T (p.Gln632Ter)
NM_000124.4(ERCC6):c.1898del (p.Asp633fs)
NM_000124.4(ERCC6):c.18C>T (p.Ile6=) rs577145652
NM_000124.4(ERCC6):c.1901A>G (p.Asp634Gly)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>C (p.Tyr642=)
NM_000124.4(ERCC6):c.1929G>A (p.Val643=)
NM_000124.4(ERCC6):c.1932C>T (p.Ile644=)
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)
NM_000124.4(ERCC6):c.1953dup (p.Arg652fs)
NM_000124.4(ERCC6):c.1954C>A (p.Arg652=)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1959T>C (p.Asn653=)
NM_000124.4(ERCC6):c.1969G>T (p.Ala657Ser)
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1983T>C (p.Ala661=)
NM_000124.4(ERCC6):c.198G>A (p.Pro66=) rs2132639471
NM_000124.4(ERCC6):c.1992+15A>T
NM_000124.4(ERCC6):c.1992+16A>G
NM_000124.4(ERCC6):c.1992+16dup
NM_000124.4(ERCC6):c.1992+18A>G
NM_000124.4(ERCC6):c.1992+3A>G rs994372113
NM_000124.4(ERCC6):c.1992+7C>A
NM_000124.4(ERCC6):c.1992+99T>A rs4253163
NM_000124.4(ERCC6):c.1993-15C>T
NM_000124.4(ERCC6):c.1993-16T>A
NM_000124.4(ERCC6):c.1993-17T>C
NM_000124.4(ERCC6):c.1993-19G>A
NM_000124.4(ERCC6):c.1993-20T>G
NM_000124.4(ERCC6):c.1993-5A>C
NM_000124.4(ERCC6):c.1993-7C>G
NM_000124.4(ERCC6):c.1993-8T>C rs2132551932
NM_000124.4(ERCC6):c.2009G>A (p.Arg670Gln)
NM_000124.4(ERCC6):c.2010G>T (p.Arg670=) rs111950756
NM_000124.4(ERCC6):c.2016T>C (p.Ile672=)
NM_000124.4(ERCC6):c.2019G>A (p.Leu673=) rs535929212
NM_000124.4(ERCC6):c.2019G>C (p.Leu673=)
NM_000124.4(ERCC6):c.2019G>T (p.Leu673=) rs535929212
NM_000124.4(ERCC6):c.201G>A (p.Arg67=) rs377611273
NM_000124.4(ERCC6):c.2028A>G (p.Ser676=)
NM_000124.4(ERCC6):c.2029C>T (p.Pro677Ser)
NM_000124.4(ERCC6):c.202A>C (p.Arg68=) rs766264775
NM_000124.4(ERCC6):c.2030C>A (p.Pro677Gln)
NM_000124.4(ERCC6):c.2030C>T (p.Pro677Leu)
NM_000124.4(ERCC6):c.2031G>C (p.Pro677=)
NM_000124.4(ERCC6):c.2036A>C (p.Gln679Pro)
NM_000124.4(ERCC6):c.203G>C (p.Arg68Thr)
NM_000124.4(ERCC6):c.2043C>T (p.Asn681=)
NM_000124.4(ERCC6):c.2046C>T (p.Leu682=) rs2132551813
NM_000124.4(ERCC6):c.204A>G (p.Arg68=)
NM_000124.4(ERCC6):c.2052G>A (p.Glu684=) rs2132551802
NM_000124.4(ERCC6):c.2053C>T (p.Leu685=)
NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000124.4(ERCC6):c.2066_2067del (p.Leu688_Phe689insTer) rs2132551765
NM_000124.4(ERCC6):c.2070C>T (p.Asp690=) rs1462772442
NM_000124.4(ERCC6):c.2076C>T (p.Ile692=)
NM_000124.4(ERCC6):c.207G>A (p.Gly69=) rs2132639428
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2080C>T (p.Pro694Ser)
NM_000124.4(ERCC6):c.2082G>T (p.Pro694=)
NM_000124.4(ERCC6):c.2085A>G (p.Gly695=)
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.2094C>A (p.Gly698=)
NM_000124.4(ERCC6):c.2100G>A (p.Leu700=) rs1445730075
NM_000124.4(ERCC6):c.210A>G (p.Pro70=) rs1837500215
NM_000124.4(ERCC6):c.2115G>A (p.Glu705=) rs2132551687
NM_000124.4(ERCC6):c.2127C>T (p.Val709=)
NM_000124.4(ERCC6):c.2128C>G (p.Pro710Ala)
NM_000124.4(ERCC6):c.2130C>T (p.Pro710=) rs2132551656
NM_000124.4(ERCC6):c.2131A>G (p.Ile711Val) rs2132551652
NM_000124.4(ERCC6):c.2136C>G (p.Thr712=) rs2132551649
NM_000124.4(ERCC6):c.2137A>G (p.Met713Val)
NM_000124.4(ERCC6):c.213C>T (p.Ala71=) rs2132639407
NM_000124.4(ERCC6):c.2142G>A (p.Gly714=)
NM_000124.4(ERCC6):c.2144del (p.Gly715fs)
NM_000124.4(ERCC6):c.2145A>G (p.Gly715=)
NM_000124.4(ERCC6):c.2145A>T (p.Gly715=)
NM_000124.4(ERCC6):c.214C>T (p.Leu72=) rs1429295513
NM_000124.4(ERCC6):c.2163A>G (p.Pro721=) rs139921386
NM_000124.4(ERCC6):c.2169+10T>C
NM_000124.4(ERCC6):c.2169+12G>A
NM_000124.4(ERCC6):c.2169+12G>C
NM_000124.4(ERCC6):c.2169+130_2169+131dup rs571372686
NM_000124.4(ERCC6):c.2169+130_2169+132dup rs571372686
NM_000124.4(ERCC6):c.2169+130dup rs571372686
NM_000124.4(ERCC6):c.2169+13G>A
NM_000124.4(ERCC6):c.2169+16G>A
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2170-10C>A rs2132546963
NM_000124.4(ERCC6):c.2170-11T>C
NM_000124.4(ERCC6):c.2170-17C>A
NM_000124.4(ERCC6):c.2170-18T>A
NM_000124.4(ERCC6):c.2170-20C>T
NM_000124.4(ERCC6):c.2170-8T>A rs1850917640
NM_000124.4(ERCC6):c.2170-97dup rs369906037
NM_000124.4(ERCC6):c.2172C>T (p.Val724=)
NM_000124.4(ERCC6):c.2179G>T (p.Ala727Ser)
NM_000124.4(ERCC6):c.2181T>C (p.Ala727=) rs1414760700
NM_000124.4(ERCC6):c.2191G>A (p.Ala731Thr)
NM_000124.4(ERCC6):c.2191G>T (p.Ala731Ser)
NM_000124.4(ERCC6):c.2199C>T (p.Val733=) rs2132546906
NM_000124.4(ERCC6):c.2203C>G (p.Arg735Gly) rs121917901
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2205A>C (p.Arg735=)
NM_000124.4(ERCC6):c.2206G>A (p.Asp736Asn)
NM_000124.4(ERCC6):c.2220A>G (p.Pro740=)
NM_000124.4(ERCC6):c.2223C>T (p.Tyr741=) rs779302809
NM_000124.4(ERCC6):c.2224_2233del (p.Leu742fs)
NM_000124.4(ERCC6):c.2229G>A (p.Leu743=)
NM_000124.4(ERCC6):c.222C>T (p.His74=)
NM_000124.4(ERCC6):c.2233A>C (p.Arg745=)
NM_000124.4(ERCC6):c.2245G>C (p.Asp749His)
