ClinVar Miner

List of variants in gene ATM reported as uncertain significance by Color

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 699
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HGVS dbSNP
NM_000051.3(ATM):c.-14T>C
NM_000051.3(ATM):c.-15C>T rs1204830852
NM_000051.3(ATM):c.-19T>C rs890075956
NM_000051.3(ATM):c.-2C>T rs755213267
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.1012A>C (p.Asn338His) rs751800302
NM_000051.3(ATM):c.1047G>A (p.Met349Ile) rs768480943
NM_000051.3(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) rs876659092
NM_000051.3(ATM):c.1066-3C>T rs1565378708
NM_000051.3(ATM):c.1076A>G (p.Glu359Gly) rs1555069537
NM_000051.3(ATM):c.107A>G (p.Asp36Gly) rs1488019755
NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) rs199869975
NM_000051.3(ATM):c.1086A>T (p.Arg362Ser) rs142591268
NM_000051.3(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) rs879254289
NM_000051.3(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.3(ATM):c.1121A>C (p.Gln374Pro) rs1555069640
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.3(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.3(ATM):c.1195C>T (p.His399Tyr) rs1565379474
NM_000051.3(ATM):c.1196A>G (p.His399Arg) rs1565379486
NM_000051.3(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.3(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.3(ATM):c.121A>G (p.Lys41Glu) rs1060501672
NM_000051.3(ATM):c.1225C>A (p.Leu409Ile) rs786203815
NM_000051.3(ATM):c.1225C>T (p.Leu409Phe) rs786203815
NM_000051.3(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1271C>A (p.Pro424His) rs147472613
NM_000051.3(ATM):c.1273G>A (p.Ala425Thr) rs769214234
NM_000051.3(ATM):c.127C>G (p.Leu43Val) rs772591447
NM_000051.3(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.3(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.3(ATM):c.1313_1389delinsGACTCCATTAC (p.Ile438_Ala463delinsArgLeuHisTyr) rs1565382200
NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) rs773895161
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.3(ATM):c.133C>T (p.Arg45Trp) rs3218684
NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) rs760676955
NM_000051.3(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.3(ATM):c.134G>A (p.Arg45Gln) rs762382111
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1352G>A (p.Arg451His) rs554805703
NM_000051.3(ATM):c.1363G>A (p.Val455Met) rs368879876
NM_000051.3(ATM):c.1369C>G (p.Arg457Gly) rs749036865
NM_000051.3(ATM):c.1378A>C (p.Thr460Pro) rs587782729
NM_000051.3(ATM):c.1379C>T (p.Thr460Met) rs587781841
NM_000051.3(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.3(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.3(ATM):c.1417G>A (p.Glu473Lys) rs1565382834
NM_000051.3(ATM):c.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.3(ATM):c.1437T>G (p.Asp479Glu) rs1565382937
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
NM_000051.3(ATM):c.1487G>A (p.Ser496Asn) rs778890679
NM_000051.3(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.3(ATM):c.149A>G (p.Lys50Arg) rs1479478300
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1523T>C (p.Leu508Pro) rs1565383502
NM_000051.3(ATM):c.1544G>C (p.Ser515Thr) rs1555071168
NM_000051.3(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.3(ATM):c.1568T>A (p.Phe523Tyr) rs768038315
NM_000051.3(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.3(ATM):c.1607+5G>A rs766535949
NM_000051.3(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.3(ATM):c.1661C>T (p.Thr554Met) rs1060501694
NM_000051.3(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.3(ATM):c.1675A>G (p.Ile559Val) rs1060501545
NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) rs368209025
NM_000051.3(ATM):c.1688T>G (p.Met563Arg) rs750815208
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.3(ATM):c.1702A>G (p.Arg568Gly) rs876659425
NM_000051.3(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.3(ATM):c.1726A>G (p.Ile576Val) rs1064795170
NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) rs730881342
NM_000051.3(ATM):c.1729A>G (p.Met577Val) rs1555071919
NM_000051.3(ATM):c.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.3(ATM):c.1741T>G (p.Leu581Val) rs876659822
NM_000051.3(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.3(ATM):c.175G>T (p.Ala59Ser) rs752527112
NM_000051.3(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.3(ATM):c.1792A>C (p.Ile598Leu) rs730881343
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.3(ATM):c.1798C>G (p.His600Asp) rs1555072089
