ClinVar Miner

List of variants in gene PCCB reported as likely benign for Propionic acidemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 515
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000532.4(PCCB):c.-37C>T rs145734157 0.00591
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
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.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
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.429+7G>A rs201986472 0.00073
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 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.1485T>G (p.Pro495=) rs151094095 0.00039
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_000532.5(PCCB):c.303+8T>A rs199769617 0.00021
NM_000532.5(PCCB):c.510G>A (p.Val170=) rs1212025973 0.00019
NM_000532.5(PCCB):c.1399-19T>C rs368309360 0.00016
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000532.5(PCCB):c.544-20T>C rs370010917 0.00011
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_000532.5(PCCB):c.373-18T>C rs775972133 0.00009
NM_000532.5(PCCB):c.885-4A>C rs535943678 0.00009
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000532.5(PCCB):c.430-5C>G rs369339939 0.00007
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys) rs148578333 0.00007
NM_000532.5(PCCB):c.1198+11G>C rs952515018 0.00006
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996 0.00006
NM_000532.5(PCCB):c.966+17T>C rs752703797 0.00006
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000532.5(PCCB):c.544-10G>A rs759150582 0.00005
NM_000532.5(PCCB):c.642G>A (p.Thr214=) rs148056730 0.00005
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332 0.00004
NM_000532.5(PCCB):c.1498+10T>G rs777201996 0.00004
NM_000532.5(PCCB):c.1499-20C>T rs183824739 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000532.5(PCCB):c.183+17C>T rs776965589 0.00004
NM_000532.5(PCCB):c.246C>T (p.Ser82=) rs150449954 0.00004
NM_000532.5(PCCB):c.372+17A>G rs192106664 0.00004
NM_000532.5(PCCB):c.402A>G (p.Ser134=) rs200988668 0.00004
NM_000532.5(PCCB):c.51G>A (p.Leu17=) rs1262464904 0.00004
NM_000532.5(PCCB):c.663C>G (p.Ser221=) rs771455499 0.00004
NM_000532.5(PCCB):c.1399-5C>T rs575227657 0.00003
NM_000532.5(PCCB):c.1569C>G (p.Ala523=) rs1418405958 0.00003
NM_000532.5(PCCB):c.372+15C>T rs370726053 0.00003
NM_000532.5(PCCB):c.450G>A (p.Thr150=) rs749989578 0.00003
NM_000532.5(PCCB):c.654+12G>T rs770141659 0.00003
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877 0.00003
NM_000532.5(PCCB):c.906T>G (p.Leu302=) rs139600424 0.00003
NM_000532.5(PCCB):c.967-14A>G rs1011978513 0.00003
NM_000532.5(PCCB):c.1090+18T>C rs775309894 0.00002
NM_000532.5(PCCB):c.1091-4C>G rs759283485 0.00002
NM_000532.5(PCCB):c.12A>G (p.Ala4=) rs1476876445 0.00002
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.1338C>T (p.His446=) rs958149789 0.00002
NM_000532.5(PCCB):c.1499-14C>T rs369168852 0.00002
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611 0.00002
