ClinVar Miner

List of variants in gene POLE reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 439
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1686+32C>G rs762985435 0.00005
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.4708C>T (p.Arg1570Ter) rs1037592848 0.00003
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920 0.00001
NM_006231.4(POLE):c.2125G>T (p.Glu709Ter) rs1367402208 0.00001
NM_006231.4(POLE):c.2956C>T (p.Gln986Ter) rs2042668476 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.340C>T (p.Arg114Ter) rs1555230189 0.00001
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs) rs765645032 0.00001
NM_006231.4(POLE):c.3958C>T (p.Arg1320Ter) rs754411056 0.00001
NM_006231.4(POLE):c.4084dup (p.Ile1362fs) rs1329301077 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.4202C>G (p.Ser1401Ter) rs2042215726 0.00001
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter) rs747449574 0.00001
NM_006231.4(POLE):c.4444+3A>G rs398122515 0.00001
NM_006231.4(POLE):c.4705C>T (p.Gln1569Ter) rs778914414 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5233del (p.Val1745fs) rs1426234144 0.00001
NM_006231.4(POLE):c.5361del (p.Cys1788fs) rs752558475 0.00001
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter) rs1167794021 0.00001
NM_006231.4(POLE):c.5438dup (p.Tyr1813Ter) rs1266397026 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.5725C>T (p.Arg1909Ter) rs1380204151 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.6418del (p.Glu2140fs) rs1064794703 0.00001
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451 0.00001
NM_006231.4(POLE):c.745C>T (p.Arg249Ter) rs769190256 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.907C>T (p.Gln303Ter) rs749117997 0.00001
NM_006231.4(POLE):c.910-14A>G rs1364200072 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs) rs1064792921
NM_006231.3(POLE):c.4249_4251delinsCT (p.Glu1417fs) rs1555223073
NM_006231.4(POLE):c.1033C>T (p.Gln345Ter)
NM_006231.4(POLE):c.1045G>T (p.Glu349Ter) rs2043036914
NM_006231.4(POLE):c.104_105del (p.Leu35fs) rs1565981717
NM_006231.4(POLE):c.106del (p.Glu36fs)
NM_006231.4(POLE):c.1082_1086dup (p.Asn363fs) rs878854838
NM_006231.4(POLE):c.1100_1101del (p.Phe366_Phe367insTer) rs1488526952
NM_006231.4(POLE):c.1101del (p.Phe367fs)
NM_006231.4(POLE):c.1114del (p.Val372fs)
NM_006231.4(POLE):c.1115_1116del (p.Val372fs) rs2043027132
NM_006231.4(POLE):c.1117del (p.Glu373fs)
NM_006231.4(POLE):c.1157_1158insT (p.Glu386fs)
NM_006231.4(POLE):c.1168del (p.Gln390fs)
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1185_1188del (p.Glu396fs)
NM_006231.4(POLE):c.1186G>T (p.Glu396Ter) rs776752006
NM_006231.4(POLE):c.1186del (p.Glu396fs) rs2136008692
NM_006231.4(POLE):c.1186dup (p.Glu396fs) rs2136008692
NM_006231.4(POLE):c.1191del (p.Glu396_Tyr397insTer) rs2043024130
