ClinVar Miner

List of variants in gene MET reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1667
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.280G>C (p.Asp94His) rs899151863 0.00008
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000245.4(MET):c.3811G>A (p.Val1271Met) rs751186512 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.428G>A (p.Arg143Gln) rs35469582 0.00004
NM_000245.4(MET):c.510C>G (p.Ser170Arg) rs587778442 0.00004
NM_000245.4(MET):c.1235G>A (p.Arg412His) rs371463233 0.00003
NM_000245.4(MET):c.1279G>A (p.Val427Ile) rs376364468 0.00003
NM_000245.4(MET):c.1291A>G (p.Met431Val) rs766929091 0.00003
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1643C>T (p.Ser548Leu) rs767715328 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn) rs752641437 0.00003
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr) rs1177400289 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.37G>A (p.Val13Met) rs781777052 0.00003
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys) rs747239403 0.00003
NM_000245.4(MET):c.682T>C (p.Phe228Leu) rs921083171 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000245.4(MET):c.1027T>C (p.Phe343Leu) rs774022115 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.1343G>A (p.Gly448Glu) rs750256779 0.00002
NM_000245.4(MET):c.1382G>A (p.Arg461His) rs544274181 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000245.4(MET):c.1749A>G (p.Ile583Met) rs776805376 0.00002
NM_000245.4(MET):c.1766G>T (p.Gly589Val) rs943753621 0.00002
NM_000245.4(MET):c.1906A>G (p.Met636Val) rs761183186 0.00002
NM_000245.4(MET):c.2215C>T (p.Arg739Cys) rs45587940 0.00002
NM_000245.4(MET):c.2326G>C (p.Val776Leu) rs771976817 0.00002
NM_000245.4(MET):c.232C>T (p.Leu78Phe) rs766815155 0.00002
NM_000245.4(MET):c.2344G>A (p.Ala782Thr) rs1262601648 0.00002
NM_000245.4(MET):c.2377C>T (p.Arg793Cys) rs45440991 0.00002
NM_000245.4(MET):c.2437C>A (p.Leu813Ile) rs745345346 0.00002
NM_000245.4(MET):c.2455G>A (p.Ala819Thr) rs786203672 0.00002
NM_000245.4(MET):c.2585G>C (p.Gly862Ala) rs1394626435 0.00002
NM_000245.4(MET):c.2702T>C (p.Leu901Pro) rs755194593 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.2787G>C (p.Gln929His) rs908653562 0.00002
NM_000245.4(MET):c.3034T>C (p.Phe1012Leu) rs376243090 0.00002
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412 0.00002
NM_000245.4(MET):c.3355G>A (p.Gly1119Arg) rs1191752014 0.00002
NM_000245.4(MET):c.3451G>A (p.Gly1151Arg) rs534974144 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp) rs374383028 0.00002
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.4127A>C (p.Asp1376Ala) rs760339018 0.00002
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.535G>A (p.Ala179Thr) rs753697730 0.00002
NM_000245.4(MET):c.623A>G (p.Asp208Gly) rs587782086 0.00002
NM_000245.4(MET):c.781T>C (p.Phe261Leu) rs765061513 0.00002
NM_000245.4(MET):c.852A>G (p.Ile284Met) rs759227622 0.00002
NM_000245.4(MET):c.1029C>G (p.Phe343Leu) rs56340719 0.00001
NM_000245.4(MET):c.102G>C (p.Glu34Asp) rs1296330997 0.00001
NM_000245.4(MET):c.1033G>T (p.Val345Leu) rs1232896056 0.00001
NM_000245.4(MET):c.107A>G (p.Asn36Ser) rs1282716584 0.00001
NM_000245.4(MET):c.1099A>G (p.Ile367Val) rs774146015 0.00001
NM_000245.4(MET):c.109G>T (p.Val37Leu) rs863224692 0.00001
NM_000245.4(MET):c.1159C>T (p.Gln387Ter) rs757846126 0.00001
NM_000245.4(MET):c.1171G>A (p.Gly391Arg) rs587778443 0.00001
NM_000245.4(MET):c.1178A>G (p.Asn393Ser) rs754635450 0.00001
NM_000245.4(MET):c.1183G>A (p.Glu395Lys) rs778469367 0.00001
NM_000245.4(MET):c.1222G>A (p.Gly408Ser) rs1289461217 0.00001
NM_000245.4(MET):c.1232C>T (p.Ala411Val) rs201154533 0.00001
NM_000245.4(MET):c.1237C>T (p.Arg413Cys) rs201980687 0.00001
NM_000245.4(MET):c.1241A>C (p.Asp414Ala) rs1554388638 0.00001
NM_000245.4(MET):c.1242T>A (p.Asp414Glu) rs1230741853 0.00001
NM_000245.4(MET):c.1277G>A (p.Arg426His) rs986139438 0.00001
NM_000245.4(MET):c.1303A>G (p.Ser435Gly) rs1186230260 0.00001
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) rs200740468 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.1392+5G>C rs386833405 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.146A>G (p.Glu49Gly) rs370499060 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1490A>G (p.Asn497Ser) rs753713629 0.00001
NM_000245.4(MET):c.1527+6C>T rs1793387165 0.00001
NM_000245.4(MET):c.154A>G (p.Ile52Val) rs777336138 0.00001
NM_000245.4(MET):c.1552T>A (p.Leu518Met) rs780293990 0.00001
NM_000245.4(MET):c.1562G>A (p.Arg521Lys) rs1404664878 0.00001
NM_000245.4(MET):c.1604T>C (p.Phe535Ser) rs1402713307 0.00001
NM_000245.4(MET):c.1660G>A (p.Gly554Arg) rs200218511 0.00001
NM_000245.4(MET):c.1663A>G (p.Thr555Ala) rs370883654 0.00001
NM_000245.4(MET):c.1677G>T (p.Gln559His) rs1290346524 0.00001
NM_000245.4(MET):c.1693A>G (p.Ile565Val) rs745479104 0.00001
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys) rs1445578353 0.00001
NM_000245.4(MET):c.1699A>G (p.Lys567Glu) rs769592729 0.00001
NM_000245.4(MET):c.1702-3T>C rs754686930 0.00001
NM_000245.4(MET):c.1706T>C (p.Phe569Ser) rs778626291 0.00001
NM_000245.4(MET):c.1739G>A (p.Arg580Lys) rs201975130 0.00001
NM_000245.4(MET):c.173A>G (p.His58Arg) rs374578653 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.180T>A (p.His60Gln) rs745740862 0.00001
NM_000245.4(MET):c.1858A>G (p.Asn620Asp) rs372116735 0.00001
NM_000245.4(MET):c.1863-3C>T rs1160304097 0.00001
NM_000245.4(MET):c.1898A>G (p.His633Arg) rs45586239 0.00001
NM_000245.4(MET):c.1904A>G (p.Asn635Ser) rs773826297 0.00001
NM_000245.4(MET):c.1907T>A (p.Met636Lys) rs775011117 0.00001
NM_000245.4(MET):c.196G>T (p.Ala66Ser) rs770341307 0.00001
NM_000245.4(MET):c.1986T>G (p.Ile662Met) rs1408351682 0.00001
NM_000245.4(MET):c.199A>G (p.Thr67Ala) rs202047059 0.00001
NM_000245.4(MET):c.2076T>G (p.Ile692Met) rs752740791 0.00001
NM_000245.4(MET):c.2102+6G>A rs757561412 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.2152A>C (p.Thr718Pro) rs1794275099 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2192G>A (p.Arg731Gln) rs45446492 0.00001
NM_000245.4(MET):c.2260A>G (p.Ile754Val) rs1060503539 0.00001
NM_000245.4(MET):c.2264+5G>A rs745547523 0.00001
NM_000245.4(MET):c.2265-23A>G rs750004615 0.00001
NM_000245.4(MET):c.2265-26G>A rs552953455 0.00001
NM_000245.4(MET):c.2278A>G (p.Ile760Val) rs786202191 0.00001
NM_000245.4(MET):c.2303A>G (p.Asn768Ser) rs749126070 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2333A>C (p.Asn778Thr) rs1205392044 0.00001
NM_000245.4(MET):c.2339A>G (p.His780Arg) rs375523121 0.00001
NM_000245.4(MET):c.2357T>C (p.Phe786Ser) rs1794313226 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2381C>G (p.Ser794Cys) rs371939364 0.00001
NM_000245.4(MET):c.2393T>G (p.Ile798Arg) rs764960693 0.00001
NM_000245.4(MET):c.2414C>T (p.Ser805Phe) rs1410859976 0.00001
NM_000245.4(MET):c.241G>T (p.Val81Phe) rs757883355 0.00001
NM_000245.4(MET):c.2435A>C (p.Gln812Pro) rs777833095 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2441C>T (p.Pro814Leu) rs781452657 0.00001
NM_000245.4(MET):c.2466G>A (p.Met822Ile) rs780538636 0.00001
NM_000245.4(MET):c.2471A>G (p.Asp824Gly) rs1446482547 0.00001
NM_000245.4(MET):c.2493T>G (p.Phe831Leu) rs749730267 0.00001
NM_000245.4(MET):c.249G>C (p.Glu83Asp) rs751158831 0.00001
NM_000245.4(MET):c.2501T>C (p.Ile834Thr) rs1215872095 0.00001
NM_000245.4(MET):c.2527C>G (p.Pro843Ala) rs905891313 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2554A>G (p.Met852Val) rs762863861 0.00001
NM_000245.4(MET):c.2591A>G (p.Asp864Gly) rs778309347 0.00001
NM_000245.4(MET):c.2600C>G (p.Pro867Arg) rs983062105 0.00001
NM_000245.4(MET):c.2613A>C (p.Lys871Asn) rs1385709850 0.00001
NM_000245.4(MET):c.2693A>G (p.Asn898Ser) rs766430458 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr) rs1313347428 0.00001
NM_000245.4(MET):c.2714G>A (p.Ser905Asn) rs753091019 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.2731-9C>G rs1794829593 0.00001
NM_000245.4(MET):c.2795C>T (p.Thr932Ile) rs758486777 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.280G>T (p.Asp94Tyr) rs899151863 0.00001
NM_000245.4(MET):c.281A>G (p.Asp94Gly) rs368328347 0.00001
NM_000245.4(MET):c.2851T>C (p.Phe951Leu) rs756670611 0.00001
NM_000245.4(MET):c.2870A>G (p.Lys957Arg) rs1794836962 0.00001
NM_000245.4(MET):c.2905G>C (p.Val969Leu) rs757925979 0.00001
NM_000245.4(MET):c.2914G>A (p.Asp972Asn) rs756031094 0.00001
NM_000245.4(MET):c.2974A>G (p.Thr992Ala) rs774433287 0.00001
NM_000245.4(MET):c.2977A>G (p.Thr993Ala) rs587778441 0.00001
NM_000245.4(MET):c.2986G>A (p.Val996Ile) rs773447798 0.00001
NM_000245.4(MET):c.302G>A (p.Cys101Tyr) rs1791473684 0.00001
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu) rs565938550 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000245.4(MET):c.306C>G (p.Ser102Arg) rs749383450 0.00001
NM_000245.4(MET):c.308G>A (p.Ser103Asn) rs768675699 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000245.4(MET):c.3095C>T (p.Ser1032Phe) rs1201989602 0.00001
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr) rs1794949971 0.00001
NM_000245.4(MET):c.3134C>G (p.Pro1045Arg) rs1554398862 0.00001
NM_000245.4(MET):c.3149C>G (p.Thr1050Ser) rs1179812872 0.00001
NM_000245.4(MET):c.3152T>C (p.Val1051Ala) rs1319458719 0.00001
NM_000245.4(MET):c.3155A>G (p.His1052Arg) rs763398740 0.00001
NM_000245.4(MET):c.3157A>T (p.Ile1053Phe) rs1278254320 0.00001
NM_000245.4(MET):c.3192G>C (p.Gln1064His) rs974352099 0.00001
NM_000245.4(MET):c.319T>G (p.Leu107Val) rs1791474714 0.00001
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg) rs1554398900 0.00001
NM_000245.4(MET):c.3208G>A (p.Val1070Met) rs760285693 0.00001
NM_000245.4(MET):c.3220A>G (p.Ser1074Gly) rs764947837 0.00001
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser) rs1794954978 0.00001
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser) rs764213589 0.00001
NM_000245.4(MET):c.3250A>G (p.Ile1084Val) rs757539632 0.00001
NM_000245.4(MET):c.331G>A (p.Val111Ile) rs368750834 0.00001
NM_000245.4(MET):c.3397G>C (p.Asp1133His) rs745437003 0.00001
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys) rs1394199299 0.00001
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu) rs375395179 0.00001
