ClinVar Miner

List of variants in gene PCCA studied for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1223
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_000282.4(PCCA):c.1845+10585T>C rs2760311 0.35905
NM_000282.4(PCCA):c.106-93G>A rs2184382 0.22830
NM_000282.4(PCCA):c.414+88A>G rs9585365 0.16939
NM_000282.4(PCCA):c.468+51G>A rs35055557 0.16099
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.637+102A>G rs539158 0.14245
NM_000282.4(PCCA):c.1846-104C>G rs1283292 0.12185
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_000282.4(PCCA):c.606A>G (p.Ala202=) rs140082586 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000282.4(PCCA):c.965C>T (p.Ala322Val) rs143527709 0.00022
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro) rs143096615 0.00021
NM_000282.4(PCCA):c.415-10C>T rs376120578 0.00020
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015 0.00019
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000282.4(PCCA):c.382A>G (p.Met128Val) rs144201462 0.00017
NM_000282.3(PCCA):c.-60C>T rs778039561 0.00014
NM_000282.4(PCCA):c.231+16G>A rs562491059 0.00014
NM_000282.4(PCCA):c.914+10C>G rs774298513 0.00014
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957 0.00013
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.1519G>A (p.Val507Met) rs146061036 0.00010
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856 0.00010
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373 0.00010
NM_000282.4(PCCA):c.468+11A>C rs187554010 0.00010
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202 0.00009
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917 0.00009
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln) rs187346936 0.00008
NM_000282.4(PCCA):c.1540+20T>C rs754203055 0.00008
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile) rs201570336 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.638-10C>T rs763390049 0.00008
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638 0.00006
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791 0.00006
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273 0.00006
NM_000282.4(PCCA):c.1900-15T>G rs769815745 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000282.4(PCCA):c.483C>T (p.Val161=) rs370402818 0.00006
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346 0.00006
NM_000282.4(PCCA):c.716+19T>C rs201320992 0.00006
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg) rs192543675 0.00005
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu) rs532947142 0.00004
NM_000282.4(PCCA):c.184-6C>T rs542777393 0.00004
NM_000282.4(PCCA):c.2025C>G (p.Val675=) rs891946343 0.00004
NM_000282.4(PCCA):c.2040+11T>C rs200641726 0.00004
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr) rs376535469 0.00004
NM_000282.4(PCCA):c.327T>C (p.Ala109=) rs764005205 0.00004
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000282.4(PCCA):c.768T>C (p.Asp256=) rs1239656926 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr) rs759223615 0.00004
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg) rs905391740 0.00003
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690 0.00003
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln) rs183239835 0.00003
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582 0.00003
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser) rs887791543 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 0.00003
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys) rs145428347 0.00003
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys) rs200710812 0.00003
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844 0.00003
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208 0.00003
NM_000282.4(PCCA):c.414+19A>G rs531469612 0.00003
NM_000282.4(PCCA):c.415-9A>G rs1057520932 0.00003
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu) rs773397570 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000282.4(PCCA):c.915-18A>T rs780272314 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000282.4(PCCA):c.1275T>G (p.His425Gln) rs548833871 0.00002
NM_000282.4(PCCA):c.1285-4C>T rs372262089 0.00002
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp) rs776355907 0.00002
NM_000282.4(PCCA):c.146G>A (p.Arg49His) rs570674073 0.00002
NM_000282.4(PCCA):c.1540+11A>G rs374671328 0.00002
NM_000282.4(PCCA):c.1693T>C (p.Leu565=) rs767365284 0.00002
NM_000282.4(PCCA):c.1747-8dup rs753595587 0.00002
NM_000282.4(PCCA):c.183+18A>G rs746021444 0.00002
NM_000282.4(PCCA):c.1988G>A (p.Arg663His) rs780042764 0.00002
NM_000282.4(PCCA):c.2112T>C (p.Thr704=) rs765451633 0.00002
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile) rs548026367 0.00002
NM_000282.4(PCCA):c.232-1G>A rs794727620 0.00002
NM_000282.4(PCCA):c.318G>A (p.Ala106=) rs752769607 0.00002
NM_000282.4(PCCA):c.469-6C>T rs1411689584 0.00002
NM_000282.4(PCCA):c.50G>A (p.Arg17His) rs768914819 0.00002
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn) rs1047690554 0.00002
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108 0.00002
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser) rs369743452 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 0.00002