NM_000124.4(ERCC6):c.2247del (p.Asp749fs) rs2132546827
NM_000124.4(ERCC6):c.2250C>G (p.Val750=) rs1850915325
NM_000124.4(ERCC6):c.2250C>T (p.Val750=) rs1850915325
NM_000124.4(ERCC6):c.225C>A (p.Ile75=)
NM_000124.4(ERCC6):c.2261T>C (p.Leu754Pro)
NM_000124.4(ERCC6):c.2266T>C (p.Leu756=)
NM_000124.4(ERCC6):c.2271A>T (p.Pro757=) rs2132546794
NM_000124.4(ERCC6):c.2274T>C (p.Asp758=)
NM_000124.4(ERCC6):c.2283A>G (p.Glu761=) rs2132546787
NM_000124.4(ERCC6):c.2286+11C>T
NM_000124.4(ERCC6):c.2286+14G>A rs1850914477
NM_000124.4(ERCC6):c.2286+17G>C
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2286+1G>T rs1362935450
NM_000124.4(ERCC6):c.2286+20A>G
NM_000124.4(ERCC6):c.2286+2T>C
NM_000124.4(ERCC6):c.2286+5G>A
NM_000124.4(ERCC6):c.2287-11C>G
NM_000124.4(ERCC6):c.2287-12T>C
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2287-4G>C rs375617750
NM_000124.4(ERCC6):c.228C>T (p.Asp76=) rs772019940
NM_000124.4(ERCC6):c.2297G>T (p.Cys766Phe) rs878853067
NM_000124.4(ERCC6):c.2299C>T (p.Arg767Cys)
NM_000124.4(ERCC6):c.2310T>C (p.Asp770=) rs202046174
NM_000124.4(ERCC6):c.2316G>A (p.Gln772=)
NM_000124.4(ERCC6):c.231A>T (p.Arg77=) rs2132639337
NM_000124.4(ERCC6):c.2325C>A (p.Val775=)
NM_000124.4(ERCC6):c.2338G>A (p.Val780Ile)
NM_000124.4(ERCC6):c.233A>G (p.His78Arg)
NM_000124.4(ERCC6):c.2349dup (p.Glu784fs)
NM_000124.4(ERCC6):c.2352A>G (p.Glu784=) rs767691315
NM_000124.4(ERCC6):c.2367C>T (p.Leu789=) rs1850874792
NM_000124.4(ERCC6):c.2372G>A (p.Gly791Glu) rs2132544234
NM_000124.4(ERCC6):c.2372G>T (p.Gly791Val)
NM_000124.4(ERCC6):c.2373A>G (p.Gly791=) rs2132544229
NM_000124.4(ERCC6):c.2382+10A>G rs2132544198
NM_000124.4(ERCC6):c.2382+11A>C
NM_000124.4(ERCC6):c.2382+11A>G
NM_000124.4(ERCC6):c.2382+13dup
NM_000124.4(ERCC6):c.2382+17A>T
NM_000124.4(ERCC6):c.2382+3C>T
NM_000124.4(ERCC6):c.2382+7T>C
NM_000124.4(ERCC6):c.2383-14C>T
NM_000124.4(ERCC6):c.2383-19G>A
NM_000124.4(ERCC6):c.2383-19G>T
NM_000124.4(ERCC6):c.2383-1G>T rs1554787554
NM_000124.4(ERCC6):c.2383-4A>G
NM_000124.4(ERCC6):c.2383-8T>C
NM_000124.4(ERCC6):c.2392G>A (p.Gly798Arg)
NM_000124.4(ERCC6):c.2399T>C (p.Ile800Thr) rs369864700
NM_000124.4(ERCC6):c.2402C>T (p.Ala801Val)
NM_000124.4(ERCC6):c.2421C>T (p.Asn807=) rs1428335944
NM_000124.4(ERCC6):c.2433C>G (p.Leu811=) rs2132541923
NM_000124.4(ERCC6):c.2438C>T (p.Ser813Phe)
NM_000124.4(ERCC6):c.2444G>T (p.Gly815Val)
NM_000124.4(ERCC6):c.2451G>A (p.Lys817=) rs2132541893
NM_000124.4(ERCC6):c.2457C>G (p.Leu819=)
NM_000124.4(ERCC6):c.2459A>G (p.Lys820Arg)
NM_000124.4(ERCC6):c.2461G>A (p.Gly821Ser)
NM_000124.4(ERCC6):c.2466T>A (p.Leu822=) rs2132541873
NM_000124.4(ERCC6):c.2466T>C (p.Leu822=)
NM_000124.4(ERCC6):c.2472T>C (p.Asp824=) rs2132541863
NM_000124.4(ERCC6):c.2475T>C (p.Asp825=)
NM_000124.4(ERCC6):c.2481A>G (p.Leu827=)
NM_000124.4(ERCC6):c.24C>T (p.His8=) rs2132640007
NM_000124.4(ERCC6):c.2508A>G (p.Lys836=) rs2132541825
NM_000124.4(ERCC6):c.2510G>A (p.Arg837His)
NM_000124.4(ERCC6):c.2513C>G (p.Ser838Cys)
NM_000124.4(ERCC6):c.2514T>A (p.Ser838=)
NM_000124.4(ERCC6):c.2520A>G (p.Lys840=) rs1419890684
NM_000124.4(ERCC6):c.2529T>C (p.Val843=)
NM_000124.4(ERCC6):c.2529T>G (p.Val843=)
NM_000124.4(ERCC6):c.2535G>A (p.Glu845=) rs2132541794
NM_000124.4(ERCC6):c.2546A>C (p.Lys849Thr)
NM_000124.4(ERCC6):c.2548A>G (p.Ile850Val)
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.2555A>G (p.His852Arg) rs2132541768
NM_000124.4(ERCC6):c.2559G>A (p.Lys853=) rs868359642
NM_000124.4(ERCC6):c.255del (p.Ser86fs)
NM_000124.4(ERCC6):c.2561A>T (p.Gln854Leu)
NM_000124.4(ERCC6):c.2563G>A (p.Gly855Ser)
NM_000124.4(ERCC6):c.2563G>C (p.Gly855Arg)
NM_000124.4(ERCC6):c.2570G>A (p.Arg857Gln) rs1850831419
NM_000124.4(ERCC6):c.2571A>G (p.Arg857=)
NM_000124.4(ERCC6):c.2577G>A (p.Leu859=) rs2132541730
NM_000124.4(ERCC6):c.2578C>T (p.Leu860=) rs1481948844
NM_000124.4(ERCC6):c.2580G>C (p.Leu860=) rs2132541723
NM_000124.4(ERCC6):c.2583T>C (p.Phe861=)
NM_000124.4(ERCC6):c.2583_2584del (p.Gln863fs)
NM_000124.4(ERCC6):c.2591C>G (p.Ser864Ter)
NM_000124.4(ERCC6):c.2592A>G (p.Ser864=) rs766460731
NM_000124.4(ERCC6):c.2598+10C>A
NM_000124.4(ERCC6):c.2598+10C>T
NM_000124.4(ERCC6):c.2598+15T>G
NM_000124.4(ERCC6):c.2598+1G>C
NM_000124.4(ERCC6):c.2598+7G>T
NM_000124.4(ERCC6):c.2599-13C>A
NM_000124.4(ERCC6):c.2599-13C>G
NM_000124.4(ERCC6):c.2599-13C>T
NM_000124.4(ERCC6):c.2599-15C>T
NM_000124.4(ERCC6):c.2599-16C>T
NM_000124.4(ERCC6):c.2599-18T>C
NM_000124.4(ERCC6):c.2599-19A>G
NM_000124.4(ERCC6):c.2599-1G>C rs2132541141
NM_000124.4(ERCC6):c.2599-26A>C rs4253196
NM_000124.4(ERCC6):c.2599-26A>T
NM_000124.4(ERCC6):c.2602C>T (p.Leu868=) rs2132541133
NM_000124.4(ERCC6):c.2606A>G (p.Asp869Gly)
NM_000124.4(ERCC6):c.2614G>T (p.Glu872Ter)
NM_000124.4(ERCC6):c.2617G>A (p.Val873Ile)