NM_000245.4(MET):c.3430G>A (p.Gly1144Arg) rs1795070539 0.00001
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln) rs761808213 0.00001
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter) rs200754673 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala) rs779636840 0.00001
NM_000245.4(MET):c.3539A>T (p.Asp1180Val) rs751961995 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.362T>C (p.Val121Ala) rs879254339 0.00001
NM_000245.4(MET):c.3685A>G (p.Met1229Val) rs768125521 0.00001
NM_000245.4(MET):c.3686T>C (p.Met1229Thr) rs1193542215 0.00001
NM_000245.4(MET):c.3727G>A (p.Ala1243Thr) rs752351789 0.00001
NM_000245.4(MET):c.377A>G (p.Tyr126Cys) rs542267057 0.00001
NM_000245.4(MET):c.3859G>A (p.Val1287Ile) rs780102059 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000245.4(MET):c.3916G>A (p.Glu1306Lys) rs1436537175 0.00001
NM_000245.4(MET):c.391A>G (p.Ile131Val) rs1309236031 0.00001
NM_000245.4(MET):c.3935+6T>C rs1301383613 0.00001
NM_000245.4(MET):c.3937T>C (p.Tyr1313His) rs1290917552 0.00001
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln) rs1159812687 0.00001
NM_000245.4(MET):c.3960G>A (p.Trp1320Ter) rs1174194833 0.00001
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys) rs587778444 0.00001
NM_000245.4(MET):c.3980G>A (p.Arg1327His) rs1443741792 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.400G>A (p.Gly134Ser) rs1584876675 0.00001
NM_000245.4(MET):c.4018A>G (p.Ile1340Val) rs1060503543 0.00001
NM_000245.4(MET):c.4042C>A (p.His1348Asn) rs773772398 0.00001
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr) rs766190061 0.00001
NM_000245.4(MET):c.4097C>A (p.Pro1366His) rs778084120 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.4151C>G (p.Ala1384Gly) rs202166889 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.427C>T (p.Arg143Ter) rs779093896 0.00001
NM_000245.4(MET):c.433G>A (p.Val145Ile) rs1410705895 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.447T>G (p.Asn149Lys) rs974448652 0.00001
NM_000245.4(MET):c.448C>T (p.His150Tyr) rs1436957498 0.00001
NM_000245.4(MET):c.462A>G (p.Ile154Met) rs771146873 0.00001
NM_000245.4(MET):c.481A>G (p.Ile161Val) rs1584876914 0.00001
NM_000245.4(MET):c.490C>G (p.Pro164Ala) rs765759353 0.00001
NM_000245.4(MET):c.508A>C (p.Ser170Arg) rs750102016 0.00001
NM_000245.4(MET):c.50C>T (p.Thr17Ile) rs747777018 0.00001
NM_000245.4(MET):c.527T>C (p.Val176Ala) rs1343674412 0.00001
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487 0.00001
NM_000245.4(MET):c.553C>A (p.Leu185Ile) rs376097698 0.00001
NM_000245.4(MET):c.572G>A (p.Arg191Gln) rs879254342 0.00001
NM_000245.4(MET):c.599C>A (p.Thr200Asn) rs786202727 0.00001
NM_000245.4(MET):c.620C>G (p.Pro207Arg) rs1246281148 0.00001
NM_000245.4(MET):c.625C>T (p.His209Tyr) rs866183824 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.670G>T (p.Asp224Tyr) rs765257726 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.716C>T (p.Pro239Leu) rs45551737 0.00001
NM_000245.4(MET):c.769A>G (p.Asn257Asp) rs776407390 0.00001
NM_000245.4(MET):c.776T>C (p.Ile259Thr) rs587780548 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.840G>T (p.Arg280Ser) rs1207381066 0.00001
NM_000245.4(MET):c.866A>G (p.His289Arg) rs1584877845 0.00001
NM_000245.4(MET):c.874A>C (p.Met292Leu) rs1395827839 0.00001
NM_000245.4(MET):c.983A>G (p.Gln328Arg) rs1165913241 0.00001
NC_000007.13:g.(?_116339129)_(116340348_?)dup
NC_000007.13:g.(?_116339133)_(116399550_?)dup
NC_000007.13:g.(?_116339139)_(116411718_?)dup
NC_000007.13:g.(?_116339139)_(116436178_?)del
NC_000007.13:g.(?_116339139)_(116436178_?)dup
NC_000007.13:g.(?_116371712)_(116436178_?)dup
NC_000007.13:g.(?_116380902)_(116403184_?)del
NC_000007.13:g.(?_116395399)_(116395579_?)dup
NC_000007.13:g.(?_116417433)_(116436178_?)dup
NC_000007.13:g.(?_116435699)_(116436178_?)dup
NC_000007.14:g.(?_116699075)_(116796134_?)dup
NC_000007.14:g.(?_116699085)_(116700294_?)dup
NC_000007.14:g.(?_116740842)_(116796134_?)dup
NC_000007.14:g.(?_116740846)_(116741031_?)del
NM_000245.4(MET):c.-12_17del (p.Met1fs) rs1562882716
NM_000245.4(MET):c.1001G>A (p.Gly334Glu) rs2116603002
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.1009C>A (p.Leu337Met) rs1246936382
NM_000245.4(MET):c.100G>C (p.Glu34Gln) rs764246939
NM_000245.4(MET):c.1010T>A (p.Leu337Gln) rs2116603244
NM_000245.4(MET):c.1015G>A (p.Asp339Asn) rs1463245808
NM_000245.4(MET):c.1018G>A (p.Asp340Asn) rs769544894
NM_000245.4(MET):c.1018G>C (p.Asp340His) rs769544894
NM_000245.4(MET):c.1021A>G (p.Ile341Val) rs1791513686
NM_000245.4(MET):c.1021A>T (p.Ile341Phe)
NM_000245.4(MET):c.1024C>A (p.Leu342Ile)
NM_000245.4(MET):c.1024C>G (p.Leu342Val) rs749082043
NM_000245.4(MET):c.1029C>A (p.Phe343Leu)
NM_000245.4(MET):c.1033G>A (p.Val345Met) rs1232896056
NM_000245.4(MET):c.1033del (p.Val345fs) rs1791514332
NM_000245.4(MET):c.1036T>C (p.Phe346Leu) rs1791514789
NM_000245.4(MET):c.1039G>T (p.Ala347Ser)
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
NM_000245.4(MET):c.1046G>A (p.Ser349Asn) rs1584878246
NM_000245.4(MET):c.1048A>C (p.Lys350Gln) rs201191014
NM_000245.4(MET):c.1048A>G (p.Lys350Glu)
NM_000245.4(MET):c.104T>C (p.Met35Thr)
NM_000245.4(MET):c.1051C>G (p.Pro351Ala) rs587782807
NM_000245.4(MET):c.1051C>T (p.Pro351Ser) rs587782807
NM_000245.4(MET):c.1052C>T (p.Pro351Leu)
NM_000245.4(MET):c.1054G>A (p.Asp352Asn)
NM_000245.4(MET):c.1055A>T (p.Asp352Val)
NM_000245.4(MET):c.1056T>G (p.Asp352Glu) rs2116604421
NM_000245.4(MET):c.1058C>T (p.Ser353Phe) rs1791516755
NM_000245.4(MET):c.105G>A (p.Met35Ile) rs376244358
NM_000245.4(MET):c.1063G>T (p.Glu355Ter) rs561295443
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
NM_000245.4(MET):c.1066C>T (p.Pro356Ser)
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
NM_000245.4(MET):c.1069A>G (p.Met357Val) rs1554379058
NM_000245.4(MET):c.1071G>A (p.Met357Ile) rs1246645896
NM_000245.4(MET):c.1072G>C (p.Asp358His) rs758919662
NM_000245.4(MET):c.1073A>C (p.Asp358Ala) rs1326405747
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
NM_000245.4(MET):c.1076G>T (p.Arg359Leu) rs201274041
NM_000245.4(MET):c.1079C>T (p.Ser360Phe) rs2116604992
NM_000245.4(MET):c.1081G>A (p.Ala361Thr)
NM_000245.4(MET):c.1081G>C (p.Ala361Pro) rs786202310
NM_000245.4(MET):c.1082C>T (p.Ala361Val) rs949765512
NM_000245.4(MET):c.1084A>C (p.Met362Leu) rs1791519202
NM_000245.4(MET):c.1084A>G (p.Met362Val)
NM_000245.4(MET):c.1086G>A (p.Met362Ile) rs779724665
NM_000245.4(MET):c.1086G>C (p.Met362Ile) rs779724665
NM_000245.4(MET):c.1086G>T (p.Met362Ile)
NM_000245.4(MET):c.1087T>C (p.Cys363Arg)
NM_000245.4(MET):c.1088G>A (p.Cys363Tyr) rs1472858680
NM_000245.4(MET):c.1090G>A (p.Ala364Thr) rs200016433
NM_000245.4(MET):c.1091C>T (p.Ala364Val)
NM_000245.4(MET):c.1096C>G (p.Pro366Ala)
NM_000245.4(MET):c.1100T>A (p.Ile367Asn)
NM_000245.4(MET):c.1106A>G (p.Tyr369Cys) rs370314484
NM_000245.4(MET):c.1108G>A (p.Val370Ile)
NM_000245.4(MET):c.1108G>T (p.Val370Phe)
NM_000245.4(MET):c.1113C>A (p.Asn371Lys) rs772014416
NM_000245.4(MET):c.1113C>G (p.Asn371Lys) rs772014416
NM_000245.4(MET):c.1123A>G (p.Asn375Asp) rs1375932394
NM_000245.4(MET):c.1125C>A (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
NM_000245.4(MET):c.1129A>G (p.Ile377Val) rs1554379158
NM_000245.4(MET):c.1130T>G (p.Ile377Ser) rs1791521654
NM_000245.4(MET):c.1131C>G (p.Ile377Met) rs28444388
NM_000245.4(MET):c.1133T>G (p.Val378Gly) rs2116606225
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1142A>G (p.Asn381Ser)
NM_000245.4(MET):c.1144A>T (p.Asn382Tyr) rs1791522873
NM_000245.4(MET):c.1145A>T (p.Asn382Ile) rs2116606480
NM_000245.4(MET):c.114T>A (p.Asn38Lys) rs863224693
NM_000245.4(MET):c.1152A>G (p.Arg384=) rs2116606658
NM_000245.4(MET):c.1153T>A (p.Cys385Ser) rs1562884601
NM_000245.4(MET):c.1157T>A (p.Leu386His) rs1554379180
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1160A>G (p.Gln387Arg) rs1791523699
NM_000245.4(MET):c.1164T>A (p.His388Gln) rs1791523904
NM_000245.4(MET):c.116T>A (p.Met39Lys) rs879254330
NM_000245.4(MET):c.116T>C (p.Met39Thr) rs879254330
NM_000245.4(MET):c.1172G>T (p.Gly391Val) rs1584878602
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1175C>A (p.Pro392His)
NM_000245.4(MET):c.1179T>A (p.Asn393Lys)
NM_000245.4(MET):c.117G>A (p.Met39Ile)
NM_000245.4(MET):c.1180C>A (p.His394Asn) rs201628326
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr) rs1584878668
NM_000245.4(MET):c.1187A>C (p.His396Pro) rs2116607543
NM_000245.4(MET):c.1190G>A (p.Cys397Tyr)
NM_000245.4(MET):c.1192T>C (p.Phe398Leu)
NM_000245.4(MET):c.1199G>A (p.Arg400Lys) rs2116607774
NM_000245.4(MET):c.119A>T (p.Lys40Met) rs1210616219
NM_000245.4(MET):c.1200+10A>G rs746880479
NM_000245.4(MET):c.1200+2T>C
NM_000245.4(MET):c.1200+3A>G
NM_000245.4(MET):c.1200+6T>A
NM_000245.4(MET):c.1204C>A (p.Leu402Ile) rs45441497
NM_000245.4(MET):c.1207C>A (p.Leu403Met) rs202236031
NM_000245.4(MET):c.1208T>C (p.Leu403Pro) rs761254993
NM_000245.4(MET):c.1217C>T (p.Ser406Leu)
NM_000245.4(MET):c.1220C>T (p.Ser407Leu) rs764580322
NM_000245.4(MET):c.1222G>T (p.Gly408Cys)
NM_000245.4(MET):c.1226G>A (p.Cys409Tyr)
NM_000245.4(MET):c.1228G>A (p.Glu410Lys) rs1793009396
NM_000245.4(MET):c.122A>G (p.Tyr41Cys) rs780358093
NM_000245.4(MET):c.1231G>A (p.Ala411Thr) rs752281264
NM_000245.4(MET):c.1238G>C (p.Arg413Pro) rs375391602
NM_000245.4(MET):c.1238G>T (p.Arg413Leu) rs375391602
NM_000245.4(MET):c.1249C>T (p.Arg417Ter)
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504
NM_000245.4(MET):c.1250G>C (p.Arg417Pro) rs2116780504
NM_000245.4(MET):c.1253C>T (p.Thr418Ile) rs2116780591
NM_000245.4(MET):c.1265C>T (p.Thr422Ile) rs1793012257
NM_000245.4(MET):c.1267G>A (p.Ala423Thr) rs922296506
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
NM_000245.4(MET):c.1274A>G (p.Gln425Arg) rs1793013042
NM_000245.4(MET):c.1276C>T (p.Arg426Cys) rs774779741
NM_000245.4(MET):c.1280T>C (p.Val427Ala) rs773626056
NM_000245.4(MET):c.1283A>G (p.Asp428Gly)
NM_000245.4(MET):c.1285T>A (p.Leu429Ile) rs911380470
NM_000245.4(MET):c.1286T>C (p.Leu429Ser)
NM_000245.4(MET):c.1287A>C (p.Leu429Phe) rs1793014361
NM_000245.4(MET):c.1288T>C (p.Phe430Leu) rs2116781526
NM_000245.4(MET):c.128T>C (p.Leu43Pro) rs1487106127