NM_000282.4(PCCA):c.689G>A (p.Arg230His) rs747943045 0.00002
NM_000282.4(PCCA):c.717-4A>G rs1046922650 0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr) rs773749632 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu) rs750840362 0.00002
NM_000282.4(PCCA):c.105+16G>A rs2046038909 0.00001
NM_000282.4(PCCA):c.106-10T>C rs770940740 0.00001
NM_000282.4(PCCA):c.1065+10A>G rs1428223017 0.00001
NM_000282.4(PCCA):c.1065+12T>A rs1013549378 0.00001
NM_000282.4(PCCA):c.1065+15T>C rs762540382 0.00001
NM_000282.4(PCCA):c.1066-13C>T rs372186963 0.00001
NM_000282.4(PCCA):c.1071G>A (p.Glu357=) rs761295534 0.00001
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571 0.00001
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg) rs752995083 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys) rs758588772 0.00001
NM_000282.4(PCCA):c.1124G>A (p.Arg375His) rs778042583 0.00001
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter) rs1165198558 0.00001
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788 0.00001
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln) rs1301904623 0.00001
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys) rs981962098 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1269G>A (p.Pro423=) rs778642206 0.00001
NM_000282.4(PCCA):c.1284+17T>G rs531058073 0.00001
NM_000282.4(PCCA):c.1285-10T>C rs1186262441 0.00001
NM_000282.4(PCCA):c.1285-15C>T rs779554504 0.00001
NM_000282.4(PCCA):c.1285-20T>C rs1227568974 0.00001
NM_000282.4(PCCA):c.1285-5C>T rs773331326 0.00001
NM_000282.4(PCCA):c.1291G>A (p.Val431Met) rs1464775522 0.00001
NM_000282.4(PCCA):c.12C>T (p.Phe4=) rs759257021 0.00001
NM_000282.4(PCCA):c.1326C>T (p.Ser442=) rs934310912 0.00001
NM_000282.4(PCCA):c.1353+16C>T rs573543059 0.00001
NM_000282.4(PCCA):c.1353+18A>G rs369105635 0.00001
NM_000282.4(PCCA):c.1354-10T>C rs750041912 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636 0.00001
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr) rs1349455848 0.00001
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys) rs753955254 0.00001
NM_000282.4(PCCA):c.1518T>C (p.Asp506=) rs1214787896 0.00001
NM_000282.4(PCCA):c.1540+15A>C rs372830595 0.00001
NM_000282.4(PCCA):c.1540+1G>C rs199604072 0.00001
NM_000282.4(PCCA):c.1540+5G>C rs371430625 0.00001
NM_000282.4(PCCA):c.1541-15A>G rs748759552 0.00001
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp) rs755553674 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly) rs2071094349 0.00001
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile) rs759831592 0.00001
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477 0.00001
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu) rs755890592 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr) rs2079091190 0.00001
NM_000282.4(PCCA):c.1764G>A (p.Ser588=) rs772158996 0.00001
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys) rs778065877 0.00001
NM_000282.4(PCCA):c.1785G>A (p.Thr595=) rs766312551 0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862 0.00001
NM_000282.4(PCCA):c.1800G>A (p.Ser600=) rs761681712 0.00001
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser) rs752459931 0.00001
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser) rs1427313509 0.00001
NM_000282.4(PCCA):c.180A>G (p.Glu60=) rs1003935202 0.00001
NM_000282.4(PCCA):c.1818C>T (p.Ser606=) rs763647197 0.00001
NM_000282.4(PCCA):c.1824T>C (p.Asp608=) rs1008553303 0.00001
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser) rs749767976 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000282.4(PCCA):c.184-5T>C rs780230606 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val) rs1163083290 0.00001
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys) rs1400179119 0.00001
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser) rs796052018 0.00001
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala) rs376313696 0.00001
NM_000282.4(PCCA):c.1899+7A>G rs950344042 0.00001
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser) rs149772960 0.00001
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp) rs891469566 0.00001
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn) rs764651081 0.00001
NM_000282.4(PCCA):c.1995G>A (p.Pro665=) rs1357780167 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2010G>A (p.Val670=) rs1343608733 0.00001
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176 0.00001
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr) rs201570489 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966 0.00001
NM_000282.4(PCCA):c.2118+10T>C rs1318351775 0.00001
NM_000282.4(PCCA):c.2119-5T>G rs752895575 0.00001
NM_000282.4(PCCA):c.2119-9A>G rs1389933015 0.00001
NM_000282.4(PCCA):c.2136T>C (p.Cys712=) rs781085655 0.00001
NM_000282.4(PCCA):c.2173G>A (p.Val725Met) rs747593363 0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000282.4(PCCA):c.231+8G>A rs199996461 0.00001
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg) rs1203679401 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000282.4(PCCA):c.30G>T (p.Pro10=) rs1206173421 0.00001
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr) rs1482878054 0.00001
