ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 48 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 658
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1707+11T>C rs3750012 0.17011
NM_014855.3(AP5Z1):c.512-7A>G rs73305371 0.07873
NM_014855.3(AP5Z1):c.970-13C>T rs73305376 0.06374
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=) rs17135128 0.06038
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.1312-20C>T rs114137831 0.00915
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) rs186993311 0.00386
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.1133-19G>C rs148117172 0.00320
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=) rs373689894 0.00288
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=) rs377532483 0.00287
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.41+16G>A rs139999461 0.00247
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.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
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.1434G>A (p.Ala478=) rs75185826 0.00084
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.1312-19C>T rs186277796 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.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638 0.00053
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=) rs563984280 0.00047
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
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.675G>C (p.Val225=) rs374167435 0.00036
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.490A>G (p.Ser164Gly) rs202169962 0.00027
NM_014855.3(AP5Z1):c.1284C>G (p.Leu428=) rs368076671 0.00026
NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=) rs534516510 0.00025
NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu) rs201971666 0.00024
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.790+18A>T rs150460713 0.00022
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr) rs201798269 0.00021
NM_014855.3(AP5Z1):c.511+19A>G rs367613413 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.258C>T (p.Cys86=) rs369050534 0.00019
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
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.2019C>G (p.Ala673=) rs368623061 0.00015
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) rs201677317 0.00015
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
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.550C>T (p.Leu184=) rs373829290 0.00012
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) rs199930373 0.00011
NM_014855.3(AP5Z1):c.1595+16G>A rs775187848 0.00011
NM_014855.3(AP5Z1):c.2386C>T (p.Arg796Trp) rs764310871 0.00011
NM_014855.3(AP5Z1):c.765C>T (p.Pro255=) rs750707781 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.2248C>A (p.Arg750=) rs376075136 0.00010
NM_014855.3(AP5Z1):c.2354C>G (p.Thr785Arg) rs567731124 0.00010
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) rs777143531 0.00010
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 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.834C>T (p.Ser278=) rs113192428 0.00009
NM_014855.3(AP5Z1):c.931+10C>A rs377356001 0.00009
NM_014855.3(AP5Z1):c.970-12C>G rs372506896 0.00009
NM_014855.3(AP5Z1):c.1026C>T (p.Phe342=) rs759537675 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.864G>A (p.Pro288=) rs372643577 0.00008
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_014855.3(AP5Z1):c.1708-16C>T rs551043856 0.00007
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu) rs750796286 0.00007
NM_014855.3(AP5Z1):c.2013C>T (p.Phe671=) rs750771636 0.00007
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn) rs748108455 0.00007
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) rs756954352 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.120C>T (p.Asp40=) rs374592930 0.00006
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg) rs376329631 0.00006
NM_014855.3(AP5Z1):c.1312-10G>A rs770895241 0.00006
NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu) rs566333309 0.00006
