ClinVar Miner

List of variants in gene COPA reported as likely benign for hereditary disorder of connective tissue

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 427
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HGVS dbSNP gnomAD frequency
NM_004371.4(COPA):c.1076+13T>A rs149521115 0.00611
NM_004371.4(COPA):c.2483G>A (p.Gly828Glu) rs144241395 0.00090
NM_004371.4(COPA):c.763G>A (p.Ala255Thr) rs138359166 0.00064
NM_004371.4(COPA):c.2683T>G (p.Ser895Ala) rs139398871 0.00033
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) rs143115096 0.00032
NM_004371.4(COPA):c.2420A>C (p.Asn807Thr) rs199630217 0.00029
NM_004371.4(COPA):c.3184G>T (p.Val1062Leu) rs138625189 0.00024
NM_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_004371.4(COPA):c.2655T>C (p.Asp885=) rs139605934 0.00019
NM_004371.4(COPA):c.399G>A (p.Gly133=) rs142221638 0.00019
NM_004371.4(COPA):c.1667+9A>G rs375429812 0.00018
NM_004371.4(COPA):c.1667+13T>C rs142399844 0.00016
NM_004371.4(COPA):c.1077-16C>G rs201918201 0.00014
NM_004371.4(COPA):c.3147+16C>T rs576052309 0.00014
NM_004371.4(COPA):c.155-19T>C rs202155952 0.00012
NM_004371.4(COPA):c.1292G>A (p.Arg431Gln) rs199634303 0.00011
NM_004371.4(COPA):c.2754+15A>G rs369096293 0.00011
NM_004371.4(COPA):c.2749A>G (p.Thr917Ala) rs751116790 0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_004371.4(COPA):c.1977+12A>G rs377517481 0.00008
NM_004371.4(COPA):c.2566+6A>G rs182598190 0.00008
NM_004371.4(COPA):c.34G>A (p.Val12Ile) rs201864262 0.00008
NM_004371.4(COPA):c.1205C>T (p.Ser402Phe) rs200604416 0.00007
NM_004371.4(COPA):c.497-14T>C rs758856725 0.00007
NM_004371.4(COPA):c.1076+8G>A rs758287640 0.00006
NM_004371.4(COPA):c.2015A>T (p.Asn672Ile) rs147312908 0.00006
NM_004371.4(COPA):c.2889C>T (p.Tyr963=) rs201477148 0.00006
NM_004371.4(COPA):c.3195C>T (p.Ser1065=) rs756147600 0.00006
NM_004371.4(COPA):c.3420+16T>G rs370631804 0.00006
NM_004371.4(COPA):c.435C>T (p.Pro145=) rs906358012 0.00006
NM_004371.4(COPA):c.706+11C>T rs769782129 0.00006
NM_004371.4(COPA):c.753T>C (p.Asn251=) rs374078706 0.00006
NM_004371.4(COPA):c.1219+16G>A rs372325156 0.00005
NM_004371.4(COPA):c.1388A>G (p.Asn463Ser) rs766188508 0.00005
NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu) rs369330981 0.00005
NM_004371.4(COPA):c.3421-11C>G rs540654667 0.00005
NM_004371.4(COPA):c.3483C>T (p.Asp1161=) rs376400505 0.00005
NM_004371.4(COPA):c.1480G>A (p.Val494Ile) rs750319602 0.00004
NM_004371.4(COPA):c.1714C>T (p.Arg572Trp) rs777038735 0.00004
