Variants with conflicting interpretations studied for Colorectal cancer, susceptibility to, 12

Minimum review status of the submission for Colorectal cancer, susceptibility to, 12:		Collection method of the submission for Colorectal cancer, susceptibility to, 12:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
286	261	1	174	98	0	4	272

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Colorectal cancer, susceptibility to, 12		pathogenic	uncertain significance	likely benign	benign
	pathogenic	1	1	0	0
	likely pathogenic	1	3	0	0
	uncertain significance	1	0	78	10
	likely benign	0	22	0	22
	benign	0	5	163	0

Condition to condition summary #

Total conditions: 4

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Hereditary cancer-predisposing syndrome	0	252	1	171	94	4	267
Colorectal cancer, susceptibility to, 12	732	64	0	12	10	1	23
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis	0	17	1	6	3	0	10
Colorectal cancer, susceptibility to, 10	0	7	0	0	2	0	2

All variants with conflicting interpretations #

Total variants: 272

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.3379-5T>C	rs5744886	0.02649
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.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.91G>T (p.Ala31Ser)	rs34047482	0.01320
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	0.00843
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)	rs5744760	0.00805
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)	rs5745068	0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	rs73155056	0.00487
NM_006231.4(POLE):c.1359+9G>A	rs75135381	0.00461
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	rs73481453	0.00444
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	0.00291
NM_006231.4(POLE):c.846C>T (p.Pro282=)	rs5744758	0.00291
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)	rs148788180	0.00271
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.1323G>A (p.Pro441=)	rs116573514	0.00174
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)	rs142508245	0.00170
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)	rs114891564	0.00140
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)	rs116076060	0.00127
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)	rs149973644	0.00127
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	rs139075637	0.00122
NM_006231.4(POLE):c.1360-6C>T	rs139836643	0.00096
NM_006231.4(POLE):c.1347G>A (p.Thr449=)	rs142373951	0.00090
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)	rs143626223	0.00076
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.1337G>A (p.Arg446Gln)	rs151273553	0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)	rs61734163	0.00040
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)	rs147543146	0.00037
NM_006231.4(POLE):c.2026+9C>T	rs373790607	0.00036
NM_006231.4(POLE):c.4941C>T (p.Phe1647=)	rs145639967	0.00036
NM_006231.4(POLE):c.2602C>T (p.Leu868=)	rs115830215	0.00033
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)	rs139182500	0.00028
NM_006231.4(POLE):c.546C>T (p.His182=)	rs115257501	0.00026
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.519C>T (p.Ala173=)	rs187690610	0.00023
NM_006231.4(POLE):c.5379-19C>T	rs376722984	0.00023
NM_006231.4(POLE):c.672C>T (p.Tyr224=)	rs376923206	0.00022
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)	rs115558715	0.00021
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)	rs146592584	0.00021
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)	rs140566004	0.00019
NM_006231.4(POLE):c.3378+10A>G	rs193075152	0.00019
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.154C>T (p.Arg52Trp)	rs115452881	0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	rs201744227	0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)	rs200398117	0.00016
NM_006231.4(POLE):c.1188G>A (p.Glu396=)	rs371717068	0.00013
NM_006231.4(POLE):c.6004+5G>T	rs372169366	0.00013