NM_000282.4(PCCA):c.405G>A (p.Arg135=) rs996873957 0.00001
NM_000282.4(PCCA):c.414+7C>G rs1051098122 0.00001
NM_000282.4(PCCA):c.415-2A>C rs746286209 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) rs2053984648 0.00001
NM_000282.4(PCCA):c.453A>G (p.Glu151=) rs897110640 0.00001
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser) rs772068496 0.00001
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser) rs773032396 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 0.00001
NM_000282.4(PCCA):c.570T>C (p.Asn190=) rs747026505 0.00001
NM_000282.4(PCCA):c.601-13C>T rs1367838556 0.00001
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu) rs1367928921 0.00001
NM_000282.4(PCCA):c.637+18C>A rs758676556 0.00001
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn) rs749118295 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro) rs1566436392 0.00001
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly) rs760244758 0.00001
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys) rs770371734 0.00001
NM_000282.4(PCCA):c.717-8T>C rs1367148068 0.00001
NM_000282.4(PCCA):c.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299 0.00001
NM_000282.4(PCCA):c.819+19C>G rs1566819775 0.00001
NM_000282.4(PCCA):c.819+20T>C rs759539188 0.00001
NM_000282.4(PCCA):c.849A>G (p.Leu283=) rs1357373616 0.00001
NM_000282.4(PCCA):c.858T>C (p.Asn286=) rs778427348 0.00001
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810 0.00001
NM_000282.4(PCCA):c.864A>G (p.Arg288=) rs771222501 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000282.4(PCCA):c.914+3A>G rs749376990 0.00001
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser) rs749617899 0.00001
NM_000282.4(PCCA):c.987T>C (p.Tyr329=) rs778986379 0.00001
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
NC_000013.10:g.(?_100741259)_(100741489_?)del
NC_000013.10:g.(?_100807213)_(100809614_?)dup
NC_000013.10:g.(?_100807223)_(100809604_?)del
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100861576)_(100955262_?)del
NC_000013.10:g.(?_100888086)_(100992523_?)del
NC_000013.10:g.(?_100909829)_(101101579_?)del
NC_000013.10:g.(?_100909839)_(100992523_?)del
NC_000013.10:g.(?_100920933)_(100925610_?)del
NC_000013.10:g.(?_100925430)_(100925620_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(100992533_?)del
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_100953704)_(100962172_?)dup
NC_000013.10:g.(?_100971208)_(100992469_?)del
NC_000013.10:g.(?_100982805)_(101020838_?)dup
NC_000013.10:g.(?_100992391)_(100992533_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.10:g.(?_101077867)_(101101579_?)dup
NC_000013.10:g.(?_101167661)_(101167841_?)del
NC_000013.10:g.(?_101179909)_(101180026_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NM_000282.4(PCCA):c.-4A>C rs2046021682
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly) rs2063428007
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=) rs2152588978
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1026G>A (p.Lys342=) rs2152589052
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser) rs2063430702
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val) rs1014756935
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys) rs542465356
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser) rs2152589132
NM_000282.4(PCCA):c.1042T>C (p.Leu348=) rs2152589147
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp) rs2063431723
NM_000282.4(PCCA):c.105+11A>G
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.105+1G>C
NM_000282.4(PCCA):c.105+8G>A
NM_000282.4(PCCA):c.105+9C>T
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile) rs2063432405
NM_000282.4(PCCA):c.106-11T>C
NM_000282.4(PCCA):c.106-12C>A
NM_000282.4(PCCA):c.106-12del rs2152250467
NM_000282.4(PCCA):c.106-17C>T
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.106-2A>G
NM_000282.4(PCCA):c.106-5del
NM_000282.4(PCCA):c.106-5dup
NM_000282.4(PCCA):c.106-9T>G
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
NM_000282.4(PCCA):c.1065+11C>T
NM_000282.4(PCCA):c.1065+18T>A rs1458093935
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1065+1G>C rs2063433750
NM_000282.4(PCCA):c.1065+3AAC[2] rs1467232371
NM_000282.4(PCCA):c.1065+8C>T
NM_000282.4(PCCA):c.1066-10G>C rs1486164333
NM_000282.4(PCCA):c.1066-15A>G
NM_000282.4(PCCA):c.1066-4G>T
NM_000282.4(PCCA):c.1066-7C>G
NM_000282.4(PCCA):c.1066-8C>T
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs) rs2152683826
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.1099C>T (p.Leu367=) rs1328083857
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=) rs2152683893
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser) rs2152683965
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly) rs1484267212
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr) rs2152684002
NM_000282.4(PCCA):c.1164T>C (p.Asp388=) rs2152684012
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser) rs202015762
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
NM_000282.4(PCCA):c.1179C>A (p.Gly393=) rs1430193054
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val) rs1354175358
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly) rs1555411216
