ClinVar Miner

List of variants in gene MET reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1314
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.803C>T (p.Thr268Ile) rs757427533 0.00007
NM_000245.4(MET):c.105G>C (p.Met35Ile) rs376244358 0.00006
NM_000245.4(MET):c.3811G>A (p.Val1271Met) rs751186512 0.00006
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00005
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 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.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1853C>T (p.Thr618Met) rs753407699 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr) rs1177400289 0.00003
NM_000245.4(MET):c.682T>C (p.Phe228Leu) rs921083171 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.1343G>A (p.Gly448Glu) rs750256779 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.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.2585G>C (p.Gly862Ala) rs1394626435 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.34C>T (p.Leu12Phe) rs764455004 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.4090C>T (p.Pro1364Ser) rs765332671 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.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.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.1222G>A (p.Gly408Ser) rs1289461217 0.00001
NM_000245.4(MET):c.1237C>T (p.Arg413Cys) rs201980687 0.00001
NM_000245.4(MET):c.1238G>A (p.Arg413His) rs375391602 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.1306G>A (p.Glu436Lys) rs200740468 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.1437T>G (p.Phe479Leu) rs1346572528 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 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.1552T>A (p.Leu518Met) rs780293990 0.00001
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys) rs1445578353 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.173A>G (p.His58Arg) rs374578653 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 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.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.199A>G (p.Thr67Ala) rs202047059 0.00001
NM_000245.4(MET):c.2076T>G (p.Ile692Met) rs752740791 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 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.2265-23A>G rs750004615 0.00001
NM_000245.4(MET):c.2265-26G>A rs552953455 0.00001
NM_000245.4(MET):c.2265-58dup rs773835391 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.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.2435A>C (p.Gln812Pro) rs777833095 0.00001
NM_000245.4(MET):c.2441C>T (p.Pro814Leu) rs781452657 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.2527C>G (p.Pro843Ala) rs905891313 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 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.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.2795C>T (p.Thr932Ile) rs758486777 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.2914G>A (p.Asp972Asn) rs756031094 0.00001
NM_000245.4(MET):c.2974A>G (p.Thr992Ala) rs774433287 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.3064C>T (p.Arg1022Ter) rs1193441628 0.00001
NM_000245.4(MET):c.308G>A (p.Ser103Asn) rs768675699 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.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.3220A>G (p.Ser1074Gly) rs764947837 0.00001
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser) rs1794954978 0.00001
NM_000245.4(MET):c.3250A>G (p.Ile1084Val) rs757539632 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.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.377A>G (p.Tyr126Cys) rs542267057 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.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.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.427C>T (p.Arg143Ter) rs779093896 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.481A>G (p.Ile161Val) rs1584876914 0.00001
NM_000245.4(MET):c.490C>G (p.Pro164Ala) rs765759353 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.599C>A (p.Thr200Asn) rs786202727 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.821T>C (p.Phe274Ser) rs758569834 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.965T>C (p.Val322Ala) rs1306040798 0.00001
NM_000245.4(MET):c.983A>G (p.Gln328Arg) rs1165913241 0.00001
NM_000245.4(MET):c.-12_17del (p.Met1fs) rs1562882716
NM_000245.4(MET):c.-2T>C
NM_000245.4(MET):c.-3A>G
NM_000245.4(MET):c.-3A>T rs963663507
NM_000245.4(MET):c.1000G>A (p.Gly334Arg)
NM_000245.4(MET):c.1007G>C (p.Ser336Thr)
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.1010T>G (p.Leu337Arg)
NM_000245.4(MET):c.1014T>A (p.Asn338Lys)
NM_000245.4(MET):c.1014T>G (p.Asn338Lys)
NM_000245.4(MET):c.1021A>G (p.Ile341Val) rs1791513686
NM_000245.4(MET):c.1024C>G (p.Leu342Val) rs749082043
NM_000245.4(MET):c.1031G>A (p.Gly344Glu)
NM_000245.4(MET):c.1036T>C (p.Phe346Leu) rs1791514789
NM_000245.4(MET):c.103A>G (p.Met35Val)
NM_000245.4(MET):c.1040C>T (p.Ala347Val)
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
NM_000245.4(MET):c.1048A>T (p.Lys350Ter)
NM_000245.4(MET):c.104T>C (p.Met35Thr)
NM_000245.4(MET):c.1051C>A (p.Pro351Thr)
NM_000245.4(MET):c.1058C>T (p.Ser353Phe) rs1791516755
NM_000245.4(MET):c.105G>T (p.Met35Ile)
NM_000245.4(MET):c.1061C>A (p.Ala354Asp)
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
NM_000245.4(MET):c.1067del (p.Pro356fs)
NM_000245.4(MET):c.1072G>C (p.Asp358His) rs758919662
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
NM_000245.4(MET):c.1081G>A (p.Ala361Thr)
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>T (p.Met362Leu)
NM_000245.4(MET):c.1086G>A (p.Met362Ile) rs779724665
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.1090G>T (p.Ala364Ser)
NM_000245.4(MET):c.1094T>C (p.Phe365Ser)
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>T (p.Val370Phe)
NM_000245.4(MET):c.110T>G (p.Val37Gly)
NM_000245.4(MET):c.1113C>A (p.Asn371Lys) rs772014416
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1123A>G (p.Asn375Asp) rs1375932394
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
NM_000245.4(MET):c.1130T>C (p.Ile377Thr)
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1137C>A (p.Asn379Lys)
NM_000245.4(MET):c.1143C>A (p.Asn381Lys)
NM_000245.4(MET):c.1144A>C (p.Asn382His)
NM_000245.4(MET):c.1144A>G (p.Asn382Asp)