NM_000124.4(ERCC6):c.2617G>T (p.Val873Leu)
NM_000124.4(ERCC6):c.261C>T (p.Ala87=) rs2132639242
NM_000124.4(ERCC6):c.2626A>G (p.Arg876Gly)
NM_000124.4(ERCC6):c.2629G>T (p.Ala877Ser)
NM_000124.4(ERCC6):c.2634A>G (p.Gln878=) rs2132541096
NM_000124.4(ERCC6):c.2639A>G (p.Tyr880Cys)
NM_000124.4(ERCC6):c.2643C>A (p.Thr881=)
NM_000124.4(ERCC6):c.2645A>C (p.Tyr882Ser)
NM_000124.4(ERCC6):c.2648T>G (p.Leu883Arg) rs2132541065
NM_000124.4(ERCC6):c.2650_2665dup (p.Thr889fs) rs779850702
NM_000124.4(ERCC6):c.2651A>G (p.Lys884Arg)
NM_000124.4(ERCC6):c.2658T>C (p.Asp886=) rs2132541056
NM_000124.4(ERCC6):c.2661T>C (p.Gly887=) rs2132541049
NM_000124.4(ERCC6):c.267C>T (p.Ala89=)
NM_000124.4(ERCC6):c.2687C>T (p.Pro896Leu)
NM_000124.4(ERCC6):c.2691G>A (p.Leu897=) rs1850819520
NM_000124.4(ERCC6):c.2698A>C (p.Arg900=)
NM_000124.4(ERCC6):c.2701T>G (p.Tyr901Asp)
NM_000124.4(ERCC6):c.2707G>T (p.Glu903Ter)
NM_000124.4(ERCC6):c.2709+10G>A rs2132540956
NM_000124.4(ERCC6):c.2709+1G>T rs1850818899
NM_000124.4(ERCC6):c.2709+20G>A
NM_000124.4(ERCC6):c.2709+6_2709+7del
NM_000124.4(ERCC6):c.2709+7dup rs1850818728
NM_000124.4(ERCC6):c.2709G>T (p.Glu903Asp)
NM_000124.4(ERCC6):c.273G>A (p.Glu91=)
NM_000124.4(ERCC6):c.276G>C (p.Leu92=) rs1837498240
NM_000124.4(ERCC6):c.276G>T (p.Leu92=) rs1837498240
NM_000124.4(ERCC6):c.27A>C (p.Ser9=)
NM_000124.4(ERCC6):c.2925-17A>G
NM_000124.4(ERCC6):c.2925-2A>T
NM_000124.4(ERCC6):c.2925-3del rs771828895
NM_000124.4(ERCC6):c.2925-8T>G rs147637331
NM_000124.4(ERCC6):c.2925-9dup rs771828895
NM_000124.4(ERCC6):c.2931C>T (p.Ile977=) rs767997161
NM_000124.4(ERCC6):c.2934C>T (p.Phe978=) rs2132538142
NM_000124.4(ERCC6):c.2943T>C (p.Phe981=)
NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs) rs747651923
NM_000124.4(ERCC6):c.2951del (p.Asn984fs) rs2132538134
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.2954G>A (p.Arg985Lys)
NM_000124.4(ERCC6):c.2959C>A (p.Leu987Ile)
NM_000124.4(ERCC6):c.295G>A (p.Val99Ile)
NM_000124.4(ERCC6):c.2961A>G (p.Leu987=)
NM_000124.4(ERCC6):c.2964A>G (p.Lys988=)
NM_000124.4(ERCC6):c.2968C>A (p.Pro990Thr)
NM_000124.4(ERCC6):c.2980C>T (p.Arg994Trp)
NM_000124.4(ERCC6):c.2981G>A (p.Arg994Gln)
NM_000124.4(ERCC6):c.2987dup (p.Lys997fs)
NM_000124.4(ERCC6):c.2990A>C (p.Lys997Thr)
NM_000124.4(ERCC6):c.2994C>T (p.Ser998=)
NM_000124.4(ERCC6):c.3003C>T (p.Leu1001=)
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
NM_000124.4(ERCC6):c.3005A>G (p.Tyr1002Cys)
NM_000124.4(ERCC6):c.3009G>A (p.Glu1003=) rs758877704
NM_000124.4(ERCC6):c.3015T>C (p.Phe1005=)
NM_000124.4(ERCC6):c.3020dup (p.Thr1008fs)
NM_000124.4(ERCC6):c.3021G>T (p.Leu1007=)
NM_000124.4(ERCC6):c.3036A>T (p.Ala1012=)
NM_000124.4(ERCC6):c.303C>T (p.Asp101=) rs1242252442
NM_000124.4(ERCC6):c.3040C>T (p.Gln1014Ter) rs2132537982
NM_000124.4(ERCC6):c.3045C>A (p.Ser1015Arg)
NM_000124.4(ERCC6):c.304C>T (p.Gln102Ter) rs1339834464
NM_000124.4(ERCC6):c.3052del (p.Thr1018fs) rs2132537968
NM_000124.4(ERCC6):c.3057T>C (p.Ser1019=) rs1590406371
NM_000124.4(ERCC6):c.3059del (p.Ala1020fs)
NM_000124.4(ERCC6):c.3070+1G>A rs748423645
NM_000124.4(ERCC6):c.3070+2T>C
NM_000124.4(ERCC6):c.3070+9dup
NM_000124.4(ERCC6):c.3071-12del
NM_000124.4(ERCC6):c.3071-16T>G rs1383048047
NM_000124.4(ERCC6):c.3071-17G>A
NM_000124.4(ERCC6):c.3071-18T>G
NM_000124.4(ERCC6):c.3071-19G>A
NM_000124.4(ERCC6):c.3071-19G>T
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3071-20G>A
NM_000124.4(ERCC6):c.3071-2A>G
NM_000124.4(ERCC6):c.3071-4A>G rs2132537820
NM_000124.4(ERCC6):c.3071-8C>T rs1461042995
NM_000124.4(ERCC6):c.3077G>A (p.Gly1026Glu)
NM_000124.4(ERCC6):c.3080C>G (p.Ser1027Ter)
NM_000124.4(ERCC6):c.3087T>G (p.Val1029=) rs1476500969
NM_000124.4(ERCC6):c.3093A>T (p.Thr1031=) rs2132537770
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
NM_000124.4(ERCC6):c.3108A>G (p.Leu1036=) rs988596074
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3112del (p.Arg1038fs) rs2132537738
NM_000124.4(ERCC6):c.3116G>C (p.Arg1039Thr)
NM_000124.4(ERCC6):c.3129C>A (p.Ala1043=) rs917539053
NM_000124.4(ERCC6):c.3129C>T (p.Ala1043=) rs917539053
NM_000124.4(ERCC6):c.312G>A (p.Val104=)
NM_000124.4(ERCC6):c.3132T>C (p.Phe1044=)
NM_000124.4(ERCC6):c.3135A>C (p.Gly1045=) rs754498044
NM_000124.4(ERCC6):c.3147T>A (p.Asp1049Glu) rs1008107416
NM_000124.4(ERCC6):c.3153A>C (p.Pro1051=)
NM_000124.4(ERCC6):c.3157C>T (p.Arg1053Cys)
NM_000124.4(ERCC6):c.3165G>A (p.Lys1055=)
NM_000124.4(ERCC6):c.3168C>A (p.Phe1056Leu)
NM_000124.4(ERCC6):c.3168C>T (p.Phe1056=)
NM_000124.4(ERCC6):c.3189A>T (p.Val1063=)
NM_000124.4(ERCC6):c.3195T>C (p.Asp1065=)
NM_000124.4(ERCC6):c.3197C>T (p.Ala1066Val)
NM_000124.4(ERCC6):c.3198C>T (p.Ala1066=)
NM_000124.4(ERCC6):c.3201A>C (p.Thr1067=) rs940129413
NM_000124.4(ERCC6):c.3204A>G (p.Ser1068=)
