ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 714
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.6330+19G>A rs5745025 0.01268
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.-29C>G rs571026345 0.00281
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.3379-12C>T rs187618435 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6006G>A (p.Ala2002=) rs146902214 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_006231.4(POLE):c.3922C>T (p.Arg1308Trp) rs763854815 0.00017
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.2487G>A (p.Met829Ile) rs372109189 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.718G>A (p.Val240Met) rs371882716 0.00010
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_006231.4(POLE):c.314A>G (p.Tyr105Cys) rs1451750169 0.00009
NM_006231.4(POLE):c.3229C>T (p.Arg1077Cys) rs149777592 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala) rs147088333 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr) rs150032060 0.00008
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.2639C>T (p.Thr880Met) rs1337524033 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) rs531705054 0.00007
NM_006231.4(POLE):c.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_006231.4(POLE):c.2039G>A (p.Arg680His) rs763522976 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.5516G>A (p.Arg1839His) rs370512955 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.2818A>G (p.Met940Val) rs148382941 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.5206G>A (p.Val1736Ile) rs770181299 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.686A>C (p.His229Pro) rs1482513360 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1264C>T (p.His422Tyr) rs745356467 0.00004
NM_006231.4(POLE):c.1336C>T (p.Arg446Trp) rs200403177 0.00004
NM_006231.4(POLE):c.1411A>G (p.Met471Val) rs749021187 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.20G>A (p.Gly7Glu) rs929537284 0.00004
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.3379-18C>T rs1057517632 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile) rs138443282 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp) rs764904030 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg) rs138094751 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.909G>C (p.Gln303His) rs779801916 0.00004
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys) rs199746481 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.1641C>A (p.Leu547=) rs267603387 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.301A>G (p.Lys101Glu) rs560654523 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val) rs373707446 0.00003
NM_006231.4(POLE):c.3668C>T (p.Pro1223Leu) rs766806062 0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu) rs572986717 0.00003
NM_006231.4(POLE):c.4106A>G (p.Asn1369Ser) rs746524982 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.4799T>C (p.Ile1600Thr) rs945434123 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5797A>G (p.Ile1933Val) rs758762868 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.6119C>T (p.Ala2040Val) rs5745021 0.00003
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=) rs201656807 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.1181A>G (p.Gln394Arg) rs1014444345 0.00002
NM_006231.4(POLE):c.1277C>T (p.Ala426Val) rs374920539 0.00002
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.1949C>T (p.Thr650Ile) rs115559742 0.00002
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp) rs367902268 0.00002
NM_006231.4(POLE):c.2343G>A (p.Ala781=) rs199751241 0.00002
NM_006231.4(POLE):c.2888G>A (p.Gly963Asp) rs777454763 0.00002
NM_006231.4(POLE):c.302A>G (p.Lys101Arg) rs1016258970 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu) rs372057971 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3919A>G (p.Ile1307Val) rs1000912264 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly) rs372504703 0.00002
NM_006231.4(POLE):c.626A>G (p.Lys209Arg) rs754559038 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln) rs762044635 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.876G>T (p.Gln292His) rs1324298673 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) rs1048183984 0.00001
NM_006231.4(POLE):c.1070C>T (p.Thr357Ile) rs2043035482 0.00001
