ClinVar Miner

List of variants studied for GNE myopathy; Sialuria

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ClinVar version:
Total variants: 731
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.1245C>T (p.Gly415=) rs140784655 0.00059
NM_005476.7(GNE):c.165-18A>G rs374105190 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005476.7(GNE):c.1620T>C (p.Leu540=) rs774849278 0.00012
NM_005476.7(GNE):c.1634-7G>A rs139442869 0.00012
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804 0.00009
NM_005476.7(GNE):c.616+20G>C rs111358992 0.00009
NM_005476.7(GNE):c.983-4C>T rs145450498 0.00009
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_005476.7(GNE):c.1070+5G>A rs374170125 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654 0.00006
NM_005476.7(GNE):c.23G>A (p.Arg8Gln) rs763057654 0.00005
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001128227.3(GNE):c.80G>A (p.Arg27Gln) rs759799606 0.00004
NM_005476.7(GNE):c.-42-18T>C rs1359152687 0.00004
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631 0.00004
NM_005476.7(GNE):c.1129A>G (p.Ile377Val) rs776568062 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1634-13T>C rs375600956 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.305T>C (p.Leu102Pro) rs760704097 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.726A>G (p.Ser242=) rs763368889 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln) rs1180382282 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1434A>G (p.Val478=) rs1473072355 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626 0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1030T>C (p.Leu344=) rs746461207 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.1281+19T>C rs1220093810 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1368T>A (p.Ala456=) rs779157758 0.00002
NM_005476.7(GNE):c.1408G>C (p.Val470Leu) rs749320547 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr) rs369119154 0.00002
NM_005476.7(GNE):c.1674C>T (p.His558=) rs144931111 0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala) rs776760528 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.1816+17C>T rs756465454 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_005476.7(GNE):c.2061C>G (p.Ala687=) rs765296741 0.00002
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600 0.00002
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_005476.7(GNE):c.447C>T (p.Ala149=) rs772851707 0.00002
NM_005476.7(GNE):c.604C>T (p.Arg202Cys) rs756309840 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005476.7(GNE):c.903C>T (p.Ser301=) rs777440792 0.00002
NM_001128227.3(GNE):c.12T>C (p.Tyr4=) rs556904933 0.00001
NM_001128227.3(GNE):c.15T>C (p.Gly5=) rs192260997 0.00001
NM_001128227.3(GNE):c.51+12G>A rs374490097 0.00001
NM_001128227.3(GNE):c.51+18C>A rs1370632267 0.00001
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_005476.7(GNE):c.1008T>C (p.Asp336=) rs762803815 0.00001
NM_005476.7(GNE):c.1017C>A (p.Thr339=) rs769534184 0.00001
NM_005476.7(GNE):c.1081T>C (p.Tyr361His) rs1192630467 0.00001
NM_005476.7(GNE):c.1117T>G (p.Phe373Val) rs794727868 0.00001
NM_005476.7(GNE):c.1131C>T (p.Ile377=) rs764041731 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) rs750404513 0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836 0.00001
NM_005476.7(GNE):c.1287A>G (p.Glu429=) rs377382722 0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser) rs370478702 0.00001