NM_004371.4(COPA):c.1992A>C (p.Ala664=) rs139463368 0.00004
NM_004371.4(COPA):c.264A>G (p.Thr88=) rs751570700 0.00004
NM_004371.4(COPA):c.2754+7G>A rs750013875 0.00004
NM_004371.4(COPA):c.2960+19T>G rs769851527 0.00004
NM_004371.4(COPA):c.2961-7T>C rs758277547 0.00004
NM_004371.4(COPA):c.3423C>T (p.Thr1141=) rs776753399 0.00004
NM_004371.4(COPA):c.387-19T>C rs756312977 0.00004
NM_004371.4(COPA):c.706+18A>G rs371634008 0.00004
NM_004371.4(COPA):c.926-15C>T rs776843863 0.00004
NM_004371.4(COPA):c.1407G>A (p.Ala469=) rs776931982 0.00003
NM_004371.4(COPA):c.1944C>G (p.Arg648=) rs370936027 0.00003
NM_004371.4(COPA):c.2240G>A (p.Arg747Gln) rs759567454 0.00003
NM_004371.4(COPA):c.2316G>A (p.Glu772=) rs1302833444 0.00003
NM_004371.4(COPA):c.2567-13A>G rs770890116 0.00003
NM_004371.4(COPA):c.2712T>C (p.Asp904=) rs375099053 0.00003
NM_004371.4(COPA):c.2823+15C>T rs748443010 0.00003
NM_004371.4(COPA):c.3147+17G>A rs764093655 0.00003
NM_004371.4(COPA):c.3281C>T (p.Ser1094Leu) rs763192047 0.00003
NM_004371.4(COPA):c.3533G>A (p.Arg1178His) rs373521245 0.00003
NM_004371.4(COPA):c.396A>G (p.Thr132=) rs994912702 0.00003
NM_004371.4(COPA):c.820C>A (p.Arg274=) rs764849788 0.00003
NM_004371.4(COPA):c.971C>T (p.Pro324Leu) rs569042047 0.00003
NM_004371.4(COPA):c.1164T>C (p.Asn388=) rs368519186 0.00002
NM_004371.4(COPA):c.1316A>G (p.Asn439Ser) rs150468408 0.00002
NM_004371.4(COPA):c.1491A>G (p.Ser497=) rs1047288998 0.00002
NM_004371.4(COPA):c.1668-19C>T rs529400709 0.00002
NM_004371.4(COPA):c.1978-19G>A rs770019968 0.00002
NM_004371.4(COPA):c.2211A>G (p.Leu737=) rs756897477 0.00002
NM_004371.4(COPA):c.2263+12A>C rs748204379 0.00002
NM_004371.4(COPA):c.2515A>T (p.Thr839Ser) rs745391240 0.00002
NM_004371.4(COPA):c.2519T>C (p.Val840Ala) rs778952692 0.00002
NM_004371.4(COPA):c.2551C>T (p.Leu851=) rs997140060 0.00002
NM_004371.4(COPA):c.2580G>A (p.Glu860=) rs747963957 0.00002
NM_004371.4(COPA):c.2681T>C (p.Ile894Thr) rs575105119 0.00002
NM_004371.4(COPA):c.2690G>A (p.Gly897Glu) rs201089543 0.00002
NM_004371.4(COPA):c.2775G>A (p.Gln925=) rs761577917 0.00002
NM_004371.4(COPA):c.336C>T (p.Ser112=) rs188665868 0.00002
NM_004371.4(COPA):c.3465C>T (p.Ala1155=) rs746436312 0.00002
NM_004371.4(COPA):c.603A>G (p.Leu201=) rs773046847 0.00002
NM_004371.4(COPA):c.66T>C (p.Pro22=) rs749278884 0.00002
NM_004371.4(COPA):c.765C>T (p.Ala255=) rs774521461 0.00002
NM_004371.4(COPA):c.1076+7C>T rs761055069 0.00001
NM_004371.4(COPA):c.1146A>G (p.Arg382=) rs1422572454 0.00001
