ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease, type II by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 669
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480 0.00024
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00019
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000152.5(GAA):c.546+3G>A rs371405931 0.00013
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874 0.00012
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273 0.00011
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979 0.00010
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476 0.00010
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907 0.00009
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944 0.00006
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00005
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374 0.00005
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn) rs372604133 0.00005
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520 0.00004
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) rs371971763 0.00004
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016 0.00004
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896 0.00004
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613 0.00003
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976 0.00003
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) rs772260861 0.00003
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350 0.00003
NM_000152.5(GAA):c.292A>T (p.Ile98Phe) rs745963730 0.00003
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405 0.00003
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys) rs200509552 0.00003
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys) rs749186162 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889 0.00002
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545 0.00002
NM_000152.5(GAA):c.1437+6G>A rs754249803 0.00002
NM_000152.5(GAA):c.1544T>C (p.Met515Thr) rs1338245575 0.00002
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) rs770029932 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) rs1365945556 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) rs749496973 0.00002
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294 0.00002
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347 0.00002
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511 0.00002
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608 0.00002
NM_000152.5(GAA):c.899C>T (p.Ala300Val) rs1032949450 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000152.5(GAA):c.979G>A (p.Ala327Thr) rs756562462 0.00002
NM_000152.5(GAA):c.-32-3C>T rs1055945806 0.00001
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) rs1334402365 0.00001
NM_000152.5(GAA):c.1059G>C (p.Gln353His) rs376146090 0.00001
NM_000152.5(GAA):c.1075+4G>A rs754290055 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.1171A>G (p.Met391Val) rs778634337 0.00001
NM_000152.5(GAA):c.1184A>T (p.His395Leu) rs775121651 0.00001
NM_000152.5(GAA):c.1195-8G>A rs1194778188 0.00001
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868 0.00001
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496 0.00001
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp) rs777372252 0.00001
NM_000152.5(GAA):c.1319T>C (p.Met440Thr) rs768847441 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) rs769574574 0.00001
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala) rs1418481698 0.00001
NM_000152.5(GAA):c.151G>A (p.Glu51Lys) rs2039030436 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro) rs1283351706 0.00001
NM_000152.5(GAA):c.1669A>G (p.Ile557Val) rs747150965 0.00001
NM_000152.5(GAA):c.1755-3C>T rs748327755 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00001
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg) rs1387345310 0.00001
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) rs2039267331 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) rs746961289 0.00001
NM_000152.5(GAA):c.1889-7C>G rs765713320 0.00001
NM_000152.5(GAA):c.1989G>T (p.Gln663His) rs1189531783 0.00001
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117 0.00001
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) rs752507985 0.00001
NM_000152.5(GAA):c.2012T>C (p.Met671Thr) rs398123170 0.00001
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg) rs779338215 0.00001
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) rs755618776 0.00001
NM_000152.5(GAA):c.214C>A (p.Pro72Thr) rs923068950 0.00001
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2218G>T (p.Val740Leu) rs752122499 0.00001
NM_000152.5(GAA):c.221G>A (p.Arg74His) rs764797280 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) rs201980859 0.00001
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304 0.00001
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156 0.00001
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr) rs1464282302 0.00001
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978 0.00001
NM_000152.5(GAA):c.260A>G (p.Asn87Ser) rs117530672 0.00001
NM_000152.5(GAA):c.2651C>T (p.Thr884Met) rs759144318 0.00001
NM_000152.5(GAA):c.2735C>T (p.Ala912Val) rs778874712 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189 0.00001
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809 0.00001
NM_000152.5(GAA):c.298C>A (p.Gln100Lys) rs780027584 0.00001
NM_000152.5(GAA):c.314C>T (p.Ala105Val) rs761409404 0.00001