NM_000124.4(ERCC6):c.320_321del (p.Gln107fs)
NM_000124.4(ERCC6):c.3210A>C (p.Glu1070Asp)
NM_000124.4(ERCC6):c.3211G>A (p.Glu1071Lys)
NM_000124.4(ERCC6):c.3214A>G (p.Lys1072Glu) rs2132537563
NM_000124.4(ERCC6):c.3219T>A (p.Ser1073=)
NM_000124.4(ERCC6):c.3223G>A (p.Ala1075Thr)
NM_000124.4(ERCC6):c.3230del (p.Gly1077fs) rs1850762108
NM_000124.4(ERCC6):c.3231dup (p.Ala1078fs)
NM_000124.4(ERCC6):c.3238G>A (p.Val1080Ile)
NM_000124.4(ERCC6):c.3244G>T (p.Ala1082Ser)
NM_000124.4(ERCC6):c.3249A>G (p.Val1083=)
NM_000124.4(ERCC6):c.324A>T (p.Gly108=)
NM_000124.4(ERCC6):c.3252T>A (p.Thr1084=) rs1850761626
NM_000124.4(ERCC6):c.3252T>C (p.Thr1084=) rs1850761626
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.3271T>C (p.Leu1091=) rs1324299242
NM_000124.4(ERCC6):c.3273G>A (p.Leu1091=)
NM_000124.4(ERCC6):c.3274A>G (p.Lys1092Glu)
NM_000124.4(ERCC6):c.3278A>G (p.Asp1093Gly)
NM_000124.4(ERCC6):c.3283C>G (p.Pro1095Ala)
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3284C>T (p.Pro1095Leu)
NM_000124.4(ERCC6):c.3288C>T (p.His1096=) rs773727974
NM_000124.4(ERCC6):c.3288_3289delinsAG (p.His1096_Met1097delinsGlnVal)
NM_000124.4(ERCC6):c.3288_3289inv (p.Met1097Val)
NM_000124.4(ERCC6):c.3297T>C (p.Ser1099=) rs1590405890
NM_000124.4(ERCC6):c.3309C>T (p.Ser1103=)
NM_000124.4(ERCC6):c.3315T>C (p.Asp1105=) rs745341304
NM_000124.4(ERCC6):c.3319C>T (p.Leu1107Phe)
NM_000124.4(ERCC6):c.331C>T (p.Gln111Ter)
NM_000124.4(ERCC6):c.3321T>A (p.Leu1107=) rs1590405847
NM_000124.4(ERCC6):c.3325G>T (p.Glu1109Ter)
NM_000124.4(ERCC6):c.3327A>G (p.Glu1109=)
NM_000124.4(ERCC6):c.3335del (p.Asn1112fs) rs2132537371
NM_000124.4(ERCC6):c.3336T>C (p.Asn1112=) rs1476233620
NM_000124.4(ERCC6):c.3342A>G (p.Val1114=)
NM_000124.4(ERCC6):c.3345T>C (p.Ser1115=) rs4253209
NM_000124.4(ERCC6):c.3351A>G (p.Pro1117=)
NM_000124.4(ERCC6):c.3354A>G (p.Glu1118=) rs751758509
NM_000124.4(ERCC6):c.3357G>A (p.Glu1119=)
NM_000124.4(ERCC6):c.335A>G (p.Gln112Arg)
NM_000124.4(ERCC6):c.3363A>G (p.Ser1121=)
NM_000124.4(ERCC6):c.3371del (p.Ser1124fs) rs2132537341
NM_000124.4(ERCC6):c.3381G>A (p.Gly1127=) rs1410419880
NM_000124.4(ERCC6):c.3381G>C (p.Gly1127=)
NM_000124.4(ERCC6):c.3387T>C (p.Cys1129=) rs2132537313
NM_000124.4(ERCC6):c.3392del (p.Asn1131fs) rs2132537297
NM_000124.4(ERCC6):c.3394T>C (p.Ser1132Pro)
NM_000124.4(ERCC6):c.33A>C (p.Gln11His) rs2132639996
NM_000124.4(ERCC6):c.3408C>T (p.Gly1136=)
NM_000124.4(ERCC6):c.3412A>G (p.Thr1138Ala)
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3414T>C (p.Thr1138=) rs2132537270
NM_000124.4(ERCC6):c.3417_3418insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTAGGAACAGGCAAAACTTCT (p.Ser1139_Met1140insPhePhePhePhePhePheXaaXaaXaaXaaMetAlaSerGlnPheSerGlnHisHisLeuLeuAsnArgGluSerPheProHisCysLeuPhePheSerGlyLeuGlyThrGlyLysThrSer)
NM_000124.4(ERCC6):c.3418A>G (p.Met1140Val)
NM_000124.4(ERCC6):c.3423A>G (p.Pro1141=)
NM_000124.4(ERCC6):c.3430G>A (p.Asp1144Asn)
NM_000124.4(ERCC6):c.3436A>G (p.Ser1146Gly)
NM_000124.4(ERCC6):c.3442G>A (p.Asp1148Asn)
NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter) rs1250248245
NM_000124.4(ERCC6):c.344A>G (p.Asn115Ser)
NM_000124.4(ERCC6):c.344A>T (p.Asn115Ile) rs142097249
NM_000124.4(ERCC6):c.3459T>C (p.Leu1153=)
NM_000124.4(ERCC6):c.345T>C (p.Asn115=) rs1564447043
NM_000124.4(ERCC6):c.3460_3463del (p.Ser1154fs)
NM_000124.4(ERCC6):c.3460dup (p.Ser1154fs)
NM_000124.4(ERCC6):c.3464dup (p.Tyr1155Ter) rs2132537171
NM_000124.4(ERCC6):c.3479C>T (p.Pro1160Leu)
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3480C>T (p.Pro1160=)
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3489T>C (p.Ala1163=)
NM_000124.4(ERCC6):c.348C>T (p.Ala116=)
NM_000124.4(ERCC6):c.3493A>G (p.Thr1165Ala)
NM_000124.4(ERCC6):c.3500C>A (p.Ala1167Asp)
NM_000124.4(ERCC6):c.3500del (p.Ala1167fs)
NM_000124.4(ERCC6):c.3501T>A (p.Ala1167=)
NM_000124.4(ERCC6):c.3501T>C (p.Ala1167=)
NM_000124.4(ERCC6):c.3508G>T (p.Glu1170Ter)
NM_000124.4(ERCC6):c.3510G>A (p.Glu1170=)
NM_000124.4(ERCC6):c.3513T>C (p.Asn1171=) rs2132537092
NM_000124.4(ERCC6):c.351C>T (p.Ile117=)
NM_000124.4(ERCC6):c.3520del (p.Met1174fs) rs1470966288
NM_000124.4(ERCC6):c.3522_3523delinsTT (p.Met1174_Glu1175delinsIleTer) rs2132537076
NM_000124.4(ERCC6):c.3536A>G (p.Tyr1179Cys) rs536757172
NM_000124.4(ERCC6):c.3540G>A (p.Lys1180=)
NM_000124.4(ERCC6):c.3541C>T (p.His1181Tyr)
NM_000124.4(ERCC6):c.3546G>A (p.Lys1182=) rs769594258
NM_000124.4(ERCC6):c.3549A>G (p.Ser1183=) rs1325409838
NM_000124.4(ERCC6):c.3555A>C (p.Thr1185=)
NM_000124.4(ERCC6):c.3555A>G (p.Thr1185=) rs2132536998
NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter) rs1554794590
NM_000124.4(ERCC6):c.3560A>C (p.His1187Pro)
NM_000124.4(ERCC6):c.3564T>C (p.His1188=)
NM_000124.4(ERCC6):c.3564_3565del (p.His1188fs) rs2132536979