NM_004371.4(COPA):c.1220-16G>C rs1658818899 0.00001
NM_004371.4(COPA):c.1302+10G>A rs899725019 0.00001
NM_004371.4(COPA):c.1322A>G (p.Lys441Arg) rs755754729 0.00001
NM_004371.4(COPA):c.1400G>A (p.Arg467Gln) rs773125884 0.00001
NM_004371.4(COPA):c.1443-5C>T rs1293350299 0.00001
NM_004371.4(COPA):c.1586G>A (p.Arg529His) rs755234198 0.00001
NM_004371.4(COPA):c.1618G>A (p.Val540Ile) rs779383710 0.00001
NM_004371.4(COPA):c.1657G>A (p.Val553Ile) rs76641602 0.00001
NM_004371.4(COPA):c.1680C>T (p.Ile560=) rs1319923647 0.00001
NM_004371.4(COPA):c.1757G>A (p.Arg586His) rs145861956 0.00001
NM_004371.4(COPA):c.1938A>G (p.Lys646=) rs776498850 0.00001
NM_004371.4(COPA):c.198C>T (p.Phe66=) rs1483173224 0.00001
NM_004371.4(COPA):c.2263+11G>A rs770169162 0.00001
NM_004371.4(COPA):c.228+10G>T rs541883856 0.00001
NM_004371.4(COPA):c.228+18T>G rs1431145451 0.00001
NM_004371.4(COPA):c.229-13T>C rs1001294693 0.00001
NM_004371.4(COPA):c.2367C>A (p.Asp789Glu) rs765186480 0.00001
NM_004371.4(COPA):c.2373T>G (p.Asn791Lys) rs1214197748 0.00001
NM_004371.4(COPA):c.2379G>C (p.Lys793Asn) rs145664652 0.00001
NM_004371.4(COPA):c.2493G>A (p.Leu831=) rs1279004438 0.00001
NM_004371.4(COPA):c.2503A>G (p.Ile835Val) rs775283020 0.00001
NM_004371.4(COPA):c.251G>A (p.Arg84His) rs1252870201 0.00001
NM_004371.4(COPA):c.2557T>C (p.Leu853=) rs755004879 0.00001
NM_004371.4(COPA):c.2566+11T>C rs370504756 0.00001
NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) rs764620128 0.00001
NM_004371.4(COPA):c.2808C>T (p.Phe936=) rs760354732 0.00001
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) rs552778606 0.00001
NM_004371.4(COPA):c.2824-10T>C rs368409747 0.00001
NM_004371.4(COPA):c.2890G>A (p.Ala964Thr) rs781560092 0.00001
NM_004371.4(COPA):c.2961-15C>T rs751391110 0.00001
NM_004371.4(COPA):c.296C>T (p.Thr99Met) rs765391058 0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val) rs761919408 0.00001
NM_004371.4(COPA):c.309+14G>T rs776134249 0.00001
NM_004371.4(COPA):c.312A>G (p.Glu104=) rs757452633 0.00001
NM_004371.4(COPA):c.3140T>C (p.Ile1047Thr) rs780158500 0.00001
NM_004371.4(COPA):c.3147+14G>C rs374900234 0.00001
NM_004371.4(COPA):c.3332T>G (p.Leu1111Arg) rs759108773 0.00001
NM_004371.4(COPA):c.3396G>T (p.Gly1132=) rs1557859300 0.00001
NM_004371.4(COPA):c.3420+9A>C rs1386437476 0.00001
NM_004371.4(COPA):c.3433C>T (p.Leu1145=) rs747075563 0.00001
NM_004371.4(COPA):c.386+20G>A rs774834775 0.00001
NM_004371.4(COPA):c.528G>A (p.Ala176=) rs760365945 0.00001