NM_000051.3(ATM):c.1805A>G (p.Asn602Ser) rs1173305253
NM_000051.3(ATM):c.1837G>T (p.Val613Leu) rs200124136
NM_000051.3(ATM):c.1838T>G (p.Val613Gly) rs762018538
NM_000051.3(ATM):c.1841G>C (p.Ser614Thr) rs770377706
NM_000051.3(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.3(ATM):c.1870A>G (p.Met624Val) rs863224557
NM_000051.3(ATM):c.1874A>T (p.Asn625Ile) rs766757573
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
NM_000051.3(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
NM_000051.3(ATM):c.1898+3A>G rs200169643
NM_000051.3(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.3(ATM):c.1903C>T (p.His635Tyr) rs761491947
NM_000051.3(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.3(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.3(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
NM_000051.3(ATM):c.1927C>G (p.Leu643Val) rs1565389730
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
NM_000051.3(ATM):c.1945G>A (p.Glu649Lys) rs786202511
NM_000051.3(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.3(ATM):c.1966A>G (p.Thr656Ala) rs1064793032
NM_000051.3(ATM):c.1971T>G (p.Phe657Leu) rs1555073215
NM_000051.3(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.3(ATM):c.1978A>G (p.Met660Val) rs1555073240
NM_000051.3(ATM):c.1979_1981delinsAGA (p.Met660_Asp661delinsLysAsn) rs1565390104
NM_000051.3(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.3(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.3(ATM):c.2036G>C (p.Gly679Ala) rs544123518
NM_000051.3(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.3(ATM):c.2062G>A (p.Glu688Lys) rs769338089
NM_000051.3(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.3(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.3(ATM):c.2125-3A>C rs1565394396
NM_000051.3(ATM):c.2125-4T>C rs1064795623
NM_000051.3(ATM):c.2138A>C (p.Glu713Ala) rs1565394523
NM_000051.3(ATM):c.2141C>T (p.Thr714Ile) rs1555074846
NM_000051.3(ATM):c.2144T>C (p.Leu715Pro) rs1555074855
NM_000051.3(ATM):c.2147T>C (p.Val716Ala) rs864622294
NM_000051.3(ATM):c.2149C>T (p.Arg717Trp) rs147515380
NM_000051.3(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.3(ATM):c.2150G>C (p.Arg717Pro) rs768874297
NM_000051.3(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.3(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.3(ATM):c.2159G>A (p.Arg720His) rs55830714
NM_000051.3(ATM):c.2168T>C (p.Val723Ala) rs745399310
NM_000051.3(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.3(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) rs587781595
NM_000051.3(ATM):c.2197G>A (p.Gly733Ser) rs1565394966
NM_000051.3(ATM):c.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.3(ATM):c.2218G>C (p.Ala740Pro) rs786201866
NM_000051.3(ATM):c.2238C>G (p.Phe746Leu) rs786203595
NM_000051.3(ATM):c.2250+4G>A rs1565395217
NM_000051.3(ATM):c.2251-3T>C rs752951518
NM_000051.3(ATM):c.2251-6C>T rs1555075617
NM_000051.3(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) rs3205809
NM_000051.3(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.3(ATM):c.2269G>A (p.Gly757Arg) rs587779819
NM_000051.3(ATM):c.2275A>G (p.Ser759Gly) rs148705269
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.3(ATM):c.227G>A (p.Arg76Lys) rs1565346853
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2284C>G (p.Leu762Val) rs876659401
NM_000051.3(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.3(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.3(ATM):c.2332A>G (p.Asn778Asp) rs1555075751
NM_000051.3(ATM):c.2333A>G (p.Asn778Ser) rs587779820
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2338A>T (p.Met780Leu) rs587781446
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2354G>A (p.Arg785His) rs587782128
NM_000051.3(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.3(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.3(ATM):c.2399C>T (p.Ser800Phe) rs1196453563
NM_000051.3(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.3(ATM):c.2414G>A (p.Arg805Gln) rs587782255
NM_000051.3(ATM):c.2418G>T (p.Leu806Phe) rs587781296
NM_000051.3(ATM):c.241A>G (p.Asn81Asp) rs758962678
NM_000051.3(ATM):c.2425T>G (p.Ser809Ala) rs926246315
NM_000051.3(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.244G>A (p.Val82Ile) rs1412024666
NM_000051.3(ATM):c.2466+5G>C rs1064795969
NM_000051.3(ATM):c.2466A>C (p.Leu822Phe) rs747108452
NM_000051.3(ATM):c.2467-12T>C rs1469467036
NM_000051.3(ATM):c.2467-8C>G rs1425701157
NM_000051.3(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.3(ATM):c.2474T>G (p.Phe825Cys) rs1060501648
