ClinVar Miner

List of variants in gene AP5Z1 reported as uncertain significance for Hereditary spastic paraplegia 48

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*2244G>A rs117144087 0.01674
NM_014855.3(AP5Z1):c.*2490G>C rs150684624 0.00831
NM_014855.3(AP5Z1):c.*1670G>C rs149234202 0.00696
NM_014855.3(AP5Z1):c.*92G>A rs112283999 0.00696
NM_014855.3(AP5Z1):c.*2678T>C rs186689012 0.00647
NM_014855.3(AP5Z1):c.*1641A>C rs192055966 0.00486
NM_014855.3(AP5Z1):c.*1187G>A rs188242891 0.00485
NM_014855.3(AP5Z1):c.*150G>A rs186823399 0.00478
NM_014855.3(AP5Z1):c.*2334C>T rs533072379 0.00435
NM_014855.3(AP5Z1):c.*1760G>A rs77146005 0.00418
NM_014855.3(AP5Z1):c.*532G>A rs527985598 0.00387
NM_014855.3(AP5Z1):c.*2013C>T rs191668940 0.00378
NM_014855.3(AP5Z1):c.*2858G>C rs193054132 0.00371
NM_014855.3(AP5Z1):c.*734G>C rs193235922 0.00363
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.*1065C>T rs558005571 0.00332
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.*531G>A rs114076345 0.00320
NM_014855.3(AP5Z1):c.*2222G>A rs377673816 0.00318
NM_014855.3(AP5Z1):c.*2719C>A rs140555165 0.00299
NM_014855.3(AP5Z1):c.*1733C>T rs182383318 0.00291
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.*2338G>A rs189898090 0.00267
NM_014855.3(AP5Z1):c.*2642T>G rs537332416 0.00262
NM_014855.3(AP5Z1):c.*537G>A rs146804830 0.00248
NM_014855.3(AP5Z1):c.*432C>G rs149131747 0.00245
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.*690A>G rs145742120 0.00185
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014855.3(AP5Z1):c.*766C>T rs549943787 0.00091
NM_014855.3(AP5Z1):c.*561C>T rs538631490 0.00084
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.*1576T>G rs539916245 0.00073
NM_014855.3(AP5Z1):c.*648C>T rs577133170 0.00073
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 0.00073
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) rs374146548 0.00072
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.*2624A>G rs1055465900 0.00063
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.*2068C>A rs561538511 0.00058
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014855.3(AP5Z1):c.*683G>A rs763158624 0.00046
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe) rs547137141 0.00044
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_014855.3(AP5Z1):c.*2983C>T rs181118091 0.00039
NM_014855.3(AP5Z1):c.1595+4C>T rs141607676 0.00039
NM_014855.3(AP5Z1):c.1806-15C>T rs201620155 0.00038
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp) rs199760184 0.00038
NM_014855.3(AP5Z1):c.*373G>A rs575299983 0.00033
NM_014855.3(AP5Z1):c.*1736C>G rs781023359 0.00032
NM_014855.3(AP5Z1):c.*1866C>A rs748344258 0.00031
NM_014855.3(AP5Z1):c.*2167G>A rs182688215 0.00031
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met) rs201862383 0.00029
NM_014855.3(AP5Z1):c.*843G>A rs537779263 0.00028
NM_014855.3(AP5Z1):c.*2228C>T rs115179819 0.00027
NM_014855.3(AP5Z1):c.*1738C>T rs768610280 0.00025
NM_014855.3(AP5Z1):c.*278G>A rs975774214 0.00023
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=) rs774921196 0.00023
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) rs199981070 0.00022
NM_014855.3(AP5Z1):c.*1586C>T rs555597896 0.00021
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr) rs201798269 0.00021
NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg) rs562425834 0.00019
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_014855.3(AP5Z1):c.*629C>T rs558891748 0.00018
NM_014855.3(AP5Z1):c.*1881A>T rs886062363 0.00017
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) rs370135619 0.00016
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) rs764332870 0.00016
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648 0.00016
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln) rs774461879 0.00016
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys) rs774832344 0.00016
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys) rs201067711 0.00015