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg)	rs141396559	0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	rs538875477	0.00012
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.4603G>A (p.Gly1535Ser)	rs138564205	0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)	rs143247306	0.00011
NM_006231.4(POLE):c.6658-7C>A	rs531482240	0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)	rs770403791	0.00011
NM_006231.4(POLE):c.6531+6G>T	rs774747998	0.00010
NM_006231.4(POLE):c.2174-11G>A	rs111570840	0.00009
NM_006231.4(POLE):c.3378+7G>T	rs755370377	0.00008
NM_006231.4(POLE):c.2639C>T (p.Thr880Met)	rs1337524033	0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)	rs531705054	0.00007
NM_006231.4(POLE):c.4150-12T>C	rs551697046	0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His)	rs760149463	0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)	rs190813054	0.00006
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)	rs372459649	0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)	rs539312991	0.00005
NM_006231.4(POLE):c.3620C>T (p.Pro1207Leu)	rs144086049	0.00005
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr)	rs373468985	0.00005
NM_006231.4(POLE):c.5742T>C (p.Leu1914=)	rs541999794	0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)	rs367970442	0.00005
NM_006231.4(POLE):c.1014C>T (p.Pro338=)	rs143102561	0.00004
NM_006231.4(POLE):c.1296A>G (p.Leu432=)	rs142624113	0.00004
NM_006231.4(POLE):c.1467C>T (p.Pro489=)	rs995585765	0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile)	rs138443282	0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)	rs150545516	0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)	rs771490182	0.00004
NM_006231.4(POLE):c.828T>C (p.Ile276=)	rs878854897	0.00004
NM_006231.4(POLE):c.834G>A (p.Thr278=)	rs758368160	0.00004
NM_006231.4(POLE):c.912C>T (p.Gly304=)	rs1064794932	0.00004
NM_006231.4(POLE):c.1254T>G (p.Pro418=)	rs1555228650	0.00003
NM_006231.4(POLE):c.1281C>T (p.Ala427=)	rs371586756	0.00003
NM_006231.4(POLE):c.1371G>A (p.Thr457=)	rs753216372	0.00003
NM_006231.4(POLE):c.1389T>C (p.Ala463=)	rs1014643567	0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu)	rs572986717	0.00003
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu)	rs746585658	0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His)	rs143229302	0.00003
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val)	rs139498590	0.00003
NM_006231.4(POLE):c.5001C>T (p.Phe1667=)	rs112358554	0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=)	rs537648186	0.00003
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)	rs764457707	0.00003
NM_006231.4(POLE):c.762G>A (p.Pro254=)	rs371334601	0.00003
NM_006231.4(POLE):c.1008T>C (p.Asn336=)	rs754405980	0.00002
NM_006231.4(POLE):c.1089C>T (p.Asn363=)	rs146639652	0.00002
NM_006231.4(POLE):c.1092G>A (p.Gly364=)	rs749415346	0.00002
NM_006231.4(POLE):c.1137C>T (p.His379=)	rs376333939	0.00002
NM_006231.4(POLE):c.1377T>G (p.Ser459=)	rs759923098	0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=)	rs770904877	0.00002
NM_006231.4(POLE):c.3919A>G (p.Ile1307Val)	rs1000912264	0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile)	rs372388555	0.00002
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly)	rs372504703	0.00002
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)	rs58916399	0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln)	rs762044635	0.00002
NM_006231.4(POLE):c.7C>G (p.Leu3Val)	rs1018143132	0.00002
NM_006231.4(POLE):c.90G>A (p.Ser30=)	rs369224511	0.00002
NM_006231.4(POLE):c.1026T>C (p.His342=)	rs1472394680	0.00001
NM_006231.4(POLE):c.1050C>T (p.His350=)	rs752171701	0.00001
NM_006231.4(POLE):c.1062C>G (p.Thr354=)	rs145245295	0.00001
NM_006231.4(POLE):c.1092G>T (p.Gly364=)	rs749415346	0.00001
NM_006231.4(POLE):c.1110A>G (p.Pro370=)	rs772386963	0.00001
NM_006231.4(POLE):c.1134C>G (p.Val378=)	rs878854839	0.00001
NM_006231.4(POLE):c.1185G>A (p.Gly395=)	rs1593076777	0.00001
