ClinVar Miner

List of variants in gene GAA reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000152.5(GAA):c.2331+84C>G rs185905012 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
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.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429 0.00021
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00019
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000152.5(GAA):c.546+3G>A rs371405931 0.00013
NM_000152.5(GAA):c.*2C>T rs761162129 0.00012
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 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.1920T>G (p.Pro640=) rs144090460 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.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.2041-4G>T rs775757700 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
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.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000152.5(GAA):c.693-5C>T rs763538104 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 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.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000152.5(GAA):c.2481+128A>G rs760656694 0.00005
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519 0.00005
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374 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.510C>T (p.Asp170=) rs564758226 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.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 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.2671C>T (p.Arg891Cys) rs377249041 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.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988 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.18G>C (p.Pro6=) rs774703637 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.2057G>A (p.Ser686Asn) rs1355454728 0.00003
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541 0.00003
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 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.1560C>T (p.Asn520=) rs116322271 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.216C>T (p.Pro72=) rs753287841 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.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.2690C>G (p.Ala897Gly) rs781520538 0.00002
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) rs749496973 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 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.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537 0.00002
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) rs1334402365 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199 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.1123C>T (p.Arg375Cys) rs372486238 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.1192C>T (p.Leu398=) rs369707231 0.00001
NM_000152.5(GAA):c.1195-4G>T rs886042626 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.1274C>T (p.Pro425Leu) rs765235868 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) rs769574574 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 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.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) rs2039267331 0.00001
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036 0.00001
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) rs746961289 0.00001
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 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.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) rs201980859 0.00001
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117 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.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.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422 0.00001
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626 0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.468C>T (p.Thr156=) rs145849611 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.532C>T (p.Arg178Cys) rs762439362 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.568C>T (p.Arg190Cys) rs771258854 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.615G>A (p.Pro205=) rs141427808 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.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890 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.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868 0.00001
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NM_000152.5(GAA):c.955+5_955+6del rs1567829535 0.00001
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587 0.00001
NM_000152.5(GAA):c.*187_*203delinsGGG
NM_000152.5(GAA):c.-32-5C>G rs775682001
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys) rs886042960
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) rs754449703
NM_000152.5(GAA):c.1076-10T>A
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1109G>A (p.Gly370Asp)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) rs2039150286
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.1158G>T (p.Gln386His) rs1400466814
NM_000152.5(GAA):c.116C>T (p.Pro39Leu) rs1567825457
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1211A>T (p.Asp404Val) rs886042961
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.5(GAA):c.1244C>T (p.Thr415Met)
NM_000152.5(GAA):c.1252A>G (p.Lys418Glu)
NM_000152.5(GAA):c.1257_1289del (p.Asp419_Gln429del) rs1567830839
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1304G>T (p.Gly435Val)
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1369C>A (p.Pro457Thr) rs2143866086
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1377C>G (p.Asp459Glu) rs778121058
NM_000152.5(GAA):c.1379A>G (p.Glu460Gly)
NM_000152.5(GAA):c.1381G>A (p.Gly461Ser) rs1567832058
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1418G>A (p.Gly473Asp) rs886043976
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+3A>G rs2143867314
NM_000152.5(GAA):c.1438-15_1438-1del rs1567832762
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) rs2039213698
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
NM_000152.5(GAA):c.1510G>A (p.Ala504Thr) rs2143872747
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) rs2039222579
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr)
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys) rs1417304813
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.158A>G (p.His53Arg)
NM_000152.5(GAA):c.1637-40G>A
NM_000152.5(GAA):c.1637G>T (p.Gly546Val) rs886043918
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1643T>G (p.Val548Gly)
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1706A>G (p.Tyr569Cys)
NM_000152.5(GAA):c.1712T>C (p.Leu571Pro) rs886042498
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) rs369098202
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) rs2039262568
NM_000152.5(GAA):c.1817A>C (p.His606Pro) rs1311698018
NM_000152.5(GAA):c.1835A>C (p.His612Pro) rs760546238
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1930G>C (p.Ala644Pro) rs752735168
NM_000152.5(GAA):c.1931C>A (p.Ala644Asp)
NM_000152.5(GAA):c.193C>T (p.Pro65Ser) rs1598569443
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1947C>T (p.Phe649=) rs770248553
NM_000152.5(GAA):c.1960T>G (p.Ser654Ala)
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) rs1269689890
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) rs2039279293
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) rs1598585837
NM_000152.5(GAA):c.2020C>T (p.His674Tyr)
NM_000152.5(GAA):c.2040+7T>G rs1555601667
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2052G>C (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2093C>A (p.Ala698Asp)
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2095C>T (p.Leu699Phe)
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2189+4A>G
NM_000152.5(GAA):c.2189+614T>C
NM_000152.5(GAA):c.2200G>A (p.Asp734Asn)
NM_000152.5(GAA):c.2222A>T (p.Asp741Val) rs886044665
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg)
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2256C>T (p.Ile752=) rs1246868347
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2361A>C (p.Pro787=) rs1555602853
NM_000152.5(GAA):c.2380C>G (p.Arg794Gly) rs367779589
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
NM_000152.5(GAA):c.2383G>A (p.Glu795Lys) rs886043882
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.2474C>G (p.Pro825Arg) rs886042703
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) rs1555603096
NM_000152.5(GAA):c.2557G>C (p.Ala853Pro)
NM_000152.5(GAA):c.2563G>A (p.Gly855Arg)
NM_000152.5(GAA):c.257C>A (p.Pro86His)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.2599G>C (p.Val867Leu) rs2039405275
NM_000152.5(GAA):c.25T>C (p.Ser9Pro) rs886042671
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) rs1052555748
NM_000152.5(GAA):c.2635C>G (p.Leu879Val)
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.26C>G (p.Ser9Cys) rs1598568879
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
NM_000152.5(GAA):c.271_272delinsAG (p.Asp91Ser) rs797044668
NM_000152.5(GAA):c.272A>G (p.Asp91Gly)
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) rs756199247
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-2A>G rs2143938217
NM_000152.5(GAA):c.2848A>T (p.Ser950Cys)
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.347G>A (p.Gly116Glu) rs754285414
NM_000152.5(GAA):c.389C>G (p.Pro130Arg)
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.454C>G (p.Leu152Val) rs2143828990
NM_000152.5(GAA):c.506T>C (p.Leu169Pro)
NM_000152.5(GAA):c.522G>T (p.Glu174Asp)
NM_000152.5(GAA):c.534C>G (p.Arg178=) rs765613378
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.546+5G>T rs756024023
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.556C>T (p.Pro186Ser)
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
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.611C>T (p.Ala204Val)
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) rs1294294268
NM_000152.5(GAA):c.713C>T (p.Pro238Leu)
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.748A>G (p.Thr250Ala) rs2039117417
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) rs2143846362
NM_000152.5(GAA):c.773C>G (p.Thr258Arg) rs1214164784
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.804G>C (p.Met268Ile)
NM_000152.5(GAA):c.806T>C (p.Leu269Pro)
NM_000152.5(GAA):c.826A>G (p.Ile276Val) rs1407348932
NM_000152.5(GAA):c.829A>G (p.Thr277Ala)
NM_000152.5(GAA):c.83G>T (p.Gly28Val) rs886042598
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.927G>A (p.Gly309=) rs886043779

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