NM_004371.4(COPA):c.567A>G (p.Leu189=) rs1380264793 0.00001
NM_004371.4(COPA):c.612C>T (p.His204=) rs988192269 0.00001
NM_004371.4(COPA):c.6A>G (p.Leu2=) rs945664160 0.00001
NM_004371.4(COPA):c.717A>T (p.Ala239=) rs751279338 0.00001
NM_004371.4(COPA):c.816T>C (p.Ser272=) rs1037485892 0.00001
NM_004371.4(COPA):c.842+16G>C rs1490882090 0.00001
NM_004371.4(COPA):c.858T>C (p.Thr286=) rs545516258 0.00001
NM_004371.4(COPA):c.873T>C (p.His291=) rs967404182 0.00001
NM_004371.4(COPA):c.894T>C (p.Ala298=) rs1251965012 0.00001
NM_004371.4(COPA):c.99C>T (p.Ile33=) rs781526871 0.00001
NM_004371.4(COPA):c.1015C>A (p.Arg339=)
NM_004371.4(COPA):c.1030C>T (p.Leu344=)
NM_004371.4(COPA):c.1047C>T (p.Ser349=) rs1571163670
NM_004371.4(COPA):c.1072C>A (p.Arg358=)
NM_004371.4(COPA):c.1073G>T (p.Arg358Leu)
NM_004371.4(COPA):c.1076+10A>G
NM_004371.4(COPA):c.1076+12T>G
NM_004371.4(COPA):c.1076+17T>G
NM_004371.4(COPA):c.1076+18C>G
NM_004371.4(COPA):c.1077-12A>G
NM_004371.4(COPA):c.1077-8A>G
NM_004371.4(COPA):c.1128A>T (p.Ala376=)
NM_004371.4(COPA):c.1134G>A (p.Leu378=)
NM_004371.4(COPA):c.1134G>C (p.Leu378=)
NM_004371.4(COPA):c.1137T>A (p.Leu379=)
NM_004371.4(COPA):c.1143+10C>A
NM_004371.4(COPA):c.1143+13T>C
NM_004371.4(COPA):c.1144-14C>T
NM_004371.4(COPA):c.1144-16C>G
NM_004371.4(COPA):c.1149T>C (p.Ala383=) rs2101840871
NM_004371.4(COPA):c.115C>A (p.Arg39=)
NM_004371.4(COPA):c.116G>A (p.Arg39Gln)
NM_004371.4(COPA):c.1182C>T (p.Tyr394=)
NM_004371.4(COPA):c.1197T>C (p.Asp399=)
NM_004371.4(COPA):c.1219+16G>C rs372325156
NM_004371.4(COPA):c.1219+7G>C rs926437946
NM_004371.4(COPA):c.1220-17G>C
NM_004371.4(COPA):c.1220-8C>T
NM_004371.4(COPA):c.1221G>A (p.Ala407=)
NM_004371.4(COPA):c.1230G>A (p.Gly410=)
NM_004371.4(COPA):c.123C>T (p.Cys41=)
NM_004371.4(COPA):c.1245C>A (p.Gly415=)
NM_004371.4(COPA):c.1254C>T (p.Ala418=)
NM_004371.4(COPA):c.1263C>T (p.Val421=)
NM_004371.4(COPA):c.126T>C (p.Thr42=)
NM_004371.4(COPA):c.1274G>A (p.Arg425Gln)
NM_004371.4(COPA):c.1284C>G (p.Val428=)
NM_004371.4(COPA):c.1293G>T (p.Arg431=)
NM_004371.4(COPA):c.1302+12C>T rs2101838492
NM_004371.4(COPA):c.1302+13T>C
NM_004371.4(COPA):c.1303-12T>C
NM_004371.4(COPA):c.1303-15T>G
NM_004371.4(COPA):c.1303-6T>C rs746190329
NM_004371.4(COPA):c.1332C>T (p.Ile444=) rs2101837742
NM_004371.4(COPA):c.1356C>T (p.Asn452=)
NM_004371.4(COPA):c.1365G>A (p.Glu455=)
NM_004371.4(COPA):c.1368C>T (p.Ile456=)
NM_004371.4(COPA):c.1374T>C (p.Tyr458=)
NM_004371.4(COPA):c.138G>A (p.Lys46=)
NM_004371.4(COPA):c.1392C>T (p.Leu464=)