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2495G>A (p.Arg832His) rs199875915
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2498G>C (p.Gly833Ala) rs552010421
NM_000051.3(ATM):c.2501A>T (p.Glu834Val) rs730881349
NM_000051.3(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.3(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.3(ATM):c.2519A>T (p.Asp840Val) rs786202605
NM_000051.3(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.3(ATM):c.2552A>G (p.Asp851Gly) rs748203812
NM_000051.3(ATM):c.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.3(ATM):c.2578G>A (p.Asp860Asn) rs587779825
NM_000051.3(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.3(ATM):c.2581T>C (p.Tyr861His) rs1565416692
NM_000051.3(ATM):c.2590A>G (p.Ser864Gly) rs764842086
NM_000051.3(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.3(ATM):c.2603A>G (p.Asp868Gly) rs750322758
NM_000051.3(ATM):c.2606C>A (p.Ala869Glu)
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.3(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.3(ATM):c.263C>A (p.Ala88Asp) rs1565347056
NM_000051.3(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.3(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.3(ATM):c.2678A>T (p.Gln893Leu) rs876659776
NM_000051.3(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) rs147122522
NM_000051.3(ATM):c.2698A>G (p.Met900Val) rs138468963
NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) rs775371838
NM_000051.3(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.3(ATM):c.2728A>G (p.Thr910Ala) rs1265391373
NM_000051.3(ATM):c.2741A>G (p.Asn914Ser)
NM_000051.3(ATM):c.2744C>G (p.Thr915Ser) rs876660912
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.3(ATM):c.2762C>A (p.Ala921Asp) rs1555083332
NM_000051.3(ATM):c.2770C>T (p.Arg924Trp) rs55723361
NM_000051.3(ATM):c.2771G>A (p.Arg924Gln) rs587782298
NM_000051.3(ATM):c.277A>G (p.Lys93Glu) rs1555055234
NM_000051.3(ATM):c.2786T>C (p.Met929Thr) rs745737218
NM_000051.3(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.3(ATM):c.2800A>G (p.Ser934Gly) rs772054979
NM_000051.3(ATM):c.2804C>A (p.Thr935Lys)
NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.280A>G (p.Met94Val) rs864622758
NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) rs864622606
NM_000051.3(ATM):c.2818A>G (p.Lys940Glu) rs1064795896
NM_000051.3(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.3(ATM):c.2824C>T (p.Leu942Phe) rs3218688
NM_000051.3(ATM):c.2838+10G>A rs1555083482
NM_000051.3(ATM):c.2838+4A>G rs876659907
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-6T>C rs1338486619
NM_000051.3(ATM):c.2839-8C>A rs1555084596
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.3(ATM):c.2845A>C (p.Met949Leu) rs1348704826
NM_000051.3(ATM):c.2847G>A (p.Met949Ile) rs1565424213
NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) rs763064034
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2879C>A (p.Pro960His) rs587779828
NM_000051.3(ATM):c.2889G>A (p.Met963Ile) rs35098825
NM_000051.3(ATM):c.2894A>T (p.Asp965Val) rs876658628
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.2915C>T (p.Pro972Leu) rs750093937
NM_000051.3(ATM):c.2921C>T (p.Ser974Phe) rs538105098
NM_000051.3(ATM):c.2922-13T>C rs1565424946
NM_000051.3(ATM):c.2922-4A>G rs1555084924
NM_000051.3(ATM):c.2922-5C>T rs1452462211
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.292A>C (p.Ser98Arg) rs768318076
NM_000051.3(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.3(ATM):c.2942G>A (p.Arg981His) rs755896387
NM_000051.3(ATM):c.2944C>T (p.Arg982Cys) rs587779830
NM_000051.3(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.3(ATM):c.2953G>C (p.Asp985His) rs1210518784
NM_000051.3(ATM):c.2954A>G (p.Asp985Gly) rs864622159
NM_000051.3(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.3(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.3(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.3(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.3(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.3(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.3(ATM):c.2988T>G (p.His996Gln) rs559676197
NM_000051.3(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.3(ATM):c.3007C>G (p.Gln1003Glu) rs1555085143
NM_000051.3(ATM):c.3008A>T (p.Gln1003Leu) rs1064815
NM_000051.3(ATM):c.3011G>C (p.Ser1004Thr) rs1060501696
NM_000051.3(ATM):c.301G>A (p.Val101Ile) rs758483894
NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) rs587782163
NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.3(ATM):c.3077+5G>A rs777003996