NM_000152.5(GAA):c.328T>C (p.Tyr110His) rs761311330 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.364A>G (p.Met122Val) rs2039040448 0.00001
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) rs765586839 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.472A>G (p.Thr158Ala) rs1598570556 0.00001
NM_000152.5(GAA):c.488A>T (p.Asp163Val) rs755903462 0.00001
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831 0.00001
NM_000152.5(GAA):c.503G>T (p.Arg168Leu) rs376685205 0.00001
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.530A>C (p.Asn177Thr) rs936395356 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.539A>G (p.His180Arg) rs773474041 0.00001
NM_000152.5(GAA):c.549C>G (p.Ile183Met) rs778132082 0.00001
NM_000152.5(GAA):c.560C>G (p.Ala187Gly) rs749876645 0.00001
NM_000152.5(GAA):c.574G>A (p.Glu192Lys) rs1407372901 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274 0.00001
NM_000152.5(GAA):c.608G>A (p.Arg203Gln) rs754446365 0.00001
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379 0.00001
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790 0.00001
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890 0.00001
NM_000152.5(GAA):c.706G>T (p.Val236Leu) rs777964427 0.00001
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763 0.00001
NM_000152.5(GAA):c.723T>G (p.Phe241Leu) rs1160112655 0.00001
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298 0.00001
NM_000152.5(GAA):c.74C>T (p.Ala25Val) rs768867363 0.00001
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671 0.00001
NM_000152.5(GAA):c.764A>G (p.Gln255Arg) rs1405975877 0.00001
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000152.5(GAA):c.804G>A (p.Met268Ile) rs1185610552 0.00001
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720 0.00001
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384 0.00001
NM_000152.5(GAA):c.955+5G>C rs759508507 0.00001
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289 0.00001
NM_000152.5(GAA):c.995C>T (p.Ser332Leu) rs757608620 0.00001
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78090747)_(78110154_?)dup
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NM_000152.5(GAA):c.-32-13T>C rs386834236
NM_000152.5(GAA):c.-32-3del
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser) rs2039144354
NM_000152.5(GAA):c.1049T>C (p.Val350Ala) rs2039144934
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) rs754449703
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) rs754449703
NM_000152.5(GAA):c.1075+5G>A
NM_000152.5(GAA):c.1076-11T>C
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser) rs2143854757
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) rs2039150286
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys) rs752002666
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe) rs377233099
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr) rs1193750279
NM_000152.5(GAA):c.1158G>T (p.Gln386His) rs1400466814
NM_000152.5(GAA):c.115C>A (p.Pro39Thr) rs759236536
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
NM_000152.5(GAA):c.1173G>A (p.Met391Ile) rs2143855905
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr) rs190889375
NM_000152.5(GAA):c.1184A>G (p.His395Arg) rs775121651
NM_000152.5(GAA):c.118C>G (p.Arg40Gly) rs767409395
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1194+3G>T rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro) rs2039157992
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup) rs2143857460
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg) rs2039159106
NM_000152.5(GAA):c.1254G>A (p.Lys418=) rs769131433
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly) rs1397577545
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr) rs1283810246
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr) rs2143857881
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
NM_000152.5(GAA):c.1317G>A (p.Met439Ile) rs991245388
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
NM_000152.5(GAA):c.1326+6T>C rs1199225255
NM_000152.5(GAA):c.1326G>A (p.Val442=)
NM_000152.5(GAA):c.1327-7T>G rs774490566
NM_000152.5(GAA):c.133T>G (p.Ser45Ala) rs1322709296
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
NM_000152.5(GAA):c.134C>T (p.Ser45Phe) rs1179395024
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu) rs2039191662
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu) rs2039191855
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr) rs535644999
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp) rs1277491722
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp) rs2039193001
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu) rs886043148
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) rs886043068
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1438-10C>G rs1029231930
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile) rs2143872073
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr) rs1283045273
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) rs2039213698
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu) rs2143872278
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly) rs2143872652
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu) rs1464913441
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
NM_000152.5(GAA):c.1551+4A>C
NM_000152.5(GAA):c.1551+6T>C
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-3C>T rs375470378
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn) rs2039221468