NM_000532.5(PCCB):c.30C>T (p.Val10=) rs754303318 0.00002
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.480C>T (p.Asp160=) rs1454839953 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000532.5(PCCB):c.939C>T (p.Ala313=) rs369008776 0.00002
NM_000532.5(PCCB):c.945C>T (p.Asn315=) rs766185451 0.00002
NM_000532.5(PCCB):c.996C>T (p.Ile332=) rs773854246 0.00002
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=) rs769437282 0.00001
NM_000532.5(PCCB):c.1091-14C>A rs1053805085 0.00001
NM_000532.5(PCCB):c.1091-6T>C rs778146041 0.00001
NM_000532.5(PCCB):c.1096T>C (p.Leu366=) rs779828803 0.00001
NM_000532.5(PCCB):c.1104T>C (p.Ile368=) rs768328410 0.00001
NM_000532.5(PCCB):c.1107T>C (p.Asn369=) rs1025062139 0.00001
NM_000532.5(PCCB):c.1173T>C (p.Phe391=) rs751750136 0.00001
NM_000532.5(PCCB):c.1198+19G>A rs923951408 0.00001
NM_000532.5(PCCB):c.1199-4C>T rs1361484856 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1224C>T (p.Ile408=) rs773701247 0.00001
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=) rs781546348 0.00001
NM_000532.5(PCCB):c.1300-11A>G rs200406126 0.00001
NM_000532.5(PCCB):c.1302C>T (p.Ala434=) rs755024380 0.00001
NM_000532.5(PCCB):c.1344T>C (p.Cys448=) rs1306702510 0.00001
NM_000532.5(PCCB):c.1368C>T (p.Pro456=) rs776005238 0.00001
NM_000532.5(PCCB):c.1383A>C (p.Ala461=) rs1354285306 0.00001
NM_000532.5(PCCB):c.1399-10C>T rs774180307 0.00001
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585 0.00001
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709 0.00001
NM_000532.5(PCCB):c.1431G>A (p.Glu477=) rs989893902 0.00001
NM_000532.5(PCCB):c.1499-6C>T rs769854818 0.00001
NM_000532.5(PCCB):c.1521A>G (p.Gln507=) rs774461715 0.00001
NM_000532.5(PCCB):c.1614A>G (p.Pro538=) rs767287287 0.00001
NM_000532.5(PCCB):c.168C>T (p.Asp56=) rs759008477 0.00001
NM_000532.5(PCCB):c.183+7C>G rs1039491317 0.00001
NM_000532.5(PCCB):c.27G>A (p.Ala9=) rs1402404407 0.00001
NM_000532.5(PCCB):c.297G>A (p.Lys99=) rs768256081 0.00001
NM_000532.5(PCCB):c.303+13A>G rs533887723 0.00001
NM_000532.5(PCCB):c.321G>C (p.Val107=) rs201915067 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.348A>G (p.Gly116=) rs1057522223 0.00001
NM_000532.5(PCCB):c.373-13A>G rs1559997795 0.00001
NM_000532.5(PCCB):c.373-7T>G rs995479007 0.00001
NM_000532.5(PCCB):c.414C>T (p.Ala138=) rs781142631 0.00001
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837 0.00001
NM_000532.5(PCCB):c.507A>C (p.Gly169=) rs1334504053 0.00001
NM_000532.5(PCCB):c.544-4G>A rs1390317726 0.00001
NM_000532.5(PCCB):c.54G>A (p.Ala18=) rs1343618692 0.00001
NM_000532.5(PCCB):c.597A>G (p.Pro199=) rs773799305 0.00001
NM_000532.5(PCCB):c.627C>T (p.Ala209=) rs1157323383 0.00001
NM_000532.5(PCCB):c.630A>C (p.Leu210=) rs1269554950 0.00001
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950 0.00001
NM_000532.5(PCCB):c.63C>G (p.Leu21=) rs1941478618 0.00001
NM_000532.5(PCCB):c.645C>T (p.Phe215=) rs1250882565 0.00001
NM_000532.5(PCCB):c.654+14G>T rs1457950469 0.00001