NM_006231.4(POLE):c.119G>A (p.Trp40Ter) rs1565981653
NM_006231.4(POLE):c.1201C>T (p.Gln401Ter)
NM_006231.4(POLE):c.1230G>A (p.Trp410Ter)
NM_006231.4(POLE):c.1236del (p.Arg413fs)
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.1281dup (p.Ala428fs)
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1293del (p.Lys431fs) rs1593073279
NM_006231.4(POLE):c.1299_1300dup (p.Tyr434fs)
NM_006231.4(POLE):c.1313del (p.Glu438fs)
NM_006231.4(POLE):c.1342dup (p.Ala448fs)
NM_006231.4(POLE):c.1350_1360del (p.Glu450fs) rs1565973030
NM_006231.4(POLE):c.1351C>T (p.Gln451Ter) rs1593073030
NM_006231.4(POLE):c.1357C>T (p.Gln453Ter) rs781360770
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1360del (p.Thr454fs) rs2135997131
NM_006231.4(POLE):c.1363_1364del (p.Leu455fs) rs1347535436
NM_006231.4(POLE):c.1376C>T (p.Ser459Phe)
NM_006231.4(POLE):c.1379del (p.Val460fs) rs2042972341
NM_006231.4(POLE):c.137del (p.Leu46fs) rs2136034222
NM_006231.4(POLE):c.1380_1381del (p.Ser461fs)
NM_006231.4(POLE):c.1400dup (p.Tyr467Ter)
NM_006231.4(POLE):c.1402_1403del (p.Tyr468fs)
NM_006231.4(POLE):c.1410C>G (p.Tyr470Ter) rs1593072345
NM_006231.4(POLE):c.141del (p.Phe48fs) rs761329565
NM_006231.4(POLE):c.1458del (p.Met487fs)
NM_006231.4(POLE):c.1470del (p.Asp490fs)
NM_006231.4(POLE):c.1488del (p.Ser497fs) rs2135994295
NM_006231.4(POLE):c.1496_1523del (p.Thr499fs) rs1355000721
NM_006231.4(POLE):c.1503_1504del (p.Cys501_Glu502delinsTer) rs762636894
NM_006231.4(POLE):c.1552_1553dup (p.Asn518fs)
NM_006231.4(POLE):c.1564C>T (p.Gln522Ter) rs2042959627
NM_006231.4(POLE):c.1588_1594del (p.Asp530fs) rs1555228293
NM_006231.4(POLE):c.1598_1601delinsAAGCTGACGGACGTA (p.Val533fs)
NM_006231.4(POLE):c.1608dup (p.Glu537Ter) rs2042958176
NM_006231.4(POLE):c.1623_1633del (p.His543fs) rs1593070775
NM_006231.4(POLE):c.1624_1625del (p.Gly542fs) rs1565971583
NM_006231.4(POLE):c.1625dup (p.His543fs) rs1565971583
NM_006231.4(POLE):c.1632_1633dup (p.Glu545fs)
NM_006231.4(POLE):c.1642G>T (p.Glu548Ter) rs908638591
NM_006231.4(POLE):c.1647_1648del (p.Val551fs)
NM_006231.4(POLE):c.1668_1669insTA (p.Pro557fs)
NM_006231.4(POLE):c.1673del (p.Cys558fs) rs1060500859
NM_006231.4(POLE):c.1674C>A (p.Cys558Ter)
NM_006231.4(POLE):c.1708del (p.Leu570fs)
NM_006231.4(POLE):c.1724_1736del (p.Glu575fs) rs2135990721
NM_006231.4(POLE):c.172G>A (p.Glu58Lys) rs1316755014
NM_006231.4(POLE):c.1738_1744del (p.His580fs) rs2042945374
NM_006231.4(POLE):c.1759_1762del (p.Lys587fs)
NM_006231.4(POLE):c.176del (p.Lys59fs) rs2043158678
NM_006231.4(POLE):c.1772del (p.Glu591fs)
NM_006231.4(POLE):c.1787_1788del (p.Asn595_Phe596insTer) rs2135990149
NM_006231.4(POLE):c.1836dup (p.Val613fs) rs1555227419
NM_006231.4(POLE):c.1838_1847del (p.Val613fs) rs2135979533
NM_006231.4(POLE):c.1839_1840del (p.Pro614fs)
