ClinVar Miner

List of variants in gene PCCB studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 362
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136019910_136021257del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NG_008939.1:g.883_8934del8052
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.*44C>T rs201452852
NM_000532.5(PCCB):c.*91C>A rs115533065
NM_000532.5(PCCB):c.-34G>A rs372649775
NM_000532.5(PCCB):c.-35G>A rs886058016
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1090+7T>C
NM_000532.5(PCCB):c.1091-6T>C
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
NM_000532.5(PCCB):c.1199-4C>T rs1361484856
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1223del (p.Ile408fs) rs758309460
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1338C>T (p.His446=)
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) rs1576360976
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1398+3G>A
NM_000532.5(PCCB):c.1398+9C>T
NM_000532.5(PCCB):c.1399-10C>T
NM_000532.5(PCCB):c.1399-2_1399-1del
NM_000532.5(PCCB):c.1399-5C>T
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.1498+10T>C
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1498+8A>G
NM_000532.5(PCCB):c.1499-1G>C
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
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.152dup (p.Gln52fs)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) rs202247821
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.183+9T>C
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.184-7A>T
NM_000532.5(PCCB):c.184-9C>T
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
NM_000532.5(PCCB):c.21G>A (p.Val7=)
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.303+7G>A
NM_000532.5(PCCB):c.303+8T>A rs199769617
NM_000532.5(PCCB):c.304-4G>T
NM_000532.5(PCCB):c.304-5G>C
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
NM_000532.5(PCCB):c.30C>A (p.Val10=)
NM_000532.5(PCCB):c.30C>T (p.Val10=)
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.321G>C (p.Val107=)
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
NM_000532.5(PCCB):c.371del (p.Gln124fs)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.384T>G (p.Val128=)
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.429+8T>C
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
NM_000532.5(PCCB):c.510G>A (p.Val170=)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.544-10G>A
NM_000532.5(PCCB):c.544-2A>G rs752377212
NM_000532.5(PCCB):c.544-4G>A
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
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.627C>T (p.Ala209=)
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+14G>T
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.654+20T>C rs3821445
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.75C>T (p.Val25=)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763+8G>A
NM_000532.5(PCCB):c.763+8G>C
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.764-10G>C
NM_000532.5(PCCB):c.764-5C>A
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.774C>T (p.His258=)
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn)
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884+10A>G
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.885-4A>C rs535943678
NM_000532.5(PCCB):c.885-7C>T rs1427637783
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
NM_000532.5(PCCB):c.963C>T (p.His321=)
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.966+9C>T
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001178014.1(PCCB):c.-37C>T rs145734157
NM_001178014.1(PCCB):c.-46A>T rs751837162
PCCB, 14-BP DEL, 12-BP INS, NT1218
PCCB, 8-BP DEL, NT3

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.