NM_006231.4(POLE):c.1197G>A (p.Ala399=)	rs1000162996	0.00001
NM_006231.4(POLE):c.1200C>T (p.Pro400=)	rs1330997509	0.00001
NM_006231.4(POLE):c.1224C>A (p.Leu408=)	rs748536025	0.00001
NM_006231.4(POLE):c.1260C>T (p.Gly420=)	rs1057523868	0.00001
NM_006231.4(POLE):c.1278G>A (p.Ala426=)	rs1437075270	0.00001
NM_006231.4(POLE):c.1308C>T (p.Pro436=)	rs755627156	0.00001
NM_006231.4(POLE):c.1326G>A (p.Glu442=)	rs745411507	0.00001
NM_006231.4(POLE):c.1344C>T (p.Ala448=)	rs771963023	0.00001
NM_006231.4(POLE):c.1360-20C>G	rs781212006	0.00001
NM_006231.4(POLE):c.1392C>T (p.Val464=)	rs772578799	0.00001
NM_006231.4(POLE):c.1419C>T (p.Tyr473=)	rs369961557	0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)	rs980578884	0.00001
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)	rs574033788	0.00001
NM_006231.4(POLE):c.2152T>C (p.Tyr718His)	rs1267528399	0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)	rs770470552	0.00001
NM_006231.4(POLE):c.3135T>C (p.Asp1045=)	rs748871390	0.00001
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs)	rs765645032	0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu)	rs745601745	0.00001
NM_006231.4(POLE):c.4336G>C (p.Val1446Leu)	rs878854869	0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg)	rs577952179	0.00001
NM_006231.4(POLE):c.4716G>A (p.Leu1572=)	rs138782478	0.00001
NM_006231.4(POLE):c.5036G>A (p.Arg1679His)	rs748940418	0.00001
NM_006231.4(POLE):c.5152A>G (p.Ser1718Gly)	rs374381852	0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val)	rs1064794641	0.00001
NM_006231.4(POLE):c.5364C>T (p.Cys1788=)	rs5744955	0.00001
NM_006231.4(POLE):c.5379-5T>C	rs761910924	0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys)	rs138231414	0.00001
NM_006231.4(POLE):c.5678+3G>A	rs1060500826	0.00001
NM_006231.4(POLE):c.626A>G (p.Lys209Arg)	rs754559038	0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu)	rs1064796126	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.802-5C>T	rs376302620	0.00001
NM_006231.4(POLE):c.837C>G (p.Thr279=)	rs927395918	0.00001
NM_006231.4(POLE):c.841C>T (p.Leu281=)	rs765827736	0.00001
NM_006231.4(POLE):c.849C>G (p.Leu283=)	rs1232888774	0.00001
NM_006231.4(POLE):c.864T>C (p.Ala288=)	rs761167791	0.00001
NM_006231.4(POLE):c.901G>A (p.Asp301Asn)	rs1060500882	0.00001
NM_006231.4(POLE):c.910-5G>A	rs750101293	0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)	rs869312803	0.00001
NM_006231.4(POLE):c.942A>C (p.Ser314=)	rs548933169	0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe)	rs781513537	0.00001
NM_006231.4(POLE):c.972C>G (p.Pro324=)	rs745638752	0.00001
NM_006231.4(POLE):c.975G>A (p.Lys325=)	rs778124242	0.00001
NM_006231.4(POLE):c.984T>C (p.Tyr328=)	rs1593078331	0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=)	rs779159186	0.00001
NM_006231.4(POLE):c.1002C>T (p.Val334=)	rs1555229284
NM_006231.4(POLE):c.1011A>G (p.Glu337=)	rs780653256
NM_006231.4(POLE):c.1017T>C (p.Asp339=)	rs756833644
NM_006231.4(POLE):c.1032C>T (p.Ile344=)	rs763678641
NM_006231.4(POLE):c.1068C>T (p.Pro356=)	rs1304186498
NM_006231.4(POLE):c.1074C>T (p.Ile358=)	rs2136011325
NM_006231.4(POLE):c.1083C>G (p.Thr361=)	rs1555229211
NM_006231.4(POLE):c.1086C>T (p.Tyr362=)	rs1555229206
NM_006231.4(POLE):c.1098T>C (p.Phe366=)	rs2136011031
NM_006231.4(POLE):c.1104C>T (p.Asp368=)	rs2136010953
NM_006231.4(POLE):c.1106+7C>A	rs369889926
NM_006231.4(POLE):c.1110A>C (p.Pro370=)	rs772386963
NM_006231.4(POLE):c.1119G>A (p.Glu373=)	rs1555229135
NM_006231.4(POLE):c.1135C>T (p.His379Tyr)	rs2542159094
NM_006231.4(POLE):c.1140T>G (p.Gly380=)	rs2043025937
NM_006231.4(POLE):c.1143G>A (p.Leu381=)	rs1555229118
NM_006231.4(POLE):c.1143G>C (p.Leu381=)	rs1555229118
NM_006231.4(POLE):c.1158G>A (p.Glu386=)	rs2136009028
NM_006231.4(POLE):c.1170G>A (p.Gln390=)	rs2136008912
NM_006231.4(POLE):c.1173G>A (p.Lys391=)	rs1593076842
NM_006231.4(POLE):c.1176C>T (p.Asp392=)	rs752873913
NM_006231.4(POLE):c.1191C>T (p.Tyr397=)	rs1208085896
NM_006231.4(POLE):c.1206C>T (p.Cys402=)	rs772441931