NM_000124.4(ERCC6):c.3570G>A (p.Val1190=) rs1590405480
NM_000124.4(ERCC6):c.3579A>G (p.Glu1193=) rs1192560807
NM_000124.4(ERCC6):c.3586C>G (p.Leu1196Val)
NM_000124.4(ERCC6):c.3591G>A (p.Glu1197=)
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3609G>A (p.Lys1203=)
NM_000124.4(ERCC6):c.360C>T (p.Ala120=) rs2132639019
NM_000124.4(ERCC6):c.3611A>C (p.Gln1204Pro)
NM_000124.4(ERCC6):c.3615G>A (p.Lys1205=)
NM_000124.4(ERCC6):c.3621G>A (p.Lys1207=) rs1850751653
NM_000124.4(ERCC6):c.3626_3627del (p.Asn1208_Ser1209insTer)
NM_000124.4(ERCC6):c.3627T>C (p.Ser1209=)
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
NM_000124.4(ERCC6):c.3632A>G (p.His1211Arg)
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.3636_3637inv (p.Arg1213Gly)
NM_000124.4(ERCC6):c.363C>T (p.Ser121=) rs754531332
NM_000124.4(ERCC6):c.3642C>T (p.Asp1214=) rs146493285
NM_000124.4(ERCC6):c.364C>A (p.Arg122Ser) rs374014916
NM_000124.4(ERCC6):c.364C>T (p.Arg122Cys) rs374014916
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.365G>A (p.Arg122His)
NM_000124.4(ERCC6):c.3660T>G (p.Thr1220=) rs746121111
NM_000124.4(ERCC6):c.3662G>A (p.Arg1221Gln)
NM_000124.4(ERCC6):c.3669A>C (p.Pro1223=)
NM_000124.4(ERCC6):c.3672C>T (p.His1224=)
NM_000124.4(ERCC6):c.3678G>T (p.Val1226=) rs2132536749
NM_000124.4(ERCC6):c.367G>A (p.Ala123Thr)
NM_000124.4(ERCC6):c.3684A>G (p.Lys1228=)
NM_000124.4(ERCC6):c.3687G>A (p.Arg1229=)
NM_000124.4(ERCC6):c.3689G>A (p.Arg1230His) rs4253211
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3695A>G (p.Gln1232Arg)
NM_000124.4(ERCC6):c.3700C>G (p.Gln1234Glu)
NM_000124.4(ERCC6):c.3705C>T (p.Asp1235=)
NM_000124.4(ERCC6):c.3710A>T (p.Glu1237Val)
NM_000124.4(ERCC6):c.3714C>G (p.Asn1238Lys)
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs) rs758341467
NM_000124.4(ERCC6):c.3717G>A (p.Lys1239=) rs1205401877
NM_000124.4(ERCC6):c.3719G>C (p.Ser1240Thr)
NM_000124.4(ERCC6):c.3720T>C (p.Ser1240=) rs2132536711
NM_000124.4(ERCC6):c.3721G>A (p.Glu1241Lys)
NM_000124.4(ERCC6):c.3729G>T (p.Lys1243Asn)
NM_000124.4(ERCC6):c.3741T>C (p.Asn1247=) rs1258521189
NM_000124.4(ERCC6):c.3750T>C (p.Tyr1250=)
NM_000124.4(ERCC6):c.3758A>G (p.Glu1253Gly)
NM_000124.4(ERCC6):c.3765T>A (p.Leu1255=) rs748229311
NM_000124.4(ERCC6):c.3768C>T (p.Phe1256=)
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3775T>A (p.Ser1259Thr)
NM_000124.4(ERCC6):c.3776C>G (p.Ser1259Ter)
NM_000124.4(ERCC6):c.3778+11del
NM_000124.4(ERCC6):c.3778+11dup
NM_000124.4(ERCC6):c.3778+15dup
NM_000124.4(ERCC6):c.3778+16C>A
NM_000124.4(ERCC6):c.3778+17G>T
NM_000124.4(ERCC6):c.3778+8A>G rs2132536628
NM_000124.4(ERCC6):c.3778+9T>C rs2132536624
NM_000124.4(ERCC6):c.3779-14T>C
NM_000124.4(ERCC6):c.3779-16_3779-15inv
NM_000124.4(ERCC6):c.3779-17A>G
NM_000124.4(ERCC6):c.3779-1G>A
NM_000124.4(ERCC6):c.3779-20G>A
NM_000124.4(ERCC6):c.3779-5G>T rs1850584184
NM_000124.4(ERCC6):c.3782G>A (p.Gly1261Asp)
NM_000124.4(ERCC6):c.3784G>A (p.Val1262Met)
NM_000124.4(ERCC6):c.3791G>C (p.Ser1264Thr)
NM_000124.4(ERCC6):c.3792T>C (p.Ser1264=)
NM_000124.4(ERCC6):c.37_49del (p.Gln13fs) rs1590492448
NM_000124.4(ERCC6):c.3801G>A (p.Lys1267=)
NM_000124.4(ERCC6):c.3807T>C (p.Asp1269=)
NM_000124.4(ERCC6):c.3811A>G (p.Ile1271Val)
NM_000124.4(ERCC6):c.3819T>C (p.Asp1273=)
NM_000124.4(ERCC6):c.3820G>T (p.Gly1274Ter)
NM_000124.4(ERCC6):c.3821G>T (p.Gly1274Val)
NM_000124.4(ERCC6):c.3832G>A (p.Asp1278Asn)
NM_000124.4(ERCC6):c.3844G>A (p.Val1282Met)
NM_000124.4(ERCC6):c.3867G>A (p.Val1289=)
NM_000124.4(ERCC6):c.3870C>T (p.Ala1290=) rs769975274
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3879C>A (p.Ala1293=)
NM_000124.4(ERCC6):c.3879C>G (p.Ala1293=) rs1401286906
NM_000124.4(ERCC6):c.387G>A (p.Val129=)
NM_000124.4(ERCC6):c.3880_3904del (p.Leu1294fs)
NM_000124.4(ERCC6):c.3886G>T (p.Ala1296Ser)
NM_000124.4(ERCC6):c.3888A>C (p.Ala1296=)
NM_000124.4(ERCC6):c.3897C>G (p.Leu1299=) rs779273831
NM_000124.4(ERCC6):c.389A>G (p.Glu130Gly)
NM_000124.4(ERCC6):c.3900T>C (p.Ser1300=) rs2132526608
NM_000124.4(ERCC6):c.3902G>A (p.Arg1301His)
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3905A>G (p.Gln1302Arg)
NM_000124.4(ERCC6):c.3906G>A (p.Gln1302=)
NM_000124.4(ERCC6):c.3907C>T (p.Arg1303Trp)
NM_000124.4(ERCC6):c.3908G>A (p.Arg1303Gln)
NM_000124.4(ERCC6):c.3908G>T (p.Arg1303Leu)
NM_000124.4(ERCC6):c.3909G>C (p.Arg1303=) rs1850580569
NM_000124.4(ERCC6):c.390G>T (p.Glu130Asp)
NM_000124.4(ERCC6):c.3912T>C (p.Cys1304=) rs1850580461
NM_000124.4(ERCC6):c.3921A>G (p.Ala1307=)
NM_000124.4(ERCC6):c.3924G>A (p.Val1308=) rs1850579886
NM_000124.4(ERCC6):c.3936C>T (p.Pro1312=) rs1441287074
NM_000124.4(ERCC6):c.3939C>T (p.Thr1313=) rs1850579495
NM_000124.4(ERCC6):c.3944C>G (p.Thr1315Ser)
NM_000124.4(ERCC6):c.3944C>T (p.Thr1315Ile) rs2132526499