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=) rs200617745 0.00015
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
NM_014855.3(AP5Z1):c.*2109G>A rs766301854 0.00013
NM_014855.3(AP5Z1):c.*2496G>A rs753348874 0.00013
NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu) rs372654170 0.00013
NM_014855.3(AP5Z1):c.1685C>T (p.Ala562Val) rs370300896 0.00013
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met) rs147369435 0.00013
NM_014855.3(AP5Z1):c.*1562C>T rs150159238 0.00011
NM_014855.3(AP5Z1):c.*241G>A rs570957705 0.00011
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) rs199930373 0.00011
NM_014855.3(AP5Z1):c.2386C>T (p.Arg796Trp) rs764310871 0.00011
NM_014855.3(AP5Z1):c.1132+7C>T rs775865217 0.00010
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) rs145463842 0.00010
NM_014855.3(AP5Z1):c.2354C>G (p.Thr785Arg) rs567731124 0.00010
NM_014855.3(AP5Z1):c.*2328G>A rs565562831 0.00009
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) rs60284677 0.00009
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser) rs369917291 0.00009
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014855.3(AP5Z1):c.59A>T (p.Glu20Val) rs781743376 0.00009
NM_014855.3(AP5Z1):c.*1003C>A rs565631932 0.00008
NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro) rs772560472 0.00008
NM_014855.3(AP5Z1):c.1938+11C>T rs201888478 0.00008
NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser) rs201682318 0.00008
NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln) rs201481802 0.00008
NM_014855.3(AP5Z1):c.366+4G>A rs776790989 0.00008
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu) rs750796286 0.00007
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn) rs748108455 0.00007
NM_014855.3(AP5Z1):c.*2503G>A rs886062365 0.00006
NM_014855.3(AP5Z1):c.*668G>A rs375098115 0.00006
NM_014855.3(AP5Z1):c.-68G>T rs546354621 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg) rs376329631 0.00006
NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu) rs566333309 0.00006
NM_014855.3(AP5Z1):c.1717G>A (p.Gly573Arg) rs746432998 0.00006
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu) rs765366145 0.00006
NM_014855.3(AP5Z1):c.1771T>C (p.Tyr591His) rs1490632344 0.00006
NM_014855.3(AP5Z1):c.1775C>T (p.Pro592Leu) rs781462204 0.00006
NM_014855.3(AP5Z1):c.1919C>T (p.Ala640Val) rs562874262 0.00006
NM_014855.3(AP5Z1):c.1978C>T (p.Arg660Trp) rs377514314 0.00006
NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile) rs1272533081 0.00006
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) rs199745141 0.00006
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=) rs374912181 0.00006
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264 0.00006
NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln) rs569233326 0.00006
NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met) rs756182519 0.00006
NM_014855.3(AP5Z1):c.623C>T (p.Pro208Leu) rs779121737 0.00006
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser) rs773542837 0.00006
NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr) rs765690642 0.00006
NM_014855.3(AP5Z1):c.*2153G>A rs111994210 0.00005
NM_014855.3(AP5Z1):c.*7A>G rs774520916 0.00005
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1422C>G (p.Pro474=) rs763844598 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014855.3(AP5Z1):c.535C>T (p.Arg179Trp) rs1040399898 0.00005
NM_014855.3(AP5Z1):c.*189G>A rs548571464 0.00004
NM_014855.3(AP5Z1):c.*2784C>T rs573731436 0.00004
NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp) rs367981328 0.00004
NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn) rs370859268 0.00004
NM_014855.3(AP5Z1):c.1430C>T (p.Thr477Met) rs375742671 0.00004
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) rs376913055 0.00004
NM_014855.3(AP5Z1):c.1568G>A (p.Arg523His) rs370116509 0.00004
NM_014855.3(AP5Z1):c.1789G>A (p.Ala597Thr) rs372555306 0.00004
NM_014855.3(AP5Z1):c.1838C>T (p.Thr613Met) rs766057998 0.00004