NM_000051.3(ATM):c.3078-11C>A rs756972430
NM_000051.3(ATM):c.3083T>G (p.Leu1028Arg) rs1555085776
NM_000051.3(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.3(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.3(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.3(ATM):c.3106T>C (p.Phe1036Leu) rs747079458
NM_000051.3(ATM):c.3110C>T (p.Ser1037Phe) rs1555085821
NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.3(ATM):c.3133T>G (p.Cys1045Gly) rs1565427891
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.3(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.3(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.3(ATM):c.3151G>C (p.Glu1051Gln) rs774935453
NM_000051.3(ATM):c.3153+3G>T rs1565428067
NM_000051.3(ATM):c.3154-5_3154-4insAA rs1565428327
NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) rs876660350
NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) rs370282831
NM_000051.3(ATM):c.3176C>T (p.Ala1059Val) rs761590782
NM_000051.3(ATM):c.3181C>G (p.Leu1061Val) rs1565428509
NM_000051.3(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.3(ATM):c.3235G>A (p.Ala1079Thr) rs1565428827
NM_000051.3(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.3(ATM):c.3244C>T (p.His1082Tyr) rs1302626569
NM_000051.3(ATM):c.3249C>G (p.His1083Gln) rs1246816005
NM_000051.3(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.3(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.3(ATM):c.3265G>A (p.Ala1089Thr) rs730881358
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.3(ATM):c.3281A>G (p.Asn1094Ser) rs199883473
NM_000051.3(ATM):c.3285-5T>C rs876659715
NM_000051.3(ATM):c.3285-7T>C rs913535107
NM_000051.3(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.3(ATM):c.331+6T>G rs1555055363
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.3(ATM):c.3335C>T (p.Pro1112Leu) rs1064795850
NM_000051.3(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.3(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498
NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3403T>G (p.Ser1135Ala) rs1565441341
NM_000051.3(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) rs555219189
NM_000051.3(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588
NM_000051.3(ATM):c.3478G>C (p.Val1160Leu) rs567344545
NM_000051.3(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.3(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.3(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.3(ATM):c.349T>G (p.Cys117Gly) rs1555059059
NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) rs749933079
NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) rs200765255
NM_000051.3(ATM):c.3514G>C (p.Ala1172Pro) rs779946941
NM_000051.3(ATM):c.3514G>T (p.Ala1172Ser) rs779946941
NM_000051.3(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359
NM_000051.3(ATM):c.3544G>C (p.Glu1182Gln) rs377349886
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3563A>C (p.His1188Pro) rs12786960
NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.3(ATM):c.3575A>G (p.Lys1192Arg) rs1555091451
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
NM_000051.3(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.3(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.3(ATM):c.3628A>G (p.Met1210Val) rs138212452
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.3(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.3(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.3(ATM):c.3661T>A (p.Trp1221Arg) rs1565444832
NM_000051.3(ATM):c.3676G>C (p.Asp1226His) rs370974808
NM_000051.3(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.3(ATM):c.3680C>T (p.Thr1227Ile) rs1229454563
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3694T>C (p.Ser1232Pro)
NM_000051.3(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.3(ATM):c.3719A>G (p.Asn1240Ser) rs1555092536
NM_000051.3(ATM):c.3728A>G (p.Asn1243Ser) rs730881363
NM_000051.3(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.3(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.3(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.3(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.3(ATM):c.3793T>C (p.Phe1265Leu) rs371526361
NM_000051.3(ATM):c.379A>T (p.Thr127Ser) rs587781741
NM_000051.3(ATM):c.37C>T (p.Arg13Cys) rs141586345
NM_000051.3(ATM):c.3800A>T (p.Glu1267Val) rs781357995
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.3(ATM):c.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.3(ATM):c.3827A>G (p.Gln1276Arg) rs770183693