NM_005476.7(GNE):c.1313A>T (p.Asn438Ile) rs772723683 0.00001
NM_005476.7(GNE):c.1317T>C (p.Pro439=) rs773336897 0.00001
NM_005476.7(GNE):c.1325A>G (p.Tyr442Cys) rs1214437751 0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1411+7T>C rs1828696327 0.00001
NM_005476.7(GNE):c.1430G>A (p.Arg477His) rs776109807 0.00001
NM_005476.7(GNE):c.1464A>G (p.Ser488=) rs771209350 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.1633+7G>A rs773608353 0.00001
NM_005476.7(GNE):c.1633+8G>A rs1028353184 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1709T>C (p.Leu570Pro) rs775369694 0.00001
NM_005476.7(GNE):c.1716G>A (p.Val572=) rs1294027346 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 0.00001
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe) rs756926638 0.00001
NM_005476.7(GNE):c.1769A>G (p.Tyr590Cys) rs1363913351 0.00001
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr) rs752286512 0.00001
NM_005476.7(GNE):c.1806G>A (p.Lys602=) rs1248336263 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.1812T>C (p.His604=) rs541458680 0.00001
NM_005476.7(GNE):c.1893G>A (p.Ala631=) rs770928991 0.00001
NM_005476.7(GNE):c.1933+7A>T rs368100600 0.00001
NM_005476.7(GNE):c.1933+8T>C rs768321445 0.00001
NM_005476.7(GNE):c.1998C>T (p.Ile666=) rs932366819 0.00001
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe) rs1258671706 0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe) rs746449874 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2043C>T (p.Asp681=) rs568010488 0.00001
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567 0.00001
NM_005476.7(GNE):c.2071G>A (p.Val691Met) rs763775540 0.00001
NM_005476.7(GNE):c.2073G>T (p.Val691=) rs760445653 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2082G>C (p.Val694=) rs771658438 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005476.7(GNE):c.2119C>T (p.Leu707=) rs750554841 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.2151A>G (p.Thr717=) rs760226053 0.00001
NM_005476.7(GNE):c.240T>C (p.Asp80=) rs780405231 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.39T>C (p.Cys13=) rs776485443 0.00001
NM_005476.7(GNE):c.455A>C (p.Lys152Thr) rs1157107103 0.00001
NM_005476.7(GNE):c.462T>A (p.Ala154=) rs778963689 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_005476.7(GNE):c.471T>C (p.His157=) rs757524235 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.526G>A (p.Asp176Asn) rs774229314 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.565C>T (p.Leu189Phe) rs567208272 0.00001
NM_005476.7(GNE):c.594G>A (p.Met198Ile) rs1587339231 0.00001
NM_005476.7(GNE):c.608T>C (p.Met203Thr) rs767519361 0.00001
NM_005476.7(GNE):c.616+13G>C rs1383533734 0.00001
NM_005476.7(GNE):c.616+18T>C rs906334550 0.00001
NM_005476.7(GNE):c.616+7A>G rs761273110 0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.741C>T (p.Thr247=) rs770081028 0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr) rs375740268 0.00001
NM_005476.7(GNE):c.77C>G (p.Ala26Gly) rs1266233810 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005476.7(GNE):c.945G>A (p.Val315=) rs371362663 0.00001
NM_005476.7(GNE):c.975A>G (p.Arg325=) rs758966843 0.00001
NM_005476.7(GNE):c.999T>C (p.His333=) rs1344485866 0.00001
NC_000009.11:g.(?_36217362)_(36276941_?)dup
NC_000009.11:g.(?_36227225)_(36276941_?)del
NC_000009.11:g.(?_36227235)_(36227465_?)del
NC_000009.11:g.(?_36229008)_(36236991_?)dup
NC_000009.11:g.(?_36229008)_(36249404_?)dup
NC_000009.11:g.(?_36246008)_(36276941_?)del