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser) rs1555600852
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) rs2039222579
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys) rs1417304813
NM_000152.5(GAA):c.1576A>G (p.Ile526Val) rs2039222806
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys) rs773576381
NM_000152.5(GAA):c.159C>A (p.His53Gln)
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys) rs1351247900
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp) rs2039224225
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys) rs2039224372
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser) rs2039224662
NM_000152.5(GAA):c.161C>T (p.Pro54Leu) rs768898668
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys) rs1160583761
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
NM_000152.5(GAA):c.1637-10_1637-9delinsGA rs2143882002
NM_000152.5(GAA):c.1637-12_1637-9del
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.166C>A (p.His56Asn)
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) rs576056187
NM_000152.5(GAA):c.167A>T (p.His56Leu) rs113740017
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro) rs543222774
NM_000152.5(GAA):c.16C>T (p.Pro6Ser) rs1424116613
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
NM_000152.5(GAA):c.1715A>C (p.His572Pro) rs1424756308
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) rs1175728529
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.1739C>T (p.Ala580Val) rs909561836
NM_000152.5(GAA):c.1741A>G (p.Ile581Val) rs559258217
NM_000152.5(GAA):c.1743C>G (p.Ile581Met) rs527970795
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) rs369098202
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1762G>A (p.Val588Met) rs370138790
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) rs2039262568
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
NM_000152.5(GAA):c.1817A>C (p.His606Pro) rs1311698018
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe) rs2039264297
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu) rs2143889579
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe) rs764377962
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser) rs757445420
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro) rs1235035841
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
NM_000152.5(GAA):c.1888+5G>C
NM_000152.5(GAA):c.1888+6_1888+14del rs2039268703
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro) rs2039274878
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
NM_000152.5(GAA):c.1926C>A (p.Val642=) rs1346499760
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp) rs939350425
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) rs1269689890
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly) rs2039278476
NM_000152.5(GAA):c.1975G>C (p.Val659Leu) rs2143892513
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile) rs2039278795
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) rs1598585837
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly) rs1567835990
NM_000152.5(GAA):c.2040+19_2040+20inv
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser) rs2039286160
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys) rs2039287681
NM_000152.5(GAA):c.2084T>C (p.Met695Thr) rs2143895805
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile) rs2039288481
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu) rs139009731
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.2124C>G (p.His708Gln) rs751187069
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr) rs1393059819
NM_000152.5(GAA):c.217G>T (p.Gly73Cys) rs760644219
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr) rs1377188867
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) rs778981088
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys) rs1057516363
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg) rs768165130
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn) rs2143919634
NM_000152.5(GAA):c.2294G>T (p.Gly765Val) rs1292367136
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+4A>C rs2039371081
NM_000152.5(GAA):c.2331+6T>G
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
NM_000152.5(GAA):c.2345C>T (p.Ala782Val) rs994916972
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe) rs762310752
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
NM_000152.5(GAA):c.235C>T (p.Pro79Ser) rs756342288
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) rs2039384789
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln) rs773629231
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro) rs200505871
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg) rs2143925115
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser) rs774470696
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr) rs1365945556
NM_000152.5(GAA):c.244T>C (p.Cys82Arg) rs1252748852
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu) rs886042703
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg) rs1555602967
NM_000152.5(GAA):c.2481+4C>G
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg) rs778187006
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala) rs930247743
NM_000152.5(GAA):c.2522T>C (p.Met841Thr) rs758016479
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.5(GAA):c.2525C>T (p.Ala842Val) rs2143929732
NM_000152.5(GAA):c.2527C>G (p.Leu843Val) rs2143929760
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) rs775524898