NM_000532.5(PCCB):c.660C>T (p.Thr220=) rs376645261 0.00001
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055 0.00001
NM_000532.5(PCCB):c.732C>T (p.Leu244=) rs752940167 0.00001
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697 0.00001
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544 0.00001
NM_000532.5(PCCB):c.75C>T (p.Val25=) rs761030422 0.00001
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp) rs529945350 0.00001
NM_000532.5(PCCB):c.801C>T (p.Ala267=) rs759508806 0.00001
NM_000532.5(PCCB):c.884+14C>T rs372020160 0.00001
NM_000532.5(PCCB):c.884+15G>A rs374909979 0.00001
NM_000532.5(PCCB):c.885-7C>T rs1427637783 0.00001
NM_000532.5(PCCB):c.888C>T (p.Asp296=) rs753285409 0.00001
NM_000532.5(PCCB):c.909C>T (p.Asp303=) rs375740382 0.00001
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) rs572246667 0.00001
NM_000532.5(PCCB):c.966+20G>A rs778065472 0.00001
NM_000532.5(PCCB):c.966+9C>T rs1325021223 0.00001
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640 0.00001
NM_000532.5(PCCB):c.978G>A (p.Glu326=) rs1419967211 0.00001
NM_000532.5(PCCB):c.1002C>A (p.Pro334=) rs370304541
NM_000532.5(PCCB):c.1017C>T (p.Asn339=) rs764080368
NM_000532.5(PCCB):c.1020C>T (p.Ile340=) rs2108226621
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
NM_000532.5(PCCB):c.1047G>A (p.Gly349=) rs2108226680
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
NM_000532.5(PCCB):c.1086C>T (p.Ala362=) rs748740009
NM_000532.5(PCCB):c.1090+11G>A
NM_000532.5(PCCB):c.1090+13T>C
NM_000532.5(PCCB):c.1090+13_1090+16del
NM_000532.5(PCCB):c.1090+15_1090+16dup
NM_000532.5(PCCB):c.1090+17A>C
NM_000532.5(PCCB):c.1090+17A>T
NM_000532.5(PCCB):c.1090+17dup
NM_000532.5(PCCB):c.1090+19A>G
NM_000532.5(PCCB):c.1090+7T>C rs2108226731
NM_000532.5(PCCB):c.1090+8G>A rs2108226738
NM_000532.5(PCCB):c.1091-12C>G
NM_000532.5(PCCB):c.1091-12C>T
NM_000532.5(PCCB):c.1091-14C>T
NM_000532.5(PCCB):c.1091-15TC[3]
NM_000532.5(PCCB):c.1091-16_1091-14del
NM_000532.5(PCCB):c.1091-19A>G
NM_000532.5(PCCB):c.1091-4C>T rs759283485
NM_000532.5(PCCB):c.1091-8C>T
NM_000532.5(PCCB):c.1091-9T>C
NM_000532.5(PCCB):c.1119A>G (p.Lys373=) rs2108237811
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=) rs2108237867
NM_000532.5(PCCB):c.1149A>T (p.Ala383=) rs1303454039
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
NM_000532.5(PCCB):c.1194A>G (p.Leu398=) rs767647079
NM_000532.5(PCCB):c.1198+12A>G
NM_000532.5(PCCB):c.1198+13C>T
NM_000532.5(PCCB):c.1198+14A>G
NM_000532.5(PCCB):c.1198+17G>A
NM_000532.5(PCCB):c.1198+18T>G
NM_000532.5(PCCB):c.1198+18dup
NM_000532.5(PCCB):c.1198+19G>C
NM_000532.5(PCCB):c.1198+19G>T
NM_000532.5(PCCB):c.1199-15C>G
NM_000532.5(PCCB):c.1199-15C>T
NM_000532.5(PCCB):c.1199-17C>T
NM_000532.5(PCCB):c.1199-18dup rs2108238321
NM_000532.5(PCCB):c.1199-20T>G
NM_000532.5(PCCB):c.1199-4C>G
NM_000532.5(PCCB):c.1199-5T>C
NM_000532.5(PCCB):c.1199-7T>C
NM_000532.5(PCCB):c.1199-9C>T
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1242G>A (p.Lys414=) rs780048274