NC_000009.11:g.(?_36246018)_(36246489_?)del
NC_000009.11:g.(?_36246018)_(36249404_?)dup
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NC_000009.11:g.(?_36276881)_(36277049_?)dup
NC_000009.12:g.(?_36227238)_(36227468_?)dup
NC_000009.12:g.(?_36276884)_(36277052_?)del
NM_001128227.3(GNE):c.18T>C (p.Tyr6=) rs200763627
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
NM_001128227.3(GNE):c.24G>A (p.Gln8=) rs190315029
NM_001128227.3(GNE):c.26G>C (p.Arg9Thr)
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
NM_001128227.3(GNE):c.30G>A (p.Glu10=) rs780649483
NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)
NM_001128227.3(GNE):c.36C>G (p.Cys12Trp) rs2133208588
NM_001128227.3(GNE):c.39T>C (p.Phe13=) rs2133208583
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
NM_001128227.3(GNE):c.50A>T (p.His17Leu) rs2133208557
NM_001128227.3(GNE):c.51+10T>G rs2133208536
NM_001128227.3(GNE):c.51+11C>T
NM_001128227.3(GNE):c.51+12G>C
NM_001128227.3(GNE):c.51+2T>A
NM_001128227.3(GNE):c.51+9T>C rs2133208540
NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer) rs2133126724
NM_001128227.3(GNE):c.57C>G (p.Leu19=) rs1830028025
NM_001128227.3(GNE):c.60T>C (p.Tyr20=) rs2133126743
NM_001128227.3(GNE):c.69C>T (p.Asn23=) rs1158058299
NM_001128227.3(GNE):c.72C>G (p.Leu24=) rs1191809976
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.86A>C (p.Lys29Thr)
NM_001128227.3(GNE):c.88C>A (p.Gln30Lys)
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
NM_001128227.3(GNE):c.91A>G (p.Ile31Val)
NM_005476.7(GNE):c.-42-3C>T rs764657091
NM_005476.7(GNE):c.-42-6T>C
NM_005476.7(GNE):c.1016C>T (p.Thr339Ile)
NM_005476.7(GNE):c.1017C>T (p.Thr339=) rs769534184
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.101C>G (p.Thr34Ser)
NM_005476.7(GNE):c.101C>T (p.Thr34Ile)
NM_005476.7(GNE):c.1020A>C (p.Gln340His) rs747807631
NM_005476.7(GNE):c.1023C>T (p.Asp341=) rs768446059
NM_005476.7(GNE):c.1029A>G (p.Ile343Met) rs1829027391
NM_005476.7(GNE):c.102C>A (p.Thr34=)
NM_005476.7(GNE):c.102C>T (p.Thr34=) rs147290887
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
NM_005476.7(GNE):c.1039C>T (p.Leu347=) rs2133049484
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) rs1829026390
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter) rs1276168825
NM_005476.7(GNE):c.105A>G (p.Glu35=) rs2133126073
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1071-11del
NM_005476.7(GNE):c.1071-2A>C
NM_005476.7(GNE):c.1071-4G>T rs567349676
NM_005476.7(GNE):c.1071-6T>C
NM_005476.7(GNE):c.1075A>C (p.Lys359Gln)
NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)
NM_005476.7(GNE):c.107C>A (p.Pro36His)
NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)
NM_005476.7(GNE):c.1097C>A (p.Ala366Asp) rs1442235130
NM_005476.7(GNE):c.1111T>C (p.Leu371=) rs1305905839
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer) rs2133042191
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
NM_005476.7(GNE):c.111G>A (p.Glu37=)
NM_005476.7(GNE):c.1124A>C (p.Lys375Thr) rs1828924556
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro) rs1554659760
NM_005476.7(GNE):c.1127C>T (p.Ser376Phe)
NM_005476.7(GNE):c.112T>C (p.Phe38Leu)
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
NM_005476.7(GNE):c.1146A>T (p.Pro382=) rs2133041945
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
NM_005476.7(GNE):c.114C>G (p.Phe38Leu) rs921673560
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn) rs1828920194