NM_006231.4(POLE):c.1078G>A (p.Val360Ile) rs1315083272 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1124G>A (p.Arg375Gln) rs778572159 0.00001
NM_006231.4(POLE):c.1193A>G (p.Lys398Arg) rs1402549512 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1346C>T (p.Thr449Met) rs780299012 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1370C>T (p.Thr457Met) rs878854842 0.00001
NM_006231.4(POLE):c.1378G>A (p.Val460Met) rs753586583 0.00001
NM_006231.4(POLE):c.1384G>A (p.Asp462Asn) rs765946486 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.1447A>G (p.Thr483Ala) rs777736640 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.1524G>T (p.Gln508His) rs762030811 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1591G>A (p.Gly531Arg) rs748489355 0.00001
NM_006231.4(POLE):c.1687-3T>G rs148115738 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1935G>A (p.Met645Ile) rs561707898 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 0.00001
NM_006231.4(POLE):c.2114G>A (p.Arg705Gln) rs773738016 0.00001
NM_006231.4(POLE):c.2123A>G (p.His708Arg) rs2042844365 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.2275C>T (p.Arg759Cys) rs759398253 0.00001
NM_006231.4(POLE):c.229C>T (p.Arg77Cys) rs1060500889 0.00001
NM_006231.4(POLE):c.2327A>G (p.Lys776Arg) rs375791061 0.00001
NM_006231.4(POLE):c.2335C>T (p.Leu779Phe) rs747478766 0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2562-5T>G rs1461925348 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2706+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.271G>A (p.Gly91Arg) rs1316316435 0.00001
NM_006231.4(POLE):c.2963C>T (p.Ser988Leu) rs138391248 0.00001
NM_006231.4(POLE):c.3061-12G>C rs779496994 0.00001
NM_006231.4(POLE):c.3109C>T (p.Arg1037Cys) rs948001596 0.00001
NM_006231.4(POLE):c.320C>T (p.Ala107Val) rs878854860 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.3401T>C (p.Ile1134Thr) rs1054915845 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.3938C>T (p.Thr1313Met) rs949243552 0.00001
NM_006231.4(POLE):c.4006-3C>T rs1593748957 0.00001
NM_006231.4(POLE):c.4027G>A (p.Gly1343Ser) rs556821288 0.00001
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.4144C>T (p.Arg1382Cys) rs5744904 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.4336G>C (p.Val1446Leu) rs878854869 0.00001
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter) rs747449574 0.00001
NM_006231.4(POLE):c.44C>T (p.Ala15Val) rs1565986587 0.00001
NM_006231.4(POLE):c.452A>G (p.Asn151Ser) rs969812647 0.00001
NM_006231.4(POLE):c.4602C>T (p.His1534=) rs749126952 0.00001
NM_006231.4(POLE):c.4609C>T (p.Leu1537Phe) rs1418237375 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr) rs752184541 0.00001
NM_006231.4(POLE):c.4952+4A>G rs962068207 0.00001
NM_006231.4(POLE):c.4970T>C (p.Ile1657Thr) rs1060500827 0.00001
NM_006231.4(POLE):c.4996A>G (p.Thr1666Ala) rs761329946 0.00001
NM_006231.4(POLE):c.5023C>T (p.Arg1675Cys) rs1027297469 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5036G>A (p.Arg1679His) rs748940418 0.00001
NM_006231.4(POLE):c.5046C>T (p.His1682=) rs769284070 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5152A>G (p.Ser1718Gly) rs374381852 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.5371A>G (p.Thr1791Ala) rs775102459 0.00001
NM_006231.4(POLE):c.5379-5T>C rs761910924 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5492T>C (p.Leu1831Pro) rs781674901 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.577A>G (p.Ser193Gly) rs760588718 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu) rs757480645 0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn) rs905858506 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu) rs1064796126 0.00001
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala) rs370363095 0.00001
NM_006231.4(POLE):c.6325T>C (p.Cys2109Arg) rs1387352431 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.664C>T (p.Arg222Cys) rs767503360 0.00001
NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys) rs765125852 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.725A>G (p.His242Arg) rs767612904 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.805C>G (p.Pro269Ala) rs757438555 0.00001
NM_006231.4(POLE):c.811G>A (p.Val271Ile) rs2043060448 0.00001