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter) rs1295357399
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu) rs1301904623
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
NM_000282.4(PCCA):c.1209+10A>G rs764226410
NM_000282.4(PCCA):c.1209+13G>C
NM_000282.4(PCCA):c.1209+14T>G
NM_000282.4(PCCA):c.1209+18G>A
NM_000282.4(PCCA):c.1209+18G>T
NM_000282.4(PCCA):c.1209+2T>G
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1209+6dup rs746645726
NM_000282.4(PCCA):c.1209+8G>C
NM_000282.4(PCCA):c.1209G>A (p.Glu403=) rs775767058
NM_000282.4(PCCA):c.120T>C (p.Tyr40=) rs2047399572
NM_000282.4(PCCA):c.1210-14C>T
NM_000282.4(PCCA):c.1210-15C>T
NM_000282.4(PCCA):c.1210-16T>C
NM_000282.4(PCCA):c.1210-19C>T
NM_000282.4(PCCA):c.1210-1G>A
NM_000282.4(PCCA):c.1210-4T>C rs1415422969
NM_000282.4(PCCA):c.1210-9A>T
NM_000282.4(PCCA):c.1212C>T (p.Asp404=) rs2152686072
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala) rs772750102
NM_000282.4(PCCA):c.1214C>A (p.Pro405His) rs200874114
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu) rs1190274343
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=) rs2152686094
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
NM_000282.4(PCCA):c.1249T>C (p.Leu417=) rs2066177786
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
NM_000282.4(PCCA):c.126A>G (p.Arg42=) rs763916930
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter) rs2047400320
NM_000282.4(PCCA):c.1284+10T>G
NM_000282.4(PCCA):c.1284+10dup rs1309984509
NM_000282.4(PCCA):c.1284+14C>T
NM_000282.4(PCCA):c.1284+18_1284+34del
NM_000282.4(PCCA):c.1284+19A>G rs2066182757
NM_000282.4(PCCA):c.1284+2dup rs776978090
NM_000282.4(PCCA):c.1284+7C>A
NM_000282.4(PCCA):c.1285-12_1285-8del rs2066517246
NM_000282.4(PCCA):c.1285-13_1285-6del rs535982202
NM_000282.4(PCCA):c.1285-1416A>G rs1362195093
NM_000282.4(PCCA):c.1285-1417T>C rs1232004179
NM_000282.4(PCCA):c.1285-14T>C rs1374058554
NM_000282.4(PCCA):c.1285-2A>G
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1285-7dup rs2066518077
NM_000282.4(PCCA):c.1285-8dup rs2066517246
NM_000282.4(PCCA):c.1285-9T>C
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly) rs776821944
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) rs776821944
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu) rs759257021
NM_000282.4(PCCA):c.1311A>T (p.Pro437=) rs2152692646
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter) rs2152692650
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1353+10A>G rs1595236362
NM_000282.4(PCCA):c.1353+10del
NM_000282.4(PCCA):c.1353+12T>G
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1353+9_1353+13del
NM_000282.4(PCCA):c.1354-13T>C
NM_000282.4(PCCA):c.1354-14T>G
NM_000282.4(PCCA):c.1354-17T>G
NM_000282.4(PCCA):c.1354-20_1354-17del
NM_000282.4(PCCA):c.1354-3dup
NM_000282.4(PCCA):c.1354-8G>C
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
NM_000282.4(PCCA):c.1362A>C (p.Thr454=) rs765949778
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=) rs1225545034
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser) rs1566911665
NM_000282.4(PCCA):c.1367G>A (p.Gly456Asp)
NM_000282.4(PCCA):c.136A>G (p.Met46Val) rs774158004
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) rs2066768313
NM_000282.4(PCCA):c.1392G>A (p.Lys464=) rs2152697440
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr) rs370549437
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu) rs769970677
NM_000282.4(PCCA):c.1407A>T (p.Ala469=) rs2152697468
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys) rs2066770739
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=) rs1437714151
NM_000282.4(PCCA):c.141G>T (p.Val47=)
NM_000282.4(PCCA):c.1422T>C (p.Val474=) rs2066771458
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe) rs35719359
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
NM_000282.4(PCCA):c.1429+10A>G
NM_000282.4(PCCA):c.1429+13A>T
NM_000282.4(PCCA):c.1429+13_1429+14del
NM_000282.4(PCCA):c.1429+15T>G
NM_000282.4(PCCA):c.1429+18C>T rs1445188783
NM_000282.4(PCCA):c.1429+20C>T rs2152697607
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
NM_000282.4(PCCA):c.1430-14C>A
NM_000282.4(PCCA):c.1430-15T>C
NM_000282.4(PCCA):c.1430-16A>G
NM_000282.4(PCCA):c.1430-17T>C
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.1430-1G>A rs2152733805
NM_000282.4(PCCA):c.1430-2A>T
NM_000282.4(PCCA):c.1430-8A>T
NM_000282.4(PCCA):c.1430-9dup
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
NM_000282.4(PCCA):c.1449A>G (p.Ala483=) rs764611115
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe) rs1302157004
NM_000282.4(PCCA):c.1455T>C (p.Leu485=) rs752220238
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter) rs2069404553
NM_000282.4(PCCA):c.1458A>C (p.Arg486=) rs2152733872
NM_000282.4(PCCA):c.145del (p.Arg49fs) rs2047402577
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp) rs767997785
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
NM_000282.4(PCCA):c.1477del (p.Arg493fs) rs746733688
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1494C>T (p.Asp498=) rs977076579
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu) rs146061036