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser) rs772049256 0.00004
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His) rs371817388 0.00004
NM_014855.3(AP5Z1):c.2197C>G (p.Pro733Ala) rs764991282 0.00004
NM_014855.3(AP5Z1):c.2306C>G (p.Thr769Arg) rs757790495 0.00004
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_014855.3(AP5Z1):c.355C>G (p.Leu119Val) rs751601075 0.00004
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) rs768017182 0.00004
NM_014855.3(AP5Z1):c.624G>A (p.Pro208=) rs772392202 0.00004
NM_014855.3(AP5Z1):c.656C>G (p.Ala219Gly) rs767507147 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.854G>A (p.Arg285His) rs374794960 0.00004
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met) rs764235114 0.00004
NM_014855.3(AP5Z1):c.*2185C>T rs886062364 0.00003
NM_014855.3(AP5Z1):c.*2243C>T rs539348967 0.00003
NM_014855.3(AP5Z1):c.*820C>G rs575429444 0.00003
NM_014855.3(AP5Z1):c.1190C>T (p.Pro397Leu) rs759329689 0.00003
NM_014855.3(AP5Z1):c.1288T>G (p.Leu430Val) rs769512279 0.00003
NM_014855.3(AP5Z1):c.1455-12C>T rs1038026978 0.00003
NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys) rs777692803 0.00003
NM_014855.3(AP5Z1):c.1645G>A (p.Val549Met) rs536448969 0.00003
NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met) rs182694738 0.00003
NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly) rs756631068 0.00003
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln) rs200423282 0.00003
NM_014855.3(AP5Z1):c.2194A>C (p.Ser732Arg) rs201934980 0.00003
NM_014855.3(AP5Z1):c.328C>T (p.Arg110Trp) rs761446953 0.00003
NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile) rs765261590 0.00003
NM_014855.3(AP5Z1):c.385G>T (p.Val129Phe) rs369230277 0.00003
NM_014855.3(AP5Z1):c.497G>A (p.Gly166Asp) rs374914983 0.00003
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His) rs1000589136 0.00003
NM_014855.3(AP5Z1):c.766G>A (p.Glu256Lys) rs1254332461 0.00003
NM_014855.3(AP5Z1):c.790+6C>T rs776469236 0.00003
NM_014855.3(AP5Z1):c.835G>A (p.Ala279Thr) rs542054269 0.00003
NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp) rs1196396832 0.00003
NM_014855.3(AP5Z1):c.*119C>A rs576259662 0.00002
NM_014855.3(AP5Z1):c.1082C>T (p.Pro361Leu) rs772283887 0.00002
NM_014855.3(AP5Z1):c.1140G>A (p.Ala380=) rs766090660 0.00002
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn) rs777150652 0.00002
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) rs748913228 0.00002
NM_014855.3(AP5Z1):c.2378C>T (p.Thr793Met) rs775668440 0.00002
NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn) rs547606175 0.00002
NM_014855.3(AP5Z1):c.589G>A (p.Gly197Ser) rs746939195 0.00002
NM_014855.3(AP5Z1):c.592G>A (p.Gly198Ser) rs757322471 0.00002
NM_014855.3(AP5Z1):c.602C>T (p.Ser201Phe) rs920304598 0.00002
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528 0.00002
NM_014855.3(AP5Z1):c.821T>G (p.Leu274Arg) rs779893770 0.00002
NM_014855.3(AP5Z1):c.868C>T (p.Arg290Trp) rs768595771 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_014855.3(AP5Z1):c.*1203G>A rs886062358 0.00001
NM_014855.3(AP5Z1):c.*1204C>G rs886062359 0.00001
NM_014855.3(AP5Z1):c.*1220A>G rs1446711478 0.00001
NM_014855.3(AP5Z1):c.*152G>T rs886062355 0.00001
NM_014855.3(AP5Z1):c.*1930T>C rs1284812693 0.00001
NM_014855.3(AP5Z1):c.*229G>A rs535419745 0.00001
NM_014855.3(AP5Z1):c.*261G>A rs1315573812 0.00001
NM_014855.3(AP5Z1):c.*2940C>T rs573728891 0.00001
NM_014855.3(AP5Z1):c.*346A>G rs1045763673 0.00001
NM_014855.3(AP5Z1):c.*625G>A rs959075651 0.00001
NM_014855.3(AP5Z1):c.*754G>A rs759877524 0.00001
NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln) rs549733205 0.00001
NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys) rs551568063 0.00001
NM_014855.3(AP5Z1):c.1097T>C (p.Val366Ala) rs1308876232 0.00001
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) rs886062353 0.00001
NM_014855.3(AP5Z1):c.1132+10G>A rs763573216 0.00001
NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys) rs772831449 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) rs780422345 0.00001
NM_014855.3(AP5Z1):c.1910G>A (p.Cys637Tyr) rs557706442 0.00001
NM_014855.3(AP5Z1):c.1949T>G (p.Ile650Ser) rs997666417 0.00001
NM_014855.3(AP5Z1):c.1963T>C (p.Ser655Pro) rs764228580 0.00001
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile) rs1243924522 0.00001
NM_014855.3(AP5Z1):c.2038G>A (p.Glu680Lys) rs745870220 0.00001
NM_014855.3(AP5Z1):c.2081C>T (p.Pro694Leu) rs1368922764 0.00001
NM_014855.3(AP5Z1):c.2089G>T (p.Val697Leu) rs769732363 0.00001
NM_014855.3(AP5Z1):c.2113C>G (p.Leu705Val) rs762540035 0.00001
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys) rs1250099836 0.00001
NM_014855.3(AP5Z1):c.2189C>T (p.Ala730Val) rs750683459 0.00001
NM_014855.3(AP5Z1):c.2231C>T (p.Ala744Val) rs776245278 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys) rs754594403 0.00001
NM_014855.3(AP5Z1):c.2414T>C (p.Met805Thr) rs1287234215 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.394G>A (p.Val132Met) rs886062349 0.00001
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.42G>A (p.Arg14=) rs1469934561 0.00001
NM_014855.3(AP5Z1):c.460C>T (p.Leu154Phe) rs759815287 0.00001
NM_014855.3(AP5Z1):c.478G>A (p.Val160Ile) rs752115827 0.00001
NM_014855.3(AP5Z1):c.560C>T (p.Ala187Val) rs1325471838 0.00001
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu) rs752495902 0.00001
NM_014855.3(AP5Z1):c.606G>A (p.Thr202=) rs928947081 0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) rs761451474 0.00001
NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile) rs771385792 0.00001
NM_014855.3(AP5Z1):c.779C>T (p.Thr260Ile) rs894028182 0.00001
NM_014855.3(AP5Z1):c.790+7G>A rs759449685 0.00001
NM_014855.3(AP5Z1):c.812G>A (p.Gly271Asp) rs780846649 0.00001
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln) rs778734781 0.00001
NM_014855.3(AP5Z1):c.*1094G>A rs140844502
NM_014855.3(AP5Z1):c.*1162C>G rs749324858
NM_014855.3(AP5Z1):c.*1219C>T rs572193795
NM_014855.3(AP5Z1):c.*1260G>A rs1183570786
NM_014855.3(AP5Z1):c.*1266C>T rs886062360
NM_014855.3(AP5Z1):c.*1357T>G rs1359983570
NM_014855.3(AP5Z1):c.*1458C>T rs896431597
NM_014855.3(AP5Z1):c.*1480T>G rs886062361
NM_014855.3(AP5Z1):c.*149C>G rs761922257
NM_014855.3(AP5Z1):c.*149C>T rs761922257
NM_014855.3(AP5Z1):c.*1587G>A rs1781833695
NM_014855.3(AP5Z1):c.*158C>A rs551093436
NM_014855.3(AP5Z1):c.*1679C>T rs1372377816
NM_014855.3(AP5Z1):c.*1701C>T rs80311758
NM_014855.3(AP5Z1):c.*1750G>C rs886062362
NM_014855.3(AP5Z1):c.*1794C>T rs186935731
NM_014855.3(AP5Z1):c.*190A>C rs1232009202
NM_014855.3(AP5Z1):c.*19C>T rs1781768718
NM_014855.3(AP5Z1):c.*206G>C rs1781776627
NM_014855.3(AP5Z1):c.*2241G>A rs1037534193
NM_014855.3(AP5Z1):c.*2306G>T rs540809527
NM_014855.3(AP5Z1):c.*2363C>T rs530936725
NM_014855.3(AP5Z1):c.*2364G>A rs1054789444
NM_014855.3(AP5Z1):c.*2411C>T rs571859846
NM_014855.3(AP5Z1):c.*2574C>T rs886062366
NM_014855.3(AP5Z1):c.*2639G>C rs1205750842
NM_014855.3(AP5Z1):c.*2695T>C rs1309266493
NM_014855.3(AP5Z1):c.*2760G>A rs1781878084
NM_014855.3(AP5Z1):c.*2838A>G rs534373877
NM_014855.3(AP5Z1):c.*527G>A rs758084749
NM_014855.3(AP5Z1):c.*669G>T rs893447235
NM_014855.3(AP5Z1):c.*765C>T rs114829927
NM_014855.3(AP5Z1):c.*806G>C rs190210301
NM_014855.3(AP5Z1):c.*833C>G rs1329819591
NM_014855.3(AP5Z1):c.*971C>G rs529715248
NM_014855.3(AP5Z1):c.*999C>T rs1562417370
NM_014855.3(AP5Z1):c.-26C>T rs1049028734
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs) rs1562408333
NM_014855.3(AP5Z1):c.1034G>A (p.Arg345Gln)
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)
NM_014855.3(AP5Z1):c.1063G>A (p.Gly355Arg)
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del) rs1339701497
NM_014855.3(AP5Z1):c.1087T>C (p.Ser363Pro)
NM_014855.3(AP5Z1):c.1088C>T (p.Ser363Phe)
NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala)
NM_014855.3(AP5Z1):c.1096G>T (p.Val366Leu)
NM_014855.3(AP5Z1):c.1108C>G (p.Leu370Val)
NM_014855.3(AP5Z1):c.1117TTC[1] (p.Phe374del)
