ClinVar Miner

List of variants in gene PCCB studied for Propionic acidemia

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Gene type:
ClinVar version:
Total variants: 1070
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
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.*44C>T rs201452852 0.00197
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
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.815G>A (p.Arg272Gln) rs150555106 0.00158
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.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.1485T>G (p.Pro495=) rs151094095 0.00039
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_000532.5(PCCB):c.1091-16A>C rs534160449 0.00027
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.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.1606A>G (p.Asn536Asp) rs202247823 0.00016
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.544-20T>C rs370010917 0.00011
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.1299+13T>C rs185352554 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.8C>T (p.Ala3Val) rs373685372 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.1228C>T (p.Arg410Trp) rs121964959 0.00006
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.66C>G (p.Arg22=) rs759836996 0.00006
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184 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.966+17T>C rs752703797 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.544-10G>A rs759150582 0.00005
NM_000532.5(PCCB):c.642G>A (p.Thr214=) rs148056730 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 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.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.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.183+17C>T rs776965589 0.00004
NM_000532.5(PCCB):c.246C>T (p.Ser82=) rs150449954 0.00004
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu) rs770601332 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.613G>A (p.Val205Ile) rs141956198 0.00004
NM_000532.5(PCCB):c.663C>G (p.Ser221=) rs771455499 0.00004
NM_000532.5(PCCB):c.764-3T>C rs147939913 0.00004
NM_000532.5(PCCB):c.950T>A (p.Val317Glu) rs762758029 0.00004
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) rs770341883 0.00003
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser) rs752758930 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000532.5(PCCB):c.1399-5C>T rs575227657 0.00003
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala) rs1027171385 0.00003
NM_000532.5(PCCB):c.1569C>G (p.Ala523=) rs1418405958 0.00003
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly) rs1422527852 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.475A>G (p.Asn159Asp) rs373189621 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 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.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 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.988T>G (p.Phe330Val) rs748708704 0.00003
NM_000532.5(PCCB):c.-35G>A rs886058016 0.00002
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.1132G>A (p.Val378Ile) rs761529521 0.00002
NM_000532.5(PCCB):c.12A>G (p.Ala4=) rs1476876445 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.1338C>T (p.His446=) rs958149789 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 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.449C>T (p.Thr150Met) rs372770908 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.543G>C (p.Leu181=) rs777868289 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 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.1022T>C (p.Ile341Thr) rs757258397 0.00001
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser) rs747309318 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.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.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.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 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.1300-11A>G rs200406126 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1302C>T (p.Ala434=) rs755024380 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp) rs749210374 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 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.1370C>T (p.Thr457Ile) rs1301343613 0.00001
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val) rs376998134 0.00001
NM_000532.5(PCCB):c.1383A>C (p.Ala461=) rs1354285306 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.1399-10C>T rs774180307 0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del rs1317123493 0.00001
NM_000532.5(PCCB):c.139C>G (p.Leu47Val) rs199935380 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.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.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.1499-6C>T rs769854818 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.1521A>G (p.Gln507=) rs774461715 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 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.177C>G (p.His59Gln) rs757134877 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.183+7C>G rs1039491317 0.00001
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669 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.305T>G (p.Phe102Cys) rs1248879007 0.00001
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg) rs757860152 0.00001
NM_000532.5(PCCB):c.321G>C (p.Val107=) rs201915067 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.348A>G (p.Gly116=) rs1057522223 0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs) rs1481849460 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.38G>A (p.Arg13Lys) rs1941477030 0.00001
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464 0.00001
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709 0.00001
NM_000532.5(PCCB):c.414C>T (p.Ala138=) rs781142631 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.483T>G (p.Ser161=) rs751200837 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.507A>C (p.Gly169=) rs1334504053 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 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.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.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.646A>G (p.Met216Val) rs747252352 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.67G>A (p.Ala23Thr) rs772483250 0.00001
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile) rs762986402 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.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697 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.747C>T (p.Thr249=) rs746448544 0.00001
NM_000532.5(PCCB):c.758T>C (p.Met253Thr) rs747881252 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.788A>G (p.Asn263Ser) rs749071200 0.00001