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=) rs2152734002
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val) rs779659813
NM_000282.4(PCCA):c.1539del (p.Gly514fs) rs1566945996
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
NM_000282.4(PCCA):c.1540+13T>C rs2069419811
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1540+7A>G rs761046263
NM_000282.4(PCCA):c.1540+9G>A
NM_000282.4(PCCA):c.1540+9G>T
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-14T>C
NM_000282.4(PCCA):c.1541-16G>A
NM_000282.4(PCCA):c.1541-17T>C
NM_000282.4(PCCA):c.1541-19G>A
NM_000282.4(PCCA):c.1541-19G>T
NM_000282.4(PCCA):c.1541-19_1541-12del
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-1G>C
NM_000282.4(PCCA):c.1541-20_1541-9del
NM_000282.4(PCCA):c.1541-5C>T
NM_000282.4(PCCA):c.1541-6C>T
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter) rs2071086995
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn) rs2071087775
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr) rs2152751879
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu) rs2071090257
NM_000282.4(PCCA):c.1590A>G (p.Ser530=) rs2152751916
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=) rs2152751931
NM_000282.4(PCCA):c.1594T>C (p.Leu532=) rs2152751935
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs) rs1344574242
NM_000282.4(PCCA):c.1599T>C (p.Phe533=) rs2152751951
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=) rs1566960733
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg) rs2152751997
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
NM_000282.4(PCCA):c.1643+11T>C rs2152752064
NM_000282.4(PCCA):c.1643+12C>A
NM_000282.4(PCCA):c.1643+15T>C
NM_000282.4(PCCA):c.1643+17A>G
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+6G>A
NM_000282.4(PCCA):c.1643+8_1643+13del rs2152752048
NM_000282.4(PCCA):c.1643+9G>A
NM_000282.4(PCCA):c.1644-18C>T rs1431833092
NM_000282.4(PCCA):c.1644-7A>G
NM_000282.4(PCCA):c.1644-9C>T rs1425956784
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1665C>T (p.Asp555=) rs1461874924
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val) rs2152811800
NM_000282.4(PCCA):c.1671C>G (p.Ala557=) rs2075362375
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) rs202247816
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
NM_000282.4(PCCA):c.1695G>A (p.Leu565=) rs1595621243
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
NM_000282.4(PCCA):c.16del (p.Val6fs)
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp) rs1475268855
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys) rs2152811890
NM_000282.4(PCCA):c.1731T>C (p.Asn577=) rs2152811890
NM_000282.4(PCCA):c.1740G>A (p.Val580=) rs2152811913
NM_000282.4(PCCA):c.1746+12T>C
NM_000282.4(PCCA):c.1746+14_1746+17del
NM_000282.4(PCCA):c.1746+15T>C
NM_000282.4(PCCA):c.1746+17del
NM_000282.4(PCCA):c.1746+1G>A rs2075369142
NM_000282.4(PCCA):c.1746+2T>C
NM_000282.4(PCCA):c.1747-11T>C
NM_000282.4(PCCA):c.1747-12G>A
NM_000282.4(PCCA):c.1747-15T>G
NM_000282.4(PCCA):c.1747-18T>C
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1747-20C>T
NM_000282.4(PCCA):c.1747-6C>T
NM_000282.4(PCCA):c.1747-7A>G
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala) rs2079091617
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=) rs1595860527
NM_000282.4(PCCA):c.1791C>T (p.Asn597=) rs2079093623
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val) rs2079093758
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
NM_000282.4(PCCA):c.1800G>C (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1800G>T (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
NM_000282.4(PCCA):c.1806A>G (p.Leu602=) rs2152893970
NM_000282.4(PCCA):c.1807T>C (p.Leu603=) rs2079094668
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
NM_000282.4(PCCA):c.1812T>C (p.Ser604=) rs2152893989
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr) rs2079095516
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe) rs751083923
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala) rs749767976
NM_000282.4(PCCA):c.183+15G>T
NM_000282.4(PCCA):c.183+19T>C rs780105316
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+3A>G
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G rs369767655
NM_000282.4(PCCA):c.183+9T>G rs2152251053
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) rs2152894046
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr) rs1947530469
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
NM_000282.4(PCCA):c.184-10C>G
NM_000282.4(PCCA):c.184-10C>T rs2048349934
NM_000282.4(PCCA):c.184-11dup
NM_000282.4(PCCA):c.184-15T>G rs1257547578
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-19G>A
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.184-9T>A
NM_000282.4(PCCA):c.184-9T>C
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
NM_000282.4(PCCA):c.1845+10G>T rs1456360150
NM_000282.4(PCCA):c.1845+12A>G
NM_000282.4(PCCA):c.1845+13A>G
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.1845+20C>A
NM_000282.4(PCCA):c.1845+21del
NM_000282.4(PCCA):c.1845+2T>G
NM_000282.4(PCCA):c.1845+8T>C
NM_000282.4(PCCA):c.1845+9T>C
NM_000282.4(PCCA):c.1846-10dup
NM_000282.4(PCCA):c.1846-13G>T