NM_005476.7(GNE):c.1162T>C (p.Cys388Arg) rs2133041837
NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
NM_005476.7(GNE):c.1200T>C (p.Ile400=) rs1173945551
NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1227C>G (p.Ala409=) rs1828914515
NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1236T>G (p.Val412=) rs1587294795
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr) rs1828910974
NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)
NM_005476.7(GNE):c.1266A>C (p.Ala422=) rs2133041296
NM_005476.7(GNE):c.1269A>T (p.Ile423=) rs1261239311
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.1277T>C (p.Met426Thr)
NM_005476.7(GNE):c.1281+10C>T
NM_005476.7(GNE):c.1281+11T>G
NM_005476.7(GNE):c.1281+11del
NM_005476.7(GNE):c.1281+13C>T
NM_005476.7(GNE):c.1281+15A>G
NM_005476.7(GNE):c.1281+18C>A
NM_005476.7(GNE):c.1281+18C>T
NM_005476.7(GNE):c.1281+8A>G
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1282-14G>A
NM_005476.7(GNE):c.1282-14_1282-12del
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18T>C rs764072134
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG rs778206973
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-19T>C
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGGTTGTGGGGGTTGGGGCCCGGGGGGACTGGGGGACGGGGGGGAGCAATCTCGGGGAACGTCCTCGTACGGGTNNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7C>G
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-9C>G
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser) rs767409392
NM_005476.7(GNE):c.1285G>A (p.Glu429Lys) rs1828703850
NM_005476.7(GNE):c.1302T>C (p.Tyr434=) rs886044498
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1308G>A (p.Gln436=) rs2133024862
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp) rs2133024785
NM_005476.7(GNE):c.1323C>A (p.Thr441=) rs2133024607
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
NM_005476.7(GNE):c.135A>G (p.Val45=) rs2133125932
NM_005476.7(GNE):c.1361T>C (p.Val454Ala) rs2133024315
NM_005476.7(GNE):c.1362G>C (p.Val454=)
NM_005476.7(GNE):c.1365A>G (p.Glu455=) rs2133024264
NM_005476.7(GNE):c.1369G>A (p.Ala457Thr) rs2133024204
NM_005476.7(GNE):c.1377A>C (p.Glu459Asp)
NM_005476.7(GNE):c.1387C>G (p.Leu463Val)
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
NM_005476.7(GNE):c.1411+10_1411+11del rs2133023892
NM_005476.7(GNE):c.1411+13A>G
NM_005476.7(GNE):c.1411+1G>C
NM_005476.7(GNE):c.1411+7T>G
NM_005476.7(GNE):c.1411G>A (p.Gly471Ser) rs2133023974
NM_005476.7(GNE):c.1412-20G>C rs751339818
NM_005476.7(GNE):c.1414A>G (p.Ile472Val)
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1419C>G (p.Ser473=) rs2133022403
NM_005476.7(GNE):c.1426G>A (p.Gly476Ser) rs2133022363
NM_005476.7(GNE):c.1427G>T (p.Gly476Val) rs1828675355
NM_005476.7(GNE):c.1441C>T (p.Arg481Trp)
NM_005476.7(GNE):c.1447G>A (p.Gly483Arg) rs2133022218
NM_005476.7(GNE):c.1460A>G (p.His487Arg)
NM_005476.7(GNE):c.1461T>C (p.His487=)
NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)
NM_005476.7(GNE):c.1467C>T (p.Thr489=) rs1235105944
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) rs1554658955
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
NM_005476.7(GNE):c.1479A>C (p.Gln493His)
NM_005476.7(GNE):c.147C>T (p.His49=) rs974552839
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
NM_005476.7(GNE):c.1500T>A (p.Leu500=) rs2133021961
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
NM_005476.7(GNE):c.1510C>G (p.Leu504Val)