NM_006231.4(POLE):c.882G>A (p.Met294Ile) rs774328855 0.00001
NM_006231.4(POLE):c.893A>G (p.Tyr298Cys) rs2043057513 0.00001
NM_006231.4(POLE):c.895A>G (p.Met299Val) rs370727992 0.00001
NM_006231.4(POLE):c.901G>A (p.Asp301Asn) rs1060500882 0.00001
NM_006231.4(POLE):c.902A>G (p.Asp301Gly) rs1060500828 0.00001
NM_006231.4(POLE):c.907C>T (p.Gln303Ter) rs749117997 0.00001
NM_006231.4(POLE):c.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.974A>G (p.Lys325Arg) rs1555229291 0.00001
NC_000012.11:g.(?_132414268)_(133263901_?)dup
NC_000012.11:g.(?_133201273)_(133263911_?)dup
NC_000012.11:g.(?_133210752)_(133210984_?)dup
NC_000012.11:g.(?_133210817)_(133211013_?)dup
NC_000012.11:g.(?_133222176)_133226475del
NC_000012.11:g.(?_133233722)_(133263945_?)dup
NC_000012.11:g.(?_133237549)_(133263907_?)dup
NC_000012.11:g.(?_133240580)_(133263911_?)dup
NC_000012.11:g.(?_133252670)_(133263901_?)del
NC_000012.11:g.(?_133263830)_(133263901_?)del
NC_000012.11:g.(?_133263830)_(133263911_?)dup
NC_000012.11:g.(?_133263834)_(133263907_?)del
NC_000012.12:g.(?_132624677)_(132687335_?)dup
NC_000012.12:g.(?_132624687)_(132626327_?)del
NC_000012.12:g.(?_132624687)_(132626327_?)dup
NC_000012.12:g.(?_132624687)_(132632805_?)dup
NC_000012.12:g.(?_132624687)_(132673717_?)del
NC_000012.12:g.(?_132624687)_(132681289_?)dup
NC_000012.12:g.(?_132624697)_(132626327_?)dup
NC_000012.12:g.(?_132624697)_(132687315_?)dup
NC_000012.12:g.(?_132632295)_(132687335_?)dup
NC_000012.12:g.(?_132632305)_(132687315_?)dup
NC_000012.12:g.(?_132632309)_(132636030_?)del
NC_000012.12:g.(?_132657126)_(132687315_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)dup
NC_000012.12:g.(?_132660959)_(132687325_?)dup
NC_000012.12:g.(?_132687244)_(132687315_?)dup
NC_000012.12:g.(?_132687244)_(132687325_?)del
NM_001101362.3(KBTBD13):c.1309C>T (p.Gln437Ter)
NM_006231.3(POLE):c.63-?_1794+?dup1732
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.1004T>C (p.Phe335Ser)
NM_006231.4(POLE):c.1008T>A (p.Asn336Lys)
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1021G>C (p.Ala341Pro) rs137860861
NM_006231.4(POLE):c.1025A>G (p.His342Arg) rs2136012061
NM_006231.4(POLE):c.1025A>T (p.His342Leu) rs2136012061
NM_006231.4(POLE):c.1067C>T (p.Pro356Leu) rs1593077523
NM_006231.4(POLE):c.1069A>G (p.Thr357Ala) rs1593077507
NM_006231.4(POLE):c.1073T>C (p.Ile358Thr) rs1593077499
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1119G>A (p.Glu373=) rs1555229135
NM_006231.4(POLE):c.1123C>T (p.Arg375Trp) rs556789278
NM_006231.4(POLE):c.1129G>A (p.Ala377Thr) rs754508108
NM_006231.4(POLE):c.1135C>T (p.His379Tyr)
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)
NM_006231.4(POLE):c.1147A>G (p.Met383Val) rs879254238
NM_006231.4(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.4(POLE):c.1161A>G (p.Ile387Met)
NM_006231.4(POLE):c.1168del (p.Gln390fs)
NM_006231.4(POLE):c.1171A>G (p.Lys391Glu)
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1175A>G (p.Asp392Gly) rs878854840
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1182G>C (p.Gln394His) rs2136008752
NM_006231.4(POLE):c.1184_1188dup (p.Tyr397fs)
NM_006231.4(POLE):c.1226+6G>T rs1286283864
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1232T>C (p.Val411Ala) rs1031999052
NM_006231.4(POLE):c.1267A>G (p.Asn423Asp)
NM_006231.4(POLE):c.1268A>G (p.Asn423Ser)
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1294C>G (p.Leu432Val) rs750475909
NM_006231.4(POLE):c.1324G>C (p.Glu442Gln)
NM_006231.4(POLE):c.1339A>C (p.Met447Leu) rs376095661
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1372T>C (p.Tyr458His)
NM_006231.4(POLE):c.1393G>T (p.Ala465Ser) rs771526654
NM_006231.4(POLE):c.141del (p.Phe48fs) rs761329565
NM_006231.4(POLE):c.1439C>T (p.Ala480Val) rs951851739
NM_006231.4(POLE):c.1453A>G (p.Ile485Val) rs1593072187
NM_006231.4(POLE):c.1455T>G (p.Ile485Met) rs878854843
NM_006231.4(POLE):c.1460T>C (p.Met487Thr) rs2042969483
NM_006231.4(POLE):c.1473+19G>A rs1057517628
NM_006231.4(POLE):c.1473+6C>T
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1523A>G (p.Gln508Arg) rs1003970392
NM_006231.4(POLE):c.1553A>G (p.Asn518Ser) rs553123678
NM_006231.4(POLE):c.1651G>A (p.Val551Ile) rs2042956447
NM_006231.4(POLE):c.1687-13A>G rs527311638