NM_006231.4(POLE):c.185G>A (p.Trp62Ter) rs1565981538
NM_006231.4(POLE):c.1893C>A (p.Tyr631Ter)
NM_006231.4(POLE):c.1921C>T (p.Gln641Ter) rs1060500777
NM_006231.4(POLE):c.1989_1995del (p.Asn662_Cys663insTer)
NM_006231.4(POLE):c.2006G>A (p.Trp669Ter)
NM_006231.4(POLE):c.2012G>A (p.Trp671Ter)
NM_006231.4(POLE):c.2026+3G>T rs749631362
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.2090_2091del (p.Pro697fs) rs752846614
NM_006231.4(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.2100del (p.Glu701fs) rs2135975397
NM_006231.4(POLE):c.2154del (p.Lys717_Tyr718insTer)
NM_006231.4(POLE):c.2155G>T (p.Glu719Ter)
NM_006231.4(POLE):c.2158A>T (p.Lys720Ter) rs1565965603
NM_006231.4(POLE):c.215del (p.Ile71_Leu72insTer)
NM_006231.4(POLE):c.2161_2165del (p.Arg721fs)
NM_006231.4(POLE):c.2164del (p.Arg722fs) rs1555227234
NM_006231.4(POLE):c.2175_2179del (p.Asp725fs) rs2135971223
NM_006231.4(POLE):c.2187_2199delinsGT (p.Ala730fs) rs1555227130
NM_006231.4(POLE):c.2195dup (p.Lys733fs)
NM_006231.4(POLE):c.2197_2201dup (p.His735fs) rs1593790219
NM_006231.4(POLE):c.2218G>T (p.Glu740Ter)
NM_006231.4(POLE):c.2236del (p.Ile746fs)
NM_006231.4(POLE):c.2245del (p.Arg749fs) rs1565964707
NM_006231.4(POLE):c.226A>T (p.Lys76Ter) rs1468404698
NM_006231.4(POLE):c.2297dup (p.Tyr766Ter) rs2042823464
NM_006231.4(POLE):c.2298C>G (p.Tyr766Ter) rs760031526
NM_006231.4(POLE):c.2307del (p.Leu771fs) rs2135969291
NM_006231.4(POLE):c.2310del (p.Leu771fs) rs2135969239
NM_006231.4(POLE):c.2331_2332del (p.Lys778fs) rs773589185
NM_006231.4(POLE):c.233T>G (p.Leu78Ter) rs1593087229
NM_006231.4(POLE):c.2413C>T (p.Gln805Ter) rs2135961598
NM_006231.4(POLE):c.242_246del (p.Ala81fs)
NM_006231.4(POLE):c.2442dup (p.Phe815fs)
NM_006231.4(POLE):c.2451_2452insAT (p.Tyr818fs)
NM_006231.4(POLE):c.2473_2492del (p.Arg825fs) rs1593783115
NM_006231.4(POLE):c.2477_2501dup (p.Ile834fs) rs2042746784
NM_006231.4(POLE):c.2478G>A (p.Trp826Ter) rs375426113
NM_006231.4(POLE):c.2489_2493del (p.Glu830fs) rs2042746920
NM_006231.4(POLE):c.2551G>T (p.Glu851Ter) rs903152944
NM_006231.4(POLE):c.2595G>A (p.Trp865Ter) rs1593782279
NM_006231.4(POLE):c.2598_2599del (p.Val867fs) rs1593782262
NM_006231.4(POLE):c.2623_2624del (p.Asn875fs) rs2042737188
NM_006231.4(POLE):c.2650A>T (p.Lys884Ter)
NM_006231.4(POLE):c.2659A>T (p.Lys887Ter) rs1060500878
NM_006231.4(POLE):c.2662_2665del (p.Val888fs) rs2135956665
NM_006231.4(POLE):c.2668_2677del (p.Ile890fs)
NM_006231.4(POLE):c.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.4(POLE):c.2725dup (p.Gln909fs) rs1555226059
NM_006231.4(POLE):c.2731C>T (p.Gln911Ter) rs2135949491
NM_006231.4(POLE):c.2731del (p.Gln911fs) rs1555226051
NM_006231.4(POLE):c.2763C>G (p.Tyr921Ter)
NM_006231.4(POLE):c.2774C>G (p.Ser925Ter)
NM_006231.4(POLE):c.2809_2811delinsAG (p.Tyr937fs)