NM_005476.7(GNE):c.1510dup (p.Leu504fs) rs1828669338
NM_005476.7(GNE):c.1520C>T (p.Thr507Ile)
NM_005476.7(GNE):c.1522T>C (p.Leu508=) rs2133021847
NM_005476.7(GNE):c.1532_1533delinsAA (p.Pro511Gln) rs1828666773
NM_005476.7(GNE):c.1534G>T (p.Val512Leu) rs1279384333
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) rs1828665576
NM_005476.7(GNE):c.1563T>C (p.Ala521=) rs2133021324
NM_005476.7(GNE):c.1564G>T (p.Ala522Ser) rs2133021306
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
NM_005476.7(GNE):c.1590A>G (p.Gln530=) rs2133021114
NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)
NM_005476.7(GNE):c.159C>T (p.Asp53=) rs1830018253
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
NM_005476.7(GNE):c.1602G>A (p.Leu534=) rs2133020974
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
NM_005476.7(GNE):c.1614T>A (p.Val538=) rs2133020873
NM_005476.7(GNE):c.162T>C (p.Tyr54=) rs756575824
NM_005476.7(GNE):c.1632A>G (p.Thr544=) rs2133020714
NM_005476.7(GNE):c.1633+10G>A rs1332613836
NM_005476.7(GNE):c.1633+10G>T rs1332613836
NM_005476.7(GNE):c.1633+12A>G
NM_005476.7(GNE):c.1633+12del
NM_005476.7(GNE):c.1633+14G>A rs748208582
NM_005476.7(GNE):c.1633+15G>T
NM_005476.7(GNE):c.1633+17dup
NM_005476.7(GNE):c.1633+6_1633+7del rs764024703
NM_005476.7(GNE):c.1633+7G>C rs773608353
NM_005476.7(GNE):c.1633+8G>C rs1028353184
NM_005476.7(GNE):c.1633G>A (p.Gly545Arg) rs1024068004
NM_005476.7(GNE):c.1634-10C>T
NM_005476.7(GNE):c.1634-11C>T
NM_005476.7(GNE):c.1634-13T>G
NM_005476.7(GNE):c.1634-14A>G
NM_005476.7(GNE):c.1634-16C>T
NM_005476.7(GNE):c.1634-20A>T
NM_005476.7(GNE):c.1634-3T>C rs2133007346
NM_005476.7(GNE):c.1634-4G>C
NM_005476.7(GNE):c.1634-6C>A
NM_005476.7(GNE):c.1634-7G>C rs139442869
NM_005476.7(GNE):c.1638C>A (p.Ile546=) rs147768211
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.164+16T>C
NM_005476.7(GNE):c.164+19C>T
NM_005476.7(GNE):c.164+7T>C
NM_005476.7(GNE):c.164+8G>A rs2133125796
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
NM_005476.7(GNE):c.165-12C>G
NM_005476.7(GNE):c.165-12C>T
NM_005476.7(GNE):c.165-5T>C
NM_005476.7(GNE):c.165-6C>G rs2133114327
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1671C>T (p.Ile557=) rs1587277726
NM_005476.7(GNE):c.1678A>C (p.Ser560Arg)
NM_005476.7(GNE):c.1684T>G (p.Phe562Val)
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1689T>C (p.Cys563=) rs768667610
NM_005476.7(GNE):c.1690del (p.Ala564fs) rs2133007032
NM_005476.7(GNE):c.1692T>G (p.Ala564=) rs1393386221
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala) rs1419793175
NM_005476.7(GNE):c.1708C>G (p.Leu570Val)
NM_005476.7(GNE):c.1717T>A (p.Ser573Thr) rs2133006773
NM_005476.7(GNE):c.171A>G (p.Thr57=)
NM_005476.7(GNE):c.172T>C (p.Tyr58His)
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg) rs1828512489
NM_005476.7(GNE):c.1732G>C (p.Asp578His)
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
NM_005476.7(GNE):c.174_177dup (p.Met60fs) rs2133114222
NM_005476.7(GNE):c.1752T>C (p.His584=) rs1368954364
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
NM_005476.7(GNE):c.1759A>G (p.Ile587Val)
NM_005476.7(GNE):c.175C>A (p.Arg59=)
NM_005476.7(GNE):c.1762G>A (p.Glu588Lys) rs2133006485
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
NM_005476.7(GNE):c.176G>A (p.Arg59Gln) rs1829880006
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del) rs1828507134
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter) rs2133006228
NM_005476.7(GNE):c.1791G>A (p.Gln597=) rs1828506261