NM_000282.4(PCCA):c.1846-15_1846-14del
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T rs1555298451
NM_000282.4(PCCA):c.1846-20A>G
NM_000282.4(PCCA):c.1846-2_1852del rs2152925644
NM_000282.4(PCCA):c.1846-6T>C
NM_000282.4(PCCA):c.1846-9_1846-6del
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.184del (p.Thr62fs) rs879253812
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
NM_000282.4(PCCA):c.1863A>C (p.Ala621=) rs937736837
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1893T>C (p.Gly631=) rs2152925693
NM_000282.4(PCCA):c.1896A>C (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly) rs375617644
NM_000282.4(PCCA):c.1899+12A>G
NM_000282.4(PCCA):c.1899+14C>T
NM_000282.4(PCCA):c.1899+15A>G rs1595942350
NM_000282.4(PCCA):c.1899+18C>A
NM_000282.4(PCCA):c.1899+1G>T
NM_000282.4(PCCA):c.1899+21_1899+24del
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.189del (p.Phe63fs)
NM_000282.4(PCCA):c.18C>G (p.Val6=)
NM_000282.4(PCCA):c.18C>T (p.Val6=) rs752423629
NM_000282.4(PCCA):c.1900-14G>T
NM_000282.4(PCCA):c.1900-15T>C
NM_000282.4(PCCA):c.1900-15del
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.1900-20G>T
NM_000282.4(PCCA):c.1900-2A>G rs2152998141
NM_000282.4(PCCA):c.1900-7C>T
NM_000282.4(PCCA):c.1900-8C>T rs1480940423
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=) rs2152998157
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1920C>T (p.Thr640=) rs2152998162
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=) rs1449490636
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1953G>T (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1962G>A (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1962G>T (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
NM_000282.4(PCCA):c.2007G>C (p.Val669=) rs2152998254
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile) rs142646074
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
NM_000282.4(PCCA):c.2031T>C (p.Pro677=) rs2152998273
NM_000282.4(PCCA):c.2040+12G>C
NM_000282.4(PCCA):c.2040+12G>T
NM_000282.4(PCCA):c.2040+15T>C
NM_000282.4(PCCA):c.2040+16G>C rs2152998313
NM_000282.4(PCCA):c.2040+17TC[4] rs1312258807
NM_000282.4(PCCA):c.2040+18C>G
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+20C>G
NM_000282.4(PCCA):c.2040+2T>G
NM_000282.4(PCCA):c.2040+7G>A
NM_000282.4(PCCA):c.2040+8C>T
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-10del
NM_000282.4(PCCA):c.2041-16C>T
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-8T>C rs2153008293
NM_000282.4(PCCA):c.2041_2044del
NM_000282.4(PCCA):c.2043A>G (p.Val681=) rs745390236
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.207T>C (p.Ala69=) rs2152278538
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn) rs2087964084
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
NM_000282.4(PCCA):c.2094T>C (p.Ser698=) rs2153008347
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
NM_000282.4(PCCA):c.2100A>G (p.Thr700=) rs141926030
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys) rs2087968295
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
NM_000282.4(PCCA):c.2118+12_2118+19dup
NM_000282.4(PCCA):c.2118+18C>T
NM_000282.4(PCCA):c.2118+3G>C
NM_000282.4(PCCA):c.2118+7C>T
NM_000282.4(PCCA):c.2118G>A (p.Thr706=) rs758468297
NM_000282.4(PCCA):c.2119-17A>G
NM_000282.4(PCCA):c.2119-19G>A rs1162118685
NM_000282.4(PCCA):c.2119-1G>C
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.2119-4C>T
NM_000282.4(PCCA):c.2124A>G (p.Lys708=) rs2153010943
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
NM_000282.4(PCCA):c.2133C>T (p.His711=)
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg) rs2088292660
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg) rs141286340
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val) rs1283571787
NM_000282.4(PCCA):c.2167C>T (p.Leu723=) rs748808267
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.225A>C (p.Ala75=) rs1243423868
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
NM_000282.4(PCCA):c.231+10A>G
NM_000282.4(PCCA):c.231+18C>A
NM_000282.4(PCCA):c.231+19T>G
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+9_231+13del rs759203419
NM_000282.4(PCCA):c.232-13T>C
NM_000282.4(PCCA):c.232-17A>C
NM_000282.4(PCCA):c.232-18T>A
NM_000282.4(PCCA):c.232-18T>C
NM_000282.4(PCCA):c.232-2A>G rs747968405
NM_000282.4(PCCA):c.232-2A>T rs747968405
NM_000282.4(PCCA):c.232-6A>T rs527249599
NM_000282.4(PCCA):c.234del (p.Ile79fs)
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
NM_000282.4(PCCA):c.243T>C (p.Thr81=) rs2152278998
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn) rs2152279056
NM_000282.4(PCCA):c.267A>G (p.Thr89=) rs2152279061
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
NM_000282.4(PCCA):c.273C>T (p.Ala91=) rs2152279075
NM_000282.4(PCCA):c.279C>T (p.His93=) rs776253297
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
NM_000282.4(PCCA):c.287T>C (p.Val96Ala) rs2048368792
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
NM_000282.4(PCCA):c.293C>T (p.Ala98Val) rs2152279131
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln) rs1251572354
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu) rs1251572354
