ClinVar Miner

List of variants in gene PCCA studied for Propionic acidemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
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HGVS dbSNP
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.11:g.(?_100111821)_(100112081_?)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.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NM_000282.3(PCCA):c.183delA rs879253812
NM_000282.4(PCCA):c.-20G>A rs374941593
NM_000282.4(PCCA):c.-4A>C
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-10T>C
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1065+3AAC[2]
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1066-10G>C
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1209+10A>G
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1284+2dup
NM_000282.4(PCCA):c.1285-10T>C
NM_000282.4(PCCA):c.1285-12_1285-8del
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-5C>T
NM_000282.4(PCCA):c.1285-7dup
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1354-10T>C
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1429+18C>T
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.145del (p.Arg49fs)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1540+1G>C rs199604072
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1540+7A>G
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+8_1643+13del
NM_000282.4(PCCA):c.1644-9C>T
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) rs202247816
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1747-8dup
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G
NM_000282.4(PCCA):c.183+9T>G
NM_000282.4(PCCA):c.184-10C>T
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.184-5T>C
NM_000282.4(PCCA):c.184-6C>T rs542777393
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1845+10G>T
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+2_1899+3insCT
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1899+7A>G rs950344042
NM_000282.4(PCCA):c.18C>T (p.Val6=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2041-8T>C
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
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.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2118+10T>C
NM_000282.4(PCCA):c.2119-2A>G
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+8G>A rs199996461
NM_000282.4(PCCA):c.231+9_231+13del
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.232-6A>T
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
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.267A>G (p.Thr89=)
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
NM_000282.4(PCCA):c.279C>T (p.His93=)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.300+7A>G
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.306T>C (p.His102=)
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.415-10C>T
NM_000282.4(PCCA):c.415-2A>C rs746286209
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
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.432A>G (p.Gly144=) rs768756825
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.446del (p.Asn149fs) rs1206838893
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.468+1G>A
NM_000282.4(PCCA):c.468+8G>A
NM_000282.4(PCCA):c.483C>T (p.Val161=)
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.506dup (p.His169fs)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
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.570T>C (p.Asn190=)
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.638-10C>T
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.638-5G>T
NM_000282.4(PCCA):c.638-7C>T
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.656dup (p.Ala220fs) rs1594961338
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
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.717-2A>G
NM_000282.4(PCCA):c.717-4A>G
NM_000282.4(PCCA):c.717-5dup
NM_000282.4(PCCA):c.717-8T>C
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
NM_000282.4(PCCA):c.819+10T>C
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.820-9C>T
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957
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.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.897G>C (p.Val299=)
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
NM_000282.4(PCCA):c.914+10C>G
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-6A>G
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
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>C (p.Ala310=)
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_001127692.2(PCCA):c.-60C>T rs778039561
PCCA, 2-BP INS, 1824IVS, +3
PCCA, 4-BP DEL, 1824IVS, +3
PCCA, 9-BP DEL, 1771IVS, -2
PCCA, IVS14, A-G, -1416

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