NM_014855.3(AP5Z1):c.1454+13C>T rs763660409 0.00006
NM_014855.3(AP5Z1):c.1485C>G (p.Leu495=) rs377274807 0.00006
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) rs745794388 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.1806-4G>A rs547245020 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.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.791-4G>A rs368052767 0.00006
NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr) rs765690642 0.00006
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870 0.00006
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1707+8C>T rs374691049 0.00005
NM_014855.3(AP5Z1):c.195C>T (p.Cys65=) rs376335137 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014855.3(AP5Z1):c.318G>A (p.Thr106=) rs769266009 0.00005
NM_014855.3(AP5Z1):c.366+9G>A rs374673755 0.00005
NM_014855.3(AP5Z1):c.535C>T (p.Arg179Trp) rs1040399898 0.00005
NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp) rs367981328 0.00004
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter) rs762066700 0.00004
NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=) rs763868444 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.1437G>T (p.Val479=) rs1038245729 0.00004
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) rs376913055 0.00004
NM_014855.3(AP5Z1):c.1536G>A (p.Pro512=) rs757364334 0.00004
NM_014855.3(AP5Z1):c.1788C>T (p.Tyr596=) rs768113900 0.00004
NM_014855.3(AP5Z1):c.1789G>A (p.Ala597Thr) rs372555306 0.00004
NM_014855.3(AP5Z1):c.180-9G>A rs529887558 0.00004
NM_014855.3(AP5Z1):c.1838C>T (p.Thr613Met) rs766057998 0.00004
NM_014855.3(AP5Z1):c.1839G>A (p.Thr613=) rs964017328 0.00004
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser) rs772049256 0.00004
NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=) rs547171686 0.00004
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His) rs371817388 0.00004
NM_014855.3(AP5Z1):c.210G>A (p.Gln70=) rs767417376 0.00004
NM_014855.3(AP5Z1):c.2148C>A (p.Ile716=) rs578236834 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.543C>T (p.Val181=) rs1050248739 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.891C>T (p.Ala297=) rs763250825 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met) rs764235114 0.00004
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.1365G>A (p.Pro455=) rs1274908825 0.00003
NM_014855.3(AP5Z1):c.1407G>A (p.Ala469=) rs757042274 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.219C>T (p.Leu73=) rs560439547 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.511+6C>T rs770095188 0.00003
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His) rs1000589136 0.00003
NM_014855.3(AP5Z1):c.672G>A (p.Thr224=) rs369755844 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.948G>C (p.Gly316=) rs769272823 0.00003
NM_014855.3(AP5Z1):c.984C>T (p.Ala328=) rs763042987 0.00003
NM_014855.3(AP5Z1):c.1023C>T (p.Ser341=) rs975709752 0.00002
NM_014855.3(AP5Z1):c.1082C>T (p.Pro361Leu) rs772283887 0.00002
NM_014855.3(AP5Z1):c.1083G>A (p.Pro361=) rs773577764 0.00002
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=) rs527642993 0.00002
NM_014855.3(AP5Z1):c.1500C>G (p.Leu500=) rs374604255 0.00002
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn) rs777150652 0.00002
NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile) rs1272533081 0.00002
NM_014855.3(AP5Z1):c.2109C>A (p.Thr703=) rs1244202957 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.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.970-4G>A rs559842146 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
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.1074C>T (p.Arg358=) rs774452213 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.1135G>A (p.Glu379Lys) rs772831449 0.00001
NM_014855.3(AP5Z1):c.1428G>A (p.Leu476=) rs1554258349 0.00001
NM_014855.3(AP5Z1):c.1431G>A (p.Thr477=) rs369951556 0.00001
NM_014855.3(AP5Z1):c.1595+19A>G rs111580118 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1611C>T (p.His537=) rs768151612 0.00001