NM_006231.4(POLE):c.1693G>T (p.Ala565Ser) rs747247890
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.1726A>G (p.Lys576Glu) rs745745342
NM_006231.4(POLE):c.1738C>T (p.His580Tyr) rs371149234
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly) rs753890723
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1936G>A (p.Val646Met) rs2042855097
NM_006231.4(POLE):c.1946C>A (p.Ala649Asp) rs2042854832
NM_006231.4(POLE):c.1991A>C (p.Gln664Pro) rs1401873092
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2026A>G (p.Met676Val) rs1447713785
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2085C>G (p.Phe695Leu)
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2090C>A (p.Pro697His) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.2114G>C (p.Arg705Pro) rs773738016
NM_006231.4(POLE):c.2118C>T (p.Ala706=) rs1555227247
NM_006231.4(POLE):c.2125G>A (p.Glu709Lys) rs1367402208
NM_006231.4(POLE):c.2154del (p.Lys717_Tyr718insTer)
NM_006231.4(POLE):c.2174-12C>G rs192222479
NM_006231.4(POLE):c.2176T>G (p.Tyr726Asp)
NM_006231.4(POLE):c.2210C>A (p.Thr737Asn) rs755089034
NM_006231.4(POLE):c.2218G>A (p.Glu740Lys) rs1331682009
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2253C>G (p.Asn751Lys) rs1239144686
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2371G>A (p.Val791Met)
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.238A>G (p.Ser80Gly)
NM_006231.4(POLE):c.2435T>G (p.Leu812Arg)
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.2468+1G>T
NM_006231.4(POLE):c.2468+2dup rs1555226665
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser) rs2042746339
NM_006231.4(POLE):c.2562-7T>C rs2135957248
NM_006231.4(POLE):c.2687T>C (p.Met896Thr) rs1385034253
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2711G>T (p.Gly904Val) rs1332965505
NM_006231.4(POLE):c.2753C>A (p.Ser918Ter)
NM_006231.4(POLE):c.2770C>A (p.Arg924Ser) rs369751686
NM_006231.4(POLE):c.2783G>C (p.Ser928Thr) rs2042683635
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.286-4del rs1555230256
NM_006231.4(POLE):c.2863A>G (p.Arg955Gly) rs2042681407
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs) rs1593776393
NM_006231.4(POLE):c.2872G>T (p.Val958Leu) rs1443635519
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.297del (p.Tyr100fs) rs2043138492
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3037T>C (p.Trp1013Arg)
NM_006231.4(POLE):c.3060G>A (p.Lys1020=) rs878854858
NM_006231.4(POLE):c.3072G>T (p.Met1024Ile) rs1060500791
NM_006231.4(POLE):c.3107A>T (p.Asn1036Ile) rs2138678125
NM_006231.4(POLE):c.3124A>G (p.Lys1042Glu) rs2042630923
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu) rs201744227
NM_006231.4(POLE):c.3265G>C (p.Val1089Leu)
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14C>G rs368185422
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3310A>G (p.Thr1104Ala) rs2138663582
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.4(POLE):c.3339G>A (p.Trp1113Ter) rs757377081
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly) rs2042569982
NM_006231.4(POLE):c.3437C>G (p.Thr1146Ser) rs1555225192
NM_006231.4(POLE):c.3446C>T (p.Ala1149Val) rs778212434
NM_006231.4(POLE):c.3459+2T>C rs1057517634
NM_006231.4(POLE):c.3494A>C (p.Asp1165Ala)
NM_006231.4(POLE):c.3566T>A (p.Leu1189Gln)
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3583_4150-1613del
NM_006231.4(POLE):c.3589_3590insGGTC (p.Met1197fs) rs2138615789
NM_006231.4(POLE):c.3608A>T (p.Asp1203Val) rs2042383988
NM_006231.4(POLE):c.3629C>T (p.Pro1210Leu) rs1593751410
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala) rs1025864203
NM_006231.4(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro) rs766058852
NM_006231.4(POLE):c.3927T>A (p.Asp1309Glu)
NM_006231.4(POLE):c.4006-1G>T rs1057519256
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4102G>C (p.Val1368Leu) rs770558983
NM_006231.4(POLE):c.4136C>T (p.Ala1379Val)
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4153A>T (p.Asn1385Tyr) rs2042217919
NM_006231.4(POLE):c.4158G>A (p.Arg1386=) rs1473134331
NM_006231.4(POLE):c.4188_4192del (p.Asn1396fs) rs2042216340
NM_006231.4(POLE):c.423+2_423+4delinsAGT rs2043133267
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.4265A>G (p.Asp1422Gly) rs2138558884