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
NM_000532.5(PCCB):c.1248C>T (p.Leu416=) rs747022334
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
NM_000532.5(PCCB):c.1269T>A (p.Thr423=) rs2108238461
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
NM_000532.5(PCCB):c.1287C>A (p.Val429=) rs2108238489
NM_000532.5(PCCB):c.1287C>G (p.Val429=) rs2108238489
NM_000532.5(PCCB):c.1293C>T (p.Thr431=) rs1474177341
NM_000532.5(PCCB):c.1299+12A>G rs751610521
NM_000532.5(PCCB):c.1299+19A>C
NM_000532.5(PCCB):c.1299+7A>T
NM_000532.5(PCCB):c.1299+9C>T
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
NM_000532.5(PCCB):c.1300-12G>T
NM_000532.5(PCCB):c.1300-13G>A rs1320397998
NM_000532.5(PCCB):c.1300-18C>T
NM_000532.5(PCCB):c.1300-19G>A
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1356C>T (p.Asn452=) rs1455298516
NM_000532.5(PCCB):c.135C>A (p.Thr45=) rs1576397628
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
NM_000532.5(PCCB):c.1398+11C>G
NM_000532.5(PCCB):c.1398+15C>T
NM_000532.5(PCCB):c.1398+16T>G
NM_000532.5(PCCB):c.1398+18T>C
NM_000532.5(PCCB):c.1398+8C>T
NM_000532.5(PCCB):c.1398+9C>T rs2108239140
NM_000532.5(PCCB):c.1399-12_1399-10del
NM_000532.5(PCCB):c.1399-5C>G
NM_000532.5(PCCB):c.1399-8A>G
NM_000532.5(PCCB):c.13T>C (p.Leu5=) rs1559991921
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
NM_000532.5(PCCB):c.141G>A (p.Leu47=) rs1378807952
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
NM_000532.5(PCCB):c.1446T>C (p.Ala482=) rs1233276940
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
NM_000532.5(PCCB):c.144G>C (p.Leu48=) rs1462411928
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1461C>T (p.Ile487=) rs778676531
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
NM_000532.5(PCCB):c.1473C>T (p.Ala491=) rs1428860331
NM_000532.5(PCCB):c.1482C>T (p.Phe494=) rs1179000221
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
NM_000532.5(PCCB):c.1498+10T>C rs777201996
NM_000532.5(PCCB):c.1498+12T>C
NM_000532.5(PCCB):c.1498+12_1498+13del rs770922237
NM_000532.5(PCCB):c.1498+14G>A
NM_000532.5(PCCB):c.1498+15T>C
NM_000532.5(PCCB):c.1498+8A>G rs2108240447
NM_000532.5(PCCB):c.1498+9C>T
NM_000532.5(PCCB):c.1499-10G>T
NM_000532.5(PCCB):c.1499-19C>T
NM_000532.5(PCCB):c.1499-4C>T
NM_000532.5(PCCB):c.1499-9C>T
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=) rs2108241650
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
NM_000532.5(PCCB):c.1539C>G (p.Ala513=) rs2108241686
NM_000532.5(PCCB):c.1539C>T (p.Ala513=) rs2108241686
NM_000532.5(PCCB):c.1542A>C (p.Arg514=) rs1337219671
NM_000532.5(PCCB):c.1564T>C (p.Leu522=) rs2108241717
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
NM_000532.5(PCCB):c.159C>T (p.Arg53=) rs776900764
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
NM_000532.5(PCCB):c.1611T>A (p.Ile537=) rs2108241808
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
NM_000532.5(PCCB):c.171G>T (p.Ala57=) rs1168077273
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.183+12G>A