NM_004371.4(COPA):c.1413T>C (p.Ser471=)
NM_004371.4(COPA):c.1414A>G (p.Ile472Val)
NM_004371.4(COPA):c.1442+8A>G
NM_004371.4(COPA):c.1442+8A>T rs754430732
NM_004371.4(COPA):c.1443-16T>A
NM_004371.4(COPA):c.1443-17A>G
NM_004371.4(COPA):c.1443-4T>C rs1571158699
NM_004371.4(COPA):c.1443-7_1443-4del
NM_004371.4(COPA):c.1467T>A (p.Ser489=) rs1045509598
NM_004371.4(COPA):c.1479C>T (p.Tyr493=) rs1299072491
NM_004371.4(COPA):c.1533T>A (p.Ile511=)
NM_004371.4(COPA):c.154+19del
NM_004371.4(COPA):c.1558G>A (p.Ala520Thr)
NM_004371.4(COPA):c.1563A>T (p.Leu521Phe) rs187547429
NM_004371.4(COPA):c.1575T>C (p.His525=)
NM_004371.4(COPA):c.1600G>T (p.Ala534Ser)
NM_004371.4(COPA):c.1629T>C (p.Tyr543=)
NM_004371.4(COPA):c.1662C>T (p.Thr554=) rs1253636443
NM_004371.4(COPA):c.1665T>G (p.Thr555=)
NM_004371.4(COPA):c.1667+19A>C rs2101836380
NM_004371.4(COPA):c.1667+7T>A
NM_004371.4(COPA):c.1668-17G>C
NM_004371.4(COPA):c.1668-20G>A rs2101829613
NM_004371.4(COPA):c.1668-5C>A
NM_004371.4(COPA):c.1674C>A (p.His558Gln)
NM_004371.4(COPA):c.1674C>T (p.His558=) rs758422851
NM_004371.4(COPA):c.1704C>A (p.Ile568=)
NM_004371.4(COPA):c.1710C>T (p.Val570=)
NM_004371.4(COPA):c.174C>T (p.Asp58=) rs2101880218
NM_004371.4(COPA):c.1756C>T (p.Arg586Cys)
NM_004371.4(COPA):c.1809G>T (p.Leu603=) rs375445896
NM_004371.4(COPA):c.1826A>T (p.Asp609Val)
NM_004371.4(COPA):c.1830+15T>C
NM_004371.4(COPA):c.1831-17C>A
NM_004371.4(COPA):c.1860A>G (p.Leu620=)
NM_004371.4(COPA):c.1860A>T (p.Leu620=) rs2101829145
NM_004371.4(COPA):c.1896G>A (p.Lys632=)
NM_004371.4(COPA):c.1977+10A>G
NM_004371.4(COPA):c.1977+18A>T
NM_004371.4(COPA):c.1978-17C>T rs775260404
NM_004371.4(COPA):c.1978-19G>T rs770019968
NM_004371.4(COPA):c.1978-19_1978-18insGTTA rs759114176
NM_004371.4(COPA):c.1997A>G (p.Lys666Arg)
NM_004371.4(COPA):c.2013G>A (p.Lys671=)
NM_004371.4(COPA):c.2031G>C (p.Leu677=) rs778053084
NM_004371.4(COPA):c.2043C>T (p.Ala681=) rs2101827768
NM_004371.4(COPA):c.2049G>A (p.Leu683=)
NM_004371.4(COPA):c.2055G>C (p.Gly685=)
NM_004371.4(COPA):c.2070G>A (p.Val690=)
NM_004371.4(COPA):c.2073A>G (p.Glu691=)
NM_004371.4(COPA):c.2112C>T (p.Ser704=)
NM_004371.4(COPA):c.2116C>T (p.Leu706=) rs2101827699
NM_004371.4(COPA):c.2167+13A>G
NM_004371.4(COPA):c.2168-10C>T
NM_004371.4(COPA):c.2168-11A>G
NM_004371.4(COPA):c.2168-15T>C
NM_004371.4(COPA):c.2168-20G>T
NM_004371.4(COPA):c.2190T>C (p.Ser730=)
NM_004371.4(COPA):c.2206G>T (p.Ala736Ser)
NM_004371.4(COPA):c.2208C>G (p.Ala736=) rs2101827451