NM_000245.4(MET):c.1290C>G (p.Phe430Leu) rs1194542748
NM_000245.4(MET):c.1295G>A (p.Gly432Asp) rs2116781776
NM_000245.4(MET):c.1297C>G (p.Gln433Glu) rs1584914144
NM_000245.4(MET):c.1298A>G (p.Gln433Arg) rs774952152
NM_000245.4(MET):c.1299A>G (p.Gln433=) rs201326561
NM_000245.4(MET):c.1303A>T (p.Ser435Cys) rs1186230260
NM_000245.4(MET):c.1304G>A (p.Ser435Asn) rs199761604
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.1309G>A (p.Val437Ile) rs1584914185
NM_000245.4(MET):c.130C>T (p.Pro44Ser) rs1474436542
NM_000245.4(MET):c.1310T>C (p.Val437Ala)
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1318A>C (p.Thr440Pro) rs1793016615
NM_000245.4(MET):c.131C>A (p.Pro44His) rs1554378225
NM_000245.4(MET):c.1322C>G (p.Ser441Cys) rs751158986
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.1331C>T (p.Thr444Ile) rs1793017472
NM_000245.4(MET):c.1333T>C (p.Phe445Leu)
NM_000245.4(MET):c.1333T>G (p.Phe445Val) rs1793017605
NM_000245.4(MET):c.1336A>C (p.Ile446Leu)
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
NM_000245.4(MET):c.133A>G (p.Asn45Asp)
NM_000245.4(MET):c.1340A>G (p.Lys447Arg) rs1584914259
NM_000245.4(MET):c.1347C>A (p.Asp449Glu) rs2116783251
NM_000245.4(MET):c.1348C>G (p.Leu450Val)
NM_000245.4(MET):c.1348C>T (p.Leu450Phe) rs1793018571
NM_000245.4(MET):c.134A>G (p.Asn45Ser) rs77651398
NM_000245.4(MET):c.1354A>G (p.Ile452Val) rs1793018926
NM_000245.4(MET):c.1357G>A (p.Ala453Thr) rs1793019219
NM_000245.4(MET):c.1360A>C (p.Asn454His) rs1793019649
NM_000245.4(MET):c.1361A>G (p.Asn454Ser)
NM_000245.4(MET):c.1361A>T (p.Asn454Ile) rs587780734
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1363C>T (p.Leu455Phe) rs780077898
NM_000245.4(MET):c.1364T>C (p.Leu455Pro)
NM_000245.4(MET):c.1366G>A (p.Gly456Arg) rs1793020405
NM_000245.4(MET):c.1367_1370del (p.Gly456fs) rs1793020534
NM_000245.4(MET):c.1370C>T (p.Thr457Ile)
NM_000245.4(MET):c.1378G>A (p.Gly460Ser)
NM_000245.4(MET):c.1381C>A (p.Arg461Ser)
NM_000245.4(MET):c.1381C>G (p.Arg461Gly)
NM_000245.4(MET):c.1381C>T (p.Arg461Cys) rs1584914359
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
NM_000245.4(MET):c.1388T>G (p.Met463Arg) rs1584914382
NM_000245.4(MET):c.1392+1G>T rs1584914409
NM_000245.4(MET):c.1392+3A>C
NM_000245.4(MET):c.1392+3A>G
NM_000245.4(MET):c.1392+5G>A rs386833405
NM_000245.4(MET):c.1392+6T>C
NM_000245.4(MET):c.1392+6T>G rs1793022563
NM_000245.4(MET):c.1393G>A (p.Val465Ile) rs754969545
NM_000245.4(MET):c.1397T>C (p.Val466Ala)
NM_000245.4(MET):c.1399G>A (p.Val467Ile) rs1004264326
NM_000245.4(MET):c.1399G>T (p.Val467Phe) rs1004264326
NM_000245.4(MET):c.139A>T (p.Thr47Ser)
NM_000245.4(MET):c.1403C>G (p.Ser468Cys) rs1793378040
NM_000245.4(MET):c.1403C>T (p.Ser468Phe) rs1793378040
NM_000245.4(MET):c.1405C>T (p.Arg469Ter) rs2116825789
NM_000245.4(MET):c.1406G>C (p.Arg469Pro) rs752842662
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
NM_000245.4(MET):c.140C>A (p.Thr47Asn) rs2116581323
NM_000245.4(MET):c.140C>T (p.Thr47Ile)
NM_000245.4(MET):c.1411G>A (p.Gly471Arg) rs1207715563
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
NM_000245.4(MET):c.1415C>T (p.Pro472Leu) rs1793379533
NM_000245.4(MET):c.1417T>C (p.Ser473Pro) rs2116826038
NM_000245.4(MET):c.141C>A (p.Thr47=) rs864622222
NM_000245.4(MET):c.1420A>G (p.Thr474Ala) rs1793379665
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1421C>T (p.Thr474Ile) rs1554390902
NM_000245.4(MET):c.1424C>T (p.Pro475Leu) rs1793380035
NM_000245.4(MET):c.1427A>G (p.His476Arg)
NM_000245.4(MET):c.1428T>A (p.His476Gln) rs1432416607
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1430T>G (p.Val477Gly)
NM_000245.4(MET):c.1436T>C (p.Phe479Ser) rs1793380587
NM_000245.4(MET):c.1439T>C (p.Leu480Pro)
NM_000245.4(MET):c.1441C>A (p.Leu481Met) rs1012909374
NM_000245.4(MET):c.1444G>T (p.Asp482Tyr)
NM_000245.4(MET):c.1445A>G (p.Asp482Gly)
NM_000245.4(MET):c.1447T>C (p.Ser483Pro) rs1584922011
NM_000245.4(MET):c.1453C>T (p.Pro485Ser) rs1451954069
NM_000245.4(MET):c.1456G>C (p.Val486Leu) rs746334800
NM_000245.4(MET):c.145G>A (p.Glu49Lys) rs1060503528
NM_000245.4(MET):c.1465G>A (p.Glu489Lys) rs1391853762
NM_000245.4(MET):c.1469T>A (p.Val490Glu)
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_000245.4(MET):c.1477G>A (p.Glu493Lys) rs965319455
NM_000245.4(MET):c.1483A>C (p.Thr495Pro) rs1793383674
NM_000245.4(MET):c.1484C>A (p.Thr495Lys) rs45585831
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1484C>T (p.Thr495Ile)
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1496A>C (p.Asn499Thr) rs1253878709
NM_000245.4(MET):c.1496A>G (p.Asn499Ser) rs1253878709
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
NM_000245.4(MET):c.1505C>T (p.Thr502Ile) rs2116827998
NM_000245.4(MET):c.1507C>G (p.Leu503Val) rs1417433919
NM_000245.4(MET):c.1513A>T (p.Ile505Phe) rs1584922200
NM_000245.4(MET):c.151C>T (p.Pro51Ser) rs758016814
NM_000245.4(MET):c.1522A>G (p.Lys508Glu)
NM_000245.4(MET):c.1523A>G (p.Lys508Arg)
NM_000245.4(MET):c.1523A>T (p.Lys508Met)
NM_000245.4(MET):c.1526A>T (p.Lys509Met)
NM_000245.4(MET):c.1527+1G>A rs1584922241
NM_000245.4(MET):c.1527+4A>G rs1793387054
NM_000245.4(MET):c.1527+5G>A
NM_000245.4(MET):c.1527+6C>A rs1793387165
NM_000245.4(MET):c.1527+6C>G rs1793387165
NM_000245.4(MET):c.1528-7T>G
NM_000245.4(MET):c.1531A>T (p.Thr511Ser) rs1181927481
NM_000245.4(MET):c.1535A>C (p.Lys512Thr) rs1793417875
NM_000245.4(MET):c.1538T>A (p.Ile513Asn) rs1584923080
NM_000245.4(MET):c.1538T>C (p.Ile513Thr) rs1584923080
NM_000245.4(MET):c.1540C>G (p.Pro514Ala) rs756526057
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
NM_000245.4(MET):c.1541C>A (p.Pro514Gln) rs1793418567
NM_000245.4(MET):c.1545G>C (p.Leu515Phe) rs1554391227
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
NM_000245.4(MET):c.1550G>C (p.Gly517Ala)
NM_000245.4(MET):c.1553T>C (p.Leu518Ser) rs2116834331
NM_000245.4(MET):c.1555G>A (p.Gly519Ser)
NM_000245.4(MET):c.1560C>A (p.Cys520Ter) rs1584923132
NM_000245.4(MET):c.1561A>G (p.Arg521Gly) rs1176112251
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1568T>G (p.Phe523Cys) rs1793420216
NM_000245.4(MET):c.1569C>G (p.Phe523Leu)
NM_000245.4(MET):c.1570C>G (p.Gln524Glu) rs2116834835
NM_000245.4(MET):c.1571A>T (p.Gln524Leu) rs1584923162
NM_000245.4(MET):c.1572G>C (p.Gln524His)
NM_000245.4(MET):c.157C>A (p.Gln53Lys)
NM_000245.4(MET):c.1580G>A (p.Ser527Asn) rs1328454755
NM_000245.4(MET):c.1582C>T (p.Gln528Ter)
NM_000245.4(MET):c.158A>G (p.Gln53Arg) rs1002286461
NM_000245.4(MET):c.1594G>A (p.Ala532Thr) rs1793421596
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.1598C>T (p.Pro533Leu) rs2116835610
NM_000245.4(MET):c.159G>C (p.Gln53His) rs1791464303
NM_000245.4(MET):c.1600C>T (p.Pro534Ser) rs200283364
NM_000245.4(MET):c.1601C>T (p.Pro534Leu) rs1793422444
NM_000245.4(MET):c.1603T>C (p.Phe535Leu) rs1793422722
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
NM_000245.4(MET):c.1612T>C (p.Cys538Arg)
NM_000245.4(MET):c.161A>G (p.Asn54Ser)
NM_000245.4(MET):c.1622G>C (p.Cys541Ser) rs2116836106
NM_000245.4(MET):c.1623C>G (p.Cys541Trp)
NM_000245.4(MET):c.1625A>G (p.His542Arg)
NM_000245.4(MET):c.1626C>A (p.His542Gln) rs762898756
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.1627G>C (p.Asp543His)
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
NM_000245.4(MET):c.1636G>C (p.Val546Leu)
NM_000245.4(MET):c.1637T>A (p.Val546Glu) rs993463693
NM_000245.4(MET):c.1639C>T (p.Arg547Ter) rs1047795344
NM_000245.4(MET):c.1640G>C (p.Arg547Pro) rs761951444
NM_000245.4(MET):c.1643C>G (p.Ser548Trp)
NM_000245.4(MET):c.1645G>A (p.Glu549Lys)
NM_000245.4(MET):c.1646A>G (p.Glu549Gly)
NM_000245.4(MET):c.1655T>C (p.Leu552Pro) rs2116837022
NM_000245.4(MET):c.1657A>T (p.Ser553Cys)
NM_000245.4(MET):c.1661G>C (p.Gly554Ala)
NM_000245.4(MET):c.166A>G (p.Ile56Val) rs746806941
NM_000245.4(MET):c.1670C>T (p.Thr557Ile) rs1584923423
NM_000245.4(MET):c.1676A>G (p.Gln559Arg) rs45460604
NM_000245.4(MET):c.1678A>G (p.Ile560Val) rs1351634349
NM_000245.4(MET):c.1682G>C (p.Cys561Ser)
NM_000245.4(MET):c.1687C>T (p.Pro563Ser)
NM_000245.4(MET):c.1694T>C (p.Ile565Thr) rs1584923517
NM_000245.4(MET):c.1696T>G (p.Tyr566Asp)
NM_000245.4(MET):c.16G>A (p.Val6Met)
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.1700A>G (p.Lys567Arg) rs1793429138
NM_000245.4(MET):c.1701+3A>C rs779880717
NM_000245.4(MET):c.1701G>C (p.Lys567Asn) rs1793429265
NM_000245.4(MET):c.1701G>T (p.Lys567Asn)
NM_000245.4(MET):c.1702-1G>C rs747390610
NM_000245.4(MET):c.1702-5T>A
NM_000245.4(MET):c.1703T>C (p.Val568Ala)
NM_000245.4(MET):c.1715G>T (p.Ser572Ile)
NM_000245.4(MET):c.1717G>A (p.Ala573Thr)
NM_000245.4(MET):c.1718C>T (p.Ala573Val) rs1429917144
NM_000245.4(MET):c.172C>A (p.His58Asn) rs1791464742
NM_000245.4(MET):c.1730G>A (p.Gly577Glu)
NM_000245.4(MET):c.1732G>A (p.Gly578Arg) rs1584939128
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
NM_000245.4(MET):c.1736C>T (p.Thr579Ile)
NM_000245.4(MET):c.1740G>T (p.Arg580Ser) rs1182994959
NM_000245.4(MET):c.1741C>G (p.Leu581Val)
NM_000245.4(MET):c.1745C>T (p.Thr582Ile)
NM_000245.4(MET):c.1747A>G (p.Ile583Val)
NM_000245.4(MET):c.174T>G (p.His58Gln) rs1554378291
NM_000245.4(MET):c.1758G>T (p.Trp586Cys) rs1562920414
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
NM_000245.4(MET):c.176A>G (p.Glu59Gly) rs1554378297
NM_000245.4(MET):c.1770T>G (p.Phe590Leu) rs199542598
NM_000245.4(MET):c.1776G>C (p.Arg592Ser)
NM_000245.4(MET):c.1780A>G (p.Asn594Asp) rs1794141895
NM_000245.4(MET):c.1784A>C (p.Lys595Thr) rs1584939204
NM_000245.4(MET):c.1787T>A (p.Phe596Tyr) rs1330648228
NM_000245.4(MET):c.1789G>C (p.Asp597His) rs769073123
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.1795A>G (p.Lys599Glu) rs2116910086
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
NM_000245.4(MET):c.1799A>C (p.Lys600Thr)
NM_000245.4(MET):c.179A>G (p.His60Arg) rs776426414
NM_000245.4(MET):c.17T>G (p.Val6Gly)
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.1805G>A (p.Arg602Lys) rs1484732727
NM_000245.4(MET):c.1807G>A (p.Val603Ile) rs2116910262
NM_000245.4(MET):c.1810C>A (p.Leu604Ile) rs201861645
NM_000245.4(MET):c.1812_1814del (p.Leu605del) rs1060503535
NM_000245.4(MET):c.1813C>T (p.Leu605Phe) rs774945178