NM_000124.4(ERCC6):c.3948C>T (p.Gly1316=)
NM_000124.4(ERCC6):c.3954G>A (p.Arg1318=)
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3957dup (p.Ile1320fs)
NM_000124.4(ERCC6):c.3961T>G (p.Ser1321Ala)
NM_000124.4(ERCC6):c.3965G>A (p.Gly1322Asp) rs4253219
NM_000124.4(ERCC6):c.396G>A (p.Glu132=)
NM_000124.4(ERCC6):c.3975A>G (p.Ala1325=) rs2132526442
NM_000124.4(ERCC6):c.3981A>G (p.Lys1327=)
NM_000124.4(ERCC6):c.3983+12C>T
NM_000124.4(ERCC6):c.3983+16A>G
NM_000124.4(ERCC6):c.3983+1G>C
NM_000124.4(ERCC6):c.3983+236T>C rs3810944
NM_000124.4(ERCC6):c.3983+2T>A
NM_000124.4(ERCC6):c.3983dup (p.Ser1329fs) rs760027420
NM_000124.4(ERCC6):c.3984-10C>T
NM_000124.4(ERCC6):c.3984-10_3995del
NM_000124.4(ERCC6):c.3984-15C>G
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.3984-3del
NM_000124.4(ERCC6):c.3984-7T>G rs2132525414
NM_000124.4(ERCC6):c.3986G>T (p.Ser1329Ile)
NM_000124.4(ERCC6):c.3990A>G (p.Arg1330=)
NM_000124.4(ERCC6):c.39G>A (p.Gln13=) rs899569063
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4002A>G (p.Lys1334=)
NM_000124.4(ERCC6):c.4004G>C (p.Arg1335Thr)
NM_000124.4(ERCC6):c.4007A>G (p.Asn1336Ser)
NM_000124.4(ERCC6):c.400C>A (p.Arg134=)
NM_000124.4(ERCC6):c.4011T>C (p.Ser1337=)
NM_000124.4(ERCC6):c.4017del (p.Ser1340fs)
NM_000124.4(ERCC6):c.401G>A (p.Arg134Gln)
NM_000124.4(ERCC6):c.4023G>A (p.Val1341=) rs1850561690
NM_000124.4(ERCC6):c.4028A>G (p.His1343Arg)
NM_000124.4(ERCC6):c.4034C>G (p.Ser1345Ter)
NM_000124.4(ERCC6):c.4035A>G (p.Ser1345=)
NM_000124.4(ERCC6):c.4037C>G (p.Ser1346Ter) rs2132525337
NM_000124.4(ERCC6):c.4038A>G (p.Ser1346=)
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
NM_000124.4(ERCC6):c.4044T>G (p.Ser1348=) rs1590396950
NM_000124.4(ERCC6):c.4056G>A (p.Lys1352=)
NM_000124.4(ERCC6):c.405G>C (p.Ser135=) rs773706080
NM_000124.4(ERCC6):c.4060C>T (p.Gln1354Ter) rs1223670390
NM_000124.4(ERCC6):c.4062+10A>G
NM_000124.4(ERCC6):c.4062+11T>C
NM_000124.4(ERCC6):c.4062+14C>A rs540141675
NM_000124.4(ERCC6):c.4062+14C>T
NM_000124.4(ERCC6):c.4062+15del
NM_000124.4(ERCC6):c.4062+16T>A
NM_000124.4(ERCC6):c.4062+19T>G
NM_000124.4(ERCC6):c.4062+7T>C rs925891924
NM_000124.4(ERCC6):c.4063-10_4063-8del
NM_000124.4(ERCC6):c.4063-12T>G
NM_000124.4(ERCC6):c.4063-14T>C
NM_000124.4(ERCC6):c.4063-16G>A
NM_000124.4(ERCC6):c.4063-274C>T rs4253225
NM_000124.4(ERCC6):c.4063-2A>C rs1554873833
NM_000124.4(ERCC6):c.4063-4A>G
NM_000124.4(ERCC6):c.4064A>T (p.Asp1355Val)
NM_000124.4(ERCC6):c.4065T>C (p.Asp1355=) rs34917815
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.4073_4079dup (p.Lys1360fs)
NM_000124.4(ERCC6):c.4077A>G (p.Lys1359=) rs55838288
NM_000124.4(ERCC6):c.4086A>G (p.Gly1362=)
NM_000124.4(ERCC6):c.4095T>C (p.Asn1365=) rs150277901
NM_000124.4(ERCC6):c.4096G>A (p.Val1366Ile) rs745758957
NM_000124.4(ERCC6):c.4098C>G (p.Val1366=) rs2132523993
NM_000124.4(ERCC6):c.4115del (p.Gly1372fs) rs2132523961
NM_000124.4(ERCC6):c.4117A>C (p.Arg1373=) rs1195946913
NM_000124.4(ERCC6):c.4120G>C (p.Ala1374Pro)
NM_000124.4(ERCC6):c.4128T>C (p.Asp1376=) rs1554873812
NM_000124.4(ERCC6):c.4129G>A (p.Ala1377Thr) rs781538914
NM_000124.4(ERCC6):c.412G>A (p.Asp138Asn)
NM_000124.4(ERCC6):c.4131A>G (p.Ala1377=)
NM_000124.4(ERCC6):c.4134C>T (p.Asp1378=) rs755154783
NM_000124.4(ERCC6):c.4137T>C (p.Ser1379=) rs1055848255
NM_000124.4(ERCC6):c.4140A>C (p.Ser1380=)
NM_000124.4(ERCC6):c.4146G>A (p.Gly1382=) rs1043213652
NM_000124.4(ERCC6):c.4150C>T (p.Leu1384Phe)
NM_000124.4(ERCC6):c.4152C>G (p.Leu1384=) rs765804876
NM_000124.4(ERCC6):c.4152C>T (p.Leu1384=) rs765804876
NM_000124.4(ERCC6):c.4153G>A (p.Ala1385Thr)
NM_000124.4(ERCC6):c.4154C>A (p.Ala1385Asp)
NM_000124.4(ERCC6):c.4155T>C (p.Ala1385=) rs2132523876
NM_000124.4(ERCC6):c.417C>T (p.Asp139=) rs1471171212
NM_000124.4(ERCC6):c.4184C>T (p.Ala1395Val)
NM_000124.4(ERCC6):c.4191C>T (p.Asn1397=)
NM_000124.4(ERCC6):c.4194C>T (p.His1398=)
NM_000124.4(ERCC6):c.4196T>A (p.Leu1399Gln)
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
NM_000124.4(ERCC6):c.4208A>T (p.Glu1403Val)
NM_000124.4(ERCC6):c.420C>T (p.Leu140=)
NM_000124.4(ERCC6):c.422+10G>A
NM_000124.4(ERCC6):c.422+10G>C rs2132638793
NM_000124.4(ERCC6):c.422+10G>T
NM_000124.4(ERCC6):c.422+11C>T
NM_000124.4(ERCC6):c.422+16C>T
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.422+20T>G
NM_000124.4(ERCC6):c.422+20_422+22del
NM_000124.4(ERCC6):c.422+7G>A rs2132638800
NM_000124.4(ERCC6):c.422+8C>T
NM_000124.4(ERCC6):c.4220G>A (p.Ser1407Asn)
NM_000124.4(ERCC6):c.4221T>G (p.Ser1407Arg)
NM_000124.4(ERCC6):c.4227C>T (p.Ser1409=)
NM_000124.4(ERCC6):c.4228G>A (p.Gly1410Arg)
NM_000124.4(ERCC6):c.423-12dup
NM_000124.4(ERCC6):c.423-14A>G
NM_000124.4(ERCC6):c.423-18A>G
NM_000124.4(ERCC6):c.423-19A>C
NM_000124.4(ERCC6):c.423-1G>A rs1364973121
NM_000124.4(ERCC6):c.423-2A>C