NM_000532.5(PCCB):c.183+13G>A
NM_000532.5(PCCB):c.183+15G>A
NM_000532.5(PCCB):c.183+15G>C
NM_000532.5(PCCB):c.183+15G>T
NM_000532.5(PCCB):c.183+16C>T
NM_000532.5(PCCB):c.183+17C>A
NM_000532.5(PCCB):c.183+18T>C
NM_000532.5(PCCB):c.183+19A>C
NM_000532.5(PCCB):c.183+19A>G rs2108128256
NM_000532.5(PCCB):c.183+19_183+22del rs2108128253
NM_000532.5(PCCB):c.183+7C>T rs1039491317
NM_000532.5(PCCB):c.183+8C>T rs780042796
NM_000532.5(PCCB):c.183+9T>C rs2108128200
NM_000532.5(PCCB):c.183+9_183+28del
NM_000532.5(PCCB):c.184-12G>A
NM_000532.5(PCCB):c.184-16C>T
NM_000532.5(PCCB):c.184-5T>C
NM_000532.5(PCCB):c.184-7A>G rs1941659337
NM_000532.5(PCCB):c.184-7A>T rs1941659337
NM_000532.5(PCCB):c.184-8C>T
NM_000532.5(PCCB):c.184-8del
NM_000532.5(PCCB):c.184-9C>T rs2108137236
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
NM_000532.5(PCCB):c.18G>C (p.Arg6=) rs2108127702
NM_000532.5(PCCB):c.18G>T (p.Arg6=) rs2108127702
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
NM_000532.5(PCCB):c.210C>T (p.Ile70=) rs1195573163
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
NM_000532.5(PCCB):c.216C>T (p.Leu72=) rs2108137325
NM_000532.5(PCCB):c.217T>C (p.Leu73=) rs1941660630
NM_000532.5(PCCB):c.21G>A (p.Val7=) rs1404763021
NM_000532.5(PCCB):c.21G>C (p.Val7=) rs1404763021
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
NM_000532.5(PCCB):c.231C>T (p.Gly77=) rs2108137338
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
NM_000532.5(PCCB):c.249C>T (p.Asp83=) rs1941661486
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
NM_000532.5(PCCB):c.27G>C (p.Ala9=) rs1402404407
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
NM_000532.5(PCCB):c.303+13A>C
NM_000532.5(PCCB):c.303+15G>A
NM_000532.5(PCCB):c.303+18G>A
NM_000532.5(PCCB):c.303+19_303+21del rs1338554743
NM_000532.5(PCCB):c.303+7G>A rs747794871
NM_000532.5(PCCB):c.304-10T>C
NM_000532.5(PCCB):c.304-13A>G
NM_000532.5(PCCB):c.304-14C>T
NM_000532.5(PCCB):c.304-20T>C
NM_000532.5(PCCB):c.304-20T>G
NM_000532.5(PCCB):c.304-4G>T rs1178341565
NM_000532.5(PCCB):c.304-5G>C rs2108138190
NM_000532.5(PCCB):c.304-6T>C rs1941675458
NM_000532.5(PCCB):c.304-9T>C rs772699339
NM_000532.5(PCCB):c.306T>C (p.Phe102=) rs770601332
NM_000532.5(PCCB):c.30C>A (p.Val10=) rs754303318
NM_000532.5(PCCB):c.30C>G (p.Val10=) rs754303318
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
NM_000532.5(PCCB):c.321G>A (p.Val107=)
NM_000532.5(PCCB):c.324C>G (p.Val108=)
NM_000532.5(PCCB):c.327T>C (p.Thr109=) rs2108138226
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
NM_000532.5(PCCB):c.360T>C (p.Tyr120=) rs1198278808
NM_000532.5(PCCB):c.372+12C>T
NM_000532.5(PCCB):c.372+14C>G
NM_000532.5(PCCB):c.372+15C>A
NM_000532.5(PCCB):c.372+18T>C
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.373-17T>A
NM_000532.5(PCCB):c.373-5T>C
NM_000532.5(PCCB):c.373-8C>G
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
NM_000532.5(PCCB):c.384T>G (p.Val128=) rs1169839469