NM_006231.4(POLE):c.2810_2813del (p.Tyr937fs)
NM_006231.4(POLE):c.2810dup (p.Tyr937Ter) rs2135948486
NM_006231.4(POLE):c.2811C>A (p.Tyr937Ter) rs1593777350
NM_006231.4(POLE):c.2811C>G (p.Tyr937Ter) rs1593777350
NM_006231.4(POLE):c.2839del (p.Glu947fs)
NM_006231.4(POLE):c.2927del (p.Arg976fs)
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.2946dup (p.Lys983Ter)
NM_006231.4(POLE):c.2956del (p.Gln986fs) rs1593776083
NM_006231.4(POLE):c.297del (p.Tyr100fs) rs2043138492
NM_006231.4(POLE):c.2983A>T (p.Lys995Ter)
NM_006231.4(POLE):c.3009T>G (p.Tyr1003Ter)
NM_006231.4(POLE):c.3039G>A (p.Trp1013Ter) rs1593775821
NM_006231.4(POLE):c.303del (p.Lys101fs) rs2136029710
NM_006231.4(POLE):c.3054C>G (p.Tyr1018Ter) rs201249963
NM_006231.4(POLE):c.3071del (p.Met1024fs) rs1593772932
NM_006231.4(POLE):c.3074dup (p.Pro1025_Asp1026insTer) rs1565956310
NM_006231.4(POLE):c.3076dup (p.Asp1026fs) rs2138678956
NM_006231.4(POLE):c.307dup (p.Tyr103fs) rs2136029683
NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer) rs752148857
NM_006231.4(POLE):c.3112_3122del (p.Ser1038fs) rs2042631091
NM_006231.4(POLE):c.311del (p.Phe104fs) rs1390420355
NM_006231.4(POLE):c.3120_3121del (p.Arg1041fs)
NM_006231.4(POLE):c.3184G>T (p.Glu1062Ter)
NM_006231.4(POLE):c.3190del (p.Leu1064fs)
NM_006231.4(POLE):c.3199C>T (p.Gln1067Ter) rs2138675835
NM_006231.4(POLE):c.3212del (p.Asp1071fs) rs2042628713
NM_006231.4(POLE):c.3219del (p.Gly1073_Leu1074insTer) rs2042628623
NM_006231.4(POLE):c.3241_3242dup (p.Arg1082fs) rs2138674775
NM_006231.4(POLE):c.3264_3265insC (p.Val1089fs)
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006231.4(POLE):c.3267del (p.Thr1090fs)
NM_006231.4(POLE):c.3268del (p.Thr1090fs)
NM_006231.4(POLE):c.3309del (p.Thr1104fs)
NM_006231.4(POLE):c.3327dup (p.Leu1110fs) rs1555225319
NM_006231.4(POLE):c.3339G>A (p.Trp1113Ter) rs757377081
NM_006231.4(POLE):c.3344_3351del (p.Lys1115fs) rs2042581336
NM_006231.4(POLE):c.3347_3348del (p.Ser1116fs)
NM_006231.4(POLE):c.3365_3366dup (p.Asp1123fs)
NM_006231.4(POLE):c.3396C>A (p.Tyr1132Ter) rs1593766726
NM_006231.4(POLE):c.3408del (p.Leu1137fs)
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.4(POLE):c.3432del (p.Ile1145fs)
NM_006231.4(POLE):c.3476del (p.Pro1159fs) rs2138657518
NM_006231.4(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) rs1060500814
NM_006231.4(POLE):c.3510dup (p.Leu1171fs) rs1555225149
NM_006231.4(POLE):c.3524del (p.Asn1175fs)
NM_006231.4(POLE):c.3529_3530del (p.Val1177fs)
NM_006231.4(POLE):c.3534C>A (p.Tyr1178Ter) rs370133842
NM_006231.4(POLE):c.3550del (p.Ser1184fs)
NM_006231.4(POLE):c.3577dup (p.Arg1193fs)
NM_006231.4(POLE):c.3580C>T (p.Gln1194Ter)
NM_006231.4(POLE):c.361del (p.Ser121fs) rs2043134514
NM_006231.4(POLE):c.3620dup (p.Ser1208fs)