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4370G>A (p.Gly1457Asp) rs776534749
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter) rs778238908
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4558A>G (p.Ser1520Gly) rs1021500357
NM_006231.4(POLE):c.4585C>G (p.Leu1529Val) rs1060504041
NM_006231.4(POLE):c.4586T>C (p.Leu1529Pro)
NM_006231.4(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4676del (p.Thr1559fs)
NM_006231.4(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4762C>G (p.Gln1588Glu)
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4844A>G (p.Asp1615Gly) rs2042174030
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686
NM_006231.4(POLE):c.4952+13C>T rs1057517612
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.5108G>C (p.Cys1703Ser) rs961736994
NM_006231.4(POLE):c.5150A>G (p.Asn1717Ser) rs1028428160
NM_006231.4(POLE):c.5151del (p.Asn1717fs) rs1565936691
NM_006231.4(POLE):c.5179G>T (p.Val1727Leu) rs2042151724
NM_006231.4(POLE):c.5194C>G (p.Gln1732Glu) rs2042151210
NM_006231.4(POLE):c.5233G>A (p.Val1745Ile) rs1593728098
NM_006231.4(POLE):c.5321A>G (p.Gln1774Arg)
NM_006231.4(POLE):c.532A>G (p.Arg178Gly) rs2043122950
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val) rs2138523727
NM_006231.4(POLE):c.5378+4C>T rs1565935556
NM_006231.4(POLE):c.5398G>T (p.Val1800Leu) rs199777048
NM_006231.4(POLE):c.5437T>C (p.Tyr1813His) rs1180742425
NM_006231.4(POLE):c.5465A>G (p.Tyr1822Cys) rs1002181208
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr) rs1057519257
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5679-14T>C rs1555221517
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.5722T>A (p.Ser1908Thr) rs2042024407
NM_006231.4(POLE):c.575C>A (p.Ser192Tyr)
NM_006231.4(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.4(POLE):c.5779G>C (p.Gly1927Arg) rs2138485262
NM_006231.4(POLE):c.579-1G>C
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.5908T>C (p.Ser1970Pro) rs1258796672
NM_006231.4(POLE):c.5949G>T (p.Leu1983Phe) rs2041990225
NM_006231.4(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.4(POLE):c.5995A>G (p.Ile1999Val) rs2041988946
NM_006231.4(POLE):c.6005-12G>T
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.60C>G (p.Ser20Arg) rs770124075
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6142A>T (p.Ile2048Phe) rs2138461658
NM_006231.4(POLE):c.62+1G>C rs1565986506
NM_006231.4(POLE):c.6200C>T (p.Thr2067Ile)
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6244G>A (p.Glu2082Lys) rs1285938402
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6308A>C (p.Glu2103Ala) rs1555220870
NM_006231.4(POLE):c.6322G>T (p.Val2108Leu) rs776551240
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6491G>A (p.Cys2164Tyr) rs750401329
NM_006231.4(POLE):c.6496G>A (p.Asp2166Asn) rs759795841
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6531+5G>T rs368538240
NM_006231.4(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del) rs1188033351
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-1G>A rs1555300846
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6792C>G (p.His2264Gln) rs1396625189
NM_006231.4(POLE):c.6839A>G (p.Lys2280Arg) rs2138421700
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.727T>G (p.Trp243Gly) rs2136018853
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.778C>G (p.Arg260Gly)
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.4(POLE):c.802-1G>C rs1555229470
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.4(POLE):c.824A>G (p.Asp275Gly) rs1565976801
NM_006231.4(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.4(POLE):c.826A>G (p.Ile276Val) rs1280169933
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.4(POLE):c.878T>C (p.Ile293Thr) rs2136015678
NM_006231.4(POLE):c.883A>G (p.Met295Val)
NM_006231.4(POLE):c.887T>C (p.Ile296Thr)
NM_006231.4(POLE):c.916C>T (p.Leu306Phe) rs1343048638
NM_006231.4(POLE):c.923C>T (p.Thr308Ile)
NM_006231.4(POLE):c.929G>T (p.Arg310Met)
NM_006231.4(POLE):c.936T>G (p.Ile312Met) rs1555229316
NM_006231.4(POLE):c.950T>C (p.Ile317Thr) rs1060500783
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006231.4(POLE):c.968C>A (p.Thr323Asn) rs1060500873
NM_006231.4(POLE):c.983A>T (p.Tyr328Phe) rs1339375099

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