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=) rs761290075 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1716C>T (p.Asp572=) rs777196051 0.00001
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=) rs750818039 0.00001
NM_014855.3(AP5Z1):c.179+15G>A rs749007746 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.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.2118G>A (p.Thr706=) rs374137416 0.00001
NM_014855.3(AP5Z1):c.2154-4C>G rs1392478975 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.2274G>A (p.Leu758=) rs965077399 0.00001
NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=) rs542956735 0.00001
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=) rs925870726 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.2367G>C (p.Leu789=) rs1405994261 0.00001
NM_014855.3(AP5Z1):c.2391G>T (p.Leu797=) rs750850551 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.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.49C>T (p.Gln17Ter) rs765332596 0.00001
NM_014855.3(AP5Z1):c.560C>T (p.Ala187Val) rs1325471838 0.00001
NM_014855.3(AP5Z1):c.561C>T (p.Ala187=) rs754635814 0.00001
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu) rs752495902 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.721C>T (p.Gln241Ter) rs751778396 0.00001
NM_014855.3(AP5Z1):c.753G>A (p.Leu251=) rs908638350 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.791-10C>T rs760000663 0.00001
NM_014855.3(AP5Z1):c.812G>A (p.Gly271Asp) rs780846649 0.00001
NM_014855.3(AP5Z1):c.819T>G (p.Thr273=) rs1395360669 0.00001
NM_014855.3(AP5Z1):c.903C>T (p.Cys301=) rs767005823 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NC_000007.13:g.(?_4816199)_4825153del
NC_000007.14:g.(?_4788154)_(4794395_?)del
NM_014855.3(AP5Z1):c.1008C>T (p.Cys336=)
NM_014855.3(AP5Z1):c.1020G>A (p.Pro340=)
NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=)
NM_014855.3(AP5Z1):c.1034G>A (p.Arg345Gln)
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)
NM_014855.3(AP5Z1):c.1042_1043del (p.Ser348fs)
NM_014855.3(AP5Z1):c.1063G>A (p.Gly355Arg)
NM_014855.3(AP5Z1):c.1068G>A (p.Arg356=)
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.1096G>T (p.Val366Leu)
NM_014855.3(AP5Z1):c.1101G>A (p.Leu367=)
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.1132+1_1132+3del rs2115114032
NM_014855.3(AP5Z1):c.1133-12C>G
NM_014855.3(AP5Z1):c.1133-12C>T
NM_014855.3(AP5Z1):c.1133-15dup
NM_014855.3(AP5Z1):c.1133-16G>A
NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=)
NM_014855.3(AP5Z1):c.1144G>A (p.Ala382Thr) rs753529900
NM_014855.3(AP5Z1):c.1161C>T (p.Ala387=)
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu)
NM_014855.3(AP5Z1):c.1181C>T (p.Thr394Ile)
NM_014855.3(AP5Z1):c.1191G>A (p.Pro397=)
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.1251C>T (p.Asn417=)
NM_014855.3(AP5Z1):c.1260G>A (p.Leu420=)
NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=)
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
NM_014855.3(AP5Z1):c.1281C>A (p.Thr427=)
NM_014855.3(AP5Z1):c.1290G>C (p.Leu430Phe)
NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser)
NM_014855.3(AP5Z1):c.1311+11G>A
NM_014855.3(AP5Z1):c.1311+17C>G
NM_014855.3(AP5Z1):c.1311+7T>G
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.1344C>T (p.Ser448=)
NM_014855.3(AP5Z1):c.1345G>A (p.Glu449Lys)
NM_014855.3(AP5Z1):c.1353G>T (p.Val451=)
NM_014855.3(AP5Z1):c.1374G>A (p.Val458=)
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.1404C>T (p.His468=)
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.1454+6C>T
NM_014855.3(AP5Z1):c.1455-14G>A
NM_014855.3(AP5Z1):c.1455-15C>T
NM_014855.3(AP5Z1):c.1455-18G>A
NM_014855.3(AP5Z1):c.1455-4G>A rs539344057
NM_014855.3(AP5Z1):c.1455-5C>T
NM_014855.3(AP5Z1):c.1455-7_1455-5dup
NM_014855.3(AP5Z1):c.1473C>T (p.Ser491=)
NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln)
NM_014855.3(AP5Z1):c.1498C>T (p.Leu500Phe)
NM_014855.3(AP5Z1):c.1499_1500del (p.Leu500fs)
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)
NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=)