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1804A>C (p.Lys602Gln) rs2133006002
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+15C>G
NM_005476.7(GNE):c.1816+18G>A
NM_005476.7(GNE):c.1816+3_1816+6del rs1828502461
NM_005476.7(GNE):c.1816+4G>T
NM_005476.7(GNE):c.1816+5G>A rs2133005844
NM_005476.7(GNE):c.1816+7G>A
NM_005476.7(GNE):c.1816+8T>G
NM_005476.7(GNE):c.1816+9C>A
NM_005476.7(GNE):c.1817-10C>T rs2132997852
NM_005476.7(GNE):c.1817-11_1817-8del rs769454562
NM_005476.7(GNE):c.1817-12C>G
NM_005476.7(GNE):c.1817-12C>T
NM_005476.7(GNE):c.1817-14C>T
NM_005476.7(GNE):c.1817-18C>A
NM_005476.7(GNE):c.1817-2A>G
NM_005476.7(GNE):c.1817-4T>G
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
NM_005476.7(GNE):c.1828T>C (p.Leu610=) rs2132997736
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1831G>A (p.Val611Met) rs2132997717
NM_005476.7(GNE):c.1833G>A (p.Val611=) rs2132997684
NM_005476.7(GNE):c.1839G>A (p.Gly613=) rs2132997665
NM_005476.7(GNE):c.1857T>C (p.Asp619=) rs1587273465
NM_005476.7(GNE):c.185A>C (p.Glu62Ala) rs2133114144
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
NM_005476.7(GNE):c.1878T>C (p.His626=)
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)
NM_005476.7(GNE):c.190G>C (p.Asp64His) rs2133114110
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.1921A>G (p.Ile641Val) rs2132996877
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
NM_005476.7(GNE):c.192T>C (p.Asp64=) rs2133114091
NM_005476.7(GNE):c.1933+11G>C
NM_005476.7(GNE):c.1933+12G>A
NM_005476.7(GNE):c.1933+13C>T
NM_005476.7(GNE):c.1933+19G>A
NM_005476.7(GNE):c.1933+1G>C
NM_005476.7(GNE):c.1933+7A>C rs368100600
NM_005476.7(GNE):c.1933+7A>G rs368100600
NM_005476.7(GNE):c.1933+8_1933+17dup
NM_005476.7(GNE):c.1934-10C>T
NM_005476.7(GNE):c.1934-11T>C
NM_005476.7(GNE):c.1934-11T>G
NM_005476.7(GNE):c.1934-12G>T
NM_005476.7(GNE):c.1934-17T>C
NM_005476.7(GNE):c.1934-4A>G rs2132994193
NM_005476.7(GNE):c.1934-6C>T
NM_005476.7(GNE):c.1934-7C>T rs1387525049
NM_005476.7(GNE):c.1934-8C>T rs2132994218
NM_005476.7(GNE):c.1937G>C (p.Gly646Ala) rs1291163446
NM_005476.7(GNE):c.1938A>T (p.Gly646=)
NM_005476.7(GNE):c.1945T>C (p.Leu649=) rs1045540608
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp) rs1299435942
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
NM_005476.7(GNE):c.1971C>A (p.Leu657=) rs2132993854
NM_005476.7(GNE):c.1973del (p.His658fs)
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser) rs765173992
NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)
NM_005476.7(GNE):c.1989C>A (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1989C>T (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs) rs2132993345
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
NM_005476.7(GNE):c.2025T>C (p.Tyr675=) rs1479027996
NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)
NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)
NM_005476.7(GNE):c.204T>C (p.Ile68=)
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser) rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2051G>A (p.Arg684His)
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
NM_005476.7(GNE):c.2073G>A (p.Val691=) rs760445653
NM_005476.7(GNE):c.2080G>A (p.Val694Met)
NM_005476.7(GNE):c.2085T>C (p.Asp695=) rs2132992452
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.208A>G (p.Thr70Ala)
NM_005476.7(GNE):c.2093T>C (p.Val698Ala) rs1587270856