NM_000245.4(MET):c.1819A>C (p.Asn607His)
NM_000245.4(MET):c.181C>G (p.His61Asp) rs368942722
NM_000245.4(MET):c.1820A>G (p.Asn607Ser) rs2116910444
NM_000245.4(MET):c.1821T>A (p.Asn607Lys) rs762389147
NM_000245.4(MET):c.1822G>A (p.Glu608Lys) rs2116910480
NM_000245.4(MET):c.1824G>C (p.Glu608Asp)
NM_000245.4(MET):c.1825A>G (p.Ser609Gly)
NM_000245.4(MET):c.1826G>A (p.Ser609Asn) rs1554394973
NM_000245.4(MET):c.1832C>A (p.Thr611Asn)
NM_000245.4(MET):c.1838C>A (p.Thr613Asn) rs1258088041
NM_000245.4(MET):c.1844G>A (p.Ser615Asn) rs1794144964
NM_000245.4(MET):c.1848G>C (p.Glu616Asp) rs2116910921
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys) rs1794145066
NM_000245.4(MET):c.1849A>G (p.Ser617Gly)
NM_000245.4(MET):c.1850G>A (p.Ser617Asn) rs1481812764
NM_000245.4(MET):c.1857G>A (p.Met619Ile)
NM_000245.4(MET):c.1859A>G (p.Asn620Ser) rs2116911133
NM_000245.4(MET):c.1862+1G>A rs1013431413
NM_000245.4(MET):c.1863-2A>G rs1370688649
NM_000245.4(MET):c.1863A>G (p.Thr621=) rs1794219866
NM_000245.4(MET):c.1865T>G (p.Leu622Trp) rs1794220084
NM_000245.4(MET):c.1868A>G (p.Lys623Arg) rs2116919726
NM_000245.4(MET):c.1871G>T (p.Cys624Phe) rs1794220294
NM_000245.4(MET):c.1874C>T (p.Thr625Ile)
NM_000245.4(MET):c.1877T>C (p.Val626Ala)
NM_000245.4(MET):c.1879G>T (p.Gly627Cys) rs2116919915
NM_000245.4(MET):c.1880G>A (p.Gly627Asp)
NM_000245.4(MET):c.1890G>A (p.Met630Ile)
NM_000245.4(MET):c.1890G>T (p.Met630Ile) rs756209410
NM_000245.4(MET):c.1891A>G (p.Asn631Asp)
NM_000245.4(MET):c.1892A>G (p.Asn631Ser)
NM_000245.4(MET):c.1893T>G (p.Asn631Lys) rs1250868411
NM_000245.4(MET):c.1897C>T (p.His633Tyr)
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.1902C>G (p.Phe634Leu) rs772450441
NM_000245.4(MET):c.190C>G (p.Leu64Val) rs1791466070
NM_000245.4(MET):c.1912A>G (p.Ile638Val) rs1060503536
NM_000245.4(MET):c.1912A>T (p.Ile638Leu) rs1060503536
NM_000245.4(MET):c.1913T>C (p.Ile638Thr) rs1554395371
NM_000245.4(MET):c.1924A>C (p.Asn642His)
NM_000245.4(MET):c.1927G>T (p.Gly643Cys)
NM_000245.4(MET):c.1928G>A (p.Gly643Asp)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.1934G>A (p.Gly645Glu)
NM_000245.4(MET):c.1936A>G (p.Thr646Ala)
NM_000245.4(MET):c.1937C>T (p.Thr646Ile) rs751307227
NM_000245.4(MET):c.1939A>G (p.Thr647Ala)
NM_000245.4(MET):c.1944_1945delinsGC (p.Tyr649His)
NM_000245.4(MET):c.1945T>C (p.Tyr649His)
NM_000245.4(MET):c.1952C>T (p.Thr651Ile) rs2116921189
NM_000245.4(MET):c.1958C>T (p.Ser653Phe) rs1554395395
NM_000245.4(MET):c.1958_1960del (p.Ser653del) rs1430652609
NM_000245.4(MET):c.1961A>G (p.Tyr654Cys) rs1554395399
NM_000245.4(MET):c.1965+4A>C rs1362532895
NM_000245.4(MET):c.1966-3C>T
NM_000245.4(MET):c.1968T>A (p.Asp656Glu)
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
NM_000245.4(MET):c.1972G>C (p.Val658Leu) rs587778446
NM_000245.4(MET):c.1973T>C (p.Val658Ala) rs1584941533
NM_000245.4(MET):c.1977A>G (p.Ile659Met) rs1794236479
NM_000245.4(MET):c.1979C>A (p.Thr660Lys)
NM_000245.4(MET):c.1979C>T (p.Thr660Ile) rs1584941563
NM_000245.4(MET):c.1982G>A (p.Ser661Asn) rs755139610
NM_000245.4(MET):c.1990C>T (p.Pro664Ser)
NM_000245.4(MET):c.1991C>T (p.Pro664Leu) rs1367341975
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
NM_000245.4(MET):c.1995A>G (p.Lys665=) rs2116923469
NM_000245.4(MET):c.1998C>A (p.Tyr666Ter) rs566540058
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
NM_000245.4(MET):c.1999_2018del (p.Gly667fs) rs2116923507
NM_000245.4(MET):c.199A>T (p.Thr67Ser) rs202047059
NM_000245.4(MET):c.2005A>G (p.Met669Val) rs1344902873
NM_000245.4(MET):c.2007G>T (p.Met669Ile)
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2016C>T (p.Gly672=) rs768149852
NM_000245.4(MET):c.2018C>G (p.Thr673Ser) rs1401138460
NM_000245.4(MET):c.2018C>T (p.Thr673Ile)
NM_000245.4(MET):c.2027C>A (p.Thr676Asn) rs2116924095
NM_000245.4(MET):c.2027C>T (p.Thr676Ile)
NM_000245.4(MET):c.2043C>G (p.Tyr681Ter) rs1354964885
NM_000245.4(MET):c.2045T>G (p.Leu682Arg)
NM_000245.4(MET):c.2050A>G (p.Ser684Gly) rs1554395462
NM_000245.4(MET):c.2055G>T (p.Gly685=) rs766401668
NM_000245.4(MET):c.2059T>C (p.Ser687Pro) rs1562922167
NM_000245.4(MET):c.2062A>G (p.Arg688Gly) rs1584941772
NM_000245.4(MET):c.2065C>T (p.His689Tyr) rs1794244388
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
NM_000245.4(MET):c.2074A>G (p.Ile692Val)
NM_000245.4(MET):c.2075T>C (p.Ile692Thr) rs1183432579
NM_000245.4(MET):c.2078G>A (p.Gly693Asp)
NM_000245.4(MET):c.2080G>A (p.Gly694Arg) rs2116925025
NM_000245.4(MET):c.2081G>A (p.Gly694Glu) rs1584941830
NM_000245.4(MET):c.2082A>T (p.Gly694=)
NM_000245.4(MET):c.2086del (p.Thr696fs) rs1794245712
NM_000245.4(MET):c.2087C>T (p.Thr696Ile)
NM_000245.4(MET):c.208A>G (p.Ile70Val) rs2116582927
NM_000245.4(MET):c.2092A>G (p.Thr698Ala) rs1794246284
NM_000245.4(MET):c.2099A>G (p.Lys700Arg) rs751907602
NM_000245.4(MET):c.2100A>C (p.Lys700Asn) rs1794246923
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
NM_000245.4(MET):c.2102+4T>C rs200601372
NM_000245.4(MET):c.2102+5T>A rs1794247110
NM_000245.4(MET):c.2102+5T>G rs1794247110
NM_000245.4(MET):c.2102+6G>T rs757561412
NM_000245.4(MET):c.2103-3C>T rs1431679847
NM_000245.4(MET):c.2103T>C (p.Ser701=) rs1554395656
NM_000245.4(MET):c.2104G>C (p.Val702Leu) rs1485891606
NM_000245.4(MET):c.2105T>C (p.Val702Ala)
NM_000245.4(MET):c.2110A>T (p.Asn704Tyr)
NM_000245.4(MET):c.2111A>G (p.Asn704Ser) rs1794272939
NM_000245.4(MET):c.2112C>A (p.Asn704Lys) rs1458912347
NM_000245.4(MET):c.2114G>A (p.Ser705Asn) rs1003586623
NM_000245.4(MET):c.2120T>C (p.Leu707Pro)
NM_000245.4(MET):c.2122G>A (p.Glu708Lys) rs2116930184
NM_000245.4(MET):c.2126G>A (p.Cys709Tyr) rs1554395668
NM_000245.4(MET):c.212A>G (p.Tyr71Cys) rs1260635670
NM_000245.4(MET):c.2134C>G (p.Pro712Ala)
NM_000245.4(MET):c.2137G>A (p.Ala713Thr)
NM_000245.4(MET):c.2144C>A (p.Thr715Asn) rs1554395680
NM_000245.4(MET):c.2146A>G (p.Ile716Val)
NM_000245.4(MET):c.2147T>C (p.Ile716Thr)
NM_000245.4(MET):c.214G>A (p.Val72Ile) rs762253815
NM_000245.4(MET):c.2153C>G (p.Thr718Ser)
NM_000245.4(MET):c.2159T>A (p.Phe720Tyr) rs2116931016
NM_000245.4(MET):c.2160T>A (p.Phe720Leu)
NM_000245.4(MET):c.2161G>T (p.Ala721Ser)
NM_000245.4(MET):c.2168A>C (p.Lys723Thr) rs1554395688
NM_000245.4(MET):c.2176A>G (p.Ile726Val) rs1794275336
NM_000245.4(MET):c.2180A>C (p.Asp727Ala)
NM_000245.4(MET):c.2185G>A (p.Ala729Thr)
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
NM_000245.4(MET):c.2190C>G (p.Asn730Lys) rs2116931541
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.2195A>C (p.Glu732Ala) rs1794276426
NM_000245.4(MET):c.2200A>C (p.Ser734Arg) rs754228039
NM_000245.4(MET):c.2200A>G (p.Ser734Gly) rs754228039
NM_000245.4(MET):c.2201G>A (p.Ser734Asn)
NM_000245.4(MET):c.2203A>G (p.Ile735Val) rs1398648043
NM_000245.4(MET):c.2204dup (p.Phe736fs) rs2116931908
NM_000245.4(MET):c.2209A>G (p.Ser737Gly) rs755571526
NM_000245.4(MET):c.2210G>A (p.Ser737Asn) rs879254333
NM_000245.4(MET):c.2213A>C (p.Tyr738Ser) rs2116932101
NM_000245.4(MET):c.2215C>G (p.Arg739Gly) rs45587940
NM_000245.4(MET):c.2216G>T (p.Arg739Leu)
NM_000245.4(MET):c.2218G>C (p.Glu740Gln)
NM_000245.4(MET):c.2220A>C (p.Glu740Asp) rs1554395720
NM_000245.4(MET):c.2225C>T (p.Pro742Leu)
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
NM_000245.4(MET):c.222T>A (p.Asn74Lys) rs767934760
NM_000245.4(MET):c.2231T>C (p.Val744Ala)
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
NM_000245.4(MET):c.2234A>T (p.Tyr745Phe) rs1794278950
NM_000245.4(MET):c.2238A>T (p.Glu746Asp) rs2116932511
NM_000245.4(MET):c.2242C>A (p.His748Asn) rs2116932590
NM_000245.4(MET):c.2243A>G (p.His748Arg)
NM_000245.4(MET):c.2245C>G (p.Pro749Ala) rs1584942863
NM_000245.4(MET):c.2246C>T (p.Pro749Leu) rs1794279427
NM_000245.4(MET):c.2248A>C (p.Thr750Pro)
NM_000245.4(MET):c.2248A>G (p.Thr750Ala) rs1060503531
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
NM_000245.4(MET):c.2263A>C (p.Ser755Arg) rs981401332
NM_000245.4(MET):c.2265-10G>T rs1355716761
NM_000245.4(MET):c.2265-18del rs761305394
NM_000245.4(MET):c.2265-1G>A
NM_000245.4(MET):c.2265-25T>G
NM_000245.4(MET):c.2265-29A>C
NM_000245.4(MET):c.2265-29A>G
NM_000245.4(MET):c.2265-29A>T rs2116937133
NM_000245.4(MET):c.2265-2A>C
NM_000245.4(MET):c.2265-2A>G rs1397775000
NM_000245.4(MET):c.2265-31A>G rs370237186
NM_000245.4(MET):c.2265-35C>T
NM_000245.4(MET):c.2265-37C>G
NM_000245.4(MET):c.2265-41G>A rs1554395868
NM_000245.4(MET):c.2265-46G>A
NM_000245.4(MET):c.2265-46G>T rs1584943653
NM_000245.4(MET):c.2265-48G>A
NM_000245.4(MET):c.2265-48G>T rs587780540
NM_000245.4(MET):c.2265-49G>C rs1196543273
NM_000245.4(MET):c.2265-55G>C
NM_000245.4(MET):c.2265-57C>T rs1562923455
NM_000245.4(MET):c.2265-59T>C
NM_000245.4(MET):c.2265-63C>G rs2116936690
NM_000245.4(MET):c.2265-64T>C
NM_000245.4(MET):c.2265-68T>G
NM_000245.4(MET):c.2266G>A (p.Gly756Ser)
NM_000245.4(MET):c.2267G>A (p.Gly756Asp) rs1794309303
NM_000245.4(MET):c.2273G>A (p.Ser758Asn) rs2116937610
NM_000245.4(MET):c.2276C>A (p.Thr759Lys) rs1794309783
NM_000245.4(MET):c.2276C>T (p.Thr759Ile)
NM_000245.4(MET):c.227A>T (p.Glu76Val)
NM_000245.4(MET):c.2284G>A (p.Gly762Ser) rs1794310272
NM_000245.4(MET):c.2285G>A (p.Gly762Asp) rs1060503541
NM_000245.4(MET):c.2285G>C (p.Gly762Ala) rs1060503541
NM_000245.4(MET):c.2287G>A (p.Val763Ile) rs2116937873
NM_000245.4(MET):c.2293A>G (p.Lys765Glu) rs1554395889
NM_000245.4(MET):c.2299C>G (p.Leu767Val)
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
NM_000245.4(MET):c.2311A>G (p.Ser771Gly)
NM_000245.4(MET):c.2311_2314del (p.Val772fs) rs2116938280
NM_000245.4(MET):c.2312_2315del (p.Ser771fs) rs2116938318
NM_000245.4(MET):c.2317C>T (p.Pro773Ser) rs2116938395
NM_000245.4(MET):c.2323A>G (p.Met775Val) rs1794311390
NM_000245.4(MET):c.2326G>A (p.Val776Ile)
NM_000245.4(MET):c.2334T>G (p.Asn778Lys) rs2116938738
NM_000245.4(MET):c.2335G>A (p.Val779Met) rs1562923583
NM_000245.4(MET):c.2339A>C (p.His780Pro)
NM_000245.4(MET):c.2347G>C (p.Gly783Arg) rs879254334
NM_000245.4(MET):c.2351G>A (p.Arg784Lys) rs1794313115
NM_000245.4(MET):c.2354A>T (p.Asn785Ile)
NM_000245.4(MET):c.2355C>A (p.Asn785Lys)
NM_000245.4(MET):c.2359A>G (p.Thr787Ala) rs1180556775
NM_000245.4(MET):c.2360C>T (p.Thr787Ile) rs2116939286