NM_000532.5(PCCB):c.801C>T (p.Ala267=) rs759508806 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514 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.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.907G>C (p.Asp303His) rs943266027 0.00001
NM_000532.5(PCCB):c.909C>T (p.Asp303=) rs375740382 0.00001
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu) rs1370289032 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) rs572246667 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.966+20G>A rs778065472 0.00001
NM_000532.5(PCCB):c.966+9C>T rs1325021223 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.975T>C (p.Asp325=) rs746146640 0.00001
NM_000532.5(PCCB):c.978G>A (p.Glu326=) rs1419967211 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
NC_000003.11:g.(?_135974688)_(136003251_?)del
NC_000003.11:g.(?_135980784)_(135980917_?)del
NC_000003.11:g.(?_136002659)_(136002809_?)del
NC_000003.11:g.(?_136002659)_(136016934_?)del
NC_000003.11:g.(?_136002659)_(136035926_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136016774)_(136016934_?)del
NC_000003.11:g.(?_136019862)_(136019963_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000003.12:g.136246220_136254271del
NM_000532.4(PCCB):c.-46A>T rs751837162
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.-8_12del (p.Met1fs) rs2108127602
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
NM_000532.5(PCCB):c.1002C>A (p.Pro334=) rs370304541
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp) rs1934921365
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.1021A>G (p.Ile341Val)
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs) rs2108226643
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.1037G>A (p.Arg346Lys)
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs) rs2108226666
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
NM_000532.5(PCCB):c.1047G>A (p.Gly349=) rs2108226680
NM_000532.5(PCCB):c.105dup (p.Asn36Ter) rs2108127935
NM_000532.5(PCCB):c.1068C>T (p.Gly356=) rs980116020
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
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.1088C>T (p.Ser363Leu) rs2108226720
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+2T>C rs1553782779
NM_000532.5(PCCB):c.1090+3A>C
NM_000532.5(PCCB):c.1090+6A>C
NM_000532.5(PCCB):c.1090+7T>C rs2108226731
NM_000532.5(PCCB):c.1090+8G>A rs2108226738
NM_000532.5(PCCB):c.1090_1090+1insTC
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.1091-1G>A rs2108237784
NM_000532.5(PCCB):c.1091-4C>T rs759283485
NM_000532.5(PCCB):c.1091-6_1091-3del rs767794302
NM_000532.5(PCCB):c.1091-8C>T
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1091-9T>C
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
NM_000532.5(PCCB):c.10del (p.Ala4fs)
NM_000532.5(PCCB):c.1119A>G (p.Lys373=) rs2108237811
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val) rs1576360099
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) rs200306164
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
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.1134C>A (p.Val378=)
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1142dup (p.Cys381fs) rs2108237854
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs) rs1307858265
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu) rs2108237867
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.115A>G (p.Ile39Val) rs1208205672
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn) rs2108237886
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
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.1195C>T (p.Pro399Ser)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) rs753037539
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.1198+1G>A rs1935333494
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.1199-1G>A
NM_000532.5(PCCB):c.1199-1G>C
NM_000532.5(PCCB):c.1199-20T>G
NM_000532.5(PCCB):c.1199-2A>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.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.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter) rs2108238365
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
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.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp) rs994386938
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.1252G>A (p.Ala418Thr)
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
NM_000532.5(PCCB):c.1269T>A (p.Thr423=) rs2108238461
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
NM_000532.5(PCCB):c.1275del (p.Val427fs) rs2108238464
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys) rs1031941989
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs) rs775583360
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.1288_1299+5del rs1250541852
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+3_1299+10del
NM_000532.5(PCCB):c.1299+5G>A
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.12_26del (p.Leu5_Ala9del) rs1553773148
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.1300-1G>A
NM_000532.5(PCCB):c.1300-1G>C
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1300-4T>A rs1935372420
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly) rs749210374
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
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.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys) rs1455298516
NM_000532.5(PCCB):c.1356C>T (p.Asn452=) rs1455298516
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
NM_000532.5(PCCB):c.135C>A (p.Thr45=) rs1576397628
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs) rs2108239069
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
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.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.1393G>A (p.Ala465Thr) rs774232001
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
NM_000532.5(PCCB):c.1395_1398+8del
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+1G>A
NM_000532.5(PCCB):c.1398+1G>C
NM_000532.5(PCCB):c.1398+2del rs2108239135
NM_000532.5(PCCB):c.1398+3G>A rs767511434
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.1399-1G>C
NM_000532.5(PCCB):c.1399-5C>G
NM_000532.5(PCCB):c.1399-8A>G
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
NM_000532.5(PCCB):c.13T>C (p.Leu5=) rs1559991921
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.1404T>C (p.Ala468=)
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
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.1422del (p.His476fs) rs2108240287
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
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.1462G>C (p.Glu488Gln)
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
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.1475A>G (p.Asn492Ser)