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.300+15G>A
NM_000282.4(PCCA):c.300+18T>C
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.300+2T>G
NM_000282.4(PCCA):c.300+2dup rs2048370100
NM_000282.4(PCCA):c.300+7A>G rs1241971231
NM_000282.4(PCCA):c.300+8T>G
NM_000282.4(PCCA):c.300+9A>G rs2152279171
NM_000282.4(PCCA):c.301-10G>A
NM_000282.4(PCCA):c.301-11T>C
NM_000282.4(PCCA):c.301-18A>G
NM_000282.4(PCCA):c.301-5C>T rs2152382806
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.306T>C (p.His102=) rs1388078702
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.33G>A (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala) rs1566594619
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys) rs936088423
NM_000282.4(PCCA):c.366C>T (p.Leu122=) rs1228885494
NM_000282.4(PCCA):c.370A>G (p.Met124Val) rs748802820
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
NM_000282.4(PCCA):c.378C>T (p.Ala126=) rs2152382977
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
NM_000282.4(PCCA):c.396G>A (p.Lys132=) rs2152383018
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+11A>G
NM_000282.4(PCCA):c.414+15A>C
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.414+19A>T
NM_000282.4(PCCA):c.414+1G>C
NM_000282.4(PCCA):c.414+1G>T rs2152383049
NM_000282.4(PCCA):c.415-10C>A
NM_000282.4(PCCA):c.415-13T>C
NM_000282.4(PCCA):c.415-1G>A
NM_000282.4(PCCA):c.415-1G>C
NM_000282.4(PCCA):c.415-2A>G rs746286209
NM_000282.4(PCCA):c.415-4T>C rs2152387053
NM_000282.4(PCCA):c.415G>A (p.Val139Ile) rs770129876
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
NM_000282.4(PCCA):c.42C>G (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) rs1593996636
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_000282.4(PCCA):c.447del (p.Asn149fs)
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
NM_000282.4(PCCA):c.449_468+443del rs2152387124
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
NM_000282.4(PCCA):c.459C>T (p.Ala153=) rs1358991180
NM_000282.4(PCCA):c.459del (p.Arg154fs)
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.468+10T>C
NM_000282.4(PCCA):c.468+10T>G rs2152387181
NM_000282.4(PCCA):c.468+15A>G
NM_000282.4(PCCA):c.468+18C>G
NM_000282.4(PCCA):c.468+18C>T
NM_000282.4(PCCA):c.468+19A>G
NM_000282.4(PCCA):c.468+1G>A rs766139678
NM_000282.4(PCCA):c.468+1G>C
NM_000282.4(PCCA):c.468+2T>C
NM_000282.4(PCCA):c.468+8G>A rs2152387172
NM_000282.4(PCCA):c.468+8_468+10dup
NM_000282.4(PCCA):c.469-4A>G
NM_000282.4(PCCA):c.469-5C>T
NM_000282.4(PCCA):c.469-5dup
NM_000282.4(PCCA):c.469-8C>A
NM_000282.4(PCCA):c.469-9del
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
NM_000282.4(PCCA):c.483C>G (p.Val161=)
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr) rs1177671858
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
NM_000282.4(PCCA):c.497del (p.Pro166fs)
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
NM_000282.4(PCCA):c.505_506del (p.His169fs) rs2152478652
NM_000282.4(PCCA):c.506dup (p.His169fs) rs2152478688
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg) rs779286461
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn) rs2152478767
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly) rs2059068868
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) rs2059069232
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu) rs1225108460
NM_000282.4(PCCA):c.579T>G (p.Pro193=) rs2152478869
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg) rs1302125451
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
NM_000282.4(PCCA):c.597C>G (p.Val199=)
NM_000282.4(PCCA):c.600+15T>C
NM_000282.4(PCCA):c.600+16A>C
NM_000282.4(PCCA):c.600+17A>C
NM_000282.4(PCCA):c.600+1G>A rs879253802
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.601-12C>T
NM_000282.4(PCCA):c.601-18C>T
NM_000282.4(PCCA):c.601-4A>G
NM_000282.4(PCCA):c.601-6T>C
NM_000282.4(PCCA):c.601-9C>T rs775469263
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
NM_000282.4(PCCA):c.603T>C (p.Asp201=) rs773868428
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.622del (p.Ile208fs)
NM_000282.4(PCCA):c.630G>A (p.Arg210=) rs2152522233
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.637+1G>A rs1265911468
NM_000282.4(PCCA):c.637+2T>A rs2152522245
NM_000282.4(PCCA):c.637+3A>G
NM_000282.4(PCCA):c.637+9T>G rs2152522254
NM_000282.4(PCCA):c.638-1G>A
NM_000282.4(PCCA):c.638-2A>G
NM_000282.4(PCCA):c.638-2del
NM_000282.4(PCCA):c.638-5G>T rs764316702
NM_000282.4(PCCA):c.638-7C>T rs2152558252
NM_000282.4(PCCA):c.63G>A (p.Pro21=) rs2152189800
NM_000282.4(PCCA):c.645T>A (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.645dup (p.Val216fs)
NM_000282.4(PCCA):c.649A>G (p.Met217Val) rs372844772
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
NM_000282.4(PCCA):c.650T>C (p.Met217Thr) rs750593565
NM_000282.4(PCCA):c.651G>C (p.Met217Ile) rs1018685292
NM_000282.4(PCCA):c.652A>C (p.Ile218Leu) rs1012525921
NM_000282.4(PCCA):c.656dup (p.Ala220fs) rs1594961338
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
NM_000282.4(PCCA):c.672dup (p.Gly225fs) rs1164986524
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp) rs2062161647
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