NM_000532.5(PCCB):c.387T>C (p.Phe129=) rs1576405957
NM_000532.5(PCCB):c.397C>T (p.Leu133=) rs1941791843
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
NM_000532.5(PCCB):c.414C>G (p.Ala138=) rs781142631
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
NM_000532.5(PCCB):c.423C>A (p.Ile141=) rs2108144487
NM_000532.5(PCCB):c.429+11A>C
NM_000532.5(PCCB):c.429+15C>T
NM_000532.5(PCCB):c.429+17C>A
NM_000532.5(PCCB):c.429+17C>T
NM_000532.5(PCCB):c.429+20A>G rs1282306131
NM_000532.5(PCCB):c.429+20A>T
NM_000532.5(PCCB):c.429+8T>C rs2108144514
NM_000532.5(PCCB):c.429+9T>G
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
NM_000532.5(PCCB):c.42C>T (p.Leu14=) rs2108127783
NM_000532.5(PCCB):c.430-12C>T
NM_000532.5(PCCB):c.430-14C>A
NM_000532.5(PCCB):c.430-14C>G rs1320752306
NM_000532.5(PCCB):c.430-17T>C
NM_000532.5(PCCB):c.430-17T>G rs2108146563
NM_000532.5(PCCB):c.430-18A>T
NM_000532.5(PCCB):c.430-19G>A
NM_000532.5(PCCB):c.430-9C>T
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
NM_000532.5(PCCB):c.453G>A (p.Val151=)
NM_000532.5(PCCB):c.459T>A (p.Ala153=) rs2108146658
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
NM_000532.5(PCCB):c.471G>T (p.Gly157=) rs2108146680
NM_000532.5(PCCB):c.474G>A (p.Leu158=) rs2108146690
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
NM_000532.5(PCCB):c.49C>T (p.Leu17=) rs200185747
NM_000532.5(PCCB):c.519G>A (p.Leu173=) rs2108146783
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
NM_000532.5(PCCB):c.528T>C (p.Tyr176=) rs2108146812
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
NM_000532.5(PCCB):c.541C>T (p.Leu181=) rs991870747
NM_000532.5(PCCB):c.543+10C>G rs2108146841
NM_000532.5(PCCB):c.543+11T>C
NM_000532.5(PCCB):c.543+17T>G
NM_000532.5(PCCB):c.543+19G>C
NM_000532.5(PCCB):c.543+8A>G
NM_000532.5(PCCB):c.544-10G>C
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
NM_000532.5(PCCB):c.579T>A (p.Ile193=) rs2108181900
NM_000532.5(PCCB):c.57C>T (p.Ser19=) rs1196995378
NM_000532.5(PCCB):c.594C>G (p.Gly198=) rs1933215700
NM_000532.5(PCCB):c.597A>C (p.Pro199=) rs773799305
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
NM_000532.5(PCCB):c.612C>T (p.Ala204=) rs201054265
NM_000532.5(PCCB):c.642G>T (p.Thr214=) rs148056730
NM_000532.5(PCCB):c.654+13G>A
NM_000532.5(PCCB):c.654+14del rs748846212
NM_000532.5(PCCB):c.654+16C>A
NM_000532.5(PCCB):c.654+17T>C
NM_000532.5(PCCB):c.654+18G>A
NM_000532.5(PCCB):c.654+8A>T rs2108182157
NM_000532.5(PCCB):c.655-12C>G
NM_000532.5(PCCB):c.655-18G>A
NM_000532.5(PCCB):c.655-20C>G
NM_000532.5(PCCB):c.655-7del
NM_000532.5(PCCB):c.655-8T>C
NM_000532.5(PCCB):c.655-9T>C
NM_000532.5(PCCB):c.663C>T (p.Ser221=) rs771455499
NM_000532.5(PCCB):c.667C>T (p.Leu223=) rs1290994455
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
NM_000532.5(PCCB):c.675C>T (p.Ile225=) rs2108197231
NM_000532.5(PCCB):c.693G>T (p.Val231=)
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
NM_000532.5(PCCB):c.6G>A (p.Ala2=) rs769835356
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