NM_014855.3(AP5Z1):c.1509_1595+26del
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.1524C>A (p.Ala508=)
NM_014855.3(AP5Z1):c.1530G>C (p.Arg510=) rs2115120162
NM_014855.3(AP5Z1):c.1534C>G (p.Pro512Ala)
NM_014855.3(AP5Z1):c.1535C>T (p.Pro512Leu)
NM_014855.3(AP5Z1):c.1536G>T (p.Pro512=) rs757364334
NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=)
NM_014855.3(AP5Z1):c.1569C>T (p.Arg523=)
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+10C>T
NM_014855.3(AP5Z1):c.1595+15G>A
NM_014855.3(AP5Z1):c.1595+17C>A
NM_014855.3(AP5Z1):c.1595+5G>A
NM_014855.3(AP5Z1):c.1595+8G>A
NM_014855.3(AP5Z1):c.1595+8del rs2115120465
NM_014855.3(AP5Z1):c.1596-12_1596-11del
NM_014855.3(AP5Z1):c.1596-19G>A
NM_014855.3(AP5Z1):c.1596-20C>A
NM_014855.3(AP5Z1):c.1596-20C>T
NM_014855.3(AP5Z1):c.1596-3C>T
NM_014855.3(AP5Z1):c.1596-5C>T
NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe)
NM_014855.3(AP5Z1):c.1632C>T (p.Ala544=)
NM_014855.3(AP5Z1):c.1635C>G (p.Gly545=)
NM_014855.3(AP5Z1):c.1635C>T (p.Gly545=)
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His) rs200224845
NM_014855.3(AP5Z1):c.1643G>T (p.Arg548Leu)
NM_014855.3(AP5Z1):c.1650C>G (p.Ala550=)
NM_014855.3(AP5Z1):c.1661A>C (p.Gln554Pro)
NM_014855.3(AP5Z1):c.1665C>G (p.Ala555=) rs761290075
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met)
NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=)
NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=) rs374928584
NM_014855.3(AP5Z1):c.1686A>G (p.Ala562=)
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+16G>A
NM_014855.3(AP5Z1):c.1707+1G>A
NM_014855.3(AP5Z1):c.1707+25dup rs529746844
NM_014855.3(AP5Z1):c.1707+5G>A
NM_014855.3(AP5Z1):c.1708-18C>T
NM_014855.3(AP5Z1):c.1708-19T>G
NM_014855.3(AP5Z1):c.1708-3dup
NM_014855.3(AP5Z1):c.1708-6C>T
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs) rs1562413480
NM_014855.3(AP5Z1):c.1728C>A (p.Ile576=) rs550686881
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=)
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp)
NM_014855.3(AP5Z1):c.1767G>A (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>C (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe)
NM_014855.3(AP5Z1):c.1776G>A (p.Pro592=)
NM_014855.3(AP5Z1):c.179+3G>A
NM_014855.3(AP5Z1):c.1794C>A (p.Ala598=)
NM_014855.3(AP5Z1):c.1794C>G (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.180-16G>A
NM_014855.3(AP5Z1):c.180-19C>T
NM_014855.3(AP5Z1):c.180-3C>T
NM_014855.3(AP5Z1):c.1803C>G (p.His601Gln) rs1562413667
NM_014855.3(AP5Z1):c.1805+11C>T
NM_014855.3(AP5Z1):c.1805+13T>C
NM_014855.3(AP5Z1):c.1805+16G>A
NM_014855.3(AP5Z1):c.1805+20C>G
NM_014855.3(AP5Z1):c.1805+7C>T
NM_014855.3(AP5Z1):c.1805+8C>G
NM_014855.3(AP5Z1):c.1806-12C>G
NM_014855.3(AP5Z1):c.1806-12C>T rs78959612
NM_014855.3(AP5Z1):c.1806-1G>C
NM_014855.3(AP5Z1):c.1806-6_1818del
NM_014855.3(AP5Z1):c.1839G>T (p.Thr613=)
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.1854G>C (p.Leu618=) rs1000978059
NM_014855.3(AP5Z1):c.1866G>T (p.Leu622=)
NM_014855.3(AP5Z1):c.1872A>G (p.Arg624=)
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn) rs1781728649
NM_014855.3(AP5Z1):c.1879C>T (p.Leu627=)
NM_014855.3(AP5Z1):c.1890G>A (p.Leu630=)
NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)
NM_014855.3(AP5Z1):c.1896C>T (p.Ser632=)
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met)
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val) rs867457810
NM_014855.3(AP5Z1):c.1920G>A (p.Ala640=) rs369767394
NM_014855.3(AP5Z1):c.1920G>C (p.Ala640=)
NM_014855.3(AP5Z1):c.1920G>T (p.Ala640=)
NM_014855.3(AP5Z1):c.1923C>G (p.Ser641Arg) rs773754717
NM_014855.3(AP5Z1):c.1923C>T (p.Ser641=) rs773754717
NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=)
NM_014855.3(AP5Z1):c.1938+12G>A
NM_014855.3(AP5Z1):c.1938+18C>T
NM_014855.3(AP5Z1):c.1938+8G>A
NM_014855.3(AP5Z1):c.1938+9G>C
NM_014855.3(AP5Z1):c.1939-11C>A rs377395124
NM_014855.3(AP5Z1):c.1939-11C>T
NM_014855.3(AP5Z1):c.1939-16_1939-15del
NM_014855.3(AP5Z1):c.1939-5C>T
NM_014855.3(AP5Z1):c.1939-6del