NM_000245.4(MET):c.2363T>C (p.Val788Ala) rs786204142
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
NM_000245.4(MET):c.2365-3T>C
NM_000245.4(MET):c.236A>G (p.Gln79Arg) rs1562883214
NM_000245.4(MET):c.2372A>C (p.Gln791Pro)
NM_000245.4(MET):c.2372A>G (p.Gln791Arg) rs1794457657
NM_000245.4(MET):c.2373A>C (p.Gln791His) rs760294359
NM_000245.4(MET):c.2373A>T (p.Gln791His) rs760294359
NM_000245.4(MET):c.2374C>A (p.His792Asn)
NM_000245.4(MET):c.2378G>T (p.Arg793Leu) rs199643166
NM_000245.4(MET):c.2380T>C (p.Ser794Pro) rs2116953849
NM_000245.4(MET):c.2381C>A (p.Ser794Tyr) rs371939364
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2394A>G (p.Ile798Met)
NM_000245.4(MET):c.2395A>G (p.Ile799Val)
NM_000245.4(MET):c.2398T>A (p.Cys800Ser)
NM_000245.4(MET):c.2399G>T (p.Cys800Phe) rs1209881740
NM_000245.4(MET):c.239A>G (p.Lys80Arg) rs1791468662
NM_000245.4(MET):c.2401T>C (p.Cys801Arg) rs1794461185
NM_000245.4(MET):c.2404A>G (p.Thr802Ala)
NM_000245.4(MET):c.2405C>T (p.Thr802Ile)
NM_000245.4(MET):c.2417T>C (p.Leu806Pro) rs1390958903
NM_000245.4(MET):c.2418G>C (p.Leu806=)
NM_000245.4(MET):c.2419C>A (p.Gln807Lys) rs2116954655
NM_000245.4(MET):c.2420A>G (p.Gln807Arg)
NM_000245.4(MET):c.2426T>C (p.Leu809Pro)
NM_000245.4(MET):c.2428A>G (p.Asn810Asp)
NM_000245.4(MET):c.242T>G (p.Val81Gly)
NM_000245.4(MET):c.2430T>A (p.Asn810Lys) rs1160047047
NM_000245.4(MET):c.2431C>A (p.Leu811Met)
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554
NM_000245.4(MET):c.2432T>C (p.Leu811Pro) rs1554396554
NM_000245.4(MET):c.2435A>T (p.Gln812Leu)
NM_000245.4(MET):c.2437C>T (p.Leu813Phe) rs745345346
NM_000245.4(MET):c.2444T>C (p.Leu815Pro) rs1554396571
NM_000245.4(MET):c.2453A>G (p.Lys818Arg)
NM_000245.4(MET):c.2455G>T (p.Ala819Ser)
NM_000245.4(MET):c.2456C>G (p.Ala819Gly)
NM_000245.4(MET):c.245C>T (p.Ala82Val) rs1584876240
NM_000245.4(MET):c.2461T>A (p.Phe821Ile)
NM_000245.4(MET):c.2461T>C (p.Phe821Leu) rs1794465668
NM_000245.4(MET):c.2462T>G (p.Phe821Cys)
NM_000245.4(MET):c.2464A>G (p.Met822Val) rs368787826
NM_000245.4(MET):c.2464A>T (p.Met822Leu) rs368787826
NM_000245.4(MET):c.2465T>C (p.Met822Thr) rs1562925631
NM_000245.4(MET):c.2472T>G (p.Asp824Glu) rs1463527073
NM_000245.4(MET):c.2474G>A (p.Gly825Glu) rs1307584609
NM_000245.4(MET):c.2475G>T (p.Gly825=) rs891908277
NM_000245.4(MET):c.2479C>T (p.Leu827Phe) rs2116955879
NM_000245.4(MET):c.2487A>T (p.Lys829Asn)
NM_000245.4(MET):c.2488T>C (p.Tyr830His) rs1794468017
NM_000245.4(MET):c.248A>C (p.Glu83Ala) rs2116583864
NM_000245.4(MET):c.2495A>T (p.Asp832Val)
NM_000245.4(MET):c.2497C>T (p.Leu833Phe)
NM_000245.4(MET):c.24dup (p.Pro9fs)
NM_000245.4(MET):c.2500A>G (p.Ile834Val) rs2116956205
NM_000245.4(MET):c.2501T>A (p.Ile834Asn) rs1215872095
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
NM_000245.4(MET):c.2506G>A (p.Val836Ile) rs372699296
NM_000245.4(MET):c.2506G>T (p.Val836Leu)
NM_000245.4(MET):c.2509C>T (p.His837Tyr) rs1584947043
NM_000245.4(MET):c.2510A>C (p.His837Pro) rs1041349799
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2515C>T (p.Pro839Ser)
NM_000245.4(MET):c.2527C>A (p.Pro843Thr) rs905891313
NM_000245.4(MET):c.2527C>T (p.Pro843Ser)
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.2533G>C (p.Glu845Gln) rs1794470895
NM_000245.4(MET):c.2534A>G (p.Glu845Gly) rs1794471154
NM_000245.4(MET):c.2538G>C (p.Lys846Asn) rs1562925732
NM_000245.4(MET):c.2539C>T (p.Pro847Ser) rs1562925733
NM_000245.4(MET):c.253A>G (p.Lys85Glu) rs1791469321
NM_000245.4(MET):c.2540C>G (p.Pro847Arg) rs2116956803
NM_000245.4(MET):c.2545A>G (p.Met849Val) rs1584947097
NM_000245.4(MET):c.2547G>T (p.Met849Ile) rs747989932
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2557G>A (p.Gly853Ser) rs45575240
NM_000245.4(MET):c.255G>T (p.Lys85Asn) rs1327946446
NM_000245.4(MET):c.2561A>G (p.Asn854Ser) rs2116957192
NM_000245.4(MET):c.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.2569G>A (p.Val857Ile) rs1794474122
NM_000245.4(MET):c.2573T>G (p.Leu858Arg) rs1794474295
NM_000245.4(MET):c.2575G>A (p.Glu859Lys)
NM_000245.4(MET):c.2582A>G (p.Lys861Arg) rs895820328
NM_000245.4(MET):c.2583+3A>G rs781401324
NM_000245.4(MET):c.2583+5G>A rs1432247099
NM_000245.4(MET):c.2583G>A (p.Lys861=) rs1584947168
NM_000245.4(MET):c.2584-3C>T rs1337305891
NM_000245.4(MET):c.2584-5T>G rs2116982294
NM_000245.4(MET):c.2585_2605del (p.Gly862_Glu868del)
NM_000245.4(MET):c.2587A>G (p.Asn863Asp)
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.2590G>A (p.Asp864Asn)
NM_000245.4(MET):c.2590G>T (p.Asp864Tyr) rs1584953171
NM_000245.4(MET):c.2590_2592del (p.Asp864del)
NM_000245.4(MET):c.2596G>C (p.Asp866His)
NM_000245.4(MET):c.25C>A (p.Pro9Thr) rs2116578170
NM_000245.4(MET):c.25C>T (p.Pro9Ser) rs2116578170
NM_000245.4(MET):c.2606_2607delinsAG (p.Ala869Glu)
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
NM_000245.4(MET):c.2614G>A (p.Gly872Ser) rs1794767589
NM_000245.4(MET):c.2615G>T (p.Gly872Val)
NM_000245.4(MET):c.2619A>G (p.Glu873=)
NM_000245.4(MET):c.2620G>A (p.Val874Met) rs1299130122
NM_000245.4(MET):c.2626A>C (p.Lys876Gln) rs368891381
NM_000245.4(MET):c.2629G>T (p.Val877Phe)
NM_000245.4(MET):c.262C>A (p.Pro88Thr)
NM_000245.4(MET):c.262C>G (p.Pro88Ala) rs1169278904
NM_000245.4(MET):c.2638A>G (p.Lys880Glu) rs2116983288
NM_000245.4(MET):c.2640G>C (p.Lys880Asn)
NM_000245.4(MET):c.2647G>A (p.Glu883Lys) rs769253547
NM_000245.4(MET):c.2653A>G (p.Ile885Val) rs1584953249
NM_000245.4(MET):c.2656C>G (p.His886Asp) rs1209392687
NM_000245.4(MET):c.2657A>G (p.His886Arg) rs2116983578
NM_000245.4(MET):c.265G>A (p.Val89Met) rs1060503544
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.2663A>G (p.His888Arg) rs1584953276
NM_000245.4(MET):c.2670A>C (p.Glu890Asp)
NM_000245.4(MET):c.2672C>G (p.Ala891Gly) rs1562929174
NM_000245.4(MET):c.2672C>T (p.Ala891Val) rs1562929174
NM_000245.4(MET):c.2697C>G (p.Asp899Glu)
NM_000245.4(MET):c.2698C>A (p.Leu900Met) rs1398243931
NM_000245.4(MET):c.269T>C (p.Leu90Pro) rs1291977283
NM_000245.4(MET):c.26C>T (p.Pro9Leu) rs1355886011
NM_000245.4(MET):c.2701C>G (p.Leu901Val) rs1384134548
NM_000245.4(MET):c.2711A>G (p.Asn904Ser) rs765441927
NM_000245.4(MET):c.272A>G (p.Glu91Gly) rs1791471735
NM_000245.4(MET):c.2730+1G>A
NM_000245.4(MET):c.2736G>C (p.Lys912Asn) rs1794830011
NM_000245.4(MET):c.2737C>A (p.Gln913Lys) rs1794830159
NM_000245.4(MET):c.2737C>G (p.Gln913Glu)
NM_000245.4(MET):c.2739A>C (p.Gln913His)
NM_000245.4(MET):c.2740G>A (p.Ala914Thr)
NM_000245.4(MET):c.2745T>G (p.Ile915Met) rs1554398244
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr) rs1288860579
NM_000245.4(MET):c.2747C>T (p.Ser916Phe) rs1288860579
NM_000245.4(MET):c.274C>G (p.His92Asp) rs1375872823
NM_000245.4(MET):c.275A>G (p.His92Arg)
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
NM_000245.4(MET):c.2766A>G (p.Lys922=)
NM_000245.4(MET):c.2767G>A (p.Val923Ile) rs1794832354
NM_000245.4(MET):c.2767G>C (p.Val923Leu) rs1794832354
NM_000245.4(MET):c.2770A>G (p.Ile924Val) rs1247472138
NM_000245.4(MET):c.2773G>A (p.Val925Ile) rs1794833108
NM_000245.4(MET):c.2774T>C (p.Val925Ala) rs922442405
NM_000245.4(MET):c.2777A>G (p.Gln926Arg) rs1464316950
NM_000245.4(MET):c.277C>T (p.Pro93Ser) rs527638748
NM_000245.4(MET):c.2786A>G (p.Gln929Arg) rs1794833626
NM_000245.4(MET):c.278C>G (p.Pro93Arg) rs1306740707
NM_000245.4(MET):c.278C>T (p.Pro93Leu) rs1306740707
NM_000245.4(MET):c.2791T>A (p.Phe931Ile) rs1562930067
NM_000245.4(MET):c.2794A>C (p.Thr932Pro)
NM_000245.4(MET):c.2803A>G (p.Ile935Val) rs1420349380
NM_000245.4(MET):c.2805T>G (p.Ile935Met)
NM_000245.4(MET):c.2806G>A (p.Ala936Thr) rs1794834628
NM_000245.4(MET):c.2806G>C (p.Ala936Pro)
NM_000245.4(MET):c.2806G>T (p.Ala936Ser) rs1794834628
NM_000245.4(MET):c.2807C>T (p.Ala936Val)
NM_000245.4(MET):c.2809G>A (p.Gly937Ser)
NM_000245.4(MET):c.280G>A (p.Asp94Asn) rs899151863
NM_000245.4(MET):c.2813T>C (p.Val938Ala) rs1554398288
NM_000245.4(MET):c.2822T>G (p.Ile941Arg)
NM_000245.4(MET):c.2823A>G (p.Ile941Met)
NM_000245.4(MET):c.2828C>T (p.Thr943Ile) rs2116992551
NM_000245.4(MET):c.2830G>A (p.Ala944Thr) rs2116992583
NM_000245.4(MET):c.2842C>A (p.Leu948Ile)
NM_000245.4(MET):c.2843T>C (p.Leu948Pro) rs2116992766
NM_000245.4(MET):c.2845C>T (p.Leu949Phe)
NM_000245.4(MET):c.2849G>A (p.Gly950Glu) rs2116992857
NM_000245.4(MET):c.2849G>T (p.Gly950Val) rs2116992857
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
NM_000245.4(MET):c.2864T>A (p.Leu955Gln) rs879254335
NM_000245.4(MET):c.2866A>G (p.Lys956Glu)
NM_000245.4(MET):c.2870A>T (p.Lys957Met) rs1794836962
NM_000245.4(MET):c.2873G>A (p.Arg958Lys)
NM_000245.4(MET):c.2878C>A (p.Gln960Lys) rs2116993223
NM_000245.4(MET):c.287T>G (p.Phe96Cys) rs371941340
NM_000245.4(MET):c.2880A>T (p.Gln960His) rs2116993238
NM_000245.4(MET):c.2887+3G>A
NM_000245.4(MET):c.2887+5A>T rs752292538
NM_000245.4(MET):c.2887+6T>C rs1584955059
NM_000245.4(MET):c.2888-6T>G rs1562930263
NM_000245.4(MET):c.2888A>G (p.Asp963Gly) rs1554398360
NM_000245.4(MET):c.2892G>A (p.Leu964=) rs1584955273
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2897G>A (p.Ser966Asn) rs1460031754
NM_000245.4(MET):c.2905G>T (p.Val969Phe) rs757925979
NM_000245.4(MET):c.2906T>C (p.Val969Ala)
NM_000245.4(MET):c.2909G>C (p.Arg970Pro) rs45607832
NM_000245.4(MET):c.2909G>T (p.Arg970Leu)
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
NM_000245.4(MET):c.2911_2912insGAGT (p.Tyr971Ter)
NM_000245.4(MET):c.2912A>G (p.Tyr971Cys) rs780819058
NM_000245.4(MET):c.2912A>T (p.Tyr971Phe)
NM_000245.4(MET):c.2917G>A (p.Ala973Thr) rs1584955330
NM_000245.4(MET):c.2918C>G (p.Ala973Gly)
NM_000245.4(MET):c.2920A>G (p.Arg974Gly)
NM_000245.4(MET):c.2921G>A (p.Arg974Lys)
NM_000245.4(MET):c.2921_2946del (p.Arg974fs)
NM_000245.4(MET):c.2926C>T (p.His976Tyr)
NM_000245.4(MET):c.2927A>G (p.His976Arg)
NM_000245.4(MET):c.2929A>G (p.Thr977Ala) rs1554398378
NM_000245.4(MET):c.292T>C (p.Cys98Arg) rs1791473262
NM_000245.4(MET):c.2930C>T (p.Thr977Ile) rs1794847178
NM_000245.4(MET):c.2933C>T (p.Pro978Leu) rs1060503540
NM_000245.4(MET):c.2941G>A (p.Asp981Asn) rs1794847447
NM_000245.4(MET):c.2941G>C (p.Asp981His) rs1794847447
NM_000245.4(MET):c.2941G>T (p.Asp981Tyr) rs1794847447
NM_000245.4(MET):c.2946G>C (p.Arg982Ser) rs1554398390
NM_000245.4(MET):c.2950G>A (p.Val984Ile) rs1258377870