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3632_3795+72del rs2138611542
NM_006231.4(POLE):c.3632_3974del343insGAC (p.Asp1211fs)
NM_006231.4(POLE):c.3640_3641insT (p.Asp1214fs) rs2138614805
NM_006231.4(POLE):c.3641_3647del (p.Asp1214fs)
NM_006231.4(POLE):c.3678del (p.Val1227fs) rs2138614148
NM_006231.4(POLE):c.3691del (p.Arg1231fs)
NM_006231.4(POLE):c.3697C>T (p.Arg1233Ter) rs745750549
NM_006231.4(POLE):c.3708G>A (p.Trp1236Ter)
NM_006231.4(POLE):c.3727C>T (p.Gln1243Ter) rs949436167
NM_006231.4(POLE):c.372dup (p.Gln125fs)
NM_006231.4(POLE):c.3752G>A (p.Trp1251Ter) rs2042376718
NM_006231.4(POLE):c.3753G>A (p.Trp1251Ter) rs2042376634
NM_006231.4(POLE):c.3777_3778insCCCC (p.Ala1260fs)
NM_006231.4(POLE):c.3799G>T (p.Glu1267Ter) rs749543313
NM_006231.4(POLE):c.3804G>A (p.Trp1268Ter) rs769948095
NM_006231.4(POLE):c.3813G>A (p.Trp1271Ter) rs1274554341
NM_006231.4(POLE):c.3826A>T (p.Lys1276Ter)
NM_006231.4(POLE):c.382dup (p.Ile128fs)
NM_006231.4(POLE):c.3846_3976dup (p.Ile1326fs) rs2042362718
NM_006231.4(POLE):c.3912dup (p.Gly1305fs) rs2138607404
NM_006231.4(POLE):c.3925del (p.Asp1309fs)
NM_006231.4(POLE):c.394G>T (p.Glu132Ter) rs1047199277
NM_006231.4(POLE):c.3966dup (p.Ala1323fs) rs2138605837
NM_006231.4(POLE):c.3994C>T (p.Gln1332Ter)
NM_006231.4(POLE):c.4003C>T (p.Gln1335Ter)
NM_006231.4(POLE):c.400_401del (p.Val134fs) rs2136028810
NM_006231.4(POLE):c.4038del (p.Arg1346fs)
NM_006231.4(POLE):c.4089_4090dup (p.Arg1364fs) rs2138597699
NM_006231.4(POLE):c.4103dup (p.Asn1369fs) rs2138597281
NM_006231.4(POLE):c.4129dup (p.Glu1377fs) rs2138596618
NM_006231.4(POLE):c.4138_4139insAGT (p.Ser1380Ter) rs2042349678
NM_006231.4(POLE):c.4179_4180delinsT (p.Met1393fs) rs2042216996
NM_006231.4(POLE):c.4189_4195del (p.Leu1397fs)
NM_006231.4(POLE):c.4193_4194del (p.Leu1397_Tyr1398insTer) rs1323151304
NM_006231.4(POLE):c.4194T>G (p.Tyr1398Ter) rs1593736291
NM_006231.4(POLE):c.4221C>G (p.Tyr1407Ter) rs1486192402
NM_006231.4(POLE):c.4222C>T (p.Gln1408Ter) rs2042215003
NM_006231.4(POLE):c.4231_4232del (p.Ile1411fs) rs1593736079
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.4275_4284dup (p.Thr1429delinsArgIleTer) rs1565940240
NM_006231.4(POLE):c.4280_4281del (p.Val1426_Tyr1427insTer) rs2042212599
NM_006231.4(POLE):c.4306del (p.Arg1436fs)
NM_006231.4(POLE):c.4309del (p.Ala1437fs) rs2042205100
NM_006231.4(POLE):c.4337_4338del (p.Val1446fs) rs758487568
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006231.4(POLE):c.4348C>T (p.Gln1450Ter)
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter) rs778238908
NM_006231.4(POLE):c.4420del (p.Ala1474fs) rs1555222974
NM_006231.4(POLE):c.4443dup (p.Gly1482fs)
NM_006231.4(POLE):c.4445-1dup rs2042198580
NM_006231.4(POLE):c.446del (p.Lys149fs) rs2136027740
NM_006231.4(POLE):c.4480C>T (p.Gln1494Ter)