NM_000124.4(ERCC6):c.423-2A>G rs2132635786
NM_000124.4(ERCC6):c.423-4T>A
NM_000124.4(ERCC6):c.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.423-8T>C rs938400192
NM_000124.4(ERCC6):c.423-9A>G
NM_000124.4(ERCC6):c.4232A>G (p.His1411Arg)
NM_000124.4(ERCC6):c.4233C>T (p.His1411=)
NM_000124.4(ERCC6):c.4236G>T (p.Leu1412=)
NM_000124.4(ERCC6):c.4239G>A (p.Gln1413=)
NM_000124.4(ERCC6):c.4244C>G (p.Ala1415Gly) rs1850529668
NM_000124.4(ERCC6):c.4251C>T (p.Ala1417=)
NM_000124.4(ERCC6):c.4257G>A (p.Leu1419=)
NM_000124.4(ERCC6):c.4261A>G (p.Thr1421Ala)
NM_000124.4(ERCC6):c.4266A>C (p.Thr1422=) rs2132523693
NM_000124.4(ERCC6):c.4272C>G (p.His1424Gln)
NM_000124.4(ERCC6):c.4273G>A (p.Asp1425Asn)
NM_000124.4(ERCC6):c.427T>C (p.Cys143Arg)
NM_000124.4(ERCC6):c.4282C>T (p.Leu1428=)
NM_000124.4(ERCC6):c.4284G>T (p.Leu1428=)
NM_000124.4(ERCC6):c.4287G>A (p.Val1429=)
NM_000124.4(ERCC6):c.4292T>C (p.Met1431Thr)
NM_000124.4(ERCC6):c.4297A>C (p.Asn1433His) rs2132523657
NM_000124.4(ERCC6):c.4298A>G (p.Asn1433Ser)
NM_000124.4(ERCC6):c.4317C>G (p.Ala1439=)
NM_000124.4(ERCC6):c.4323T>C (p.Thr1441=) rs2132523595
NM_000124.4(ERCC6):c.432G>A (p.Thr144=) rs775786952
NM_000124.4(ERCC6):c.432G>C (p.Thr144=) rs775786952
NM_000124.4(ERCC6):c.4338C>T (p.Ser1446=)
NM_000124.4(ERCC6):c.4339A>G (p.Thr1447Ala)
NM_000124.4(ERCC6):c.433A>G (p.Thr145Ala)
NM_000124.4(ERCC6):c.4341C>T (p.Thr1447=)
NM_000124.4(ERCC6):c.4351C>G (p.Leu1451Val)
NM_000124.4(ERCC6):c.4355A>G (p.Gln1452Arg) rs756484672
NM_000124.4(ERCC6):c.4368C>G (p.Ser1456=)
NM_000124.4(ERCC6):c.4368C>T (p.Ser1456=)
NM_000124.4(ERCC6):c.4383A>C (p.Ser1461=)
NM_000124.4(ERCC6):c.4383A>G (p.Ser1461=)
NM_000124.4(ERCC6):c.4389T>C (p.Ser1463=)
NM_000124.4(ERCC6):c.438C>A (p.Ser146=)
NM_000124.4(ERCC6):c.4392T>C (p.Cys1464=) rs1456486273
NM_000124.4(ERCC6):c.4395C>T (p.Val1465=) rs1850526265
NM_000124.4(ERCC6):c.439dup (p.Leu147fs)
NM_000124.4(ERCC6):c.43C>T (p.Gln15Ter)
NM_000124.4(ERCC6):c.4408T>C (p.Leu1470=)
NM_000124.4(ERCC6):c.4415del (p.Asn1472fs) rs1131691890
NM_000124.4(ERCC6):c.4419G>A (p.Leu1473=) rs2132523465
NM_000124.4(ERCC6):c.4419G>C (p.Leu1473=) rs2132523465
NM_000124.4(ERCC6):c.4422C>T (p.Cys1474=) rs1850525811
NM_000124.4(ERCC6):c.4427T>C (p.Phe1476Ser)
NM_000124.4(ERCC6):c.4437T>C (p.Thr1479=)
NM_000124.4(ERCC6):c.4440T>C (p.Ser1480=)
NM_000124.4(ERCC6):c.4449A>G (p.Glu1483=) rs2132523427
NM_000124.4(ERCC6):c.4453A>G (p.Ile1485Val) rs772426762
NM_000124.4(ERCC6):c.445C>T (p.Gln149Ter) rs2132635739
NM_000124.4(ERCC6):c.4460A>C (p.Lys1487Thr) rs2132523419
NM_000124.4(ERCC6):c.448A>G (p.Ile150Val)
NM_000124.4(ERCC6):c.452A>G (p.Asn151Ser)
NM_000124.4(ERCC6):c.460A>G (p.Ile154Val)
NM_000124.4(ERCC6):c.465A>G (p.Glu155=)
NM_000124.4(ERCC6):c.474C>T (p.Ser158=)
NM_000124.4(ERCC6):c.475C>T (p.Pro159Ser)
NM_000124.4(ERCC6):c.477T>G (p.Pro159=)
NM_000124.4(ERCC6):c.480A>G (p.Gln160=) rs769850417
NM_000124.4(ERCC6):c.498C>T (p.Asp166=)
NM_000124.4(ERCC6):c.50_51del (p.Cys17fs)
NM_000124.4(ERCC6):c.525A>G (p.Lys175=)
NM_000124.4(ERCC6):c.526C>A (p.Arg176=) rs771781694
NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln) rs1442811418
NM_000124.4(ERCC6):c.534G>A (p.Lys178=) rs2132635497
NM_000124.4(ERCC6):c.537T>C (p.Tyr179=)
NM_000124.4(ERCC6):c.537dup (p.Asn180Ter) rs2132635486
NM_000124.4(ERCC6):c.543+14A>G
NM_000124.4(ERCC6):c.543+15C>T
NM_000124.4(ERCC6):c.543+16A>G
NM_000124.4(ERCC6):c.543+17_543+20del
NM_000124.4(ERCC6):c.543+20A>T
NM_000124.4(ERCC6):c.543+7C>G
NM_000124.4(ERCC6):c.543+7C>T rs769491240
NM_000124.4(ERCC6):c.544-14A>G
NM_000124.4(ERCC6):c.544-16A>G
NM_000124.4(ERCC6):c.544-19T>G
NM_000124.4(ERCC6):c.544-1G>A rs901360414
NM_000124.4(ERCC6):c.544-20T>C
NM_000124.4(ERCC6):c.544-4C>T
NM_000124.4(ERCC6):c.544-6T>C
NM_000124.4(ERCC6):c.544-9C>T
NM_000124.4(ERCC6):c.549A>G (p.Gln183=) rs2132631602
NM_000124.4(ERCC6):c.54A>T (p.Leu18Phe)
NM_000124.4(ERCC6):c.550C>T (p.Gln184Ter) rs1272962297
NM_000124.4(ERCC6):c.554T>C (p.Leu185Pro)
NM_000124.4(ERCC6):c.555A>G (p.Leu185=) rs769733106
NM_000124.4(ERCC6):c.555A>T (p.Leu185=) rs769733106
NM_000124.4(ERCC6):c.55C>T (p.Gln19Ter) rs1436103479
NM_000124.4(ERCC6):c.561G>A (p.Lys187=)
NM_000124.4(ERCC6):c.573A>G (p.Lys191=)
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.579G>A (p.Lys193=)
NM_000124.4(ERCC6):c.581A>G (p.His194Arg)
NM_000124.4(ERCC6):c.583C>T (p.Leu195Phe)
NM_000124.4(ERCC6):c.585C>T (p.Leu195=) rs2132631506
NM_000124.4(ERCC6):c.588G>A (p.Gln196=) rs1336473788
NM_000124.4(ERCC6):c.591C>T (p.Ala197=)
NM_000124.4(ERCC6):c.594C>G (p.Ile198Met)
NM_000124.4(ERCC6):c.597T>C (p.Leu199=) rs2132631466
NM_000124.4(ERCC6):c.59G>A (p.Ser20Asn)
NM_000124.4(ERCC6):c.5del (p.Pro2fs)
NM_000124.4(ERCC6):c.605C>G (p.Ala202Gly)