NM_014855.3(AP5Z1):c.1950C>T (p.Ile650=)
NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)
NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly)
NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp) rs376335137
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=) rs543467648
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.2010C>T (p.Phe670=)
NM_014855.3(AP5Z1):c.2016A>G (p.Glu672=)
NM_014855.3(AP5Z1):c.2025G>A (p.Glu675=) rs758146937
NM_014855.3(AP5Z1):c.2033T>A (p.Leu678Gln)
NM_014855.3(AP5Z1):c.2037C>G (p.Phe679Leu)
NM_014855.3(AP5Z1):c.2043C>T (p.Val681=)
NM_014855.3(AP5Z1):c.2049G>A (p.Gln683=)
NM_014855.3(AP5Z1):c.2061T>C (p.Ser687=)
NM_014855.3(AP5Z1):c.2079_2091del (p.Cys693fs)
NM_014855.3(AP5Z1):c.2079_2100del (p.Cys693_Pro694insTer) rs2115129514
NM_014855.3(AP5Z1):c.2079del (p.Gln696fs)
NM_014855.3(AP5Z1):c.2079dup (p.Pro694fs)
NM_014855.3(AP5Z1):c.2085C>T (p.Pro695=) rs746736951
NM_014855.3(AP5Z1):c.2086dup (p.Gln696fs) rs771683676
NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=)
NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=)
NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu) rs2115103040
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.210_231del (p.Gln70fs) rs1562404571
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met)
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) rs765844025
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) rs752688603
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met)
NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=)
NM_014855.3(AP5Z1):c.2130C>T (p.Ser710=)
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.2145G>A (p.Leu715=)
NM_014855.3(AP5Z1):c.2145G>T (p.Leu715=)
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014855.3(AP5Z1):c.2153+13G>A
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2153+8G>C rs189564026
NM_014855.3(AP5Z1):c.2154-15A>T
NM_014855.3(AP5Z1):c.2154-16G>A
NM_014855.3(AP5Z1):c.2154-16G>C rs1562415433
NM_014855.3(AP5Z1):c.2154-18G>A
NM_014855.3(AP5Z1):c.2154-5C>T
NM_014855.3(AP5Z1):c.2155G>A (p.Ala719Thr) rs780512257
NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=)
NM_014855.3(AP5Z1):c.2185del (p.Leu729fs) rs1326802596
NM_014855.3(AP5Z1):c.2196T>C (p.Ser732=) rs1472223606
NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu)
NM_014855.3(AP5Z1):c.2199A>T (p.Pro733=)
NM_014855.3(AP5Z1):c.2202C>A (p.Ala734=)
NM_014855.3(AP5Z1):c.2206A>G (p.Ser736Gly) rs1562415549
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del) rs139155501
NM_014855.3(AP5Z1):c.2213C>T (p.Thr738Met) rs1781757996
NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=)
NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=)
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.2253C>T (p.Ala751=)
NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=)
NM_014855.3(AP5Z1):c.2281C>G (p.Pro761Ala) rs768616888
NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=)
NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg) rs1583222163
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn)
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637
NM_014855.3(AP5Z1):c.2339A>C (p.His780Pro) rs763182775
NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=)
NM_014855.3(AP5Z1):c.2361G>A (p.Leu787=) rs878854988
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.2379G>A (p.Thr793=)
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys) rs199577559
NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=)
NM_014855.3(AP5Z1):c.2394G>A (p.Val798=)
NM_014855.3(AP5Z1):c.2394G>T (p.Val798=)
NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly)
NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=)
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)
NM_014855.3(AP5Z1):c.282C>T (p.Ser94=)
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.318G>C (p.Thr106=)
NM_014855.3(AP5Z1):c.324C>T (p.Asn108=) rs1307463422
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) rs1554257381
NM_014855.3(AP5Z1):c.357C>G (p.Leu119=)
NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr) rs1181668776
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val)
NM_014855.3(AP5Z1):c.366+19C>T
NM_014855.3(AP5Z1):c.378C>T (p.Asn126=) rs775332430
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.41+15C>T
NM_014855.3(AP5Z1):c.41+18C>A
NM_014855.3(AP5Z1):c.41+19C>T
NM_014855.3(AP5Z1):c.41+5G>T
NM_014855.3(AP5Z1):c.41+812_970del
NM_014855.3(AP5Z1):c.41+8_41+9del
NM_014855.3(AP5Z1):c.41+9G>A
NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=)
NM_014855.3(AP5Z1):c.438G>A (p.Glu146=)
NM_014855.3(AP5Z1):c.465C>T (p.Pro155=) rs758859483
NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile)
NM_014855.3(AP5Z1):c.480C>T (p.Val160=)
NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe)
NM_014855.3(AP5Z1):c.495G>A (p.Pro165=)
NM_014855.3(AP5Z1):c.500C>T (p.Thr167Ile)
NM_014855.3(AP5Z1):c.511+5G>A rs759729051
NM_014855.3(AP5Z1):c.511+8G>A
NM_014855.3(AP5Z1):c.511+9G>T
NM_014855.3(AP5Z1):c.512-13C>T
NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val)
NM_014855.3(AP5Z1):c.546C>T (p.Asp182=)
NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr)
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys)
NM_014855.3(AP5Z1):c.596TCT[1] (p.Phe200del) rs759357796
NM_014855.3(AP5Z1):c.612G>A (p.Arg204=)
NM_014855.3(AP5Z1):c.615C>T (p.Ala205=)
NM_014855.3(AP5Z1):c.621+11G>T
NM_014855.3(AP5Z1):c.621+18C>G
NM_014855.3(AP5Z1):c.622-7C>T rs1332740790
NM_014855.3(AP5Z1):c.628C>A (p.Pro210Thr) rs773542837
NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)
NM_014855.3(AP5Z1):c.630C>T (p.Pro210=)
NM_014855.3(AP5Z1):c.636C>G (p.Thr212=)
NM_014855.3(AP5Z1):c.652G>T (p.Val218Leu)
NM_014855.3(AP5Z1):c.670dup (p.Thr224fs)
NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)
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.699A>G (p.Thr233=) rs761636459
NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val) rs767413099
NM_014855.3(AP5Z1):c.703G>A (p.Asp235Asn)
NM_014855.3(AP5Z1):c.704del (p.Asp235fs)
NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter) rs988434253
NM_014855.3(AP5Z1):c.717C>T (p.Asn239=)
NM_014855.3(AP5Z1):c.725C>T (p.Ala242Val) rs781388706
NM_014855.3(AP5Z1):c.731C>G (p.Ser244Cys)
NM_014855.3(AP5Z1):c.732T>C (p.Ser244=)
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+10G>A rs2115109800
NM_014855.3(AP5Z1):c.791-3C>T rs1480152137
NM_014855.3(AP5Z1):c.791-5C>G
NM_014855.3(AP5Z1):c.791-6C>T
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.816C>T (p.Ser272=)
NM_014855.3(AP5Z1):c.822G>C (p.Leu274=)
NM_014855.3(AP5Z1):c.825G>A (p.Ser275=)
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.868del (p.Arg290fs) rs756556933
NM_014855.3(AP5Z1):c.873G>A (p.Glu291=)
NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter)
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His)
NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu)
NM_014855.3(AP5Z1):c.927C>T (p.Asn309=)
NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro)
NM_014855.3(AP5Z1):c.931+15del
NM_014855.3(AP5Z1):c.931+1G>A rs1583232513
NM_014855.3(AP5Z1):c.932-12C>T
NM_014855.3(AP5Z1):c.932-19C>G
NM_014855.3(AP5Z1):c.932-19C>T
NM_014855.3(AP5Z1):c.932-7C>A
NM_014855.3(AP5Z1):c.936C>G (p.Ala312=)
NM_014855.3(AP5Z1):c.950dup (p.Asp317fs)
NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala)
NM_014855.3(AP5Z1):c.954C>T (p.Ser318=)
NM_014855.3(AP5Z1):c.955G>A (p.Asp319Asn)
NM_014855.3(AP5Z1):c.960G>C (p.Leu320=)
NM_014855.3(AP5Z1):c.969+14G>A
NM_014855.3(AP5Z1):c.969+17C>T
NM_014855.3(AP5Z1):c.969+18A>G
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014855.3(AP5Z1):c.970-13C>G
NM_014855.3(AP5Z1):c.970-1G>A
NM_014855.3(AP5Z1):c.970-2A>G
NM_014855.3(AP5Z1):c.970-2_983del rs1562408256
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.984C>G (p.Ala328=) rs763042987
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)
NM_014855.3(AP5Z1):c.988C>T (p.Leu330=) rs376680652
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)

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