NM_004371.4(COPA):c.2214C>T (p.Tyr738=)
NM_004371.4(COPA):c.2239C>A (p.Arg747=)
NM_004371.4(COPA):c.2239C>T (p.Arg747Trp)
NM_004371.4(COPA):c.2241G>A (p.Arg747=)
NM_004371.4(COPA):c.2250G>A (p.Lys750=)
NM_004371.4(COPA):c.2256T>C (p.Cys752=)
NM_004371.4(COPA):c.2263+11G>C
NM_004371.4(COPA):c.2263+15C>G
NM_004371.4(COPA):c.2264-17G>A
NM_004371.4(COPA):c.2264-4A>G rs2101826103
NM_004371.4(COPA):c.2264-8C>A
NM_004371.4(COPA):c.2268C>T (p.Ser756=) rs1571151158
NM_004371.4(COPA):c.228+11_228+12insTA rs2101880166
NM_004371.4(COPA):c.228+14G>A rs1647956444
NM_004371.4(COPA):c.228+17A>G
NM_004371.4(COPA):c.228+8G>A
NM_004371.4(COPA):c.229-10G>C rs777500215
NM_004371.4(COPA):c.2292C>G (p.Thr764=) rs2101826069
NM_004371.4(COPA):c.2301A>G (p.Leu767=) rs1377615825
NM_004371.4(COPA):c.2304T>C (p.Asp768=)
NM_004371.4(COPA):c.2314G>A (p.Glu772Lys) rs1334352247
NM_004371.4(COPA):c.2322A>C (p.Leu774=)
NM_004371.4(COPA):c.2353-11C>T
NM_004371.4(COPA):c.2353-14C>A
NM_004371.4(COPA):c.2353-20T>G rs780717019
NM_004371.4(COPA):c.2378A>G (p.Lys793Arg)
NM_004371.4(COPA):c.2379G>A (p.Lys793=)
NM_004371.4(COPA):c.2397A>G (p.Ala799=)
NM_004371.4(COPA):c.2401A>G (p.Ile801Val)
NM_004371.4(COPA):c.2410T>C (p.Leu804=)
NM_004371.4(COPA):c.2421T>C (p.Asn807=)
NM_004371.4(COPA):c.2477-11dup rs2101824686
NM_004371.4(COPA):c.2477-17G>C
NM_004371.4(COPA):c.2477-7T>A
NM_004371.4(COPA):c.2526A>G (p.Thr842=) rs1658347201
NM_004371.4(COPA):c.2541G>A (p.Glu847=)
NM_004371.4(COPA):c.2558T>C (p.Leu853Ser)
NM_004371.4(COPA):c.2559G>A (p.Leu853=) rs2101824464
NM_004371.4(COPA):c.2567-10T>G
NM_004371.4(COPA):c.2567-17T>C
NM_004371.4(COPA):c.2567-5T>C
NM_004371.4(COPA):c.2586A>G (p.Thr862=) rs2101824243
NM_004371.4(COPA):c.2587G>C (p.Glu863Gln)
NM_004371.4(COPA):c.2592T>A (p.Gly864=)
NM_004371.4(COPA):c.2619A>G (p.Gly873=) rs1335692769
NM_004371.4(COPA):c.2630G>A (p.Gly877Glu)
NM_004371.4(COPA):c.264A>T (p.Thr88=) rs751570700
NM_004371.4(COPA):c.2676+16A>T
NM_004371.4(COPA):c.2677-24_2677-18del
NM_004371.4(COPA):c.2677-9T>C
NM_004371.4(COPA):c.2692G>A (p.Ala898Thr)
NM_004371.4(COPA):c.270T>C (p.Leu90=)
NM_004371.4(COPA):c.2724G>A (p.Val908=) rs1658305564
NM_004371.4(COPA):c.2754+12G>A
NM_004371.4(COPA):c.2754+16C>A rs2101822622
NM_004371.4(COPA):c.2754+16C>T rs2101822622
NM_004371.4(COPA):c.2755-10T>A
NM_004371.4(COPA):c.2755-16_2755-13del
NM_004371.4(COPA):c.2755-25_2755-20del
NM_004371.4(COPA):c.2823+7A>G
NM_004371.4(COPA):c.2823+9C>T
NM_004371.4(COPA):c.2838A>G (p.Gln946=)