NM_000051.3(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.3(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.3886C>G (p.Pro1296Ala) rs864622654
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185
NM_000051.3(ATM):c.3917G>C (p.Ser1306Thr) rs1555093629
NM_000051.3(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.3(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3989A>G (p.Lys1330Arg) rs1565447970
NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) rs876658669
NM_000051.3(ATM):c.3993+3A>G rs771789242
NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) rs746709782
NM_000051.3(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.3(ATM):c.401G>A (p.Gly134Asp) rs771166271
NM_000051.3(ATM):c.4022C>T (p.Pro1341Leu) rs1555095890
NM_000051.3(ATM):c.4024G>A (p.Glu1342Lys) rs1555095899
NM_000051.3(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.3(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) rs587781785
NM_000051.3(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.3(ATM):c.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4088C>G (p.Thr1363Ser) rs1555096040
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.3(ATM):c.4108G>C (p.Gly1370Arg) rs1301806793
NM_000051.3(ATM):c.4109+6T>G rs368606937
NM_000051.3(ATM):c.4110-11A>T rs760715107
NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.3(ATM):c.4132C>A (p.Pro1378Thr) rs1555096817
NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4135C>T (p.Pro1379Ser) rs1555096828
NM_000051.3(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.3(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
NM_000051.3(ATM):c.4179C>G (p.Ile1393Met) rs775688446
NM_000051.3(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.3(ATM):c.4196C>A (p.Thr1399Asn) rs786203761
NM_000051.3(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4211T>C (p.Ile1404Thr) rs1555096989
NM_000051.3(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.3(ATM):c.4255_4257CTT[1] (p.Leu1420del) rs876659842
NM_000051.3(ATM):c.425G>A (p.Ser142Asn) rs755618506
NM_000051.3(ATM):c.4261G>A (p.Ala1421Thr) rs1555097395
NM_000051.3(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.3(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.3(ATM):c.4271A>G (p.Glu1424Gly) rs1555097423
NM_000051.3(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.3(ATM):c.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.3(ATM):c.4304A>C (p.Lys1435Thr) rs769980220
NM_000051.3(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.3(ATM):c.4306C>T (p.His1436Tyr) rs544891616
NM_000051.3(ATM):c.4321A>C (p.Ile1441Leu) rs774886013
NM_000051.3(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.3(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4329C>A (p.His1443Gln) rs377065665
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
NM_000051.3(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.3(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.3(ATM):c.4396C>G (p.Arg1466Gly) rs730881369
NM_000051.3(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.3(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.3(ATM):c.4420C>G (p.His1474Asp) rs587779840
NM_000051.3(ATM):c.4437-8_4437-7insA rs1565460797
NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) rs863224572
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
NM_000051.3(ATM):c.4447A>G (p.Ile1483Val) rs1281685502
NM_000051.3(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4466G>A (p.Arg1489His) rs201594549
NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) rs876658711
NM_000051.3(ATM):c.4471T>C (p.Phe1491Leu) rs587781944
NM_000051.3(ATM):c.4471T>G (p.Phe1491Val) rs587781944
NM_000051.3(ATM):c.4477C>T (p.Leu1493Phe) rs377595814
NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) rs759340881
NM_000051.3(ATM):c.4516G>T (p.Val1506Leu)
NM_000051.3(ATM):c.4523A>G (p.Tyr1508Cys) rs1565461319
NM_000051.3(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683
NM_000051.3(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) rs754058482
NM_000051.3(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.3(ATM):c.4574T>C (p.Ile1525Thr) rs755274980
NM_000051.3(ATM):c.4577C>T (p.Pro1526Leu) rs770590652
NM_000051.3(ATM):c.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.3(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4639A>T (p.Ile1547Leu) rs537377433
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4658A>G (p.Glu1553Gly) rs587778075
NM_000051.3(ATM):c.4663C>T (p.Leu1555Phe) rs1555100478
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.3(ATM):c.4673C>T (p.Thr1558Met) rs587781712