NM_014855.3(AP5Z1):c.1124T>C (p.Leu375Pro)
NM_014855.3(AP5Z1):c.1131C>G (p.His377Gln)
NM_014855.3(AP5Z1):c.1144G>A (p.Ala382Thr) rs753529900
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu)
NM_014855.3(AP5Z1):c.1197_1198delinsAG (p.Gln400Glu) rs1583234434
NM_014855.3(AP5Z1):c.1201T>C (p.Phe401Leu)
NM_014855.3(AP5Z1):c.1208G>A (p.Ser403Asn)
NM_014855.3(AP5Z1):c.1290G>C (p.Leu430Phe)
NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser)
NM_014855.3(AP5Z1):c.1312-9T>G rs964732025
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val) rs113014863
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1345G>A (p.Glu449Lys)
NM_014855.3(AP5Z1):c.1357C>G (p.Leu453Val) rs376979127
NM_014855.3(AP5Z1):c.1378G>A (p.Ala460Thr) rs371881628
NM_014855.3(AP5Z1):c.1378G>T (p.Ala460Ser)
NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile)
NM_014855.3(AP5Z1):c.1391T>C (p.Leu464Pro)
NM_014855.3(AP5Z1):c.1403A>G (p.His468Arg)
NM_014855.3(AP5Z1):c.1424G>A (p.Cys475Tyr)
NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val)
NM_014855.3(AP5Z1):c.1454+5G>T rs1583236514
NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln)
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)
NM_014855.3(AP5Z1):c.1521G>C (p.Glu507Asp) rs771555660
NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly) rs370879999
NM_014855.3(AP5Z1):c.1531G>T (p.Asp511Tyr) rs1781620399
NM_014855.3(AP5Z1):c.1534C>G (p.Pro512Ala)
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr) rs535174478
NM_014855.3(AP5Z1):c.1589C>G (p.Thr530Ser)
NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu)
NM_014855.3(AP5Z1):c.1595+5G>A
NM_014855.3(AP5Z1):c.1596-12_1596-11del
NM_014855.3(AP5Z1):c.1596-3C>T
NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe)
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His) rs200224845
NM_014855.3(AP5Z1):c.1661A>C (p.Gln554Pro)
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met)
NM_014855.3(AP5Z1):c.1689C>A (p.Phe563Leu) rs757247884
NM_014855.3(AP5Z1):c.1707+11_1707+12delinsCC
NM_014855.3(AP5Z1):c.1707+5G>A
NM_014855.3(AP5Z1):c.1708-19T>G
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp)
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe)
NM_014855.3(AP5Z1):c.179+3G>A
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.180-3C>T
NM_014855.3(AP5Z1):c.1803C>G (p.His601Gln) rs1562413667
NM_014855.3(AP5Z1):c.1846C>A (p.Pro616Thr) rs1781727346
NM_014855.3(AP5Z1):c.1850C>G (p.Ser617Cys) rs1583241907
NM_014855.3(AP5Z1):c.1850C>T (p.Ser617Phe) rs1583241907
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn) rs1781728649
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met)
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val) rs867457810
NM_014855.3(AP5Z1):c.1923C>G (p.Ser641Arg) rs773754717
NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly)
NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp) rs376335137
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)
NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val)
NM_014855.3(AP5Z1):c.2033T>A (p.Leu678Gln)
NM_014855.3(AP5Z1):c.2037C>G (p.Phe679Leu)
NM_014855.3(AP5Z1):c.2047C>A (p.Gln683Lys) rs886062354
NM_014855.3(AP5Z1):c.2079dup (p.Pro694fs)
NM_014855.3(AP5Z1):c.2086dup (p.Gln696fs) rs771683676
NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu) rs2115103040
NM_014855.3(AP5Z1):c.2102T>C (p.Leu701Pro) rs1317738698
NM_014855.3(AP5Z1):c.2105T>C (p.Met702Thr)
NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup) rs746548308
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met)
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) rs752688603
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met)
NM_014855.3(AP5Z1):c.2122C>A (p.Leu708Met)
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp) rs113184057
NM_014855.3(AP5Z1):c.2142T>G (p.Asp714Glu) rs1781744978
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2155G>A (p.Ala719Thr) rs780512257
NM_014855.3(AP5Z1):c.2174A>G (p.Lys725Arg) rs1781756221