NM_000124.4(ERCC6):c.606A>G (p.Ala202=) rs2132631451
NM_000124.4(ERCC6):c.612G>A (p.Val204=) rs2132631443
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.621A>G (p.Glu207=) rs2132631402
NM_000124.4(ERCC6):c.631G>A (p.Ala211Thr)
NM_000124.4(ERCC6):c.632C>T (p.Ala211Val)
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.644A>C (p.Glu215Ala)
NM_000124.4(ERCC6):c.649G>A (p.Ala217Thr)
NM_000124.4(ERCC6):c.652+7A>T rs2132631310
NM_000124.4(ERCC6):c.652+8T>C rs2132631304
NM_000124.4(ERCC6):c.653-10_653-8del
NM_000124.4(ERCC6):c.653-14T>C
NM_000124.4(ERCC6):c.653-16G>A
NM_000124.4(ERCC6):c.653-17T>C
NM_000124.4(ERCC6):c.653-19A>G
NM_000124.4(ERCC6):c.653-2A>G rs1837271887
NM_000124.4(ERCC6):c.653-6T>C
NM_000124.4(ERCC6):c.653-7C>G
NM_000124.4(ERCC6):c.657G>A (p.Pro219=) rs761303700
NM_000124.4(ERCC6):c.660G>A (p.Gly220=) rs1297704330
NM_000124.4(ERCC6):c.660G>C (p.Gly220=)
NM_000124.4(ERCC6):c.660del (p.Pro221fs)
NM_000124.4(ERCC6):c.667A>G (p.Ser223Gly)
NM_000124.4(ERCC6):c.66T>G (p.Pro22=) rs2132639871
NM_000124.4(ERCC6):c.672T>G (p.Leu224=)
NM_000124.4(ERCC6):c.675C>T (p.Gly225=)
NM_000124.4(ERCC6):c.67G>A (p.Val23Ile) rs1196976745
NM_000124.4(ERCC6):c.684C>A (p.Leu228=)
NM_000124.4(ERCC6):c.684C>T (p.Leu228=) rs2132622081
NM_000124.4(ERCC6):c.690T>C (p.Pro230=)
NM_000124.4(ERCC6):c.692T>C (p.Val231Ala)
NM_000124.4(ERCC6):c.697G>A (p.Glu233Lys) rs965743464
NM_000124.4(ERCC6):c.709G>T (p.Glu237Ter)
NM_000124.4(ERCC6):c.720C>A (p.Ile240=) rs2132622005
NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser) rs1837269364
NM_000124.4(ERCC6):c.726T>C (p.Thr242=)
NM_000124.4(ERCC6):c.733A>G (p.Met245Val)
NM_000124.4(ERCC6):c.733A>T (p.Met245Leu)
NM_000124.4(ERCC6):c.738A>G (p.Thr246=)
NM_000124.4(ERCC6):c.741T>A (p.Pro247=) rs769157895
NM_000124.4(ERCC6):c.741T>C (p.Pro247=)
NM_000124.4(ERCC6):c.750C>A (p.Thr250=)
NM_000124.4(ERCC6):c.752A>G (p.Gln251Arg)
NM_000124.4(ERCC6):c.765A>G (p.Lys255=) rs2132621854
NM_000124.4(ERCC6):c.768G>A (p.Gln256=) rs1340061966
NM_000124.4(ERCC6):c.76A>G (p.Asn26Asp)
NM_000124.4(ERCC6):c.774A>G (p.Lys258=) rs533325137
NM_000124.4(ERCC6):c.777G>A (p.Lys259=)
NM_000124.4(ERCC6):c.777_787del (p.Lys259fs)
NM_000124.4(ERCC6):c.779C>T (p.Pro260Leu)
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.780C>G (p.Pro260=)
NM_000124.4(ERCC6):c.783A>G (p.Arg261=)
NM_000124.4(ERCC6):c.78T>C (p.Asn26=)
NM_000124.4(ERCC6):c.78_81del (p.Asn26fs)
NM_000124.4(ERCC6):c.795T>G (p.Leu265=) rs113887203
NM_000124.4(ERCC6):c.798T>C (p.Asn266=)
NM_000124.4(ERCC6):c.801A>G (p.Glu267=) rs752544511
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
NM_000124.4(ERCC6):c.805T>A (p.Ser269Thr)
NM_000124.4(ERCC6):c.808G>A (p.Gly270Ser) rs773581901
NM_000124.4(ERCC6):c.809_810delinsAT (p.Gly270Asp) rs1564442704
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000124.4(ERCC6):c.810C>G (p.Gly270=)
NM_000124.4(ERCC6):c.811T>C (p.Phe271Leu)
NM_000124.4(ERCC6):c.814G>T (p.Glu272Ter)
NM_000124.4(ERCC6):c.819G>A (p.Lys273=) rs1590475348
NM_000124.4(ERCC6):c.837A>G (p.Ala279=)
NM_000124.4(ERCC6):c.837A>T (p.Ala279=)
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.857A>G (p.Lys286Arg)
NM_000124.4(ERCC6):c.85A>G (p.Met29Val) rs2132639823
NM_000124.4(ERCC6):c.861G>A (p.Lys287=) rs748914335
NM_000124.4(ERCC6):c.864A>G (p.Gln288=) rs1564442625
NM_000124.4(ERCC6):c.868T>G (p.Cys290Gly)
NM_000124.4(ERCC6):c.869G>T (p.Cys290Phe)
NM_000124.4(ERCC6):c.883G>A (p.Ala295Thr)
NM_000124.4(ERCC6):c.88del (p.Ala30fs) rs1309255175
NM_000124.4(ERCC6):c.891A>G (p.Lys297=) rs2132621479
NM_000124.4(ERCC6):c.895C>T (p.Pro299Ser)
NM_000124.4(ERCC6):c.897A>G (p.Pro299=)
NM_000124.4(ERCC6):c.900C>T (p.Ala300=) rs2132621456
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.906C>G (p.Val302=) rs2132621442
NM_000124.4(ERCC6):c.908C>T (p.Thr303Met)
NM_000124.4(ERCC6):c.909G>A (p.Thr303=) rs371906160
NM_000124.4(ERCC6):c.90A>G (p.Ala30=)
NM_000124.4(ERCC6):c.912T>G (p.Pro304=) rs2132621413
NM_000124.4(ERCC6):c.915A>G (p.Pro305=)
NM_000124.4(ERCC6):c.918C>A (p.Ala306=)
NM_000124.4(ERCC6):c.921A>C (p.Pro307=) rs2132621374
NM_000124.4(ERCC6):c.921A>G (p.Pro307=)
NM_000124.4(ERCC6):c.921A>T (p.Pro307=)
NM_000124.4(ERCC6):c.927A>G (p.Gln309=) rs2132621346
NM_000124.4(ERCC6):c.942A>G (p.Pro314=) rs1837261383
NM_000124.4(ERCC6):c.94A>T (p.Lys32Ter)
NM_000124.4(ERCC6):c.958del (p.Val320fs)
NM_000124.4(ERCC6):c.961C>T (p.Leu321=) rs1277366295
NM_000124.4(ERCC6):c.963G>A (p.Leu321=)
NM_000124.4(ERCC6):c.96G>A (p.Lys32=)
NM_000124.4(ERCC6):c.974A>C (p.Glu325Ala)
NM_000124.4(ERCC6):c.979C>T (p.Arg327Cys)
NM_000124.4(ERCC6):c.97C>A (p.Gln33Lys)
NM_000124.4(ERCC6):c.980G>A (p.Arg327His)
NM_000124.4(ERCC6):c.984G>A (p.Leu328=)

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