NM_000051.3(ATM):c.4687G>C (p.Asp1563His) rs1464587365
NM_000051.3(ATM):c.4700A>G (p.Asp1567Gly) rs1565463108
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4772T>C (p.Leu1591Ser) rs1565463381
NM_000051.3(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.3(ATM):c.4777-7C>G rs1565465976
NM_000051.3(ATM):c.4777-7_4777-6delCT rs1064794458
NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.3(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.3(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.3(ATM):c.4831C>G (p.Leu1611Val) rs1026156596
NM_000051.3(ATM):c.4835A>C (p.Glu1612Ala) rs1555101776
NM_000051.3(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.3(ATM):c.4849C>G (p.Leu1617Val) rs1006483748
NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) rs786203857
NM_000051.3(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.3(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.3(ATM):c.4909+4C>T rs587782125
NM_000051.3(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.3(ATM):c.490T>C (p.Trp164Arg) rs1060501699
NM_000051.3(ATM):c.4915C>G (p.Pro1639Ala) rs1565469722
NM_000051.3(ATM):c.4916C>T (p.Pro1639Leu) rs752459491
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.3(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.3(ATM):c.4945G>A (p.Val1649Ile) rs1565469893
NM_000051.3(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.3(ATM):c.495A>C (p.Leu165Phe) rs1555059544
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581
NM_000051.3(ATM):c.497-3A>G rs1046559213
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.3(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.3(ATM):c.49C>A (p.His17Asn) rs876658161
NM_000051.3(ATM):c.5002C>G (p.Leu1668Val) rs747317946
NM_000051.3(ATM):c.5005+19C>G rs1064794787
NM_000051.3(ATM):c.5006-3T>A rs761297488
NM_000051.3(ATM):c.5006-9T>C rs1565473375
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5018_5020GCT[1] (p.Cys1674del) rs1555104505
NM_000051.3(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.3(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.3(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.3(ATM):c.504C>G (p.Phe168Leu) rs1060504312
NM_000051.3(ATM):c.5056A>G (p.Ile1686Val) rs145453814
NM_000051.3(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.3(ATM):c.5063T>C (p.Ile1688Thr) rs199836342
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5087A>T (p.Tyr1696Phe) rs1555104673
NM_000051.3(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.3(ATM):c.5113G>A (p.Asp1705Asn) rs1565474013
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) rs747800057
NM_000051.3(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
NM_000051.3(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.3(ATM):c.5167G>A (p.Val1723Ile) rs1565474312
NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.3(ATM):c.518G>T (p.Arg173Met) rs372694758
NM_000051.3(ATM):c.5195C>G (p.Ala1732Gly) rs1565476801
NM_000051.3(ATM):c.5204C>G (p.Thr1735Ser) rs1555105650
NM_000051.3(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5233A>C (p.Thr1745Pro) rs587782532
NM_000051.3(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.3(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5250G>T (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5258A>C (p.Tyr1753Ser) rs777481236
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.3(ATM):c.526C>G (p.Leu176Val) rs375798802
NM_000051.3(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.3(ATM):c.5278A>G (p.Met1760Val) rs151327241
NM_000051.3(ATM):c.5278A>T (p.Met1760Leu) rs151327241
NM_000051.3(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+5C>G rs1565477462
NM_000051.3(ATM):c.5319+7T>A rs925428128
NM_000051.3(ATM):c.5324T>C (p.Leu1775Ser) rs1256064321
NM_000051.3(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.3(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5369A>G (p.Asp1790Gly) rs746945284
NM_000051.3(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.3(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
NM_000051.3(ATM):c.5416A>C (p.Ile1806Leu) rs1565479163
NM_000051.3(ATM):c.5417T>C (p.Ile1806Thr) rs773546064
NM_000051.3(ATM):c.5418A>G (p.Ile1806Met) rs763020528
NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) rs199885813
NM_000051.3(ATM):c.5470C>T (p.Leu1824Phe) rs764784077
NM_000051.3(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.3(ATM):c.5476_5478TTA[1] (p.Leu1827del)
NM_000051.3(ATM):c.5489T>C (p.Met1830Thr) rs145812395
NM_000051.3(ATM):c.5490G>A (p.Met1830Ile) rs779720793