NM_000245.4(MET):c.1144A>T (p.Asn382Tyr) rs1791522873
NM_000245.4(MET):c.1147G>A (p.Val383Met)
NM_000245.4(MET):c.1149G>A (p.Val383=) rs1033586067
NM_000245.4(MET):c.1151G>T (p.Arg384Ile)
NM_000245.4(MET):c.1151_1152delinsTG (p.Arg384Met)
NM_000245.4(MET):c.1152A>C (p.Arg384Ser)
NM_000245.4(MET):c.1152A>T (p.Arg384Ser)
NM_000245.4(MET):c.1153T>A (p.Cys385Ser) rs1562884601
NM_000245.4(MET):c.1153T>C (p.Cys385Arg)
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.116T>C (p.Met39Thr) rs879254330
NM_000245.4(MET):c.1172G>T (p.Gly391Val) rs1584878602
NM_000245.4(MET):c.117G>A (p.Met39Ile)
NM_000245.4(MET):c.1185G>C (p.Glu395Asp)
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr) rs1584878668
NM_000245.4(MET):c.1186C>A (p.His396Asn) rs1282638781
NM_000245.4(MET):c.1186C>T (p.His396Tyr)
NM_000245.4(MET):c.1187A>C (p.His396Pro) rs2116607543
NM_000245.4(MET):c.1200+2T>C
NM_000245.4(MET):c.1200G>A (p.Arg400=) rs1554379254
NM_000245.4(MET):c.1201-3C>A
NM_000245.4(MET):c.1201A>G (p.Thr401Ala)
NM_000245.4(MET):c.1202C>A (p.Thr401Lys)
NM_000245.4(MET):c.1205T>C (p.Leu402Pro)
NM_000245.4(MET):c.1207C>A (p.Leu403Met) rs202236031
NM_000245.4(MET):c.1213A>T (p.Asn405Tyr)
NM_000245.4(MET):c.1220C>T (p.Ser407Leu) rs764580322
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.1237C>G (p.Arg413Gly)
NM_000245.4(MET):c.124C>A (p.Gln42Lys)
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.1265C>T (p.Thr422Ile) rs1793012257
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
NM_000245.4(MET):c.1268C>T (p.Ala423Val)
NM_000245.4(MET):c.126G>C (p.Gln42His)
NM_000245.4(MET):c.1274A>T (p.Gln425Leu)
NM_000245.4(MET):c.1275G>T (p.Gln425His)
NM_000245.4(MET):c.1276C>T (p.Arg426Cys) rs774779741
NM_000245.4(MET):c.1285T>A (p.Leu429Ile) rs911380470
NM_000245.4(MET):c.1287A>C (p.Leu429Phe) rs1793014361
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.1291A>T (p.Met431Leu)
NM_000245.4(MET):c.1294G>A (p.Gly432Ser)
NM_000245.4(MET):c.1297C>G (p.Gln433Glu) rs1584914144
NM_000245.4(MET):c.1298A>T (p.Gln433Leu)
NM_000245.4(MET):c.1300T>C (p.Phe434Leu)
NM_000245.4(MET):c.1305C>G (p.Ser435Arg)
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.1312C>A (p.Leu438Ile)
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1312C>T (p.Leu438Phe)
NM_000245.4(MET):c.131C>A (p.Pro44His) rs1554378225
NM_000245.4(MET):c.1324A>G (p.Ile442Val)
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
NM_000245.4(MET):c.1340A>G (p.Lys447Arg) rs1584914259
NM_000245.4(MET):c.1342G>A (p.Gly448Arg) rs1584914261
NM_000245.4(MET):c.1342G>C (p.Gly448Arg)
NM_000245.4(MET):c.1352C>T (p.Thr451Ile)
NM_000245.4(MET):c.1354A>G (p.Ile452Val) rs1793018926
NM_000245.4(MET):c.1358C>T (p.Ala453Val)
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1361A>G (p.Asn454Ser)
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1375G>A (p.Glu459Lys)
NM_000245.4(MET):c.1376A>G (p.Glu459Gly)
NM_000245.4(MET):c.1381C>T (p.Arg461Cys) rs1584914359
NM_000245.4(MET):c.1388T>A (p.Met463Lys) rs1584914382
NM_000245.4(MET):c.1388T>G (p.Met463Arg) rs1584914382
NM_000245.4(MET):c.1388_1390delinsAGG (p.Met463_Gln464delinsLysGlu)
NM_000245.4(MET):c.1389G>C (p.Met463Ile)
NM_000245.4(MET):c.1389G>T (p.Met463Ile)
NM_000245.4(MET):c.1390C>G (p.Gln464Glu) rs1584914402
NM_000245.4(MET):c.1393-3T>C
NM_000245.4(MET):c.1396G>A (p.Val466Met)
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.13G>T (p.Ala5Ser)
NM_000245.4(MET):c.1400T>A (p.Val467Asp)
NM_000245.4(MET):c.1406G>C (p.Arg469Pro) rs752842662
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
NM_000245.4(MET):c.1411G>A (p.Gly471Arg) rs1207715563
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
NM_000245.4(MET):c.1417T>C (p.Ser473Pro) rs2116826038
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1423C>T (p.Pro475Ser)
NM_000245.4(MET):c.1424C>T (p.Pro475Leu) rs1793380035
NM_000245.4(MET):c.1427A>G (p.His476Arg)
NM_000245.4(MET):c.1427A>T (p.His476Leu)
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1430T>G (p.Val477Gly)
NM_000245.4(MET):c.143C>A (p.Ala48Glu)
NM_000245.4(MET):c.143C>T (p.Ala48Val) rs80256822
NM_000245.4(MET):c.1441C>A (p.Leu481Met) rs1012909374
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.1459T>A (p.Ser487Thr) rs1584922045
NM_000245.4(MET):c.145G>A (p.Glu49Lys) rs1060503528
NM_000245.4(MET):c.1460C>T (p.Ser487Phe)
NM_000245.4(MET):c.1462C>T (p.Pro488Ser)
NM_000245.4(MET):c.1465G>A (p.Glu489Lys) rs1391853762
NM_000245.4(MET):c.1465G>C (p.Glu489Gln)
NM_000245.4(MET):c.1471A>C (p.Ile491Leu)
NM_000245.4(MET):c.1474G>T (p.Val492Leu)
NM_000245.4(MET):c.1475T>C (p.Val492Ala)
NM_000245.4(MET):c.1475T>G (p.Val492Gly)
NM_000245.4(MET):c.1481A>C (p.His494Pro)
NM_000245.4(MET):c.1483A>G (p.Thr495Ala)
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1491C>A (p.Asn497Lys)
NM_000245.4(MET):c.1493A>G (p.Gln498Arg)
NM_000245.4(MET):c.1496A>C (p.Asn499Thr) rs1253878709
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
NM_000245.4(MET):c.149C>A (p.Thr50Lys)
NM_000245.4(MET):c.1519G>A (p.Gly507Arg)
NM_000245.4(MET):c.1528-5C>G
NM_000245.4(MET):c.1535A>C (p.Lys512Thr) rs1793417875
NM_000245.4(MET):c.1536G>T (p.Lys512Asn) rs1584923073
NM_000245.4(MET):c.1538T>C (p.Ile513Thr) rs1584923080
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
NM_000245.4(MET):c.1541C>A (p.Pro514Gln) rs1793418567
NM_000245.4(MET):c.1541C>T (p.Pro514Leu)
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
NM_000245.4(MET):c.1553T>C (p.Leu518Ser) rs2116834331
NM_000245.4(MET):c.1556G>T (p.Gly519Val)
NM_000245.4(MET):c.1558T>C (p.Cys520Arg) rs1584923126
NM_000245.4(MET):c.1561A>G (p.Arg521Gly) rs1176112251
NM_000245.4(MET):c.1565A>G (p.His522Arg)
NM_000245.4(MET):c.1567T>A (p.Phe523Ile)
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1570C>G (p.Gln524Glu) rs2116834835
NM_000245.4(MET):c.1570C>T (p.Gln524Ter)
NM_000245.4(MET):c.1572G>C (p.Gln524His)
NM_000245.4(MET):c.1574C>T (p.Ser525Phe)
NM_000245.4(MET):c.1577G>A (p.Cys526Tyr) rs1584923176
NM_000245.4(MET):c.157C>G (p.Gln53Glu)
NM_000245.4(MET):c.1587C>A (p.Cys529Ter)
NM_000245.4(MET):c.1588C>T (p.Leu530Phe)
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.1599A>T (p.Pro533=)
NM_000245.4(MET):c.1601C>T (p.Pro534Leu) rs1793422444
NM_000245.4(MET):c.1606G>A (p.Val536Ile)
NM_000245.4(MET):c.1606G>C (p.Val536Leu)
