ClinVar Miner

List of variants in gene PCCB reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.*44C>T rs201452852 0.00197
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_000532.5(PCCB):c.-34G>A rs372649775 0.00074
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_000532.5(PCCB):c.*91C>A rs115533065 0.00066
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198 0.00050
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000532.5(PCCB):c.23C>T (p.Ala8Val) rs764602019 0.00012
NM_000532.5(PCCB):c.250A>G (p.Met84Val) rs201950515 0.00012
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000532.5(PCCB):c.8C>T (p.Ala3Val) rs373685372 0.00007
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150 0.00006
NM_000532.5(PCCB):c.641C>T (p.Thr214Met) rs375740942 0.00006
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn) rs757845027 0.00006
NM_000532.5(PCCB):c.818A>T (p.Asp273Val) rs765749691 0.00006
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184 0.00005
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser) rs746240889 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) rs561539546 0.00004
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr) rs371406048 0.00004
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu) rs770601332 0.00004
NM_000532.5(PCCB):c.613G>A (p.Val205Ile) rs141956198 0.00004
NM_000532.5(PCCB):c.764-3T>C rs147939913 0.00004
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604 0.00004
NM_000532.5(PCCB):c.950T>A (p.Val317Glu) rs762758029 0.00004
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser) rs752758930 0.00003
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala) rs1027171385 0.00003
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly) rs1422527852 0.00003
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp) rs373189621 0.00003
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 0.00003
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704 0.00003
NM_000532.5(PCCB):c.-35G>A rs886058016 0.00002
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile) rs761529521 0.00002
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met) rs372770908 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr) rs757258397 0.00001
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser) rs747309318 0.00001
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu) rs1277882976 0.00001
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly) rs201138170 0.00001
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.128G>A (p.Arg43His) rs1941481863 0.00001
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn) rs774942448 0.00001
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp) rs749210374 0.00001
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile) rs1301343613 0.00001
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val) rs376998134 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.139C>G (p.Leu47Val) rs199935380 0.00001
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg) rs1368586445 0.00001
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser) rs752000929 0.00001
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His) rs143190442 0.00001
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser) rs1935428949 0.00001
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser) rs1483082276 0.00001
NM_000532.5(PCCB):c.1504G>A (p.Val502Met) rs763024986 0.00001
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln) rs909550005 0.00001
NM_000532.5(PCCB):c.183+12_183+31dup rs745694339 0.00001
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669 0.00001
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys) rs1248879007 0.00001
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg) rs757860152 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys) rs1941477030 0.00001
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser) rs1468203736 0.00001
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala) rs1237531952 0.00001
NM_000532.5(PCCB):c.583C>G (p.Leu195Val) rs747267484 0.00001
NM_000532.5(PCCB):c.646A>G (p.Met216Val) rs747252352 0.00001
NM_000532.5(PCCB):c.654+14G>T rs1457950469 0.00001
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr) rs772483250 0.00001
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile) rs762986402 0.00001
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg) rs1365706286 0.00001
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile) rs779581071 0.00001
NM_000532.5(PCCB):c.758T>C (p.Met253Thr) rs747881252 0.00001
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser) rs749071200 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe) rs765843410 0.00001
NM_000532.5(PCCB):c.876C>G (p.His292Gln) rs776893713 0.00001
NM_000532.5(PCCB):c.907G>C (p.Asp303His) rs943266027 0.00001
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu) rs1370289032 0.00001
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp) rs1456890228 0.00001
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser) rs558836100 0.00001
NM_000532.5(PCCB):c.966T>C (p.Ser322=) rs1269805994 0.00001
NM_000532.5(PCCB):c.967-3C>T rs1186569803 0.00001
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys) rs377660729 0.00001
NC_000003.11:g.(?_135969218)_(135969420_?)dup
NC_000003.11:g.(?_135969218)_(136048868_?)dup
NM_000532.4(PCCB):c.-46A>T rs751837162
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.1003A>G (p.Asn335Asp)
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp) rs1934921365
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
NM_000532.5(PCCB):c.1050G>T (p.Arg350Ser)
NM_000532.5(PCCB):c.1068C>T (p.Gly356=) rs980116020
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu) rs2108226720
NM_000532.5(PCCB):c.1090+3A>C
NM_000532.5(PCCB):c.1090+6A>C
NM_000532.5(PCCB):c.1091-6_1091-3del rs767794302
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val) rs1576360099
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu) rs761529521
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe) rs761529521
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.115A>G (p.Ile39Val) rs1208205672
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn) rs2108237886
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys) rs371610471
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
NM_000532.5(PCCB):c.1220G>A (p.Gly407Asp)
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp) rs994386938
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys) rs1031941989
NM_000532.5(PCCB):c.1299+5G>A
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly) rs749210374
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys) rs1455298516
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr) rs774232001
NM_000532.5(PCCB):c.1398+3G>A rs767511434
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala) rs2108240251
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu) rs1179000221
NM_000532.5(PCCB):c.1487C>T (p.Ala496Val)
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val) rs1935481576
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg) rs2108241736
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly) rs1284814283
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn) rs759733016
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser) rs775930817
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe) rs561539546
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr) rs765790211
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp) rs377681768
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu) rs767965814
NM_000532.5(PCCB):c.183+11_183+30dup rs1205510892
NM_000532.5(PCCB):c.183+14G>A
NM_000532.5(PCCB):c.183+21_183+46del
NM_000532.5(PCCB):c.183+3_183+6del
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+5G>C
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.197C>T (p.Ala66Val) rs2108137275
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys) rs2108137296
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr) rs2108137332
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
NM_000532.5(PCCB):c.274G>C (p.Asp92His) rs2108137411
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
NM_000532.5(PCCB):c.283A>G (p.Met95Val) rs1941662476
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala) rs915881293
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser) rs2108138282
NM_000532.5(PCCB):c.349A>G (p.Arg117Gly)
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu) rs1257439275
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile) rs1941677490
NM_000532.5(PCCB):c.372+4T>C
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe) rs1215705998
NM_000532.5(PCCB):c.430-13T>G
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.472C>G (p.Leu158Val) rs2108146685
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys) rs765946213
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp) rs1941842177
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly) rs769481450
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr) rs2108181825
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.565G>A (p.Val189Ile) rs2108181880
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu) rs1212475120
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
NM_000532.5(PCCB):c.588C>G (p.Ile196Met)
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser) rs777726717
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg) rs375740942
NM_000532.5(PCCB):c.649G>A (p.Val217Ile) rs2108182134
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
NM_000532.5(PCCB):c.655-3C>G
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
NM_000532.5(PCCB):c.756_758del (p.Met253del)
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr) rs1197317905
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
NM_000532.5(PCCB):c.797A>T (p.Asp266Val)
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser) rs1234137372
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe) rs2108202806
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn) rs777434061
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser) rs771935604
NM_000532.5(PCCB):c.866G>A (p.Arg289His) rs532142254
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
NM_000532.5(PCCB):c.875A>G (p.His292Arg) rs2108202909
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) rs183013046
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000532.5(PCCB):c.885-3A>C
NM_000532.5(PCCB):c.885-6C>G
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu) rs147379583
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp) rs1934256655
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe) rs2108127897
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser) rs148578333
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr) rs751136139
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
NM_000532.5(PCCB):c.957C>G (p.Ile319Met) rs868483670
NM_000532.5(PCCB):c.95C>T (p.Ala32Val) rs2108127907
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe) rs1034824113
NM_000532.5(PCCB):c.966+5G>A rs1255284441
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del) rs796052023
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)

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