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.2097G>C (p.Ser699=) rs200490682
NM_005476.7(GNE):c.2105T>A (p.Val702Asp)
NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2127T>C (p.Ala709=) rs1282905700
NM_005476.7(GNE):c.2129C>T (p.Ala710Val)
NM_005476.7(GNE):c.2135del (p.Met712fs)
NM_005476.7(GNE):c.213G>A (p.Arg71=)
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
NM_005476.7(GNE):c.221_222del (p.Thr74fs) rs2133113896
NM_005476.7(GNE):c.225_227del (p.Ile75_Val76delinsMet) rs1156580753
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.243G>A (p.Glu81=)
NM_005476.7(GNE):c.246A>G (p.Ala82=) rs2133113710
NM_005476.7(GNE):c.247G>A (p.Ala83Thr) rs1482972274
NM_005476.7(GNE):c.253G>A (p.Val85Met)
NM_005476.7(GNE):c.255G>A (p.Val85=) rs2133113626
NM_005476.7(GNE):c.257A>C (p.Glu86Ala) rs2133113605
NM_005476.7(GNE):c.265G>A (p.Gly89Ser) rs1829875828
NM_005476.7(GNE):c.267C>G (p.Gly89=)
NM_005476.7(GNE):c.267C>T (p.Gly89=)
NM_005476.7(GNE):c.276A>C (p.Leu92=)
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.29T>C (p.Leu10Pro) rs1830024227
NM_005476.7(GNE):c.303C>G (p.Arg101=)
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.323T>C (p.Ile108Thr) rs2133113113
NM_005476.7(GNE):c.325G>A (p.Val109Ile) rs2133113097
NM_005476.7(GNE):c.329A>G (p.His110Arg) rs886043739
NM_005476.7(GNE):c.330T>C (p.His110=) rs2133113028
NM_005476.7(GNE):c.348C>T (p.Ala116=)
NM_005476.7(GNE):c.350T>C (p.Leu117Pro)
NM_005476.7(GNE):c.363A>G (p.Thr121=)
NM_005476.7(GNE):c.366T>C (p.Ser122=) rs1421322802
NM_005476.7(GNE):c.385C>G (p.Arg129Gly)
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.417T>C (p.Ser139=)
NM_005476.7(GNE):c.420G>A (p.Gly140=) rs2133112706
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.428A>G (p.Asp143Gly)
NM_005476.7(GNE):c.432C>T (p.Asp144=) rs2133112638
NM_005476.7(GNE):c.436A>G (p.Ile146Val) rs2133112591
NM_005476.7(GNE):c.43G>A (p.Ala15Thr) rs2133126317
NM_005476.7(GNE):c.441A>G (p.Arg147=)
NM_005476.7(GNE):c.443A>G (p.His148Arg)
NM_005476.7(GNE):c.444T>C (p.His148=)
NM_005476.7(GNE):c.454_616+70delinsTAG rs2133111012
NM_005476.7(GNE):c.467A>G (p.Tyr156Cys) rs2133112366
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749
NM_005476.7(GNE):c.46A>G (p.Thr16Ala)
NM_005476.7(GNE):c.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.474G>A (p.Val158=)
NM_005476.7(GNE):c.474G>C (p.Val158=) rs753803897
NM_005476.7(GNE):c.480C>T (p.Cys160=) rs1360990295
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.489T>C (p.Ser163=)
NM_005476.7(GNE):c.495G>A (p.Glu165=) rs2133112122
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.501C>A (p.His167Gln) rs1554663342
NM_005476.7(GNE):c.512T>C (p.Met171Thr)
NM_005476.7(GNE):c.538T>C (p.Leu180=) rs2133111925
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
NM_005476.7(GNE):c.548G>C (p.Cys183Ser)
NM_005476.7(GNE):c.549C>T (p.Cys183=)
NM_005476.7(GNE):c.54C>T (p.Asn18=) rs1406781067
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
NM_005476.7(GNE):c.586G>C (p.Asp196His) rs2133111701
NM_005476.7(GNE):c.588C>T (p.Asp196=)
NM_005476.7(GNE):c.591C>T (p.Tyr197=) rs2133111680
NM_005476.7(GNE):c.597C>A (p.Ser199Arg)
NM_005476.7(GNE):c.597C>T (p.Ser199=)
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs886042120
NM_005476.7(GNE):c.602T>A (p.Ile201Asn) rs1829857314
NM_005476.7(GNE):c.605G>A (p.Arg202His)
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.616+15C>A rs1002961152
NM_005476.7(GNE):c.616+4C>T
NM_005476.7(GNE):c.616+5G>A