NM_000245.4(MET):c.1610A>C (p.Gln537Pro)
NM_000245.4(MET):c.1618T>A (p.Trp540Arg)
NM_000245.4(MET):c.1619G>A (p.Trp540Ter)
NM_000245.4(MET):c.161A>C (p.Asn54Thr)
NM_000245.4(MET):c.1620G>A (p.Trp540Ter)
NM_000245.4(MET):c.1624C>G (p.His542Asp)
NM_000245.4(MET):c.1625A>G (p.His542Arg)
NM_000245.4(MET):c.1626C>A (p.His542Gln) rs762898756
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
NM_000245.4(MET):c.1635T>G (p.Cys545Trp)
NM_000245.4(MET):c.1636dup (p.Val546fs)
NM_000245.4(MET):c.1637T>A (p.Val546Glu) rs993463693
NM_000245.4(MET):c.1639C>G (p.Arg547Gly)
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.1646A>G (p.Glu549Gly)
NM_000245.4(MET):c.1661G>C (p.Gly554Ala)
NM_000245.4(MET):c.1663A>T (p.Thr555Ser)
NM_000245.4(MET):c.1664C>A (p.Thr555Lys)
NM_000245.4(MET):c.1664C>T (p.Thr555Ile)
NM_000245.4(MET):c.1666T>C (p.Trp556Arg)
NM_000245.4(MET):c.1675C>T (p.Gln559Ter)
NM_000245.4(MET):c.1678A>C (p.Ile560Leu)
NM_000245.4(MET):c.1678A>G (p.Ile560Val) rs1351634349
NM_000245.4(MET):c.1681T>G (p.Cys561Gly)
NM_000245.4(MET):c.1691C>T (p.Ala564Val)
NM_000245.4(MET):c.1694T>G (p.Ile565Ser)
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.1702-1G>C rs747390610
NM_000245.4(MET):c.1702-5T>A
NM_000245.4(MET):c.1702G>A (p.Val568Ile)
NM_000245.4(MET):c.170T>C (p.Leu57Pro)
NM_000245.4(MET):c.1715G>T (p.Ser572Ile)
NM_000245.4(MET):c.1718C>T (p.Ala573Val) rs1429917144
NM_000245.4(MET):c.1732G>A (p.Gly578Arg) rs1584939128
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
NM_000245.4(MET):c.1741C>G (p.Leu581Val)
NM_000245.4(MET):c.1747A>T (p.Ile583Leu)
NM_000245.4(MET):c.174T>G (p.His58Gln) rs1554378291
NM_000245.4(MET):c.1757G>T (p.Trp586Leu)
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
NM_000245.4(MET):c.1770T>G (p.Phe590Leu) rs199542598
NM_000245.4(MET):c.1771C>G (p.Arg591Gly)
NM_000245.4(MET):c.1784A>C (p.Lys595Thr) rs1584939204
NM_000245.4(MET):c.1786T>C (p.Phe596Leu)
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.1790A>G (p.Asp597Gly)
NM_000245.4(MET):c.1792T>A (p.Leu598Ile)
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
NM_000245.4(MET):c.179A>G (p.His60Arg) rs776426414
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.1805G>T (p.Arg602Ile)
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.1813C>T (p.Leu605Phe) rs774945178
NM_000245.4(MET):c.1814T>C (p.Leu605Pro)
NM_000245.4(MET):c.1817G>T (p.Gly606Val)
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.1825A>G (p.Ser609Gly)
NM_000245.4(MET):c.1826G>A (p.Ser609Asn) rs1554394973
NM_000245.4(MET):c.1827C>G (p.Ser609Arg)
NM_000245.4(MET):c.1831A>C (p.Thr611Pro)
NM_000245.4(MET):c.1838C>A (p.Thr613Asn) rs1258088041
NM_000245.4(MET):c.1848G>T (p.Glu616Asp)
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys) rs1794145066
NM_000245.4(MET):c.1849A>T (p.Ser617Cys)
NM_000245.4(MET):c.184A>G (p.Ile62Val)
NM_000245.4(MET):c.1850G>A (p.Ser617Asn) rs1481812764
NM_000245.4(MET):c.1852A>T (p.Thr618Ser)
NM_000245.4(MET):c.1853C>A (p.Thr618Lys)
NM_000245.4(MET):c.1862+1G>A rs1013431413
NM_000245.4(MET):c.1863-5T>C rs751421114
NM_000245.4(MET):c.1865T>G (p.Leu622Trp) rs1794220084
NM_000245.4(MET):c.1868A>T (p.Lys623Ile)
NM_000245.4(MET):c.1871G>T (p.Cys624Phe) rs1794220294
NM_000245.4(MET):c.1879G>A (p.Gly627Ser)
NM_000245.4(MET):c.1880G>A (p.Gly627Asp)
NM_000245.4(MET):c.1883C>T (p.Pro628Leu)
NM_000245.4(MET):c.1886C>T (p.Ala629Val)
NM_000245.4(MET):c.1888A>C (p.Met630Leu)
NM_000245.4(MET):c.1888A>G (p.Met630Val)
NM_000245.4(MET):c.1895A>G (p.Lys632Arg)
NM_000245.4(MET):c.1896G>T (p.Lys632Asn) rs749484691
NM_000245.4(MET):c.1902C>G (p.Phe634Leu) rs772450441
NM_000245.4(MET):c.1905T>A (p.Asn635Lys)
NM_000245.4(MET):c.190C>G (p.Leu64Val) rs1791466070
NM_000245.4(MET):c.1914A>G (p.Ile638Met)
NM_000245.4(MET):c.1917T>G (p.Ile639Met) rs1554395373
NM_000245.4(MET):c.1918A>C (p.Ile640Leu)
NM_000245.4(MET):c.1924A>G (p.Asn642Asp) rs1554395374
NM_000245.4(MET):c.1924A>T (p.Asn642Tyr)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.1933G>C (p.Gly645Arg)
NM_000245.4(MET):c.1937C>T (p.Thr646Ile) rs751307227
NM_000245.4(MET):c.1944A>C (p.Gln648His)
NM_000245.4(MET):c.1946A>G (p.Tyr649Cys)
NM_000245.4(MET):c.1948A>C (p.Ser650Arg)
NM_000245.4(MET):c.1948A>G (p.Ser650Gly)
NM_000245.4(MET):c.1948A>T (p.Ser650Cys)
NM_000245.4(MET):c.1948_1949delinsCA (p.Ser650His)
NM_000245.4(MET):c.1949G>A (p.Ser650Asn)
NM_000245.4(MET):c.1952C>T (p.Thr651Ile) rs2116921189
NM_000245.4(MET):c.1953A>G (p.Thr651=) rs2116921218
NM_000245.4(MET):c.1956C>G (p.Phe652Leu)
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.1960T>C (p.Tyr654His)
NM_000245.4(MET):c.1961A>G (p.Tyr654Cys) rs1554395399
NM_000245.4(MET):c.1965+1G>A
NM_000245.4(MET):c.1965+4A>C rs1362532895
NM_000245.4(MET):c.1966-5T>C
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
NM_000245.4(MET):c.1972G>C (p.Val658Leu) rs587778446
NM_000245.4(MET):c.1979C>T (p.Thr660Ile) rs1584941563
NM_000245.4(MET):c.197C>T (p.Ala66Val)
NM_000245.4(MET):c.1982G>A (p.Ser661Asn) rs755139610
NM_000245.4(MET):c.1991C>T (p.Pro664Leu) rs1367341975
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
NM_000245.4(MET):c.2003C>T (p.Pro668Leu)
NM_000245.4(MET):c.2005A>G (p.Met669Val) rs1344902873
NM_000245.4(MET):c.2009C>T (p.Ala670Val)
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2018C>G (p.Thr673Ser) rs1401138460
NM_000245.4(MET):c.2021T>C (p.Leu674Ser)
NM_000245.4(MET):c.2029T>G (p.Leu677Val)
NM_000245.4(MET):c.2038A>G (p.Asn680Asp)
NM_000245.4(MET):c.2048A>G (p.Asn683Ser)
NM_000245.4(MET):c.2050A>G (p.Ser684Gly) rs1554395462
NM_000245.4(MET):c.2054G>A (p.Gly685Glu) rs1584941747
NM_000245.4(MET):c.2059T>C (p.Ser687Pro) rs1562922167
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
NM_000245.4(MET):c.2076del (p.Ile692fs)
NM_000245.4(MET):c.2080G>A (p.Gly694Arg) rs2116925025
NM_000245.4(MET):c.2089T>C (p.Cys697Arg)
NM_000245.4(MET):c.208A>G (p.Ile70Val) rs2116582927
NM_000245.4(MET):c.2090G>A (p.Cys697Tyr)
NM_000245.4(MET):c.2099A>G (p.Lys700Arg) rs751907602
NM_000245.4(MET):c.2101A>G (p.Ser701Gly)
NM_000245.4(MET):c.2102+1G>C
NM_000245.4(MET):c.2102+5T>A rs1794247110
NM_000245.4(MET):c.2102+5T>G rs1794247110
NM_000245.4(MET):c.2102G>T (p.Ser701Ile)
NM_000245.4(MET):c.2110A>T (p.Asn704Tyr)
NM_000245.4(MET):c.2114G>A (p.Ser705Asn) rs1003586623
NM_000245.4(MET):c.2118T>G (p.Ile706Met)