NM_000282.4(PCCA):c.696T>G (p.Ala232=) rs2152558384
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.6G>A (p.Ala2=) rs958365590
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
NM_000282.4(PCCA):c.716+16A>G
NM_000282.4(PCCA):c.716+1G>C
NM_000282.4(PCCA):c.716+20A>G
NM_000282.4(PCCA):c.716+2T>C
NM_000282.4(PCCA):c.717-13_717-11del rs2152564870
NM_000282.4(PCCA):c.717-15T>G
NM_000282.4(PCCA):c.717-19T>G
NM_000282.4(PCCA):c.717-2A>G rs2062611307
NM_000282.4(PCCA):c.717-5dup rs2062610539
NM_000282.4(PCCA):c.717-8T>G rs1367148068
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
NM_000282.4(PCCA):c.72G>A (p.Gln24=) rs2152189926
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
NM_000282.4(PCCA):c.756T>C (p.Ser252=) rs2152564931
NM_000282.4(PCCA):c.75G>T (p.Leu25=) rs1295789610
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly) rs746776657
NM_000282.4(PCCA):c.771A>G (p.Arg257=) rs1483857199
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
NM_000282.4(PCCA):c.780A>T (p.Ile260=) rs1451573276
NM_000282.4(PCCA):c.783A>G (p.Glu261=) rs917366865
NM_000282.4(PCCA):c.786del (p.Lys262fs)
NM_000282.4(PCCA):c.789del (p.Phe263fs)
NM_000282.4(PCCA):c.792T>G (p.Ile264Met) rs1484956776
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr) rs2152564988
NM_000282.4(PCCA):c.79C>T (p.Leu27=) rs2152189967
NM_000282.4(PCCA):c.801T>C (p.Pro267=) rs2152564990
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr) rs2062620327
NM_000282.4(PCCA):c.807T>C (p.His269=) rs2152565006
NM_000282.4(PCCA):c.819+10T>C rs1280822128
NM_000282.4(PCCA):c.819+13_819+35del
NM_000282.4(PCCA):c.819+16A>T rs377356398
NM_000282.4(PCCA):c.819+19C>T
NM_000282.4(PCCA):c.819+1G>A
NM_000282.4(PCCA):c.819+7A>G
NM_000282.4(PCCA):c.819+8C>T
NM_000282.4(PCCA):c.81G>A (p.Leu27=) rs2152189973
NM_000282.4(PCCA):c.820-18A>G
NM_000282.4(PCCA):c.820-1G>A rs2063103516
NM_000282.4(PCCA):c.820-1G>T
NM_000282.4(PCCA):c.820-8T>C
NM_000282.4(PCCA):c.820-9C>T rs1371297395
NM_000282.4(PCCA):c.820G>A (p.Val274Ile) rs767299022
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.837del (p.His279fs)
NM_000282.4(PCCA):c.841A>C (p.Asn281His) rs2152572294
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
NM_000282.4(PCCA):c.847T>C (p.Leu283=) rs911990330
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys) rs778427348
NM_000282.4(PCCA):c.85del (p.Ala29fs)
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter) rs1595033018
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
NM_000282.4(PCCA):c.880A>C (p.Arg294=) rs2063109467
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.897G>C (p.Val299=) rs770113371
NM_000282.4(PCCA):c.900G>A (p.Val300=) rs2152572391
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln) rs775686458
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
NM_000282.4(PCCA):c.90G>C (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.90G>T (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.912A>G (p.Pro304=) rs2063111759
NM_000282.4(PCCA):c.914+14G>A
NM_000282.4(PCCA):c.914+14G>C rs2152572441
NM_000282.4(PCCA):c.914+16A>T
NM_000282.4(PCCA):c.914+17A>G
NM_000282.4(PCCA):c.914+17A>T
NM_000282.4(PCCA):c.914+18_914+19inv
NM_000282.4(PCCA):c.914+1G>A
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.914+9C>T
NM_000282.4(PCCA):c.915-11dup rs1311154145
NM_000282.4(PCCA):c.915-13T>G
NM_000282.4(PCCA):c.915-15T>G
NM_000282.4(PCCA):c.915-18A>G
NM_000282.4(PCCA):c.915-18del
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-4G>A
NM_000282.4(PCCA):c.915-5T>C rs2152587983
NM_000282.4(PCCA):c.915-6A>G rs2063416816
NM_000282.4(PCCA):c.915-6A>T rs2063416816
NM_000282.4(PCCA):c.915-8A>G rs2063416324
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
NM_000282.4(PCCA):c.91C>T (p.Leu31=) rs2152190063
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
NM_000282.4(PCCA):c.930G>C (p.Ala310=) rs377248400
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp) rs369790356
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly) rs138149179
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
NM_000282.4(PCCA):c.940A>C (p.Arg314=) rs2152588262
NM_000282.4(PCCA):c.942A>G (p.Arg314=) rs2152588280
NM_000282.4(PCCA):c.944C>T (p.Ala315Val) rs1302507711
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347
NM_000282.4(PCCA):c.94C>A (p.Arg32=) rs2152190089
NM_000282.4(PCCA):c.954A>G (p.Glu318=) rs2152588516
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
NM_000282.4(PCCA):c.957A>G (p.Gln319=) rs756496977
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr) rs1434912184
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
NM_000282.4(PCCA):c.966T>G (p.Ala322=) rs2152588623
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe) rs1394612377
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
NM_000282.4(PCCA):c.972C>G (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.972C>T (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
NM_000282.4(PCCA):c.981A>G (p.Val327=) rs2063425788
NM_000282.4(PCCA):c.996T>C (p.Ala332=) rs2152588809
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141

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