NM_014855.3(AP5Z1):c.2185del (p.Leu729fs) rs1326802596
NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu)
NM_014855.3(AP5Z1):c.2206A>G (p.Ser736Gly) rs1562415549
NM_014855.3(AP5Z1):c.2213C>T (p.Thr738Met) rs1781757996
NM_014855.3(AP5Z1):c.2221G>C (p.Glu741Gln)
NM_014855.3(AP5Z1):c.2222AGG[1] (p.Glu742del)
NM_014855.3(AP5Z1):c.2239A>C (p.Ile747Leu)
NM_014855.3(AP5Z1):c.2241C>G (p.Ile747Met)
NM_014855.3(AP5Z1):c.2243G>A (p.Arg748His)
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp) rs376075136
NM_014855.3(AP5Z1):c.2281C>G (p.Pro761Ala) rs768616888
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn)
NM_014855.3(AP5Z1):c.2339A>C (p.His780Pro) rs763182775
NM_014855.3(AP5Z1):c.2363C>G (p.Pro788Arg) rs893581542
NM_014855.3(AP5Z1):c.2363_2374del (p.Pro788_Leu791del) rs759647835
NM_014855.3(AP5Z1):c.2368_2373del (p.Ala790_Leu791del)
NM_014855.3(AP5Z1):c.2374C>T (p.Arg792Cys)
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys) rs199577559
NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly)
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)
NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser)
NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro) rs1781386835
NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met)
NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr) rs1181668776
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val)
NM_014855.3(AP5Z1):c.379G>C (p.Glu127Gln) rs115454162
NM_014855.3(AP5Z1):c.383A>T (p.Glu128Val) rs1781435214
NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)
NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile)
NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe)
NM_014855.3(AP5Z1):c.511+5G>A rs759729051
NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val)
NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr)
NM_014855.3(AP5Z1):c.57G>T (p.Glu19Asp) rs752031110
NM_014855.3(AP5Z1):c.585C>G (p.His195Gln) rs886062350
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys)
NM_014855.3(AP5Z1):c.628C>A (p.Pro210Thr) rs773542837
NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)
NM_014855.3(AP5Z1):c.652G>T (p.Val218Leu)
NM_014855.3(AP5Z1):c.682A>G (p.Ser228Gly)
NM_014855.3(AP5Z1):c.685G>A (p.Gly229Ser)
NM_014855.3(AP5Z1):c.696C>A (p.Phe232Leu) rs1361563941
NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val) rs767413099
NM_014855.3(AP5Z1):c.703G>A (p.Asp235Asn)
NM_014855.3(AP5Z1):c.715A>T (p.Asn239Tyr) rs1781470617
NM_014855.3(AP5Z1):c.724G>C (p.Ala242Pro) rs886062351
NM_014855.3(AP5Z1):c.725C>T (p.Ala242Val) rs781388706
NM_014855.3(AP5Z1):c.731C>G (p.Ser244Cys)
NM_014855.3(AP5Z1):c.739C>T (p.Arg247Trp) rs768288736
NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln) rs774068163
NM_014855.3(AP5Z1):c.760G>T (p.Gly254Cys) rs772318205
NM_014855.3(AP5Z1):c.766G>C (p.Glu256Gln)
NM_014855.3(AP5Z1):c.775G>A (p.Gly259Ser)
NM_014855.3(AP5Z1):c.790+15G>A rs886062352
NM_014855.3(AP5Z1):c.791-3C>T rs1480152137
NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln) rs768361738
NM_014855.3(AP5Z1):c.815C>G (p.Ser272Cys) rs745607941
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393
NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala) rs554060393
NM_014855.3(AP5Z1):c.853C>T (p.Arg285Cys)
NM_014855.3(AP5Z1):c.863C>T (p.Pro288Leu)
NM_014855.3(AP5Z1):c.890C>G (p.Ala297Gly) rs927793345
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His)
NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu)
NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro)
NM_014855.3(AP5Z1):c.949G>T (p.Asp317Tyr) rs775289012
NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala)
NM_014855.3(AP5Z1):c.955G>A (p.Asp319Asn)
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014855.3(AP5Z1):c.970T>C (p.Cys324Arg) rs938469146
NM_014855.3(AP5Z1):c.972C>G (p.Cys324Trp) rs1583233186
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)

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