NM_000532.5(PCCB):c.702C>G (p.Val234=)
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
NM_000532.5(PCCB):c.72G>A (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.72G>T (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.750C>T (p.His250=) rs1255224715
NM_000532.5(PCCB):c.753C>T (p.Thr251=) rs2108197383
NM_000532.5(PCCB):c.763+12dup
NM_000532.5(PCCB):c.763+16G>A
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763+7G>A
NM_000532.5(PCCB):c.763+8G>A rs2108197414
NM_000532.5(PCCB):c.763+8G>C rs2108197414
NM_000532.5(PCCB):c.764-10G>A
NM_000532.5(PCCB):c.764-10G>C rs372617301
NM_000532.5(PCCB):c.764-11del
NM_000532.5(PCCB):c.764-16C>T
NM_000532.5(PCCB):c.764-17G>T
NM_000532.5(PCCB):c.764-18T>G
NM_000532.5(PCCB):c.764-5C>A rs1934010592
NM_000532.5(PCCB):c.764-7C>A
NM_000532.5(PCCB):c.764-7C>T
NM_000532.5(PCCB):c.765T>C (p.Gly255=) rs2108202688
NM_000532.5(PCCB):c.768G>A (p.Val256=) rs2108202690
NM_000532.5(PCCB):c.774C>T (p.His258=) rs141615209
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
NM_000532.5(PCCB):c.816G>C (p.Arg272=) rs762223074
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
NM_000532.5(PCCB):c.840G>A (p.Leu280=) rs1934015229
NM_000532.5(PCCB):c.852C>T (p.Asp284=) rs1298793935
NM_000532.5(PCCB):c.861C>A (p.Pro287=) rs779786032
NM_000532.5(PCCB):c.861C>T (p.Pro287=) rs779786032
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000532.5(PCCB):c.864C>A (p.Val288=) rs1934016889
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.884+10A>G rs2108202951
NM_000532.5(PCCB):c.884+11G>A
NM_000532.5(PCCB):c.884+14C>A
NM_000532.5(PCCB):c.884+16dup
NM_000532.5(PCCB):c.884+19C>G
NM_000532.5(PCCB):c.884+8G>A rs187345727
NM_000532.5(PCCB):c.884+8G>T rs187345727
NM_000532.5(PCCB):c.885-17C>G
NM_000532.5(PCCB):c.885-18C>T rs1482092717
NM_000532.5(PCCB):c.885-6C>T
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
NM_000532.5(PCCB):c.894G>A (p.Leu298=) rs746964439
NM_000532.5(PCCB):c.912A>G (p.Thr304=) rs778118663
NM_000532.5(PCCB):c.933C>G (p.Thr311=) rs776005016
NM_000532.5(PCCB):c.951G>A (p.Val317=) rs1366112071
NM_000532.5(PCCB):c.957C>T (p.Ile319=) rs868483670
NM_000532.5(PCCB):c.963C>T (p.His321=) rs754807564
NM_000532.5(PCCB):c.966+10A>G rs2108208861
NM_000532.5(PCCB):c.966+13T>C
NM_000532.5(PCCB):c.966+15T>C
NM_000532.5(PCCB):c.966+18T>A
NM_000532.5(PCCB):c.966+18T>C rs756231828
NM_000532.5(PCCB):c.966+18_966+21del
NM_000532.5(PCCB):c.966+19T>C rs1472403904
NM_000532.5(PCCB):c.966+20G>T
NM_000532.5(PCCB):c.966+8C>T
NM_000532.5(PCCB):c.967-10A>T
NM_000532.5(PCCB):c.967-18G>A rs2108226497
NM_000532.5(PCCB):c.967-4G>T rs2108226511
NM_000532.5(PCCB):c.967-5T>G rs1934917985
NM_000532.5(PCCB):c.967-7C>T
NM_000532.5(PCCB):c.967-8dup
NM_000532.5(PCCB):c.96C>A (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.96C>T (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
NM_000532.5(PCCB):c.9G>A (p.Ala3=) rs763025114

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.