NM_004371.4(COPA):c.2877C>T (p.Phe959=) rs770192389
NM_004371.4(COPA):c.2909A>G (p.Tyr970Cys) rs199945391
NM_004371.4(COPA):c.2919G>C (p.Leu973=)
NM_004371.4(COPA):c.2961-18C>A
NM_004371.4(COPA):c.2961-8C>T rs2101820993
NM_004371.4(COPA):c.3006G>A (p.Lys1002=) rs1416745317
NM_004371.4(COPA):c.3027G>A (p.Arg1009=) rs1658258456
NM_004371.4(COPA):c.3054A>G (p.Thr1018=)
NM_004371.4(COPA):c.3080A>G (p.Glu1027Gly)
NM_004371.4(COPA):c.3087C>T (p.Phe1029=)
NM_004371.4(COPA):c.309+18C>T
NM_004371.4(COPA):c.309+9T>A
NM_004371.4(COPA):c.3093C>T (p.Ser1031=)
NM_004371.4(COPA):c.3147+11C>G
NM_004371.4(COPA):c.3147+20G>A
NM_004371.4(COPA):c.3147+9G>A
NM_004371.4(COPA):c.3147+9G>T rs1571147645
NM_004371.4(COPA):c.3148-9C>A rs1658248308
NM_004371.4(COPA):c.3190T>C (p.Leu1064=)
NM_004371.4(COPA):c.3195C>G (p.Ser1065=) rs756147600
NM_004371.4(COPA):c.3196G>T (p.Val1066Leu) rs767991810
NM_004371.4(COPA):c.3231T>C (p.Thr1077=)
NM_004371.4(COPA):c.3248G>A (p.Arg1083His) rs141211632
NM_004371.4(COPA):c.3248G>T (p.Arg1083Leu) rs141211632
NM_004371.4(COPA):c.3258+11T>C
NM_004371.4(COPA):c.3258+12A>G rs1396586263
NM_004371.4(COPA):c.3258+7T>C
NM_004371.4(COPA):c.3259-11C>T
NM_004371.4(COPA):c.3259-8T>A
NM_004371.4(COPA):c.3324C>T (p.Ala1108=) rs1658227004
NM_004371.4(COPA):c.333C>T (p.Ala111=)
NM_004371.4(COPA):c.3369C>G (p.Thr1123=)
NM_004371.4(COPA):c.3384A>G (p.Leu1128=) rs960224179
NM_004371.4(COPA):c.3393C>T (p.Leu1131=)
NM_004371.4(COPA):c.339T>C (p.Asp113=)
NM_004371.4(COPA):c.3402G>A (p.Lys1134=)
NM_004371.4(COPA):c.3413C>T (p.Ala1138Val)
NM_004371.4(COPA):c.3420+11C>T rs2101819641
NM_004371.4(COPA):c.3420+12T>C
NM_004371.4(COPA):c.3420+14C>T rs2101819626
NM_004371.4(COPA):c.3420+15T>C
NM_004371.4(COPA):c.3420+9A>T
NM_004371.4(COPA):c.3421-17C>T rs769632251
NM_004371.4(COPA):c.3421-5C>T rs925092668
NM_004371.4(COPA):c.3421-6C>T rs2101818690
NM_004371.4(COPA):c.3435G>A (p.Leu1145=) rs2101818653
NM_004371.4(COPA):c.3458C>T (p.Thr1153Ile) rs760894494
NM_004371.4(COPA):c.3493C>T (p.Pro1165Ser)
NM_004371.4(COPA):c.3495C>G (p.Pro1165=) rs2101818577
NM_004371.4(COPA):c.3501C>T (p.Asp1167=)
NM_004371.4(COPA):c.3511G>A (p.Ala1171Thr) rs776432073
NM_004371.4(COPA):c.3516A>G (p.Ser1172=)
NM_004371.4(COPA):c.354A>T (p.Arg118=)
NM_004371.4(COPA):c.3558A>C (p.Pro1186=)
NM_004371.4(COPA):c.3615+10_3615+11delinsTC rs2101818310
NM_004371.4(COPA):c.3615+9T>C rs1028533477
NM_004371.4(COPA):c.3616-12_3616-9del
NM_004371.4(COPA):c.3616-20C>T rs369317260
NM_004371.4(COPA):c.3616-8T>C