NM_000245.4(MET):c.2951T>C (p.Val984Ala) rs1794847963
NM_000245.4(MET):c.2951dup (p.Ser985fs)
NM_000245.4(MET):c.2954G>C (p.Ser985Thr) rs779906308
NM_000245.4(MET):c.2956G>T (p.Ala986Ser) rs1794848174
NM_000245.4(MET):c.2959C>T (p.Arg987Ter) rs1554398397
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.2965G>A (p.Val989Ile) rs1442896663
NM_000245.4(MET):c.2974A>T (p.Thr992Ser)
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.2987T>C (p.Val996Ala) rs1554398418
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.2992A>G (p.Asn998Asp)
NM_000245.4(MET):c.2996A>T (p.Glu999Val) rs912927724
NM_000245.4(MET):c.299A>G (p.Asp100Gly) rs1791473592
NM_000245.4(MET):c.29G>A (p.Gly10Asp) rs919828654
NM_000245.4(MET):c.3001del (p.Ser1000_Val1001insTer)
NM_000245.4(MET):c.3005A>G (p.Asp1002Gly) rs1794850672
NM_000245.4(MET):c.3008A>G (p.Tyr1003Cys)
NM_000245.4(MET):c.3011G>A (p.Arg1004Gln)
NM_000245.4(MET):c.3013G>A (p.Ala1005Thr) rs2116997594
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser) rs1794851181
NM_000245.4(MET):c.3023C>T (p.Pro1008Leu)
NM_000245.4(MET):c.3026A>C (p.Glu1009Ala)
NM_000245.4(MET):c.3028+3A>G
NM_000245.4(MET):c.3028+5A>G
NM_000245.4(MET):c.3029-1G>A rs2117029383
NM_000245.4(MET):c.3029-2A>G rs2117029370
NM_000245.4(MET):c.3029A>C (p.Asp1010Ala) rs2117029391
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu) rs1584957663
NM_000245.4(MET):c.3031del (p.Gln1011fs)
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser) rs1794945602
NM_000245.4(MET):c.3038C>G (p.Pro1013Arg) rs1203610182
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser) rs2117029538
NM_000245.4(MET):c.3048_3049delinsAA (p.Gln1017Lys) rs2117029651
NM_000245.4(MET):c.3049C>G (p.Gln1017Glu) rs1794946568
NM_000245.4(MET):c.3050A>G (p.Gln1017Arg)
NM_000245.4(MET):c.3053A>G (p.Asn1018Ser)
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser) rs950642030
NM_000245.4(MET):c.3061T>C (p.Cys1021Arg) rs2117029846
NM_000245.4(MET):c.3064C>G (p.Arg1022Gly) rs1193441628
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3065_3067del (p.Arg1022del) rs2117029920
NM_000245.4(MET):c.3070G>A (p.Val1024Met) rs1584957724
NM_000245.4(MET):c.3071T>C (p.Val1024Ala) rs2117030004
NM_000245.4(MET):c.3071T>G (p.Val1024Gly)
NM_000245.4(MET):c.3074A>G (p.Gln1025Arg) rs1794947477
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala) rs373419003
NM_000245.4(MET):c.3083T>C (p.Leu1028Pro)
NM_000245.4(MET):c.3086C>T (p.Thr1029Ile)
NM_000245.4(MET):c.3092T>C (p.Met1031Thr) rs1255185058
NM_000245.4(MET):c.3094T>A (p.Ser1032Thr) rs2117030307
NM_000245.4(MET):c.3097C>G (p.Pro1033Ala) rs1294910019
NM_000245.4(MET):c.3098C>G (p.Pro1033Arg)
NM_000245.4(MET):c.3100A>G (p.Ile1034Val) rs993773653
NM_000245.4(MET):c.3106A>T (p.Thr1036Ser)
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3112G>T (p.Gly1038Trp)
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn) rs777748634
NM_000245.4(MET):c.3115G>C (p.Asp1039His)
NM_000245.4(MET):c.3115del (p.Asp1039fs)
NM_000245.4(MET):c.3116A>G (p.Asp1039Gly) rs1794949125
NM_000245.4(MET):c.3117C>A (p.Asp1039Glu) rs575907920
NM_000245.4(MET):c.3117C>G (p.Asp1039Glu) rs575907920
NM_000245.4(MET):c.3126A>G (p.Ile1042Met) rs1237033724
NM_000245.4(MET):c.3127T>C (p.Ser1043Pro) rs2117030729
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr) rs1267419620
NM_000245.4(MET):c.312A>C (p.Lys104Asn) rs1554378412
NM_000245.4(MET):c.312A>T (p.Lys104Asn) rs1554378412
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys) rs1357266763
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
NM_000245.4(MET):c.3131_3143del (p.Ser1044fs)
NM_000245.4(MET):c.3132T>A (p.Ser1044Arg) rs746291237
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro) rs1794950215
NM_000245.4(MET):c.3143A>G (p.Gln1048Arg)
NM_000245.4(MET):c.3148A>G (p.Thr1050Ala) rs1794950502
NM_000245.4(MET):c.3149C>A (p.Thr1050Asn) rs1179812872
NM_000245.4(MET):c.3149C>T (p.Thr1050Ile) rs1179812872
NM_000245.4(MET):c.3151G>A (p.Val1051Ile) rs775997318
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
NM_000245.4(MET):c.3151G>T (p.Val1051Phe)
NM_000245.4(MET):c.3156_3166del (p.His1052fs)
NM_000245.4(MET):c.3157A>G (p.Ile1053Val) rs1278254320
NM_000245.4(MET):c.3158T>C (p.Ile1053Thr)
NM_000245.4(MET):c.3160G>A (p.Asp1054Asn) rs2117031109
NM_000245.4(MET):c.3160G>T (p.Asp1054Tyr)
NM_000245.4(MET):c.3161A>T (p.Asp1054Val) rs2117031126
NM_000245.4(MET):c.3162C>A (p.Asp1054Glu)
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile) rs1060503534
NM_000245.4(MET):c.3163C>G (p.Leu1055Val) rs1060503534
NM_000245.4(MET):c.3166A>G (p.Ser1056Gly)
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
NM_000245.4(MET):c.3175A>C (p.Asn1059His) rs1794951633
NM_000245.4(MET):c.3181G>A (p.Glu1061Lys) rs2117031426
NM_000245.4(MET):c.3181G>C (p.Glu1061Gln) rs2117031426
NM_000245.4(MET):c.3183G>C (p.Glu1061Asp) rs1554398889
NM_000245.4(MET):c.3194C>T (p.Ala1065Val) rs2117031577
NM_000245.4(MET):c.3197T>A (p.Val1066Glu) rs2117031615
NM_000245.4(MET):c.3199C>G (p.Gln1067Glu) rs45628136
NM_000245.4(MET):c.31A>G (p.Ile11Val) rs1584875601
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu) rs1554398900
NM_000245.4(MET):c.3202C>T (p.His1068Tyr) rs1330566980
NM_000245.4(MET):c.3203A>C (p.His1068Pro) rs767587065
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
NM_000245.4(MET):c.3204T>A (p.His1068Gln) rs1397743069
NM_000245.4(MET):c.3204T>G (p.His1068Gln) rs1397743069
NM_000245.4(MET):c.3206T>C (p.Val1069Ala) rs1794953455
NM_000245.4(MET):c.3208G>T (p.Val1070Leu) rs760285693
NM_000245.4(MET):c.3214G>A (p.Gly1072Arg)
NM_000245.4(MET):c.3215G>A (p.Gly1072Glu) rs1584957937
NM_000245.4(MET):c.3215G>C (p.Gly1072Ala)
NM_000245.4(MET):c.3217C>A (p.Pro1073Thr)
NM_000245.4(MET):c.321A>T (p.Leu107Phe) rs1040920548
NM_000245.4(MET):c.3230T>A (p.Ile1077Asn)
NM_000245.4(MET):c.3231T>G (p.Ile1077Met) rs1251215478
NM_000245.4(MET):c.3233T>C (p.Val1078Ala)
NM_000245.4(MET):c.3236A>C (p.His1079Pro) rs758292223
NM_000245.4(MET):c.3244G>A (p.Glu1082Lys)
NM_000245.4(MET):c.3245A>T (p.Glu1082Val)
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp) rs1794955289
NM_000245.4(MET):c.3247G>A (p.Val1083Ile) rs1794955378
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu) rs1562931818
NM_000245.4(MET):c.3254G>C (p.Gly1085Ala)
NM_000245.4(MET):c.3257G>A (p.Arg1086Lys) rs2117032447
NM_000245.4(MET):c.3259+4A>G
NM_000245.4(MET):c.3259+5G>A rs1794955894
NM_000245.4(MET):c.3263A>G (p.His1088Arg) rs786204102
NM_000245.4(MET):c.3268G>T (p.Gly1090Cys)
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg) rs751556706
NM_000245.4(MET):c.3274G>T (p.Val1092Leu)
NM_000245.4(MET):c.3282T>G (p.His1094Gln) rs1185332869
NM_000245.4(MET):c.3284G>A (p.Gly1095Glu) rs1795029105
NM_000245.4(MET):c.3284G>C (p.Gly1095Ala) rs1795029105
NM_000245.4(MET):c.3287C>G (p.Thr1096Ser) rs45592846
NM_000245.4(MET):c.3287C>T (p.Thr1096Ile) rs45592846
NM_000245.4(MET):c.328G>A (p.Gly110Ser)
NM_000245.4(MET):c.3291G>T (p.Leu1097Phe) rs2117039952
NM_000245.4(MET):c.3295G>A (p.Asp1099Asn)
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser) rs1795029901
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn) rs749678495
NM_000245.4(MET):c.3302A>G (p.Asp1101Gly)
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
NM_000245.4(MET):c.3305G>A (p.Gly1102Asp) rs1060503533
NM_000245.4(MET):c.3312A>C (p.Lys1104Asn)
NM_000245.4(MET):c.3313A>G (p.Ile1105Val) rs2117040207
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
NM_000245.4(MET):c.3316C>T (p.His1106Tyr) rs1795030662
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
NM_000245.4(MET):c.3326T>A (p.Val1109Glu)
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys) rs1584960002
NM_000245.4(MET):c.3338A>T (p.Asn1113Ile) rs2117040446
NM_000245.4(MET):c.3339C>G (p.Asn1113Lys) rs1214629015
NM_000245.4(MET):c.3340+2dup rs1554399352
NM_000245.4(MET):c.3340+5G>A
NM_000245.4(MET):c.3340+5del
NM_000245.4(MET):c.3340+6T>A
NM_000245.4(MET):c.3340+6T>C rs1240062915
NM_000245.4(MET):c.3341-11G>A
NM_000245.4(MET):c.3341-8T>C rs1323109627
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu) rs2117044727
NM_000245.4(MET):c.3344T>C (p.Ile1115Thr) rs1795065701
NM_000245.4(MET):c.3346A>G (p.Thr1116Ala) rs2117044784
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.3353T>C (p.Ile1118Thr) rs1795065976
NM_000245.4(MET):c.3356_3358del (p.Gly1119del) rs1584961122
NM_000245.4(MET):c.3362T>C (p.Val1121Ala)
NM_000245.4(MET):c.3365C>A (p.Ser1122Tyr)
NM_000245.4(MET):c.3367C>T (p.Gln1123Ter)
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg) rs2117045243
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
NM_000245.4(MET):c.3379G>A (p.Glu1127Lys) rs1158021755
NM_000245.4(MET):c.3381G>A (p.Glu1127=)
NM_000245.4(MET):c.3382G>A (p.Gly1128Arg)
NM_000245.4(MET):c.3397G>A (p.Asp1133Asn) rs745437003
NM_000245.4(MET):c.3397G>T (p.Asp1133Tyr) rs745437003
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn) rs1795069423
NM_000245.4(MET):c.3405T>G (p.Ser1135Arg) rs1554399556
NM_000245.4(MET):c.3409C>A (p.Pro1137Thr)
NM_000245.4(MET):c.340G>A (p.Asp114Asn) rs2116586335
NM_000245.4(MET):c.340G>T (p.Asp114Tyr) rs2116586335
NM_000245.4(MET):c.3410C>T (p.Pro1137Leu) rs2117046293
NM_000245.4(MET):c.3413A>T (p.Asn1138Ile) rs2117046370
NM_000245.4(MET):c.3415G>A (p.Val1139Ile) rs1795069790
NM_000245.4(MET):c.3415G>T (p.Val1139Phe)
NM_000245.4(MET):c.3418C>T (p.Leu1140Phe) rs1333930330
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln) rs1795070394
NM_000245.4(MET):c.3437G>A (p.Cys1146Tyr) rs1795070664
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
NM_000245.4(MET):c.343A>G (p.Asn115Asp)
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter) rs879254336
NM_000245.4(MET):c.3443del (p.Arg1148fs)
NM_000245.4(MET):c.3446G>A (p.Ser1149Asn) rs1795071435
NM_000245.4(MET):c.3446G>C (p.Ser1149Thr) rs1795071435
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu) rs1795071897
NM_000245.4(MET):c.345C>G (p.Asn115Lys)
NM_000245.4(MET):c.3467T>C (p.Val1156Ala) rs2117047452
NM_000245.4(MET):c.346A>G (p.Ile116Val) rs1554378434
NM_000245.4(MET):c.3475T>C (p.Tyr1159His) rs2117047603