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4519C>T (p.Gln1507Ter)
NM_006231.4(POLE):c.4542del (p.Leu1515fs) rs878854874
NM_006231.4(POLE):c.4552-1dup rs1593732836
NM_006231.4(POLE):c.4564C>T (p.Gln1522Ter)
NM_006231.4(POLE):c.4580dup (p.Ala1528fs) rs2138542793
NM_006231.4(POLE):c.4588del (p.Tyr1530fs)
NM_006231.4(POLE):c.4593_4611del (p.Ala1532fs) rs1593732546
NM_006231.4(POLE):c.4629del (p.Glu1544fs)
NM_006231.4(POLE):c.4647del (p.Lys1550fs) rs754220952
NM_006231.4(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.4(POLE):c.4650dup (p.His1551fs)
NM_006231.4(POLE):c.4651_4652insTG (p.His1551fs)
NM_006231.4(POLE):c.4654_4655del (p.Thr1552fs) rs1555222708
NM_006231.4(POLE):c.4658del (p.Phe1553fs) rs1565938304
NM_006231.4(POLE):c.4689del (p.Ile1564fs) rs1555222696
NM_006231.4(POLE):c.4689dup (p.Ile1564fs) rs1555222696
NM_006231.4(POLE):c.4743del (p.Thr1583fs) rs1593731554
NM_006231.4(POLE):c.4757del (p.Ala1586fs) rs2042176558
NM_006231.4(POLE):c.4795G>T (p.Glu1599Ter) rs2138536072
NM_006231.4(POLE):c.479_480del (p.Val160fs)
NM_006231.4(POLE):c.4826dup (p.Pro1610fs) rs2138535602
NM_006231.4(POLE):c.4830del (p.Ile1611fs) rs2138535526
NM_006231.4(POLE):c.4838_4839del (p.Val1613fs) rs2138535398
NM_006231.4(POLE):c.4851dup (p.Asn1618fs)
NM_006231.4(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.4(POLE):c.4900del (p.Arg1634fs) rs1555222567
NM_006231.4(POLE):c.4908C>A (p.Tyr1636Ter)
NM_006231.4(POLE):c.4927del (p.Leu1643fs)
NM_006231.4(POLE):c.4928_4931dup (p.Gln1645fs) rs1593730668
NM_006231.4(POLE):c.4933C>T (p.Gln1645Ter) rs1593730641
NM_006231.4(POLE):c.4942G>T (p.Glu1648Ter) rs532781183
NM_006231.4(POLE):c.4956C>G (p.Tyr1652Ter) rs1468753963
NM_006231.4(POLE):c.4959del (p.His1654fs) rs1555222526
NM_006231.4(POLE):c.4959dup (p.His1654fs) rs1555222526
NM_006231.4(POLE):c.497_525del (p.Val166fs) rs2043123134
NM_006231.4(POLE):c.4987del (p.Asp1663fs)
NM_006231.4(POLE):c.5063del (p.Pro1688fs) rs2042163217
NM_006231.4(POLE):c.5063dup (p.Thr1689fs)
NM_006231.4(POLE):c.5090dup (p.Glu1698fs) rs1593729546
NM_006231.4(POLE):c.5109T>A (p.Cys1703Ter)
NM_006231.4(POLE):c.5111_5115dup (p.Met1706fs) rs2138529662
NM_006231.4(POLE):c.5119dup (p.Glu1707fs) rs1555222457
NM_006231.4(POLE):c.5130_5136del (p.Asp1710fs)
NM_006231.4(POLE):c.5151del (p.Asn1717fs) rs1565936691
NM_006231.4(POLE):c.5156C>G (p.Ser1719Ter) rs1178713176
NM_006231.4(POLE):c.5166C>G (p.Tyr1722Ter) rs775140280
NM_006231.4(POLE):c.5180_5181del (p.Val1727Glyfs) rs1555222376
NM_006231.4(POLE):c.5196_5209del (p.Asn1733fs) rs2042150698
NM_006231.4(POLE):c.5245G>T (p.Glu1749Ter) rs1593728038
NM_006231.4(POLE):c.5251del (p.Ala1751fs)
NM_006231.4(POLE):c.5256_5266del (p.Ser1753fs) rs1212640732
NM_006231.4(POLE):c.5260_5263dup (p.Gly1755fs)
NM_006231.4(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.4(POLE):c.5266del (p.Ile1756fs)