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu) rs1179000221
NM_000532.5(PCCB):c.1482C>T (p.Phe494=) rs1179000221
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
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+2T>C rs879253816
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.1499-1G>C rs1935478339
NM_000532.5(PCCB):c.1499-2A>G
NM_000532.5(PCCB):c.1499-4C>T
NM_000532.5(PCCB):c.1499-9C>T
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
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.1514T>A (p.Ile505Asn)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=) rs2108241650
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter) rs2108241656
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.152dup (p.Gln52fs) rs1941483338
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro) rs202247821
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.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1542A>C (p.Arg514=) rs1337219671
NM_000532.5(PCCB):c.154_183+17del rs2108128051
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.155_183+17del rs1941483558
NM_000532.5(PCCB):c.1564T>C (p.Leu522=) rs2108241717
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
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.1582C>T (p.Gln528Ter) rs1935482553
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly) rs1284814283
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu) rs1935483520
NM_000532.5(PCCB):c.159C>T (p.Arg53=) rs776900764
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn) rs759733016
NM_000532.5(PCCB):c.1611T>A (p.Ile537=) rs2108241808
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser) rs775930817
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
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.165T>C (p.Ile55=)
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
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.171G>T (p.Ala57=) rs1168077273
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn) rs2108128131
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu) rs767965814
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer) rs2108128163
NM_000532.5(PCCB):c.183+11_183+30dup rs1205510892
NM_000532.5(PCCB):c.183+12G>A
NM_000532.5(PCCB):c.183+13G>A
NM_000532.5(PCCB):c.183+14G>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+15del
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+1G>A rs398123460
NM_000532.5(PCCB):c.183+1G>C
NM_000532.5(PCCB):c.183+21_183+46del
NM_000532.5(PCCB):c.183+3G>C rs398123461
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.183+5G>T
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.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>C
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
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.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.187_203del rs2108137253
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.196del (p.Ala66fs) rs1553774018
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.210C>T (p.Ile70=) rs1195573163
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
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.221T>C (p.Leu74Pro)
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr) rs2108137332
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
NM_000532.5(PCCB):c.231C>T (p.Gly77=) rs2108137338
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
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.274G>C (p.Asp92His) rs2108137411
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
NM_000532.5(PCCB):c.27G>C (p.Ala9=) rs1402404407
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
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.2T>C (p.Met1Thr) rs398123462
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
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+1G>T rs1941662983
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.304-16del
NM_000532.5(PCCB):c.304-1G>A
NM_000532.5(PCCB):c.304-20T>C
NM_000532.5(PCCB):c.304-20T>G
NM_000532.5(PCCB):c.304-2A>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.304-8dup
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.319G>A (p.Val107Met) rs1553774114
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.334G>A (p.Gly112Ser) rs1941676220
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser) rs2108138282
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu) rs1257439275
NM_000532.5(PCCB):c.360T>C (p.Tyr120=) rs1198278808
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile) rs1941677490
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
NM_000532.5(PCCB):c.371dup (p.Asp125fs)
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.372+1G>A
NM_000532.5(PCCB):c.372+2T>C rs879253814
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.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.373-1G>C rs2108144374
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.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
NM_000532.5(PCCB):c.387T>C (p.Phe129=) rs1576405957
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
NM_000532.5(PCCB):c.393C>T (p.Gly131=) rs2108144426
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
NM_000532.5(PCCB):c.397C>T (p.Leu133=) rs1941791843
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
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.414C>G (p.Ala138=) rs781142631
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs) rs1941792521
NM_000532.5(PCCB):c.423C>A (p.Ile141=) rs2108144487
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
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+1G>A rs1317017233
NM_000532.5(PCCB):c.429+20A>G rs1282306131
NM_000532.5(PCCB):c.429+20A>T
NM_000532.5(PCCB):c.429+3_429+6del rs1941792728
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.430-13T>G
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.430-1G>A rs2108146606
NM_000532.5(PCCB):c.430-9C>T
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs) rs2108146615
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.449del (p.Thr150fs)
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.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.459T>A (p.Ala153=) rs2108146658
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.471G>T (p.Gly157=) rs2108146680
NM_000532.5(PCCB):c.472C>G (p.Leu158Val) rs2108146685
NM_000532.5(PCCB):c.474G>A (p.Leu158=) rs2108146690
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys) rs765946213
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.488del (p.Gly163fs)
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) rs879253815
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.49C>T (p.Leu17=) rs200185747