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.617-13T>C rs1266835565
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
NM_005476.7(GNE):c.623A>C (p.Asp208Ala)
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.63T>C (p.Asp21=)
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
NM_005476.7(GNE):c.648T>G (p.Val216=) rs375728173
NM_005476.7(GNE):c.654A>G (p.Leu218=)
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.660C>T (p.His220=) rs2133078408
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.681G>A (p.Lys227=) rs201894560
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.695T>C (p.Met232Thr) rs761468890
NM_005476.7(GNE):c.709T>C (p.Leu237=) rs2133078170
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_005476.7(GNE):c.712del (p.Asp238fs)
NM_005476.7(GNE):c.721A>C (p.Ile241Leu) rs763729254
NM_005476.7(GNE):c.723C>T (p.Ile241=)
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
NM_005476.7(GNE):c.737G>T (p.Arg246Leu) rs121908629
NM_005476.7(GNE):c.73C>T (p.Leu25Phe) rs373398528
NM_005476.7(GNE):c.749T>A (p.Leu250Gln)
NM_005476.7(GNE):c.750G>A (p.Leu250=)
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.759T>C (p.Asn253=)
NM_005476.7(GNE):c.769+10C>T
NM_005476.7(GNE):c.769+19G>A
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.769+7G>A rs2133077826
NM_005476.7(GNE):c.76_77delinsTT (p.Ala26Phe)
NM_005476.7(GNE):c.770-20G>A
NM_005476.7(GNE):c.770-20G>T
NM_005476.7(GNE):c.770-8_770-3del
NM_005476.7(GNE):c.780G>A (p.Glu260=)
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)
NM_005476.7(GNE):c.78C>G (p.Ala26=)
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005476.7(GNE):c.795G>T (p.Met265Ile) rs1829295633
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.7(GNE):c.798G>A (p.Arg266=) rs2133068760
NM_005476.7(GNE):c.798del (p.Lys267fs)
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.807C>T (p.Gly269=)
NM_005476.7(GNE):c.81G>A (p.Pro27=) rs768397785
NM_005476.7(GNE):c.830G>A (p.Arg277His)
NM_005476.7(GNE):c.831T>C (p.Arg277=) rs1367695782
NM_005476.7(GNE):c.840A>G (p.Lys280=)
NM_005476.7(GNE):c.844G>A (p.Val282Ile)
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.85A>G (p.Met29Val) rs1830021401
NM_005476.7(GNE):c.862A>G (p.Ile288Val)
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
NM_005476.7(GNE):c.879T>C (p.His293=)
NM_005476.7(GNE):c.884G>C (p.Gly295Ala)
NM_005476.7(GNE):c.884G>T (p.Gly295Val)
NM_005476.7(GNE):c.887G>A (p.Cys296Tyr)
NM_005476.7(GNE):c.894T>C (p.Ile298=) rs1277539567
NM_005476.7(GNE):c.934G>A (p.Gly312Arg)
NM_005476.7(GNE):c.942T>C (p.Pro314=) rs2133068079
NM_005476.7(GNE):c.951C>T (p.Asn317=) rs1456510873
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.952_953del (p.Leu318fs) rs2133068002
NM_005476.7(GNE):c.965A>G (p.Gln322Arg) rs2133067920
NM_005476.7(GNE):c.976G>A (p.Glu326Lys) rs2133067896
NM_005476.7(GNE):c.982+13G>C
NM_005476.7(GNE):c.982+17A>G
NM_005476.7(GNE):c.982+19A>C
NM_005476.7(GNE):c.982+2T>A rs2133067872
NM_005476.7(GNE):c.982+6T>C rs2133067848
NM_005476.7(GNE):c.982+9C>T rs1829282969
NM_005476.7(GNE):c.983-16C>T
NM_005476.7(GNE):c.983-7T>C
NM_005476.7(GNE):c.983-8T>G
NM_005476.7(GNE):c.984G>A (p.Gly328=) rs2133049807
NM_005476.7(GNE):c.987G>A (p.Glu329=) rs2133049764
NM_005476.7(GNE):c.994C>A (p.Leu332Ile) rs2133049738
NM_005476.7(GNE):c.997dup (p.His333fs) rs2133049724
NM_005476.7(GNE):c.9G>A (p.Lys3=) rs2133126488

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