NM_006231.4(POLE):c.5278del (p.Asp1759_Val1760insTer) rs1565935966
NM_006231.4(POLE):c.5284C>T (p.Gln1762Ter) rs767221835
NM_006231.4(POLE):c.5287C>T (p.Gln1763Ter)
NM_006231.4(POLE):c.5316_5317del (p.Gly1773fs) rs1593727638
NM_006231.4(POLE):c.5323del (p.Ala1775fs)
NM_006231.4(POLE):c.5336del (p.Pro1779fs) rs1593727501
NM_006231.4(POLE):c.5359del (p.Leu1787fs) rs2042144519
NM_006231.4(POLE):c.5366_5367del (p.Cys1788_Ser1789insTer) rs2042144091
NM_006231.4(POLE):c.5367dup (p.Asn1790Ter) rs959133191
NM_006231.4(POLE):c.538C>T (p.Gln180Ter) rs1565979764
NM_006231.4(POLE):c.5405G>A (p.Trp1802Ter)
NM_006231.4(POLE):c.5423del (p.Gln1808fs) rs1565933220
NM_006231.4(POLE):c.5484del (p.Ser1829fs) rs1555221914
NM_006231.4(POLE):c.5491_5492del (p.Leu1831fs) rs878854883
NM_006231.4(POLE):c.5576_5579del (p.Leu1859fs)
NM_006231.4(POLE):c.5595C>G (p.Tyr1865Ter)
NM_006231.4(POLE):c.561C>G (p.Tyr187Ter) rs143938822
NM_006231.4(POLE):c.5621_5622del (p.Cys1874fs) rs773148245
NM_006231.4(POLE):c.5641G>T (p.Glu1881Ter) rs1593719605
NM_006231.4(POLE):c.5658C>A (p.Tyr1886Ter) rs369346799
NM_006231.4(POLE):c.5685_5688del (p.His1895fs) rs2138487274
NM_006231.4(POLE):c.5719_5722del (p.Phe1907fs) rs2042024442
NM_006231.4(POLE):c.5729del (p.Cys1910fs) rs780296577
NM_006231.4(POLE):c.5730_5751dup (p.Asp1918fs) rs2138485893
NM_006231.4(POLE):c.5747G>A (p.Trp1916Ter) rs2042023669
NM_006231.4(POLE):c.5762_5765del (p.Asn1921fs) rs2042023109
NM_006231.4(POLE):c.5765_5766del (p.Tyr1922fs)
NM_006231.4(POLE):c.5779_5783del (p.Gly1927fs) rs2138485176
NM_006231.4(POLE):c.5783_5784del (p.Lys1928fs) rs1593715351
NM_006231.4(POLE):c.5806G>T (p.Gly1936Ter)
NM_006231.4(POLE):c.5829_5830del (p.Gly1945fs) rs878854885
NM_006231.4(POLE):c.5840_5841del (p.Glu1947fs) rs1565928712
NM_006231.4(POLE):c.5848C>T (p.Gln1950Ter)
NM_006231.4(POLE):c.5851G>T (p.Glu1951Ter) rs768917089
NM_006231.4(POLE):c.586C>T (p.Gln196Ter)
NM_006231.4(POLE):c.5884del (p.Glu1962fs)
NM_006231.4(POLE):c.5917G>T (p.Glu1973Ter) rs7487595
NM_006231.4(POLE):c.5924T>A (p.Leu1975Ter) rs1295662769
NM_006231.4(POLE):c.5932_5942del (p.Asn1978fs) rs1555221197
NM_006231.4(POLE):c.5942del (p.Asn1981fs)
NM_006231.4(POLE):c.5950C>T (p.Gln1984Ter) rs1174471791
NM_006231.4(POLE):c.5957del (p.Leu1986fs) rs2041989992
NM_006231.4(POLE):c.5958_5959del (p.Leu1986fs) rs2041989919
NM_006231.4(POLE):c.6002C>G (p.Ser2001Ter) rs1565928374
NM_006231.4(POLE):c.6020del (p.Val2007fs)
NM_006231.4(POLE):c.6023del (p.Tyr2008fs) rs1593709229
NM_006231.4(POLE):c.6026_6027dup (p.Cys2010fs) rs2138465301
NM_006231.4(POLE):c.6026del (p.His2009fs) rs1565927314
NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer) rs754630848
NM_006231.4(POLE):c.6088del (p.Ala2030fs) rs1060500809