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) rs1941842008
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp) rs1941842177
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer) rs2108146780
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.526T>C (p.Tyr176His)
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
NM_000532.5(PCCB):c.528T>C (p.Tyr176=) rs2108146812
NM_000532.5(PCCB):c.52del (p.Ala18fs)
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly) rs769481450
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
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+1G>A rs2108146835
NM_000532.5(PCCB):c.543+1G>C
NM_000532.5(PCCB):c.543+2T>G
NM_000532.5(PCCB):c.543+8A>G
NM_000532.5(PCCB):c.544-10G>C
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr) rs2108181825
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) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
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.579T>A (p.Ile193=) rs2108181900
NM_000532.5(PCCB):c.57C>T (p.Ser19=) rs1196995378
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
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.593G>A (p.Gly198Asp)
NM_000532.5(PCCB):c.594C>G (p.Gly198=) rs1933215700
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
NM_000532.5(PCCB):c.597A>C (p.Pro199=) rs773799305
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) rs759098964
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.612C>T (p.Ala204=) rs201054265
NM_000532.5(PCCB):c.614T>A (p.Val205Asp) rs1303129574
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
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.624_627dup (p.Leu210fs)
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) rs2108182082
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg) rs375740942
NM_000532.5(PCCB):c.642G>T (p.Thr214=) rs148056730
NM_000532.5(PCCB):c.649G>A (p.Val217Ile) rs2108182134
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
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.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+1G>C rs1553777590
NM_000532.5(PCCB):c.654+462A>G rs1576327011
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.655-2A>G rs1553778865
NM_000532.5(PCCB):c.655-3C>G
NM_000532.5(PCCB):c.655-7del
NM_000532.5(PCCB):c.655-8T>C
NM_000532.5(PCCB):c.655-8dup
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.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.683del (p.Pro228fs) rs2108197244
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
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.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
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.72G>A (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.72G>T (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
NM_000532.5(PCCB):c.732dup (p.Gly245fs) rs2108197325
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
NM_000532.5(PCCB):c.737G>T (p.Gly246Val) rs2108197348
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.750C>T (p.His250=) rs1255224715
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
NM_000532.5(PCCB):c.751_752del (p.Thr251fs) rs2108197377
NM_000532.5(PCCB):c.753C>T (p.Thr251=) rs2108197383
NM_000532.5(PCCB):c.756_758del (p.Met253del)
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
NM_000532.5(PCCB):c.763+12dup
NM_000532.5(PCCB):c.763+16G>A
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+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.763G>A (p.Gly255Ser) rs1553778909
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.769G>A (p.Ala257Thr) rs1197317905
NM_000532.5(PCCB):c.76dup (p.Arg26fs) rs1941479615
NM_000532.5(PCCB):c.774C>T (p.His258=) rs141615209
NM_000532.5(PCCB):c.77_183+30delinsCC
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.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser) rs1234137372
NM_000532.5(PCCB):c.809del (p.Asn270fs)
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
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.819T>G (p.Asp273Glu)
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
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.835C>T (p.Pro279Ser)
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) rs780837200
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.840G>A (p.Leu280=) rs1934015229
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn) rs777434061
NM_000532.5(PCCB):c.852C>T (p.Asp284=) rs1298793935
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
NM_000532.5(PCCB):c.854del (p.Pro285fs)
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.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.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) rs183013046
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+1G>A
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.884+8G>A rs187345727
NM_000532.5(PCCB):c.884+8G>T rs187345727
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000532.5(PCCB):c.885-11dup
NM_000532.5(PCCB):c.885-17C>G
NM_000532.5(PCCB):c.885-18C>T rs1482092717
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.885-3A>C
NM_000532.5(PCCB):c.885-6C>G
NM_000532.5(PCCB):c.885-6C>T
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu) rs147379583
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
NM_000532.5(PCCB):c.894G>A (p.Leu298=) rs746964439
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
NM_000532.5(PCCB):c.912A>G (p.Thr304=) rs778118663
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp) rs1934256655
NM_000532.5(PCCB):c.933C>G (p.Thr311=) rs776005016
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
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.947T>G (p.Met316Arg) rs2108208811
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr) rs751136139
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
NM_000532.5(PCCB):c.951G>A (p.Val317=) rs1366112071
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
NM_000532.5(PCCB):c.957C>G (p.Ile319Met) rs868483670
NM_000532.5(PCCB):c.957C>T (p.Ile319=) rs868483670
NM_000532.5(PCCB):c.95C>T (p.Ala32Val) rs2108127907
NM_000532.5(PCCB):c.963C>T (p.His321=) rs754807564
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe) rs1034824113
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+1G>T rs1385850128
NM_000532.5(PCCB):c.966+20G>T
NM_000532.5(PCCB):c.966+5G>A rs1255284441
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.967-2A>C rs1553782747
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.968TTG[1] (p.Val324del) rs1353971489
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.972TGA[1] (p.Asp325del) rs796052023
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter) rs2108226567
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

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