NM_000245.4(MET):c.3478A>G (p.Met1160Val) rs1554399597
NM_000245.4(MET):c.347T>A (p.Ile116Asn)
NM_000245.4(MET):c.3488G>A (p.Gly1163Glu) rs879254338
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter) rs1795073205
NM_000245.4(MET):c.3500A>G (p.Asn1167Ser)
NM_000245.4(MET):c.3503T>C (p.Phe1168Ser)
NM_000245.4(MET):c.3505A>C (p.Ile1169Leu)
NM_000245.4(MET):c.3505A>G (p.Ile1169Val) rs752109953
NM_000245.4(MET):c.3508C>G (p.Arg1170Gly) rs200754673
NM_000245.4(MET):c.3509G>C (p.Arg1170Pro) rs369838973
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu) rs369838973
NM_000245.4(MET):c.350A>G (p.Asn117Ser)
NM_000245.4(MET):c.3513T>G (p.Asn1171Lys)
NM_000245.4(MET):c.3518C>G (p.Thr1173Ser) rs121913675
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3523-3C>T rs763246917
NM_000245.4(MET):c.3523A>C (p.Asn1175His)
NM_000245.4(MET):c.3524A>C (p.Asn1175Thr) rs1554400071
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
NM_000245.4(MET):c.3529A>G (p.Thr1177Ala)
NM_000245.4(MET):c.352A>G (p.Met118Val) rs1060503538
NM_000245.4(MET):c.3532G>A (p.Val1178Ile) rs1584964221
NM_000245.4(MET):c.3538G>T (p.Asp1180Tyr)
NM_000245.4(MET):c.353T>C (p.Met118Thr)
NM_000245.4(MET):c.353T>G (p.Met118Arg) rs2116586678
NM_000245.4(MET):c.3544A>G (p.Ile1182Val) rs1795171767
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr) rs1795171887
NM_000245.4(MET):c.3547G>A (p.Gly1183Ser)
NM_000245.4(MET):c.3548G>A (p.Gly1183Asp)
NM_000245.4(MET):c.354G>A (p.Met118Ile) rs1562883374
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
NM_000245.4(MET):c.3561A>T (p.Gln1187His)
NM_000245.4(MET):c.3562G>A (p.Val1188Ile) rs121913669
NM_000245.4(MET):c.3563_3564del (p.Val1188fs) rs1562935204
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr) rs1348453406
NM_000245.4(MET):c.3568A>G (p.Lys1190Glu)
NM_000245.4(MET):c.3573C>T (p.Gly1191=)
NM_000245.4(MET):c.3576G>C (p.Met1192Ile)
NM_000245.4(MET):c.3578A>G (p.Lys1193Arg)
NM_000245.4(MET):c.3583C>T (p.Leu1195Phe) rs121913673
NM_000245.4(MET):c.3584T>A (p.Leu1195His)
NM_000245.4(MET):c.3589A>G (p.Ser1197Gly)
NM_000245.4(MET):c.3589A>T (p.Ser1197Cys) rs2117060265
NM_000245.4(MET):c.358C>G (p.Leu120Val)
NM_000245.4(MET):c.3592A>G (p.Lys1198Glu) rs2117060312
NM_000245.4(MET):c.3596A>G (p.Lys1199Arg) rs2117060357
NM_000245.4(MET):c.3598T>C (p.Phe1200Leu) rs1554400099
NM_000245.4(MET):c.3601G>A (p.Val1201Ile) rs778646229
NM_000245.4(MET):c.3612C>G (p.Asp1204Glu)
NM_000245.4(MET):c.3616G>A (p.Ala1206Thr) rs2117060579
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
NM_000245.4(MET):c.361G>A (p.Val121Ile)
NM_000245.4(MET):c.3633-2A>G rs879254337
NM_000245.4(MET):c.3634C>A (p.Leu1212Met)
NM_000245.4(MET):c.3636G>A (p.Leu1212=)
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys) rs1261418076
NM_000245.4(MET):c.3648C>A (p.Phe1216Leu) rs1584965464
NM_000245.4(MET):c.364G>A (p.Val122Ile) rs2116586974
NM_000245.4(MET):c.3653T>C (p.Val1218Ala) rs1191381216
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
NM_000245.4(MET):c.3657G>C (p.Lys1219Asn) rs1795207276
NM_000245.4(MET):c.365T>C (p.Val122Ala)
NM_000245.4(MET):c.3661_3662delinsAT (p.Ala1221Ile)
NM_000245.4(MET):c.3679A>G (p.Arg1227Gly) rs2117065927
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
NM_000245.4(MET):c.3687G>A (p.Met1229Ile)
NM_000245.4(MET):c.3688T>G (p.Tyr1230Asp) rs121913247
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.368A>T (p.Asp123Val)
NM_000245.4(MET):c.3691G>A (p.Asp1231Asn) rs1168862161
NM_000245.4(MET):c.36C>A (p.Leu12=) rs188625702
NM_000245.4(MET):c.3704A>G (p.Tyr1235Cys)
NM_000245.4(MET):c.3709G>A (p.Val1237Ile) rs1031263507
NM_000245.4(MET):c.3709G>T (p.Val1237Leu)
NM_000245.4(MET):c.3713A>T (p.His1238Leu) rs1562935856
NM_000245.4(MET):c.3714C>G (p.His1238Gln)
NM_000245.4(MET):c.3717C>A (p.Asn1239Lys) rs2117066535
NM_000245.4(MET):c.3719A>G (p.Lys1240Arg)
NM_000245.4(MET):c.371C>A (p.Thr124Asn)
NM_000245.4(MET):c.371C>T (p.Thr124Ile) rs1791477416
NM_000245.4(MET):c.3725G>T (p.Gly1242Val) rs776086430
NM_000245.4(MET):c.3731A>C (p.Lys1244Thr) rs121913677
NM_000245.4(MET):c.3739G>A (p.Val1247Met) rs1562935903
NM_000245.4(MET):c.373T>A (p.Tyr125Asn)
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
NM_000245.4(MET):c.374A>G (p.Tyr125Cys)
NM_000245.4(MET):c.3757G>A (p.Glu1253Lys)
NM_000245.4(MET):c.3760A>C (p.Ser1254Arg)
NM_000245.4(MET):c.3767A>G (p.Gln1256Arg)
NM_000245.4(MET):c.376T>C (p.Tyr126His)
NM_000245.4(MET):c.3772C>T (p.Gln1258Ter) rs1795213262
NM_000245.4(MET):c.3778T>C (p.Phe1260Leu)
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
NM_000245.4(MET):c.3784A>G (p.Thr1262Ala)
NM_000245.4(MET):c.3790T>A (p.Ser1264Thr)
NM_000245.4(MET):c.3790T>C (p.Ser1264Pro) rs1795214265
NM_000245.4(MET):c.3794A>T (p.Asp1265Val) rs2117067679
NM_000245.4(MET):c.3797T>A (p.Val1266Glu) rs2117067730
NM_000245.4(MET):c.3798+1G>A rs1795214615
NM_000245.4(MET):c.3798+6G>A rs2117067806
NM_000245.4(MET):c.3799-3T>A rs1584977801
NM_000245.4(MET):c.379G>A (p.Asp127Asn)
NM_000245.4(MET):c.379G>C (p.Asp127His) rs1584876615
NM_000245.4(MET):c.37G>C (p.Val13Leu)
NM_000245.4(MET):c.37G>T (p.Val13Leu)
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser) rs727504014
NM_000245.4(MET):c.3812T>A (p.Val1271Glu)
NM_000245.4(MET):c.3817del (p.Leu1273fs)
NM_000245.4(MET):c.381T>A (p.Asp127Glu) rs2116587402
NM_000245.4(MET):c.3821G>A (p.Trp1274Ter)
NM_000245.4(MET):c.382G>A (p.Asp128Asn)
NM_000245.4(MET):c.3838G>A (p.Gly1280Arg)
NM_000245.4(MET):c.383A>G (p.Asp128Gly) rs1554378477
NM_000245.4(MET):c.3841G>A (p.Ala1281Thr)
NM_000245.4(MET):c.3842C>T (p.Ala1281Val) rs750337451
NM_000245.4(MET):c.3844C>T (p.Pro1282Ser)
NM_000245.4(MET):c.3848dup (p.Tyr1284fs)
NM_000245.4(MET):c.3853C>A (p.Pro1285Thr)
NM_000245.4(MET):c.3858C>G (p.Asp1286Glu)
NM_000245.4(MET):c.3860T>G (p.Val1287Gly)
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser) rs1584977945
NM_000245.4(MET):c.386A>C (p.Gln129Pro) rs1791478036
NM_000245.4(MET):c.3871G>C (p.Asp1291His)
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
NM_000245.4(MET):c.3874A>G (p.Ile1292Val)
NM_000245.4(MET):c.3876A>G (p.Ile1292Met) rs786204044
NM_000245.4(MET):c.3879T>A (p.Thr1293=) rs1554402170
NM_000245.4(MET):c.387A>T (p.Gln129His) rs1791478119
NM_000245.4(MET):c.388C>T (p.Leu130Phe) rs1584876640
NM_000245.4(MET):c.3895G>C (p.Gly1299Arg)
NM_000245.4(MET):c.3897G>T (p.Gly1299=) rs2117108701
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3905T>C (p.Leu1302Pro) rs2117108825
NM_000245.4(MET):c.3929A>G (p.Asp1310Gly)
NM_000245.4(MET):c.3929A>T (p.Asp1310Val) rs1390590380
NM_000245.4(MET):c.3930C>A (p.Asp1310Glu) rs773763852
NM_000245.4(MET):c.3935+2T>A rs1562941469
NM_000245.4(MET):c.3935+3A>G rs1554402183
NM_000245.4(MET):c.3935+5G>A
NM_000245.4(MET):c.3936-2A>G rs1795654625
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
NM_000245.4(MET):c.3940G>A (p.Glu1314Lys) rs1395763398
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
NM_000245.4(MET):c.395G>A (p.Ser132Asn) rs1791478666
NM_000245.4(MET):c.395G>T (p.Ser132Ile) rs1791478666
NM_000245.4(MET):c.3961C>T (p.His1321Tyr) rs1795655626
NM_000245.4(MET):c.3964C>G (p.Pro1322Ala) rs368312290
NM_000245.4(MET):c.3964C>T (p.Pro1322Ser) rs368312290
NM_000245.4(MET):c.3967A>G (p.Lys1323Glu) rs1584978266
NM_000245.4(MET):c.3968A>G (p.Lys1323Arg)
NM_000245.4(MET):c.3978G>A (p.Met1326Ile) rs1795656686
NM_000245.4(MET):c.3978G>C (p.Met1326Ile) rs1795656686
NM_000245.4(MET):c.3979C>T (p.Arg1327Cys) rs2117111027
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272
NM_000245.4(MET):c.3985T>A (p.Ser1329Thr) rs2117111134
NM_000245.4(MET):c.3986C>G (p.Ser1329Cys) rs1398543726
NM_000245.4(MET):c.3986C>T (p.Ser1329Phe) rs1398543726
NM_000245.4(MET):c.3989T>C (p.Phe1330Ser)
NM_000245.4(MET):c.3991T>C (p.Ser1331Pro) rs1562941559
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala) rs1562941559
NM_000245.4(MET):c.3994G>C (p.Glu1332Gln) rs748382550
NM_000245.4(MET):c.3998T>G (p.Leu1333Arg)
NM_000245.4(MET):c.4000G>T (p.Val1334Leu) rs1795657629
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp) rs1258671501
NM_000245.4(MET):c.4009A>G (p.Ile1337Val)
NM_000245.4(MET):c.4009A>T (p.Ile1337Leu)
NM_000245.4(MET):c.4015G>A (p.Ala1339Thr)
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys) rs2117111729
NM_000245.4(MET):c.4027A>G (p.Thr1343Ala)
NM_000245.4(MET):c.4037G>A (p.Gly1346Glu) rs2117111902
NM_000245.4(MET):c.403A>T (p.Ser135Cys) rs1791478961
NM_000245.4(MET):c.4048G>A (p.Val1350Ile)
NM_000245.4(MET):c.404G>A (p.Ser135Asn) rs1203410917
NM_000245.4(MET):c.4051C>T (p.His1351Tyr) rs2117112144
NM_000245.4(MET):c.4052A>C (p.His1351Pro)
NM_000245.4(MET):c.4052A>G (p.His1351Arg) rs1490801483
NM_000245.4(MET):c.4052A>T (p.His1351Leu) rs1490801483
NM_000245.4(MET):c.4058A>T (p.Asn1353Ile)
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter) rs767214353
NM_000245.4(MET):c.4074C>A (p.Asn1358Lys)
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4086C>A (p.Val1362=) rs753757242
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser) rs45578433
NM_000245.4(MET):c.4092_4093inv (p.Tyr1365His)
NM_000245.4(MET):c.4094A>G (p.Tyr1365Cys) rs1795662590
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
NM_000245.4(MET):c.4096C>A (p.Pro1366Thr) rs1795662723
NM_000245.4(MET):c.4103T>C (p.Leu1368Pro) rs2117112993
NM_000245.4(MET):c.4109C>G (p.Ser1370Ter)
NM_000245.4(MET):c.4112C>T (p.Ser1371Leu)
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala) rs1584978594
NM_000245.4(MET):c.4117G>T (p.Asp1373Tyr)
NM_000245.4(MET):c.4118A>T (p.Asp1373Val) rs773898036
NM_000245.4(MET):c.4120A>G (p.Asn1374Asp)
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4123G>A (p.Ala1375Thr) rs373517956
NM_000245.4(MET):c.4123G>T (p.Ala1375Ser) rs373517956
NM_000245.4(MET):c.4124C>T (p.Ala1375Val)
NM_000245.4(MET):c.4126G>A (p.Asp1376Asn)
NM_000245.4(MET):c.4130A>G (p.Asp1377Gly)
NM_000245.4(MET):c.4132G>A (p.Glu1378Lys) rs1795665686
NM_000245.4(MET):c.4135G>A (p.Val1379Met) rs1554402266
NM_000245.4(MET):c.4136T>G (p.Val1379Gly) rs2117113573
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.4142C>T (p.Thr1381Ile) rs2117113682