NM_006231.4(POLE):c.6100_6101dup (p.Gln2035fs) rs1593708851
NM_006231.4(POLE):c.6103C>T (p.Gln2035Ter) rs757478410
NM_006231.4(POLE):c.6118del (p.Ala2040fs) rs2138463732
NM_006231.4(POLE):c.6154C>T (p.Gln2052Ter) rs2041953300
NM_006231.4(POLE):c.6162T>G (p.Tyr2054Ter) rs1057523175
NM_006231.4(POLE):c.6176del (p.Leu2059fs) rs1386361223
NM_006231.4(POLE):c.6181C>T (p.Gln2061Ter)
NM_006231.4(POLE):c.6206del (p.Lys2069fs)
NM_006231.4(POLE):c.6211C>T (p.Gln2071Ter) rs775527406
NM_006231.4(POLE):c.6218_6219del (p.Lys2073fs) rs2138460631
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6244G>T (p.Glu2082Ter)
NM_006231.4(POLE):c.6251C>G (p.Ser2084Ter)
NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs) rs1593707749
NM_006231.4(POLE):c.6275del (p.Gly2092fs) rs2138459935
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.640C>T (p.Gln214Ter)
NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs) rs1555301223
NM_006231.4(POLE):c.6462_6478del (p.Glu2155fs) rs2138430866
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6499del (p.Leu2167fs)
NM_006231.4(POLE):c.6518del (p.Ser2173fs) rs2138430436
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.6551_6552del (p.Gln2184fs) rs2041825753
NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)
NM_006231.4(POLE):c.6598G>T (p.Glu2200Ter) rs752113614
NM_006231.4(POLE):c.6622C>T (p.Gln2208Ter) rs2041823623
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.663dup (p.Arg222fs) rs1555229694
NM_006231.4(POLE):c.664del (p.Arg222fs)
NM_006231.4(POLE):c.672C>A (p.Tyr224Ter) rs376923206
NM_006231.4(POLE):c.672C>G (p.Tyr224Ter) rs376923206
NM_006231.4(POLE):c.6747+1G>A rs2138422722
NM_006231.4(POLE):c.681_685dup (p.His229fs)
NM_006231.4(POLE):c.697_698del (p.Ser233fs) rs1361462274
NM_006231.4(POLE):c.711del (p.Ile238fs)
NM_006231.4(POLE):c.729G>A (p.Trp243Ter) rs1565977663
NM_006231.4(POLE):c.738_753del (p.Arg247fs)
NM_006231.4(POLE):c.73_74dup (p.Thr26fs)
NM_006231.4(POLE):c.744C>A (p.Tyr248Ter)
NM_006231.4(POLE):c.76del (p.Thr26fs) rs2043162254
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.801+2T>C rs1593080925
NM_006231.4(POLE):c.802-307G>T
NM_006231.4(POLE):c.806del (p.Pro269fs) rs1435794183
NM_006231.4(POLE):c.821_825del (p.Phe274fs) rs2043060011
NM_006231.4(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.4(POLE):c.857del (p.Pro286fs)
NM_006231.4(POLE):c.899del (p.Ile300fs) rs2043057258
NM_006231.4(POLE):c.89C>A (p.Ser30Ter) rs997586826
NM_006231.4(POLE):c.905del (p.Gly302fs) rs1412241641
NM_006231.4(POLE):c.929_932delinsCCAACT (p.Arg310fs) rs1593078531
NM_006231.4(POLE):c.92_93insCAGTTTCGTC (p.Leu32fs) rs2136034735
NM_006231.4(POLE):c.974del (p.Lys325fs) rs2136013780
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437

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