ClinVar Miner

List of variants in gene PCCA reported as uncertain significance for Propionic acidemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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HGVS dbSNP gnomAD frequency
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.1236A>G (p.Pro412=) rs41281120 0.00219
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.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.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.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.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.1519G>A (p.Val507Met) rs146061036 0.00010
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373 0.00010
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.1840G>A (p.Val614Ile) rs201570336 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346 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.1763C>T (p.Ser588Leu) rs532947142 0.00004
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr) rs376535469 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.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.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.1275T>G (p.His425Gln) rs548833871 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.2150C>T (p.Thr717Ile) rs548026367 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.717-4A>G rs1046922650 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.1112A>G (p.Gln371Arg) rs752995083 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.1217A>G (p.Tyr406Cys) rs981962098 0.00001
NM_000282.4(PCCA):c.1291G>A (p.Val431Met) rs1464775522 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 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.1540+5G>C rs371430625 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.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.177T>A (p.Asn59Lys) rs778065877 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.1828A>T (p.Thr610Ser) rs749767976 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.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.1997T>A (p.Met666Lys) rs999241357 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.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.297T>G (p.Ser99Arg) rs1203679401 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr) rs1482878054 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 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.62C>T (p.Pro21Leu) rs1367928921 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.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299 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
NC_000013.10:g.(?_100807213)_(100809614_?)dup
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_101077867)_(101101579_?)dup
NM_000282.4(PCCA):c.-4A>C rs2046021682
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly) rs2063428007
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
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.1047A>T (p.Glu349Asp) rs2063431723
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile) rs2063432405
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser) rs2152683965
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
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.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.1184C>G (p.Ala395Gly)
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val) rs1354175358
NM_000282.4(PCCA):c.1209+6dup rs746645726
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.1213C>G (p.Pro405Ala) rs772750102
NM_000282.4(PCCA):c.1214C>A (p.Pro405His) rs200874114
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu) rs1190274343
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
NM_000282.4(PCCA):c.1285-1417T>C rs1232004179
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly) rs776821944
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu) rs759257021
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
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.1381G>A (p.Glu461Lys)
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) rs2066768313
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.1418A>G (p.Tyr473Cys) rs2066770739
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.1429G>A (p.Gly477Ser)
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe) rs1302157004
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp) rs767997785
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
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.1534T>G (p.Phe512Val) rs779659813
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.1589C>T (p.Ser530Leu) rs2071090257
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
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+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+6G>A
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val) rs2152811800
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
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.1760G>C (p.Gly587Ala) rs2079091617
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val) rs2079093758
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
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+3A>G
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr) rs1947530469
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
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.1898T>C (p.Val633Ala)
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly) rs375617644
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
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.2028G>T (p.Lys676Asn)
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn) rs2087964084
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
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+3G>C
NM_000282.4(PCCA):c.2118G>A (p.Thr706=) rs758468297
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
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.2161G>T (p.Gly721Trp)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val) rs1283571787
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
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.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.300+2dup rs2048370100
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
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.340C>A (p.Pro114Thr)
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala) rs1566594619
NM_000282.4(PCCA):c.370A>G (p.Met124Val) rs748802820
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.409C>A (p.Gln137Lys)
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.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr) rs1177671858
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
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.551C>G (p.Ala184Gly) rs2059068868
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu) rs1225108460
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
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.602A>T (p.Asp201Val)
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.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
NM_000282.4(PCCA):c.637+3A>G
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.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp) rs2062161647
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
NM_000282.4(PCCA):c.717-13_717-11del rs2152564870
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly) rs746776657
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
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.820G>A (p.Val274Ile) rs767299022
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.841A>C (p.Asn281His) rs2152572294
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys) rs778427348
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln) rs775686458
NM_000282.4(PCCA):c.914+8T>A rs543352333
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.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.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.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.958G>A (p.Ala320Thr) rs1434912184
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe) rs1394612377
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075

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