NM_000051.3(ATM):c.5496+4A>G rs1565479590
NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.5534T>C (p.Leu1845Ser) rs1555107319
NM_000051.3(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.3(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.3(ATM):c.5557_5558delinsAT (p.Asp1853Ile) rs1555107380
NM_000051.3(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.3(ATM):c.5566G>A (p.Glu1856Lys) rs1465041573
NM_000051.3(ATM):c.5575A>G (p.Arg1859Gly) rs1565481925
NM_000051.3(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.3(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.3(ATM):c.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) rs538452060
NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239
NM_000051.3(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.3(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.5651C>T (p.Thr1884Ile) rs1565482352
NM_000051.3(ATM):c.5653A>G (p.Thr1885Ala) rs587779850
NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) rs587779850
NM_000051.3(ATM):c.5666T>G (p.Leu1889Trp) rs1555107606
NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) rs730881375
NM_000051.3(ATM):c.5675-13T>A rs373219694
NM_000051.3(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.3(ATM):c.56G>C (p.Arg19Thr) rs1064793029
NM_000051.3(ATM):c.5725A>G (p.Met1909Val) rs750561317
NM_000051.3(ATM):c.5728C>A (p.Leu1910Ile) rs143577586
NM_000051.3(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
NM_000051.3(ATM):c.5750G>A (p.Arg1917Lys) rs377289524
NM_000051.3(ATM):c.5750G>C (p.Arg1917Thr) rs377289524
NM_000051.3(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.3(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.3(ATM):c.5762+6G>A rs776532221
NM_000051.3(ATM):c.590G>A (p.Gly197Glu) rs753806542
NM_000051.3(ATM):c.5G>A (p.Ser2Asn) rs730881360
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.3(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.3(ATM):c.632A>T (p.Asp211Val) rs1387925127
NM_000051.3(ATM):c.640T>C (p.Ser214Pro) rs747053710
NM_000051.3(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.3(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.662+6C>G rs1565369978
NM_000051.3(ATM):c.665A>C (p.Gln222Pro) rs1565370993
NM_000051.3(ATM):c.668A>G (p.Glu223Gly) rs776227830
NM_000051.3(ATM):c.670A>G (p.Lys224Glu) rs145053092
NM_000051.3(ATM):c.672G>T (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.3(ATM):c.680C>T (p.Ser227Leu) rs762998620
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.692A>C (p.His231Pro) rs587782229
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.699_701AGC[1] (p.Ala235del)
NM_000051.3(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.3(ATM):c.709A>G (p.Thr237Ala) rs376529329
NM_000051.3(ATM):c.70A>G (p.Lys24Glu) rs1469464426
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.3(ATM):c.73-3del rs1565344403
NM_000051.3(ATM):c.73-4T>C rs1565344387
NM_000051.3(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.3(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.3(ATM):c.763G>C (p.Gly255Arg)
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.773T>A (p.Ile258Asn) rs730881337
NM_000051.3(ATM):c.776T>A (p.Leu259His) rs1565371619
NM_000051.3(ATM):c.787C>T (p.Leu263Phe) rs876659531
NM_000051.3(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.3(ATM):c.811C>A (p.Leu271Ile) rs730881339
NM_000051.3(ATM):c.811C>T (p.Leu271Phe) rs730881339
NM_000051.3(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.3(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.3(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.3(ATM):c.862T>C (p.Tyr288His) rs1565372057
NM_000051.3(ATM):c.884C>A (p.Ala295Asp) rs1044092081
NM_000051.3(ATM):c.894A>C (p.Gln298His) rs1555067327
NM_000051.3(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.3(ATM):c.901+3A>T rs786203070
NM_000051.3(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.917C>G (p.Thr306Arg) rs1565374923
NM_000051.3(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.3(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.3(ATM):c.931A>G (p.Ile311Val) rs876658322
NM_000051.3(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.3(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.3(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.977T>C (p.Ile326Thr) rs768720856
NM_000051.3(ATM):c.982A>C (p.Ser328Arg) rs1555068433
NM_000051.3(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.3(ATM):c.986G>A (p.Arg329Lys) rs776938735

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