NM_000245.4(MET):c.2124_2135delinsCACTGTTTCA (p.Glu708fs)
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.2156A>G (p.Glu719Gly)
NM_000245.4(MET):c.2167A>T (p.Lys723Ter)
NM_000245.4(MET):c.2176A>G (p.Ile726Val) rs1794275336
NM_000245.4(MET):c.2185G>T (p.Ala729Ser)
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.2194G>A (p.Glu732Lys)
NM_000245.4(MET):c.2194G>C (p.Glu732Gln)
NM_000245.4(MET):c.2195A>G (p.Glu732Gly)
NM_000245.4(MET):c.2197A>G (p.Thr733Ala)
NM_000245.4(MET):c.2203A>G (p.Ile735Val) rs1398648043
NM_000245.4(MET):c.2204T>C (p.Ile735Thr)
NM_000245.4(MET):c.2209A>G (p.Ser737Gly) rs755571526
NM_000245.4(MET):c.2209A>T (p.Ser737Cys)
NM_000245.4(MET):c.2215C>A (p.Arg739Ser)
NM_000245.4(MET):c.2215C>G (p.Arg739Gly) rs45587940
NM_000245.4(MET):c.2216G>T (p.Arg739Leu)
NM_000245.4(MET):c.221A>G (p.Asn74Ser)
NM_000245.4(MET):c.2221G>A (p.Asp741Asn) rs1318406399
NM_000245.4(MET):c.2224C>A (p.Pro742Thr)
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
NM_000245.4(MET):c.2227A>G (p.Ile743Val)
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
NM_000245.4(MET):c.2236G>T (p.Glu746Ter)
NM_000245.4(MET):c.2242C>A (p.His748Asn) rs2116932590
NM_000245.4(MET):c.2243A>G (p.His748Arg)
NM_000245.4(MET):c.2248A>G (p.Thr750Ala) rs1060503531
NM_000245.4(MET):c.2252A>G (p.Lys751Arg)
NM_000245.4(MET):c.2254T>A (p.Ser752Thr)
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
NM_000245.4(MET):c.2258T>C (p.Phe753Ser)
NM_000245.4(MET):c.2258T>G (p.Phe753Cys)
NM_000245.4(MET):c.2260A>T (p.Ile754Phe)
NM_000245.4(MET):c.2263A>C (p.Ser755Arg) rs981401332
NM_000245.4(MET):c.2264+1G>C
NM_000245.4(MET):c.2265-10G>T rs1355716761
NM_000245.4(MET):c.2265-18T>C
NM_000245.4(MET):c.2265-24C>G
NM_000245.4(MET):c.2265-25T>A
NM_000245.4(MET):c.2265-25T>G
NM_000245.4(MET):c.2265-29A>G
NM_000245.4(MET):c.2265-29A>T rs2116937133
NM_000245.4(MET):c.2265-31A>G rs370237186
NM_000245.4(MET):c.2265-37C>G
NM_000245.4(MET):c.2265-37C>T
NM_000245.4(MET):c.2265-38C>T
NM_000245.4(MET):c.2265-41G>A rs1554395868
NM_000245.4(MET):c.2265-42del rs1554395864
NM_000245.4(MET):c.2265-46G>T rs1584943653
NM_000245.4(MET):c.2265-47T>C
NM_000245.4(MET):c.2265-49G>C rs1196543273
NM_000245.4(MET):c.2265-52C>G
NM_000245.4(MET):c.2265-56A>G rs1554395861
NM_000245.4(MET):c.2265-57C>T rs1562923455
NM_000245.4(MET):c.2265-8T>C
NM_000245.4(MET):c.2276C>A (p.Thr759Lys) rs1794309783
NM_000245.4(MET):c.2282C>T (p.Thr761Ile)
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>T (p.Gly762Val)
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.2298C>A (p.Asn766Lys)
NM_000245.4(MET):c.22G>T (p.Ala8Ser)
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
NM_000245.4(MET):c.2309T>G (p.Val770Gly)
NM_000245.4(MET):c.2312G>A (p.Ser771Asn)
NM_000245.4(MET):c.2314G>A (p.Val772Ile)
NM_000245.4(MET):c.2317C>T (p.Pro773Ser) rs2116938395
NM_000245.4(MET):c.2324T>A (p.Met775Lys)
NM_000245.4(MET):c.2327T>G (p.Val776Gly)
NM_000245.4(MET):c.2334T>A (p.Asn778Lys)
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.2336T>A (p.Val779Glu)
NM_000245.4(MET):c.2336T>C (p.Val779Ala)
NM_000245.4(MET):c.2339A>C (p.His780Pro)
NM_000245.4(MET):c.2351G>A (p.Arg784Lys) rs1794313115
NM_000245.4(MET):c.2353A>G (p.Asn785Asp)
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>A (p.Val788Glu)
NM_000245.4(MET):c.2363T>C (p.Val788Ala) rs786204142
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
NM_000245.4(MET):c.2364+1G>T
NM_000245.4(MET):c.2364+3A>G
NM_000245.4(MET):c.2368T>C (p.Cys790Arg)
NM_000245.4(MET):c.236A>C (p.Gln79Pro)
NM_000245.4(MET):c.2373A>T (p.Gln791His) rs760294359
NM_000245.4(MET):c.2375A>T (p.His792Leu)
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.2383A>C (p.Asn795His)
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2389G>C (p.Glu797Gln)
NM_000245.4(MET):c.2390A>G (p.Glu797Gly)
NM_000245.4(MET):c.2392A>C (p.Ile798Leu)
NM_000245.4(MET):c.2392A>T (p.Ile798Leu) rs1794459560
NM_000245.4(MET):c.2399G>A (p.Cys800Tyr)
NM_000245.4(MET):c.2401T>C (p.Cys801Arg) rs1794461185
NM_000245.4(MET):c.2402G>C (p.Cys801Ser)
NM_000245.4(MET):c.2413T>G (p.Ser805Ala)
NM_000245.4(MET):c.2414C>A (p.Ser805Tyr)
NM_000245.4(MET):c.2417T>G (p.Leu806Arg)
NM_000245.4(MET):c.2421A>G (p.Gln807=)
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.2437C>G (p.Leu813Val)
NM_000245.4(MET):c.2437C>T (p.Leu813Phe) rs745345346
NM_000245.4(MET):c.2441C>A (p.Pro814His)
NM_000245.4(MET):c.2441C>G (p.Pro814Arg)
NM_000245.4(MET):c.2444T>C (p.Leu815Pro) rs1554396571
NM_000245.4(MET):c.2446A>G (p.Lys816Glu)
NM_000245.4(MET):c.2450C>T (p.Thr817Ile)
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.2465T>G (p.Met822Arg)
NM_000245.4(MET):c.2470G>A (p.Asp824Asn)
NM_000245.4(MET):c.2472T>G (p.Asp824Glu) rs1463527073
NM_000245.4(MET):c.2477T>C (p.Ile826Thr)
NM_000245.4(MET):c.247G>A (p.Glu83Lys)
NM_000245.4(MET):c.2483C>A (p.Ser828Tyr)
NM_000245.4(MET):c.2488T>A (p.Tyr830Asn)
NM_000245.4(MET):c.2488T>C (p.Tyr830His) rs1794468017
NM_000245.4(MET):c.248A>G (p.Glu83Gly)
NM_000245.4(MET):c.2491T>C (p.Phe831Leu)
NM_000245.4(MET):c.2494G>C (p.Asp832His)
NM_000245.4(MET):c.2497C>T (p.Leu833Phe)
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.2502T>G (p.Ile834Met)
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
NM_000245.4(MET):c.2506G>A (p.Val836Ile) rs372699296
NM_000245.4(MET):c.2509C>T (p.His837Tyr) rs1584947043
NM_000245.4(MET):c.250T>C (p.Tyr84His)
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>G (p.Pro839Ala)
NM_000245.4(MET):c.2518G>T (p.Val840Leu)
NM_000245.4(MET):c.2523_2526dup (p.Pro843Ter)
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.2538G>C (p.Lys846Asn) rs1562925732
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.2540C>T (p.Pro847Leu)
NM_000245.4(MET):c.2547G>T (p.Met849Ile) rs747989932
NM_000245.4(MET):c.2549T>C (p.Ile850Thr)
NM_000245.4(MET):c.2550C>G (p.Ile850Met)
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.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.256A>G (p.Thr86Ala)
NM_000245.4(MET):c.2575G>A (p.Glu859Lys)
NM_000245.4(MET):c.2576A>T (p.Glu859Val)
NM_000245.4(MET):c.2578A>G (p.Ile860Val)
NM_000245.4(MET):c.2581A>C (p.Lys861Gln)
NM_000245.4(MET):c.2582A>G (p.Lys861Arg) rs895820328
NM_000245.4(MET):c.2583+1G>A
NM_000245.4(MET):c.2583+5G>A rs1432247099
NM_000245.4(MET):c.2583G>A (p.Lys861=) rs1584947168