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) rs200315561
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu) rs752694306
NM_000245.4(MET):c.4156T>C (p.Phe1386Leu)
NM_000245.4(MET):c.4159T>C (p.Trp1387Arg)
NM_000245.4(MET):c.4162G>A (p.Glu1388Lys)
NM_000245.4(MET):c.4172del (p.Ter1391CysextTer?) rs2117114331
NM_000245.4(MET):c.424C>G (p.Gln142Glu) rs1554378495
NM_000245.4(MET):c.425A>G (p.Gln142Arg) rs768640780
NM_000245.4(MET):c.434T>C (p.Val145Ala)
NM_000245.4(MET):c.439C>T (p.Pro147Ser) rs2116588845
NM_000245.4(MET):c.451A>G (p.Thr151Ala) rs2116589147
NM_000245.4(MET):c.452C>T (p.Thr151Ile) rs1584876832
NM_000245.4(MET):c.457G>A (p.Asp153Asn)
NM_000245.4(MET):c.463C>A (p.Gln155Lys)
NM_000245.4(MET):c.464A>G (p.Gln155Arg) rs2116589485
NM_000245.4(MET):c.465G>T (p.Gln155His) rs863224695
NM_000245.4(MET):c.466T>C (p.Ser156Pro) rs2116589535
NM_000245.4(MET):c.466_467insATGT (p.Ser156fs)
NM_000245.4(MET):c.467del (p.Ser156fs)
NM_000245.4(MET):c.471G>C (p.Glu157Asp) rs1451799154
NM_000245.4(MET):c.472G>T (p.Val158Phe) rs1227091238
NM_000245.4(MET):c.473T>C (p.Val158Ala) rs2116589740
NM_000245.4(MET):c.476A>G (p.His159Arg)
NM_000245.4(MET):c.477C>A (p.His159Gln) rs1584876898
NM_000245.4(MET):c.478T>C (p.Cys160Arg)
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
NM_000245.4(MET):c.482T>C (p.Ile161Thr) rs1060503532
NM_000245.4(MET):c.491C>T (p.Pro164Leu) rs1562883575
NM_000245.4(MET):c.495G>C (p.Gln165His) rs1060503537
NM_000245.4(MET):c.496A>G (p.Ile166Val)
NM_000245.4(MET):c.497T>G (p.Ile166Arg) rs773830746
NM_000245.4(MET):c.498A>G (p.Ile166Met) rs2116590397
NM_000245.4(MET):c.501A>C (p.Glu167Asp) rs1584876986
NM_000245.4(MET):c.505C>T (p.Pro169Ser)
NM_000245.4(MET):c.508A>G (p.Ser170Gly)
NM_000245.4(MET):c.509G>A (p.Ser170Asn) rs1584877029
NM_000245.4(MET):c.50C>G (p.Thr17Ser) rs747777018
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
NM_000245.4(MET):c.522C>G (p.Asp174Glu) rs863224696
NM_000245.4(MET):c.524G>A (p.Cys175Tyr) rs1584877055
NM_000245.4(MET):c.52T>G (p.Leu18Val)
NM_000245.4(MET):c.532A>G (p.Ser178Gly)
NM_000245.4(MET):c.535G>T (p.Ala179Ser) rs753697730
NM_000245.4(MET):c.538C>G (p.Leu180Val) rs1584877113
NM_000245.4(MET):c.550_579dup (p.Ile193_Asn194insValLeuSerSerValLysAspArgPheIle)
NM_000245.4(MET):c.553C>G (p.Leu185Val) rs376097698
NM_000245.4(MET):c.554T>A (p.Leu185His) rs1791489495
NM_000245.4(MET):c.554T>C (p.Leu185Pro) rs1791489495
NM_000245.4(MET):c.559T>A (p.Ser187Thr) rs1791489630
NM_000245.4(MET):c.562G>A (p.Val188Ile) rs2116591991
NM_000245.4(MET):c.568G>A (p.Asp190Asn)
NM_000245.4(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
NM_000245.4(MET):c.570C>G (p.Asp190Glu) rs1791490183
NM_000245.4(MET):c.571C>G (p.Arg191Gly) rs530932258
NM_000245.4(MET):c.572G>T (p.Arg191Leu)
NM_000245.4(MET):c.577A>C (p.Ile193Leu) rs747138607
NM_000245.4(MET):c.581A>C (p.Asn194Thr) rs370170168
NM_000245.4(MET):c.581A>G (p.Asn194Ser) rs370170168
NM_000245.4(MET):c.583T>C (p.Phe195Leu)
NM_000245.4(MET):c.584T>A (p.Phe195Tyr)
NM_000245.4(MET):c.586T>C (p.Phe196Leu)
NM_000245.4(MET):c.589G>A (p.Val197Ile) rs2116592694
NM_000245.4(MET):c.596A>G (p.Asn199Ser) rs1342574948
NM_000245.4(MET):c.601A>G (p.Ile201Val) rs2116592997
NM_000245.4(MET):c.602T>C (p.Ile201Thr) rs2116593025
NM_000245.4(MET):c.605A>C (p.Asn202Thr)
NM_000245.4(MET):c.608C>A (p.Ser203Tyr)
NM_000245.4(MET):c.608C>T (p.Ser203Phe)
NM_000245.4(MET):c.608CTT[1] (p.Ser204del) rs764811491
NM_000245.4(MET):c.610T>C (p.Ser204Pro) rs1791492133
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
NM_000245.4(MET):c.613T>G (p.Tyr205Asp)
NM_000245.4(MET):c.61A>G (p.Arg21Gly)
NM_000245.4(MET):c.622G>T (p.Asp208Tyr) rs2116593557
NM_000245.4(MET):c.628C>A (p.Pro210Thr) rs983457211
NM_000245.4(MET):c.628C>T (p.Pro210Ser) rs983457211
NM_000245.4(MET):c.629del (p.Pro210fs) rs1554378645
NM_000245.4(MET):c.632T>C (p.Leu211Ser)
NM_000245.4(MET):c.635A>T (p.His212Leu)
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
NM_000245.4(MET):c.640A>G (p.Ile214Val) rs786203065
NM_000245.4(MET):c.646G>A (p.Val216Met)
NM_000245.4(MET):c.647T>C (p.Val216Ala) rs1396083482
NM_000245.4(MET):c.653G>T (p.Arg218Met) rs1441045077
NM_000245.4(MET):c.654G>C (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.665C>G (p.Thr222Arg)
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
NM_000245.4(MET):c.66C>A (p.Ser22Arg) rs773018125
NM_000245.4(MET):c.66C>G (p.Ser22Arg)
NM_000245.4(MET):c.674G>A (p.Gly225Asp) rs1791495307
NM_000245.4(MET):c.674G>T (p.Gly225Val) rs1791495307
NM_000245.4(MET):c.679A>G (p.Met227Val)
NM_000245.4(MET):c.680T>C (p.Met227Thr) rs1226545782
NM_000245.4(MET):c.689C>A (p.Thr230Lys)
NM_000245.4(MET):c.693C>A (p.Asp231Glu)
NM_000245.4(MET):c.694C>G (p.Gln232Glu)
NM_000245.4(MET):c.700T>C (p.Tyr234His)
NM_000245.4(MET):c.703A>C (p.Ile235Leu) rs1266863567
NM_000245.4(MET):c.703A>G (p.Ile235Val) rs1266863567
NM_000245.4(MET):c.709G>A (p.Val237Ile) rs757402499
NM_000245.4(MET):c.724A>G (p.Arg242Gly) rs904275312
NM_000245.4(MET):c.728A>G (p.Asp243Gly) rs1562883992
NM_000245.4(MET):c.733T>C (p.Tyr245His)
NM_000245.4(MET):c.738dup (p.Ile247fs) rs1584877533
NM_000245.4(MET):c.73G>T (p.Glu25Ter) rs2116579525
NM_000245.4(MET):c.744G>T (p.Lys248Asn) rs1562884016
NM_000245.4(MET):c.748G>A (p.Val250Ile) rs2116596826
NM_000245.4(MET):c.749T>C (p.Val250Ala) rs2116596855
NM_000245.4(MET):c.754G>A (p.Ala252Thr)
NM_000245.4(MET):c.755C>T (p.Ala252Val) rs1791500546
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
NM_000245.4(MET):c.759T>G (p.Phe253Leu) rs2116597103
NM_000245.4(MET):c.764G>T (p.Ser255Ile) rs1294994065
NM_000245.4(MET):c.765C>T (p.Ser255=) rs2116597275
NM_000245.4(MET):c.767A>G (p.Asn256Ser)
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
NM_000245.4(MET):c.76T>C (p.Cys26Arg) rs2116579595
NM_000245.4(MET):c.770A>G (p.Asn257Ser) rs759388741
NM_000245.4(MET):c.771T>G (p.Asn257Lys) rs2116597435
NM_000245.4(MET):c.774del (p.Phe258fs) rs1281772042
NM_000245.4(MET):c.775_777del (p.Ile259del) rs1791501640
NM_000245.4(MET):c.786G>C (p.Leu262Phe) rs1791501952
NM_000245.4(MET):c.790G>T (p.Val264Phe) rs2116597936
NM_000245.4(MET):c.797G>A (p.Arg266Lys)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.79A>T (p.Lys27Ter) rs2116579656
NM_000245.4(MET):c.7G>A (p.Ala3Thr) rs1416393044
NM_000245.4(MET):c.805C>G (p.Leu269Val) rs781257386
NM_000245.4(MET):c.809A>G (p.Asp270Gly) rs1791503359
NM_000245.4(MET):c.80A>G (p.Lys27Arg) rs555920594
NM_000245.4(MET):c.80_81delinsGG (p.Lys27Arg)
NM_000245.4(MET):c.811G>A (p.Ala271Thr) rs1162540199
NM_000245.4(MET):c.816G>C (p.Gln272His) rs1168091854
NM_000245.4(MET):c.818C>G (p.Thr273Ser) rs368144654
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
NM_000245.4(MET):c.826A>C (p.Thr276Pro) rs769128478
NM_000245.4(MET):c.826A>G (p.Thr276Ala) rs769128478
NM_000245.4(MET):c.826A>T (p.Thr276Ser) rs769128478
NM_000245.4(MET):c.82G>A (p.Glu28Lys) rs1562882876
NM_000245.4(MET):c.82G>C (p.Glu28Gln)
NM_000245.4(MET):c.835A>G (p.Ile279Val)
NM_000245.4(MET):c.836T>C (p.Ile279Thr) rs2116599173
NM_000245.4(MET):c.837C>G (p.Ile279Met)
NM_000245.4(MET):c.838A>G (p.Arg280Gly)
NM_000245.4(MET):c.839G>A (p.Arg280Lys) rs770528254
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
NM_000245.4(MET):c.83A>T (p.Glu28Val)
NM_000245.4(MET):c.841T>C (p.Phe281Leu)
NM_000245.4(MET):c.841T>G (p.Phe281Val) rs1791504987
NM_000245.4(MET):c.844T>G (p.Cys282Gly)
NM_000245.4(MET):c.845G>C (p.Cys282Ser) rs879254343
NM_000245.4(MET):c.84G>C (p.Glu28Asp) rs759602956
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448
NM_000245.4(MET):c.851T>C (p.Ile284Thr) rs2116599526
NM_000245.4(MET):c.856T>G (p.Ser286Ala)
NM_000245.4(MET):c.85G>C (p.Ala29Pro) rs765246117
NM_000245.4(MET):c.85G>T (p.Ala29Ser) rs765246117
NM_000245.4(MET):c.860G>A (p.Gly287Glu)
NM_000245.4(MET):c.860G>C (p.Gly287Ala) rs2116599722
NM_000245.4(MET):c.868T>C (p.Ser290Pro) rs2116599896
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
NM_000245.4(MET):c.874A>G (p.Met292Val) rs1395827839
NM_000245.4(MET):c.875T>G (p.Met292Arg)
NM_000245.4(MET):c.880A>C (p.Met294Leu)
NM_000245.4(MET):c.883C>T (p.Pro295Ser)
NM_000245.4(MET):c.889G>C (p.Glu297Gln)
NM_000245.4(MET):c.891G>C (p.Glu297Asp) rs1791506647
NM_000245.4(MET):c.89T>C (p.Leu30Pro)
NM_000245.4(MET):c.8C>T (p.Ala3Val)
NM_000245.4(MET):c.910A>G (p.Arg304Gly)
NM_000245.4(MET):c.911G>A (p.Arg304Lys)
NM_000245.4(MET):c.914A>G (p.Lys305Arg) rs763935791
NM_000245.4(MET):c.916A>C (p.Lys306Gln) rs1032682239
NM_000245.4(MET):c.917_919del (p.Lys306del) rs1584877929
NM_000245.4(MET):c.920G>A (p.Arg307Lys) rs2116600992
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000245.4(MET):c.926C>T (p.Thr309Ile)
NM_000245.4(MET):c.92C>T (p.Ala31Val)
NM_000245.4(MET):c.930G>T (p.Lys310Asn)
NM_000245.4(MET):c.938T>C (p.Val313Ala) rs1562884246
NM_000245.4(MET):c.940T>G (p.Phe314Val) rs2116601372
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
NM_000245.4(MET):c.947T>C (p.Ile316Thr) rs1584877972
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_000245.4(MET):c.949C>T (p.Leu317Phe) rs750531377
NM_000245.4(MET):c.950T>C (p.Leu317Pro)
NM_000245.4(MET):c.952C>T (p.Gln318Ter) rs1791509642
NM_000245.4(MET):c.955G>T (p.Ala319Ser) rs545332056
NM_000245.4(MET):c.956C>T (p.Ala319Val) rs1791510135
NM_000245.4(MET):c.961T>C (p.Tyr321His) rs2116601933
NM_000245.4(MET):c.962A>G (p.Tyr321Cys)
NM_000245.4(MET):c.965T>A (p.Val322Asp)
NM_000245.4(MET):c.968G>A (p.Ser323Asn) rs2116602095
NM_000245.4(MET):c.970A>C (p.Lys324Gln)
NM_000245.4(MET):c.970A>G (p.Lys324Glu) rs1791511003
NM_000245.4(MET):c.972G>C (p.Lys324Asn)
NM_000245.4(MET):c.973C>A (p.Pro325Thr)
NM_000245.4(MET):c.977G>C (p.Gly326Ala) rs1791511601
NM_000245.4(MET):c.979G>T (p.Ala327Ser) rs2116602432
NM_000245.4(MET):c.985C>G (p.Leu329Val)
NM_000245.4(MET):c.991A>G (p.Arg331Gly) rs1791512225
NM_000245.4(MET):c.992G>T (p.Arg331Ile)
NM_000245.4(MET):c.994C>A (p.Gln332Lys)
NM_000245.4(MET):c.995A>G (p.Gln332Arg) rs1060503529
NM_000245.4(MET):c.998T>C (p.Ile333Thr) rs1584878120
NM_001127500.2(MET):c.(?_-1)_1200+?dup

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