NM_004371.4(COPA):c.3663G>A (p.Leu1221=) rs2101817741
NM_004371.4(COPA):c.3671G>A (p.Arg1224His)
NM_004371.4(COPA):c.387-10T>C
NM_004371.4(COPA):c.390G>A (p.Val130=) rs1028652764
NM_004371.4(COPA):c.40+10A>G rs894066716
NM_004371.4(COPA):c.40+11A>G
NM_004371.4(COPA):c.40+17G>A rs7555490
NM_004371.4(COPA):c.41-11A>G rs530698139
NM_004371.4(COPA):c.41-11A>T
NM_004371.4(COPA):c.41-13C>G
NM_004371.4(COPA):c.411T>C (p.Tyr137=)
NM_004371.4(COPA):c.480C>A (p.Arg160=)
NM_004371.4(COPA):c.480C>T (p.Arg160=) rs369092759
NM_004371.4(COPA):c.48C>T (p.Ser16=)
NM_004371.4(COPA):c.496+14G>A
NM_004371.4(COPA):c.496+4_496+7dup
NM_004371.4(COPA):c.496+8G>T rs1229778371
NM_004371.4(COPA):c.497-15_497-13del
NM_004371.4(COPA):c.497-18C>T
NM_004371.4(COPA):c.497-8C>T
NM_004371.4(COPA):c.514C>T (p.Leu172=)
NM_004371.4(COPA):c.531G>A (p.Val177=) rs1659465313
NM_004371.4(COPA):c.540T>C (p.Asp180=)
NM_004371.4(COPA):c.585A>T (p.Ala195=)
NM_004371.4(COPA):c.597T>C (p.His199=) rs2101863080
NM_004371.4(COPA):c.606+12T>A
NM_004371.4(COPA):c.606+17C>A rs2101863056
NM_004371.4(COPA):c.607-11C>T
NM_004371.4(COPA):c.607-16C>T
NM_004371.4(COPA):c.607-5T>C rs1167456164
NM_004371.4(COPA):c.607-8_607-7del rs1553206195
NM_004371.4(COPA):c.609T>G (p.Gly203=) rs1659399158
NM_004371.4(COPA):c.657T>G (p.Leu219=) rs1571174206
NM_004371.4(COPA):c.660T>C (p.Ile220=) rs1571174198
NM_004371.4(COPA):c.663A>G (p.Val221=) rs762943238
NM_004371.4(COPA):c.690G>A (p.Lys230=) rs864309710
NM_004371.4(COPA):c.706+12G>A rs1469584340
NM_004371.4(COPA):c.706+13G>A
NM_004371.4(COPA):c.707-11T>C
NM_004371.4(COPA):c.707-15C>A
NM_004371.4(COPA):c.707-15C>G rs1228231634
NM_004371.4(COPA):c.707-6C>A
NM_004371.4(COPA):c.707-6C>T
NM_004371.4(COPA):c.72C>A (p.Ile24=)
NM_004371.4(COPA):c.766G>A (p.Val256Ile) rs143714109
NM_004371.4(COPA):c.780C>T (p.Arg260=) rs1323202872
NM_004371.4(COPA):c.787T>C (p.Leu263=)
NM_004371.4(COPA):c.792C>T (p.Ile264=)
NM_004371.4(COPA):c.804T>G (p.Ser268=)
NM_004371.4(COPA):c.842+10T>C
NM_004371.4(COPA):c.843-13G>A
NM_004371.4(COPA):c.843-15G>C rs2101846009
NM_004371.4(COPA):c.843-4C>T
NM_004371.4(COPA):c.843-5T>C
NM_004371.4(COPA):c.918T>C (p.Phe306=)
NM_004371.4(COPA):c.925+7G>A
NM_004371.4(COPA):c.926-17C>T
NM_004371.4(COPA):c.926-6C>T
NM_004371.4(COPA):c.926-6_926-5insCGA rs1376174746
NM_004371.4(COPA):c.926-7C>T
NM_004371.4(COPA):c.984T>A (p.Val328=)
NM_004371.4(COPA):c.993T>C (p.Asn331=) rs2101844438

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