NM_000245.4(MET):c.2589T>G (p.Asn863Lys)
NM_000245.4(MET):c.2596G>T (p.Asp866Tyr)
NM_000245.4(MET):c.2599C>A (p.Pro867Thr)
NM_000245.4(MET):c.2605G>A (p.Ala869Thr)
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
NM_000245.4(MET):c.260G>A (p.Gly87Glu)
NM_000245.4(MET):c.2612A>G (p.Lys871Arg)
NM_000245.4(MET):c.2616dup (p.Glu873Ter)
NM_000245.4(MET):c.2617G>A (p.Glu873Lys)
NM_000245.4(MET):c.2619A>C (p.Glu873Asp)
NM_000245.4(MET):c.2620G>A (p.Val874Met) rs1299130122
NM_000245.4(MET):c.2620G>T (p.Val874Leu)
NM_000245.4(MET):c.2629G>C (p.Val877Leu)
NM_000245.4(MET):c.262C>G (p.Pro88Ala) rs1169278904
NM_000245.4(MET):c.262C>T (p.Pro88Ser)
NM_000245.4(MET):c.2630T>C (p.Val877Ala)
NM_000245.4(MET):c.2633G>T (p.Gly878Val)
NM_000245.4(MET):c.2636A>G (p.Asn879Ser)
NM_000245.4(MET):c.2638A>C (p.Lys880Gln)
NM_000245.4(MET):c.2638A>G (p.Lys880Glu) rs2116983288
NM_000245.4(MET):c.2640G>C (p.Lys880Asn)
NM_000245.4(MET):c.2640G>T (p.Lys880Asn)
NM_000245.4(MET):c.2647G>A (p.Glu883Lys) rs769253547
NM_000245.4(MET):c.2654T>C (p.Ile885Thr)
NM_000245.4(MET):c.2657A>G (p.His886Arg) rs2116983578
NM_000245.4(MET):c.2657A>T (p.His886Leu)
NM_000245.4(MET):c.2658C>G (p.His886Gln)
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>C (p.His888Pro)
NM_000245.4(MET):c.2668G>C (p.Glu890Gln)
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.2676_2680del (p.Leu893fs)
NM_000245.4(MET):c.2681G>A (p.Cys894Tyr)
NM_000245.4(MET):c.2683A>G (p.Thr895Ala)
NM_000245.4(MET):c.2687T>C (p.Val896Ala)
NM_000245.4(MET):c.2689C>G (p.Pro897Ala)
NM_000245.4(MET):c.2691dup (p.Asn898fs)
NM_000245.4(MET):c.2696A>T (p.Asp899Val)
NM_000245.4(MET):c.269T>C (p.Leu90Pro) rs1291977283
NM_000245.4(MET):c.2701C>G (p.Leu901Val) rs1384134548
NM_000245.4(MET):c.2704A>C (p.Lys902Gln)
NM_000245.4(MET):c.2711A>G (p.Asn904Ser) rs765441927
NM_000245.4(MET):c.2715C>G (p.Ser905Arg)
NM_000245.4(MET):c.2725A>G (p.Ile909Val)
NM_000245.4(MET):c.272A>G (p.Glu91Gly) rs1791471735
NM_000245.4(MET):c.2730+2T>A
NM_000245.4(MET):c.2730+5G>T
NM_000245.4(MET):c.2731-3T>C
NM_000245.4(MET):c.2731T>C (p.Trp911Arg)
NM_000245.4(MET):c.2736G>C (p.Lys912Asn) rs1794830011
NM_000245.4(MET):c.2739A>C (p.Gln913His)
NM_000245.4(MET):c.2741C>A (p.Ala914Glu)
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr) rs1288860579
NM_000245.4(MET):c.274C>A (p.His92Asn) rs1375872823
NM_000245.4(MET):c.274C>G (p.His92Asp) rs1375872823
NM_000245.4(MET):c.2752A>C (p.Thr918Pro)
NM_000245.4(MET):c.2752A>G (p.Thr918Ala)
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
NM_000245.4(MET):c.2765A>G (p.Lys922Arg)
NM_000245.4(MET):c.2766A>G (p.Lys922=)
NM_000245.4(MET):c.2767G>A (p.Val923Ile) rs1794832354
NM_000245.4(MET):c.2768T>A (p.Val923Glu)
NM_000245.4(MET):c.2768T>C (p.Val923Ala)
NM_000245.4(MET):c.2770A>G (p.Ile924Val) rs1247472138
NM_000245.4(MET):c.2774T>C (p.Val925Ala) rs922442405
NM_000245.4(MET):c.2779C>T (p.Pro927Ser)
NM_000245.4(MET):c.2785C>G (p.Gln929Glu)
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.2791T>A (p.Phe931Ile) rs1562930067
NM_000245.4(MET):c.2812G>A (p.Val938Ile)
NM_000245.4(MET):c.2813T>C (p.Val938Ala) rs1554398288
NM_000245.4(MET):c.2816T>G (p.Val939Gly)
NM_000245.4(MET):c.2822T>C (p.Ile941Thr)
NM_000245.4(MET):c.2823A>G (p.Ile941Met)
NM_000245.4(MET):c.2827A>G (p.Thr943Ala)
NM_000245.4(MET):c.2834T>A (p.Leu945Gln)
NM_000245.4(MET):c.2845C>T (p.Leu949Phe)
NM_000245.4(MET):c.2846T>A (p.Leu949His)
NM_000245.4(MET):c.2846T>G (p.Leu949Arg)
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
NM_000245.4(MET):c.2851T>G (p.Phe951Val)
NM_000245.4(MET):c.2860T>A (p.Trp954Arg)
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
NM_000245.4(MET):c.2867A>C (p.Lys956Thr)
NM_000245.4(MET):c.2871G>C (p.Lys957Asn)
NM_000245.4(MET):c.2873G>T (p.Arg958Ile)
NM_000245.4(MET):c.287T>G (p.Phe96Cys) rs371941340
NM_000245.4(MET):c.2887+1G>A
NM_000245.4(MET):c.2887+3G>A
NM_000245.4(MET):c.2887+3G>T
NM_000245.4(MET):c.2887+5A>T rs752292538
NM_000245.4(MET):c.2888-28_2888-2del
NM_000245.4(MET):c.2888A>G (p.Asp963Gly) rs1554398360
NM_000245.4(MET):c.288C>A (p.Phe96Leu)
NM_000245.4(MET):c.2890C>G (p.Leu964Val)
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.2893G>C (p.Gly965Arg)
NM_000245.4(MET):c.2896A>C (p.Ser966Arg)
NM_000245.4(MET):c.2896A>G (p.Ser966Gly)
NM_000245.4(MET):c.2905G>T (p.Val969Phe) rs757925979
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
NM_000245.4(MET):c.2912A>G (p.Tyr971Cys) rs780819058
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.2923G>A (p.Val975Ile)
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.292T>G (p.Cys98Gly)
NM_000245.4(MET):c.2935C>T (p.His979Tyr) rs1584955347
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.2947C>T (p.Leu983Phe)
NM_000245.4(MET):c.2950G>C (p.Val984Leu)
NM_000245.4(MET):c.2956G>T (p.Ala986Ser) rs1794848174
NM_000245.4(MET):c.2957C>T (p.Ala986Val)
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.2960G>C (p.Arg987Pro) rs910937816
NM_000245.4(MET):c.2963G>A (p.Ser988Asn)
NM_000245.4(MET):c.2963G>T (p.Ser988Ile)
NM_000245.4(MET):c.2965G>A (p.Val989Ile) rs1442896663
NM_000245.4(MET):c.2970C>A (p.Ser990Arg)
NM_000245.4(MET):c.2972C>T (p.Pro991Leu)
NM_000245.4(MET):c.2981A>G (p.Glu994Gly)
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.2985G>A (p.Met995Ile)
NM_000245.4(MET):c.298G>A (p.Asp100Asn)
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.2996A>T (p.Glu999Val) rs912927724
NM_000245.4(MET):c.29G>A (p.Gly10Asp) rs919828654
NM_000245.4(MET):c.3010C>T (p.Arg1004Ter)
NM_000245.4(MET):c.3014C>T (p.Ala1005Val)
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser) rs1794851181
NM_000245.4(MET):c.3019T>A (p.Phe1007Ile)
NM_000245.4(MET):c.301T>C (p.Cys101Arg)
NM_000245.4(MET):c.3028G>A (p.Asp1010Asn) rs1794851612
NM_000245.4(MET):c.3029-2A>G rs2117029370
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu) rs1584957663
NM_000245.4(MET):c.3032A>G (p.Gln1011Arg)
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser) rs1794945602
NM_000245.4(MET):c.3037C>A (p.Pro1013Thr)
NM_000245.4(MET):c.3050A>G (p.Gln1017Arg)
NM_000245.4(MET):c.3051G>C (p.Gln1017His) rs2117029691
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser) rs950642030
NM_000245.4(MET):c.3055G>C (p.Gly1019Arg) rs950642030
NM_000245.4(MET):c.3056G>C (p.Gly1019Ala) rs1584957697