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) rs1555603096
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu) rs764943318
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly) rs2039404008
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys) rs1039438307
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.259A>C (p.Asn87His)
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) rs1052555748
NM_000152.5(GAA):c.2637G>A (p.Leu879=) rs2039406388
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
NM_000152.5(GAA):c.2646+3G>A
NM_000152.5(GAA):c.2646+4A>C
NM_000152.5(GAA):c.2646+4A>G
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
NM_000152.5(GAA):c.268T>A (p.Phe90Ile) rs755402236
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
NM_000152.5(GAA):c.26C>T (p.Ser9Phe) rs1598568879
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr) rs1800299
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys) rs2039415739
NM_000152.5(GAA):c.2723G>T (p.Gly908Val) rs2143933949
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
NM_000152.5(GAA):c.2745G>C (p.Gln915His) rs2143934282
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) rs756199247
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2799+4A>T
NM_000152.5(GAA):c.2800-1G>A
NM_000152.5(GAA):c.2829G>A (p.Met943Ile) rs2039430526
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
NM_000152.5(GAA):c.289G>A (p.Ala97Thr) rs2143827017
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
NM_000152.5(GAA):c.29A>T (p.His10Leu)
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) rs201902338
NM_000152.5(GAA):c.311_313del (p.Glu104del) rs2039038181
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup) rs2143827403
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.32G>T (p.Arg11Leu) rs138812846
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
NM_000152.5(GAA):c.347G>A (p.Gly116Glu) rs754285414
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.368G>T (p.Gly123Val) rs138034915
NM_000152.5(GAA):c.383T>C (p.Phe128Ser) rs2039041547
NM_000152.5(GAA):c.396C>G (p.Ser132Arg) rs2143828304
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
NM_000152.5(GAA):c.41C>T (p.Ala14Val) rs1221096819
NM_000152.5(GAA):c.427T>G (p.Ser143Ala) rs1423110429
NM_000152.5(GAA):c.433G>A (p.Glu145Lys) rs2143828679
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.466A>T (p.Thr156Ser) rs1598570529
NM_000152.5(GAA):c.467C>A (p.Thr156Asn) rs1394741472
NM_000152.5(GAA):c.467C>T (p.Thr156Ile) rs1394741472
NM_000152.5(GAA):c.482C>A (p.Pro161His)
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
NM_000152.5(GAA):c.49G>T (p.Ala17Ser) rs751425831
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.546+5G>A
NM_000152.5(GAA):c.547-5_547-4delinsGG
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp) rs149295512
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
NM_000152.5(GAA):c.583T>G (p.Leu195Val) rs1323831512
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
NM_000152.5(GAA):c.590C>A (p.Thr197Asn) rs761890037
NM_000152.5(GAA):c.590C>T (p.Thr197Ile) rs761890037
NM_000152.5(GAA):c.593C>A (p.Pro198Gln) rs765075888
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
NM_000152.5(GAA):c.596A>T (p.His199Leu)
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) rs1245992455
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) rs2039071572
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr) rs2143834814
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile) rs2039027538
NM_000152.5(GAA):c.693-5C>G rs763538104
NM_000152.5(GAA):c.703A>G (p.Thr235Ala) rs781731240
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) rs1294294268
NM_000152.5(GAA):c.716T>C (p.Leu239Pro) rs2143845990
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) rs2143846362
NM_000152.5(GAA):c.769A>G (p.Ile257Val) rs199674786
NM_000152.5(GAA):c.775G>A (p.Gly259Ser) rs2143846660
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>C (p.Ala261Pro) rs543360994
NM_000152.5(GAA):c.782C>T (p.Ala261Val) rs2143846719
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.809G>A (p.Ser270Asn) rs1429834723
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.840_842dup (p.Arg281dup) rs2039123030
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+5A>G rs2039124887
NM_000152.5(GAA):c.859-10C>T rs2143848802
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859-8T>G rs2143848824
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.883C>T (p.His295Tyr) rs751639773
NM_000152.5(GAA):c.899C>A (p.Ala300Glu) rs1032949450
NM_000152.5(GAA):c.8T>C (p.Val3Ala) rs1037603957
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.928G>A (p.Val310Met)
NM_000152.5(GAA):c.928G>T (p.Val310Leu) rs941586376
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.954G>A (p.Met318Ile) rs2143850104
NM_000152.5(GAA):c.955+5G>A rs759508507
NM_000152.5(GAA):c.955G>A (p.Asp319Asn) rs1359009455
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000152.5(GAA):c.956-8C>A rs369149976
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
NM_000152.5(GAA):c.960G>A (p.Val320=) rs2143852588
NM_000152.5(GAA):c.961G>A (p.Val321Ile) rs895612400
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
NM_000152.5(GAA):c.974G>A (p.Ser325Asn) rs905633601
NM_000152.5(GAA):c.976C>T (p.Pro326Ser) rs2039142344
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.98A>G (p.His33Arg) rs773479616

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