NM_006231.4(POLE):c.1221C>T (p.Cys407=)	rs2043023127
NM_006231.4(POLE):c.1224C>G (p.Leu408=)	rs748536025
NM_006231.4(POLE):c.1242C>T (p.Asp414=)	rs775213170
NM_006231.4(POLE):c.1269T>C (p.Asn423=)	rs2542146740
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	rs483352909
NM_006231.4(POLE):c.1272C>G (p.Leu424=)	rs1555228638
NM_006231.4(POLE):c.1294C>T (p.Leu432=)	rs750475909
NM_006231.4(POLE):c.1299C>T (p.Gly433=)	rs1241897422
NM_006231.4(POLE):c.1311G>A (p.Val437=)	rs2042981316
NM_006231.4(POLE):c.1315C>T (p.Leu439=)	rs2135999602
NM_006231.4(POLE):c.1317A>G (p.Leu439=)	rs1593073180
NM_006231.4(POLE):c.1323G>C (p.Pro441=)
NM_006231.4(POLE):c.1338G>A (p.Arg446=)
NM_006231.4(POLE):c.1347G>C (p.Thr449=)	rs142373951
NM_006231.4(POLE):c.1360-5C>T	rs1555228512
NM_006231.4(POLE):c.1377T>C (p.Ser459=)
NM_006231.4(POLE):c.1380G>A (p.Val460=)	rs2135996843
NM_006231.4(POLE):c.1401C>T (p.Tyr467=)
NM_006231.4(POLE):c.1410C>T (p.Tyr470=)	rs1593072345
NM_006231.4(POLE):c.1416G>A (p.Lys472=)	rs776977459
NM_006231.4(POLE):c.1422C>T (p.Val474=)	rs1555228472
NM_006231.4(POLE):c.1440T>C (p.Ala480=)	rs1248513702
NM_006231.4(POLE):c.1440_1441delinsCT (p.Ala480_Leu481=)	rs2542140155
NM_006231.4(POLE):c.1443G>A (p.Leu481=)	rs1593072246
NM_006231.4(POLE):c.1446C>T (p.Cys482=)	rs1593072230
NM_006231.4(POLE):c.1452T>C (p.Ile484=)	rs1060504063
NM_006231.4(POLE):c.1458C>A (p.Pro486=)	rs2042969575
NM_006231.4(POLE):c.1464G>A (p.Glu488=)	rs1012445618
NM_006231.4(POLE):c.1467C>G (p.Pro489=)	rs995585765
NM_006231.4(POLE):c.1473+3G>A	rs1264359374
NM_006231.4(POLE):c.1695C>T (p.Ala565=)	rs139748472
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu)	rs147438050
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)	rs5744799
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.2236A>G (p.Ile746Val)	rs1480527153
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser)	rs2042746339
NM_006231.4(POLE):c.2865-3C>T	rs1203095918
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)	rs1555225958
NM_006231.4(POLE):c.3339G>A (p.Trp1113Ter)	rs757377081
NM_006231.4(POLE):c.3737C>T (p.Thr1246Met)	rs750902578
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro)	rs766058852
NM_006231.4(POLE):c.424-9G>A	rs1060504074
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)	rs147500308
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg)	rs776538943
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val)	rs2138523727
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)	rs5744971
NM_006231.4(POLE):c.5679-3C>T	rs1555221512
NM_006231.4(POLE):c.6244G>A (p.Glu2082Lys)	rs1285938402
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)	rs373443211
NM_006231.4(POLE):c.6496G>A (p.Asp2166Asn)	rs759795841
NM_006231.4(POLE):c.804C>T (p.Asp268=)	rs1593079711
NM_006231.4(POLE):c.810G>A (p.Val270=)	rs973650664
NM_006231.4(POLE):c.814T>C (p.Leu272=)	rs1593079670
NM_006231.4(POLE):c.819A>G (p.Ala273=)	rs1185171180
NM_006231.4(POLE):c.825C>T (p.Asp275=)	rs1483809345
NM_006231.4(POLE):c.840A>G (p.Lys280=)	rs908089476
NM_006231.4(POLE):c.843G>T (p.Leu281=)	rs2136016051
NM_006231.4(POLE):c.876G>A (p.Gln292=)	rs1324298673
NM_006231.4(POLE):c.894C>T (p.Tyr298=)	rs1555229404
NM_006231.4(POLE):c.900C>T (p.Ile300=)	rs1161210567
NM_006231.4(POLE):c.909+3G>A
NM_006231.4(POLE):c.910-5G>T	rs750101293
NM_006231.4(POLE):c.933G>A (p.Glu311=)
NM_006231.4(POLE):c.936T>A (p.Ile312=)	rs1555229316
NM_006231.4(POLE):c.939T>G (p.Val313=)	rs2136013996
NM_006231.4(POLE):c.945A>G (p.Glu315=)	rs2542167657
NM_006231.4(POLE):c.957T>C (p.Asp319=)	rs878854899
NM_006231.4(POLE):c.963G>A (p.Glu321=)	rs1555229295
NM_006231.4(POLE):c.966C>T (p.Phe322=)	rs2136013841
NM_006231.4(POLE):c.969C>T (p.Thr323=)
NM_006231.4(POLE):c.972C>T (p.Pro324=)	rs745638752
NM_006231.4(POLE):c.978A>T (p.Pro326=)	rs1593078359
NM_006231.4(POLE):c.983A>T (p.Tyr328Phe)	rs1339375099

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