NM_000245.4(MET):c.3059C>T (p.Ser1020Leu)
NM_000245.4(MET):c.3062G>A (p.Cys1021Tyr)
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.3070G>A (p.Val1024Met) rs1584957724
NM_000245.4(MET):c.3071T>C (p.Val1024Ala) rs2117030004
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala) rs373419003
NM_000245.4(MET):c.307A>G (p.Ser103Gly)
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.3095C>G (p.Ser1032Cys)
NM_000245.4(MET):c.3097C>T (p.Pro1033Ser)
NM_000245.4(MET):c.3100A>G (p.Ile1034Val) rs993773653
NM_000245.4(MET):c.3106A>G (p.Thr1036Ala)
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn) rs777748634
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.3119C>G (p.Ser1040Cys)
NM_000245.4(MET):c.3121G>A (p.Asp1041Asn)
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.3130A>T (p.Ser1044Cys) rs1357266763
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
NM_000245.4(MET):c.313G>A (p.Ala105Thr)
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro) rs1794950215
NM_000245.4(MET):c.3146A>G (p.Asn1049Ser)
NM_000245.4(MET):c.3147del (p.Asn1049fs)
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.3151G>A (p.Val1051Ile) rs775997318
NM_000245.4(MET):c.3155A>C (p.His1052Pro)
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>T (p.Asp1054Tyr)
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile) rs1060503534
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
NM_000245.4(MET):c.3176A>T (p.Asn1059Ile)
NM_000245.4(MET):c.317A>G (p.Asn106Ser)
NM_000245.4(MET):c.3187G>A (p.Val1063Ile)
NM_000245.4(MET):c.318T>G (p.Asn106Lys)
NM_000245.4(MET):c.3191A>G (p.Gln1064Arg)
NM_000245.4(MET):c.3193G>T (p.Ala1065Ser)
NM_000245.4(MET):c.31A>G (p.Ile11Val) rs1584875601
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
NM_000245.4(MET):c.3204T>G (p.His1068Gln) rs1397743069
NM_000245.4(MET):c.3208G>T (p.Val1070Leu) rs760285693
NM_000245.4(MET):c.3215G>T (p.Gly1072Val) rs1584957937
NM_000245.4(MET):c.321A>T (p.Leu107Phe) rs1040920548
NM_000245.4(MET):c.322T>A (p.Ser108Thr)
NM_000245.4(MET):c.3231T>G (p.Ile1077Met) rs1251215478
NM_000245.4(MET):c.3232G>C (p.Val1078Leu)
NM_000245.4(MET):c.3232G>T (p.Val1078Leu)
NM_000245.4(MET):c.3235C>A (p.His1079Asn)
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.3251T>A (p.Ile1084Lys)
NM_000245.4(MET):c.3251T>C (p.Ile1084Thr)
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu) rs1562931818
NM_000245.4(MET):c.3257G>A (p.Arg1086Lys) rs2117032447
NM_000245.4(MET):c.3259+12C>G
NM_000245.4(MET):c.3260-2A>G
NM_000245.4(MET):c.3260G>A (p.Gly1087Glu)
NM_000245.4(MET):c.3266T>C (p.Phe1089Ser)
NM_000245.4(MET):c.3269G>C (p.Gly1090Ala)
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg) rs751556706
NM_000245.4(MET):c.3272G>A (p.Cys1091Tyr)
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.3287C>G (p.Thr1096Ser) rs45592846
NM_000245.4(MET):c.3293T>C (p.Leu1098Ser)
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser) rs1795029901
NM_000245.4(MET):c.3300T>G (p.Asn1100Lys)
NM_000245.4(MET):c.3301G>C (p.Asp1101His)
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu)
NM_000245.4(MET):c.3308A>G (p.Lys1103Arg)
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
NM_000245.4(MET):c.3317A>G (p.His1106Arg)
NM_000245.4(MET):c.3319T>A (p.Cys1107Ser)
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys) rs1584960002
NM_000245.4(MET):c.3340+2T>C
NM_000245.4(MET):c.3341-4T>C
NM_000245.4(MET):c.3341G>T (p.Arg1114Ile)
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.334T>C (p.Trp112Arg)
NM_000245.4(MET):c.3354A>G (p.Ile1118Met)
NM_000245.4(MET):c.3356_3358del (p.Gly1119del) rs1584961122
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg) rs2117045243
NM_000245.4(MET):c.3376A>G (p.Thr1126Ala)
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
NM_000245.4(MET):c.3385A>G (p.Ile1129Val)
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.3399T>A (p.Asp1133Glu)
NM_000245.4(MET):c.339A>T (p.Lys113Asn)
NM_000245.4(MET):c.3403A>G (p.Ser1135Gly)
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn) rs1795069423
NM_000245.4(MET):c.3408T>A (p.His1136Gln)
NM_000245.4(MET):c.3409C>A (p.Pro1137Thr)
NM_000245.4(MET):c.3418C>T (p.Leu1140Phe) rs1333930330
NM_000245.4(MET):c.341A>G (p.Asp114Gly)
NM_000245.4(MET):c.3424C>A (p.Leu1142Ile)
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln) rs1795070394
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter) rs879254336
NM_000245.4(MET):c.3443G>T (p.Arg1148Leu)
NM_000245.4(MET):c.3446G>C (p.Ser1149Thr) rs1795071435
NM_000245.4(MET):c.3453del (p.Ser1152fs)
NM_000245.4(MET):c.3455C>A (p.Ser1152Tyr)
NM_000245.4(MET):c.3455C>T (p.Ser1152Phe)
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu) rs1795071897
NM_000245.4(MET):c.3466G>A (p.Val1156Ile) rs1584961300
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.3472C>T (p.Pro1158Ser) rs766489685
NM_000245.4(MET):c.3475T>C (p.Tyr1159His) rs2117047603
NM_000245.4(MET):c.3477C>G (p.Tyr1159Ter)
NM_000245.4(MET):c.3478A>G (p.Met1160Val) rs1554399597
NM_000245.4(MET):c.347T>C (p.Ile116Thr)
NM_000245.4(MET):c.3485A>G (p.His1162Arg)
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3492T>G (p.Asp1164Glu)
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter) rs1795073205
NM_000245.4(MET):c.3505A>G (p.Ile1169Val) rs752109953
NM_000245.4(MET):c.3507T>G (p.Ile1169Met)
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu) rs369838973
NM_000245.4(MET):c.3515A>T (p.Glu1172Val)
NM_000245.4(MET):c.3523-3C>T rs763246917
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
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.3533T>C (p.Val1178Ala)
NM_000245.4(MET):c.3539A>G (p.Asp1180Gly)
NM_000245.4(MET):c.3540T>G (p.Asp1180Glu)
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.354G>A (p.Met118Ile) rs1562883374
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
NM_000245.4(MET):c.355G>T (p.Ala119Ser)
NM_000245.4(MET):c.3560A>G (p.Gln1187Arg)
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr) rs1348453406
NM_000245.4(MET):c.3568A>G (p.Lys1190Glu)
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.3595A>C (p.Lys1199Gln)
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.3599T>C (p.Phe1200Ser)
NM_000245.4(MET):c.3601G>C (p.Val1201Leu)
NM_000245.4(MET):c.3604C>G (p.His1202Asp)
NM_000245.4(MET):c.3610G>C (p.Asp1204His)
NM_000245.4(MET):c.3612C>G (p.Asp1204Glu)
NM_000245.4(MET):c.3613T>A (p.Leu1205Met)
NM_000245.4(MET):c.3615G>T (p.Leu1205Phe)
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
NM_000245.4(MET):c.3620C>G (p.Ala1207Gly)
NM_000245.4(MET):c.3632T>C (p.Met1211Thr)
NM_000245.4(MET):c.3633-4G>A rs1477354447
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys) rs1261418076
NM_000245.4(MET):c.3647T>C (p.Phe1216Ser)
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
NM_000245.4(MET):c.3658G>T (p.Val1220Phe)
NM_000245.4(MET):c.3659T>C (p.Val1220Ala) rs1554400274
NM_000245.4(MET):c.365T>G (p.Val122Gly)
NM_000245.4(MET):c.3676G>T (p.Ala1226Ser)
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
NM_000245.4(MET):c.3684C>G (p.Asp1228Glu)
NM_000245.4(MET):c.3688T>G (p.Tyr1230Asp) rs121913247
NM_000245.4(MET):c.3691G>A (p.Asp1231Asn) rs1168862161
NM_000245.4(MET):c.3691G>T (p.Asp1231Tyr)
NM_000245.4(MET):c.3692A>G (p.Asp1231Gly)
NM_000245.4(MET):c.3692A>T (p.Asp1231Val) rs1584965536
NM_000245.4(MET):c.3706A>C (p.Ser1236Arg)
NM_000245.4(MET):c.3709G>A (p.Val1237Ile) rs1031263507
NM_000245.4(MET):c.3714C>A (p.His1238Gln)
NM_000245.4(MET):c.3725G>A (p.Gly1242Asp)
NM_000245.4(MET):c.3725G>T (p.Gly1242Val) rs776086430
NM_000245.4(MET):c.3728C>A (p.Ala1243Glu)
NM_000245.4(MET):c.3731A>C (p.Lys1244Thr) rs121913677
NM_000245.4(MET):c.373T>A (p.Tyr125Asn)
NM_000245.4(MET):c.3743A>G (p.Lys1248Arg)
NM_000245.4(MET):c.3747G>A (p.Trp1249Ter)
NM_000245.4(MET):c.3761G>A (p.Ser1254Asn)
NM_000245.4(MET):c.3766C>G (p.Gln1256Glu)
NM_000245.4(MET):c.3774A>C (p.Gln1258His)
NM_000245.4(MET):c.3776A>G (p.Lys1259Arg)
NM_000245.4(MET):c.3784A>C (p.Thr1262Pro)
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.3798G>A (p.Val1266=)
NM_000245.4(MET):c.3799-3T>C 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>T (p.Val13Leu)
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser) rs727504014
NM_000245.4(MET):c.3811G>C (p.Val1271Leu)
NM_000245.4(MET):c.3811G>T (p.Val1271Leu) rs751186512
NM_000245.4(MET):c.3818T>C (p.Leu1273Pro)
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.3836G>A (p.Arg1279Lys)
NM_000245.4(MET):c.3847C>T (p.Pro1283Ser)
NM_000245.4(MET):c.3853C>G (p.Pro1285Ala)
NM_000245.4(MET):c.3856G>A (p.Asp1286Asn)
NM_000245.4(MET):c.3856_3858delinsAAT (p.Asp1286Asn)
NM_000245.4(MET):c.3858_3859delinsTA (p.Val1287Ile)
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser) rs1584977945
NM_000245.4(MET):c.3866C>T (p.Thr1289Ile) rs1584977952
NM_000245.4(MET):c.386A>C (p.Gln129Pro) rs1791478036
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
NM_000245.4(MET):c.3875T>C (p.Ile1292Thr)
NM_000245.4(MET):c.3876A>G (p.Ile1292Met) rs786204044
NM_000245.4(MET):c.3878C>T (p.Thr1293Ile)
NM_000245.4(MET):c.3881T>C (p.Val1294Ala)
NM_000245.4(MET):c.388C>T (p.Leu130Phe) rs1584876640
NM_000245.4(MET):c.3896G>A (p.Gly1299Glu)
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3907C>A (p.Leu1303Ile) rs1584978029
NM_000245.4(MET):c.3935+5G>A
NM_000245.4(MET):c.3935T>C (p.Leu1312Ser)
NM_000245.4(MET):c.3936-3C>T
NM_000245.4(MET):c.3936-4A>G
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
NM_000245.4(MET):c.3944T>G (p.Val1315Gly)
NM_000245.4(MET):c.3946A>G (p.Met1316Val)
NM_000245.4(MET):c.3948G>A (p.Met1316Ile)
NM_000245.4(MET):c.3948G>T (p.Met1316Ile)
NM_000245.4(MET):c.3955T>C (p.Cys1319Arg)
NM_000245.4(MET):c.3961C>T (p.His1321Tyr) rs1795655626
NM_000245.4(MET):c.3962A>G (p.His1321Arg)
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.396C>G (p.Ser132Arg)
NM_000245.4(MET):c.3971C>T (p.Ala1324Val)
NM_000245.4(MET):c.3977T>C (p.Met1326Thr)
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.3983C>T (p.Pro1328Leu) rs755043272
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>G (p.Phe1330Cys)
NM_000245.4(MET):c.3990T>G (p.Phe1330Leu)
NM_000245.4(MET):c.3992C>T (p.Ser1331Phe)
NM_000245.4(MET):c.3994G>C (p.Glu1332Gln) rs748382550
NM_000245.4(MET):c.4000G>C (p.Val1334Leu)
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp) rs1258671501
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.4015_4017delinsCCA (p.Ala1339Pro)
NM_000245.4(MET):c.4017_4018delinsAG (p.Ile1340Val)
NM_000245.4(MET):c.4018A>C (p.Ile1340Leu)
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4021T>G (p.Phe1341Val)
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys) rs2117111729
NM_000245.4(MET):c.4035T>A (p.Ile1345=)
NM_000245.4(MET):c.4035del (p.Ile1345fs) rs1584978394
NM_000245.4(MET):c.4039G>A (p.Glu1347Lys)
NM_000245.4(MET):c.4046A>G (p.Tyr1349Cys)
NM_000245.4(MET):c.404G>A (p.Ser135Asn) rs1203410917
NM_000245.4(MET):c.4052A>G (p.His1351Arg) rs1490801483
NM_000245.4(MET):c.4055T>C (p.Val1352Ala)
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
NM_000245.4(MET):c.4067A>G (p.Tyr1356Cys)
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter) rs767214353
NM_000245.4(MET):c.4068T>G (p.Tyr1356Ter)
NM_000245.4(MET):c.4081T>C (p.Cys1361Arg)
NM_000245.4(MET):c.4081T>G (p.Cys1361Gly) rs1584978510
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser) rs45578433
NM_000245.4(MET):c.4093T>C (p.Tyr1365His)
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
NM_000245.4(MET):c.4096C>G (p.Pro1366Ala)
NM_000245.4(MET):c.4097C>T (p.Pro1366Leu) rs778084120
NM_000245.4(MET):c.4107G>C (p.Leu1369Phe)
NM_000245.4(MET):c.4111T>A (p.Ser1371Thr)
NM_000245.4(MET):c.4111T>C (p.Ser1371Pro)
NM_000245.4(MET):c.4112C>G (p.Ser1371Ter)
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala) rs1584978594
NM_000245.4(MET):c.4130A>T (p.Asp1377Val)
NM_000245.4(MET):c.4135G>A (p.Val1379Met) rs1554402266
NM_000245.4(MET):c.4135G>C (p.Val1379Leu)
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>G (p.Arg1382Gly) rs200315561
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.4147C>T (p.Pro1383Ser)
NM_000245.4(MET):c.4150G>C (p.Ala1384Pro) rs758486336
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.4163A>T (p.Glu1388Val)
NM_000245.4(MET):c.4166C>T (p.Thr1389Ile)
NM_000245.4(MET):c.4169C>T (p.Ser1390Leu)
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.431A>C (p.His144Pro)
NM_000245.4(MET):c.432T>A (p.His144Gln)
NM_000245.4(MET):c.434T>A (p.Val145Asp)
NM_000245.4(MET):c.434T>C (p.Val145Ala)
NM_000245.4(MET):c.439C>T (p.Pro147Ser) rs2116588845
NM_000245.4(MET):c.447T>A (p.Asn149Lys)
NM_000245.4(MET):c.44T>C (p.Leu15Pro)
NM_000245.4(MET):c.451A>G (p.Thr151Ala) rs2116589147
NM_000245.4(MET):c.459C>A (p.Asp153Glu)
NM_000245.4(MET):c.460A>G (p.Ile154Val)
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.471G>C (p.Glu157Asp) rs1451799154
NM_000245.4(MET):c.472G>T (p.Val158Phe) rs1227091238
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
NM_000245.4(MET):c.480C>G (p.Cys160Trp)
NM_000245.4(MET):c.484T>G (p.Phe162Val)
NM_000245.4(MET):c.491C>T (p.Pro164Leu) rs1562883575
NM_000245.4(MET):c.496A>G (p.Ile166Val)
NM_000245.4(MET):c.496A>T (p.Ile166Leu)
NM_000245.4(MET):c.497T>A (p.Ile166Lys)
NM_000245.4(MET):c.497T>G (p.Ile166Arg) rs773830746
NM_000245.4(MET):c.4A>G (p.Lys2Glu)
NM_000245.4(MET):c.501A>C (p.Glu167Asp) rs1584876986
NM_000245.4(MET):c.506C>G (p.Pro169Arg)
NM_000245.4(MET):c.50C>G (p.Thr17Ser) rs747777018
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
NM_000245.4(MET):c.514T>A (p.Cys172Ser)
NM_000245.4(MET):c.514T>G (p.Cys172Gly)
NM_000245.4(MET):c.520G>C (p.Asp174His)
NM_000245.4(MET):c.524G>C (p.Cys175Ser)
NM_000245.4(MET):c.52T>A (p.Leu18Met)
NM_000245.4(MET):c.530T>C (p.Val177Ala)
NM_000245.4(MET):c.533G>A (p.Ser178Asn)
NM_000245.4(MET):c.536C>A (p.Ala179Asp)
NM_000245.4(MET):c.541G>T (p.Gly181Ter)
NM_000245.4(MET):c.547A>G (p.Lys183Glu)
NM_000245.4(MET):c.54G>T (p.Leu18Phe)
NM_000245.4(MET):c.554T>A (p.Leu185His) rs1791489495
NM_000245.4(MET):c.559T>G (p.Ser187Ala)
NM_000245.4(MET):c.55G>C (p.Val19Leu)
NM_000245.4(MET):c.560C>A (p.Ser187Tyr)
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
NM_000245.4(MET):c.571C>G (p.Arg191Gly) rs530932258
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.589G>A (p.Val197Ile) rs2116592694
NM_000245.4(MET):c.58C>A (p.Gln20Lys)
NM_000245.4(MET):c.596A>G (p.Asn199Ser) rs1342574948
NM_000245.4(MET):c.605A>C (p.Asn202Thr)
NM_000245.4(MET):c.608C>A (p.Ser203Tyr)
NM_000245.4(MET):c.608CTT[1] (p.Ser204del) rs764811491
NM_000245.4(MET):c.625C>A (p.His209Asn)
NM_000245.4(MET):c.625C>G (p.His209Asp)
NM_000245.4(MET):c.627T>G (p.His209Gln)
NM_000245.4(MET):c.628C>A (p.Pro210Thr) rs983457211
NM_000245.4(MET):c.633G>T (p.Leu211Phe)
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.647T>C (p.Val216Ala) rs1396083482
NM_000245.4(MET):c.64A>G (p.Ser22Gly)
NM_000245.4(MET):c.652A>T (p.Arg218Trp)
NM_000245.4(MET):c.665C>A (p.Thr222Lys)
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
NM_000245.4(MET):c.66C>A (p.Ser22Arg) rs773018125
NM_000245.4(MET):c.670G>C (p.Asp224His)
NM_000245.4(MET):c.671A>G (p.Asp224Gly)
NM_000245.4(MET):c.672T>G (p.Asp224Glu)
NM_000245.4(MET):c.680T>G (p.Met227Arg)
NM_000245.4(MET):c.682T>G (p.Phe228Val)
NM_000245.4(MET):c.693C>G (p.Asp231Glu)
NM_000245.4(MET):c.694C>T (p.Gln232Ter)
NM_000245.4(MET):c.698C>G (p.Ser233Cys)
NM_000245.4(MET):c.700T>C (p.Tyr234His)
NM_000245.4(MET):c.703A>G (p.Ile235Val) rs1266863567
NM_000245.4(MET):c.707A>C (p.Asp236Ala)
NM_000245.4(MET):c.716C>A (p.Pro239His)
NM_000245.4(MET):c.716C>G (p.Pro239Arg)
NM_000245.4(MET):c.718G>C (p.Glu240Gln)
NM_000245.4(MET):c.724A>G (p.Arg242Gly) rs904275312
NM_000245.4(MET):c.733T>C (p.Tyr245His)
NM_000245.4(MET):c.734A>G (p.Tyr245Cys)
NM_000245.4(MET):c.737C>T (p.Pro246Leu)
NM_000245.4(MET):c.738del (p.Ile247fs)
NM_000245.4(MET):c.738dup (p.Ile247fs) rs1584877533
NM_000245.4(MET):c.73G>A (p.Glu25Lys)
NM_000245.4(MET):c.742A>G (p.Lys248Glu)
NM_000245.4(MET):c.744G>T (p.Lys248Asn) rs1562884016
NM_000245.4(MET):c.746A>G (p.Tyr249Cys)
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
NM_000245.4(MET):c.766A>G (p.Asn256Asp)
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.773T>C (p.Phe258Ser)
NM_000245.4(MET):c.774del (p.Phe258fs) rs1281772042
NM_000245.4(MET):c.77G>A (p.Cys26Tyr) rs1584875719
NM_000245.4(MET):c.787A>G (p.Thr263Ala)
NM_000245.4(MET):c.788C>G (p.Thr263Arg)
NM_000245.4(MET):c.791T>C (p.Val264Ala)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.79A>G (p.Lys27Glu)
NM_000245.4(MET):c.802A>G (p.Thr268Ala) rs1554378780
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.812C>T (p.Ala271Val)
NM_000245.4(MET):c.816G>C (p.Gln272His) rs1168091854
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.829A>G (p.Arg277Gly)
NM_000245.4(MET):c.832A>G (p.Ile278Val)
NM_000245.4(MET):c.834A>G (p.Ile278Met)
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>C (p.Arg280Thr)
NM_000245.4(MET):c.841T>G (p.Phe281Val) rs1791504987
NM_000245.4(MET):c.843C>G (p.Phe281Leu)
NM_000245.4(MET):c.845G>C (p.Cys282Ser) rs879254343
NM_000245.4(MET):c.847T>C (p.Ser283Pro) rs1791505194
NM_000245.4(MET):c.85G>C (p.Ala29Pro) rs765246117
NM_000245.4(MET):c.862T>A (p.Leu288Met) rs1584877825
NM_000245.4(MET):c.866A>C (p.His289Pro) rs1584877845
NM_000245.4(MET):c.86C>G (p.Ala29Gly)
NM_000245.4(MET):c.871T>C (p.Tyr291His)
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
NM_000245.4(MET):c.880A>C (p.Met294Leu)
NM_000245.4(MET):c.881T>A (p.Met294Lys)
NM_000245.4(MET):c.882G>A (p.Met294Ile)
NM_000245.4(MET):c.884C>T (p.Pro295Leu)
NM_000245.4(MET):c.88C>G (p.Leu30Val)
NM_000245.4(MET):c.890A>G (p.Glu297Gly)
NM_000245.4(MET):c.893G>A (p.Cys298Tyr)
NM_000245.4(MET):c.898C>T (p.Leu300Phe)
NM_000245.4(MET):c.8C>T (p.Ala3Val)
NM_000245.4(MET):c.911G>T (p.Arg304Ile)
NM_000245.4(MET):c.912A>T (p.Arg304Ser)
NM_000245.4(MET):c.916A>C (p.Lys306Gln) rs1032682239
NM_000245.4(MET):c.920G>A (p.Arg307Lys) rs2116600992
NM_000245.4(MET):c.920_921del (p.Arg307fs)
NM_000245.4(MET):c.925A>G (p.Thr309Ala)
NM_000245.4(MET):c.937G>C (p.Val313Leu)
NM_000245.4(MET):c.938T>C (p.Val313Ala) rs1562884246
NM_000245.4(MET):c.943A>C (p.Asn315His)
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
NM_000245.4(MET):c.946A>G (p.Ile316Val)
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.952C>G (p.Gln318Glu)
NM_000245.4(MET):c.953A>G (p.Gln318Arg)
NM_000245.4(MET):c.955G>T (p.Ala319Ser) rs545332056
NM_000245.4(MET):c.962A>C (p.Tyr321Ser)
NM_000245.4(MET):c.962A>G (p.Tyr321Cys)
NM_000245.4(MET):c.970A>C (p.Lys324Gln)
NM_000245.4(MET):c.974C>A (p.Pro325His)
NM_000245.4(MET):c.977G>C (p.Gly326Ala) rs1791511601
NM_000245.4(MET):c.979G>C (p.Ala327Pro)
NM_000245.4(MET):c.983A>T (p.Gln328Leu)
NM_000245.4(MET):c.98C>A (p.Ser33Tyr)
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)

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